Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.96808762_96809378delinsATGCA2580068331CNNM4c.2130+20_2189delinsATG
c.2193+20_2252delinsATG
c.2130+20_2277delinsATG
c.591+20_650delinsATG
 ClinVar
2g.96809344G>ACA1783605CNNM4c.2155G>A (p.Gly719Arg)
c.2218G>A (p.Gly740Arg)
c.2243G>A (p.Arg748Gln)
c.616G>A (p.Gly206Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96809344G>CCA347709426CNNM4c.2155G>C (p.Gly719Arg)
c.2218G>C (p.Gly740Arg)
c.2243G>C (p.Arg748Pro)
c.616G>C (p.Gly206Arg)
 dbSNP gnomAD v4
2g.96809344G=CA1272775180CNNM4c.2155G= (p.Gly719=)
c.2218G= (p.Gly740=)
c.2243G= (p.Arg748=)
c.616G= (p.Gly206=)
2g.96809344G>TCA347709425CNNM4c.2155G>T (p.Gly719Trp)
c.2218G>T (p.Gly740Trp)
c.2243G>T (p.Arg748Leu)
c.616G>T (p.Gly206Trp)
 gnomAD v4
2g.96809345G>ACA347709427CNNM4c.2156G>A (p.Gly719Glu)
c.2219G>A (p.Gly740Glu)
c.2244G>A (p.Arg748=)
c.617G>A (p.Gly206Glu)
2g.96809345G>CCA347709428CNNM4c.2156G>C (p.Gly719Ala)
c.2219G>C (p.Gly740Ala)
c.2244G>C (p.Arg748=)
c.617G>C (p.Gly206Ala)
2g.96809345G>TCA347709429CNNM4c.2156G>T (p.Gly719Val)
c.2219G>T (p.Gly740Val)
c.2244G>T (p.Arg748=)
c.617G>T (p.Gly206Val)
2g.96809346G>ACA427519309CNNM4c.2157G>A (p.Gly719=)
c.2220G>A (p.Gly740=)
c.2245G>A (p.Ala749Thr)
c.618G>A (p.Gly206=)
2g.96809346G>CCA427519310CNNM4c.2157G>C (p.Gly719=)
c.2220G>C (p.Gly740=)
c.2245G>C (p.Ala749Pro)
c.618G>C (p.Gly206=)
2g.96809346G>TCA427519311CNNM4c.2157G>T (p.Gly719=)
c.2220G>T (p.Gly740=)
c.2245G>T (p.Ala749Ser)
c.618G>T (p.Gly206=)
2g.96809347C>ACA347709430CNNM4c.2158C>A (p.Leu720Met)
c.2221C>A (p.Leu741Met)
c.2246C>A (p.Ala749Asp)
c.619C>A (p.Leu207Met)
 gnomAD v4
2g.96809347C>GCA347709431CNNM4c.2158C>G (p.Leu720Val)
c.2221C>G (p.Leu741Val)
c.2246C>G (p.Ala749Gly)
c.619C>G (p.Leu207Val)
2g.96809347C>TCA427519371CNNM4c.2158C>T (p.Leu720=)
c.2221C>T (p.Leu741=)
c.2246C>T (p.Ala749Val)
c.619C>T (p.Leu207=)
2g.96809348T>ACA347709445CNNM4c.2159T>A (p.Leu720Gln)
c.2222T>A (p.Leu741Gln)
c.2247T>A (p.Ala749=)
c.620T>A (p.Leu207Gln)
 gnomAD v4
2g.96809348T>CCA347709436CNNM4c.2159T>C (p.Leu720Pro)
c.2222T>C (p.Leu741Pro)
c.2247T>C (p.Ala749=)
c.620T>C (p.Leu207Pro)
2g.96809348T>GCA347709433CNNM4c.2159T>G (p.Leu720Arg)
c.2222T>G (p.Leu741Arg)
c.2247T>G (p.Ala749=)
c.620T>G (p.Leu207Arg)
2g.96809349G>ACA427519372CNNM4c.2160G>A (p.Leu720=)
c.2223G>A (p.Leu741=)
c.2248G>A (p.Ala750Thr)
c.621G>A (p.Leu207=)
2g.96809349G>CCA427519373CNNM4c.2160G>C (p.Leu720=)
c.2223G>C (p.Leu741=)
c.2248G>C (p.Ala750Pro)
c.621G>C (p.Leu207=)
2g.96809349G=CA1272775181CNNM4c.2160G= (p.Leu720=)
c.2223G= (p.Leu741=)
c.2248G= (p.Ala750=)
c.621G= (p.Leu207=)
2g.96809349G>TCA52461392CNNM4c.2160G>T (p.Leu720=)
c.2223G>T (p.Leu741=)
c.2248G>T (p.Ala750Ser)
c.621G>T (p.Leu207=)
 dbSNP
2g.96809350C>ACA347709451CNNM4c.2161C>A (p.Leu721Met)
c.2224C>A (p.Leu742Met)
c.2249C>A (p.Ala750Asp)
c.622C>A (p.Leu208Met)
2g.96809350C=CA1272775182CNNM4c.2161C= (p.Leu721=)
c.2224C= (p.Leu742=)
c.2249C= (p.Ala750=)
c.622C= (p.Leu208=)
2g.96809350C>GCA347709454CNNM4c.2161C>G (p.Leu721Val)
c.2224C>G (p.Leu742Val)
c.2249C>G (p.Ala750Gly)
c.622C>G (p.Leu208Val)
2g.96809350C>TCA427519375CNNM4c.2161C>T (p.Leu721=)
c.2224C>T (p.Leu742=)
c.2249C>T (p.Ala750Val)
c.622C>T (p.Leu208=)
 dbSNP
2g.96809351T>ACA347709458CNNM4c.2162T>A (p.Leu721Gln)
c.2225T>A (p.Leu742Gln)
c.2250T>A (p.Ala750=)
c.623T>A (p.Leu208Gln)
2g.96809351T>CCA347709461CNNM4c.2162T>C (p.Leu721Pro)
c.2225T>C (p.Leu742Pro)
c.2250T>C (p.Ala750=)
c.623T>C (p.Leu208Pro)
2g.96809351T>GCA347709464CNNM4c.2162T>G (p.Leu721Arg)
c.2225T>G (p.Leu742Arg)
c.2250T>G (p.Ala750=)
c.623T>G (p.Leu208Arg)
2g.96809352G>ACA427519378CNNM4c.2163G>A (p.Leu721=)
c.2226G>A (p.Leu742=)
c.2251G>A (p.Gly751Ser)
c.624G>A (p.Leu208=)
 dbSNP gnomAD v3 gnomAD v4
2g.96809352G>CCA427519377CNNM4c.2163G>C (p.Leu721=)
c.2226G>C (p.Leu742=)
c.2251G>C (p.Gly751Arg)
c.624G>C (p.Leu208=)
2g.96809352G=CA1272775183CNNM4c.2163G= (p.Leu721=)
c.2226G= (p.Leu742=)
c.2251G= (p.Gly751=)
c.624G= (p.Leu208=)
2g.96809352G>TCA427519376CNNM4c.2163G>T (p.Leu721=)
c.2226G>T (p.Leu742=)
c.2251G>T (p.Gly751Cys)
c.624G>T (p.Leu208=)
2g.96809353G>ACA347709467CNNM4c.2164G>A (p.Ala722Thr)
c.2227G>A (p.Ala743Thr)
c.2252G>A (p.Gly751Asp)
c.625G>A (p.Ala209Thr)
2g.96809353G>CCA347709472CNNM4c.2164G>C (p.Ala722Pro)
c.2227G>C (p.Ala743Pro)
c.2252G>C (p.Gly751Ala)
c.625G>C (p.Ala209Pro)
2g.96809353G>TCA347709470CNNM4c.2164G>T (p.Ala722Ser)
c.2227G>T (p.Ala743Ser)
c.2252G>T (p.Gly751Val)
c.625G>T (p.Ala209Ser)
2g.96809354C>ACA347709477CNNM4c.2165C>A (p.Ala722Asp)
c.2228C>A (p.Ala743Asp)
c.2253C>A (p.Gly751=)
c.626C>A (p.Ala209Asp)
2g.96809354C>GCA347709479CNNM4c.2165C>G (p.Ala722Gly)
c.2228C>G (p.Ala743Gly)
c.2253C>G (p.Gly751=)
c.626C>G (p.Ala209Gly)
2g.96809354C>TCA347709482CNNM4c.2165C>T (p.Ala722Val)
c.2228C>T (p.Ala743Val)
c.2253C>T (p.Gly751=)
c.626C>T (p.Ala209Val)
 gnomAD v4
2g.96809355T>ACA427519385CNNM4c.2166T>A (p.Ala722=)
c.2229T>A (p.Ala743=)
c.2254T>A (p.Phe752Ile)
c.627T>A (p.Ala209=)
2g.96809355T>CCA427519384CNNM4c.2166T>C (p.Ala722=)
c.2229T>C (p.Ala743=)
c.2254T>C (p.Phe752Leu)
c.627T>C (p.Ala209=)
2g.96809355T>GCA427519383CNNM4c.2166T>G (p.Ala722=)
c.2229T>G (p.Ala743=)
c.2254T>G (p.Phe752Val)
c.627T>G (p.Ala209=)
2g.96809356T>ACA347709486CNNM4c.2167T>A (p.Ser723Thr)
c.2230T>A (p.Ser744Thr)
c.2255T>A (p.Phe752Tyr)
c.628T>A (p.Ser210Thr)
2g.96809356T>CCA347709489CNNM4c.2167T>C (p.Ser723Pro)
c.2230T>C (p.Ser744Pro)
c.2255T>C (p.Phe752Ser)
c.628T>C (p.Ser210Pro)
2g.96809356T>GCA347709492CNNM4c.2167T>G (p.Ser723Ala)
c.2230T>G (p.Ser744Ala)
c.2255T>G (p.Phe752Cys)
c.628T>G (p.Ser210Ala)
 gnomAD v4
2g.96809357C>ACA347709495CNNM4c.2168C>A (p.Ser723Tyr)
c.2231C>A (p.Ser744Tyr)
c.2256C>A (p.Phe752Leu)
c.629C>A (p.Ser210Tyr)
2g.96809357C=CA1272775184CNNM4c.2168C= (p.Ser723=)
c.2231C= (p.Ser744=)
c.2256C= (p.Phe752=)
c.629C= (p.Ser210=)
2g.96809357C>GCA347709498CNNM4c.2168C>G (p.Ser723Cys)
c.2231C>G (p.Ser744Cys)
c.2256C>G (p.Phe752Leu)
c.629C>G (p.Ser210Cys)
 dbSNP
2g.96809357C>TCA1783606CNNM4c.2168C>T (p.Ser723Phe)
c.2231C>T (p.Ser744Phe)
c.2256C>T (p.Phe752=)
c.629C>T (p.Ser210Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96809358T>ACA427519389CNNM4c.2169T>A (p.Ser723=)
c.2232T>A (p.Ser744=)
c.2257T>A (p.Ser753Thr)
c.630T>A (p.Ser210=)
 dbSNP
2g.96809358T>CCA427519391CNNM4c.2169T>C (p.Ser723=)
c.2232T>C (p.Ser744=)
c.2257T>C (p.Ser753Pro)
c.630T>C (p.Ser210=)
2g.96809358T>GCA427519390CNNM4c.2169T>G (p.Ser723=)
c.2232T>G (p.Ser744=)
c.2257T>G (p.Ser753Ala)
c.630T>G (p.Ser210=)
2g.96809358T=CA1272775185CNNM4c.2169T= (p.Ser723=)
c.2232T= (p.Ser744=)
c.2257T= (p.Ser753=)
c.630T= (p.Ser210=)
2g.96809359C>ACA347709503CNNM4c.2170C>A (p.Arg724Ser)
c.2233C>A (p.Arg745Ser)
c.2258C>A (p.Ser753Ter)
c.631C>A (p.Arg211Ser)
 dbSNP gnomAD v2
2g.96809359C=CA1272775186CNNM4c.2170C= (p.Arg724=)
c.2233C= (p.Arg745=)
c.2258C= (p.Ser753=)
c.631C= (p.Arg211=)
2g.96809359C>GCA347709506CNNM4c.2170C>G (p.Arg724Gly)
c.2233C>G (p.Arg745Gly)
c.2258C>G (p.Ser753Trp)
c.631C>G (p.Arg211Gly)
2g.96809359C>TCA347709509CNNM4c.2170C>T (p.Arg724Cys)
c.2233C>T (p.Arg745Cys)
c.2258C>T (p.Ser753Leu)
c.631C>T (p.Arg211Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96809360G>ACA1783607CNNM4c.2171G>A (p.Arg724His)
c.2234G>A (p.Arg745His)
c.2259G>A (p.Ser753=)
c.632G>A (p.Arg211His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96809360G>CCA347709516CNNM4c.2171G>C (p.Arg724Pro)
c.2234G>C (p.Arg745Pro)
c.2259G>C (p.Ser753=)
c.632G>C (p.Arg211Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.96809360G=CA1272775187CNNM4c.2171G= (p.Arg724=)
c.2234G= (p.Arg745=)
c.2259G= (p.Ser753=)
c.632G= (p.Arg211=)
2g.96809360G>TCA347709513CNNM4c.2171G>T (p.Arg724Leu)
c.2234G>T (p.Arg745Leu)
c.2259G>T (p.Ser753=)
c.632G>T (p.Arg211Leu)
 dbSNP
2g.96809361C>ACA427519394CNNM4c.2172C>A (p.Arg724=)
c.2235C>A (p.Arg745=)
c.2260C>A (p.His754Asn)
c.633C>A (p.Arg211=)
2g.96809361C=CA1272775188CNNM4c.2172C= (p.Arg724=)
c.2235C= (p.Arg745=)
c.2260C= (p.His754=)
c.633C= (p.Arg211=)
2g.96809361C>GCA427519395CNNM4c.2172C>G (p.Arg724=)
c.2235C>G (p.Arg745=)
c.2260C>G (p.His754Asp)
c.633C>G (p.Arg211=)
 dbSNP
2g.96809361C>TCA427519396CNNM4c.2172C>T (p.Arg724=)
c.2235C>T (p.Arg745=)
c.2260C>T (p.His754Tyr)
c.633C>T (p.Arg211=)
2g.96809362A=CA1272775189CNNM4c.2173A= (p.Met725=)
c.2236A= (p.Met746=)
c.2261A= (p.His754=)
c.634A= (p.Met212=)
2g.96809362A>CCA347709520CNNM4c.2173A>C (p.Met725Leu)
c.2236A>C (p.Met746Leu)
c.2261A>C (p.His754Pro)
c.634A>C (p.Met212Leu)
2g.96809362A>GCA1783608CNNM4c.2173A>G (p.Met725Val)
c.2236A>G (p.Met746Val)
c.2261A>G (p.His754Arg)
c.634A>G (p.Met212Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96809362A>TCA347709523CNNM4c.2173A>T (p.Met725Leu)
c.2236A>T (p.Met746Leu)
c.2261A>T (p.His754Leu)
c.634A>T (p.Met212Leu)
2g.96809363T>ACA347709529CNNM4c.2174T>A (p.Met725Lys)
c.2237T>A (p.Met746Lys)
c.2262T>A (p.His754Gln)
c.635T>A (p.Met212Lys)
2g.96809363T>CCA347709533CNNM4c.2174T>C (p.Met725Thr)
c.2237T>C (p.Met746Thr)
c.2262T>C (p.His754=)
c.635T>C (p.Met212Thr)
2g.96809363T>GCA347709531CNNM4c.2174T>G (p.Met725Arg)
c.2237T>G (p.Met746Arg)
c.2262T>G (p.His754Gln)
c.635T>G (p.Met212Arg)
 gnomAD v4
2g.96809364G>ACA347709538CNNM4c.2175G>A (p.Met725Ile)
c.2238G>A (p.Met746Ile)
c.2263G>A (p.Gly755Arg)
c.636G>A (p.Met212Ile)
2g.96809364G>CCA347709540CNNM4c.2175G>C (p.Met725Ile)
c.2238G>C (p.Met746Ile)
c.2263G>C (p.Gly755Arg)
c.636G>C (p.Met212Ile)
2g.96809364G>TCA347709543CNNM4c.2175G>T (p.Met725Ile)
c.2238G>T (p.Met746Ile)
c.2263G>T (p.Gly755Ter)
c.636G>T (p.Met212Ile)
 gnomAD v4
2g.96809365G>ACA347709546CNNM4c.2176G>A (p.Glu726Lys)
c.2239G>A (p.Glu747Lys)
c.2264G>A (p.Gly755Glu)
c.637G>A (p.Glu213Lys)
2g.96809365G>CCA347709547CNNM4c.2176G>C (p.Glu726Gln)
c.2239G>C (p.Glu747Gln)
c.2264G>C (p.Gly755Ala)
c.637G>C (p.Glu213Gln)
2g.96809365G>TCA347709549CNNM4c.2176G>T (p.Glu726Ter)
c.2239G>T (p.Glu747Ter)
c.2264G>T (p.Gly755Val)
c.637G>T (p.Glu213Ter)
2g.96809366A>CCA347709553CNNM4c.2177A>C (p.Glu726Ala)
c.2240A>C (p.Glu747Ala)
c.2265A>C (p.Gly755=)
c.638A>C (p.Glu213Ala)
2g.96809366A>GCA347709555CNNM4c.2177A>G (p.Glu726Gly)
c.2240A>G (p.Glu747Gly)
c.2265A>G (p.Gly755=)
c.638A>G (p.Glu213Gly)
2g.96809366A>TCA347709557CNNM4c.2177A>T (p.Glu726Val)
c.2240A>T (p.Glu747Val)
c.2265A>T (p.Gly755=)
c.638A>T (p.Glu213Val)
2g.96809367G>ACA427519403CNNM4c.2178G>A (p.Glu726=)
c.2241G>A (p.Glu747=)
c.2266G>A (p.Glu756Lys)
c.639G>A (p.Glu213=)
2g.96809367G>CCA347709561CNNM4c.2178G>C (p.Glu726Asp)
c.2241G>C (p.Glu747Asp)
c.2266G>C (p.Glu756Gln)
c.639G>C (p.Glu213Asp)
 gnomAD v4
2g.96809367G>TCA347709563CNNM4c.2178G>T (p.Glu726Asp)
c.2241G>T (p.Glu747Asp)
c.2266G>T (p.Glu756Ter)
c.639G>T (p.Glu213Asp)
2g.96809368A>CCA347709567CNNM4c.2179A>C (p.Asn727His)
c.2242A>C (p.Asn748His)
c.2267A>C (p.Glu756Ala)
c.640A>C (p.Asn214His)
2g.96809368A>GCA347709572CNNM4c.2179A>G (p.Asn727Asp)
c.2242A>G (p.Asn748Asp)
c.2267A>G (p.Glu756Gly)
c.640A>G (p.Asn214Asp)
2g.96809368A>TCA347709570CNNM4c.2179A>T (p.Asn727Tyr)
c.2242A>T (p.Asn748Tyr)
c.2267A>T (p.Glu756Val)
c.640A>T (p.Asn214Tyr)
2g.96809369A=CA1272775190CNNM4c.2180A= (p.Asn727=)
c.2243A= (p.Asn748=)
c.2268A= (p.Glu756=)
c.641A= (p.Asn214=)
2g.96809369A>CCA347709575CNNM4c.2180A>C (p.Asn727Thr)
c.2243A>C (p.Asn748Thr)
c.2268A>C (p.Glu756Asp)
c.641A>C (p.Asn214Thr)
2g.96809369A>GCA347709577CNNM4c.2180A>G (p.Asn727Ser)
c.2243A>G (p.Asn748Ser)
c.2268A>G (p.Glu756=)
c.641A>G (p.Asn214Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.96809369A>TCA347709580CNNM4c.2180A>T (p.Asn727Ile)
c.2243A>T (p.Asn748Ile)
c.2268A>T (p.Glu756Asp)
c.641A>T (p.Asn214Ile)
2g.96809370C>ACA347709582CNNM4c.2181C>A (p.Asn727Lys)
c.2244C>A (p.Asn748Lys)
c.2269C>A (p.Gln757Lys)
c.642C>A (p.Asn214Lys)
2g.96809370C=CA1272775191CNNM4c.2181C= (p.Asn727=)
c.2244C= (p.Asn748=)
c.2269C= (p.Gln757=)
c.642C= (p.Asn214=)
2g.96809370C>GCA347709585CNNM4c.2181C>G (p.Asn727Lys)
c.2244C>G (p.Asn748Lys)
c.2269C>G (p.Gln757Glu)
c.642C>G (p.Asn214Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96809370C>TCA1783609CNNM4c.2181C>T (p.Asn727=)
c.2244C>T (p.Asn748=)
c.2269C>T (p.Gln757Ter)
c.642C>T (p.Asn214=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96809371A>CCA347709592CNNM4c.2182A>C (p.Ser728Arg)
c.2245A>C (p.Ser749Arg)
c.2270A>C (p.Gln757Pro)
c.643A>C (p.Ser215Arg)
2g.96809371A>GCA347709594CNNM4c.2182A>G (p.Ser728Gly)
c.2245A>G (p.Ser749Gly)
c.2270A>G (p.Gln757Arg)
c.643A>G (p.Ser215Gly)
2g.96809371A>TCA347709598CNNM4c.2182A>T (p.Ser728Cys)
c.2245A>T (p.Ser749Cys)
c.2270A>T (p.Gln757Leu)
c.643A>T (p.Ser215Cys)
2g.96809372G>ACA347709604CNNM4c.2183G>A (p.Ser728Asn)
c.2246G>A (p.Ser749Asn)
c.2271G>A (p.Gln757=)
c.644G>A (p.Ser215Asn)
2g.96809372G>CCA347709607CNNM4c.2183G>C (p.Ser728Thr)
c.2246G>C (p.Ser749Thr)
c.2271G>C (p.Gln757His)
c.644G>C (p.Ser215Thr)
2g.96809372G>TCA347709602CNNM4c.2183G>T (p.Ser728Ile)
c.2246G>T (p.Ser749Ile)
c.2271G>T (p.Gln757His)
c.644G>T (p.Ser215Ile)
2g.96809373C>ACA1783610CNNM4c.2184C>A (p.Ser728Arg)
c.2247C>A (p.Ser749Arg)
c.2272C>A (p.Pro758Thr)
c.645C>A (p.Ser215Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96809373C=CA1272775192CNNM4c.2184C= (p.Ser728=)
c.2247C= (p.Ser749=)
c.2272C= (p.Pro758=)
c.645C= (p.Ser215=)
2g.96809373C>GCA347709613CNNM4c.2184C>G (p.Ser728Arg)
c.2247C>G (p.Ser749Arg)
c.2272C>G (p.Pro758Ala)
c.645C>G (p.Ser215Arg)
2g.96809373C>TCA427519411CNNM4c.2184C>T (p.Ser728=)
c.2247C>T (p.Ser749=)
c.2272C>T (p.Pro758Ser)
c.645C>T (p.Ser215=)
2g.96809374C>ACA347709616CNNM4c.2185C>A (p.Pro729Thr)
c.2248C>A (p.Pro750Thr)
c.2273C>A (p.Pro758His)
c.646C>A (p.Pro216Thr)
2g.96809374C>GCA347709618CNNM4c.2185C>G (p.Pro729Ala)
c.2248C>G (p.Pro750Ala)
c.2273C>G (p.Pro758Arg)
c.646C>G (p.Pro216Ala)
2g.96809374C>TCA347709620CNNM4c.2185C>T (p.Pro729Ser)
c.2248C>T (p.Pro750Ser)
c.2273C>T (p.Pro758Leu)
c.646C>T (p.Pro216Ser)
2g.96809375C>ACA347709624CNNM4c.2186C>A (p.Pro729His)
c.2249C>A (p.Pro750His)
c.2274C>A (p.Pro758=)
c.647C>A (p.Pro216His)
2g.96809375C>GCA347709627CNNM4c.2186C>G (p.Pro729Arg)
c.2249C>G (p.Pro750Arg)
c.2274C>G (p.Pro758=)
c.647C>G (p.Pro216Arg)
2g.96809375C>TCA347709629CNNM4c.2186C>T (p.Pro729Leu)
c.2249C>T (p.Pro750Leu)
c.2274C>T (p.Pro758=)
c.647C>T (p.Pro216Leu)
2g.96809376T>ACA427519412CNNM4c.2187T>A (p.Pro729=)
c.2250T>A (p.Pro750=)
c.2275T>A (p.Ser759Thr)
c.648T>A (p.Pro216=)
2g.96809376T>CCA427519413CNNM4c.2187T>C (p.Pro729=)
c.2250T>C (p.Pro750=)
c.2275T>C (p.Ser759Pro)
c.648T>C (p.Pro216=)
2g.96809376T>GCA427519414CNNM4c.2187T>G (p.Pro729=)
c.2250T>G (p.Pro750=)
c.2275T>G (p.Ser759Ala)
c.648T>G (p.Pro216=)
2g.96809377C>ACA347709632CNNM4c.2188C>A (p.Gln730Lys)
c.2251C>A (p.Gln751Lys)
c.2276C>A (p.Ser759Ter)
c.649C>A (p.Gln217Lys)
 gnomAD v4
2g.96809377C>GCA347709634CNNM4c.2188C>G (p.Gln730Glu)
c.2251C>G (p.Gln751Glu)
c.2276C>G (p.Ser759Ter)
c.649C>G (p.Gln217Glu)
 COSMIC COSMIC
2g.96809377C>TCA347709637CNNM4c.2188C>T (p.Gln730Ter)
c.2251C>T (p.Gln751Ter)
c.2276C>T (p.Ser759Leu)
c.649C>T (p.Gln217Ter)
 COSMIC COSMIC
2g.96809378A=CA1272775193CNNM4c.2189A= (p.Gln730=)
c.2252A= (p.Gln751=)
c.2277A= (p.Ser759=)
c.650A= (p.Gln217=)
2g.96809378A>CCA347709646CNNM4c.2189A>C (p.Gln730Pro)
c.2252A>C (p.Gln751Pro)
c.2277A>C (p.Ser759=)
c.650A>C (p.Gln217Pro)
2g.96809378A>GCA1783611CNNM4c.2189A>G (p.Gln730Arg)
c.2252A>G (p.Gln751Arg)
c.2277A>G (p.Ser759=)
c.650A>G (p.Gln217Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96809378A>TCA347709642CNNM4c.2189A>T (p.Gln730Leu)
c.2252A>T (p.Gln751Leu)
c.2277A>T (p.Ser759=)
c.650A>T (p.Gln217Leu)
2g.96809379G>ACA427519418CNNM4c.2190G>A (p.Gln730=)
c.2253G>A (p.Gln751=)
c.2278G>A (p.Val760Ile)
c.651G>A (p.Gln217=)
2g.96809379G>CCA347709649CNNM4c.2190G>C (p.Gln730His)
c.2253G>C (p.Gln751His)
c.2278G>C (p.Val760Leu)
c.651G>C (p.Gln217His)
2g.96809379G>TCA347709651CNNM4c.2190G>T (p.Gln730His)
c.2253G>T (p.Gln751His)
c.2278G>T (p.Val760Phe)
c.651G>T (p.Gln217His)
2g.96809380T>ACA347709654CNNM4c.2191T>A (p.Phe731Ile)
c.2254T>A (p.Phe752Ile)
c.2279T>A (p.Val760Asp)
c.652T>A (p.Phe218Ile)
2g.96809380T>CCA347709657CNNM4c.2191T>C (p.Phe731Leu)
c.2254T>C (p.Phe752Leu)
c.2279T>C (p.Val760Ala)
c.652T>C (p.Phe218Leu)
2g.96809380T>GCA347709660CNNM4c.2191T>G (p.Phe731Val)
c.2254T>G (p.Phe752Val)
c.2279T>G (p.Val760Gly)
c.652T>G (p.Phe218Val)
2g.96809381T>ACA347709663CNNM4c.2192T>A (p.Phe731Tyr)
c.2255T>A (p.Phe752Tyr)
c.2280T>A (p.Val760=)
c.653T>A (p.Phe218Tyr)
2g.96809381T>CCA347709665CNNM4c.2192T>C (p.Phe731Ser)
c.2255T>C (p.Phe752Ser)
c.2280T>C (p.Val760=)
c.653T>C (p.Phe218Ser)
2g.96809381T>GCA347709668CNNM4c.2192T>G (p.Phe731Cys)
c.2255T>G (p.Phe752Cys)
c.2280T>G (p.Val760=)
c.653T>G (p.Phe218Cys)
2g.96809382T>ACA347709672CNNM4c.2193T>A (p.Phe731Leu)
c.2256T>A (p.Phe752Leu)
c.2281T>A (p.Ser761Thr)
c.654T>A (p.Phe218Leu)
2g.96809382T>CCA427519421CNNM4c.2193T>C (p.Phe731=)
c.2256T>C (p.Phe752=)
c.2281T>C (p.Ser761Pro)
c.654T>C (p.Phe218=)
2g.96809382T>GCA347709674CNNM4c.2193T>G (p.Phe731Leu)
c.2256T>G (p.Phe752Leu)
c.2281T>G (p.Ser761Ala)
c.654T>G (p.Phe218Leu)
2g.96809383C>ACA347709679CNNM4c.2194C>A (p.Pro732Thr)
c.2257C>A (p.Pro753Thr)
c.2282C>A (p.Ser761Tyr)
c.655C>A (p.Pro219Thr)
2g.96809383C=CA1272775194CNNM4c.2194C= (p.Pro732=)
c.2257C= (p.Pro753=)
c.2282C= (p.Ser761=)
c.655C= (p.Pro219=)
2g.96809383C>GCA347709681CNNM4c.2194C>G (p.Pro732Ala)
c.2257C>G (p.Pro753Ala)
c.2282C>G (p.Ser761Cys)
c.655C>G (p.Pro219Ala)
2g.96809383C>TCA52461438CNNM4c.2194C>T (p.Pro732Ser)
c.2257C>T (p.Pro753Ser)
c.2282C>T (p.Ser761Phe)
c.655C>T (p.Pro219Ser)
 dbSNP gnomAD v4
2g.96809384C>ACA347709688CNNM4c.2195C>A (p.Pro732His)
c.2258C>A (p.Pro753His)
c.2283C>A (p.Ser761=)
c.656C>A (p.Pro219His)
2g.96809384C>GCA347709689CNNM4c.2195C>G (p.Pro732Arg)
c.2258C>G (p.Pro753Arg)
c.2283C>G (p.Ser761=)
c.656C>G (p.Pro219Arg)
2g.96809384C>TCA347709685CNNM4c.2195C>T (p.Pro732Leu)
c.2258C>T (p.Pro753Leu)
c.2283C>T (p.Ser761=)
c.656C>T (p.Pro219Leu)
2g.96809385C>ACA427519424CNNM4c.2196C>A (p.Pro732=)
c.2259C>A (p.Pro753=)
c.2284C>A (p.His762Asn)
c.657C>A (p.Pro219=)
2g.96809385C>GCA427519426CNNM4c.2196C>G (p.Pro732=)
c.2259C>G (p.Pro753=)
c.2284C>G (p.His762Asp)
c.657C>G (p.Pro219=)
2g.96809385C>TCA427519428CNNM4c.2196C>T (p.Pro732=)
c.2259C>T (p.Pro753=)
c.2284C>T (p.His762Tyr)
c.657C>T (p.Pro219=)
2g.96809386A>CCA347709696CNNM4c.2197A>C (p.Ile733Leu)
c.2260A>C (p.Ile754Leu)
c.2285A>C (p.His762Pro)
c.658A>C (p.Ile220Leu)
2g.96809386A>GCA347709691CNNM4c.2197A>G (p.Ile733Val)
c.2260A>G (p.Ile754Val)
c.2285A>G (p.His762Arg)
c.658A>G (p.Ile220Val)
2g.96809386A>TCA347709693CNNM4c.2197A>T (p.Ile733Leu)
c.2260A>T (p.Ile754Leu)
c.2285A>T (p.His762Leu)
c.658A>T (p.Ile220Leu)
2g.96809387T>ACA347709698CNNM4c.2198T>A (p.Ile733Lys)
c.2261T>A (p.Ile754Lys)
c.2286T>A (p.His762Gln)
c.659T>A (p.Ile220Lys)
2g.96809387T>CCA52461443CNNM4c.2198T>C (p.Ile733Thr)
c.2261T>C (p.Ile754Thr)
c.2286T>C (p.His762=)
c.659T>C (p.Ile220Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.96809387T>GCA347709702CNNM4c.2198T>G (p.Ile733Arg)
c.2261T>G (p.Ile754Arg)
c.2286T>G (p.His762Gln)
c.659T>G (p.Ile220Arg)
2g.96809387T=CA1272775195CNNM4c.2198T= (p.Ile733=)
c.2261T= (p.Ile754=)
c.2286T= (p.His762=)
c.659T= (p.Ile220=)
2g.96809388A=CA1272775196CNNM4c.2199A= (p.Ile733=)
c.2262A= (p.Ile754=)
c.2287A= (p.Arg763=)
c.660A= (p.Ile220=)
2g.96809388A>CCA427519430CNNM4c.2199A>C (p.Ile733=)
c.2262A>C (p.Ile754=)
c.2287A>C (p.Arg763=)
c.660A>C (p.Ile220=)
2g.96809388A>GCA347709705CNNM4c.2199A>G (p.Ile733Met)
c.2262A>G (p.Ile754Met)
c.2287A>G (p.Arg763Gly)
c.660A>G (p.Ile220Met)
2g.96809388A>TCA427519432CNNM4c.2199A>T (p.Ile733=)
c.2262A>T (p.Ile754=)
c.2287A>T (p.Arg763Ter)
c.660A>T (p.Ile220=)
 dbSNP
2g.96809389G>ACA347709709CNNM4c.2200G>A (p.Asp734Asn)
c.2263G>A (p.Asp755Asn)
c.2288G>A (p.Arg763Lys)
c.661G>A (p.Asp221Asn)
2g.96809389G>CCA347709711CNNM4c.2200G>C (p.Asp734His)
c.2263G>C (p.Asp755His)
c.2288G>C (p.Arg763Thr)
c.661G>C (p.Asp221His)
2g.96809389G>TCA347709713CNNM4c.2200G>T (p.Asp734Tyr)
c.2263G>T (p.Asp755Tyr)
c.2288G>T (p.Arg763Ile)
c.661G>T (p.Asp221Tyr)
2g.96809389_96809397delinsGACGGGTGCCA1272775197CNNM4c.2200_2208delinsGACGGGTGC (p.Asp734=)
c.2263_2271delinsGACGGGTGC (p.Asp755=)
c.2288_2296delinsGACGGGTGC (p.Arg763=)
c.661_669delinsGACGGGTGC (p.Asp221=)
2g.96809390A>CCA347709717CNNM4c.2201A>C (p.Asp734Ala)
c.2264A>C (p.Asp755Ala)
c.2289A>C (p.Arg763Ser)
c.662A>C (p.Asp221Ala)
2g.96809390A>GCA347709719CNNM4c.2201A>G (p.Asp734Gly)
c.2264A>G (p.Asp755Gly)
c.2289A>G (p.Arg763=)
c.662A>G (p.Asp221Gly)
2g.96809390A>TCA347709722CNNM4c.2201A>T (p.Asp734Val)
c.2264A>T (p.Asp755Val)
c.2289A>T (p.Arg763Ser)
c.662A>T (p.Asp221Val)
2g.96809390_96809399delinsACGGGTGCACCA1272775198CNNM4c.2201_2210delinsACGGGTGCAC (p.Asp734=)
c.2264_2273delinsACGGGTGCAC (p.Asp755=)
c.2289_2298delinsACGGGTGCAC (p.Arg763=)
c.662_671delinsACGGGTGCAC (p.Asp221=)
2g.96809392_96809399delCA895808753CNNM4c.2203_2210del (p.Gly735HisfsTer11)
c.2266_2273del (p.Gly756HisfsTer11)
c.2291_2298del (p.Arg764ProfsTer?)
c.664_671del (p.Gly222HisfsTer11)
 dbSNP
2g.96809391C>ACA347709737CNNM4c.2202C>A (p.Asp734Glu)
c.2265C>A (p.Asp755Glu)
c.2290C>A (p.Arg764=)
c.663C>A (p.Asp221Glu)
2g.96809391C=CA1272775199CNNM4c.2202C= (p.Asp734=)
c.2265C= (p.Asp755=)
c.2290C= (p.Arg764=)
c.663C= (p.Asp221=)
2g.96809391C>GCA347709735CNNM4c.2202C>G (p.Asp734Glu)
c.2265C>G (p.Asp755Glu)
c.2290C>G (p.Arg764Gly)
c.663C>G (p.Asp221Glu)
2g.96809391C>TCA1783613CNNM4c.2202C>T (p.Asp734=)
c.2265C>T (p.Asp755=)
c.2290C>T (p.Arg764Trp)
c.663C>T (p.Asp221=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96809392_96809400delCA1783612CNNM4c.2203_2211del (p.Gly735_Thr737del)
c.2266_2274del (p.Gly756_Thr758del)
c.2291_2299del (p.Arg764_His766del)
c.664_672del (p.Gly222_Thr224del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96809392G>ACA347709741CNNM4c.2203G>A (p.Gly735Arg)
c.2266G>A (p.Gly756Arg)
c.2291G>A (p.Arg764Gln)
c.664G>A (p.Gly222Arg)
 dbSNP gnomAD v4
2g.96809392G>CCA347709743CNNM4c.2203G>C (p.Gly735Arg)
c.2266G>C (p.Gly756Arg)
c.2291G>C (p.Arg764Pro)
c.664G>C (p.Gly222Arg)
2g.96809392G=CA1272775200CNNM4c.2203G= (p.Gly735=)
c.2266G= (p.Gly756=)
c.2291G= (p.Arg764=)
c.664G= (p.Gly222=)
2g.96809392G>TCA347709745CNNM4c.2203G>T (p.Gly735Trp)
c.2266G>T (p.Gly756Trp)
c.2291G>T (p.Arg764Leu)
c.664G>T (p.Gly222Trp)
 dbSNP
2g.96809393G>ACA347709747CNNM4c.2204G>A (p.Gly735Glu)
c.2267G>A (p.Gly756Glu)
c.2292G>A (p.Arg764=)
c.665G>A (p.Gly222Glu)
 COSMIC COSMIC
2g.96809393G>CCA347709750CNNM4c.2204G>C (p.Gly735Ala)
c.2267G>C (p.Gly756Ala)
c.2292G>C (p.Arg764=)
c.665G>C (p.Gly222Ala)
2g.96809393G>TCA347709753CNNM4c.2204G>T (p.Gly735Val)
c.2267G>T (p.Gly756Val)
c.2292G>T (p.Arg764=)
c.665G>T (p.Gly222Val)
2g.96809394G>ACA427519437CNNM4c.2205G>A (p.Gly735=)
c.2268G>A (p.Gly756=)
c.2293G>A (p.Val765Met)
c.666G>A (p.Gly222=)
2g.96809394G>CCA427519438CNNM4c.2205G>C (p.Gly735=)
c.2268G>C (p.Gly756=)
c.2293G>C (p.Val765Leu)
c.666G>C (p.Gly222=)
2g.96809394G>TCA427519439CNNM4c.2205G>T (p.Gly735=)
c.2268G>T (p.Gly756=)
c.2293G>T (p.Val765Leu)
c.666G>T (p.Gly222=)
 ClinVar
2g.96809395T>ACA347709757CNNM4c.2206T>A (p.Cys736Ser)
c.2269T>A (p.Cys757Ser)
c.2294T>A (p.Val765Glu)
c.667T>A (p.Cys223Ser)
2g.96809395T>CCA347709759CNNM4c.2206T>C (p.Cys736Arg)
c.2269T>C (p.Cys757Arg)
c.2294T>C (p.Val765Ala)
c.667T>C (p.Cys223Arg)
2g.96809395T>GCA347709761CNNM4c.2206T>G (p.Cys736Gly)
c.2269T>G (p.Cys757Gly)
c.2294T>G (p.Val765Gly)
c.667T>G (p.Cys223Gly)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.96809395T=CA1272775201CNNM4c.2206T= (p.Cys736=)
c.2269T= (p.Cys757=)
c.2294T= (p.Val765=)
c.667T= (p.Cys223=)
2g.96809396G>ACA347709764CNNM4c.2207G>A (p.Cys736Tyr)
c.2270G>A (p.Cys757Tyr)
c.2295G>A (p.Val765=)
c.668G>A (p.Cys223Tyr)
 gnomAD v4
2g.96809396G>CCA347709767CNNM4c.2207G>C (p.Cys736Ser)
c.2270G>C (p.Cys757Ser)
c.2295G>C (p.Val765=)
c.668G>C (p.Cys223Ser)
2g.96809396G>TCA347709769CNNM4c.2207G>T (p.Cys736Phe)
c.2270G>T (p.Cys757Phe)
c.2295G>T (p.Val765=)
c.668G>T (p.Cys223Phe)
2g.96809397C>ACA347709771CNNM4c.2208C>A (p.Cys736Ter)
c.2271C>A (p.Cys757Ter)
c.2296C>A (p.His766Asn)
c.669C>A (p.Cys223Ter)
2g.96809397C>GCA347709773CNNM4c.2208C>G (p.Cys736Trp)
c.2271C>G (p.Cys757Trp)
c.2296C>G (p.His766Asp)
c.669C>G (p.Cys223Trp)
2g.96809397C>TCA427519444CNNM4c.2208C>T (p.Cys736=)
c.2271C>T (p.Cys757=)
c.2296C>T (p.His766Tyr)
c.669C>T (p.Cys223=)
 dbSNP
2g.96809398A=CA1272775202CNNM4c.2209A= (p.Thr737=)
c.2272A= (p.Thr758=)
c.2297A= (p.His766=)
c.670A= (p.Thr224=)
2g.96809398A>CCA1783614CNNM4c.2209A>C (p.Thr737Pro)
c.2272A>C (p.Thr758Pro)
c.2297A>C (p.His766Pro)
c.670A>C (p.Thr224Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96809398A>GCA347709777CNNM4c.2209A>G (p.Thr737Ala)
c.2272A>G (p.Thr758Ala)
c.2297A>G (p.His766Arg)
c.670A>G (p.Thr224Ala)
2g.96809398A>TCA347709779CNNM4c.2209A>T (p.Thr737Ser)
c.2272A>T (p.Thr758Ser)
c.2297A>T (p.His766Leu)
c.670A>T (p.Thr224Ser)
2g.96809399C>ACA347709783CNNM4c.2210C>A (p.Thr737Asn)
c.2273C>A (p.Thr758Asn)
c.2298C>A (p.His766Gln)
c.671C>A (p.Thr224Asn)
2g.96809399C>GCA347709785CNNM4c.2210C>G (p.Thr737Ser)
c.2273C>G (p.Thr758Ser)
c.2298C>G (p.His766Gln)
c.671C>G (p.Thr224Ser)
2g.96809399C>TCA347709791CNNM4c.2210C>T (p.Thr737Ile)
c.2273C>T (p.Thr758Ile)
c.2298C>T (p.His766=)
c.671C>T (p.Thr224Ile)
2g.96809400C>ACA427519450CNNM4c.2211C>A (p.Thr737=)
c.2274C>A (p.Thr758=)
c.2299C>A (p.His767Asn)
c.672C>A (p.Thr224=)
2g.96809400C>GCA427519449CNNM4c.2211C>G (p.Thr737=)
c.2274C>G (p.Thr758=)
c.2299C>G (p.His767Asp)
c.672C>G (p.Thr224=)
2g.96809400C>TCA427519448CNNM4c.2211C>T (p.Thr737=)
c.2274C>T (p.Thr758=)
c.2299C>T (p.His767Tyr)
c.672C>T (p.Thr224=)
2g.96809401A>CCA347709794CNNM4c.2212A>C (p.Thr738Pro)
c.2275A>C (p.Thr759Pro)
c.2300A>C (p.His767Pro)
c.673A>C (p.Thr225Pro)
2g.96809401A>GCA347709796CNNM4c.2212A>G (p.Thr738Ala)
c.2275A>G (p.Thr759Ala)
c.2300A>G (p.His767Arg)
c.673A>G (p.Thr225Ala)
2g.96809401A>TCA347709798CNNM4c.2212A>T (p.Thr738Ser)
c.2275A>T (p.Thr759Ser)
c.2300A>T (p.His767Leu)
c.673A>T (p.Thr225Ser)
2g.96809402C>ACA347709802CNNM4c.2213C>A (p.Thr738Asn)
c.2276C>A (p.Thr759Asn)
c.2301C>A (p.His767Gln)
c.674C>A (p.Thr225Asn)
2g.96809402C>GCA347709804CNNM4c.2213C>G (p.Thr738Ser)
c.2276C>G (p.Thr759Ser)
c.2301C>G (p.His767Gln)
c.674C>G (p.Thr225Ser)
 gnomAD v4
2g.96809402C>TCA347709807CNNM4c.2213C>T (p.Thr738Ile)
c.2276C>T (p.Thr759Ile)
c.2301C>T (p.His767=)
c.674C>T (p.Thr225Ile)
 COSMIC COSMIC
2g.96809403C>ACA427519454CNNM4c.2214C>A (p.Thr738=)
c.2277C>A (p.Thr759=)
c.2302C>A (p.Pro768Thr)
c.675C>A (p.Thr225=)
2g.96809403C>GCA427519455CNNM4c.2214C>G (p.Thr738=)
c.2277C>G (p.Thr759=)
c.2302C>G (p.Pro768Ala)
c.675C>G (p.Thr225=)
2g.96809403C>TCA427519456CNNM4c.2214C>T (p.Thr738=)
c.2277C>T (p.Thr759=)
c.2302C>T (p.Pro768Ser)
c.675C>T (p.Thr225=)
2g.96809404C>ACA347709811CNNM4c.2215C>A (p.His739Asn)
c.2278C>A (p.His760Asn)
c.2303C>A (p.Pro768Gln)
c.676C>A (p.His226Asn)
2g.96809404C>GCA347709814CNNM4c.2215C>G (p.His739Asp)
c.2278C>G (p.His760Asp)
c.2303C>G (p.Pro768Arg)
c.676C>G (p.His226Asp)
2g.96809404C>TCA347709809CNNM4c.2215C>T (p.His739Tyr)
c.2278C>T (p.His760Tyr)
c.2303C>T (p.Pro768Leu)
c.676C>T (p.His226Tyr)
2g.96809405A>CCA347709817CNNM4c.2216A>C (p.His739Pro)
c.2279A>C (p.His760Pro)
c.2304A>C (p.Pro768=)
c.677A>C (p.His226Pro)
2g.96809405A>GCA347709820CNNM4c.2216A>G (p.His739Arg)
c.2279A>G (p.His760Arg)
c.2304A>G (p.Pro768=)
c.677A>G (p.His226Arg)
2g.96809405A>TCA347709823CNNM4c.2216A>T (p.His739Leu)
c.2279A>T (p.His760Leu)
c.2304A>T (p.Pro768=)
c.677A>T (p.His226Leu)
2g.96809406C>ACA347709825CNNM4c.2217C>A (p.His739Gln)
c.2280C>A (p.His760Gln)
c.2305C>A (p.His769Asn)
c.678C>A (p.His226Gln)
2g.96809406C>GCA347709828CNNM4c.2217C>G (p.His739Gln)
c.2280C>G (p.His760Gln)
c.2305C>G (p.His769Asp)
c.678C>G (p.His226Gln)
 gnomAD v4
2g.96809406C>TCA427519461CNNM4c.2217C>T (p.His739=)
c.2280C>T (p.His760=)
c.2305C>T (p.His769Tyr)
c.678C>T (p.His226=)
2g.96809407A=CA1272775203CNNM4c.2218A= (p.Met740=)
c.2281A= (p.Met761=)
c.2306A= (p.His769=)
c.679A= (p.Met227=)
2g.96809407A>CCA347709834CNNM4c.2218A>C (p.Met740Leu)
c.2281A>C (p.Met761Leu)
c.2306A>C (p.His769Pro)
c.679A>C (p.Met227Leu)
2g.96809407A>GCA1783615CNNM4c.2218A>G (p.Met740Val)
c.2281A>G (p.Met761Val)
c.2306A>G (p.His769Arg)
c.679A>G (p.Met227Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96809407A>TCA347709833CNNM4c.2218A>T (p.Met740Leu)
c.2281A>T (p.Met761Leu)
c.2306A>T (p.His769Leu)
c.679A>T (p.Met227Leu)
2g.96809408T>ACA347709835CNNM4c.2219T>A (p.Met740Lys)
c.2282T>A (p.Met761Lys)
c.2307T>A (p.His769Gln)
c.680T>A (p.Met227Lys)
2g.96809408T>CCA347709836CNNM4c.2219T>C (p.Met740Thr)
c.2282T>C (p.Met761Thr)
c.2307T>C (p.His769=)
c.680T>C (p.Met227Thr)
 ClinVar dbSNP
2g.96809408T>GCA347709837CNNM4c.2219T>G (p.Met740Arg)
c.2282T>G (p.Met761Arg)
c.2307T>G (p.His769Gln)
c.680T>G (p.Met227Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.96809408T=CA1272775204CNNM4c.2219T= (p.Met740=)
c.2282T= (p.Met761=)
c.2307T= (p.His769=)
c.680T= (p.Met227=)
2g.96809409G>ACA347709838CNNM4c.2220G>A (p.Met740Ile)
c.2283G>A (p.Met761Ile)
c.2308G>A (p.Gly770Arg)
c.681G>A (p.Met227Ile)
2g.96809409G>CCA347709839CNNM4c.2220G>C (p.Met740Ile)
c.2283G>C (p.Met761Ile)
c.2308G>C (p.Gly770Arg)
c.681G>C (p.Met227Ile)
2g.96809409G>TCA347709840CNNM4c.2220G>T (p.Met740Ile)
c.2283G>T (p.Met761Ile)
c.2308G>T (p.Gly770Ter)
c.681G>T (p.Met227Ile)
2g.96809409_96809421delinsGGAGAACTTGGCCCA1272775205CNNM4c.2220_2232delinsGGAGAACTTGGCC (p.Met740=)
c.2283_2295delinsGGAGAACTTGGCC (p.Met761=)
c.2308_2320delinsGGAGAACTTGGCC (p.Gly770=)
c.681_693delinsGGAGAACTTGGCC (p.Met227=)
2g.96809410G>ACA347709843CNNM4c.2221G>A (p.Glu741Lys)
c.2284G>A (p.Glu762Lys)
c.2309G>A (p.Gly770Glu)
c.682G>A (p.Glu228Lys)
2g.96809410G>CCA347709842CNNM4c.2221G>C (p.Glu741Gln)
c.2284G>C (p.Glu762Gln)
c.2309G>C (p.Gly770Ala)
c.682G>C (p.Glu228Gln)
 dbSNP
2g.96809410G=CA1272775206CNNM4c.2221G= (p.Glu741=)
c.2284G= (p.Glu762=)
c.2309G= (p.Gly770=)
c.682G= (p.Glu228=)
2g.96809410G>TCA347709841CNNM4c.2221G>T (p.Glu741Ter)
c.2284G>T (p.Glu762Ter)
c.2309G>T (p.Gly770Val)
c.682G>T (p.Glu228Ter)
2g.96809415_96809426delCA1783616CNNM4c.2226_2237del (p.Asn742_Glu745del)
c.2289_2300del (p.Asn763_Glu766del)
c.2314_2325del (p.Leu772_Glu775del)
c.687_698del (p.Asn229_Glu232del)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96809411A>CCA347709845CNNM4c.2222A>C (p.Glu741Ala)
c.2285A>C (p.Glu762Ala)
c.2310A>C (p.Gly770=)
c.683A>C (p.Glu228Ala)
2g.96809411A>GCA347709844CNNM4c.2222A>G (p.Glu741Gly)
c.2285A>G (p.Glu762Gly)
c.2310A>G (p.Gly770=)
c.683A>G (p.Glu228Gly)
2g.96809411A>TCA347709846CNNM4c.2222A>T (p.Glu741Val)
c.2285A>T (p.Glu762Val)
c.2310A>T (p.Gly770=)
c.683A>T (p.Glu228Val)
2g.96809412G>ACA427519464CNNM4c.2223G>A (p.Glu741=)
c.2286G>A (p.Glu762=)
c.2311G>A (p.Glu771Lys)
c.684G>A (p.Glu228=)
2g.96809412G>CCA347709847CNNM4c.2223G>C (p.Glu741Asp)
c.2286G>C (p.Glu762Asp)
c.2311G>C (p.Glu771Gln)
c.684G>C (p.Glu228Asp)
2g.96809412G>TCA347709848CNNM4c.2223G>T (p.Glu741Asp)
c.2286G>T (p.Glu762Asp)
c.2311G>T (p.Glu771Ter)
c.684G>T (p.Glu228Asp)
2g.96809413A>CCA347709849CNNM4c.2224A>C (p.Asn742His)
c.2287A>C (p.Asn763His)
c.2312A>C (p.Glu771Ala)
c.685A>C (p.Asn229His)
2g.96809413A>GCA347709851CNNM4c.2224A>G (p.Asn742Asp)
c.2287A>G (p.Asn763Asp)
c.2312A>G (p.Glu771Gly)
c.685A>G (p.Asn229Asp)
2g.96809413A>TCA347709850CNNM4c.2224A>T (p.Asn742Tyr)
c.2287A>T (p.Asn763Tyr)
c.2312A>T (p.Glu771Val)
c.685A>T (p.Asn229Tyr)
2g.96809414A>CCA347709852CNNM4c.2225A>C (p.Asn742Thr)
c.2288A>C (p.Asn763Thr)
c.2313A>C (p.Glu771Asp)
c.686A>C (p.Asn229Thr)
2g.96809414A>GCA347709853CNNM4c.2225A>G (p.Asn742Ser)
c.2288A>G (p.Asn763Ser)
c.2313A>G (p.Glu771=)
c.686A>G (p.Asn229Ser)
 gnomAD v4
2g.96809414A>TCA347709854CNNM4c.2225A>T (p.Asn742Ile)
c.2288A>T (p.Asn763Ile)
c.2313A>T (p.Glu771Asp)
c.686A>T (p.Asn229Ile)
2g.96809415C>ACA347709855CNNM4c.2226C>A (p.Asn742Lys)
c.2289C>A (p.Asn763Lys)
c.2314C>A (p.Leu772Ile)
c.687C>A (p.Asn229Lys)
2g.96809415C>GCA347709856CNNM4c.2226C>G (p.Asn742Lys)
c.2289C>G (p.Asn763Lys)
c.2314C>G (p.Leu772Val)
c.687C>G (p.Asn229Lys)
2g.96809415C>TCA427519467CNNM4c.2226C>T (p.Asn742=)
c.2289C>T (p.Asn763=)
c.2314C>T (p.Leu772Phe)
c.687C>T (p.Asn229=)
2g.96809416T>ACA347709857CNNM4c.2227T>A (p.Leu743Met)
c.2290T>A (p.Leu764Met)
c.2315T>A (p.Leu772His)
c.688T>A (p.Leu230Met)
2g.96809416T>CCA427519468CNNM4c.2227T>C (p.Leu743=)
c.2290T>C (p.Leu764=)
c.2315T>C (p.Leu772Pro)
c.688T>C (p.Leu230=)
 gnomAD v4
2g.96809416T>GCA347709858CNNM4c.2227T>G (p.Leu743Val)
c.2290T>G (p.Leu764Val)
c.2315T>G (p.Leu772Arg)
c.688T>G (p.Leu230Val)
2g.96809417T>ACA347709861CNNM4c.2228T>A (p.Leu743Ter)
c.2291T>A (p.Leu764Ter)
c.2316T>A (p.Leu772=)
c.689T>A (p.Leu230Ter)
2g.96809417T>CCA347709859CNNM4c.2228T>C (p.Leu743Ser)
c.2291T>C (p.Leu764Ser)
c.2316T>C (p.Leu772=)
c.689T>C (p.Leu230Ser)
 dbSNP gnomAD v4
2g.96809417T>GCA347709860CNNM4c.2228T>G (p.Leu743Trp)
c.2291T>G (p.Leu764Trp)
c.2316T>G (p.Leu772=)
c.689T>G (p.Leu230Trp)
2g.96809417T=CA1272775207CNNM4c.2228T= (p.Leu743=)
c.2291T= (p.Leu764=)
c.2316T= (p.Leu772=)
c.689T= (p.Leu230=)
2g.96809418G>ACA427519472CNNM4c.2229G>A (p.Leu743=)
c.2292G>A (p.Leu764=)
c.2317G>A (p.Gly773Ser)
c.690G>A (p.Leu230=)
2g.96809418G>CCA347709862CNNM4c.2229G>C (p.Leu743Phe)
c.2292G>C (p.Leu764Phe)
c.2317G>C (p.Gly773Arg)
c.690G>C (p.Leu230Phe)
2g.96809418G>TCA347709863CNNM4c.2229G>T (p.Leu743Phe)
c.2292G>T (p.Leu764Phe)
c.2317G>T (p.Gly773Cys)
c.690G>T (p.Leu230Phe)
2g.96809419G>ACA1783617CNNM4c.2230G>A (p.Ala744Thr)
c.2293G>A (p.Ala765Thr)
c.2318G>A (p.Gly773Asp)
c.691G>A (p.Ala231Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96809419G>CCA347709864CNNM4c.2230G>C (p.Ala744Pro)
c.2293G>C (p.Ala765Pro)
c.2318G>C (p.Gly773Ala)
c.691G>C (p.Ala231Pro)
2g.96809419G=CA1272775208CNNM4c.2230G= (p.Ala744=)
c.2293G= (p.Ala765=)
c.2318G= (p.Gly773=)
c.691G= (p.Ala231=)
2g.96809419G>TCA347709865CNNM4c.2230G>T (p.Ala744Ser)
c.2293G>T (p.Ala765Ser)
c.2318G>T (p.Gly773Val)
c.691G>T (p.Ala231Ser)
2g.96809420C>ACA347709866CNNM4c.2231C>A (p.Ala744Asp)
c.2294C>A (p.Ala765Asp)
c.2319C>A (p.Gly773=)
c.692C>A (p.Ala231Asp)
2g.96809420C>GCA347709868CNNM4c.2231C>G (p.Ala744Gly)
c.2294C>G (p.Ala765Gly)
c.2319C>G (p.Gly773=)
c.692C>G (p.Ala231Gly)
2g.96809420C>TCA347709867CNNM4c.2231C>T (p.Ala744Val)
c.2294C>T (p.Ala765Val)
c.2319C>T (p.Gly773=)
c.692C>T (p.Ala231Val)
2g.96809421C>ACA1783619CNNM4c.2232C>A (p.Ala744=)
c.2295C>A (p.Ala765=)
c.2320C>A (p.Arg774=)
c.693C>A (p.Ala231=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96809421C=CA1272775209CNNM4c.2232C= (p.Ala744=)
c.2295C= (p.Ala765=)
c.2320C= (p.Arg774=)
c.693C= (p.Ala231=)
2g.96809421C>GCA52461475CNNM4c.2232C>G (p.Ala744=)
c.2295C>G (p.Ala765=)
c.2320C>G (p.Arg774Gly)
c.693C>G (p.Ala231=)
 ClinVar dbSNP gnomAD v4
2g.96809421C>TCA1783618CNNM4c.2232C>T (p.Ala744=)
c.2295C>T (p.Ala765=)
c.2320C>T (p.Arg774Ter)
c.693C>T (p.Ala231=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96809422G>ACA1783620CNNM4c.2233G>A (p.Glu745Lys)
c.2296G>A (p.Glu766Lys)
c.2321G>A (p.Arg774Gln)
c.694G>A (p.Glu232Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96809422G>CCA347709869CNNM4c.2233G>C (p.Glu745Gln)
c.2296G>C (p.Glu766Gln)
c.2321G>C (p.Arg774Pro)
c.694G>C (p.Glu232Gln)
2g.96809422G=CA1272775210CNNM4c.2233G= (p.Glu745=)
c.2296G= (p.Glu766=)
c.2321G= (p.Arg774=)
c.694G= (p.Glu232=)
2g.96809422G>TCA347709870CNNM4c.2233G>T (p.Glu745Ter)
c.2296G>T (p.Glu766Ter)
c.2321G>T (p.Arg774Leu)
c.694G>T (p.Glu232Ter)
2g.96809423A>CCA347709871CNNM4c.2234A>C (p.Glu745Ala)
c.2297A>C (p.Glu766Ala)
c.2322A>C (p.Arg774=)
c.695A>C (p.Glu232Ala)
2g.96809423A>GCA347709872CNNM4c.2234A>G (p.Glu745Gly)
c.2297A>G (p.Glu766Gly)
c.2322A>G (p.Arg774=)
c.695A>G (p.Glu232Gly)
2g.96809423A>TCA347709873CNNM4c.2234A>T (p.Glu745Val)
c.2297A>T (p.Glu766Val)
c.2322A>T (p.Arg774=)
c.695A>T (p.Glu232Val)
2g.96809424G>ACA427519474CNNM4c.2235G>A (p.Glu745=)
c.2298G>A (p.Glu766=)
c.2323G>A (p.Glu775Lys)
c.696G>A (p.Glu232=)
2g.96809424G>CCA347709874CNNM4c.2235G>C (p.Glu745Asp)
c.2298G>C (p.Glu766Asp)
c.2323G>C (p.Glu775Gln)
c.696G>C (p.Glu232Asp)
 gnomAD v4 COSMIC COSMIC
2g.96809424G>TCA347709875CNNM4c.2235G>T (p.Glu745Asp)
c.2298G>T (p.Glu766Asp)
c.2323G>T (p.Glu775Ter)
c.696G>T (p.Glu232Asp)
2g.96809425A>CCA347709878CNNM4c.2236A>C (p.Lys746Gln)
c.2299A>C (p.Lys767Gln)
c.2324A>C (p.Glu775Ala)
c.697A>C (p.Lys233Gln)
2g.96809425A>GCA347709876CNNM4c.2236A>G (p.Lys746Glu)
c.2299A>G (p.Lys767Glu)
c.2324A>G (p.Glu775Gly)
c.697A>G (p.Lys233Glu)
2g.96809425A>TCA347709877CNNM4c.2236A>T (p.Lys746Ter)
c.2299A>T (p.Lys767Ter)
c.2324A>T (p.Glu775Val)
c.697A>T (p.Lys233Ter)
2g.96809426A>CCA347709879CNNM4c.2237A>C (p.Lys746Thr)
c.2300A>C (p.Lys767Thr)
c.2325A>C (p.Glu775Asp)
c.698A>C (p.Lys233Thr)
2g.96809426A>GCA347709880CNNM4c.2237A>G (p.Lys746Arg)
c.2300A>G (p.Lys767Arg)
c.2325A>G (p.Glu775=)
c.698A>G (p.Lys233Arg)
2g.96809426A>TCA347709881CNNM4c.2237A>T (p.Lys746Met)
c.2300A>T (p.Lys767Met)
c.2325A>T (p.Glu775Asp)
c.698A>T (p.Lys233Met)
2g.96809427G>ACA427519475CNNM4c.2238G>A (p.Lys746=)
c.2301G>A (p.Lys767=)
c.2326G>A (p.Val776Ile)
c.699G>A (p.Lys233=)
 ClinVar
2g.96809427G>CCA347709882CNNM4c.2238G>C (p.Lys746Asn)
c.2301G>C (p.Lys767Asn)
c.2326G>C (p.Val776Leu)
c.699G>C (p.Lys233Asn)
2g.96809427G>TCA347709883CNNM4c.2238G>T (p.Lys746Asn)
c.2301G>T (p.Lys767Asn)
c.2326G>T (p.Val776Phe)
c.699G>T (p.Lys233Asn)
2g.96809428T>ACA347709886CNNM4c.2239T>A (p.Ser747Thr)
c.2302T>A (p.Ser768Thr)
c.2327T>A (p.Val776Asp)
c.700T>A (p.Ser234Thr)
2g.96809428T>CCA347709885CNNM4c.2239T>C (p.Ser747Pro)
c.2302T>C (p.Ser768Pro)
c.2327T>C (p.Val776Ala)
c.700T>C (p.Ser234Pro)
2g.96809428T>GCA347709884CNNM4c.2239T>G (p.Ser747Ala)
c.2302T>G (p.Ser768Ala)
c.2327T>G (p.Val776Gly)
c.700T>G (p.Ser234Ala)
2g.96809429C>ACA347709887CNNM4c.2240C>A (p.Ser747Tyr)
c.2303C>A (p.Ser768Tyr)
c.2328C>A (p.Val776=)
c.701C>A (p.Ser234Tyr)
2g.96809429C>GCA347709888CNNM4c.2240C>G (p.Ser747Cys)
c.2303C>G (p.Ser768Cys)
c.2328C>G (p.Val776=)
c.701C>G (p.Ser234Cys)
2g.96809429C>TCA347709889CNNM4c.2240C>T (p.Ser747Phe)
c.2303C>T (p.Ser768Phe)
c.2328C>T (p.Val776=)
c.701C>T (p.Ser234Phe)
2g.96809430T>ACA427519476CNNM4c.2241T>A (p.Ser747=)
c.2304T>A (p.Ser768=)
c.2329T>A (p.Ter777Arg)
c.702T>A (p.Ser234=)
2g.96809430T>CCA427519477CNNM4c.2241T>C (p.Ser747=)
c.2304T>C (p.Ser768=)
c.2329T>C (p.Ter777Arg)
c.702T>C (p.Ser234=)
 gnomAD v4
2g.96809430T>GCA427519478CNNM4c.2241T>G (p.Ser747=)
c.2304T>G (p.Ser768=)
c.2329T>G (p.Ter777Gly)
c.702T>G (p.Ser234=)
2g.96809431G>ACA347709890CNNM4c.2242G>A (p.Glu748Lys)
c.2305G>A (p.Glu769Lys)
c.2330G>A (p.Ter777=)
c.703G>A (p.Glu235Lys)
2g.96809431G>CCA347709891CNNM4c.2242G>C (p.Glu748Gln)
c.2305G>C (p.Glu769Gln)
c.2330G>C (p.Ter777Ser)
c.703G>C (p.Glu235Gln)
2g.96809431G>TCA347709892CNNM4c.2242G>T (p.Glu748Ter)
c.2305G>T (p.Glu769Ter)
c.2330G>T (p.Ter777Leu)
c.703G>T (p.Glu235Ter)
2g.96809432A>CCA347709893CNNM4c.2243A>C (p.Glu748Ala)
c.2306A>C (p.Glu769Ala)
c.2331A>C (p.Ter777Cys)
c.704A>C (p.Glu235Ala)
2g.96809432A>GCA347709895CNNM4c.2243A>G (p.Glu748Gly)
c.2306A>G (p.Glu769Gly)
c.2331A>G (p.Ter777Trp)
c.704A>G (p.Glu235Gly)
2g.96809432A>TCA347709894CNNM4c.2243A>T (p.Glu748Val)
c.2306A>T (p.Glu769Val)
c.2331A>T (p.Ter777Cys)
c.704A>T (p.Glu235Val)
2g.96809433G>ACA1783622CNNM4c.2244G>A (p.Glu748=)
c.2307G>A (p.Glu769=)
c.*1G>A (n.*1G>A)
c.705G>A (p.Glu235=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96809433G>CCA1783621CNNM4c.2244G>C (p.Glu748Asp)
c.2307G>C (p.Glu769Asp)
c.*1G>C (n.*1G>C)
c.705G>C (p.Glu235Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96809433G=CA1272775211CNNM4c.2244G= (p.Glu748=)
c.2307G= (p.Glu769=)
c.*1G= (n.*1G=)
c.705G= (p.Glu235=)
2g.96809433G>TCA347709896CNNM4c.2244G>T (p.Glu748Asp)
c.2307G>T (p.Glu769Asp)
c.*1G>T (n.*1G>T)
c.705G>T (p.Glu235Asp)
2g.96809434C>ACA347709897CNNM4c.2245C>A (p.Leu749Met)
c.2308C>A (p.Leu770Met)
c.*2C>A (n.*2C>A)
c.706C>A (p.Leu236Met)
2g.96809434C=CA1272775212CNNM4c.2245C= (p.Leu749=)
c.2308C= (p.Leu770=)
c.*2C= (n.*2C=)
c.706C= (p.Leu236=)
2g.96809434C>GCA347709898CNNM4c.2245C>G (p.Leu749Val)
c.2308C>G (p.Leu770Val)
c.*2C>G (n.*2C>G)
c.706C>G (p.Leu236Val)
 dbSNP gnomAD v4
2g.96809434C>TCA427519479CNNM4c.2245C>T (p.Leu749=)
c.2308C>T (p.Leu770=)
c.*2C>T (n.*2C>T)
c.706C>T (p.Leu236=)
2g.96809435T>ACA347709899CNNM4c.2246T>A (p.Leu749Gln)
c.2309T>A (p.Leu770Gln)
c.*3T>A (n.*3T>A)
c.707T>A (p.Leu236Gln)
2g.96809435T>CCA347709900CNNM4c.2246T>C (p.Leu749Pro)
c.2309T>C (p.Leu770Pro)
c.*3T>C (n.*3T>C)
c.707T>C (p.Leu236Pro)
 dbSNP gnomAD v4
2g.96809435T>GCA347709901CNNM4c.2246T>G (p.Leu749Arg)
c.2309T>G (p.Leu770Arg)
c.*3T>G (n.*3T>G)
c.707T>G (p.Leu236Arg)
2g.96809435T=CA1272775213CNNM4c.2246T= (p.Leu749=)
c.2309T= (p.Leu770=)
c.*3T= (n.*3T=)
c.707T= (p.Leu236=)
2g.96809436G>ACA427519480CNNM4c.2247G>A (p.Leu749=)
c.2310G>A (p.Leu770=)
c.*4G>A (n.*4G>A)
c.708G>A (p.Leu236=)
2g.96809436G>CCA427519481CNNM4c.2247G>C (p.Leu749=)
c.2310G>C (p.Leu770=)
c.*4G>C (n.*4G>C)
c.708G>C (p.Leu236=)
2g.96809436G>TCA427519482CNNM4c.2247G>T (p.Leu749=)
c.2310G>T (p.Leu770=)
c.*4G>T (n.*4G>T)
c.708G>T (p.Leu236=)
 gnomAD v4
2g.96809437C>ACA347709902CNNM4c.2248C>A (p.Pro750Thr)
c.2311C>A (p.Pro771Thr)
c.*5C>A (n.*5C>A)
c.709C>A (p.Pro237Thr)
2g.96809437C=CA1272775214CNNM4c.2248C= (p.Pro750=)
c.2311C= (p.Pro771=)
c.*5C= (n.*5C=)
c.709C= (p.Pro237=)
2g.96809437C>GCA347709903CNNM4c.2248C>G (p.Pro750Ala)
c.2311C>G (p.Pro771Ala)
c.*5C>G (n.*5C>G)
c.709C>G (p.Pro237Ala)
2g.96809437C>TCA52461494CNNM4c.2248C>T (p.Pro750Ser)
c.2311C>T (p.Pro771Ser)
c.*5C>T (n.*5C>T)
c.709C>T (p.Pro237Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.96809438C>ACA347709904CNNM4c.2249C>A (p.Pro750His)
c.2312C>A (p.Pro771His)
c.*6C>A (n.*6C>A)
c.710C>A (p.Pro237His)
2g.96809438C>GCA347709906CNNM4c.2249C>G (p.Pro750Arg)
c.2312C>G (p.Pro771Arg)
c.*6C>G (n.*6C>G)
c.710C>G (p.Pro237Arg)
2g.96809438C>TCA347709905CNNM4c.2249C>T (p.Pro750Leu)
c.2312C>T (p.Pro771Leu)
c.*6C>T (n.*6C>T)
c.710C>T (p.Pro237Leu)
 gnomAD v4
2g.96809439T>ACA427519483CNNM4c.2250T>A (p.Pro750=)
c.2313T>A (p.Pro771=)
c.*7T>A (n.*7T>A)
c.711T>A (p.Pro237=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96809439T>CCA427519484CNNM4c.2250T>C (p.Pro750=)
c.2313T>C (p.Pro771=)
c.*7T>C (n.*7T>C)
c.711T>C (p.Pro237=)
 dbSNP
2g.96809439T>GCA427519485CNNM4c.2250T>G (p.Pro750=)
c.2313T>G (p.Pro771=)
c.*7T>G (n.*7T>G)
c.711T>G (p.Pro237=)
2g.96809439T=CA1272775215CNNM4c.2250T= (p.Pro750=)
c.2313T= (p.Pro771=)
c.*7T= (n.*7T=)
c.711T= (p.Pro237=)
2g.96809440G>ACA347709907CNNM4c.2251G>A (p.Val751Met)
c.2314G>A (p.Val772Met)
c.*8G>A (n.*8G>A)
c.712G>A (p.Val238Met)
 gnomAD v4
2g.96809440G>CCA1783623CNNM4c.2251G>C (p.Val751Leu)
c.2314G>C (p.Val772Leu)
c.*8G>C (n.*8G>C)
c.712G>C (p.Val238Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96809440G=CA1272775216CNNM4c.2251G= (p.Val751=)
c.2314G= (p.Val772=)
c.*8G= (n.*8G=)
c.712G= (p.Val238=)
2g.96809440G>TCA347709908CNNM4c.2251G>T (p.Val751Leu)
c.2314G>T (p.Val772Leu)
c.*8G>T (n.*8G>T)
c.712G>T (p.Val238Leu)
2g.96809441T>ACA347709909CNNM4c.2252T>A (p.Val751Glu)
c.2315T>A (p.Val772Glu)
c.*9T>A (n.*9T>A)
c.713T>A (p.Val238Glu)
2g.96809441T>CCA347709910CNNM4c.2252T>C (p.Val751Ala)
c.2315T>C (p.Val772Ala)
c.*9T>C (n.*9T>C)
c.713T>C (p.Val238Ala)
2g.96809441T>GCA347709911CNNM4c.2252T>G (p.Val751Gly)
c.2315T>G (p.Val772Gly)
c.*9T>G (n.*9T>G)
c.713T>G (p.Val238Gly)
 dbSNP
2g.96809441T=CA1272775217CNNM4c.2252T= (p.Val751=)
c.2315T= (p.Val772=)
c.*9T= (n.*9T=)
c.713T= (p.Val238=)
2g.96809442G>ACA427519488CNNM4c.2253G>A (p.Val751=)
c.2316G>A (p.Val772=)
c.*10G>A (n.*10G>A)
c.714G>A (p.Val238=)
2g.96809442G>CCA427519486CNNM4c.2253G>C (p.Val751=)
c.2316G>C (p.Val772=)
c.*10G>C (n.*10G>C)
c.714G>C (p.Val238=)
2g.96809442G>TCA427519487CNNM4c.2253G>T (p.Val751=)
c.2316G>T (p.Val772=)
c.*10G>T (n.*10G>T)
c.714G>T (p.Val238=)
2g.96809443G>ACA1783624CNNM4c.2254G>A (p.Val752Met)
c.2317G>A (p.Val773Met)
c.*11G>A (n.*11G>A)
c.715G>A (p.Val239Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96809443G>CCA347709913CNNM4c.2254G>C (p.Val752Leu)
c.2317G>C (p.Val773Leu)
c.*11G>C (n.*11G>C)
c.715G>C (p.Val239Leu)
2g.96809443G=CA1272775218CNNM4c.2254G= (p.Val752=)
c.2317G= (p.Val773=)
c.*11G= (n.*11G=)
c.715G= (p.Val239=)
2g.96809443G>TCA347709912CNNM4c.2254G>T (p.Val752Leu)
c.2317G>T (p.Val773Leu)
c.*11G>T (n.*11G>T)
c.715G>T (p.Val239Leu)
 dbSNP
2g.96809444T>ACA347709914CNNM4c.2255T>A (p.Val752Glu)
c.2318T>A (p.Val773Glu)
c.*12T>A (n.*12T>A)
c.716T>A (p.Val239Glu)
2g.96809444T>CCA347709915CNNM4c.2255T>C (p.Val752Ala)
c.2318T>C (p.Val773Ala)
c.*12T>C (n.*12T>C)
c.716T>C (p.Val239Ala)
2g.96809444T>GCA1783625CNNM4c.2255T>G (p.Val752Gly)
c.2318T>G (p.Val773Gly)
c.*12T>G (n.*12T>G)
c.716T>G (p.Val239Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96809444T=CA1272775219CNNM4c.2255T= (p.Val752=)
c.2318T= (p.Val773=)
c.*12T= (n.*12T=)
c.716T= (p.Val239=)

Number of alleles fetched