Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
2g.96809445G>ACA427519489CNNM4c.2256G>A (p.Val752=)
c.2319G>A (p.Val773=)
c.*13G>A (n.*13G>A)
c.717G>A (p.Val239=)
 gnomAD v4
2g.96809445G>CCA427519490CNNM4c.2256G>C (p.Val752=)
c.2319G>C (p.Val773=)
c.*13G>C (n.*13G>C)
c.717G>C (p.Val239=)
2g.96809445G>TCA427519491CNNM4c.2256G>T (p.Val752=)
c.2319G>T (p.Val773=)
c.*13G>T (n.*13G>T)
c.717G>T (p.Val239=)
2g.96809446G>ACA347709916CNNM4c.2257G>A (p.Asp753Asn)
c.2320G>A (p.Asp774Asn)
c.*14G>A (n.*14G>A)
c.718G>A (p.Asp240Asn)
2g.96809446G>CCA347709917CNNM4c.2257G>C (p.Asp753His)
c.2320G>C (p.Asp774His)
c.*14G>C (n.*14G>C)
c.718G>C (p.Asp240His)
2g.96809446G>TCA347709918CNNM4c.2257G>T (p.Asp753Tyr)
c.2320G>T (p.Asp774Tyr)
c.*14G>T (n.*14G>T)
c.718G>T (p.Asp240Tyr)
2g.96809447A>CCA347709919CNNM4c.2258A>C (p.Asp753Ala)
c.2321A>C (p.Asp774Ala)
c.*15A>C (n.*15A>C)
c.719A>C (p.Asp240Ala)
2g.96809447A>GCA347709921CNNM4c.2258A>G (p.Asp753Gly)
c.2321A>G (p.Asp774Gly)
c.*15A>G (n.*15A>G)
c.719A>G (p.Asp240Gly)
 gnomAD v4
2g.96809447A>TCA347709920CNNM4c.2258A>T (p.Asp753Val)
c.2321A>T (p.Asp774Val)
c.*15A>T (n.*15A>T)
c.719A>T (p.Asp240Val)
2g.96809448C>ACA347709922CNNM4c.2259C>A (p.Asp753Glu)
c.2322C>A (p.Asp774Glu)
c.*16C>A (n.*16C>A)
c.720C>A (p.Asp240Glu)
2g.96809448C=CA1272775220CNNM4c.2259C= (p.Asp753=)
c.2322C= (p.Asp774=)
c.*16C= (n.*16C=)
c.720C= (p.Asp240=)
2g.96809448C>GCA347709923CNNM4c.2259C>G (p.Asp753Glu)
c.2322C>G (p.Asp774Glu)
c.*16C>G (n.*16C>G)
c.720C>G (p.Asp240Glu)
2g.96809448C>TCA1783626CNNM4c.2259C>T (p.Asp753=)
c.2322C>T (p.Asp774=)
c.*16C>T (n.*16C>T)
c.720C>T (p.Asp240=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96809449G>ACA1783627CNNM4c.2260G>A (p.Glu754Lys)
c.2323G>A (p.Glu775Lys)
c.*17G>A (n.*17G>A)
c.721G>A (p.Glu241Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96809449G>CCA347709924CNNM4c.2260G>C (p.Glu754Gln)
c.2323G>C (p.Glu775Gln)
c.*17G>C (n.*17G>C)
c.721G>C (p.Glu241Gln)
2g.96809449G=CA1272775221CNNM4c.2260G= (p.Glu754=)
c.2323G= (p.Glu775=)
c.*17G= (n.*17G=)
c.721G= (p.Glu241=)
2g.96809449G>TCA347709925CNNM4c.2260G>T (p.Glu754Ter)
c.2323G>T (p.Glu775Ter)
c.*17G>T (n.*17G>T)
c.721G>T (p.Glu241Ter)
2g.96809450A>CCA347709926CNNM4c.2261A>C (p.Glu754Ala)
c.2324A>C (p.Glu775Ala)
c.*18A>C (n.*18A>C)
c.722A>C (p.Glu241Ala)
2g.96809450A>GCA347709927CNNM4c.2261A>G (p.Glu754Gly)
c.2324A>G (p.Glu775Gly)
c.*18A>G (n.*18A>G)
c.722A>G (p.Glu241Gly)
 gnomAD v4
2g.96809450A>TCA347709928CNNM4c.2261A>T (p.Glu754Val)
c.2324A>T (p.Glu775Val)
c.*18A>T (n.*18A>T)
c.722A>T (p.Glu241Val)
2g.96809451G>ACA427519492CNNM4c.2262G>A (p.Glu754=)
c.2325G>A (p.Glu775=)
c.*19G>A (n.*19G>A)
c.723G>A (p.Glu241=)
2g.96809451G>CCA347709929CNNM4c.2262G>C (p.Glu754Asp)
c.2325G>C (p.Glu775Asp)
c.*19G>C (n.*19G>C)
c.723G>C (p.Glu241Asp)
 gnomAD v4 COSMIC
2g.96809451G>TCA347709930CNNM4c.2262G>T (p.Glu754Asp)
c.2325G>T (p.Glu775Asp)
c.*19G>T (n.*19G>T)
c.723G>T (p.Glu241Asp)
2g.96809452A>CCA347709931CNNM4c.2263A>C (p.Thr755Pro)
c.2326A>C (p.Thr776Pro)
c.*20A>C (n.*20A>C)
c.724A>C (p.Thr242Pro)
2g.96809452A>GCA347709933CNNM4c.2263A>G (p.Thr755Ala)
c.2326A>G (p.Thr776Ala)
c.*20A>G (n.*20A>G)
c.724A>G (p.Thr242Ala)
2g.96809452A>TCA347709932CNNM4c.2263A>T (p.Thr755Ser)
c.2326A>T (p.Thr776Ser)
c.*20A>T (n.*20A>T)
c.724A>T (p.Thr242Ser)
2g.96809454_96809456delCA2577039016CNNM4c.2265_2267del (p.Thr756del)
c.2328_2330del (p.Thr777del)
c.*22_*24del (n.*22_*24del)
c.726_728del (p.Thr243del)
2g.96809453C>ACA347709934CNNM4c.2264C>A (p.Thr755Asn)
c.2327C>A (p.Thr776Asn)
c.*21C>A (n.*21C>A)
c.725C>A (p.Thr242Asn)
2g.96809453C=CA1272775222CNNM4c.2264C= (p.Thr755=)
c.2327C= (p.Thr776=)
c.*21C= (n.*21C=)
c.725C= (p.Thr242=)
2g.96809453C>GCA347709935CNNM4c.2264C>G (p.Thr755Ser)
c.2327C>G (p.Thr776Ser)
c.*21C>G (n.*21C>G)
c.725C>G (p.Thr242Ser)
2g.96809453C>TCA347709936CNNM4c.2264C>T (p.Thr755Ile)
c.2327C>T (p.Thr776Ile)
c.*21C>T (n.*21C>T)
c.725C>T (p.Thr242Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.96809454C>ACA427519493CNNM4c.2265C>A (p.Thr755=)
c.2328C>A (p.Thr776=)
c.*22C>A (n.*22C>A)
c.726C>A (p.Thr242=)
2g.96809454C>GCA427519494CNNM4c.2265C>G (p.Thr755=)
c.2328C>G (p.Thr776=)
c.*22C>G (n.*22C>G)
c.726C>G (p.Thr242=)
2g.96809454C>TCA427519495CNNM4c.2265C>T (p.Thr755=)
c.2328C>T (p.Thr776=)
c.*22C>T (n.*22C>T)
c.726C>T (p.Thr242=)
2g.96809455A=CA1272775223CNNM4c.2266A= (p.Thr756=)
c.2329A= (p.Thr777=)
c.*23A= (n.*23A=)
c.727A= (p.Thr243=)
2g.96809455A>CCA347709937CNNM4c.2266A>C (p.Thr756Pro)
c.2329A>C (p.Thr777Pro)
c.*23A>C (n.*23A>C)
c.727A>C (p.Thr243Pro)
2g.96809455A>GCA347709938CNNM4c.2266A>G (p.Thr756Ala)
c.2329A>G (p.Thr777Ala)
c.*23A>G (n.*23A>G)
c.727A>G (p.Thr243Ala)
 dbSNP
2g.96809455A>TCA347709939CNNM4c.2266A>T (p.Thr756Ser)
c.2329A>T (p.Thr777Ser)
c.*23A>T (n.*23A>T)
c.727A>T (p.Thr243Ser)
2g.96809456C>ACA347709940CNNM4c.2267C>A (p.Thr756Lys)
c.2330C>A (p.Thr777Lys)
c.*24C>A (n.*24C>A)
c.728C>A (p.Thr243Lys)
2g.96809456C=CA1272775224CNNM4c.2267C= (p.Thr756=)
c.2330C= (p.Thr777=)
c.*24C= (n.*24C=)
c.728C= (p.Thr243=)
2g.96809456C>GCA347709941CNNM4c.2267C>G (p.Thr756Arg)
c.2330C>G (p.Thr777Arg)
c.*24C>G (n.*24C>G)
c.728C>G (p.Thr243Arg)
2g.96809456C>TCA1783628CNNM4c.2267C>T (p.Thr756Ile)
c.2330C>T (p.Thr777Ile)
c.*24C>T (n.*24C>T)
c.728C>T (p.Thr243Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96809457A>CCA427519496CNNM4c.2268A>C (p.Thr756=)
c.2331A>C (p.Thr777=)
c.*25A>C (n.*25A>C)
c.729A>C (p.Thr243=)
2g.96809457A>GCA427519497CNNM4c.2268A>G (p.Thr756=)
c.2331A>G (p.Thr777=)
c.*25A>G (n.*25A>G)
c.729A>G (p.Thr243=)
2g.96809457A>TCA427519498CNNM4c.2268A>T (p.Thr756=)
c.2331A>T (p.Thr777=)
c.*25A>T (n.*25A>T)
c.729A>T (p.Thr243=)
2g.96809458A=CA1272775225CNNM4c.2269A= (p.Thr757=)
c.2332A= (p.Thr778=)
c.*26A= (n.*26A=)
c.730A= (p.Thr244=)
2g.96809458A>CCA347709942CNNM4c.2269A>C (p.Thr757Pro)
c.2332A>C (p.Thr778Pro)
c.*26A>C (n.*26A>C)
c.730A>C (p.Thr244Pro)
2g.96809458A>GCA1783629CNNM4c.2269A>G (p.Thr757Ala)
c.2332A>G (p.Thr778Ala)
c.*26A>G (n.*26A>G)
c.730A>G (p.Thr244Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96809458A>TCA347709943CNNM4c.2269A>T (p.Thr757Ser)
c.2332A>T (p.Thr778Ser)
c.*26A>T (n.*26A>T)
c.730A>T (p.Thr244Ser)
2g.96809459C>ACA347709946CNNM4c.2270C>A (p.Thr757Asn)
c.2333C>A (p.Thr778Asn)
c.*27C>A (n.*27C>A)
c.731C>A (p.Thr244Asn)
2g.96809459C>GCA347709944CNNM4c.2270C>G (p.Thr757Ser)
c.2333C>G (p.Thr778Ser)
c.*27C>G (n.*27C>G)
c.731C>G (p.Thr244Ser)
2g.96809459C>TCA347709945CNNM4c.2270C>T (p.Thr757Ile)
c.2333C>T (p.Thr778Ile)
c.*27C>T (n.*27C>T)
c.731C>T (p.Thr244Ile)
 gnomAD v4
2g.96809460delCA2660223277CNNM4c.2271del (p.Leu758PhefsTer?)
c.2334del (p.Leu779PhefsTer?)
c.*28del (n.*28del)
c.732del (p.Leu245PhefsTer?)
 gnomAD v4
2g.96809460T>ACA52461557CNNM4c.2271T>A (p.Thr757=)
c.2334T>A (p.Thr778=)
c.*28T>A (n.*28T>A)
c.732T>A (p.Thr244=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96809460T>CCA427519499CNNM4c.2271T>C (p.Thr757=)
c.2334T>C (p.Thr778=)
c.*28T>C (n.*28T>C)
c.732T>C (p.Thr244=)
2g.96809460T>GCA427519500CNNM4c.2271T>G (p.Thr757=)
c.2334T>G (p.Thr778=)
c.*28T>G (n.*28T>G)
c.732T>G (p.Thr244=)
2g.96809460T=CA1272775226CNNM4c.2271T= (p.Thr757=)
c.2334T= (p.Thr778=)
c.*28T= (n.*28T=)
c.732T= (p.Thr244=)
2g.96809461C>ACA347709947CNNM4c.2272C>A (p.Leu758Ile)
c.2335C>A (p.Leu779Ile)
c.*29C>A (n.*29C>A)
c.733C>A (p.Leu245Ile)
2g.96809461C>GCA347709948CNNM4c.2272C>G (p.Leu758Val)
c.2335C>G (p.Leu779Val)
c.*29C>G (n.*29C>G)
c.733C>G (p.Leu245Val)
2g.96809461C>TCA347709949CNNM4c.2272C>T (p.Leu758Phe)
c.2335C>T (p.Leu779Phe)
c.*29C>T (n.*29C>T)
c.733C>T (p.Leu245Phe)
2g.96809462T>ACA347709950CNNM4c.2273T>A (p.Leu758His)
c.2336T>A (p.Leu779His)
c.*30T>A (n.*30T>A)
c.734T>A (p.Leu245His)
2g.96809462T>CCA347709951CNNM4c.2273T>C (p.Leu758Pro)
c.2336T>C (p.Leu779Pro)
c.*30T>C (n.*30T>C)
c.734T>C (p.Leu245Pro)
2g.96809462T>GCA347709952CNNM4c.2273T>G (p.Leu758Arg)
c.2336T>G (p.Leu779Arg)
c.*30T>G (n.*30T>G)
c.734T>G (p.Leu245Arg)
2g.96809463T>ACA427519502CNNM4c.2274T>A (p.Leu758=)
c.2337T>A (p.Leu779=)
c.*31T>A (n.*31T>A)
c.735T>A (p.Leu245=)
2g.96809463T>CCA1783630CNNM4c.2274T>C (p.Leu758=)
c.2337T>C (p.Leu779=)
c.*31T>C (n.*31T>C)
c.735T>C (p.Leu245=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96809463T>GCA427519501CNNM4c.2274T>G (p.Leu758=)
c.2337T>G (p.Leu779=)
c.*31T>G (n.*31T>G)
c.735T>G (p.Leu245=)
2g.96809463T=CA1272775227CNNM4c.2274T= (p.Leu758=)
c.2337T= (p.Leu779=)
c.*31T= (n.*31T=)
c.735T= (p.Leu245=)
2g.96809464C>ACA347709953CNNM4c.2275C>A (p.Leu759Ile)
c.2338C>A (p.Leu780Ile)
c.*32C>A (n.*32C>A)
c.736C>A (p.Leu246Ile)
 dbSNP gnomAD v4
2g.96809464C=CA1272775228CNNM4c.2275C= (p.Leu759=)
c.2338C= (p.Leu780=)
c.*32C= (n.*32C=)
c.736C= (p.Leu246=)
2g.96809464C>GCA347709954CNNM4c.2275C>G (p.Leu759Val)
c.2338C>G (p.Leu780Val)
c.*32C>G (n.*32C>G)
c.736C>G (p.Leu246Val)
2g.96809464C>TCA347709955CNNM4c.2275C>T (p.Leu759Phe)
c.2338C>T (p.Leu780Phe)
c.*32C>T (n.*32C>T)
c.736C>T (p.Leu246Phe)
2g.96809465T>ACA347709957CNNM4c.2276T>A (p.Leu759His)
c.2339T>A (p.Leu780His)
c.*33T>A (n.*33T>A)
c.737T>A (p.Leu246His)
 gnomAD v4
2g.96809465T>CCA347709958CNNM4c.2276T>C (p.Leu759Pro)
c.2339T>C (p.Leu780Pro)
c.*33T>C (n.*33T>C)
c.737T>C (p.Leu246Pro)
2g.96809465T>GCA347709956CNNM4c.2276T>G (p.Leu759Arg)
c.2339T>G (p.Leu780Arg)
c.*33T>G (n.*33T>G)
c.737T>G (p.Leu246Arg)
 gnomAD v4
2g.96809466delCA2700052725CNNM4c.2277del (p.Asn760ThrfsTer?)
c.2340del (p.Asn781ThrfsTer?)
c.*34del (n.*34del)
c.738del (p.Asn247ThrfsTer?)
 dbSNP
2g.96809466C>ACA427519503CNNM4c.2277C>A (p.Leu759=)
c.2340C>A (p.Leu780=)
c.*34C>A (n.*34C>A)
c.738C>A (p.Leu246=)
2g.96809466C>GCA427519504CNNM4c.2277C>G (p.Leu759=)
c.2340C>G (p.Leu780=)
c.*34C>G (n.*34C>G)
c.738C>G (p.Leu246=)
2g.96809466C>TCA427519505CNNM4c.2277C>T (p.Leu759=)
c.2340C>T (p.Leu780=)
c.*34C>T (n.*34C>T)
c.738C>T (p.Leu246=)
2g.96809467A>CCA347709960CNNM4c.2278A>C (p.Asn760His)
c.2341A>C (p.Asn781His)
c.*35A>C (n.*35A>C)
c.739A>C (p.Asn247His)
 gnomAD v4
2g.96809467A>GCA347709959CNNM4c.2278A>G (p.Asn760Asp)
c.2341A>G (p.Asn781Asp)
c.*35A>G (n.*35A>G)
c.739A>G (p.Asn247Asp)
2g.96809467A>TCA347709961CNNM4c.2278A>T (p.Asn760Tyr)
c.2341A>T (p.Asn781Tyr)
c.*35A>T (n.*35A>T)
c.739A>T (p.Asn247Tyr)
2g.96809468A>CCA347709962CNNM4c.2279A>C (p.Asn760Thr)
c.2342A>C (p.Asn781Thr)
c.*36A>C (n.*36A>C)
c.740A>C (p.Asn247Thr)
2g.96809468A>GCA347709963CNNM4c.2279A>G (p.Asn760Ser)
c.2342A>G (p.Asn781Ser)
c.*36A>G (n.*36A>G)
c.740A>G (p.Asn247Ser)
2g.96809468A>TCA347709964CNNM4c.2279A>T (p.Asn760Ile)
c.2342A>T (p.Asn781Ile)
c.*36A>T (n.*36A>T)
c.740A>T (p.Asn247Ile)
2g.96809469C>ACA347709965CNNM4c.2280C>A (p.Asn760Lys)
c.2343C>A (p.Asn781Lys)
c.*37C>A (n.*37C>A)
c.741C>A (p.Asn247Lys)
2g.96809469C=CA1272775229CNNM4c.2280C= (p.Asn760=)
c.2343C= (p.Asn781=)
c.*37C= (n.*37C=)
c.741C= (p.Asn247=)
2g.96809469C>GCA347709966CNNM4c.2280C>G (p.Asn760Lys)
c.2343C>G (p.Asn781Lys)
c.*37C>G (n.*37C>G)
c.741C>G (p.Asn247Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96809469C>TCA1783631CNNM4c.2280C>T (p.Asn760=)
c.2343C>T (p.Asn781=)
c.*37C>T (n.*37C>T)
c.741C>T (p.Asn247=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96809470G>ACA1783633CNNM4c.2281G>A (p.Glu761Lys)
c.2344G>A (p.Glu782Lys)
c.*38G>A (n.*38G>A)
c.742G>A (p.Glu248Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96809470G>CCA1783632CNNM4c.2281G>C (p.Glu761Gln)
c.2344G>C (p.Glu782Gln)
c.*38G>C (n.*38G>C)
c.742G>C (p.Glu248Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96809470G=CA1272775230CNNM4c.2281G= (p.Glu761=)
c.2344G= (p.Glu782=)
c.*38G= (n.*38G=)
c.742G= (p.Glu248=)
2g.96809470G>TCA347709967CNNM4c.2281G>T (p.Glu761Ter)
c.2344G>T (p.Glu782Ter)
c.*38G>T (n.*38G>T)
c.742G>T (p.Glu248Ter)
2g.96809471A>CCA347709968CNNM4c.2282A>C (p.Glu761Ala)
c.2345A>C (p.Glu782Ala)
c.*39A>C (n.*39A>C)
c.743A>C (p.Glu248Ala)
2g.96809471A>GCA347709969CNNM4c.2282A>G (p.Glu761Gly)
c.2345A>G (p.Glu782Gly)
c.*39A>G (n.*39A>G)
c.743A>G (p.Glu248Gly)
2g.96809471A>TCA347709970CNNM4c.2282A>T (p.Glu761Val)
c.2345A>T (p.Glu782Val)
c.*39A>T (n.*39A>T)
c.743A>T (p.Glu248Val)
2g.96809472G>ACA427519507CNNM4c.2283G>A (p.Glu761=)
c.2346G>A (p.Glu782=)
c.*40G>A (n.*40G>A)
c.744G>A (p.Glu248=)
2g.96809472G>CCA347709972CNNM4c.2283G>C (p.Glu761Asp)
c.2346G>C (p.Glu782Asp)
c.*40G>C (n.*40G>C)
c.744G>C (p.Glu248Asp)
2g.96809472G>TCA347709971CNNM4c.2283G>T (p.Glu761Asp)
c.2346G>T (p.Glu782Asp)
c.*40G>T (n.*40G>T)
c.744G>T (p.Glu248Asp)
2g.96809473C>ACA347709973CNNM4c.2284C>A (p.Arg762Ser)
c.2347C>A (p.Arg783Ser)
c.*41C>A (n.*41C>A)
c.745C>A (p.Arg249Ser)
2g.96809473C=CA1272775231CNNM4c.2284C= (p.Arg762=)
c.2347C= (p.Arg783=)
c.*41C= (n.*41C=)
c.745C= (p.Arg249=)
2g.96809473C>GCA347709974CNNM4c.2284C>G (p.Arg762Gly)
c.2347C>G (p.Arg783Gly)
c.*41C>G (n.*41C>G)
c.745C>G (p.Arg249Gly)
2g.96809473C>TCA1783634CNNM4c.2284C>T (p.Arg762Cys)
c.2347C>T (p.Arg783Cys)
c.*41C>T (n.*41C>T)
c.745C>T (p.Arg249Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96809474delCA2660223278CNNM4c.2285del (p.Arg762LeufsTer?)
c.2348del (p.Arg783LeufsTer?)
c.*42del (n.*42del)
c.746del (p.Arg249LeufsTer?)
 gnomAD v4
2g.96809474G>ACA1783636CNNM4c.2285G>A (p.Arg762His)
c.2348G>A (p.Arg783His)
c.*42G>A (n.*42G>A)
c.746G>A (p.Arg249His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96809474G>CCA1783635CNNM4c.2285G>C (p.Arg762Pro)
c.2348G>C (p.Arg783Pro)
c.*42G>C (n.*42G>C)
c.746G>C (p.Arg249Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96809474G=CA1272775232CNNM4c.2285G= (p.Arg762=)
c.2348G= (p.Arg783=)
c.*42G= (n.*42G=)
c.746G= (p.Arg249=)
2g.96809474G>TCA347709975CNNM4c.2285G>T (p.Arg762Leu)
c.2348G>T (p.Arg783Leu)
c.*42G>T (n.*42G>T)
c.746G>T (p.Arg249Leu)
2g.96809475T>ACA427519508CNNM4c.2286T>A (p.Arg762=)
c.2349T>A (p.Arg783=)
c.*43T>A (n.*43T>A)
c.747T>A (p.Arg249=)
2g.96809475T>CCA427519509CNNM4c.2286T>C (p.Arg762=)
c.2349T>C (p.Arg783=)
c.*43T>C (n.*43T>C)
c.747T>C (p.Arg249=)
2g.96809475T>GCA427519511CNNM4c.2286T>G (p.Arg762=)
c.2349T>G (p.Arg783=)
c.*43T>G (n.*43T>G)
c.747T>G (p.Arg249=)
2g.96809475dupCA534636700CNNM4c.2286dup (p.Asn763Ter)
c.2349dup (p.Asn784Ter)
c.*43dup (n.*43dup)
c.747dup (p.Asn250Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96809476A>CCA347709976CNNM4c.2287A>C (p.Asn763His)
c.2350A>C (p.Asn784His)
c.*44A>C (n.*44A>C)
c.748A>C (p.Asn250His)
2g.96809476A>GCA347709977CNNM4c.2287A>G (p.Asn763Asp)
c.2350A>G (p.Asn784Asp)
c.*44A>G (n.*44A>G)
c.748A>G (p.Asn250Asp)
2g.96809476A>TCA347709978CNNM4c.2287A>T (p.Asn763Tyr)
c.2350A>T (p.Asn784Tyr)
c.*44A>T (n.*44A>T)
c.748A>T (p.Asn250Tyr)
2g.96809477A>CCA347709979CNNM4c.2288A>C (p.Asn763Thr)
c.2351A>C (p.Asn784Thr)
c.*45A>C (n.*45A>C)
c.749A>C (p.Asn250Thr)
2g.96809477A>GCA347709980CNNM4c.2288A>G (p.Asn763Ser)
c.2351A>G (p.Asn784Ser)
c.*45A>G (n.*45A>G)
c.749A>G (p.Asn250Ser)
2g.96809477A>TCA347709981CNNM4c.2288A>T (p.Asn763Ile)
c.2351A>T (p.Asn784Ile)
c.*45A>T (n.*45A>T)
c.749A>T (p.Asn250Ile)
2g.96809478C>ACA347709983CNNM4c.2289C>A (p.Asn763Lys)
c.2352C>A (p.Asn784Lys)
c.*46C>A (n.*46C>A)
c.750C>A (p.Asn250Lys)
2g.96809478C>GCA347709982CNNM4c.2289C>G (p.Asn763Lys)
c.2352C>G (p.Asn784Lys)
c.*46C>G (n.*46C>G)
c.750C>G (p.Asn250Lys)
2g.96809478C>TCA427519515CNNM4c.2289C>T (p.Asn763=)
c.2352C>T (p.Asn784=)
c.*46C>T (n.*46C>T)
c.750C>T (p.Asn250=)
2g.96809479T>ACA347709984CNNM4c.2290T>A (p.Ser764Thr)
c.2353T>A (p.Ser785Thr)
c.*47T>A (n.*47T>A)
c.751T>A (p.Ser251Thr)
2g.96809479T>CCA347709985CNNM4c.2290T>C (p.Ser764Pro)
c.2353T>C (p.Ser785Pro)
c.*47T>C (n.*47T>C)
c.751T>C (p.Ser251Pro)
2g.96809479T>GCA347709986CNNM4c.2290T>G (p.Ser764Ala)
c.2353T>G (p.Ser785Ala)
c.*47T>G (n.*47T>G)
c.751T>G (p.Ser251Ala)
2g.96809480C>ACA347709987CNNM4c.2291C>A (p.Ser764Tyr)
c.2354C>A (p.Ser785Tyr)
c.*48C>A (n.*48C>A)
c.752C>A (p.Ser251Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.96809480C=CA1272775233CNNM4c.2291C= (p.Ser764=)
c.2354C= (p.Ser785=)
c.*48C= (n.*48C=)
c.752C= (p.Ser251=)
2g.96809480C>GCA347709988CNNM4c.2291C>G (p.Ser764Cys)
c.2354C>G (p.Ser785Cys)
c.*48C>G (n.*48C>G)
c.752C>G (p.Ser251Cys)
2g.96809480C>TCA347709989CNNM4c.2291C>T (p.Ser764Phe)
c.2354C>T (p.Ser785Phe)
c.*48C>T (n.*48C>T)
c.752C>T (p.Ser251Phe)
 dbSNP gnomAD v4
2g.96809481C>ACA427519517CNNM4c.2292C>A (p.Ser764=)
c.2355C>A (p.Ser785=)
c.*49C>A (n.*49C>A)
c.753C>A (p.Ser251=)
2g.96809481C=CA1272775234CNNM4c.2292C= (p.Ser764=)
c.2355C= (p.Ser785=)
c.*49C= (n.*49C=)
c.753C= (p.Ser251=)
2g.96809481C>GCA427519519CNNM4c.2292C>G (p.Ser764=)
c.2355C>G (p.Ser785=)
c.*49C>G (n.*49C>G)
c.753C>G (p.Ser251=)
2g.96809481C>TCA427519520CNNM4c.2292C>T (p.Ser764=)
c.2355C>T (p.Ser785=)
c.*49C>T (n.*49C>T)
c.753C>T (p.Ser251=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96809482T>ACA347709990CNNM4c.2293T>A (p.Leu765Met)
c.2356T>A (p.Leu786Met)
c.*50T>A (n.*50T>A)
c.754T>A (p.Leu252Met)
2g.96809482T>CCA427519521CNNM4c.2293T>C (p.Leu765=)
c.2356T>C (p.Leu786=)
c.*50T>C (n.*50T>C)
c.754T>C (p.Leu252=)
 gnomAD v4
2g.96809482T>GCA52461573CNNM4c.2293T>G (p.Leu765Val)
c.2356T>G (p.Leu786Val)
c.*50T>G (n.*50T>G)
c.754T>G (p.Leu252Val)
 dbSNP gnomAD v3 gnomAD v4
2g.96809482T=CA1272775235CNNM4c.2293T= (p.Leu765=)
c.2356T= (p.Leu786=)
c.*50T= (n.*50T=)
c.754T= (p.Leu252=)
2g.96809483T>ACA347709991CNNM4c.2294T>A (p.Leu765Ter)
c.2357T>A (p.Leu786Ter)
c.*51T>A (n.*51T>A)
c.755T>A (p.Leu252Ter)
2g.96809483T>CCA347709992CNNM4c.2294T>C (p.Leu765Ser)
c.2357T>C (p.Leu786Ser)
c.*51T>C (n.*51T>C)
c.755T>C (p.Leu252Ser)
 gnomAD v4
2g.96809483T>GCA347709993CNNM4c.2294T>G (p.Leu765Trp)
c.2357T>G (p.Leu786Trp)
c.*51T>G (n.*51T>G)
c.755T>G (p.Leu252Trp)
2g.96809484G>ACA427519523CNNM4c.2295G>A (p.Leu765=)
c.2358G>A (p.Leu786=)
c.*52G>A (n.*52G>A)
c.756G>A (p.Leu252=)
2g.96809484G>CCA347709994CNNM4c.2295G>C (p.Leu765Phe)
c.2358G>C (p.Leu786Phe)
c.*52G>C (n.*52G>C)
c.756G>C (p.Leu252Phe)
2g.96809484G>TCA347709995CNNM4c.2295G>T (p.Leu765Phe)
c.2358G>T (p.Leu786Phe)
c.*52G>T (n.*52G>T)
c.756G>T (p.Leu252Phe)
2g.96809485C>ACA347709997CNNM4c.2296C>A (p.Leu766Met)
c.2359C>A (p.Leu787Met)
c.*53C>A (n.*53C>A)
c.757C>A (p.Leu253Met)
2g.96809485C=CA1272775236CNNM4c.2296C= (p.Leu766=)
c.2359C= (p.Leu787=)
c.*53C= (n.*53C=)
c.757C= (p.Leu253=)
2g.96809485C>GCA347709996CNNM4c.2296C>G (p.Leu766Val)
c.2359C>G (p.Leu787Val)
c.*53C>G (n.*53C>G)
c.757C>G (p.Leu253Val)
 ClinVar dbSNP gnomAD v4
2g.96809485C>TCA427519525CNNM4c.2296C>T (p.Leu766=)
c.2359C>T (p.Leu787=)
c.*53C>T (n.*53C>T)
c.757C>T (p.Leu253=)
2g.96809486T>ACA1783637CNNM4c.2297T>A (p.Leu766Gln)
c.2360T>A (p.Leu787Gln)
c.*54T>A (n.*54T>A)
c.758T>A (p.Leu253Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96809486T>CCA347709998CNNM4c.2297T>C (p.Leu766Pro)
c.2360T>C (p.Leu787Pro)
c.*54T>C (n.*54T>C)
c.758T>C (p.Leu253Pro)
2g.96809486T>GCA347709999CNNM4c.2297T>G (p.Leu766Arg)
c.2360T>G (p.Leu787Arg)
c.*54T>G (n.*54T>G)
c.758T>G (p.Leu253Arg)
2g.96809486T=CA1272775237CNNM4c.2297T= (p.Leu766=)
c.2360T= (p.Leu787=)
c.*54T= (n.*54T=)
c.758T= (p.Leu253=)
2g.96809487G>ACA427519527CNNM4c.2298G>A (p.Leu766=)
c.2361G>A (p.Leu787=)
c.*55G>A (n.*55G>A)
c.759G>A (p.Leu253=)
2g.96809487G>CCA427519528CNNM4c.2298G>C (p.Leu766=)
c.2361G>C (p.Leu787=)
c.*55G>C (n.*55G>C)
c.759G>C (p.Leu253=)
2g.96809487G>TCA427519529CNNM4c.2298G>T (p.Leu766=)
c.2361G>T (p.Leu787=)
c.*55G>T (n.*55G>T)
c.759G>T (p.Leu253=)
2g.96809488C>ACA347710000CNNM4c.2299C>A (p.His767Asn)
c.2362C>A (p.His788Asn)
c.*56C>A (n.*56C>A)
c.760C>A (p.His254Asn)
2g.96809488C>GCA347710001CNNM4c.2299C>G (p.His767Asp)
c.2362C>G (p.His788Asp)
c.*56C>G (n.*56C>G)
c.760C>G (p.His254Asp)
2g.96809488C>TCA347710002CNNM4c.2299C>T (p.His767Tyr)
c.2362C>T (p.His788Tyr)
c.*56C>T (n.*56C>T)
c.760C>T (p.His254Tyr)
2g.96809489A=CA1272775238CNNM4c.2300A= (p.His767=)
c.2363A= (p.His788=)
c.*57A= (n.*57A=)
c.761A= (p.His254=)
2g.96809489A>CCA347710003CNNM4c.2300A>C (p.His767Pro)
c.2363A>C (p.His788Pro)
c.*57A>C (n.*57A>C)
c.761A>C (p.His254Pro)
2g.96809489A>GCA347710004CNNM4c.2300A>G (p.His767Arg)
c.2363A>G (p.His788Arg)
c.*57A>G (n.*57A>G)
c.761A>G (p.His254Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96809489A>TCA347710005CNNM4c.2300A>T (p.His767Leu)
c.2363A>T (p.His788Leu)
c.*57A>T (n.*57A>T)
c.761A>T (p.His254Leu)
2g.96809490C>ACA347710006CNNM4c.2301C>A (p.His767Gln)
c.2364C>A (p.His788Gln)
c.*58C>A (n.*58C>A)
c.762C>A (p.His254Gln)
2g.96809490C=CA1272775239CNNM4c.2301C= (p.His767=)
c.2364C= (p.His788=)
c.*58C= (n.*58C=)
c.762C= (p.His254=)
2g.96809490C>GCA347710007CNNM4c.2301C>G (p.His767Gln)
c.2364C>G (p.His788Gln)
c.*58C>G (n.*58C>G)
c.762C>G (p.His254Gln)
2g.96809490C>TCA427519534CNNM4c.2301C>T (p.His767=)
c.2364C>T (p.His788=)
c.*58C>T (n.*58C>T)
c.762C>T (p.His254=)
 ClinVar dbSNP
2g.96809491A>CCA347710008CNNM4c.2302A>C (p.Lys768Gln)
c.2365A>C (p.Lys789Gln)
c.*59A>C (n.*59A>C)
c.763A>C (p.Lys255Gln)
2g.96809491A>GCA347710009CNNM4c.2302A>G (p.Lys768Glu)
c.2365A>G (p.Lys789Glu)
c.*59A>G (n.*59A>G)
c.763A>G (p.Lys255Glu)
2g.96809491A>TCA347710010CNNM4c.2302A>T (p.Lys768Ter)
c.2365A>T (p.Lys789Ter)
c.*59A>T (n.*59A>T)
c.763A>T (p.Lys255Ter)
2g.96809492A>CCA347710012CNNM4c.2303A>C (p.Lys768Thr)
c.2366A>C (p.Lys789Thr)
c.*60A>C (n.*60A>C)
c.764A>C (p.Lys255Thr)
2g.96809492A>GCA347710013CNNM4c.2303A>G (p.Lys768Arg)
c.2366A>G (p.Lys789Arg)
c.*60A>G (n.*60A>G)
c.764A>G (p.Lys255Arg)
2g.96809492A>TCA347710011CNNM4c.2303A>T (p.Lys768Ile)
c.2366A>T (p.Lys789Ile)
c.*60A>T (n.*60A>T)
c.764A>T (p.Lys255Ile)
2g.96809493A>CCA347710015CNNM4c.2304A>C (p.Lys768Asn)
c.2367A>C (p.Lys789Asn)
c.*61A>C (n.*61A>C)
c.765A>C (p.Lys255Asn)
2g.96809493A>GCA427519537CNNM4c.2304A>G (p.Lys768=)
c.2367A>G (p.Lys789=)
c.*61A>G (n.*61A>G)
c.765A>G (p.Lys255=)
2g.96809493A>TCA347710014CNNM4c.2304A>T (p.Lys768Asn)
c.2367A>T (p.Lys789Asn)
c.*61A>T (n.*61A>T)
c.765A>T (p.Lys255Asn)
2g.96809494G>ACA347710016CNNM4c.2305G>A (p.Ala769Thr)
c.2368G>A (p.Ala790Thr)
c.*62G>A (n.*62G>A)
c.766G>A (p.Ala256Thr)
 gnomAD v4
2g.96809494G>CCA347710017CNNM4c.2305G>C (p.Ala769Pro)
c.2368G>C (p.Ala790Pro)
c.*62G>C (n.*62G>C)
c.766G>C (p.Ala256Pro)
2g.96809494G>TCA347710018CNNM4c.2305G>T (p.Ala769Ser)
c.2368G>T (p.Ala790Ser)
c.*62G>T (n.*62G>T)
c.766G>T (p.Ala256Ser)
2g.96809495C>ACA347710019CNNM4c.2306C>A (p.Ala769Asp)
c.2369C>A (p.Ala790Asp)
c.*63C>A (n.*63C>A)
c.767C>A (p.Ala256Asp)
2g.96809495C=CA1272775240CNNM4c.2306C= (p.Ala769=)
c.2369C= (p.Ala790=)
c.*63C= (n.*63C=)
c.767C= (p.Ala256=)
2g.96809495C>GCA347710020CNNM4c.2306C>G (p.Ala769Gly)
c.2369C>G (p.Ala790Gly)
c.*63C>G (n.*63C>G)
c.767C>G (p.Ala256Gly)
2g.96809495C>TCA347710021CNNM4c.2306C>T (p.Ala769Val)
c.2369C>T (p.Ala790Val)
c.*63C>T (n.*63C>T)
c.767C>T (p.Ala256Val)
 dbSNP gnomAD v3 gnomAD v4
2g.96809496C>ACA52461580CNNM4c.2307C>A (p.Ala769=)
c.2370C>A (p.Ala790=)
c.*64C>A (n.*64C>A)
c.768C>A (p.Ala256=)
 dbSNP
2g.96809496C=CA1272775241CNNM4c.2307C= (p.Ala769=)
c.2370C= (p.Ala790=)
c.*64C= (n.*64C=)
c.768C= (p.Ala256=)
2g.96809496C>GCA427519546CNNM4c.2307C>G (p.Ala769=)
c.2370C>G (p.Ala790=)
c.*64C>G (n.*64C>G)
c.768C>G (p.Ala256=)
 gnomAD v4
2g.96809496C>TCA427519545CNNM4c.2307C>T (p.Ala769=)
c.2370C>T (p.Ala790=)
c.*64C>T (n.*64C>T)
c.768C>T (p.Ala256=)
2g.96809497T>ACA347710022CNNM4c.2308T>A (p.Ser770Thr)
c.2371T>A (p.Ser791Thr)
c.*65T>A (n.*65T>A)
c.769T>A (p.Ser257Thr)
2g.96809497T>CCA347710023CNNM4c.2308T>C (p.Ser770Pro)
c.2371T>C (p.Ser791Pro)
c.*65T>C (n.*65T>C)
c.769T>C (p.Ser257Pro)
2g.96809497T>GCA347710024CNNM4c.2308T>G (p.Ser770Ala)
c.2371T>G (p.Ser791Ala)
c.*65T>G (n.*65T>G)
c.769T>G (p.Ser257Ala)
2g.96809498C>ACA347710025CNNM4c.2309C>A (p.Ser770Tyr)
c.2372C>A (p.Ser791Tyr)
c.*66C>A (n.*66C>A)
c.770C>A (p.Ser257Tyr)
2g.96809498C=CA1272775242CNNM4c.2309C= (p.Ser770=)
c.2372C= (p.Ser791=)
c.*66C= (n.*66C=)
c.770C= (p.Ser257=)
2g.96809498C>GCA347710026CNNM4c.2309C>G (p.Ser770Cys)
c.2372C>G (p.Ser791Cys)
c.*66C>G (n.*66C>G)
c.770C>G (p.Ser257Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.96809498C>TCA347710027CNNM4c.2309C>T (p.Ser770Phe)
c.2372C>T (p.Ser791Phe)
c.*66C>T (n.*66C>T)
c.770C>T (p.Ser257Phe)
2g.96809499C>ACA427519547CNNM4c.2310C>A (p.Ser770=)
c.2373C>A (p.Ser791=)
c.*67C>A (n.*67C>A)
c.771C>A (p.Ser257=)
2g.96809499C=CA1272775243CNNM4c.2310C= (p.Ser770=)
c.2373C= (p.Ser791=)
c.*67C= (n.*67C=)
c.771C= (p.Ser257=)
2g.96809499C>GCA427519548CNNM4c.2310C>G (p.Ser770=)
c.2373C>G (p.Ser791=)
c.*67C>G (n.*67C>G)
c.771C>G (p.Ser257=)
2g.96809499C>TCA52461584CNNM4c.2310C>T (p.Ser770=)
c.2373C>T (p.Ser791=)
c.*67C>T (n.*67C>T)
c.771C>T (p.Ser257=)
 dbSNP gnomAD v3 gnomAD v4
2g.96809500C>ACA347710030CNNM4c.2311C>A (p.His771Asn)
c.2374C>A (p.His792Asn)
c.*68C>A (n.*68C>A)
c.772C>A (p.His258Asn)
2g.96809500C>GCA347710028CNNM4c.2311C>G (p.His771Asp)
c.2374C>G (p.His792Asp)
c.*68C>G (n.*68C>G)
c.772C>G (p.His258Asp)
2g.96809500C>TCA347710029CNNM4c.2311C>T (p.His771Tyr)
c.2374C>T (p.His792Tyr)
c.*68C>T (n.*68C>T)
c.772C>T (p.His258Tyr)
2g.96809501A=CA1272775244CNNM4c.2312A= (p.His771=)
c.2375A= (p.His792=)
c.*69A= (n.*69A=)
c.773A= (p.His258=)
2g.96809501A>CCA347710031CNNM4c.2312A>C (p.His771Pro)
c.2375A>C (p.His792Pro)
c.*69A>C (n.*69A>C)
c.773A>C (p.His258Pro)
2g.96809501A>GCA347710032CNNM4c.2312A>G (p.His771Arg)
c.2375A>G (p.His792Arg)
c.*69A>G (n.*69A>G)
c.773A>G (p.His258Arg)
 dbSNP gnomAD v4
2g.96809501A>TCA347710033CNNM4c.2312A>T (p.His771Leu)
c.2375A>T (p.His792Leu)
c.*69A>T (n.*69A>T)
c.773A>T (p.His258Leu)
2g.96809502C>ACA347710034CNNM4c.2313C>A (p.His771Gln)
c.2376C>A (p.His792Gln)
c.*70C>A (n.*70C>A)
c.774C>A (p.His258Gln)
 ClinVar dbSNP
2g.96809502C=CA1272775245CNNM4c.2313C= (p.His771=)
c.2376C= (p.His792=)
c.*70C= (n.*70C=)
c.774C= (p.His258=)
2g.96809502C>GCA347710035CNNM4c.2313C>G (p.His771Gln)
c.2376C>G (p.His792Gln)
c.*70C>G (n.*70C>G)
c.774C>G (p.His258Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.96809502C>TCA1783638CNNM4c.2313C>T (p.His771=)
c.2376C>T (p.His792=)
c.*70C>T (n.*70C>T)
c.774C>T (p.His258=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96809503G>ACA1783639CNNM4c.2314G>A (p.Glu772Lys)
c.2377G>A (p.Glu793Lys)
c.*71G>A (n.*71G>A)
c.775G>A (p.Glu259Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.96809503G>CCA347710040CNNM4c.2314G>C (p.Glu772Gln)
c.2377G>C (p.Glu793Gln)
c.*71G>C (n.*71G>C)
c.775G>C (p.Glu259Gln)
2g.96809503G=CA1272775246CNNM4c.2314G= (p.Glu772=)
c.2377G= (p.Glu793=)
c.*71G= (n.*71G=)
c.775G= (p.Glu259=)
2g.96809503G>TCA347710043CNNM4c.2314G>T (p.Glu772Ter)
c.2377G>T (p.Glu793Ter)
c.*71G>T (n.*71G>T)
c.775G>T (p.Glu259Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.96809504A=CA1272775247CNNM4c.2315A= (p.Glu772=)
c.2378A= (p.Glu793=)
c.*72A= (n.*72A=)
c.776A= (p.Glu259=)
2g.96809504A>CCA347710045CNNM4c.2315A>C (p.Glu772Ala)
c.2378A>C (p.Glu793Ala)
c.*72A>C (n.*72A>C)
c.776A>C (p.Glu259Ala)
2g.96809504A>GCA347710048CNNM4c.2315A>G (p.Glu772Gly)
c.2378A>G (p.Glu793Gly)
c.*72A>G (n.*72A>G)
c.776A>G (p.Glu259Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.96809504A>TCA347710051CNNM4c.2315A>T (p.Glu772Val)
c.2378A>T (p.Glu793Val)
c.*72A>T (n.*72A>T)
c.776A>T (p.Glu259Val)
2g.96809505G>ACA427519550CNNM4c.2316G>A (p.Glu772=)
c.2379G>A (p.Glu793=)
c.*73G>A (n.*73G>A)
c.777G>A (p.Glu259=)
 dbSNP gnomAD v2 gnomAD v4
2g.96809505G>CCA347710056CNNM4c.2316G>C (p.Glu772Asp)
c.2379G>C (p.Glu793Asp)
c.*73G>C (n.*73G>C)
c.777G>C (p.Glu259Asp)
2g.96809505G=CA1272775248CNNM4c.2316G= (p.Glu772=)
c.2379G= (p.Glu793=)
c.*73G= (n.*73G=)
c.777G= (p.Glu259=)
2g.96809505G>TCA347710054CNNM4c.2316G>T (p.Glu772Asp)
c.2379G>T (p.Glu793Asp)
c.*73G>T (n.*73G>T)
c.777G>T (p.Glu259Asp)
2g.96809506A>CCA347710060CNNM4c.2317A>C (p.Asn773His)
c.2380A>C (p.Asn794His)
c.*74A>C (n.*74A>C)
c.778A>C (p.Asn260His)
2g.96809506A>GCA347710065CNNM4c.2317A>G (p.Asn773Asp)
c.2380A>G (p.Asn794Asp)
c.*74A>G (n.*74A>G)
c.778A>G (p.Asn260Asp)
2g.96809506A>TCA347710063CNNM4c.2317A>T (p.Asn773Tyr)
c.2380A>T (p.Asn794Tyr)
c.*74A>T (n.*74A>T)
c.778A>T (p.Asn260Tyr)
2g.96809507A=CA1272775249CNNM4c.2318A= (p.Asn773=)
c.2381A= (p.Asn794=)
c.*75A= (n.*75A=)
c.779A= (p.Asn260=)
2g.96809507A>CCA347710068CNNM4c.2318A>C (p.Asn773Thr)
c.2381A>C (p.Asn794Thr)
c.*75A>C (n.*75A>C)
c.779A>C (p.Asn260Thr)
2g.96809507A>GCA347710071CNNM4c.2318A>G (p.Asn773Ser)
c.2381A>G (p.Asn794Ser)
c.*75A>G (n.*75A>G)
c.779A>G (p.Asn260Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96809507A>TCA347710072CNNM4c.2318A>T (p.Asn773Ile)
c.2381A>T (p.Asn794Ile)
c.*75A>T (n.*75A>T)
c.779A>T (p.Asn260Ile)
2g.96809508T>ACA347710073CNNM4c.2319T>A (p.Asn773Lys)
c.2382T>A (p.Asn794Lys)
c.*76T>A (n.*76T>A)
c.780T>A (p.Asn260Lys)
2g.96809508T>CCA427519552CNNM4c.2319T>C (p.Asn773=)
c.2382T>C (p.Asn794=)
c.*76T>C (n.*76T>C)
c.780T>C (p.Asn260=)
2g.96809508T>GCA347710074CNNM4c.2319T>G (p.Asn773Lys)
c.2382T>G (p.Asn794Lys)
c.*76T>G (n.*76T>G)
c.780T>G (p.Asn260Lys)
 dbSNP
2g.96809508T=CA1272775250CNNM4c.2319T= (p.Asn773=)
c.2382T= (p.Asn794=)
c.*76T= (n.*76T=)
c.780T= (p.Asn260=)
2g.96809509G>ACA347710075CNNM4c.2320G>A (p.Ala774Thr)
c.2383G>A (p.Ala795Thr)
c.*77G>A (n.*77G>A)
c.781G>A (p.Ala261Thr)
 gnomAD v4
2g.96809509G>CCA347710076CNNM4c.2320G>C (p.Ala774Pro)
c.2383G>C (p.Ala795Pro)
c.*77G>C (n.*77G>C)
c.781G>C (p.Ala261Pro)
2g.96809509G>TCA347710077CNNM4c.2320G>T (p.Ala774Ser)
c.2383G>T (p.Ala795Ser)
c.*77G>T (n.*77G>T)
c.781G>T (p.Ala261Ser)
2g.96809510C>ACA347710078CNNM4c.2321C>A (p.Ala774Asp)
c.2384C>A (p.Ala795Asp)
c.*78C>A (n.*78C>A)
c.782C>A (p.Ala261Asp)
2g.96809510C>GCA347710079CNNM4c.2321C>G (p.Ala774Gly)
c.2384C>G (p.Ala795Gly)
c.*78C>G (n.*78C>G)
c.782C>G (p.Ala261Gly)
2g.96809510C>TCA347710080CNNM4c.2321C>T (p.Ala774Val)
c.2384C>T (p.Ala795Val)
c.*78C>T (n.*78C>T)
c.782C>T (p.Ala261Val)
2g.96809511C>ACA427519558CNNM4c.2322C>A (p.Ala774=)
c.2385C>A (p.Ala795=)
c.*79C>A (n.*79C>A)
c.783C>A (p.Ala261=)
2g.96809511C>GCA427519559CNNM4c.2322C>G (p.Ala774=)
c.2385C>G (p.Ala795=)
c.*79C>G (n.*79C>G)
c.783C>G (p.Ala261=)
2g.96809511C>TCA427519557CNNM4c.2322C>T (p.Ala774=)
c.2385C>T (p.Ala795=)
c.*79C>T (n.*79C>T)
c.783C>T (p.Ala261=)
2g.96809512A>CCA347710083CNNM4c.2323A>C (p.Ile775Leu)
c.2386A>C (p.Ile796Leu)
c.*80A>C (n.*80A>C)
c.784A>C (p.Ile262Leu)
2g.96809512A>GCA347710082CNNM4c.2323A>G (p.Ile775Val)
c.2386A>G (p.Ile796Val)
c.*80A>G (n.*80A>G)
c.784A>G (p.Ile262Val)
 gnomAD v4
2g.96809512A>TCA347710081CNNM4c.2323A>T (p.Ile775Phe)
c.2386A>T (p.Ile796Phe)
c.*80A>T (n.*80A>T)
c.784A>T (p.Ile262Phe)
2g.96809512_96809513insGACA2660223279CNNM4c.2323_2324insGA (p.Ile775ArgfsTer?)
c.2386_2387insGA (p.Ile796ArgfsTer?)
c.*80_*81insGA (n.*80_*81insGA)
c.784_785insGA (p.Ile262ArgfsTer?)
 gnomAD v4
2g.96809513T>ACA347710084CNNM4c.2324T>A (p.Ile775Asn)
c.2387T>A (p.Ile796Asn)
c.*81T>A (n.*81T>A)
c.785T>A (p.Ile262Asn)
2g.96809513T>CCA347710085CNNM4c.2324T>C (p.Ile775Thr)
c.2387T>C (p.Ile796Thr)
c.*81T>C (n.*81T>C)
c.785T>C (p.Ile262Thr)
 dbSNP
2g.96809513T>GCA347710086CNNM4c.2324T>G (p.Ile775Ser)
c.2387T>G (p.Ile796Ser)
c.*81T>G (n.*81T>G)
c.785T>G (p.Ile262Ser)
2g.96809513T=CA1272775251CNNM4c.2324T= (p.Ile775=)
c.2387T= (p.Ile796=)
c.*81T= (n.*81T=)
c.785T= (p.Ile262=)
2g.96809513dupCA2577039017CNNM4c.2324dup (p.Ter776LeuextTer21)
c.2387dup (p.Ter797LeuextTer21)
c.*81dup (n.*81dup)
c.785dup (p.Ter263LeuextTer21)
 gnomAD v4
2g.96809514delCA2660223280CNNM4c.2325del (p.Ter776AspextTer?)
c.2388del (p.Ter797AspextTer?)
c.*82del (n.*82del)
c.786del (p.Ter263AspextTer?)
 gnomAD v4
2g.96809514C>ACA427519563CNNM4c.2325C>A (p.Ile775=)
c.2388C>A (p.Ile796=)
c.*82C>A (n.*82C>A)
c.786C>A (p.Ile262=)
2g.96809514C>GCA347710087CNNM4c.2325C>G (p.Ile775Met)
c.2388C>G (p.Ile796Met)
c.*82C>G (n.*82C>G)
c.786C>G (p.Ile262Met)
2g.96809514C>TCA427519564CNNM4c.2325C>T (p.Ile775=)
c.2388C>T (p.Ile796=)
c.*82C>T (n.*82C>T)
c.786C>T (p.Ile262=)
2g.96809515T>ACA347710088CNNM4c.2326T>A (p.Ter776Arg)
c.2389T>A (p.Ter797Arg)
c.*83T>A (n.*83T>A)
c.787T>A (p.Ter263Arg)
2g.96809515T>CCA347710089CNNM4c.2326T>C (p.Ter776Arg)
c.2389T>C (p.Ter797Arg)
c.*83T>C (n.*83T>C)
c.787T>C (p.Ter263Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.96809515T>GCA347710090CNNM4c.2326T>G (p.Ter776Gly)
c.2389T>G (p.Ter797Gly)
c.*83T>G (n.*83T>G)
c.787T>G (p.Ter263Gly)
2g.96809515T=CA1272775252CNNM4c.2326T= (p.Ter776=)
c.2389T= (p.Ter797=)
c.*83T= (n.*83T=)
c.787T= (p.Ter263=)
2g.96809516G>ACA427519566CNNM4c.2327G>A (p.Ter776=)
c.2390G>A (p.Ter797=)
c.*84G>A (n.*84G>A)
c.788G>A (p.Ter263=)
 gnomAD v4 COSMIC
2g.96809516G>CCA347710091CNNM4c.2327G>C (p.Ter776Ser)
c.2390G>C (p.Ter797Ser)
c.*84G>C (n.*84G>C)
c.788G>C (p.Ter263Ser)
2g.96809516G>TCA347710092CNNM4c.2327G>T (p.Ter776Leu)
c.2390G>T (p.Ter797Leu)
c.*84G>T (n.*84G>T)
c.788G>T (p.Ter263Leu)
2g.96809517A>CCA347710093CNNM4c.2328A>C (p.Ter776Cys)
c.2391A>C (p.Ter797Cys)
c.*85A>C (n.*85A>C)
c.789A>C (p.Ter263Cys)
2g.96809517A>GCA347710094CNNM4c.2328A>G (p.Ter776Trp)
c.2391A>G (p.Ter797Trp)
c.*85A>G (n.*85A>G)
c.789A>G (p.Ter263Trp)
2g.96809517A>TCA347710095CNNM4c.2328A>T (p.Ter776Cys)
c.2391A>T (p.Ter797Cys)
c.*85A>T (n.*85A>T)
c.789A>T (p.Ter263Cys)
2g.96809518C=CA1272775253CNNM4c.*1C= (n.*1C=)
c.*86C= (n.*86C=)
2g.96809518C>TCA1783640CNNM4c.*1C>T (n.*1C>T)
c.*86C>T (n.*86C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96809519dupCA2751332836CNNM4c.*2dup (n.*2dup)
c.*87dup (n.*87dup)
2g.96809520G>CCA534636704CNNM4c.*3G>C (n.*3G>C)
c.*88G>C (n.*88G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96809520G=CA1272775254CNNM4c.*3G= (n.*3G=)
c.*88G= (n.*88G=)
2g.96809522A>GCA2577039018CNNM4c.*5A>G (n.*5A>G)
c.*90A>G (n.*90A>G)
2g.96809523G>ACA1783641CNNM4c.*6G>A (n.*6G>A)
c.*91G>A (n.*91G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96809523G=CA1272775255CNNM4c.*6G= (n.*6G=)
c.*91G= (n.*91G=)
2g.96809523G>TCA534636705CNNM4c.*6G>T (n.*6G>T)
c.*91G>T (n.*91G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.96809524G>ACA534636706CNNM4c.*7G>A (n.*7G>A)
c.*92G>A (n.*92G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96809524G=CA1272775256CNNM4c.*7G= (n.*7G=)
c.*92G= (n.*92G=)
2g.96809525G>ACA1783642CNNM4c.*8G>A (n.*8G>A)
c.*93G>A (n.*93G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96809525G>CCA2577039019CNNM4c.*8G>C (n.*8G>C)
c.*93G>C (n.*93G>C)
2g.96809525G=CA1272775257CNNM4c.*8G= (n.*8G=)
c.*93G= (n.*93G=)
2g.96809526C>TCA2660223281CNNM4c.*9C>T (n.*9C>T)
c.*94C>T (n.*94C>T)
 gnomAD v4
2g.96809527C>GCA2660223282CNNM4c.*10C>G (n.*10C>G)
c.*95C>G (n.*95C>G)
 gnomAD v4
2g.96809528C=CA1272775258CNNM4c.*11C= (n.*11C=)
c.*96C= (n.*96C=)
2g.96809528C>GCA2577039020CNNM4c.*11C>G (n.*11C>G)
c.*96C>G (n.*96C>G)
2g.96809528C>TCA1783643CNNM4c.*11C>T (n.*11C>T)
c.*96C>T (n.*96C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96809529G>ACA1783644CNNM4c.*12G>A (n.*12G>A)
c.*97G>A (n.*97G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96809529G>CCA2577039021CNNM4c.*12G>C (n.*12G>C)
c.*97G>C (n.*97G>C)
 gnomAD v4
2g.96809529G=CA1272775259CNNM4c.*12G= (n.*12G=)
c.*97G= (n.*97G=)
2g.96809530G>CCA2700052737CNNM4c.*13G>C (n.*13G>C)
c.*98G>C (n.*98G>C)
 dbSNP
2g.96809532G>CCA2577039022CNNM4c.*15G>C (n.*15G>C)
c.*100G>C (n.*100G>C)
2g.96809533C>ACA2577039023CNNM4c.*16C>A (n.*16C>A)
c.*101C>A (n.*101C>A)
2g.96809533C=CA1272775260CNNM4c.*16C= (n.*16C=)
c.*101C= (n.*101C=)
2g.96809533C>TCA534636707CNNM4c.*16C>T (n.*16C>T)
c.*101C>T (n.*101C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96809537delCA2660223283CNNM4c.*20del (n.*20del)
c.*105del (n.*105del)
 gnomAD v4
2g.96809535C>ACA2660223284CNNM4c.*18C>A (n.*18C>A)
c.*103C>A (n.*103C>A)
 gnomAD v4
2g.96809535C>TCA2577039024CNNM4c.*18C>T (n.*18C>T)
c.*103C>T (n.*103C>T)
 gnomAD v4
2g.96809535_96809536insTCA2577039025CNNM4c.*18_*19insT (n.*18_*19insT)
c.*103_*104insT (n.*103_*104insT)
2g.96809536C>ACA2660223285CNNM4c.*19C>A (n.*19C>A)
c.*104C>A (n.*104C>A)
 gnomAD v4
2g.96809537C>TCA2577039026CNNM4c.*20C>T (n.*20C>T)
c.*105C>T (n.*105C>T)
 gnomAD v4
2g.96809539G>TCA2660223286CNNM4c.*22G>T (n.*22G>T)
c.*107G>T (n.*107G>T)
 gnomAD v4
2g.96809540C=CA1272775261CNNM4c.*23C= (n.*23C=)
c.*108C= (n.*108C=)
2g.96809540C>TCA1783645CNNM4c.*23C>T (n.*23C>T)
c.*108C>T (n.*108C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96809542C>ACA2660223287CNNM4c.*25C>A (n.*25C>A)
c.*110C>A (n.*110C>A)
 gnomAD v4
2g.96809542C=CA1272775262CNNM4c.*25C= (n.*25C=)
c.*110C= (n.*110C=)
2g.96809542C>TCA534636708CNNM4c.*25C>T (n.*25C>T)
c.*110C>T (n.*110C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.96809543A>GCA2751332837CNNM4c.*26A>G (n.*26A>G)
c.*111A>G (n.*111A>G)
2g.96809544C>ACA895809081CNNM4c.*27C>A (n.*27C>A)
c.*112C>A (n.*112C>A)
 dbSNP gnomAD v3 gnomAD v4
2g.96809544C=CA1272775263CNNM4c.*27C= (n.*27C=)
c.*112C= (n.*112C=)
2g.96809544C>GCA2751332838CNNM4c.*27C>G (n.*27C>G)
c.*112C>G (n.*112C>G)

Number of alleles fetched