Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.132888016G>ACA372234876TGc.2209G>A (p.Ala737Thr)
c.1948G>A (p.Ala650Thr)
8g.132888016G>CCA372234877TGc.2209G>C (p.Ala737Pro)
c.1948G>C (p.Ala650Pro)
8g.132888016G>TCA372234878TGc.2209G>T (p.Ala737Ser)
c.1948G>T (p.Ala650Ser)
 COSMIC
8g.132888017C>ACA372234879TGc.2210C>A (p.Ala737Asp)
c.1949C>A (p.Ala650Asp)
8g.132888017C>GCA372234880TGc.2210C>G (p.Ala737Gly)
c.1949C>G (p.Ala650Gly)
8g.132888017C>TCA372234881TGc.2210C>T (p.Ala737Val)
c.1949C>T (p.Ala650Val)
 gnomAD v4
8g.132888018T>ACA463216363TGc.2211T>A (p.Ala737=)
c.1950T>A (p.Ala650=)
8g.132888018T>CCA463216364TGc.2211T>C (p.Ala737=)
c.1950T>C (p.Ala650=)
 dbSNP gnomAD v2 gnomAD v4
8g.132888018T>GCA463216365TGc.2211T>G (p.Ala737=)
c.1950T>G (p.Ala650=)
8g.132888018T=CA1820989854TGc.2211T= (p.Ala737=)
c.1950T= (p.Ala650=)
8g.132888019T>ACA372234882TGc.2212T>A (p.Phe738Ile)
c.1951T>A (p.Phe651Ile)
8g.132888019T>CCA372234883TGc.2212T>C (p.Phe738Leu)
c.1951T>C (p.Phe651Leu)
 gnomAD v4
8g.132888019T>GCA372234884TGc.2212T>G (p.Phe738Val)
c.1951T>G (p.Phe651Val)
8g.132888020T>ACA372234885TGc.2213T>A (p.Phe738Tyr)
c.1952T>A (p.Phe651Tyr)
8g.132888020T>CCA372234886TGc.2213T>C (p.Phe738Ser)
c.1952T>C (p.Phe651Ser)
8g.132888020T>GCA372234887TGc.2213T>G (p.Phe738Cys)
c.1952T>G (p.Phe651Cys)
8g.132888021C>ACA372234888TGc.2214C>A (p.Phe738Leu)
c.1953C>A (p.Phe651Leu)
8g.132888021C=CA1820989855TGc.2214C= (p.Phe738=)
c.1953C= (p.Phe651=)
8g.132888021C>GCA372234889TGc.2214C>G (p.Phe738Leu)
c.1953C>G (p.Phe651Leu)
8g.132888021C>TCA4883352TGc.2214C>T (p.Phe738=)
c.1953C>T (p.Phe651=)
 dbSNP ExAC gnomAD v2
8g.132888022C>ACA372234890TGc.2215C>A (p.Leu739Ile)
c.1954C>A (p.Leu652Ile)
8g.132888022C=CA1820989856TGc.2215C= (p.Leu739=)
c.1954C= (p.Leu652=)
8g.132888022C>GCA372234891TGc.2215C>G (p.Leu739Val)
c.1954C>G (p.Leu652Val)
 dbSNP
8g.132888022C>TCA372234892TGc.2215C>T (p.Leu739Phe)
c.1954C>T (p.Leu652Phe)
 dbSNP gnomAD v4
8g.132888023T>ACA372234893TGc.2216T>A (p.Leu739His)
c.1955T>A (p.Leu652His)
8g.132888023T>CCA372234894TGc.2216T>C (p.Leu739Pro)
c.1955T>C (p.Leu652Pro)
8g.132888023T>GCA372234895TGc.2216T>G (p.Leu739Arg)
c.1955T>G (p.Leu652Arg)
8g.132888024C>ACA4883353TGc.2217C>A (p.Leu739=)
c.1956C>A (p.Leu652=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132888024C=CA1820989857TGc.2217C= (p.Leu739=)
c.1956C= (p.Leu652=)
8g.132888024C>GCA463216370TGc.2217C>G (p.Leu739=)
c.1956C>G (p.Leu652=)
8g.132888024C>TCA463216369TGc.2217C>T (p.Leu739=)
c.1956C>T (p.Leu652=)
8g.132888025A>CCA463216373TGc.2218A>C (p.Arg740=)
c.1957A>C (p.Arg653=)
8g.132888025A>GCA372234896TGc.2218A>G (p.Arg740Gly)
c.1957A>G (p.Arg653Gly)
8g.132888025A>TCA372234897TGc.2218A>T (p.Arg740Trp)
c.1957A>T (p.Arg653Trp)
8g.132888026G>ACA372234898TGc.2219G>A (p.Arg740Lys)
c.1958G>A (p.Arg653Lys)
8g.132888026G>CCA372234899TGc.2219G>C (p.Arg740Thr)
c.1958G>C (p.Arg653Thr)
8g.132888026G>TCA372234900TGc.2219G>T (p.Arg740Met)
c.1958G>T (p.Arg653Met)
8g.132888027G>ACA463216375TGc.2220G>A (p.Arg740=)
c.1959G>A (p.Arg653=)
 COSMIC
8g.132888027G>CCA372234901TGc.2220G>C (p.Arg740Ser)
c.1959G>C (p.Arg653Ser)
8g.132888027G>TCA372234902TGc.2220G>T (p.Arg740Ser)
c.1959G>T (p.Arg653Ser)
8g.132888028A>CCA372234903TGc.2221A>C (p.Thr741Pro)
c.1960A>C (p.Thr654Pro)
8g.132888028A>GCA372234905TGc.2221A>G (p.Thr741Ala)
c.1960A>G (p.Thr654Ala)
8g.132888028A>TCA372234904TGc.2221A>T (p.Thr741Ser)
c.1960A>T (p.Thr654Ser)
8g.132888029C>ACA372234906TGc.2222C>A (p.Thr741Lys)
c.1961C>A (p.Thr654Lys)
8g.132888029C=CA1820989858TGc.2222C= (p.Thr741=)
c.1961C= (p.Thr654=)
8g.132888029C>GCA372234907TGc.2222C>G (p.Thr741Arg)
c.1961C>G (p.Thr654Arg)
8g.132888029C>TCA4883354TGc.2222C>T (p.Thr741Met)
c.1961C>T (p.Thr654Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132888029dupCA2579253783TGc.2222dup (p.Val742GlyfsTer7)
c.1961dup (p.Val655GlyfsTer7)
8g.132888030G>ACA4883355TGc.2223G>A (p.Thr741=)
c.1962G>A (p.Thr654=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132888030G>CCA463216380TGc.2223G>C (p.Thr741=)
c.1962G>C (p.Thr654=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.132888030G=CA1820989859TGc.2223G= (p.Thr741=)
c.1962G= (p.Thr654=)
8g.132888030G>TCA463216379TGc.2223G>T (p.Thr741=)
c.1962G>T (p.Thr654=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132888031G>ACA4883356TGc.2224G>A (p.Val742Met)
c.1963G>A (p.Val655Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132888031G>CCA372234908TGc.2224G>C (p.Val742Leu)
c.1963G>C (p.Val655Leu)
8g.132888031G=CA1820989860TGc.2224G= (p.Val742=)
c.1963G= (p.Val655=)
8g.132888031G>TCA186284308TGc.2224G>T (p.Val742Leu)
c.1963G>T (p.Val655Leu)
 dbSNP
8g.132888032T>ACA372234909TGc.2225T>A (p.Val742Glu)
c.1964T>A (p.Val655Glu)
8g.132888032T>CCA4883358TGc.2225T>C (p.Val742Ala)
c.1964T>C (p.Val655Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132888032T>GCA4883357TGc.2225T>G (p.Val742Gly)
c.1964T>G (p.Val655Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132888032T=CA1820989861TGc.2225T= (p.Val742=)
c.1964T= (p.Val655=)
8g.132888033G>ACA463216381TGc.2226G>A (p.Val742=)
c.1965G>A (p.Val655=)
 COSMIC
8g.132888033G>CCA463216382TGc.2226G>C (p.Val742=)
c.1965G>C (p.Val655=)
8g.132888033G>TCA463216383TGc.2226G>T (p.Val742=)
c.1965G>T (p.Val655=)
8g.132888034C>ACA372234910TGc.2227C>A (p.Gln743Lys)
c.1966C>A (p.Gln656Lys)
8g.132888034C>GCA372234912TGc.2227C>G (p.Gln743Glu)
c.1966C>G (p.Gln656Glu)
8g.132888034C>TCA372234911TGc.2227C>T (p.Gln743Ter)
c.1966C>T (p.Gln656Ter)
 gnomAD v4
8g.132888035A=CA1820989862TGc.2228A= (p.Gln743=)
c.1967A= (p.Gln656=)
8g.132888035A>CCA372234913TGc.2228A>C (p.Gln743Pro)
c.1967A>C (p.Gln656Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132888035A>GCA372234915TGc.2228A>G (p.Gln743Arg)
c.1967A>G (p.Gln656Arg)
8g.132888035A>TCA372234914TGc.2228A>T (p.Gln743Leu)
c.1967A>T (p.Gln656Leu)
8g.132888036G>ACA463216385TGc.2229G>A (p.Gln743=)
c.1968G>A (p.Gln656=)
8g.132888036G>CCA372234916TGc.2229G>C (p.Gln743His)
c.1968G>C (p.Gln656His)
8g.132888036G>TCA372234917TGc.2229G>T (p.Gln743His)
c.1968G>T (p.Gln656His)
 COSMIC
8g.132888037G>ACA372234918TGc.2230G>A (p.Ala744Thr)
c.1969G>A (p.Ala657Thr)
 gnomAD v4
8g.132888037G>CCA372234919TGc.2230G>C (p.Ala744Pro)
c.1969G>C (p.Ala657Pro)
 gnomAD v4
8g.132888037G>TCA372234920TGc.2230G>T (p.Ala744Ser)
c.1969G>T (p.Ala657Ser)
8g.132888038C>ACA372234921TGc.2231C>A (p.Ala744Asp)
c.1970C>A (p.Ala657Asp)
 gnomAD v4
8g.132888038C=CA1820989863TGc.2231C= (p.Ala744=)
c.1970C= (p.Ala657=)
8g.132888038C>GCA372234922TGc.2231C>G (p.Ala744Gly)
c.1970C>G (p.Ala657Gly)
 gnomAD v4
8g.132888038C>TCA372234923TGc.2231C>T (p.Ala744Val)
c.1970C>T (p.Ala657Val)
 dbSNP gnomAD v4 COSMIC
8g.132888039C>ACA463216386TGc.2232C>A (p.Ala744=)
c.1971C>A (p.Ala657=)
8g.132888039C=CA1820989864TGc.2232C= (p.Ala744=)
c.1971C= (p.Ala657=)
8g.132888039C>GCA463216387TGc.2232C>G (p.Ala744=)
c.1971C>G (p.Ala657=)
8g.132888039C>TCA463216388TGc.2232C>T (p.Ala744=)
c.1971C>T (p.Ala657=)
 dbSNP gnomAD v3 gnomAD v4
8g.132888040C>ACA372234924TGc.2233C>A (p.Leu745Met)
c.1972C>A (p.Leu658Met)
8g.132888040C=CA1820989865TGc.2233C= (p.Leu745=)
c.1972C= (p.Leu658=)
8g.132888040C>GCA372234925TGc.2233C>G (p.Leu745Val)
c.1972C>G (p.Leu658Val)
8g.132888040C>TCA463216390TGc.2233C>T (p.Leu745=)
c.1972C>T (p.Leu658=)
8g.132888041T>ACA372234926TGc.2234T>A (p.Leu745Gln)
c.1973T>A (p.Leu658Gln)
 dbSNP gnomAD v2 gnomAD v4
8g.132888041T>CCA372234927TGc.2234T>C (p.Leu745Pro)
c.1973T>C (p.Leu658Pro)
 gnomAD v4
8g.132888041T>GCA372234928TGc.2234T>G (p.Leu745Arg)
c.1973T>G (p.Leu658Arg)
8g.132888041T=CA1820989866TGc.2234T= (p.Leu745=)
c.1973T= (p.Leu658=)
8g.132888041dupCA463216391TGc.2234dup (p.Leu746AlafsTer3)
c.1973dup (p.Leu659AlafsTer3)
 ClinVar dbSNP gnomAD v4
8g.132888042G>ACA463216392TGc.2235G>A (p.Leu745=)
c.1974G>A (p.Leu658=)
 dbSNP gnomAD v3 gnomAD v4
8g.132888042G>CCA463216393TGc.2235G>C (p.Leu745=)
c.1974G>C (p.Leu658=)
 gnomAD v4
8g.132888042G=CA1820989867TGc.2235G= (p.Leu745=)
c.1974G= (p.Leu658=)
8g.132888042G>TCA463216394TGc.2235G>T (p.Leu745=)
c.1974G>T (p.Leu658=)
 COSMIC
8g.132888043C>ACA372234929TGc.2236C>A (p.Leu746Ile)
c.1975C>A (p.Leu659Ile)
 gnomAD v4
8g.132888043C=CA1820989868TGc.2236C= (p.Leu746=)
c.1975C= (p.Leu659=)
8g.132888043C>GCA372234931TGc.2236C>G (p.Leu746Val)
c.1975C>G (p.Leu659Val)
 dbSNP gnomAD v3 gnomAD v4
8g.132888043C>TCA372234930TGc.2236C>T (p.Leu746Phe)
c.1975C>T (p.Leu659Phe)
8g.132888044T>ACA372234932TGc.2237T>A (p.Leu746His)
c.1976T>A (p.Leu659His)
8g.132888044T>CCA372234933TGc.2237T>C (p.Leu746Pro)
c.1976T>C (p.Leu659Pro)
8g.132888044T>GCA372234934TGc.2237T>G (p.Leu746Arg)
c.1976T>G (p.Leu659Arg)
8g.132888045C>ACA463216397TGc.2238C>A (p.Leu746=)
c.1977C>A (p.Leu659=)
8g.132888045C>GCA463216399TGc.2238C>G (p.Leu746=)
c.1977C>G (p.Leu659=)
8g.132888045C>TCA463216400TGc.2238C>T (p.Leu746=)
c.1977C>T (p.Leu659=)
8g.132888048_132888053delCA2782271368TGc.2241_2246del (p.Asn748_Ser749del)
c.1980_1985del (p.Asn661_Ser662del)
8g.132888046T>ACA4883359TGc.2239T>A (p.Ser747Thr)
c.1978T>A (p.Ser660Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.132888046T>CCA372234935TGc.2239T>C (p.Ser747Pro)
c.1978T>C (p.Ser660Pro)
8g.132888046T>GCA372234936TGc.2239T>G (p.Ser747Ala)
c.1978T>G (p.Ser660Ala)
8g.132888046T=CA1820989869TGc.2239T= (p.Ser747=)
c.1978T= (p.Ser660=)
8g.132888047C>ACA372234937TGc.2240C>A (p.Ser747Tyr)
c.1979C>A (p.Ser660Tyr)
8g.132888047C>GCA372234938TGc.2240C>G (p.Ser747Cys)
c.1979C>G (p.Ser660Cys)
8g.132888047C>TCA372234939TGc.2240C>T (p.Ser747Phe)
c.1979C>T (p.Ser660Phe)
 gnomAD v4
8g.132888048T>ACA463216401TGc.2241T>A (p.Ser747=)
c.1980T>A (p.Ser660=)
8g.132888048T>CCA463216402TGc.2241T>C (p.Ser747=)
c.1980T>C (p.Ser660=)
8g.132888048T>GCA463216403TGc.2241T>G (p.Ser747=)
c.1980T>G (p.Ser660=)
8g.132888048dupCA2579253784TGc.2241dup (p.Asn748Ter)
c.1980dup (p.Asn661Ter)
 gnomAD v4
8g.132888049A>CCA372234942TGc.2242A>C (p.Asn748His)
c.1981A>C (p.Asn661His)
8g.132888049A>GCA372234941TGc.2242A>G (p.Asn748Asp)
c.1981A>G (p.Asn661Asp)
 gnomAD v4
8g.132888049A>TCA372234940TGc.2242A>T (p.Asn748Tyr)
c.1981A>T (p.Asn661Tyr)
8g.132888050A=CA1820989870TGc.2243A= (p.Asn748=)
c.1982A= (p.Asn661=)
8g.132888050A>CCA372234943TGc.2243A>C (p.Asn748Thr)
c.1982A>C (p.Asn661Thr)
8g.132888050A>GCA372234944TGc.2243A>G (p.Asn748Ser)
c.1982A>G (p.Asn661Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132888050A>TCA372234945TGc.2243A>T (p.Asn748Ile)
c.1982A>T (p.Asn661Ile)
8g.132888051C>ACA372234946TGc.2244C>A (p.Asn748Lys)
c.1983C>A (p.Asn661Lys)
8g.132888051C=CA1820989871TGc.2244C= (p.Asn748=)
c.1983C= (p.Asn661=)
8g.132888051C>GCA372234947TGc.2244C>G (p.Asn748Lys)
c.1983C>G (p.Asn661Lys)
8g.132888051C>TCA4883360TGc.2244C>T (p.Asn748=)
c.1983C>T (p.Asn661=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132888052T>ACA4883361TGc.2245T>A (p.Ser749Thr)
c.1984T>A (p.Ser662Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132888052T>CCA372234948TGc.2245T>C (p.Ser749Pro)
c.1984T>C (p.Ser662Pro)
8g.132888052T>GCA372234949TGc.2245T>G (p.Ser749Ala)
c.1984T>G (p.Ser662Ala)
8g.132888052T=CA1820989872TGc.2245T= (p.Ser749=)
c.1984T= (p.Ser662=)
8g.132888052_132888053delinsTCCA1820989873TGc.2245_2246delinsTC (p.Ser749=)
c.1984_1985delinsTC (p.Ser662=)
8g.132888053C>ACA372234950TGc.2246C>A (p.Ser749Tyr)
c.1985C>A (p.Ser662Tyr)
8g.132888053C=CA1820989875TGc.2246C= (p.Ser749=)
c.1985C= (p.Ser662=)
8g.132888053C>GCA186284320TGc.2246C>G (p.Ser749Cys)
c.1985C>G (p.Ser662Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132888053C>TCA4883362TGc.2246C>T (p.Ser749Phe)
c.1985C>T (p.Ser662Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132888054delCA1820989874TGc.2247del (p.Ser750AlafsTer?)
c.1986del (p.Ser663AlafsTer?)
 dbSNP
8g.132888054C>ACA463216405TGc.2247C>A (p.Ser749=)
c.1986C>A (p.Ser662=)
8g.132888054C=CA1820989876TGc.2247C= (p.Ser749=)
c.1986C= (p.Ser662=)
8g.132888054C>GCA463216406TGc.2247C>G (p.Ser749=)
c.1986C>G (p.Ser662=)
 dbSNP
8g.132888054C>TCA186284324TGc.2247C>T (p.Ser749=)
c.1986C>T (p.Ser662=)
 dbSNP
8g.132888055A>CCA372234953TGc.2248A>C (p.Ser750Arg)
c.1987A>C (p.Ser663Arg)
8g.132888055A>GCA372234951TGc.2248A>G (p.Ser750Gly)
c.1987A>G (p.Ser663Gly)
 gnomAD v4
8g.132888055A>TCA372234952TGc.2248A>T (p.Ser750Cys)
c.1987A>T (p.Ser663Cys)
8g.132888056G>ACA372234954TGc.2249G>A (p.Ser750Asn)
c.1988G>A (p.Ser663Asn)
8g.132888056G>CCA372234955TGc.2249G>C (p.Ser750Thr)
c.1988G>C (p.Ser663Thr)
8g.132888056G>TCA372234956TGc.2249G>T (p.Ser750Ile)
c.1988G>T (p.Ser663Ile)
8g.132888057C>ACA372234957TGc.2250C>A (p.Ser750Arg)
c.1989C>A (p.Ser663Arg)
8g.132888057C>GCA372234958TGc.2250C>G (p.Ser750Arg)
c.1989C>G (p.Ser663Arg)
8g.132888057C>TCA463216408TGc.2250C>T (p.Ser750=)
c.1989C>T (p.Ser663=)
8g.132888058A=CA1820989877TGc.2251A= (p.Met751=)
c.1990A= (p.Met664=)
8g.132888058A>CCA186284328TGc.2251A>C (p.Met751Leu)
c.1990A>C (p.Met664Leu)
 dbSNP gnomAD v4
8g.132888058A>GCA4883363TGc.2251A>G (p.Met751Val)
c.1990A>G (p.Met664Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132888058A>TCA372234959TGc.2251A>T (p.Met751Leu)
c.1990A>T (p.Met664Leu)
 dbSNP
8g.132888059T>ACA372234960TGc.2252T>A (p.Met751Lys)
c.1991T>A (p.Met664Lys)
8g.132888059T>CCA372234961TGc.2252T>C (p.Met751Thr)
c.1991T>C (p.Met664Thr)
 dbSNP
8g.132888059T>GCA372234962TGc.2252T>G (p.Met751Arg)
c.1991T>G (p.Met664Arg)
8g.132888059T=CA1820989878TGc.2252T= (p.Met751=)
c.1991T= (p.Met664=)
8g.132888060G>ACA372234965TGc.2253G>A (p.Met751Ile)
c.1992G>A (p.Met664Ile)
 gnomAD v4
8g.132888060G>CCA372234964TGc.2253G>C (p.Met751Ile)
c.1992G>C (p.Met664Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132888060G=CA1820989879TGc.2253G= (p.Met751=)
c.1992G= (p.Met664=)
8g.132888060G>TCA372234963TGc.2253G>T (p.Met751Ile)
c.1992G>T (p.Met664Ile)
8g.132888061C>ACA372234966TGc.2254C>A (p.Leu752Ile)
c.1993C>A (p.Leu665Ile)
 dbSNP gnomAD v2 gnomAD v4
8g.132888061C=CA1820989880TGc.2254C= (p.Leu752=)
c.1993C= (p.Leu665=)
8g.132888061C>GCA372234967TGc.2254C>G (p.Leu752Val)
c.1993C>G (p.Leu665Val)
 gnomAD v4
8g.132888061C>TCA186284331TGc.2254C>T (p.Leu752=)
c.1993C>T (p.Leu665=)
 dbSNP gnomAD v3 gnomAD v4
8g.132888062T>ACA372234968TGc.2255T>A (p.Leu752Gln)
c.1994T>A (p.Leu665Gln)
8g.132888062T>CCA372234969TGc.2255T>C (p.Leu752Pro)
c.1994T>C (p.Leu665Pro)
 gnomAD v4
8g.132888062T>GCA372234970TGc.2255T>G (p.Leu752Arg)
c.1994T>G (p.Leu665Arg)
8g.132888063A>CCA463216410TGc.2256A>C (p.Leu752=)
c.1995A>C (p.Leu665=)
8g.132888063A>GCA463216412TGc.2256A>G (p.Leu752=)
c.1995A>G (p.Leu665=)
8g.132888063A>TCA463216411TGc.2256A>T (p.Leu752=)
c.1995A>T (p.Leu665=)
8g.132888064C>ACA372234971TGc.2257C>A (p.Pro753Thr)
c.1996C>A (p.Pro666Thr)
8g.132888064C=CA1820989881TGc.2257C= (p.Pro753=)
c.1996C= (p.Pro666=)
8g.132888064C>GCA372234972TGc.2257C>G (p.Pro753Ala)
c.1996C>G (p.Pro666Ala)
8g.132888064C>TCA4883364TGc.2257C>T (p.Pro753Ser)
c.1996C>T (p.Pro666Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132888065C>ACA372234973TGc.2258C>A (p.Pro753His)
c.1997C>A (p.Pro666His)
8g.132888065C>GCA372234974TGc.2258C>G (p.Pro753Arg)
c.1997C>G (p.Pro666Arg)
8g.132888065C>TCA372234975TGc.2258C>T (p.Pro753Leu)
c.1997C>T (p.Pro666Leu)
8g.132888066C>ACA463216414TGc.2259C>A (p.Pro753=)
c.1998C>A (p.Pro666=)
8g.132888066C>GCA463216415TGc.2259C>G (p.Pro753=)
c.1998C>G (p.Pro666=)
8g.132888066C>TCA463216416TGc.2259C>T (p.Pro753=)
c.1998C>T (p.Pro666=)
 gnomAD v4
8g.132888067A=CA1820989883TGc.2260A= (p.Thr754=)
c.1999A= (p.Thr667=)
8g.132888067A>CCA372234976TGc.2260A>C (p.Thr754Pro)
c.1999A>C (p.Thr667Pro)
8g.132888067A>GCA372234977TGc.2260A>G (p.Thr754Ala)
c.1999A>G (p.Thr667Ala)
 dbSNP gnomAD v2 gnomAD v4
8g.132888067A>TCA372234979TGc.2260A>T (p.Thr754Ser)
c.1999A>T (p.Thr667Ser)
 gnomAD v4
8g.132888068C>ACA372234984TGc.2261C>A (p.Thr754Asn)
c.2000C>A (p.Thr667Asn)
8g.132888068C>GCA372234983TGc.2261C>G (p.Thr754Ser)
c.2000C>G (p.Thr667Ser)
 gnomAD v4
8g.132888068C>TCA372234981TGc.2261C>T (p.Thr754Ile)
c.2000C>T (p.Thr667Ile)
8g.132888070delCA2688648743TGc.2263del (p.Leu755PhefsTer?)
c.2002del (p.Leu668PhefsTer?)
 gnomAD v4
8g.132888069C>ACA463216417TGc.2262C>A (p.Thr754=)
c.2001C>A (p.Thr667=)
 dbSNP
8g.132888069C=CA1820989884TGc.2262C= (p.Thr754=)
c.2001C= (p.Thr667=)
8g.132888069C>GCA463216418TGc.2262C>G (p.Thr754=)
c.2001C>G (p.Thr667=)
 ClinVar
8g.132888069C>TCA463216419TGc.2262C>T (p.Thr754=)
c.2001C>T (p.Thr667=)
 dbSNP
8g.132888070C>ACA372234986TGc.2263C>A (p.Leu755Ile)
c.2002C>A (p.Leu668Ile)
8g.132888070C>GCA372234987TGc.2263C>G (p.Leu755Val)
c.2002C>G (p.Leu668Val)
8g.132888070C>TCA372234989TGc.2263C>T (p.Leu755Phe)
c.2002C>T (p.Leu668Phe)
8g.132888071T>ACA372234991TGc.2264T>A (p.Leu755His)
c.2003T>A (p.Leu668His)
8g.132888071T>CCA372234993TGc.2264T>C (p.Leu755Pro)
c.2003T>C (p.Leu668Pro)
 gnomAD v4
8g.132888071T>GCA372234995TGc.2264T>G (p.Leu755Arg)
c.2003T>G (p.Leu668Arg)
8g.132888072T>ACA463216423TGc.2265T>A (p.Leu755=)
c.2004T>A (p.Leu668=)
8g.132888072T>CCA463216421TGc.2265T>C (p.Leu755=)
c.2004T>C (p.Leu668=)
 gnomAD v4
8g.132888072T>GCA463216422TGc.2265T>G (p.Leu755=)
c.2004T>G (p.Leu668=)
8g.132888073T>ACA372234996TGc.2266T>A (p.Ser756Thr)
c.2005T>A (p.Ser669Thr)
8g.132888073T>CCA372234997TGc.2266T>C (p.Ser756Pro)
c.2005T>C (p.Ser669Pro)
8g.132888073T>GCA372234999TGc.2266T>G (p.Ser756Ala)
c.2005T>G (p.Ser669Ala)
8g.132888074C>ACA372235001TGc.2267C>A (p.Ser756Tyr)
c.2006C>A (p.Ser669Tyr)
8g.132888074C=CA1820989886TGc.2267C= (p.Ser756=)
c.2006C= (p.Ser669=)
8g.132888074C>GCA372235003TGc.2267C>G (p.Ser756Cys)
c.2006C>G (p.Ser669Cys)
8g.132888074C>TCA4883365TGc.2267C>T (p.Ser756Phe)
c.2006C>T (p.Ser669Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132888075dupCA2688648744TGc.2268dup (p.Asp757ArgfsTer23)
c.2007dup (p.Asp670ArgfsTer23)
 gnomAD v4
8g.132888075C>ACA463216424TGc.2268C>A (p.Ser756=)
c.2007C>A (p.Ser669=)
8g.132888075C=CA1820989888TGc.2268C= (p.Ser756=)
c.2007C= (p.Ser669=)
8g.132888075C>GCA463216426TGc.2268C>G (p.Ser756=)
c.2007C>G (p.Ser669=)
8g.132888075C>TCA4883366TGc.2268C>T (p.Ser756=)
c.2007C>T (p.Ser669=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.132888076G>ACA4883367TGc.2269G>A (p.Asp757Asn)
c.2008G>A (p.Asp670Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132888076G>CCA372235009TGc.2269G>C (p.Asp757His)
c.2008G>C (p.Asp670His)
 dbSNP gnomAD v3 gnomAD v4
8g.132888076G=CA1820989890TGc.2269G= (p.Asp757=)
c.2008G= (p.Asp670=)
8g.132888076G>TCA372235006TGc.2269G>T (p.Asp757Tyr)
c.2008G>T (p.Asp670Tyr)
8g.132888077A>CCA372235011TGc.2270A>C (p.Asp757Ala)
c.2009A>C (p.Asp670Ala)
8g.132888077A>GCA372235012TGc.2270A>G (p.Asp757Gly)
c.2009A>G (p.Asp670Gly)
8g.132888077A>TCA372235013TGc.2270A>T (p.Asp757Val)
c.2009A>T (p.Asp670Val)
8g.132888078C>ACA372235016TGc.2271C>A (p.Asp757Glu)
c.2010C>A (p.Asp670Glu)
8g.132888078C>GCA372235017TGc.2271C>G (p.Asp757Glu)
c.2010C>G (p.Asp670Glu)
8g.132888078C>TCA463216428TGc.2271C>T (p.Asp757=)
c.2010C>T (p.Asp670=)
8g.132888079A=CA1820989892TGc.2272A= (p.Thr758=)
c.2011A= (p.Thr671=)
8g.132888079A>CCA4883368TGc.2272A>C (p.Thr758Pro)
c.2011A>C (p.Thr671Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132888079A>GCA372235020TGc.2272A>G (p.Thr758Ala)
c.2011A>G (p.Thr671Ala)
8g.132888079A>TCA372235022TGc.2272A>T (p.Thr758Ser)
c.2011A>T (p.Thr671Ser)
 gnomAD v4
8g.132888080C>ACA372235024TGc.2273C>A (p.Thr758Asn)
c.2012C>A (p.Thr671Asn)
8g.132888080C>GCA372235026TGc.2273C>G (p.Thr758Ser)
c.2012C>G (p.Thr671Ser)
8g.132888080C>TCA372235028TGc.2273C>T (p.Thr758Ile)
c.2012C>T (p.Thr671Ile)
8g.132888081C>ACA463216432TGc.2274C>A (p.Thr758=)
c.2013C>A (p.Thr671=)
8g.132888081C>GCA463216433TGc.2274C>G (p.Thr758=)
c.2013C>G (p.Thr671=)
8g.132888081C>TCA463216434TGc.2274C>T (p.Thr758=)
c.2013C>T (p.Thr671=)
 gnomAD v4
8g.132888082T>ACA372235034TGc.2275T>A (p.Tyr759Asn)
c.2014T>A (p.Tyr672Asn)
8g.132888082T>CCA372235032TGc.2275T>C (p.Tyr759His)
c.2014T>C (p.Tyr672His)
8g.132888082T>GCA372235030TGc.2275T>G (p.Tyr759Asp)
c.2014T>G (p.Tyr672Asp)
8g.132888083A=CA1820989894TGc.2276A= (p.Tyr759=)
c.2015A= (p.Tyr672=)
8g.132888083A>CCA372235036TGc.2276A>C (p.Tyr759Ser)
c.2015A>C (p.Tyr672Ser)
8g.132888083A>GCA4883369TGc.2276A>G (p.Tyr759Cys)
c.2015A>G (p.Tyr672Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132888083A>TCA372235038TGc.2276A>T (p.Tyr759Phe)
c.2015A>T (p.Tyr672Phe)
8g.132888084C>ACA372235040TGc.2277C>A (p.Tyr759Ter)
c.2016C>A (p.Tyr672Ter)
8g.132888084C=CA1820989896TGc.2277C= (p.Tyr759=)
c.2016C= (p.Tyr672=)
8g.132888084C>GCA372235041TGc.2277C>G (p.Tyr759Ter)
c.2016C>G (p.Tyr672Ter)
8g.132888084C>TCA463216439TGc.2277C>T (p.Tyr759=)
c.2016C>T (p.Tyr672=)
 ClinVar dbSNP gnomAD v4
8g.132888085A>CCA372235044TGc.2278A>C (p.Ile760Leu)
c.2017A>C (p.Ile673Leu)
8g.132888085A>GCA372235046TGc.2278A>G (p.Ile760Val)
c.2017A>G (p.Ile673Val)
 gnomAD v4
8g.132888085A>TCA372235048TGc.2278A>T (p.Ile760Phe)
c.2017A>T (p.Ile673Phe)
8g.132888086T>ACA372235049TGc.2279T>A (p.Ile760Asn)
c.2018T>A (p.Ile673Asn)
8g.132888086T>CCA372235050TGc.2279T>C (p.Ile760Thr)
c.2018T>C (p.Ile673Thr)
8g.132888086T>GCA372235052TGc.2279T>G (p.Ile760Ser)
c.2018T>G (p.Ile673Ser)
8g.132888087C>ACA463216440TGc.2280C>A (p.Ile760=)
c.2019C>A (p.Ile673=)
8g.132888087C>GCA372235054TGc.2280C>G (p.Ile760Met)
c.2019C>G (p.Ile673Met)
8g.132888087C>TCA463216441TGc.2280C>T (p.Ile760=)
c.2019C>T (p.Ile673=)
 gnomAD v4
8g.132888088C>ACA372235057TGc.2281C>A (p.Pro761Thr)
c.2020C>A (p.Pro674Thr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.132888088C=CA1820989898TGc.2281C= (p.Pro761=)
c.2020C= (p.Pro674=)
8g.132888088C>GCA372235059TGc.2281C>G (p.Pro761Ala)
c.2020C>G (p.Pro674Ala)
8g.132888088C>TCA4883370TGc.2281C>T (p.Pro761Ser)
c.2020C>T (p.Pro674Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132888089C>ACA372235065TGc.2282C>A (p.Pro761Gln)
c.2021C>A (p.Pro674Gln)
8g.132888089C>GCA372235061TGc.2282C>G (p.Pro761Arg)
c.2021C>G (p.Pro674Arg)
8g.132888089C>TCA372235063TGc.2282C>T (p.Pro761Leu)
c.2021C>T (p.Pro674Leu)
 gnomAD v4
8g.132888090A=CA1820989900TGc.2283A= (p.Pro761=)
c.2022A= (p.Pro674=)
8g.132888090A>CCA4883371TGc.2283A>C (p.Pro761=)
c.2022A>C (p.Pro674=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132888090A>GCA463216444TGc.2283A>G (p.Pro761=)
c.2022A>G (p.Pro674=)
8g.132888090A>TCA463216445TGc.2283A>T (p.Pro761=)
c.2022A>T (p.Pro674=)
8g.132888091C>ACA372235067TGc.2284C>A (p.Gln762Lys)
c.2023C>A (p.Gln675Lys)
8g.132888091C>GCA372235069TGc.2284C>G (p.Gln762Glu)
c.2023C>G (p.Gln675Glu)
8g.132888091C>TCA372235070TGc.2284C>T (p.Gln762Ter)
c.2023C>T (p.Gln675Ter)
8g.132888092A=CA1820989902TGc.2285A= (p.Gln762=)
c.2024A= (p.Gln675=)
8g.132888092A>CCA186284356TGc.2285A>C (p.Gln762Pro)
c.2024A>C (p.Gln675Pro)
 dbSNP
8g.132888092A>GCA372235077TGc.2285A>G (p.Gln762Arg)
c.2024A>G (p.Gln675Arg)
8g.132888092A>TCA372235080TGc.2285A>T (p.Gln762Leu)
c.2024A>T (p.Gln675Leu)
8g.132888093delCA2739268991TGc.2286del (p.Gln762HisfsTer?)
c.2025del (p.Gln675HisfsTer?)
 ClinVar
8g.132888093G>ACA463216451TGc.2286G>A (p.Gln762=)
c.2025G>A (p.Gln675=)
 gnomAD v4
8g.132888093G>CCA372235082TGc.2286G>C (p.Gln762His)
c.2025G>C (p.Gln675His)
8g.132888093G>TCA372235084TGc.2286G>T (p.Gln762His)
c.2025G>T (p.Gln675His)
 gnomAD v4
8g.132888094T>ACA372235090TGc.2287T>A (p.Cys763Ser)
c.2026T>A (p.Cys676Ser)
8g.132888094T>CCA372235088TGc.2287T>C (p.Cys763Arg)
c.2026T>C (p.Cys676Arg)
8g.132888094T>GCA372235086TGc.2287T>G (p.Cys763Gly)
c.2026T>G (p.Cys676Gly)
8g.132888095G>ACA372235092TGc.2288G>A (p.Cys763Tyr)
c.2027G>A (p.Cys676Tyr)
8g.132888095G>CCA372235094TGc.2288G>C (p.Cys763Ser)
c.2027G>C (p.Cys676Ser)
8g.132888095G>TCA372235096TGc.2288G>T (p.Cys763Phe)
c.2027G>T (p.Cys676Phe)
8g.132888096C>ACA372235098TGc.2289C>A (p.Cys763Ter)
c.2028C>A (p.Cys676Ter)
8g.132888096C=CA1820989904TGc.2289C= (p.Cys763=)
c.2028C= (p.Cys676=)
8g.132888096C>GCA372235100TGc.2289C>G (p.Cys763Trp)
c.2028C>G (p.Cys676Trp)
8g.132888096C>TCA463216454TGc.2289C>T (p.Cys763=)
c.2028C>T (p.Cys676=)
 ClinVar dbSNP gnomAD v4
8g.132888097A>CCA372235102TGc.2290A>C (p.Ser764Arg)
c.2029A>C (p.Ser677Arg)
 gnomAD v4
8g.132888097A>GCA372235103TGc.2290A>G (p.Ser764Gly)
c.2029A>G (p.Ser677Gly)
 gnomAD v4
8g.132888097A>TCA372235105TGc.2290A>T (p.Ser764Cys)
c.2029A>T (p.Ser677Cys)
8g.132888098G>ACA372235107TGc.2291G>A (p.Ser764Asn)
c.2030G>A (p.Ser677Asn)
8g.132888098G>CCA372235108TGc.2291G>C (p.Ser764Thr)
c.2030G>C (p.Ser677Thr)
8g.132888098G>TCA372235109TGc.2291G>T (p.Ser764Ile)
c.2030G>T (p.Ser677Ile)
8g.132888099C>ACA372235112TGc.2292C>A (p.Ser764Arg)
c.2031C>A (p.Ser677Arg)
8g.132888099C>GCA372235114TGc.2292C>G (p.Ser764Arg)
c.2031C>G (p.Ser677Arg)
8g.132888099C>TCA463216461TGc.2292C>T (p.Ser764=)
c.2031C>T (p.Ser677=)
8g.132888100A=CA1820989906TGc.2293A= (p.Thr765=)
c.2032A= (p.Thr678=)
8g.132888100A>CCA372235118TGc.2293A>C (p.Thr765Pro)
c.2032A>C (p.Thr678Pro)
 dbSNP gnomAD v3 gnomAD v4
8g.132888100A>GCA372235119TGc.2293A>G (p.Thr765Ala)
c.2032A>G (p.Thr678Ala)
8g.132888100A>TCA372235116TGc.2293A>T (p.Thr765Ser)
c.2032A>T (p.Thr678Ser)
8g.132888101C>ACA372235121TGc.2294C>A (p.Thr765Asn)
c.2033C>A (p.Thr678Asn)
8g.132888101C=CA1820989908TGc.2294C= (p.Thr765=)
c.2033C= (p.Thr678=)
8g.132888101C>GCA372235124TGc.2294C>G (p.Thr765Ser)
c.2033C>G (p.Thr678Ser)
8g.132888101C>TCA372235125TGc.2294C>T (p.Thr765Ile)
c.2033C>T (p.Thr678Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132888102C>ACA4883373TGc.2295C>A (p.Thr765=)
c.2034C>A (p.Thr678=)
 dbSNP ExAC gnomAD v2
8g.132888102C=CA1820989910TGc.2295C= (p.Thr765=)
c.2034C= (p.Thr678=)
8g.132888102C>GCA463216467TGc.2295C>G (p.Thr765=)
c.2034C>G (p.Thr678=)
8g.132888102C>TCA4883372TGc.2295C>T (p.Thr765=)
c.2034C>T (p.Thr678=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132888103G>ACA372235131TGc.2296G>A (p.Asp766Asn)
c.2035G>A (p.Asp679Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.132888103G>CCA372235132TGc.2296G>C (p.Asp766His)
c.2035G>C (p.Asp679His)
8g.132888103G=CA1820989913TGc.2296G= (p.Asp766=)
c.2035G= (p.Asp679=)
8g.132888103G>TCA372235134TGc.2296G>T (p.Asp766Tyr)
c.2035G>T (p.Asp679Tyr)
 dbSNP
8g.132888104A=CA1820989915TGc.2297A= (p.Asp766=)
c.2036A= (p.Asp679=)
8g.132888104A>CCA372235136TGc.2297A>C (p.Asp766Ala)
c.2036A>C (p.Asp679Ala)
8g.132888104A>GCA4883374TGc.2297A>G (p.Asp766Gly)
c.2036A>G (p.Asp679Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132888104A>TCA372235138TGc.2297A>T (p.Asp766Val)
c.2036A>T (p.Asp679Val)
8g.132888105T>ACA372235140TGc.2298T>A (p.Asp766Glu)
c.2037T>A (p.Asp679Glu)
 dbSNP gnomAD v3 gnomAD v4
8g.132888105T>CCA463216472TGc.2298T>C (p.Asp766=)
c.2037T>C (p.Asp679=)
 dbSNP gnomAD v4
8g.132888105T>GCA372235142TGc.2298T>G (p.Asp766Glu)
c.2037T>G (p.Asp679Glu)
8g.132888105T=CA1820989917TGc.2298T= (p.Asp766=)
c.2037T= (p.Asp679=)
8g.132888106G>ACA4883375TGc.2299G>A (p.Gly767Arg)
c.2038G>A (p.Gly680Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132888106G>CCA372235146TGc.2299G>C (p.Gly767Arg)
c.2038G>C (p.Gly680Arg)
 dbSNP gnomAD v3 gnomAD v4
8g.132888106G=CA1820989918TGc.2299G= (p.Gly767=)
c.2038G= (p.Gly680=)
8g.132888106G>TCA372235144TGc.2299G>T (p.Gly767Trp)
c.2038G>T (p.Gly680Trp)
 dbSNP
8g.132888107G>ACA372235147TGc.2300G>A (p.Gly767Glu)
c.2039G>A (p.Gly680Glu)
 gnomAD v4
8g.132888107G>CCA372235149TGc.2300G>C (p.Gly767Ala)
c.2039G>C (p.Gly680Ala)
8g.132888107G>TCA372235151TGc.2300G>T (p.Gly767Val)
c.2039G>T (p.Gly680Val)
8g.132888108G>ACA463216478TGc.2301G>A (p.Gly767=)
c.2040G>A (p.Gly680=)
8g.132888108G>CCA463216481TGc.2301G>C (p.Gly767=)
c.2040G>C (p.Gly680=)
8g.132888108G>TCA463216479TGc.2301G>T (p.Gly767=)
c.2040G>T (p.Gly680=)
8g.132888109C>ACA372235152TGc.2302C>A (p.Gln768Lys)
c.2041C>A (p.Gln681Lys)
8g.132888109C>GCA372235153TGc.2302C>G (p.Gln768Glu)
c.2041C>G (p.Gln681Glu)
8g.132888109C>TCA372235155TGc.2302C>T (p.Gln768Ter)
c.2041C>T (p.Gln681Ter)
8g.132888110A>CCA372235158TGc.2303A>C (p.Gln768Pro)
c.2042A>C (p.Gln681Pro)
8g.132888110A>GCA372235159TGc.2303A>G (p.Gln768Arg)
c.2042A>G (p.Gln681Arg)
8g.132888110A>TCA372235161TGc.2303A>T (p.Gln768Leu)
c.2042A>T (p.Gln681Leu)
8g.132888111G>ACA463216487TGc.2304G>A (p.Gln768=)
c.2043G>A (p.Gln681=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.132888111G>CCA372235163TGc.2304G>C (p.Gln768His)
c.2043G>C (p.Gln681His)
8g.132888111G=CA1820989921TGc.2304G= (p.Gln768=)
c.2043G= (p.Gln681=)
8g.132888111G>TCA372235164TGc.2304G>T (p.Gln768His)
c.2043G>T (p.Gln681His)
8g.132888112T>ACA372235166TGc.2305T>A (p.Trp769Arg)
c.2044T>A (p.Trp682Arg)
8g.132888112T>CCA372235168TGc.2305T>C (p.Trp769Arg)
c.2044T>C (p.Trp682Arg)
8g.132888112T>GCA372235170TGc.2305T>G (p.Trp769Gly)
c.2044T>G (p.Trp682Gly)
8g.132888113G>ACA372235175TGc.2306G>A (p.Trp769Ter)
c.2045G>A (p.Trp682Ter)
8g.132888113G>CCA372235174TGc.2306G>C (p.Trp769Ser)
c.2045G>C (p.Trp682Ser)
8g.132888113G>TCA372235172TGc.2306G>T (p.Trp769Leu)
c.2045G>T (p.Trp682Leu)
8g.132888114G>ACA372235178TGc.2307G>A (p.Trp769Ter)
c.2046G>A (p.Trp682Ter)
8g.132888114G>CCA372235176TGc.2307G>C (p.Trp769Cys)
c.2046G>C (p.Trp682Cys)
8g.132888114G>TCA372235180TGc.2307G>T (p.Trp769Cys)
c.2046G>T (p.Trp682Cys)
8g.132888115A>CCA463216492TGc.2308A>C (p.Arg770=)
c.2047A>C (p.Arg683=)
8g.132888115A>GCA372235182TGc.2308A>G (p.Arg770Gly)
c.2047A>G (p.Arg683Gly)
8g.132888115A>TCA372235184TGc.2308A>T (p.Arg770Ter)
c.2047A>T (p.Arg683Ter)
8g.132888116G>ACA372235186TGc.2309G>A (p.Arg770Lys)
c.2048G>A (p.Arg683Lys)
 dbSNP gnomAD v2
8g.132888116G>CCA372235188TGc.2309G>C (p.Arg770Thr)
c.2048G>C (p.Arg683Thr)
8g.132888116G=CA1820989924TGc.2309G= (p.Arg770=)
c.2048G= (p.Arg683=)
8g.132888116G>TCA372235190TGc.2309G>T (p.Arg770Ile)
c.2048G>T (p.Arg683Ile)

Number of alleles fetched