Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.127442973G>ACA2675090215MEGF10c.2363-25G>A (n.2363-25G>A)
c.2528-25G>A (n.2528-25G>A)
c.1223-25G>A (n.1223-25G>A)
 gnomAD v4
5g.127442974C>ACA2675090217MEGF10c.2363-24C>A (n.2363-24C>A)
c.2528-24C>A (n.2528-24C>A)
c.1223-24C>A (n.1223-24C>A)
 gnomAD v4
5g.127442975T>CCA126965144MEGF10c.2363-23T>C (n.2363-23T>C)
c.2528-23T>C (n.2528-23T>C)
c.1223-23T>C (n.1223-23T>C)
 dbSNP gnomAD v4
5g.127442975T=CA1580859398MEGF10c.2363-23T= (n.2363-23T=)
c.2528-23T= (n.2528-23T=)
c.1223-23T= (n.1223-23T=)
5g.127442976A=CA1580859399MEGF10c.2363-22A= (n.2363-22A=)
c.2528-22A= (n.2528-22A=)
c.1223-22A= (n.1223-22A=)
5g.127442976A>GCA3391917MEGF10c.2363-22A>G (n.2363-22A>G)
c.2528-22A>G (n.2528-22A>G)
c.1223-22A>G (n.1223-22A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.127442977C=CA1580859400MEGF10c.2363-21C= (n.2363-21C=)
c.2528-21C= (n.2528-21C=)
c.1223-21C= (n.1223-21C=)
5g.127442977C>TCA1081321067MEGF10c.2363-21C>T (n.2363-21C>T)
c.2528-21C>T (n.2528-21C>T)
c.1223-21C>T (n.1223-21C>T)
 dbSNP gnomAD v3 gnomAD v4
5g.127442978A=CA1580859401MEGF10c.2363-20A= (n.2363-20A=)
c.2528-20A= (n.2528-20A=)
c.1223-20A= (n.1223-20A=)
5g.127442978A>CCA1580859402MEGF10c.2363-20A>C (n.2363-20A>C)
c.2528-20A>C (n.2528-20A>C)
c.1223-20A>C (n.1223-20A>C)
 dbSNP gnomAD v4
5g.127442978A>GCA562701221MEGF10c.2363-20A>G (n.2363-20A>G)
c.2528-20A>G (n.2528-20A>G)
c.1223-20A>G (n.1223-20A>G)
 dbSNP gnomAD v2 gnomAD v4
5g.127442982G>CCA1580859404MEGF10c.2363-16G>C (n.2363-16G>C)
c.2528-16G>C (n.2528-16G>C)
c.1223-16G>C (n.1223-16G>C)
 dbSNP
5g.127442982G=CA1580859403MEGF10c.2363-16G= (n.2363-16G=)
c.2528-16G= (n.2528-16G=)
c.1223-16G= (n.1223-16G=)
5g.127442982G>TCA2675090222MEGF10c.2363-16G>T (n.2363-16G>T)
c.2528-16G>T (n.2528-16G>T)
c.1223-16G>T (n.1223-16G>T)
 gnomAD v4
5g.127442983A=CA1580859405MEGF10c.2363-15A= (n.2363-15A=)
c.2528-15A= (n.2528-15A=)
c.1223-15A= (n.1223-15A=)
5g.127442983A>GCA3391918MEGF10c.2363-15A>G (n.2363-15A>G)
c.2528-15A>G (n.2528-15A>G)
c.1223-15A>G (n.1223-15A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.127442983A>TCA2675090226MEGF10c.2363-15A>T (n.2363-15A>T)
c.2528-15A>T (n.2528-15A>T)
c.1223-15A>T (n.1223-15A>T)
 gnomAD v4
5g.127442987dupCA2675090227MEGF10c.2363-11dup (n.2363-11dup)
c.2528-11dup (n.2528-11dup)
c.1223-11dup (n.1223-11dup)
 gnomAD v4
5g.127442987T>ACA3391919MEGF10c.2363-11T>A (n.2363-11T>A)
c.2528-11T>A (n.2528-11T>A)
c.1223-11T>A (n.1223-11T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.127442987T=CA1580859406MEGF10c.2363-11T= (n.2363-11T=)
c.2528-11T= (n.2528-11T=)
c.1223-11T= (n.1223-11T=)
5g.127442988C=CA1580859408MEGF10c.2363-10C= (n.2363-10C=)
c.2528-10C= (n.2528-10C=)
c.1223-10C= (n.1223-10C=)
5g.127442988C>GCA1580859407MEGF10c.2363-10C>G (n.2363-10C>G)
c.2528-10C>G (n.2528-10C>G)
c.1223-10C>G (n.1223-10C>G)
 ClinVar dbSNP gnomAD v4
5g.127442988C>TCA645565106MEGF10c.2363-10C>T (n.2363-10C>T)
c.2528-10C>T (n.2528-10C>T)
c.1223-10C>T (n.1223-10C>T)
 COSMIC
5g.127442991T>CCA2578394193MEGF10c.2363-7T>C (n.2363-7T>C)
c.2528-7T>C (n.2528-7T>C)
c.1223-7T>C (n.1223-7T>C)
5g.127442992C>ACA1580859410MEGF10c.2363-6C>A (n.2363-6C>A)
c.2528-6C>A (n.2528-6C>A)
c.1223-6C>A (n.1223-6C>A)
 dbSNP
5g.127442992C=CA1580859409MEGF10c.2363-6C= (n.2363-6C=)
c.2528-6C= (n.2528-6C=)
c.1223-6C= (n.1223-6C=)
5g.127442992C>GCA562701222MEGF10c.2363-6C>G (n.2363-6C>G)
c.2528-6C>G (n.2528-6C>G)
c.1223-6C>G (n.1223-6C>G)
 dbSNP gnomAD v2 gnomAD v4
5g.127442992C>TCA2580072533MEGF10c.2363-6C>T (n.2363-6C>T)
c.2528-6C>T (n.2528-6C>T)
c.1223-6C>T (n.1223-6C>T)
 ClinVar gnomAD v4
5g.127442993T>CCA1580859412MEGF10c.2363-5T>C (n.2363-5T>C)
c.2528-5T>C (n.2528-5T>C)
c.1223-5T>C (n.1223-5T>C)
 dbSNP
5g.127442993T=CA1580859411MEGF10c.2363-5T= (n.2363-5T=)
c.2528-5T= (n.2528-5T=)
c.1223-5T= (n.1223-5T=)
5g.127442994C>ACA2578394194MEGF10c.2363-4C>A (n.2363-4C>A)
c.2528-4C>A (n.2528-4C>A)
c.1223-4C>A (n.1223-4C>A)
5g.127442996A>CCA360734209MEGF10c.2363-2A>C (n.2363-2A>C)
c.2528-2A>C (n.2528-2A>C)
c.1223-2A>C (n.1223-2A>C)
5g.127442996A>GCA360734210MEGF10c.2363-2A>G (n.2363-2A>G)
c.2528-2A>G (n.2528-2A>G)
c.1223-2A>G (n.1223-2A>G)
5g.127442996A>TCA360734211MEGF10c.2363-2A>T (n.2363-2A>T)
c.2528-2A>T (n.2528-2A>T)
c.1223-2A>T (n.1223-2A>T)
5g.127442997G>ACA360734212MEGF10c.2363-1G>A (n.2363-1G>A)
c.2528-1G>A (n.2528-1G>A)
c.1223-1G>A (n.1223-1G>A)
5g.127442997G>CCA360734213MEGF10c.2363-1G>C (n.2363-1G>C)
c.2528-1G>C (n.2528-1G>C)
c.1223-1G>C (n.1223-1G>C)
 gnomAD v4
5g.127442997G>TCA360734214MEGF10c.2363-1G>T (n.2363-1G>T)
c.2528-1G>T (n.2528-1G>T)
c.1223-1G>T (n.1223-1G>T)
5g.127442998A=CA1580859413MEGF10c.2363A= (p.Lys788=)
c.2528A= (p.Lys843=)
c.1223A= (p.Lys408=)
5g.127442998A>CCA360734215MEGF10c.2363A>C (p.Lys788Thr)
c.2528A>C (p.Lys843Thr)
c.1223A>C (p.Lys408Thr)
5g.127442998A>GCA360734216MEGF10c.2363A>G (p.Lys788Arg)
c.2528A>G (p.Lys843Arg)
c.1223A>G (p.Lys408Arg)
 ClinVar dbSNP
5g.127442998A>TCA360734217MEGF10c.2363A>T (p.Lys788Met)
c.2528A>T (p.Lys843Met)
c.1223A>T (p.Lys408Met)
 dbSNP gnomAD v2 gnomAD v4
5g.127442999G>ACA446289450MEGF10c.2364G>A (p.Lys788=)
c.2529G>A (p.Lys843=)
c.1224G>A (p.Lys408=)
5g.127442999G>CCA3391920MEGF10c.2364G>C (p.Lys788Asn)
c.2529G>C (p.Lys843Asn)
c.1224G>C (p.Lys408Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.127442999G=CA1580859414MEGF10c.2364G= (p.Lys788=)
c.2529G= (p.Lys843=)
c.1224G= (p.Lys408=)
5g.127442999G>TCA360734218MEGF10c.2364G>T (p.Lys788Asn)
c.2529G>T (p.Lys843Asn)
c.1224G>T (p.Lys408Asn)
5g.127443000T>ACA360734219MEGF10c.2365T>A (p.Cys789Ser)
c.2530T>A (p.Cys844Ser)
c.1225T>A (p.Cys409Ser)
5g.127443000T>CCA360734221MEGF10c.2365T>C (p.Cys789Arg)
c.2530T>C (p.Cys844Arg)
c.1225T>C (p.Cys409Arg)
 gnomAD v4
5g.127443000T>GCA360734220MEGF10c.2365T>G (p.Cys789Gly)
c.2530T>G (p.Cys844Gly)
c.1225T>G (p.Cys409Gly)
 dbSNP
5g.127443000T=CA1580859415MEGF10c.2365T= (p.Cys789=)
c.2530T= (p.Cys844=)
c.1225T= (p.Cys409=)
5g.127443001G>ACA360734222MEGF10c.2366G>A (p.Cys789Tyr)
c.2531G>A (p.Cys844Tyr)
c.1226G>A (p.Cys409Tyr)
5g.127443001G>CCA360734223MEGF10c.2366G>C (p.Cys789Ser)
c.2531G>C (p.Cys844Ser)
c.1226G>C (p.Cys409Ser)
5g.127443001G>TCA360734224MEGF10c.2366G>T (p.Cys789Phe)
c.2531G>T (p.Cys844Phe)
c.1226G>T (p.Cys409Phe)
5g.127443002C>ACA360734225MEGF10c.2367C>A (p.Cys789Ter)
c.2532C>A (p.Cys844Ter)
c.1227C>A (p.Cys409Ter)
5g.127443002C>GCA360734226MEGF10c.2367C>G (p.Cys789Trp)
c.2532C>G (p.Cys844Trp)
c.1227C>G (p.Cys409Trp)
 gnomAD v4
5g.127443002C>TCA446289453MEGF10c.2367C>T (p.Cys789=)
c.2532C>T (p.Cys844=)
c.1227C>T (p.Cys409=)
5g.127443003_127443004delCA2675090258MEGF10c.2368_2369del (p.Pro790PhefsTer13)
c.2533_2534del (p.Pro845PhefsTer13)
c.1228_1229del (p.Pro410PhefsTer13)
 gnomAD v4
5g.127443003C>ACA360734227MEGF10c.2368C>A (p.Pro790Thr)
c.2533C>A (p.Pro845Thr)
c.1228C>A (p.Pro410Thr)
 gnomAD v4
5g.127443003C=CA1580859416MEGF10c.2368C= (p.Pro790=)
c.2533C= (p.Pro845=)
c.1228C= (p.Pro410=)
5g.127443003C>GCA360734228MEGF10c.2368C>G (p.Pro790Ala)
c.2533C>G (p.Pro845Ala)
c.1228C>G (p.Pro410Ala)
 dbSNP gnomAD v2 gnomAD v4
5g.127443003C>TCA3391921MEGF10c.2368C>T (p.Pro790Ser)
c.2533C>T (p.Pro845Ser)
c.1228C>T (p.Pro410Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.127443004C>ACA360734229MEGF10c.2369C>A (p.Pro790His)
c.2534C>A (p.Pro845His)
c.1229C>A (p.Pro410His)
5g.127443004C>GCA360734230MEGF10c.2369C>G (p.Pro790Arg)
c.2534C>G (p.Pro845Arg)
c.1229C>G (p.Pro410Arg)
5g.127443004C>TCA360734231MEGF10c.2369C>T (p.Pro790Leu)
c.2534C>T (p.Pro845Leu)
c.1229C>T (p.Pro410Leu)
5g.127443005T>ACA446289456MEGF10c.2370T>A (p.Pro790=)
c.2535T>A (p.Pro845=)
c.1230T>A (p.Pro410=)
5g.127443005T>CCA3391922MEGF10c.2370T>C (p.Pro790=)
c.2535T>C (p.Pro845=)
c.1230T>C (p.Pro410=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.127443005T>GCA446289457MEGF10c.2370T>G (p.Pro790=)
c.2535T>G (p.Pro845=)
c.1230T>G (p.Pro410=)
5g.127443005T=CA1580859417MEGF10c.2370T= (p.Pro790=)
c.2535T= (p.Pro845=)
c.1230T= (p.Pro410=)
5g.127443006T>ACA360734233MEGF10c.2371T>A (p.Ser791Thr)
c.2536T>A (p.Ser846Thr)
c.1231T>A (p.Ser411Thr)
5g.127443006T>CCA360734234MEGF10c.2371T>C (p.Ser791Pro)
c.2536T>C (p.Ser846Pro)
c.1231T>C (p.Ser411Pro)
5g.127443006T>GCA360734232MEGF10c.2371T>G (p.Ser791Ala)
c.2536T>G (p.Ser846Ala)
c.1231T>G (p.Ser411Ala)
 dbSNP
5g.127443007C>ACA360734235MEGF10c.2372C>A (p.Ser791Ter)
c.2537C>A (p.Ser846Ter)
c.1232C>A (p.Ser411Ter)
5g.127443007C>GCA360734236MEGF10c.2372C>G (p.Ser791Ter)
c.2537C>G (p.Ser846Ter)
c.1232C>G (p.Ser411Ter)
5g.127443007C>TCA360734237MEGF10c.2372C>T (p.Ser791Leu)
c.2537C>T (p.Ser846Leu)
c.1232C>T (p.Ser411Leu)
 gnomAD v4
5g.127443008A=CA1580859418MEGF10c.2373A= (p.Ser791=)
c.2538A= (p.Ser846=)
c.1233A= (p.Ser411=)
5g.127443008A>CCA126965158MEGF10c.2373A>C (p.Ser791=)
c.2538A>C (p.Ser846=)
c.1233A>C (p.Ser411=)
 dbSNP gnomAD v4
5g.127443008A>GCA446289459MEGF10c.2373A>G (p.Ser791=)
c.2538A>G (p.Ser846=)
c.1233A>G (p.Ser411=)
5g.127443008A>TCA446289460MEGF10c.2373A>T (p.Ser791=)
c.2538A>T (p.Ser846=)
c.1233A>T (p.Ser411=)
5g.127443009G>ACA360734240MEGF10c.2374G>A (p.Gly792Arg)
c.2539G>A (p.Gly847Arg)
c.1234G>A (p.Gly412Arg)
 dbSNP
5g.127443009G>CCA360734239MEGF10c.2374G>C (p.Gly792Arg)
c.2539G>C (p.Gly847Arg)
c.1234G>C (p.Gly412Arg)
5g.127443009G=CA1580859419MEGF10c.2374G= (p.Gly792=)
c.2539G= (p.Gly847=)
c.1234G= (p.Gly412=)
5g.127443009G>TCA360734238MEGF10c.2374G>T (p.Gly792Ter)
c.2539G>T (p.Gly847Ter)
c.1234G>T (p.Gly412Ter)
5g.127443010G>ACA360734241MEGF10c.2375G>A (p.Gly792Glu)
c.2540G>A (p.Gly847Glu)
c.1235G>A (p.Gly412Glu)
5g.127443010G>CCA360734242MEGF10c.2375G>C (p.Gly792Ala)
c.2540G>C (p.Gly847Ala)
c.1235G>C (p.Gly412Ala)
5g.127443010G>TCA360734243MEGF10c.2375G>T (p.Gly792Val)
c.2540G>T (p.Gly847Val)
c.1235G>T (p.Gly412Val)
5g.127443011A=CA1580859420MEGF10c.2376A= (p.Gly792=)
c.2541A= (p.Gly847=)
c.1236A= (p.Gly412=)
5g.127443011A>CCA446289463MEGF10c.2376A>C (p.Gly792=)
c.2541A>C (p.Gly847=)
c.1236A>C (p.Gly412=)
5g.127443011A>GCA446289462MEGF10c.2376A>G (p.Gly792=)
c.2541A>G (p.Gly847=)
c.1236A>G (p.Gly412=)
 dbSNP gnomAD v3 gnomAD v4
5g.127443011A>TCA446289461MEGF10c.2376A>T (p.Gly792=)
c.2541A>T (p.Gly847=)
c.1236A>T (p.Gly412=)
5g.127443012A=CA1580859421MEGF10c.2377A= (p.Thr793=)
c.2542A= (p.Thr848=)
c.1237A= (p.Thr413=)
5g.127443012A>CCA360734244MEGF10c.2377A>C (p.Thr793Pro)
c.2542A>C (p.Thr848Pro)
c.1237A>C (p.Thr413Pro)
 dbSNP
5g.127443012A>GCA360734245MEGF10c.2377A>G (p.Thr793Ala)
c.2542A>G (p.Thr848Ala)
c.1237A>G (p.Thr413Ala)
5g.127443012A>TCA360734246MEGF10c.2377A>T (p.Thr793Ser)
c.2542A>T (p.Thr848Ser)
c.1237A>T (p.Thr413Ser)
 gnomAD v4
5g.127443013C>ACA360734247MEGF10c.2378C>A (p.Thr793Lys)
c.2543C>A (p.Thr848Lys)
c.1238C>A (p.Thr413Lys)
 gnomAD v4
5g.127443013C=CA1580859422MEGF10c.2378C= (p.Thr793=)
c.2543C= (p.Thr848=)
c.1238C= (p.Thr413=)
5g.127443013C>GCA360734249MEGF10c.2378C>G (p.Thr793Arg)
c.2543C>G (p.Thr848Arg)
c.1238C>G (p.Thr413Arg)
 dbSNP gnomAD v3 gnomAD v4
5g.127443013C>TCA360734248MEGF10c.2378C>T (p.Thr793Ile)
c.2543C>T (p.Thr848Ile)
c.1238C>T (p.Thr413Ile)
5g.127443014A>CCA446289464MEGF10c.2379A>C (p.Thr793=)
c.2544A>C (p.Thr848=)
c.1239A>C (p.Thr413=)
5g.127443014A>GCA446289465MEGF10c.2379A>G (p.Thr793=)
c.2544A>G (p.Thr848=)
c.1239A>G (p.Thr413=)
5g.127443014A>TCA446289466MEGF10c.2379A>T (p.Thr793=)
c.2544A>T (p.Thr848=)
c.1239A>T (p.Thr413=)
5g.127443015T>ACA360734250MEGF10c.2380T>A (p.Tyr794Asn)
c.2545T>A (p.Tyr849Asn)
c.1240T>A (p.Tyr414Asn)
 COSMIC
5g.127443015T>CCA360734252MEGF10c.2380T>C (p.Tyr794His)
c.2545T>C (p.Tyr849His)
c.1240T>C (p.Tyr414His)
5g.127443015T>GCA360734251MEGF10c.2380T>G (p.Tyr794Asp)
c.2545T>G (p.Tyr849Asp)
c.1240T>G (p.Tyr414Asp)
5g.127443016A=CA1580859423MEGF10c.2381A= (p.Tyr794=)
c.2546A= (p.Tyr849=)
c.1241A= (p.Tyr414=)
5g.127443016A>CCA360734253MEGF10c.2381A>C (p.Tyr794Ser)
c.2546A>C (p.Tyr849Ser)
c.1241A>C (p.Tyr414Ser)
5g.127443016A>GCA126965174MEGF10c.2381A>G (p.Tyr794Cys)
c.2546A>G (p.Tyr849Cys)
c.1241A>G (p.Tyr414Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.127443016A>TCA360734254MEGF10c.2381A>T (p.Tyr794Phe)
c.2546A>T (p.Tyr849Phe)
c.1241A>T (p.Tyr414Phe)
5g.127443017T>ACA360734255MEGF10c.2382T>A (p.Tyr794Ter)
c.2547T>A (p.Tyr849Ter)
c.1242T>A (p.Tyr414Ter)
5g.127443017T>CCA446289468MEGF10c.2382T>C (p.Tyr794=)
c.2547T>C (p.Tyr849=)
c.1242T>C (p.Tyr414=)
5g.127443017T>GCA360734256MEGF10c.2382T>G (p.Tyr794Ter)
c.2547T>G (p.Tyr849Ter)
c.1242T>G (p.Tyr414Ter)
 COSMIC
5g.127443018G>ACA360734257MEGF10c.2383G>A (p.Gly795Ser)
c.2548G>A (p.Gly850Ser)
c.1243G>A (p.Gly415Ser)
 dbSNP
5g.127443018G>CCA360734258MEGF10c.2383G>C (p.Gly795Arg)
c.2548G>C (p.Gly850Arg)
c.1243G>C (p.Gly415Arg)
5g.127443018G=CA1580859424MEGF10c.2383G= (p.Gly795=)
c.2548G= (p.Gly850=)
c.1243G= (p.Gly415=)
5g.127443018G>TCA360734259MEGF10c.2383G>T (p.Gly795Cys)
c.2548G>T (p.Gly850Cys)
c.1243G>T (p.Gly415Cys)
5g.127443019G>ACA360734260MEGF10c.2384G>A (p.Gly795Asp)
c.2549G>A (p.Gly850Asp)
c.1244G>A (p.Gly415Asp)
 gnomAD v4
5g.127443019G>CCA360734261MEGF10c.2384G>C (p.Gly795Ala)
c.2549G>C (p.Gly850Ala)
c.1244G>C (p.Gly415Ala)
 gnomAD v4
5g.127443019G>TCA360734262MEGF10c.2384G>T (p.Gly795Val)
c.2549G>T (p.Gly850Val)
c.1244G>T (p.Gly415Val)
5g.127443020C>ACA446289470MEGF10c.2385C>A (p.Gly795=)
c.2550C>A (p.Gly850=)
c.1245C>A (p.Gly415=)
5g.127443020C>GCA446289471MEGF10c.2385C>G (p.Gly795=)
c.2550C>G (p.Gly850=)
c.1245C>G (p.Gly415=)
 gnomAD v4
5g.127443020C>TCA446289472MEGF10c.2385C>T (p.Gly795=)
c.2550C>T (p.Gly850=)
c.1245C>T (p.Gly415=)
5g.127443021T>ACA360734265MEGF10c.2386T>A (p.Tyr796Asn)
c.2551T>A (p.Tyr851Asn)
c.1246T>A (p.Tyr416Asn)
5g.127443021T>CCA360734264MEGF10c.2386T>C (p.Tyr796His)
c.2551T>C (p.Tyr851His)
c.1246T>C (p.Tyr416His)
 gnomAD v4
5g.127443021T>GCA360734263MEGF10c.2386T>G (p.Tyr796Asp)
c.2551T>G (p.Tyr851Asp)
c.1246T>G (p.Tyr416Asp)
5g.127443022A=CA1580859425MEGF10c.2387A= (p.Tyr796=)
c.2552A= (p.Tyr851=)
c.1247A= (p.Tyr416=)
5g.127443022A>CCA360734266MEGF10c.2387A>C (p.Tyr796Ser)
c.2552A>C (p.Tyr851Ser)
c.1247A>C (p.Tyr416Ser)
5g.127443022A>GCA360734267MEGF10c.2387A>G (p.Tyr796Cys)
c.2552A>G (p.Tyr851Cys)
c.1247A>G (p.Tyr416Cys)
5g.127443022A>TCA3391923MEGF10c.2387A>T (p.Tyr796Phe)
c.2552A>T (p.Tyr851Phe)
c.1247A>T (p.Tyr416Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.127443022dupCA2578394195MEGF10c.2387dup (p.Tyr796Ter)
c.2552dup (p.Tyr851Ter)
c.1247dup (p.Tyr416Ter)
5g.127443022_127443023insAAACCA126965184MEGF10c.2387_2388insAAAC (p.Tyr796Ter)
c.2552_2553insAAAC (p.Tyr851Ter)
c.1247_1248insAAAC (p.Tyr416Ter)
 dbSNP
5g.127443023T>ACA360734268MEGF10c.2388T>A (p.Tyr796Ter)
c.2553T>A (p.Tyr851Ter)
c.1248T>A (p.Tyr416Ter)
 dbSNP gnomAD v2
5g.127443023T>CCA446289473MEGF10c.2388T>C (p.Tyr796=)
c.2553T>C (p.Tyr851=)
c.1248T>C (p.Tyr416=)
 gnomAD v4
5g.127443023T>GCA360734269MEGF10c.2388T>G (p.Tyr796Ter)
c.2553T>G (p.Tyr851Ter)
c.1248T>G (p.Tyr416Ter)
5g.127443023T=CA1580859426MEGF10c.2388T= (p.Tyr796=)
c.2553T= (p.Tyr851=)
c.1248T= (p.Tyr416=)
5g.127443024G>ACA360734270MEGF10c.2389G>A (p.Gly797Ser)
c.2554G>A (p.Gly852Ser)
c.1249G>A (p.Gly417Ser)
 COSMIC
5g.127443024G>CCA360734271MEGF10c.2389G>C (p.Gly797Arg)
c.2554G>C (p.Gly852Arg)
c.1249G>C (p.Gly417Arg)
5g.127443024G>TCA360734272MEGF10c.2389G>T (p.Gly797Cys)
c.2554G>T (p.Gly852Cys)
c.1249G>T (p.Gly417Cys)
5g.127443025G>ACA360734273MEGF10c.2390G>A (p.Gly797Asp)
c.2555G>A (p.Gly852Asp)
c.1250G>A (p.Gly417Asp)
5g.127443025G>CCA360734274MEGF10c.2390G>C (p.Gly797Ala)
c.2555G>C (p.Gly852Ala)
c.1250G>C (p.Gly417Ala)
5g.127443025G>TCA360734275MEGF10c.2390G>T (p.Gly797Val)
c.2555G>T (p.Gly852Val)
c.1250G>T (p.Gly417Val)
5g.127443026C>ACA446289475MEGF10c.2391C>A (p.Gly797=)
c.2556C>A (p.Gly852=)
c.1251C>A (p.Gly417=)
5g.127443026C=CA1580859427MEGF10c.2391C= (p.Gly797=)
c.2556C= (p.Gly852=)
c.1251C= (p.Gly417=)
5g.127443026C>GCA446289476MEGF10c.2391C>G (p.Gly797=)
c.2556C>G (p.Gly852=)
c.1251C>G (p.Gly417=)
5g.127443026C>TCA3391924MEGF10c.2391C>T (p.Gly797=)
c.2556C>T (p.Gly852=)
c.1251C>T (p.Gly417=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.127443027T>ACA360734278MEGF10c.2392T>A (p.Cys798Ser)
c.2557T>A (p.Cys853Ser)
c.1252T>A (p.Cys418Ser)
5g.127443027T>CCA360734276MEGF10c.2392T>C (p.Cys798Arg)
c.2557T>C (p.Cys853Arg)
c.1252T>C (p.Cys418Arg)
5g.127443027T>GCA360734277MEGF10c.2392T>G (p.Cys798Gly)
c.2557T>G (p.Cys853Gly)
c.1252T>G (p.Cys418Gly)
 gnomAD v4
5g.127443028G>ACA360734279MEGF10c.2393G>A (p.Cys798Tyr)
c.2558G>A (p.Cys853Tyr)
c.1253G>A (p.Cys418Tyr)
5g.127443028G>CCA360734280MEGF10c.2393G>C (p.Cys798Ser)
c.2558G>C (p.Cys853Ser)
c.1253G>C (p.Cys418Ser)
5g.127443028G>TCA360734281MEGF10c.2393G>T (p.Cys798Phe)
c.2558G>T (p.Cys853Phe)
c.1253G>T (p.Cys418Phe)
5g.127443029T>ACA360734282MEGF10c.2394T>A (p.Cys798Ter)
c.2559T>A (p.Cys853Ter)
c.1254T>A (p.Cys418Ter)
5g.127443029T>CCA446289482MEGF10c.2394T>C (p.Cys798=)
c.2559T>C (p.Cys853=)
c.1254T>C (p.Cys418=)
5g.127443029T>GCA360734283MEGF10c.2394T>G (p.Cys798Trp)
c.2559T>G (p.Cys853Trp)
c.1254T>G (p.Cys418Trp)
 dbSNP
5g.127443029T=CA1580859428MEGF10c.2394T= (p.Cys798=)
c.2559T= (p.Cys853=)
c.1254T= (p.Cys418=)
5g.127443030C>ACA360734284MEGF10c.2395C>A (p.Arg799Ser)
c.2560C>A (p.Arg854Ser)
c.1255C>A (p.Arg419Ser)
 gnomAD v4
5g.127443030C=CA1580859429MEGF10c.2395C= (p.Arg799=)
c.2560C= (p.Arg854=)
c.1255C= (p.Arg419=)
5g.127443030C>GCA360734285MEGF10c.2395C>G (p.Arg799Gly)
c.2560C>G (p.Arg854Gly)
c.1255C>G (p.Arg419Gly)
5g.127443030C>TCA3391925MEGF10c.2395C>T (p.Arg799Cys)
c.2560C>T (p.Arg854Cys)
c.1255C>T (p.Arg419Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.127443031G>ACA3391926MEGF10c.2396G>A (p.Arg799His)
c.2561G>A (p.Arg854His)
c.1256G>A (p.Arg419His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.127443031G>CCA360734286MEGF10c.2396G>C (p.Arg799Pro)
c.2561G>C (p.Arg854Pro)
c.1256G>C (p.Arg419Pro)
5g.127443031G=CA1580859430MEGF10c.2396G= (p.Arg799=)
c.2561G= (p.Arg854=)
c.1256G= (p.Arg419=)
5g.127443031G>TCA360734287MEGF10c.2396G>T (p.Arg799Leu)
c.2561G>T (p.Arg854Leu)
c.1256G>T (p.Arg419Leu)
5g.127443032C>ACA446289483MEGF10c.2397C>A (p.Arg799=)
c.2562C>A (p.Arg854=)
c.1257C>A (p.Arg419=)
 ClinVar dbSNP
5g.127443032C=CA1580859431MEGF10c.2397C= (p.Arg799=)
c.2562C= (p.Arg854=)
c.1257C= (p.Arg419=)
5g.127443032C>GCA446289484MEGF10c.2397C>G (p.Arg799=)
c.2562C>G (p.Arg854=)
c.1257C>G (p.Arg419=)
5g.127443032C>TCA3391927MEGF10c.2397C>T (p.Arg799=)
c.2562C>T (p.Arg854=)
c.1257C>T (p.Arg419=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.127443033C>ACA360734288MEGF10c.2398C>A (p.Gln800Lys)
c.2563C>A (p.Gln855Lys)
c.1258C>A (p.Gln420Lys)
5g.127443033C>GCA360734290MEGF10c.2398C>G (p.Gln800Glu)
c.2563C>G (p.Gln855Glu)
c.1258C>G (p.Gln420Glu)
5g.127443033C>TCA360734289MEGF10c.2398C>T (p.Gln800Ter)
c.2563C>T (p.Gln855Ter)
c.1258C>T (p.Gln420Ter)
5g.127443034A=CA1580859432MEGF10c.2399A= (p.Gln800=)
c.2564A= (p.Gln855=)
c.1259A= (p.Gln420=)
5g.127443034A>CCA360734291MEGF10c.2399A>C (p.Gln800Pro)
c.2564A>C (p.Gln855Pro)
c.1259A>C (p.Gln420Pro)
 dbSNP gnomAD v4
5g.127443034A>GCA360734292MEGF10c.2399A>G (p.Gln800Arg)
c.2564A>G (p.Gln855Arg)
c.1259A>G (p.Gln420Arg)
5g.127443034A>TCA360734293MEGF10c.2399A>T (p.Gln800Leu)
c.2564A>T (p.Gln855Leu)
c.1259A>T (p.Gln420Leu)
5g.127443035G>ACA446289490MEGF10c.2400G>A (p.Gln800=)
c.2565G>A (p.Gln855=)
c.1260G>A (p.Gln420=)
 gnomAD v4
5g.127443035G>CCA360734294MEGF10c.2400G>C (p.Gln800His)
c.2565G>C (p.Gln855His)
c.1260G>C (p.Gln420His)
5g.127443035G>TCA360734295MEGF10c.2400G>T (p.Gln800His)
c.2565G>T (p.Gln855His)
c.1260G>T (p.Gln420His)
5g.127443035_127443037delinsGATCA1580859433MEGF10c.2400_2402delinsGAT (p.Gln800=)
c.2565_2567delinsGAT (p.Gln855=)
c.1260_1262delinsGAT (p.Gln420=)
5g.127443036A>CCA360734296MEGF10c.2401A>C (p.Ile801Leu)
c.2566A>C (p.Ile856Leu)
c.1261A>C (p.Ile421Leu)
5g.127443036A>GCA360734297MEGF10c.2401A>G (p.Ile801Val)
c.2566A>G (p.Ile856Val)
c.1261A>G (p.Ile421Val)
5g.127443036A>TCA360734298MEGF10c.2401A>T (p.Ile801Leu)
c.2566A>T (p.Ile856Leu)
c.1261A>T (p.Ile421Leu)
5g.127443038_127443039delCA1580859434MEGF10c.2403_2404del (p.Ile801MetfsTer2)
c.2568_2569del (p.Ile856MetfsTer2)
c.1263_1264del (p.Ile421MetfsTer2)
 ClinVar dbSNP
5g.127443037T>ACA360734299MEGF10c.2402T>A (p.Ile801Lys)
c.2567T>A (p.Ile856Lys)
c.1262T>A (p.Ile421Lys)
 dbSNP gnomAD v4
5g.127443037T>CCA360734300MEGF10c.2402T>C (p.Ile801Thr)
c.2567T>C (p.Ile856Thr)
c.1262T>C (p.Ile421Thr)
5g.127443037T>GCA360734301MEGF10c.2402T>G (p.Ile801Arg)
c.2567T>G (p.Ile856Arg)
c.1262T>G (p.Ile421Arg)
5g.127443038A=CA1580859435MEGF10c.2403A= (p.Ile801=)
c.2568A= (p.Ile856=)
c.1263A= (p.Ile421=)
5g.127443038A>CCA446289491MEGF10c.2403A>C (p.Ile801=)
c.2568A>C (p.Ile856=)
c.1263A>C (p.Ile421=)
5g.127443038A>GCA126965211MEGF10c.2403A>G (p.Ile801Met)
c.2568A>G (p.Ile856Met)
c.1263A>G (p.Ile421Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.127443038A>TCA446289493MEGF10c.2403A>T (p.Ile801=)
c.2568A>T (p.Ile856=)
c.1263A>T (p.Ile421=)
5g.127443039T>ACA360734304MEGF10c.2404T>A (p.Cys802Ser)
c.2569T>A (p.Cys857Ser)
c.1264T>A (p.Cys422Ser)
5g.127443039T>CCA360734302MEGF10c.2404T>C (p.Cys802Arg)
c.2569T>C (p.Cys857Arg)
c.1264T>C (p.Cys422Arg)
5g.127443039T>GCA360734303MEGF10c.2404T>G (p.Cys802Gly)
c.2569T>G (p.Cys857Gly)
c.1264T>G (p.Cys422Gly)
5g.127443040G>ACA360734305MEGF10c.2405G>A (p.Cys802Tyr)
c.2570G>A (p.Cys857Tyr)
c.1265G>A (p.Cys422Tyr)
 gnomAD v4
5g.127443040G>CCA360734306MEGF10c.2405G>C (p.Cys802Ser)
c.2570G>C (p.Cys857Ser)
c.1265G>C (p.Cys422Ser)
5g.127443040G>TCA360734307MEGF10c.2405G>T (p.Cys802Phe)
c.2570G>T (p.Cys857Phe)
c.1265G>T (p.Cys422Phe)
5g.127443041T>ACA360734308MEGF10c.2406T>A (p.Cys802Ter)
c.2571T>A (p.Cys857Ter)
c.1266T>A (p.Cys422Ter)
5g.127443041T>CCA446289495MEGF10c.2406T>C (p.Cys802=)
c.2571T>C (p.Cys857=)
c.1266T>C (p.Cys422=)
5g.127443041T>GCA360734309MEGF10c.2406T>G (p.Cys802Trp)
c.2571T>G (p.Cys857Trp)
c.1266T>G (p.Cys422Trp)
5g.127443041_127443042delinsTGCA1580859436MEGF10c.2406_2407delinsTG (p.Cys802=)
c.2571_2572delinsTG (p.Cys857=)
c.1266_1267delinsTG (p.Cys422=)
5g.127443042delCA16618106MEGF10c.2407del (p.Asp803IlefsTer3)
c.2572del (p.Asp858IlefsTer3)
c.1267del (p.Asp423IlefsTer3)
 ClinVar dbSNP
5g.127443042G>ACA360734312MEGF10c.2407G>A (p.Asp803Asn)
c.2572G>A (p.Asp858Asn)
c.1267G>A (p.Asp423Asn)
 gnomAD v4
5g.127443042G>CCA360734310MEGF10c.2407G>C (p.Asp803His)
c.2572G>C (p.Asp858His)
c.1267G>C (p.Asp423His)
5g.127443042G>TCA360734311MEGF10c.2407G>T (p.Asp803Tyr)
c.2572G>T (p.Asp858Tyr)
c.1267G>T (p.Asp423Tyr)
5g.127443043A=CA1580859437MEGF10c.2408A= (p.Asp803=)
c.2573A= (p.Asp858=)
c.1268A= (p.Asp423=)
5g.127443043A>CCA360734313MEGF10c.2408A>C (p.Asp803Ala)
c.2573A>C (p.Asp858Ala)
c.1268A>C (p.Asp423Ala)
5g.127443043A>GCA3391928MEGF10c.2408A>G (p.Asp803Gly)
c.2573A>G (p.Asp858Gly)
c.1268A>G (p.Asp423Gly)
 dbSNP ExAC gnomAD v2
5g.127443043A>TCA360734314MEGF10c.2408A>T (p.Asp803Val)
c.2573A>T (p.Asp858Val)
c.1268A>T (p.Asp423Val)
5g.127443044T>ACA360734315MEGF10c.2409T>A (p.Asp803Glu)
c.2574T>A (p.Asp858Glu)
c.1269T>A (p.Asp423Glu)
5g.127443044T>CCA446289498MEGF10c.2409T>C (p.Asp803=)
c.2574T>C (p.Asp858=)
c.1269T>C (p.Asp423=)
5g.127443044T>GCA360734316MEGF10c.2409T>G (p.Asp803Glu)
c.2574T>G (p.Asp858Glu)
c.1269T>G (p.Asp423Glu)
5g.127443045T>ACA360734319MEGF10c.2410T>A (p.Cys804Ser)
c.2575T>A (p.Cys859Ser)
c.1270T>A (p.Cys424Ser)
 ClinVar dbSNP
5g.127443045T>CCA360734317MEGF10c.2410T>C (p.Cys804Arg)
c.2575T>C (p.Cys859Arg)
c.1270T>C (p.Cys424Arg)
5g.127443045T>GCA360734318MEGF10c.2410T>G (p.Cys804Gly)
c.2575T>G (p.Cys859Gly)
c.1270T>G (p.Cys424Gly)
5g.127443047_127443050delCA2675090312MEGF10c.2412_2415del (p.Cys804Ter)
c.2577_2580del (p.Cys859Ter)
c.1272_1275del (p.Cys424Ter)
 gnomAD v4
5g.127443046G>ACA16604816MEGF10c.2411G>A (p.Cys804Tyr)
c.2576G>A (p.Cys859Tyr)
c.1271G>A (p.Cys424Tyr)
 ClinVar dbSNP
5g.127443046G>CCA360734320MEGF10c.2411G>C (p.Cys804Ser)
c.2576G>C (p.Cys859Ser)
c.1271G>C (p.Cys424Ser)
5g.127443046G=CA1580859438MEGF10c.2411G= (p.Cys804=)
c.2576G= (p.Cys859=)
c.1271G= (p.Cys424=)
5g.127443046G>TCA360734321MEGF10c.2411G>T (p.Cys804Phe)
c.2576G>T (p.Cys859Phe)
c.1271G>T (p.Cys424Phe)
5g.127443047T>ACA360734322MEGF10c.2412T>A (p.Cys804Ter)
c.2577T>A (p.Cys859Ter)
c.1272T>A (p.Cys424Ter)
5g.127443047T>CCA446289499MEGF10c.2412T>C (p.Cys804=)
c.2577T>C (p.Cys859=)
c.1272T>C (p.Cys424=)
5g.127443047T>GCA360734323MEGF10c.2412T>G (p.Cys804Trp)
c.2577T>G (p.Cys859Trp)
c.1272T>G (p.Cys424Trp)
5g.127443048C>ACA360734324MEGF10c.2413C>A (p.Leu805Met)
c.2578C>A (p.Leu860Met)
c.1273C>A (p.Leu425Met)
5g.127443048C>GCA360734325MEGF10c.2413C>G (p.Leu805Val)
c.2578C>G (p.Leu860Val)
c.1273C>G (p.Leu425Val)
5g.127443048C>TCA446289501MEGF10c.2413C>T (p.Leu805=)
c.2578C>T (p.Leu860=)
c.1273C>T (p.Leu425=)
5g.127443049T>ACA360734326MEGF10c.2414T>A (p.Leu805Gln)
c.2579T>A (p.Leu860Gln)
c.1274T>A (p.Leu425Gln)
5g.127443049T>CCA360734327MEGF10c.2414T>C (p.Leu805Pro)
c.2579T>C (p.Leu860Pro)
c.1274T>C (p.Leu425Pro)
5g.127443049T>GCA360734328MEGF10c.2414T>G (p.Leu805Arg)
c.2579T>G (p.Leu860Arg)
c.1274T>G (p.Leu425Arg)
5g.127443050G>ACA446289504MEGF10c.2415G>A (p.Leu805=)
c.2580G>A (p.Leu860=)
c.1275G>A (p.Leu425=)
5g.127443050G>CCA446289502MEGF10c.2415G>C (p.Leu805=)
c.2580G>C (p.Leu860=)
c.1275G>C (p.Leu425=)
5g.127443050G>TCA446289503MEGF10c.2415G>T (p.Leu805=)
c.2580G>T (p.Leu860=)
c.1275G>T (p.Leu425=)
 gnomAD v4
5g.127443051A>CCA360734329MEGF10c.2416A>C (p.Asn806His)
c.2581A>C (p.Asn861His)
c.1276A>C (p.Asn426His)
5g.127443051A>GCA360734330MEGF10c.2416A>G (p.Asn806Asp)
c.2581A>G (p.Asn861Asp)
c.1276A>G (p.Asn426Asp)
5g.127443051A>TCA360734331MEGF10c.2416A>T (p.Asn806Tyr)
c.2581A>T (p.Asn861Tyr)
c.1276A>T (p.Asn426Tyr)
 gnomAD v4
5g.127443052A>CCA360734332MEGF10c.2417A>C (p.Asn806Thr)
c.2582A>C (p.Asn861Thr)
c.1277A>C (p.Asn426Thr)
5g.127443052A>GCA360734334MEGF10c.2417A>G (p.Asn806Ser)
c.2582A>G (p.Asn861Ser)
c.1277A>G (p.Asn426Ser)
5g.127443052A>TCA360734333MEGF10c.2417A>T (p.Asn806Ile)
c.2582A>T (p.Asn861Ile)
c.1277A>T (p.Asn426Ile)
5g.127443053C>ACA360734335MEGF10c.2418C>A (p.Asn806Lys)
c.2583C>A (p.Asn861Lys)
c.1278C>A (p.Asn426Lys)
 dbSNP gnomAD v3 gnomAD v4
5g.127443053C=CA1580859439MEGF10c.2418C= (p.Asn806=)
c.2583C= (p.Asn861=)
c.1278C= (p.Asn426=)
5g.127443053C>GCA360734336MEGF10c.2418C>G (p.Asn806Lys)
c.2583C>G (p.Asn861Lys)
c.1278C>G (p.Asn426Lys)
5g.127443053C>TCA446289508MEGF10c.2418C>T (p.Asn806=)
c.2583C>T (p.Asn861=)
c.1278C>T (p.Asn426=)
5g.127443054A>CCA360734337MEGF10c.2419A>C (p.Asn807His)
c.2584A>C (p.Asn862His)
c.1279A>C (p.Asn427His)
5g.127443054A>GCA360734338MEGF10c.2419A>G (p.Asn807Asp)
c.2584A>G (p.Asn862Asp)
c.1279A>G (p.Asn427Asp)
5g.127443054A>TCA360734339MEGF10c.2419A>T (p.Asn807Tyr)
c.2584A>T (p.Asn862Tyr)
c.1279A>T (p.Asn427Tyr)
5g.127443055A>CCA360734340MEGF10c.2420A>C (p.Asn807Thr)
c.2585A>C (p.Asn862Thr)
c.1280A>C (p.Asn427Thr)
5g.127443055A>GCA360734341MEGF10c.2420A>G (p.Asn807Ser)
c.2585A>G (p.Asn862Ser)
c.1280A>G (p.Asn427Ser)
 gnomAD v4
5g.127443055A>TCA360734342MEGF10c.2420A>T (p.Asn807Ile)
c.2585A>T (p.Asn862Ile)
c.1280A>T (p.Asn427Ile)
5g.127443056C>ACA360734343MEGF10c.2421C>A (p.Asn807Lys)
c.2586C>A (p.Asn862Lys)
c.1281C>A (p.Asn427Lys)
5g.127443056C>GCA360734344MEGF10c.2421C>G (p.Asn807Lys)
c.2586C>G (p.Asn862Lys)
c.1281C>G (p.Asn427Lys)
 gnomAD v4
5g.127443056C>TCA446289509MEGF10c.2421C>T (p.Asn807=)
c.2586C>T (p.Asn862=)
c.1281C>T (p.Asn427=)
5g.127443057T>ACA360734345MEGF10c.2422T>A (p.Ser808Thr)
c.2587T>A (p.Ser863Thr)
c.1282T>A (p.Ser428Thr)
5g.127443057T>CCA360734346MEGF10c.2422T>C (p.Ser808Pro)
c.2587T>C (p.Ser863Pro)
c.1282T>C (p.Ser428Pro)
5g.127443057T>GCA360734347MEGF10c.2422T>G (p.Ser808Ala)
c.2587T>G (p.Ser863Ala)
c.1282T>G (p.Ser428Ala)
5g.127443058C>ACA360734349MEGF10c.2423C>A (p.Ser808Tyr)
c.2588C>A (p.Ser863Tyr)
c.1283C>A (p.Ser428Tyr)
5g.127443058C=CA1580859440MEGF10c.2423C= (p.Ser808=)
c.2588C= (p.Ser863=)
c.1283C= (p.Ser428=)
5g.127443058C>GCA3391929MEGF10c.2423C>G (p.Ser808Cys)
c.2588C>G (p.Ser863Cys)
c.1283C>G (p.Ser428Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.127443058C>TCA360734348MEGF10c.2423C>T (p.Ser808Phe)
c.2588C>T (p.Ser863Phe)
c.1283C>T (p.Ser428Phe)
5g.127443059C>ACA446289513MEGF10c.2424C>A (p.Ser808=)
c.2589C>A (p.Ser863=)
c.1284C>A (p.Ser428=)
5g.127443059C=CA1580859441MEGF10c.2424C= (p.Ser808=)
c.2589C= (p.Ser863=)
c.1284C= (p.Ser428=)
5g.127443059C>GCA446289511MEGF10c.2424C>G (p.Ser808=)
c.2589C>G (p.Ser863=)
c.1284C>G (p.Ser428=)
5g.127443059C>TCA446289512MEGF10c.2424C>T (p.Ser808=)
c.2589C>T (p.Ser863=)
c.1284C>T (p.Ser428=)
 ClinVar dbSNP gnomAD v4
5g.127443060A>CCA360734350MEGF10c.2425A>C (p.Thr809Pro)
c.2590A>C (p.Thr864Pro)
c.1285A>C (p.Thr429Pro)
5g.127443060A>GCA360734351MEGF10c.2425A>G (p.Thr809Ala)
c.2590A>G (p.Thr864Ala)
c.1285A>G (p.Thr429Ala)
5g.127443060A>TCA360734352MEGF10c.2425A>T (p.Thr809Ser)
c.2590A>T (p.Thr864Ser)
c.1285A>T (p.Thr429Ser)
5g.127443061C>ACA360734353MEGF10c.2426C>A (p.Thr809Asn)
c.2591C>A (p.Thr864Asn)
c.1286C>A (p.Thr429Asn)
5g.127443061C=CA1580859442MEGF10c.2426C= (p.Thr809=)
c.2591C= (p.Thr864=)
c.1286C= (p.Thr429=)
5g.127443061C>GCA360734354MEGF10c.2426C>G (p.Thr809Ser)
c.2591C>G (p.Thr864Ser)
c.1286C>G (p.Thr429Ser)
5g.127443061C>TCA360734355MEGF10c.2426C>T (p.Thr809Ile)
c.2591C>T (p.Thr864Ile)
c.1286C>T (p.Thr429Ile)
 dbSNP gnomAD v3 gnomAD v4
5g.127443062C>ACA446289515MEGF10c.2427C>A (p.Thr809=)
c.2592C>A (p.Thr864=)
c.1287C>A (p.Thr429=)
5g.127443062C>GCA446289516MEGF10c.2427C>G (p.Thr809=)
c.2592C>G (p.Thr864=)
c.1287C>G (p.Thr429=)
5g.127443062C>TCA446289518MEGF10c.2427C>T (p.Thr809=)
c.2592C>T (p.Thr864=)
c.1287C>T (p.Thr429=)
5g.127443063T>ACA360734356MEGF10c.2428T>A (p.Cys810Ser)
c.2593T>A (p.Cys865Ser)
c.1288T>A (p.Cys430Ser)
5g.127443063T>CCA360734357MEGF10c.2428T>C (p.Cys810Arg)
c.2593T>C (p.Cys865Arg)
c.1288T>C (p.Cys430Arg)
5g.127443063T>GCA360734358MEGF10c.2428T>G (p.Cys810Gly)
c.2593T>G (p.Cys865Gly)
c.1288T>G (p.Cys430Gly)
 dbSNP
5g.127443063T=CA1580859443MEGF10c.2428T= (p.Cys810=)
c.2593T= (p.Cys865=)
c.1288T= (p.Cys430=)
5g.127443064G>ACA360734359MEGF10c.2429G>A (p.Cys810Tyr)
c.2594G>A (p.Cys865Tyr)
c.1289G>A (p.Cys430Tyr)
 ClinVar gnomAD v4
5g.127443064G>CCA360734360MEGF10c.2429G>C (p.Cys810Ser)
c.2594G>C (p.Cys865Ser)
c.1289G>C (p.Cys430Ser)
5g.127443064G>TCA360734361MEGF10c.2429G>T (p.Cys810Phe)
c.2594G>T (p.Cys865Phe)
c.1289G>T (p.Cys430Phe)
5g.127443065C>ACA360734362MEGF10c.2430C>A (p.Cys810Ter)
c.2595C>A (p.Cys865Ter)
c.1290C>A (p.Cys430Ter)
5g.127443065C=CA1580859444MEGF10c.2430C= (p.Cys810=)
c.2595C= (p.Cys865=)
c.1290C= (p.Cys430=)
5g.127443065C>GCA360734363MEGF10c.2430C>G (p.Cys810Trp)
c.2595C>G (p.Cys865Trp)
c.1290C>G (p.Cys430Trp)
5g.127443065C>TCA3391930MEGF10c.2430C>T (p.Cys810=)
c.2595C>T (p.Cys865=)
c.1290C>T (p.Cys430=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.127443066G>ACA360734364MEGF10c.2431G>A (p.Asp811Asn)
c.2596G>A (p.Asp866Asn)
c.1291G>A (p.Asp431Asn)
 ClinVar dbSNP gnomAD v4
5g.127443066G>CCA360734365MEGF10c.2431G>C (p.Asp811His)
c.2596G>C (p.Asp866His)
c.1291G>C (p.Asp431His)
 ClinVar dbSNP
5g.127443066G=CA1580859445MEGF10c.2431G= (p.Asp811=)
c.2596G= (p.Asp866=)
c.1291G= (p.Asp431=)
5g.127443066G>TCA360734366MEGF10c.2431G>T (p.Asp811Tyr)
c.2596G>T (p.Asp866Tyr)
c.1291G>T (p.Asp431Tyr)
 gnomAD v4
5g.127443067A=CA1580859446MEGF10c.2432A= (p.Asp811=)
c.2597A= (p.Asp866=)
c.1292A= (p.Asp431=)
5g.127443067A>CCA360734367MEGF10c.2432A>C (p.Asp811Ala)
c.2597A>C (p.Asp866Ala)
c.1292A>C (p.Asp431Ala)
5g.127443067A>GCA3391931MEGF10c.2432A>G (p.Asp811Gly)
c.2597A>G (p.Asp866Gly)
c.1292A>G (p.Asp431Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.127443067A>TCA360734368MEGF10c.2432A>T (p.Asp811Val)
c.2597A>T (p.Asp866Val)
c.1292A>T (p.Asp431Val)
5g.127443068C>ACA360734369MEGF10c.2433C>A (p.Asp811Glu)
c.2598C>A (p.Asp866Glu)
c.1293C>A (p.Asp431Glu)
5g.127443068C=CA1580859447MEGF10c.2433C= (p.Asp811=)
c.2598C= (p.Asp866=)
c.1293C= (p.Asp431=)
5g.127443068C>GCA360734370MEGF10c.2433C>G (p.Asp811Glu)
c.2598C>G (p.Asp866Glu)
c.1293C>G (p.Asp431Glu)
5g.127443068C>TCA446289520MEGF10c.2433C>T (p.Asp811=)
c.2598C>T (p.Asp866=)
c.1293C>T (p.Asp431=)
 dbSNP gnomAD v4
5g.127443069C>ACA360734371MEGF10c.2434C>A (p.His812Asn)
c.2599C>A (p.His867Asn)
c.1294C>A (p.His432Asn)
5g.127443069C>GCA360734372MEGF10c.2434C>G (p.His812Asp)
c.2599C>G (p.His867Asp)
c.1294C>G (p.His432Asp)
5g.127443069C>TCA360734373MEGF10c.2434C>T (p.His812Tyr)
c.2599C>T (p.His867Tyr)
c.1294C>T (p.His432Tyr)
5g.127443070A=CA1580859448MEGF10c.2435A= (p.His812=)
c.2600A= (p.His867=)
c.1295A= (p.His432=)
5g.127443070A>CCA360734374MEGF10c.2435A>C (p.His812Pro)
c.2600A>C (p.His867Pro)
c.1295A>C (p.His432Pro)
5g.127443070A>GCA360734375MEGF10c.2435A>G (p.His812Arg)
c.2600A>G (p.His867Arg)
c.1295A>G (p.His432Arg)
5g.127443070A>TCA360734376MEGF10c.2435A>T (p.His812Leu)
c.2600A>T (p.His867Leu)
c.1295A>T (p.His432Leu)
 dbSNP COSMIC
5g.127443071C>ACA360734378MEGF10c.2436C>A (p.His812Gln)
c.2601C>A (p.His867Gln)
c.1296C>A (p.His432Gln)
5g.127443071C>GCA360734377MEGF10c.2436C>G (p.His812Gln)
c.2601C>G (p.His867Gln)
c.1296C>G (p.His432Gln)
5g.127443071C>TCA446289521MEGF10c.2436C>T (p.His812=)
c.2601C>T (p.His867=)
c.1296C>T (p.His432=)
 COSMIC
5g.127443072A=CA1580859449MEGF10c.2437A= (p.Ile813=)
c.2602A= (p.Ile868=)
c.1297A= (p.Ile433=)
5g.127443072A>CCA360734379MEGF10c.2437A>C (p.Ile813Leu)
c.2602A>C (p.Ile868Leu)
c.1297A>C (p.Ile433Leu)
5g.127443072A>GCA360734380MEGF10c.2437A>G (p.Ile813Val)
c.2602A>G (p.Ile868Val)
c.1297A>G (p.Ile433Val)
 dbSNP gnomAD v2 gnomAD v4
5g.127443072A>TCA360734381MEGF10c.2437A>T (p.Ile813Phe)
c.2602A>T (p.Ile868Phe)
c.1297A>T (p.Ile433Phe)
5g.127443073T>ACA360734382MEGF10c.2438T>A (p.Ile813Asn)
c.2603T>A (p.Ile868Asn)
c.1298T>A (p.Ile433Asn)
5g.127443073T>CCA360734383MEGF10c.2438T>C (p.Ile813Thr)
c.2603T>C (p.Ile868Thr)
c.1298T>C (p.Ile433Thr)
5g.127443073T>GCA360734384MEGF10c.2438T>G (p.Ile813Ser)
c.2603T>G (p.Ile868Ser)
c.1298T>G (p.Ile433Ser)

Number of alleles fetched