Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.5641153C>ACA366710159RNF216c.2382+1G>T (n.2382+1G>T)
c.*1499+1G>T (n.*1499+1G>T)
c.2211+1G>T (n.2211+1G>T)
n.599+1G>T
c.1077+1G>T (n.1077+1G>T)
7g.5641153C>GCA366710164RNF216c.2382+1G>C (n.2382+1G>C)
c.*1499+1G>C (n.*1499+1G>C)
c.2211+1G>C (n.2211+1G>C)
n.599+1G>C
c.1077+1G>C (n.1077+1G>C)
7g.5641153C>TCA366710161RNF216c.2382+1G>A (n.2382+1G>A)
c.*1499+1G>A (n.*1499+1G>A)
c.2211+1G>A (n.2211+1G>A)
n.599+1G>A
c.1077+1G>A (n.1077+1G>A)
 gnomAD v4
7g.5641153dupCA2681658123RNF216c.2382+1dup (n.2382+1dup)
c.*1499+1dup (n.*1499+1dup)
c.2211+1dup (n.2211+1dup)
n.599+1dup
c.1077+1dup (n.1077+1dup)
 gnomAD v4
7g.5641154A>CCA453639965RNF216c.2382T>G (p.Thr794=)
c.*1499T>G (n.*1499T>G)
c.2211T>G (p.Thr737=)
n.599T>G
c.1077T>G (p.Thr359=)
7g.5641154A>GCA453639966RNF216c.2382T>C (p.Thr794=)
c.*1499T>C (n.*1499T>C)
c.2211T>C (p.Thr737=)
n.599T>C
c.1077T>C (p.Thr359=)
7g.5641154A>TCA453639967RNF216c.2382T>A (p.Thr794=)
c.*1499T>A (n.*1499T>A)
c.2211T>A (p.Thr737=)
n.599T>A
c.1077T>A (p.Thr359=)
7g.5641155G>ACA366710166RNF216c.2381C>T (p.Thr794Ile)
c.*1498C>T (n.*1498C>T)
c.2210C>T (p.Thr737Ile)
n.598C>T
c.1076C>T (p.Thr359Ile)
7g.5641155G>CCA366710169RNF216c.2381C>G (p.Thr794Ser)
c.*1498C>G (n.*1498C>G)
c.2210C>G (p.Thr737Ser)
n.598C>G
c.1076C>G (p.Thr359Ser)
7g.5641155G>TCA366710172RNF216c.2381C>A (p.Thr794Asn)
c.*1498C>A (n.*1498C>A)
c.2210C>A (p.Thr737Asn)
n.598C>A
c.1076C>A (p.Thr359Asn)
7g.5641156T>ACA366710173RNF216c.2380A>T (p.Thr794Ser)
c.*1497A>T (n.*1497A>T)
c.2209A>T (p.Thr737Ser)
n.597A>T
c.1075A>T (p.Thr359Ser)
 gnomAD v4
7g.5641156T>CCA366710174RNF216c.2380A>G (p.Thr794Ala)
c.*1497A>G (n.*1497A>G)
c.2209A>G (p.Thr737Ala)
n.597A>G
c.1075A>G (p.Thr359Ala)
7g.5641156T>GCA366710176RNF216c.2380A>C (p.Thr794Pro)
c.*1497A>C (n.*1497A>C)
c.2209A>C (p.Thr737Pro)
n.597A>C
c.1075A>C (p.Thr359Pro)
7g.5641157G>ACA4147840RNF216c.2379C>T (p.Pro793=)
c.*1496C>T (n.*1496C>T)
c.2208C>T (p.Pro736=)
n.596C>T
c.1074C>T (p.Pro358=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5641157G>CCA453639971RNF216c.2379C>G (p.Pro793=)
c.*1496C>G (n.*1496C>G)
c.2208C>G (p.Pro736=)
n.596C>G
c.1074C>G (p.Pro358=)
7g.5641157G=CA1685037835RNF216c.2379C= (p.Pro793=)
c.*1496C= (n.*1496C=)
c.2208C= (p.Pro736=)
n.596C=
c.1074C= (p.Pro358=)
7g.5641157G>TCA453639972RNF216c.2379C>A (p.Pro793=)
c.*1496C>A (n.*1496C>A)
c.2208C>A (p.Pro736=)
n.596C>A
c.1074C>A (p.Pro358=)
7g.5641158G>ACA366710184RNF216c.2378C>T (p.Pro793Leu)
c.*1495C>T (n.*1495C>T)
c.2207C>T (p.Pro736Leu)
n.595C>T
c.1073C>T (p.Pro358Leu)
7g.5641158G>CCA366710186RNF216c.2378C>G (p.Pro793Arg)
c.*1495C>G (n.*1495C>G)
c.2207C>G (p.Pro736Arg)
n.595C>G
c.1073C>G (p.Pro358Arg)
7g.5641158G>TCA366710187RNF216c.2378C>A (p.Pro793His)
c.*1495C>A (n.*1495C>A)
c.2207C>A (p.Pro736His)
n.595C>A
c.1073C>A (p.Pro358His)
7g.5641159G>ACA366710188RNF216c.2377C>T (p.Pro793Ser)
c.*1494C>T (n.*1494C>T)
c.2206C>T (p.Pro736Ser)
n.594C>T
c.1072C>T (p.Pro358Ser)
7g.5641159G>CCA4147841RNF216c.2377C>G (p.Pro793Ala)
c.*1494C>G (n.*1494C>G)
c.2206C>G (p.Pro736Ala)
n.594C>G
c.1072C>G (p.Pro358Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5641159G=CA1685037837RNF216c.2377C= (p.Pro793=)
c.*1494C= (n.*1494C=)
c.2206C= (p.Pro736=)
n.594C=
c.1072C= (p.Pro358=)
7g.5641159G>TCA366710196RNF216c.2377C>A (p.Pro793Thr)
c.*1494C>A (n.*1494C>A)
c.2206C>A (p.Pro736Thr)
n.594C>A
c.1072C>A (p.Pro358Thr)
7g.5641160A=CA1685037841RNF216c.2376T= (p.Asp792=)
c.*1493T= (n.*1493T=)
c.2205T= (p.Asp735=)
n.593T=
c.1071T= (p.Asp357=)
7g.5641160A>CCA366710209RNF216c.2376T>G (p.Asp792Glu)
c.*1493T>G (n.*1493T>G)
c.2205T>G (p.Asp735Glu)
n.593T>G
c.1071T>G (p.Asp357Glu)
7g.5641160A>GCA4147842RNF216c.2376T>C (p.Asp792=)
c.*1493T>C (n.*1493T>C)
c.2205T>C (p.Asp735=)
n.593T>C
c.1071T>C (p.Asp357=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.5641160A>TCA366710205RNF216c.2376T>A (p.Asp792Glu)
c.*1493T>A (n.*1493T>A)
c.2205T>A (p.Asp735Glu)
n.593T>A
c.1071T>A (p.Asp357Glu)
7g.5641161T>ACA366710213RNF216c.2375A>T (p.Asp792Val)
c.*1492A>T (n.*1492A>T)
c.2204A>T (p.Asp735Val)
n.592A>T
c.1070A>T (p.Asp357Val)
7g.5641161T>CCA366710214RNF216c.2375A>G (p.Asp792Gly)
c.*1492A>G (n.*1492A>G)
c.2204A>G (p.Asp735Gly)
n.592A>G
c.1070A>G (p.Asp357Gly)
7g.5641161T>GCA366710215RNF216c.2375A>C (p.Asp792Ala)
c.*1492A>C (n.*1492A>C)
c.2204A>C (p.Asp735Ala)
n.592A>C
c.1070A>C (p.Asp357Ala)
 ClinVar dbSNP
7g.5641162C>ACA366710218RNF216c.2374G>T (p.Asp792Tyr)
c.*1491G>T (n.*1491G>T)
c.2203G>T (p.Asp735Tyr)
n.591G>T
c.1069G>T (p.Asp357Tyr)
7g.5641162C=CA1685037845RNF216c.2374G= (p.Asp792=)
c.*1491G= (n.*1491G=)
c.2203G= (p.Asp735=)
n.591G=
c.1069G= (p.Asp357=)
7g.5641162C>GCA366710219RNF216c.2374G>C (p.Asp792His)
c.*1491G>C (n.*1491G>C)
c.2203G>C (p.Asp735His)
n.591G>C
c.1069G>C (p.Asp357His)
 dbSNP gnomAD v3 gnomAD v4
7g.5641162C>TCA153208280RNF216c.2374G>A (p.Asp792Asn)
c.*1491G>A (n.*1491G>A)
c.2203G>A (p.Asp735Asn)
n.591G>A
c.1069G>A (p.Asp357Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.5641163G>ACA453639979RNF216c.2373C>T (p.Thr791=)
c.*1490C>T (n.*1490C>T)
c.2202C>T (p.Thr734=)
n.590C>T
c.1068C>T (p.Thr356=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.5641163G>CCA453639980RNF216c.2373C>G (p.Thr791=)
c.*1490C>G (n.*1490C>G)
c.2202C>G (p.Thr734=)
n.590C>G
c.1068C>G (p.Thr356=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.5641163G=CA1685037848RNF216c.2373C= (p.Thr791=)
c.*1490C= (n.*1490C=)
c.2202C= (p.Thr734=)
n.590C=
c.1068C= (p.Thr356=)
7g.5641163G>TCA453639981RNF216c.2373C>A (p.Thr791=)
c.*1490C>A (n.*1490C>A)
c.2202C>A (p.Thr734=)
n.590C>A
c.1068C>A (p.Thr356=)
7g.5641164G>ACA366710221RNF216c.2372C>T (p.Thr791Ile)
c.*1489C>T (n.*1489C>T)
c.2201C>T (p.Thr734Ile)
n.589C>T
c.1067C>T (p.Thr356Ile)
 gnomAD v4
7g.5641164G>CCA366710222RNF216c.2372C>G (p.Thr791Ser)
c.*1489C>G (n.*1489C>G)
c.2201C>G (p.Thr734Ser)
n.589C>G
c.1067C>G (p.Thr356Ser)
7g.5641164G>TCA366710227RNF216c.2372C>A (p.Thr791Asn)
c.*1489C>A (n.*1489C>A)
c.2201C>A (p.Thr734Asn)
n.589C>A
c.1067C>A (p.Thr356Asn)
 gnomAD v4 COSMIC
7g.5641165T>ACA366710234RNF216c.2371A>T (p.Thr791Ser)
c.*1488A>T (n.*1488A>T)
c.2200A>T (p.Thr734Ser)
n.588A>T
c.1066A>T (p.Thr356Ser)
7g.5641165T>CCA366710239RNF216c.2371A>G (p.Thr791Ala)
c.*1488A>G (n.*1488A>G)
c.2200A>G (p.Thr734Ala)
n.588A>G
c.1066A>G (p.Thr356Ala)
7g.5641165T>GCA366710240RNF216c.2371A>C (p.Thr791Pro)
c.*1488A>C (n.*1488A>C)
c.2200A>C (p.Thr734Pro)
n.588A>C
c.1066A>C (p.Thr356Pro)
7g.5641166C>ACA366710245RNF216c.2370G>T (p.Trp790Cys)
c.*1487G>T (n.*1487G>T)
c.2199G>T (p.Trp733Cys)
n.587G>T
c.1065G>T (p.Trp355Cys)
7g.5641166C>GCA366710243RNF216c.2370G>C (p.Trp790Cys)
c.*1487G>C (n.*1487G>C)
c.2199G>C (p.Trp733Cys)
n.587G>C
c.1065G>C (p.Trp355Cys)
7g.5641166C>TCA366710244RNF216c.2370G>A (p.Trp790Ter)
c.*1487G>A (n.*1487G>A)
c.2199G>A (p.Trp733Ter)
n.587G>A
c.1065G>A (p.Trp355Ter)
 gnomAD v4
7g.5641167C>ACA366710247RNF216c.2369G>T (p.Trp790Leu)
c.*1486G>T (n.*1486G>T)
c.2198G>T (p.Trp733Leu)
n.586G>T
c.1064G>T (p.Trp355Leu)
7g.5641167C>GCA366710253RNF216c.2369G>C (p.Trp790Ser)
c.*1486G>C (n.*1486G>C)
c.2198G>C (p.Trp733Ser)
n.586G>C
c.1064G>C (p.Trp355Ser)
7g.5641167C>TCA366710249RNF216c.2369G>A (p.Trp790Ter)
c.*1486G>A (n.*1486G>A)
c.2198G>A (p.Trp733Ter)
n.586G>A
c.1064G>A (p.Trp355Ter)
7g.5641168A>CCA366710258RNF216c.2368T>G (p.Trp790Gly)
c.*1485T>G (n.*1485T>G)
c.2197T>G (p.Trp733Gly)
n.585T>G
c.1063T>G (p.Trp355Gly)
7g.5641168A>GCA366710261RNF216c.2368T>C (p.Trp790Arg)
c.*1485T>C (n.*1485T>C)
c.2197T>C (p.Trp733Arg)
n.585T>C
c.1063T>C (p.Trp355Arg)
7g.5641168A>TCA366710264RNF216c.2368T>A (p.Trp790Arg)
c.*1485T>A (n.*1485T>A)
c.2197T>A (p.Trp733Arg)
n.585T>A
c.1063T>A (p.Trp355Arg)
7g.5641174_5641175delCA645551863RNF216c.2367_2368del (p.Trp790AspfsTer5)
c.*1484_*1485del (n.*1484_*1485del)
c.2196_2197del (p.Trp733AspfsTer5)
n.584_585del
c.1062_1063del (p.Trp355AspfsTer5)
 COSMIC
7g.5641169G>ACA453639987RNF216c.2367C>T (p.Leu789=)
c.*1484C>T (n.*1484C>T)
c.2196C>T (p.Leu732=)
n.584C>T
c.1062C>T (p.Leu354=)
7g.5641169G>CCA4147843RNF216c.2367C>G (p.Leu789=)
c.*1484C>G (n.*1484C>G)
c.2196C>G (p.Leu732=)
n.584C>G
c.1062C>G (p.Leu354=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.5641169G=CA1685037854RNF216c.2367C= (p.Leu789=)
c.*1484C= (n.*1484C=)
c.2196C= (p.Leu732=)
n.584C=
c.1062C= (p.Leu354=)
7g.5641169G>TCA453639988RNF216c.2367C>A (p.Leu789=)
c.*1484C>A (n.*1484C>A)
c.2196C>A (p.Leu732=)
n.584C>A
c.1062C>A (p.Leu354=)
7g.5641170A>CCA366710268RNF216c.2366T>G (p.Leu789Arg)
c.*1483T>G (n.*1483T>G)
c.2195T>G (p.Leu732Arg)
n.583T>G
c.1061T>G (p.Leu354Arg)
7g.5641170A>GCA366710271RNF216c.2366T>C (p.Leu789Pro)
c.*1483T>C (n.*1483T>C)
c.2195T>C (p.Leu732Pro)
n.583T>C
c.1061T>C (p.Leu354Pro)
7g.5641170A>TCA366710274RNF216c.2366T>A (p.Leu789His)
c.*1483T>A (n.*1483T>A)
c.2195T>A (p.Leu732His)
n.583T>A
c.1061T>A (p.Leu354His)
7g.5641171G>ACA366710281RNF216c.2365C>T (p.Leu789Phe)
c.*1482C>T (n.*1482C>T)
c.2194C>T (p.Leu732Phe)
n.582C>T
c.1060C>T (p.Leu354Phe)
7g.5641171G>CCA366710283RNF216c.2365C>G (p.Leu789Val)
c.*1482C>G (n.*1482C>G)
c.2194C>G (p.Leu732Val)
n.582C>G
c.1060C>G (p.Leu354Val)
 gnomAD v4
7g.5641171G>TCA366710285RNF216c.2365C>A (p.Leu789Ile)
c.*1482C>A (n.*1482C>A)
c.2194C>A (p.Leu732Ile)
n.582C>A
c.1060C>A (p.Leu354Ile)
7g.5641172A=CA1685037857RNF216c.2364T= (p.Ser788=)
c.*1481T= (n.*1481T=)
c.2193T= (p.Ser731=)
n.581T=
c.1059T= (p.Ser353=)
7g.5641172A>CCA453639990RNF216c.2364T>G (p.Ser788=)
c.*1481T>G (n.*1481T>G)
c.2193T>G (p.Ser731=)
n.581T>G
c.1059T>G (p.Ser353=)
7g.5641172A>GCA153208283RNF216c.2364T>C (p.Ser788=)
c.*1481T>C (n.*1481T>C)
c.2193T>C (p.Ser731=)
n.581T>C
c.1059T>C (p.Ser353=)
 dbSNP gnomAD v4
7g.5641172A>TCA453639991RNF216c.2364T>A (p.Ser788=)
c.*1481T>A (n.*1481T>A)
c.2193T>A (p.Ser731=)
n.581T>A
c.1059T>A (p.Ser353=)
7g.5641173G>ACA366710290RNF216c.2363C>T (p.Ser788Phe)
c.*1480C>T (n.*1480C>T)
c.2192C>T (p.Ser731Phe)
n.580C>T
c.1058C>T (p.Ser353Phe)
7g.5641173G>CCA153208287RNF216c.2363C>G (p.Ser788Cys)
c.*1480C>G (n.*1480C>G)
c.2192C>G (p.Ser731Cys)
n.580C>G
c.1058C>G (p.Ser353Cys)
 dbSNP gnomAD v2 gnomAD v4
7g.5641173G=CA1685037859RNF216c.2363C= (p.Ser788=)
c.*1480C= (n.*1480C=)
c.2192C= (p.Ser731=)
n.580C=
c.1058C= (p.Ser353=)
7g.5641173G>TCA366710293RNF216c.2363C>A (p.Ser788Tyr)
c.*1480C>A (n.*1480C>A)
c.2192C>A (p.Ser731Tyr)
n.580C>A
c.1058C>A (p.Ser353Tyr)
7g.5641174A>CCA366710294RNF216c.2362T>G (p.Ser788Ala)
c.*1479T>G (n.*1479T>G)
c.2191T>G (p.Ser731Ala)
n.579T>G
c.1057T>G (p.Ser353Ala)
7g.5641174A>GCA366710302RNF216c.2362T>C (p.Ser788Pro)
c.*1479T>C (n.*1479T>C)
c.2191T>C (p.Ser731Pro)
n.579T>C
c.1057T>C (p.Ser353Pro)
7g.5641174A>TCA366710295RNF216c.2362T>A (p.Ser788Thr)
c.*1479T>A (n.*1479T>A)
c.2191T>A (p.Ser731Thr)
n.579T>A
c.1057T>A (p.Ser353Thr)
7g.5641175G>ACA453639998RNF216c.2361C>T (p.Cys787=)
c.*1478C>T (n.*1478C>T)
c.2190C>T (p.Cys730=)
n.578C>T
c.1056C>T (p.Cys352=)
7g.5641175G>CCA366710306RNF216c.2361C>G (p.Cys787Trp)
c.*1478C>G (n.*1478C>G)
c.2190C>G (p.Cys730Trp)
n.578C>G
c.1056C>G (p.Cys352Trp)
 gnomAD v4
7g.5641175G>TCA366710310RNF216c.2361C>A (p.Cys787Ter)
c.*1478C>A (n.*1478C>A)
c.2190C>A (p.Cys730Ter)
n.578C>A
c.1056C>A (p.Cys352Ter)
7g.5641176C>ACA366710314RNF216c.2360G>T (p.Cys787Phe)
c.*1477G>T (n.*1477G>T)
c.2189G>T (p.Cys730Phe)
n.577G>T
c.1055G>T (p.Cys352Phe)
7g.5641176C=CA1685037864RNF216c.2360G= (p.Cys787=)
c.*1477G= (n.*1477G=)
c.2189G= (p.Cys730=)
n.577G=
c.1055G= (p.Cys352=)
7g.5641176C>GCA366710318RNF216c.2360G>C (p.Cys787Ser)
c.*1477G>C (n.*1477G>C)
c.2189G>C (p.Cys730Ser)
n.577G>C
c.1055G>C (p.Cys352Ser)
7g.5641176C>TCA4147844RNF216c.2360G>A (p.Cys787Tyr)
c.*1477G>A (n.*1477G>A)
c.2189G>A (p.Cys730Tyr)
n.577G>A
c.1055G>A (p.Cys352Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.5641177A>CCA366710323RNF216c.2359T>G (p.Cys787Gly)
c.*1476T>G (n.*1476T>G)
c.2188T>G (p.Cys730Gly)
n.576T>G
c.1054T>G (p.Cys352Gly)
7g.5641177A>GCA366710326RNF216c.2359T>C (p.Cys787Arg)
c.*1476T>C (n.*1476T>C)
c.2188T>C (p.Cys730Arg)
n.576T>C
c.1054T>C (p.Cys352Arg)
7g.5641177A>TCA366710328RNF216c.2359T>A (p.Cys787Ser)
c.*1476T>A (n.*1476T>A)
c.2188T>A (p.Cys730Ser)
n.576T>A
c.1054T>A (p.Cys352Ser)
7g.5641178T>ACA366710331RNF216c.2358A>T (p.Arg786Ser)
c.*1475A>T (n.*1475A>T)
c.2187A>T (p.Arg729Ser)
n.575A>T
c.1053A>T (p.Arg351Ser)
7g.5641178T>CCA453640004RNF216c.2358A>G (p.Arg786=)
c.*1475A>G (n.*1475A>G)
c.2187A>G (p.Arg729=)
n.575A>G
c.1053A>G (p.Arg351=)
 gnomAD v4
7g.5641178T>GCA366710335RNF216c.2358A>C (p.Arg786Ser)
c.*1475A>C (n.*1475A>C)
c.2187A>C (p.Arg729Ser)
n.575A>C
c.1053A>C (p.Arg351Ser)
 gnomAD v4
7g.5641179C>ACA366710357RNF216c.2357G>T (p.Arg786Ile)
c.*1474G>T (n.*1474G>T)
c.2186G>T (p.Arg729Ile)
n.574G>T
c.1052G>T (p.Arg351Ile)
7g.5641179C=CA1685037869RNF216c.2357G= (p.Arg786=)
c.*1474G= (n.*1474G=)
c.2186G= (p.Arg729=)
n.574G=
c.1052G= (p.Arg351=)
7g.5641179C>GCA366710350RNF216c.2357G>C (p.Arg786Thr)
c.*1474G>C (n.*1474G>C)
c.2186G>C (p.Arg729Thr)
n.574G>C
c.1052G>C (p.Arg351Thr)
 dbSNP
7g.5641179C>TCA366710347RNF216c.2357G>A (p.Arg786Lys)
c.*1474G>A (n.*1474G>A)
c.2186G>A (p.Arg729Lys)
n.574G>A
c.1052G>A (p.Arg351Lys)
7g.5641180T>ACA366710369RNF216c.2356A>T (p.Arg786Ter)
c.*1473A>T (n.*1473A>T)
c.2185A>T (p.Arg729Ter)
n.573A>T
c.1051A>T (p.Arg351Ter)
7g.5641180T>CCA366710366RNF216c.2356A>G (p.Arg786Gly)
c.*1473A>G (n.*1473A>G)
c.2185A>G (p.Arg729Gly)
n.573A>G
c.1051A>G (p.Arg351Gly)
 dbSNP gnomAD v2 gnomAD v4
7g.5641180T>GCA453640008RNF216c.2356A>C (p.Arg786=)
c.*1473A>C (n.*1473A>C)
c.2185A>C (p.Arg729=)
n.573A>C
c.1051A>C (p.Arg351=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.5641180T=CA1685037872RNF216c.2356A= (p.Arg786=)
c.*1473A= (n.*1473A=)
c.2185A= (p.Arg729=)
n.573A=
c.1051A= (p.Arg351=)
7g.5641181T>ACA453640012RNF216c.2355A>T (p.Ser785=)
c.*1472A>T (n.*1472A>T)
c.2184A>T (p.Ser728=)
n.572A>T
c.1050A>T (p.Ser350=)
7g.5641181T>CCA453640013RNF216c.2355A>G (p.Ser785=)
c.*1472A>G (n.*1472A>G)
c.2184A>G (p.Ser728=)
n.572A>G
c.1050A>G (p.Ser350=)
7g.5641181T>GCA453640018RNF216c.2355A>C (p.Ser785=)
c.*1472A>C (n.*1472A>C)
c.2184A>C (p.Ser728=)
n.572A>C
c.1050A>C (p.Ser350=)
7g.5641182G>ACA366710375RNF216c.2354C>T (p.Ser785Leu)
c.*1471C>T (n.*1471C>T)
c.2183C>T (p.Ser728Leu)
n.571C>T
c.1049C>T (p.Ser350Leu)
 dbSNP gnomAD v3 gnomAD v4
7g.5641182G>CCA366710380RNF216c.2354C>G (p.Ser785Ter)
c.*1471C>G (n.*1471C>G)
c.2183C>G (p.Ser728Ter)
n.571C>G
c.1049C>G (p.Ser350Ter)
7g.5641182G=CA1685037876RNF216c.2354C= (p.Ser785=)
c.*1471C= (n.*1471C=)
c.2183C= (p.Ser728=)
n.571C=
c.1049C= (p.Ser350=)
7g.5641182G>TCA366710389RNF216c.2354C>A (p.Ser785Ter)
c.*1471C>A (n.*1471C>A)
c.2183C>A (p.Ser728Ter)
n.571C>A
c.1049C>A (p.Ser350Ter)
7g.5641183A=CA1685037879RNF216c.2353T= (p.Ser785=)
c.*1470T= (n.*1470T=)
c.2182T= (p.Ser728=)
n.570T=
c.1048T= (p.Ser350=)
7g.5641183A>CCA366710392RNF216c.2353T>G (p.Ser785Ala)
c.*1470T>G (n.*1470T>G)
c.2182T>G (p.Ser728Ala)
n.570T>G
c.1048T>G (p.Ser350Ala)
7g.5641183A>GCA153208298RNF216c.2353T>C (p.Ser785Pro)
c.*1470T>C (n.*1470T>C)
c.2182T>C (p.Ser728Pro)
n.570T>C
c.1048T>C (p.Ser350Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.5641183A>TCA366710396RNF216c.2353T>A (p.Ser785Thr)
c.*1470T>A (n.*1470T>A)
c.2182T>A (p.Ser728Thr)
n.570T>A
c.1048T>A (p.Ser350Thr)
7g.5641184A>CCA366710397RNF216c.2352T>G (p.Cys784Trp)
c.*1469T>G (n.*1469T>G)
c.2181T>G (p.Cys727Trp)
n.569T>G
c.1047T>G (p.Cys349Trp)
7g.5641184A>GCA453640025RNF216c.2352T>C (p.Cys784=)
c.*1469T>C (n.*1469T>C)
c.2181T>C (p.Cys727=)
n.569T>C
c.1047T>C (p.Cys349=)
7g.5641184A>TCA366710398RNF216c.2352T>A (p.Cys784Ter)
c.*1469T>A (n.*1469T>A)
c.2181T>A (p.Cys727Ter)
n.569T>A
c.1047T>A (p.Cys349Ter)
7g.5641185C>ACA366710402RNF216c.2351G>T (p.Cys784Phe)
c.*1468G>T (n.*1468G>T)
c.2180G>T (p.Cys727Phe)
n.568G>T
c.1046G>T (p.Cys349Phe)
7g.5641185C>GCA366710405RNF216c.2351G>C (p.Cys784Ser)
c.*1468G>C (n.*1468G>C)
c.2180G>C (p.Cys727Ser)
n.568G>C
c.1046G>C (p.Cys349Ser)
7g.5641185C>TCA366710408RNF216c.2351G>A (p.Cys784Tyr)
c.*1468G>A (n.*1468G>A)
c.2180G>A (p.Cys727Tyr)
n.568G>A
c.1046G>A (p.Cys349Tyr)
7g.5641186A>CCA366710420RNF216c.2350T>G (p.Cys784Gly)
c.*1467T>G (n.*1467T>G)
c.2179T>G (p.Cys727Gly)
n.567T>G
c.1045T>G (p.Cys349Gly)
7g.5641186A>GCA366710416RNF216c.2350T>C (p.Cys784Arg)
c.*1467T>C (n.*1467T>C)
c.2179T>C (p.Cys727Arg)
n.567T>C
c.1045T>C (p.Cys349Arg)
 gnomAD v4
7g.5641186A>TCA366710412RNF216c.2350T>A (p.Cys784Ser)
c.*1467T>A (n.*1467T>A)
c.2179T>A (p.Cys727Ser)
n.567T>A
c.1045T>A (p.Cys349Ser)
7g.5641187C>ACA366710424RNF216c.2349G>T (p.Glu783Asp)
c.*1466G>T (n.*1466G>T)
c.2178G>T (p.Glu726Asp)
n.566G>T
c.1044G>T (p.Glu348Asp)
7g.5641187C>GCA366710429RNF216c.2349G>C (p.Glu783Asp)
c.*1466G>C (n.*1466G>C)
c.2178G>C (p.Glu726Asp)
n.566G>C
c.1044G>C (p.Glu348Asp)
7g.5641187C>TCA453640028RNF216c.2349G>A (p.Glu783=)
c.*1466G>A (n.*1466G>A)
c.2178G>A (p.Glu726=)
n.566G>A
c.1044G>A (p.Glu348=)
7g.5641188T>ACA366710433RNF216c.2348A>T (p.Glu783Val)
c.*1465A>T (n.*1465A>T)
c.2177A>T (p.Glu726Val)
n.565A>T
c.1043A>T (p.Glu348Val)
7g.5641188T>CCA366710435RNF216c.2348A>G (p.Glu783Gly)
c.*1465A>G (n.*1465A>G)
c.2177A>G (p.Glu726Gly)
n.565A>G
c.1043A>G (p.Glu348Gly)
 gnomAD v4
7g.5641188T>GCA366710440RNF216c.2348A>C (p.Glu783Ala)
c.*1465A>C (n.*1465A>C)
c.2177A>C (p.Glu726Ala)
n.565A>C
c.1043A>C (p.Glu348Ala)
 gnomAD v4
7g.5641189C>ACA366710451RNF216c.2347G>T (p.Glu783Ter)
c.*1464G>T (n.*1464G>T)
c.2176G>T (p.Glu726Ter)
n.564G>T
c.1042G>T (p.Glu348Ter)
7g.5641189C=CA1685037881RNF216c.2347G= (p.Glu783=)
c.*1464G= (n.*1464G=)
c.2176G= (p.Glu726=)
n.564G=
c.1042G= (p.Glu348=)
7g.5641189C>GCA4147845RNF216c.2347G>C (p.Glu783Gln)
c.*1464G>C (n.*1464G>C)
c.2176G>C (p.Glu726Gln)
n.564G>C
c.1042G>C (p.Glu348Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.5641189C>TCA366710459RNF216c.2347G>A (p.Glu783Lys)
c.*1464G>A (n.*1464G>A)
c.2176G>A (p.Glu726Lys)
n.564G>A
c.1042G>A (p.Glu348Lys)
7g.5641190C>ACA366710469RNF216c.2346G>T (p.Gln782His)
c.*1463G>T (n.*1463G>T)
c.2175G>T (p.Gln725His)
n.563G>T
c.1041G>T (p.Gln347His)
7g.5641190C>GCA366710473RNF216c.2346G>C (p.Gln782His)
c.*1463G>C (n.*1463G>C)
c.2175G>C (p.Gln725His)
n.563G>C
c.1041G>C (p.Gln347His)
7g.5641190C>TCA453640033RNF216c.2346G>A (p.Gln782=)
c.*1463G>A (n.*1463G>A)
c.2175G>A (p.Gln725=)
n.563G>A
c.1041G>A (p.Gln347=)
 gnomAD v4
7g.5641191T>ACA366710477RNF216c.2345A>T (p.Gln782Leu)
c.*1462A>T (n.*1462A>T)
c.2174A>T (p.Gln725Leu)
n.562A>T
c.1040A>T (p.Gln347Leu)
7g.5641191T>CCA366710480RNF216c.2345A>G (p.Gln782Arg)
c.*1462A>G (n.*1462A>G)
c.2174A>G (p.Gln725Arg)
n.562A>G
c.1040A>G (p.Gln347Arg)
 dbSNP
7g.5641191T>GCA366710483RNF216c.2345A>C (p.Gln782Pro)
c.*1462A>C (n.*1462A>C)
c.2174A>C (p.Gln725Pro)
n.562A>C
c.1040A>C (p.Gln347Pro)
7g.5641191T=CA1685037883RNF216c.2345A= (p.Gln782=)
c.*1462A= (n.*1462A=)
c.2174A= (p.Gln725=)
n.562A=
c.1040A= (p.Gln347=)
7g.5641192G>ACA366710488RNF216c.2344C>T (p.Gln782Ter)
c.*1461C>T (n.*1461C>T)
c.2173C>T (p.Gln725Ter)
n.561C>T
c.1039C>T (p.Gln347Ter)
 gnomAD v4
7g.5641192G>CCA366710489RNF216c.2344C>G (p.Gln782Glu)
c.*1461C>G (n.*1461C>G)
c.2173C>G (p.Gln725Glu)
n.561C>G
c.1039C>G (p.Gln347Glu)
7g.5641192G>TCA366710486RNF216c.2344C>A (p.Gln782Lys)
c.*1461C>A (n.*1461C>A)
c.2173C>A (p.Gln725Lys)
n.561C>A
c.1039C>A (p.Gln347Lys)
7g.5641193G>ACA453640039RNF216c.2343C>T (p.Cys781=)
c.*1460C>T (n.*1460C>T)
c.2172C>T (p.Cys724=)
n.560C>T
c.1038C>T (p.Cys346=)
 gnomAD v4
7g.5641193G>CCA153208307RNF216c.2343C>G (p.Cys781Trp)
c.*1460C>G (n.*1460C>G)
c.2172C>G (p.Cys724Trp)
n.560C>G
c.1038C>G (p.Cys346Trp)
 dbSNP
7g.5641193G=CA1685037886RNF216c.2343C= (p.Cys781=)
c.*1460C= (n.*1460C=)
c.2172C= (p.Cys724=)
n.560C=
c.1038C= (p.Cys346=)
7g.5641193G>TCA366710491RNF216c.2343C>A (p.Cys781Ter)
c.*1460C>A (n.*1460C>A)
c.2172C>A (p.Cys724Ter)
n.560C>A
c.1038C>A (p.Cys346Ter)
 dbSNP gnomAD v2 gnomAD v4
7g.5641194C>ACA366710497RNF216c.2342G>T (p.Cys781Phe)
c.*1459G>T (n.*1459G>T)
c.2171G>T (p.Cys724Phe)
n.559G>T
c.1037G>T (p.Cys346Phe)
7g.5641194C>GCA366710506RNF216c.2342G>C (p.Cys781Ser)
c.*1459G>C (n.*1459G>C)
c.2171G>C (p.Cys724Ser)
n.559G>C
c.1037G>C (p.Cys346Ser)
7g.5641194C>TCA366710501RNF216c.2342G>A (p.Cys781Tyr)
c.*1459G>A (n.*1459G>A)
c.2171G>A (p.Cys724Tyr)
n.559G>A
c.1037G>A (p.Cys346Tyr)
7g.5641195A>CCA366710509RNF216c.2341T>G (p.Cys781Gly)
c.*1458T>G (n.*1458T>G)
c.2170T>G (p.Cys724Gly)
n.558T>G
c.1036T>G (p.Cys346Gly)
7g.5641195A>GCA366710511RNF216c.2341T>C (p.Cys781Arg)
c.*1458T>C (n.*1458T>C)
c.2170T>C (p.Cys724Arg)
n.558T>C
c.1036T>C (p.Cys346Arg)
7g.5641195A>TCA366710514RNF216c.2341T>A (p.Cys781Ser)
c.*1458T>A (n.*1458T>A)
c.2170T>A (p.Cys724Ser)
n.558T>A
c.1036T>A (p.Cys346Ser)
7g.5641196delCA2578822605RNF216c.2341del (p.Cys781AlafsTer?)
c.*1458del (n.*1458del)
c.2170del (p.Cys724AlafsTer?)
n.558del
c.1036del (p.Cys346AlafsTer?)
7g.5641195_5641208dupCA2681658198RNF216c.2328_2341dup (p.Cys781TyrfsTer?)
c.*1445_*1458dup (n.*1445_*1458dup)
c.2157_2170dup (p.Cys724TyrfsTer?)
n.545_558dup
c.1023_1036dup (p.Cys346TyrfsTer?)
 gnomAD v4
7g.5641196A>CCA453640045RNF216c.2340T>G (p.Pro780=)
c.*1457T>G (n.*1457T>G)
c.2169T>G (p.Pro723=)
n.557T>G
c.1035T>G (p.Pro345=)
7g.5641196A>GCA453640044RNF216c.2340T>C (p.Pro780=)
c.*1457T>C (n.*1457T>C)
c.2169T>C (p.Pro723=)
n.557T>C
c.1035T>C (p.Pro345=)
7g.5641196A>TCA453640043RNF216c.2340T>A (p.Pro780=)
c.*1457T>A (n.*1457T>A)
c.2169T>A (p.Pro723=)
n.557T>A
c.1035T>A (p.Pro345=)
7g.5641197G>ACA4147846RNF216c.2339C>T (p.Pro780Leu)
c.*1456C>T (n.*1456C>T)
c.2168C>T (p.Pro723Leu)
n.556C>T
c.1034C>T (p.Pro345Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5641197G>CCA366710521RNF216c.2339C>G (p.Pro780Arg)
c.*1456C>G (n.*1456C>G)
c.2168C>G (p.Pro723Arg)
n.556C>G
c.1034C>G (p.Pro345Arg)
7g.5641197G=CA1685037892RNF216c.2339C= (p.Pro780=)
c.*1456C= (n.*1456C=)
c.2168C= (p.Pro723=)
n.556C=
c.1034C= (p.Pro345=)
7g.5641197G>TCA366710528RNF216c.2339C>A (p.Pro780His)
c.*1456C>A (n.*1456C>A)
c.2168C>A (p.Pro723His)
n.556C>A
c.1034C>A (p.Pro345His)
7g.5641198G>ACA153208311RNF216c.2338C>T (p.Pro780Ser)
c.*1455C>T (n.*1455C>T)
c.2167C>T (p.Pro723Ser)
n.555C>T
c.1033C>T (p.Pro345Ser)
 dbSNP gnomAD v3 gnomAD v4
7g.5641198G>CCA366710535RNF216c.2338C>G (p.Pro780Ala)
c.*1455C>G (n.*1455C>G)
c.2167C>G (p.Pro723Ala)
n.555C>G
c.1033C>G (p.Pro345Ala)
 dbSNP
7g.5641198G=CA1685037897RNF216c.2338C= (p.Pro780=)
c.*1455C= (n.*1455C=)
c.2167C= (p.Pro723=)
n.555C=
c.1033C= (p.Pro345=)
7g.5641198G>TCA366710539RNF216c.2338C>A (p.Pro780Thr)
c.*1455C>A (n.*1455C>A)
c.2167C>A (p.Pro723Thr)
n.555C>A
c.1033C>A (p.Pro345Thr)
7g.5641199G>ACA453640049RNF216c.2337C>T (p.Ala779=)
c.*1454C>T (n.*1454C>T)
c.2166C>T (p.Ala722=)
n.554C>T
c.1032C>T (p.Ala344=)
 gnomAD v4
7g.5641199G>CCA453640053RNF216c.2337C>G (p.Ala779=)
c.*1454C>G (n.*1454C>G)
c.2166C>G (p.Ala722=)
n.554C>G
c.1032C>G (p.Ala344=)
7g.5641199G>TCA453640050RNF216c.2337C>A (p.Ala779=)
c.*1454C>A (n.*1454C>A)
c.2166C>A (p.Ala722=)
n.554C>A
c.1032C>A (p.Ala344=)
7g.5641200G>ACA366710543RNF216c.2336C>T (p.Ala779Val)
c.*1453C>T (n.*1453C>T)
c.2165C>T (p.Ala722Val)
n.553C>T
c.1031C>T (p.Ala344Val)
 dbSNP gnomAD v2 gnomAD v4
7g.5641200G>CCA366710547RNF216c.2336C>G (p.Ala779Gly)
c.*1453C>G (n.*1453C>G)
c.2165C>G (p.Ala722Gly)
n.553C>G
c.1031C>G (p.Ala344Gly)
7g.5641200G=CA1685037900RNF216c.2336C= (p.Ala779=)
c.*1453C= (n.*1453C=)
c.2165C= (p.Ala722=)
n.553C=
c.1031C= (p.Ala344=)
7g.5641200G>TCA366710551RNF216c.2336C>A (p.Ala779Asp)
c.*1453C>A (n.*1453C>A)
c.2165C>A (p.Ala722Asp)
n.553C>A
c.1031C>A (p.Ala344Asp)
7g.5641201C>ACA366710557RNF216c.2335G>T (p.Ala779Ser)
c.*1452G>T (n.*1452G>T)
c.2164G>T (p.Ala722Ser)
n.552G>T
c.1030G>T (p.Ala344Ser)
 dbSNP
7g.5641201C=CA1685037906RNF216c.2335G= (p.Ala779=)
c.*1452G= (n.*1452G=)
c.2164G= (p.Ala722=)
n.552G=
c.1030G= (p.Ala344=)
7g.5641201C>GCA366710569RNF216c.2335G>C (p.Ala779Pro)
c.*1452G>C (n.*1452G>C)
c.2164G>C (p.Ala722Pro)
n.552G>C
c.1030G>C (p.Ala344Pro)
7g.5641201C>TCA366710564RNF216c.2335G>A (p.Ala779Thr)
c.*1452G>A (n.*1452G>A)
c.2164G>A (p.Ala722Thr)
n.552G>A
c.1030G>A (p.Ala344Thr)
 dbSNP gnomAD v3 gnomAD v4
7g.5641202T>ACA453640163RNF216c.2334A>T (p.Gly778=)
c.*1451A>T (n.*1451A>T)
c.2163A>T (p.Gly721=)
n.551A>T
c.1029A>T (p.Gly343=)
 gnomAD v4
7g.5641202T>CCA453640164RNF216c.2334A>G (p.Gly778=)
c.*1451A>G (n.*1451A>G)
c.2163A>G (p.Gly721=)
n.551A>G
c.1029A>G (p.Gly343=)
7g.5641202T>GCA4147847RNF216c.2334A>C (p.Gly778=)
c.*1451A>C (n.*1451A>C)
c.2163A>C (p.Gly721=)
n.551A>C
c.1029A>C (p.Gly343=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.5641202T=CA1685037909RNF216c.2334A= (p.Gly778=)
c.*1451A= (n.*1451A=)
c.2163A= (p.Gly721=)
n.551A=
c.1029A= (p.Gly343=)
7g.5641203C>ACA366710587RNF216c.2333G>T (p.Gly778Val)
c.*1450G>T (n.*1450G>T)
c.2162G>T (p.Gly721Val)
n.550G>T
c.1028G>T (p.Gly343Val)
7g.5641203C>GCA366710591RNF216c.2333G>C (p.Gly778Ala)
c.*1450G>C (n.*1450G>C)
c.2162G>C (p.Gly721Ala)
n.550G>C
c.1028G>C (p.Gly343Ala)
7g.5641203C>TCA366710596RNF216c.2333G>A (p.Gly778Glu)
c.*1450G>A (n.*1450G>A)
c.2162G>A (p.Gly721Glu)
n.550G>A
c.1028G>A (p.Gly343Glu)
7g.5641204C>ACA366710603RNF216c.2332G>T (p.Gly778Ter)
c.*1449G>T (n.*1449G>T)
c.2161G>T (p.Gly721Ter)
n.549G>T
c.1027G>T (p.Gly343Ter)
7g.5641204C>GCA366710607RNF216c.2332G>C (p.Gly778Arg)
c.*1449G>C (n.*1449G>C)
c.2161G>C (p.Gly721Arg)
n.549G>C
c.1027G>C (p.Gly343Arg)
7g.5641204C>TCA366710612RNF216c.2332G>A (p.Gly778Arg)
c.*1449G>A (n.*1449G>A)
c.2161G>A (p.Gly721Arg)
n.549G>A
c.1027G>A (p.Gly343Arg)
7g.5641205T>ACA453640168RNF216c.2331A>T (p.Pro777=)
c.*1448A>T (n.*1448A>T)
c.2160A>T (p.Pro720=)
n.548A>T
c.1026A>T (p.Pro342=)
7g.5641205T>CCA153208314RNF216c.2331A>G (p.Pro777=)
c.*1448A>G (n.*1448A>G)
c.2160A>G (p.Pro720=)
n.548A>G
c.1026A>G (p.Pro342=)
 dbSNP gnomAD v2 gnomAD v4
7g.5641205T>GCA453640170RNF216c.2331A>C (p.Pro777=)
c.*1448A>C (n.*1448A>C)
c.2160A>C (p.Pro720=)
n.548A>C
c.1026A>C (p.Pro342=)
7g.5641205T=CA1685037914RNF216c.2331A= (p.Pro777=)
c.*1448A= (n.*1448A=)
c.2160A= (p.Pro720=)
n.548A=
c.1026A= (p.Pro342=)
7g.5641206G>ACA366710618RNF216c.2330C>T (p.Pro777Leu)
c.*1447C>T (n.*1447C>T)
c.2159C>T (p.Pro720Leu)
n.547C>T
c.1025C>T (p.Pro342Leu)
7g.5641206G>CCA366710620RNF216c.2330C>G (p.Pro777Arg)
c.*1447C>G (n.*1447C>G)
c.2159C>G (p.Pro720Arg)
n.547C>G
c.1025C>G (p.Pro342Arg)
7g.5641206G>TCA366710623RNF216c.2330C>A (p.Pro777Gln)
c.*1447C>A (n.*1447C>A)
c.2159C>A (p.Pro720Gln)
n.547C>A
c.1025C>A (p.Pro342Gln)
7g.5641207G>ACA366710636RNF216c.2329C>T (p.Pro777Ser)
c.*1446C>T (n.*1446C>T)
c.2158C>T (p.Pro720Ser)
n.546C>T
c.1024C>T (p.Pro342Ser)
7g.5641207G>CCA4147848RNF216c.2329C>G (p.Pro777Ala)
c.*1446C>G (n.*1446C>G)
c.2158C>G (p.Pro720Ala)
n.546C>G
c.1024C>G (p.Pro342Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.5641207G=CA1685037917RNF216c.2329C= (p.Pro777=)
c.*1446C= (n.*1446C=)
c.2158C= (p.Pro720=)
n.546C=
c.1024C= (p.Pro342=)
7g.5641207G>TCA366710628RNF216c.2329C>A (p.Pro777Thr)
c.*1446C>A (n.*1446C>A)
c.2158C>A (p.Pro720Thr)
n.546C>A
c.1024C>A (p.Pro342Thr)
7g.5641208T>ACA453640174RNF216c.2328A>T (p.Ser776=)
c.*1445A>T (n.*1445A>T)
c.2157A>T (p.Ser719=)
n.545A>T
c.1023A>T (p.Ser341=)
 gnomAD v4
7g.5641208T>CCA453640175RNF216c.2328A>G (p.Ser776=)
c.*1445A>G (n.*1445A>G)
c.2157A>G (p.Ser719=)
n.545A>G
c.1023A>G (p.Ser341=)
 gnomAD v4
7g.5641208T>GCA453640177RNF216c.2328A>C (p.Ser776=)
c.*1445A>C (n.*1445A>C)
c.2157A>C (p.Ser719=)
n.545A>C
c.1023A>C (p.Ser341=)
7g.5641209G>ACA366710638RNF216c.2327C>T (p.Ser776Leu)
c.*1444C>T (n.*1444C>T)
c.2156C>T (p.Ser719Leu)
n.544C>T
c.1022C>T (p.Ser341Leu)
7g.5641209G>CCA366710640RNF216c.2327C>G (p.Ser776Ter)
c.*1444C>G (n.*1444C>G)
c.2156C>G (p.Ser719Ter)
n.544C>G
c.1022C>G (p.Ser341Ter)
7g.5641209G>TCA366710643RNF216c.2327C>A (p.Ser776Ter)
c.*1444C>A (n.*1444C>A)
c.2156C>A (p.Ser719Ter)
n.544C>A
c.1022C>A (p.Ser341Ter)
7g.5641210A>CCA366710648RNF216c.2326T>G (p.Ser776Ala)
c.*1443T>G (n.*1443T>G)
c.2155T>G (p.Ser719Ala)
n.543T>G
c.1021T>G (p.Ser341Ala)
7g.5641210A>GCA366710653RNF216c.2326T>C (p.Ser776Pro)
c.*1443T>C (n.*1443T>C)
c.2155T>C (p.Ser719Pro)
n.543T>C
c.1021T>C (p.Ser341Pro)
7g.5641210A>TCA366710663RNF216c.2326T>A (p.Ser776Thr)
c.*1443T>A (n.*1443T>A)
c.2155T>A (p.Ser719Thr)
n.543T>A
c.1021T>A (p.Ser341Thr)
 COSMIC
7g.5641211G>ACA453640179RNF216c.2325C>T (p.Arg775=)
c.*1442C>T (n.*1442C>T)
c.2154C>T (p.Arg718=)
n.542C>T
c.1020C>T (p.Arg340=)
 dbSNP gnomAD v3 gnomAD v4
7g.5641211G>CCA453640180RNF216c.2325C>G (p.Arg775=)
c.*1442C>G (n.*1442C>G)
c.2154C>G (p.Arg718=)
n.542C>G
c.1020C>G (p.Arg340=)
7g.5641211G=CA1685037919RNF216c.2325C= (p.Arg775=)
c.*1442C= (n.*1442C=)
c.2154C= (p.Arg718=)
n.542C=
c.1020C= (p.Arg340=)
7g.5641211G>TCA453640181RNF216c.2325C>A (p.Arg775=)
c.*1442C>A (n.*1442C>A)
c.2154C>A (p.Arg718=)
n.542C>A
c.1020C>A (p.Arg340=)
7g.5641212C>ACA366710672RNF216c.2324G>T (p.Arg775Leu)
c.*1441G>T (n.*1441G>T)
c.2153G>T (p.Arg718Leu)
n.541G>T
c.1019G>T (p.Arg340Leu)
7g.5641212C>GCA366710668RNF216c.2324G>C (p.Arg775Pro)
c.*1441G>C (n.*1441G>C)
c.2153G>C (p.Arg718Pro)
n.541G>C
c.1019G>C (p.Arg340Pro)
7g.5641212C>TCA366710670RNF216c.2324G>A (p.Arg775His)
c.*1441G>A (n.*1441G>A)
c.2153G>A (p.Arg718His)
n.541G>A
c.1019G>A (p.Arg340His)
 gnomAD v4
7g.5641213G>ACA366710676RNF216c.2323C>T (p.Arg775Cys)
c.*1440C>T (n.*1440C>T)
c.2152C>T (p.Arg718Cys)
n.540C>T
c.1018C>T (p.Arg340Cys)
 dbSNP gnomAD v3 gnomAD v4
7g.5641213G>CCA366710680RNF216c.2323C>G (p.Arg775Gly)
c.*1440C>G (n.*1440C>G)
c.2152C>G (p.Arg718Gly)
n.540C>G
c.1018C>G (p.Arg340Gly)
7g.5641213G=CA1685037921RNF216c.2323C= (p.Arg775=)
c.*1440C= (n.*1440C=)
c.2152C= (p.Arg718=)
n.540C=
c.1018C= (p.Arg340=)
7g.5641213G>TCA366710683RNF216c.2323C>A (p.Arg775Ser)
c.*1440C>A (n.*1440C>A)
c.2152C>A (p.Arg718Ser)
n.540C>A
c.1018C>A (p.Arg340Ser)
7g.5641214G>ACA453640184RNF216c.2322C>T (p.Pro774=)
c.*1439C>T (n.*1439C>T)
c.2151C>T (p.Pro717=)
n.539C>T
c.1017C>T (p.Pro339=)
 dbSNP gnomAD v3 gnomAD v4
7g.5641214G>CCA4147849RNF216c.2322C>G (p.Pro774=)
c.*1439C>G (n.*1439C>G)
c.2151C>G (p.Pro717=)
n.539C>G
c.1017C>G (p.Pro339=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.5641214G=CA1685037924RNF216c.2322C= (p.Pro774=)
c.*1439C= (n.*1439C=)
c.2151C= (p.Pro717=)
n.539C=
c.1017C= (p.Pro339=)
7g.5641214G>TCA4147850RNF216c.2322C>A (p.Pro774=)
c.*1439C>A (n.*1439C>A)
c.2151C>A (p.Pro717=)
n.539C>A
c.1017C>A (p.Pro339=)
 dbSNP ExAC gnomAD v2
7g.5641215G>ACA366710687RNF216c.2321C>T (p.Pro774Leu)
c.*1438C>T (n.*1438C>T)
c.2150C>T (p.Pro717Leu)
n.538C>T
c.1016C>T (p.Pro339Leu)
 dbSNP
7g.5641215G>CCA366710698RNF216c.2321C>G (p.Pro774Arg)
c.*1438C>G (n.*1438C>G)
c.2150C>G (p.Pro717Arg)
n.538C>G
c.1016C>G (p.Pro339Arg)
7g.5641215G=CA1685037928RNF216c.2321C= (p.Pro774=)
c.*1438C= (n.*1438C=)
c.2150C= (p.Pro717=)
n.538C=
c.1016C= (p.Pro339=)
7g.5641215G>TCA366710691RNF216c.2321C>A (p.Pro774His)
c.*1438C>A (n.*1438C>A)
c.2150C>A (p.Pro717His)
n.538C>A
c.1016C>A (p.Pro339His)
7g.5641216G>ACA366710702RNF216c.2320C>T (p.Pro774Ser)
c.*1437C>T (n.*1437C>T)
c.2149C>T (p.Pro717Ser)
n.537C>T
c.1015C>T (p.Pro339Ser)
7g.5641216G>CCA366710708RNF216c.2320C>G (p.Pro774Ala)
c.*1437C>G (n.*1437C>G)
c.2149C>G (p.Pro717Ala)
n.537C>G
c.1015C>G (p.Pro339Ala)
 dbSNP gnomAD v3 gnomAD v4
7g.5641216G=CA1685037931RNF216c.2320C= (p.Pro774=)
c.*1437C= (n.*1437C=)
c.2149C= (p.Pro717=)
n.537C=
c.1015C= (p.Pro339=)
7g.5641216G>TCA366710712RNF216c.2320C>A (p.Pro774Thr)
c.*1437C>A (n.*1437C>A)
c.2149C>A (p.Pro717Thr)
n.537C>A
c.1015C>A (p.Pro339Thr)
 dbSNP gnomAD v3 gnomAD v4
7g.5641217A>CCA366710713RNF216c.2319T>G (p.His773Gln)
c.*1436T>G (n.*1436T>G)
c.2148T>G (p.His716Gln)
n.536T>G
c.1014T>G (p.His338Gln)
7g.5641217A>GCA453640187RNF216c.2319T>C (p.His773=)
c.*1436T>C (n.*1436T>C)
c.2148T>C (p.His716=)
n.536T>C
c.1014T>C (p.His338=)
7g.5641217A>TCA366710716RNF216c.2319T>A (p.His773Gln)
c.*1436T>A (n.*1436T>A)
c.2148T>A (p.His716Gln)
n.536T>A
c.1014T>A (p.His338Gln)
7g.5641218T>ACA366710719RNF216c.2318A>T (p.His773Leu)
c.*1435A>T (n.*1435A>T)
c.2147A>T (p.His716Leu)
n.535A>T
c.1013A>T (p.His338Leu)
7g.5641218T>CCA366710720RNF216c.2318A>G (p.His773Arg)
c.*1435A>G (n.*1435A>G)
c.2147A>G (p.His716Arg)
n.535A>G
c.1013A>G (p.His338Arg)
 dbSNP
7g.5641218T>GCA366710722RNF216c.2318A>C (p.His773Pro)
c.*1435A>C (n.*1435A>C)
c.2147A>C (p.His716Pro)
n.535A>C
c.1013A>C (p.His338Pro)
7g.5641218T=CA1685037934RNF216c.2318A= (p.His773=)
c.*1435A= (n.*1435A=)
c.2147A= (p.His716=)
n.535A=
c.1013A= (p.His338=)
7g.5641219G>ACA366710724RNF216c.2317C>T (p.His773Tyr)
c.*1434C>T (n.*1434C>T)
c.2146C>T (p.His716Tyr)
n.534C>T
c.1012C>T (p.His338Tyr)
 dbSNP gnomAD v3 gnomAD v4
7g.5641219G>CCA366710725RNF216c.2317C>G (p.His773Asp)
c.*1434C>G (n.*1434C>G)
c.2146C>G (p.His716Asp)
n.534C>G
c.1012C>G (p.His338Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.5641219G=CA1685037936RNF216c.2317C= (p.His773=)
c.*1434C= (n.*1434C=)
c.2146C= (p.His716=)
n.534C=
c.1012C= (p.His338=)
7g.5641219G>TCA366710726RNF216c.2317C>A (p.His773Asn)
c.*1434C>A (n.*1434C>A)
c.2146C>A (p.His716Asn)
n.534C>A
c.1012C>A (p.His338Asn)
7g.5641220T>ACA366710743RNF216c.2316A>T (p.Gln772His)
c.*1433A>T (n.*1433A>T)
c.2145A>T (p.Gln715His)
n.533A>T
c.1011A>T (p.Gln337His)
 COSMIC
7g.5641220T>CCA4147851RNF216c.2316A>G (p.Gln772=)
c.*1433A>G (n.*1433A>G)
c.2145A>G (p.Gln715=)
n.533A>G
c.1011A>G (p.Gln337=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5641220T>GCA366710729RNF216c.2316A>C (p.Gln772His)
c.*1433A>C (n.*1433A>C)
c.2145A>C (p.Gln715His)
n.533A>C
c.1011A>C (p.Gln337His)
7g.5641220T=CA1685037940RNF216c.2316A= (p.Gln772=)
c.*1433A= (n.*1433A=)
c.2145A= (p.Gln715=)
n.533A=
c.1011A= (p.Gln337=)
7g.5641221T>ACA366710746RNF216c.2315A>T (p.Gln772Leu)
c.*1432A>T (n.*1432A>T)
c.2144A>T (p.Gln715Leu)
n.532A>T
c.1010A>T (p.Gln337Leu)
7g.5641221T>CCA366710748RNF216c.2315A>G (p.Gln772Arg)
c.*1432A>G (n.*1432A>G)
c.2144A>G (p.Gln715Arg)
n.532A>G
c.1010A>G (p.Gln337Arg)
 gnomAD v4
7g.5641221T>GCA366710747RNF216c.2315A>C (p.Gln772Pro)
c.*1432A>C (n.*1432A>C)
c.2144A>C (p.Gln715Pro)
n.532A>C
c.1010A>C (p.Gln337Pro)
7g.5641222G>ACA366710751RNF216c.2314C>T (p.Gln772Ter)
c.*1431C>T (n.*1431C>T)
c.2143C>T (p.Gln715Ter)
n.531C>T
c.1009C>T (p.Gln337Ter)
7g.5641222G>CCA366710755RNF216c.2314C>G (p.Gln772Glu)
c.*1431C>G (n.*1431C>G)
c.2143C>G (p.Gln715Glu)
n.531C>G
c.1009C>G (p.Gln337Glu)
7g.5641222G>TCA366710759RNF216c.2314C>A (p.Gln772Lys)
c.*1431C>A (n.*1431C>A)
c.2143C>A (p.Gln715Lys)
n.531C>A
c.1009C>A (p.Gln337Lys)
7g.5641223G>ACA453640191RNF216c.2313C>T (p.Cys771=)
c.*1430C>T (n.*1430C>T)
c.2142C>T (p.Cys714=)
n.530C>T
c.1008C>T (p.Cys336=)
 COSMIC
7g.5641223G>CCA366710764RNF216c.2313C>G (p.Cys771Trp)
c.*1430C>G (n.*1430C>G)
c.2142C>G (p.Cys714Trp)
n.530C>G
c.1008C>G (p.Cys336Trp)
7g.5641223G>TCA366710765RNF216c.2313C>A (p.Cys771Ter)
c.*1430C>A (n.*1430C>A)
c.2142C>A (p.Cys714Ter)
n.530C>A
c.1008C>A (p.Cys336Ter)
7g.5641224C>ACA366710769RNF216c.2312G>T (p.Cys771Phe)
c.*1429G>T (n.*1429G>T)
c.2141G>T (p.Cys714Phe)
n.529G>T
c.1007G>T (p.Cys336Phe)
7g.5641224C>GCA366710774RNF216c.2312G>C (p.Cys771Ser)
c.*1429G>C (n.*1429G>C)
c.2141G>C (p.Cys714Ser)
n.529G>C
c.1007G>C (p.Cys336Ser)
7g.5641224C>TCA366710781RNF216c.2312G>A (p.Cys771Tyr)
c.*1429G>A (n.*1429G>A)
c.2141G>A (p.Cys714Tyr)
n.529G>A
c.1007G>A (p.Cys336Tyr)
7g.5641225A>CCA366710786RNF216c.2311T>G (p.Cys771Gly)
c.*1428T>G (n.*1428T>G)
c.2140T>G (p.Cys714Gly)
n.528T>G
c.1006T>G (p.Cys336Gly)
7g.5641225A>GCA366710787RNF216c.2311T>C (p.Cys771Arg)
c.*1428T>C (n.*1428T>C)
c.2140T>C (p.Cys714Arg)
n.528T>C
c.1006T>C (p.Cys336Arg)
7g.5641225A>TCA366710788RNF216c.2311T>A (p.Cys771Ser)
c.*1428T>A (n.*1428T>A)
c.2140T>A (p.Cys714Ser)
n.528T>A
c.1006T>A (p.Cys336Ser)
7g.5641226G>ACA453640193RNF216c.2310C>T (p.Phe770=)
c.*1427C>T (n.*1427C>T)
c.2139C>T (p.Phe713=)
n.527C>T
c.1005C>T (p.Phe335=)
 gnomAD v4
7g.5641226G>CCA366710792RNF216c.2310C>G (p.Phe770Leu)
c.*1427C>G (n.*1427C>G)
c.2139C>G (p.Phe713Leu)
n.527C>G
c.1005C>G (p.Phe335Leu)
7g.5641226G>TCA366710793RNF216c.2310C>A (p.Phe770Leu)
c.*1427C>A (n.*1427C>A)
c.2139C>A (p.Phe713Leu)
n.527C>A
c.1005C>A (p.Phe335Leu)
7g.5641227A>CCA366710802RNF216c.2309T>G (p.Phe770Cys)
c.*1426T>G (n.*1426T>G)
c.2138T>G (p.Phe713Cys)
n.526T>G
c.1004T>G (p.Phe335Cys)
7g.5641227A>GCA366710807RNF216c.2309T>C (p.Phe770Ser)
c.*1426T>C (n.*1426T>C)
c.2138T>C (p.Phe713Ser)
n.526T>C
c.1004T>C (p.Phe335Ser)
7g.5641227A>TCA366710805RNF216c.2309T>A (p.Phe770Tyr)
c.*1426T>A (n.*1426T>A)
c.2138T>A (p.Phe713Tyr)
n.526T>A
c.1004T>A (p.Phe335Tyr)
7g.5641228A>CCA366710810RNF216c.2308T>G (p.Phe770Val)
c.*1425T>G (n.*1425T>G)
c.2137T>G (p.Phe713Val)
n.525T>G
c.1003T>G (p.Phe335Val)
7g.5641228A>GCA366710814RNF216c.2308T>C (p.Phe770Leu)
c.*1425T>C (n.*1425T>C)
c.2137T>C (p.Phe713Leu)
n.525T>C
c.1003T>C (p.Phe335Leu)
7g.5641228A>TCA366710832RNF216c.2308T>A (p.Phe770Ile)
c.*1425T>A (n.*1425T>A)
c.2137T>A (p.Phe713Ile)
n.525T>A
c.1003T>A (p.Phe335Ile)
7g.5641229A>CCA366710834RNF216c.2307T>G (p.His769Gln)
c.*1424T>G (n.*1424T>G)
c.2136T>G (p.His712Gln)
n.524T>G
c.1002T>G (p.His334Gln)
7g.5641229A>GCA453640195RNF216c.2307T>C (p.His769=)
c.*1424T>C (n.*1424T>C)
c.2136T>C (p.His712=)
n.524T>C
c.1002T>C (p.His334=)
7g.5641229A>TCA366710840RNF216c.2307T>A (p.His769Gln)
c.*1424T>A (n.*1424T>A)
c.2136T>A (p.His712Gln)
n.524T>A
c.1002T>A (p.His334Gln)
7g.5641230T>ACA366710858RNF216c.2306A>T (p.His769Leu)
c.*1423A>T (n.*1423A>T)
c.2135A>T (p.His712Leu)
n.523A>T
c.1001A>T (p.His334Leu)
7g.5641230T>CCA366710862RNF216c.2306A>G (p.His769Arg)
c.*1423A>G (n.*1423A>G)
c.2135A>G (p.His712Arg)
n.523A>G
c.1001A>G (p.His334Arg)
 gnomAD v4
7g.5641230T>GCA366710866RNF216c.2306A>C (p.His769Pro)
c.*1423A>C (n.*1423A>C)
c.2135A>C (p.His712Pro)
n.523A>C
c.1001A>C (p.His334Pro)
7g.5641231G>ACA366710870RNF216c.2305C>T (p.His769Tyr)
c.*1422C>T (n.*1422C>T)
c.2134C>T (p.His712Tyr)
n.522C>T
c.1000C>T (p.His334Tyr)
7g.5641231G>CCA366710871RNF216c.2305C>G (p.His769Asp)
c.*1422C>G (n.*1422C>G)
c.2134C>G (p.His712Asp)
n.522C>G
c.1000C>G (p.His334Asp)
7g.5641231G>TCA366710874RNF216c.2305C>A (p.His769Asn)
c.*1422C>A (n.*1422C>A)
c.2134C>A (p.His712Asn)
n.522C>A
c.1000C>A (p.His334Asn)
7g.5641232G>ACA453640199RNF216c.2304C>T (p.Asp768=)
c.*1421C>T (n.*1421C>T)
c.2133C>T (p.Asp711=)
n.521C>T
c.999C>T (p.Asp333=)
7g.5641232G>CCA4147852RNF216c.2304C>G (p.Asp768Glu)
c.*1421C>G (n.*1421C>G)
c.2133C>G (p.Asp711Glu)
n.521C>G
c.999C>G (p.Asp333Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.5641232G=CA1685037943RNF216c.2304C= (p.Asp768=)
c.*1421C= (n.*1421C=)
c.2133C= (p.Asp711=)
n.521C=
c.999C= (p.Asp333=)
7g.5641232G>TCA366710882RNF216c.2304C>A (p.Asp768Glu)
c.*1421C>A (n.*1421C>A)
c.2133C>A (p.Asp711Glu)
n.521C>A
c.999C>A (p.Asp333Glu)
7g.5641233T>ACA366710888RNF216c.2303A>T (p.Asp768Val)
c.*1420A>T (n.*1420A>T)
c.2132A>T (p.Asp711Val)
n.520A>T
c.998A>T (p.Asp333Val)
7g.5641233T>CCA366710891RNF216c.2303A>G (p.Asp768Gly)
c.*1420A>G (n.*1420A>G)
c.2132A>G (p.Asp711Gly)
n.520A>G
c.998A>G (p.Asp333Gly)
 dbSNP gnomAD v3 gnomAD v4
7g.5641233T>GCA366710895RNF216c.2303A>C (p.Asp768Ala)
c.*1420A>C (n.*1420A>C)
c.2132A>C (p.Asp711Ala)
n.520A>C
c.998A>C (p.Asp333Ala)
7g.5641233T=CA1685037947RNF216c.2303A= (p.Asp768=)
c.*1420A= (n.*1420A=)
c.2132A= (p.Asp711=)
n.520A=
c.998A= (p.Asp333=)
7g.5641234C>ACA366710909RNF216c.2302G>T (p.Asp768Tyr)
c.*1419G>T (n.*1419G>T)
c.2131G>T (p.Asp711Tyr)
n.519G>T
c.997G>T (p.Asp333Tyr)
7g.5641234C>GCA366710910RNF216c.2302G>C (p.Asp768His)
c.*1419G>C (n.*1419G>C)
c.2131G>C (p.Asp711His)
n.519G>C
c.997G>C (p.Asp333His)
7g.5641234C>TCA366710913RNF216c.2302G>A (p.Asp768Asn)
c.*1419G>A (n.*1419G>A)
c.2131G>A (p.Asp711Asn)
n.519G>A
c.997G>A (p.Asp333Asn)
7g.5641235A>CCA366710925RNF216c.2301T>G (p.Tyr767Ter)
c.*1418T>G (n.*1418T>G)
c.2130T>G (p.Tyr710Ter)
n.518T>G
c.996T>G (p.Tyr332Ter)
7g.5641235A>GCA453640203RNF216c.2301T>C (p.Tyr767=)
c.*1418T>C (n.*1418T>C)
c.2130T>C (p.Tyr710=)
n.518T>C
c.996T>C (p.Tyr332=)
7g.5641235A>TCA366710917RNF216c.2301T>A (p.Tyr767Ter)
c.*1418T>A (n.*1418T>A)
c.2130T>A (p.Tyr710Ter)
n.518T>A
c.996T>A (p.Tyr332Ter)
7g.5641236T>ACA366710927RNF216c.2300A>T (p.Tyr767Phe)
c.*1417A>T (n.*1417A>T)
c.2129A>T (p.Tyr710Phe)
n.517A>T
c.995A>T (p.Tyr332Phe)
7g.5641236T>CCA366710928RNF216c.2300A>G (p.Tyr767Cys)
c.*1417A>G (n.*1417A>G)
c.2129A>G (p.Tyr710Cys)
n.517A>G
c.995A>G (p.Tyr332Cys)
7g.5641236T>GCA366710930RNF216c.2300A>C (p.Tyr767Ser)
c.*1417A>C (n.*1417A>C)
c.2129A>C (p.Tyr710Ser)
n.517A>C
c.995A>C (p.Tyr332Ser)
7g.5641237A>CCA366710943RNF216c.2299T>G (p.Tyr767Asp)
c.*1416T>G (n.*1416T>G)
c.2128T>G (p.Tyr710Asp)
n.516T>G
c.994T>G (p.Tyr332Asp)
7g.5641237A>GCA366710950RNF216c.2299T>C (p.Tyr767His)
c.*1416T>C (n.*1416T>C)
c.2128T>C (p.Tyr710His)
n.516T>C
c.994T>C (p.Tyr332His)
7g.5641237A>TCA366710956RNF216c.2299T>A (p.Tyr767Asn)
c.*1416T>A (n.*1416T>A)
c.2128T>A (p.Tyr710Asn)
n.516T>A
c.994T>A (p.Tyr332Asn)
7g.5641238T>ACA453640205RNF216c.2298A>T (p.Gly766=)
c.*1415A>T (n.*1415A>T)
c.2127A>T (p.Gly709=)
n.515A>T
c.993A>T (p.Gly331=)
7g.5641238T>CCA453640206RNF216c.2298A>G (p.Gly766=)
c.*1415A>G (n.*1415A>G)
c.2127A>G (p.Gly709=)
n.515A>G
c.993A>G (p.Gly331=)
 gnomAD v4
7g.5641238T>GCA453640207RNF216c.2298A>C (p.Gly766=)
c.*1415A>C (n.*1415A>C)
c.2127A>C (p.Gly709=)
n.515A>C
c.993A>C (p.Gly331=)
7g.5641239C>ACA366710969RNF216c.2297G>T (p.Gly766Val)
c.*1414G>T (n.*1414G>T)
c.2126G>T (p.Gly709Val)
n.514G>T
c.992G>T (p.Gly331Val)
7g.5641239C=CA1685037949RNF216c.2297G= (p.Gly766=)
c.*1414G= (n.*1414G=)
c.2126G= (p.Gly709=)
n.514G=
c.992G= (p.Gly331=)
7g.5641239C>GCA366710977RNF216c.2297G>C (p.Gly766Ala)
c.*1414G>C (n.*1414G>C)
c.2126G>C (p.Gly709Ala)
n.514G>C
c.992G>C (p.Gly331Ala)
7g.5641239C>TCA4147853RNF216c.2297G>A (p.Gly766Glu)
c.*1414G>A (n.*1414G>A)
c.2126G>A (p.Gly709Glu)
n.514G>A
c.992G>A (p.Gly331Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5641240C>ACA366710983RNF216c.2296G>T (p.Gly766Ter)
c.*1413G>T (n.*1413G>T)
c.2125G>T (p.Gly709Ter)
n.513G>T
c.991G>T (p.Gly331Ter)
7g.5641240C>GCA366710986RNF216c.2296G>C (p.Gly766Arg)
c.*1413G>C (n.*1413G>C)
c.2125G>C (p.Gly709Arg)
n.513G>C
c.991G>C (p.Gly331Arg)
7g.5641240C>TCA366710993RNF216c.2296G>A (p.Gly766Arg)
c.*1413G>A (n.*1413G>A)
c.2125G>A (p.Gly709Arg)
n.513G>A
c.991G>A (p.Gly331Arg)
 gnomAD v4
7g.5641241A>CCA366710999RNF216c.2295T>G (p.Asn765Lys)
c.*1412T>G (n.*1412T>G)
c.2124T>G (p.Asn708Lys)
n.512T>G
c.990T>G (p.Asn330Lys)
7g.5641241A>GCA453640208RNF216c.2295T>C (p.Asn765=)
c.*1412T>C (n.*1412T>C)
c.2124T>C (p.Asn708=)
n.512T>C
c.990T>C (p.Asn330=)
7g.5641241A>TCA366711003RNF216c.2295T>A (p.Asn765Lys)
c.*1412T>A (n.*1412T>A)
c.2124T>A (p.Asn708Lys)
n.512T>A
c.990T>A (p.Asn330Lys)
7g.5641242T>ACA366711004RNF216c.2294A>T (p.Asn765Ile)
c.*1411A>T (n.*1411A>T)
c.2123A>T (p.Asn708Ile)
n.511A>T
c.989A>T (p.Asn330Ile)
7g.5641242T>CCA366711005RNF216c.2294A>G (p.Asn765Ser)
c.*1411A>G (n.*1411A>G)
c.2123A>G (p.Asn708Ser)
n.511A>G
c.989A>G (p.Asn330Ser)
 gnomAD v4
7g.5641242T>GCA366711010RNF216c.2294A>C (p.Asn765Thr)
c.*1411A>C (n.*1411A>C)
c.2123A>C (p.Asn708Thr)
n.511A>C
c.989A>C (p.Asn330Thr)
 dbSNP
7g.5641242T=CA1685037950RNF216c.2294A= (p.Asn765=)
c.*1411A= (n.*1411A=)
c.2123A= (p.Asn708=)
n.511A=
c.989A= (p.Asn330=)
7g.5641243T>ACA366711015RNF216c.2293A>T (p.Asn765Tyr)
c.*1410A>T (n.*1410A>T)
c.2122A>T (p.Asn708Tyr)
n.510A>T
c.988A>T (p.Asn330Tyr)
7g.5641243T>CCA153208330RNF216c.2293A>G (p.Asn765Asp)
c.*1410A>G (n.*1410A>G)
c.2122A>G (p.Asn708Asp)
n.510A>G
c.988A>G (p.Asn330Asp)
 dbSNP gnomAD v3 gnomAD v4
7g.5641243T>GCA366711028RNF216c.2293A>C (p.Asn765His)
c.*1410A>C (n.*1410A>C)
c.2122A>C (p.Asn708His)
n.510A>C
c.988A>C (p.Asn330His)
 gnomAD v4
7g.5641243T=CA1685037952RNF216c.2293A= (p.Asn765=)
c.*1410A= (n.*1410A=)
c.2122A= (p.Asn708=)
n.510A=
c.988A= (p.Asn330=)
7g.5641244A=CA1685037956RNF216c.2292T= (p.Ile764=)
c.*1409T= (n.*1409T=)
c.2121T= (p.Ile707=)
n.509T=
c.987T= (p.Ile329=)
7g.5641244A>CCA366711033RNF216c.2292T>G (p.Ile764Met)
c.*1409T>G (n.*1409T>G)
c.2121T>G (p.Ile707Met)
n.509T>G
c.987T>G (p.Ile329Met)
7g.5641244A>GCA153208334RNF216c.2292T>C (p.Ile764=)
c.*1409T>C (n.*1409T>C)
c.2121T>C (p.Ile707=)
n.509T>C
c.987T>C (p.Ile329=)
 dbSNP gnomAD v2 gnomAD v4
7g.5641244A>TCA453640212RNF216c.2292T>A (p.Ile764=)
c.*1409T>A (n.*1409T>A)
c.2121T>A (p.Ile707=)
n.509T>A
c.987T>A (p.Ile329=)
7g.5641245A=CA1685037958RNF216c.2291T= (p.Ile764=)
c.*1408T= (n.*1408T=)
c.2120T= (p.Ile707=)
n.508T=
c.986T= (p.Ile329=)
7g.5641245A>CCA366711042RNF216c.2291T>G (p.Ile764Ser)
c.*1408T>G (n.*1408T>G)
c.2120T>G (p.Ile707Ser)
n.508T>G
c.986T>G (p.Ile329Ser)
 dbSNP gnomAD v4
7g.5641245A>GCA366711036RNF216c.2291T>C (p.Ile764Thr)
c.*1408T>C (n.*1408T>C)
c.2120T>C (p.Ile707Thr)
n.508T>C
c.986T>C (p.Ile329Thr)
7g.5641245A>TCA366711051RNF216c.2291T>A (p.Ile764Asn)
c.*1408T>A (n.*1408T>A)
c.2120T>A (p.Ile707Asn)
n.508T>A
c.986T>A (p.Ile329Asn)
7g.5641246T>ACA366711057RNF216c.2290A>T (p.Ile764Phe)
c.*1407A>T (n.*1407A>T)
c.2119A>T (p.Ile707Phe)
n.507A>T
c.985A>T (p.Ile329Phe)
7g.5641246T>CCA4147854RNF216c.2290A>G (p.Ile764Val)
c.*1407A>G (n.*1407A>G)
c.2119A>G (p.Ile707Val)
n.507A>G
c.985A>G (p.Ile329Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5641246T>GCA366711061RNF216c.2290A>C (p.Ile764Leu)
c.*1407A>C (n.*1407A>C)
c.2119A>C (p.Ile707Leu)
n.507A>C
c.985A>C (p.Ile329Leu)
7g.5641246T=CA1685037962RNF216c.2290A= (p.Ile764=)
c.*1407A= (n.*1407A=)
c.2119A= (p.Ile707=)
n.507A=
c.985A= (p.Ile329=)
7g.5641247A>CCA453640214RNF216c.2289T>G (p.Ser763=)
c.*1406T>G (n.*1406T>G)
c.2118T>G (p.Ser706=)
n.506T>G
c.984T>G (p.Ser328=)
7g.5641247A>GCA453640216RNF216c.2289T>C (p.Ser763=)
c.*1406T>C (n.*1406T>C)
c.2118T>C (p.Ser706=)
n.506T>C
c.984T>C (p.Ser328=)
7g.5641247A>TCA453640215RNF216c.2289T>A (p.Ser763=)
c.*1406T>A (n.*1406T>A)
c.2118T>A (p.Ser706=)
n.506T>A
c.984T>A (p.Ser328=)
7g.5641248G>ACA4147855RNF216c.2288C>T (p.Ser763Phe)
c.*1405C>T (n.*1405C>T)
c.2117C>T (p.Ser706Phe)
n.505C>T
c.983C>T (p.Ser328Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.5641248G>CCA366711072RNF216c.2288C>G (p.Ser763Cys)
c.*1405C>G (n.*1405C>G)
c.2117C>G (p.Ser706Cys)
n.505C>G
c.983C>G (p.Ser328Cys)
7g.5641248G=CA1685037964RNF216c.2288C= (p.Ser763=)
c.*1405C= (n.*1405C=)
c.2117C= (p.Ser706=)
n.505C=
c.983C= (p.Ser328=)
7g.5641248G>TCA366711075RNF216c.2288C>A (p.Ser763Tyr)
c.*1405C>A (n.*1405C>A)
c.2117C>A (p.Ser706Tyr)
n.505C>A
c.983C>A (p.Ser328Tyr)
7g.5641249A>CCA366711085RNF216c.2287T>G (p.Ser763Ala)
c.*1404T>G (n.*1404T>G)
c.2116T>G (p.Ser706Ala)
n.504T>G
c.982T>G (p.Ser328Ala)
7g.5641249A>GCA366711092RNF216c.2287T>C (p.Ser763Pro)
c.*1404T>C (n.*1404T>C)
c.2116T>C (p.Ser706Pro)
n.504T>C
c.982T>C (p.Ser328Pro)
7g.5641249A>TCA366711095RNF216c.2287T>A (p.Ser763Thr)
c.*1404T>A (n.*1404T>A)
c.2116T>A (p.Ser706Thr)
n.504T>A
c.982T>A (p.Ser328Thr)
7g.5641250A>CCA453640218RNF216c.2286T>G (p.Val762=)
c.*1403T>G (n.*1403T>G)
c.2115T>G (p.Val705=)
n.503T>G
c.981T>G (p.Val327=)
7g.5641250A>GCA453640219RNF216c.2286T>C (p.Val762=)
c.*1403T>C (n.*1403T>C)
c.2115T>C (p.Val705=)
n.503T>C
c.981T>C (p.Val327=)
7g.5641250A>TCA453640220RNF216c.2286T>A (p.Val762=)
c.*1403T>A (n.*1403T>A)
c.2115T>A (p.Val705=)
n.503T>A
c.981T>A (p.Val327=)
7g.5641251A>CCA366711107RNF216c.2285T>G (p.Val762Gly)
c.*1402T>G (n.*1402T>G)
c.2114T>G (p.Val705Gly)
n.502T>G
c.980T>G (p.Val327Gly)
7g.5641251A>GCA366711117RNF216c.2285T>C (p.Val762Ala)
c.*1402T>C (n.*1402T>C)
c.2114T>C (p.Val705Ala)
n.502T>C
c.980T>C (p.Val327Ala)
 gnomAD v4
7g.5641251A>TCA366711121RNF216c.2285T>A (p.Val762Asp)
c.*1402T>A (n.*1402T>A)
c.2114T>A (p.Val705Asp)
n.502T>A
c.980T>A (p.Val327Asp)
7g.5641252C>ACA366711122RNF216c.2284G>T (p.Val762Phe)
c.*1401G>T (n.*1401G>T)
c.2113G>T (p.Val705Phe)
n.501G>T
c.979G>T (p.Val327Phe)
7g.5641252C>GCA366711123RNF216c.2284G>C (p.Val762Leu)
c.*1401G>C (n.*1401G>C)
c.2113G>C (p.Val705Leu)
n.501G>C
c.979G>C (p.Val327Leu)
7g.5641252C>TCA366711127RNF216c.2284G>A (p.Val762Ile)
c.*1401G>A (n.*1401G>A)
c.2113G>A (p.Val705Ile)
n.501G>A
c.979G>A (p.Val327Ile)
 gnomAD v4
7g.5641253T>ACA453640223RNF216c.2283A>T (p.Arg761=)
c.*1400A>T (n.*1400A>T)
c.2112A>T (p.Arg704=)
n.500A>T
c.978A>T (p.Arg326=)
7g.5641253T>CCA453640224RNF216c.2283A>G (p.Arg761=)
c.*1400A>G (n.*1400A>G)
c.2112A>G (p.Arg704=)
n.500A>G
c.978A>G (p.Arg326=)
7g.5641253T>GCA453640225RNF216c.2283A>C (p.Arg761=)
c.*1400A>C (n.*1400A>C)
c.2112A>C (p.Arg704=)
n.500A>C
c.978A>C (p.Arg326=)

Number of alleles fetched