Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169542773_169542775delCA2649036822F5c.2318_2320del (p.Val773del)
c.2333_2335del (p.Val778del)
c.1907_1909del (p.Val636del)
 gnomAD v4
1g.169542772A>CCA343121411F5c.2318T>G (p.Val773Gly)
c.2333T>G (p.Val778Gly)
c.1907T>G (p.Val636Gly)
1g.169542772A>GCA343121412F5c.2318T>C (p.Val773Ala)
c.2333T>C (p.Val778Ala)
c.1907T>C (p.Val636Ala)
 COSMIC
1g.169542772A>TCA343121409F5c.2318T>A (p.Val773Asp)
c.2333T>A (p.Val778Asp)
c.1907T>A (p.Val636Asp)
1g.169542773C>ACA343121414F5c.2317G>T (p.Val773Phe)
c.2332G>T (p.Val778Phe)
c.1906G>T (p.Val636Phe)
1g.169542773C>GCA343121416F5c.2317G>C (p.Val773Leu)
c.2332G>C (p.Val778Leu)
c.1906G>C (p.Val636Leu)
1g.169542773C>TCA343121418F5c.2317G>A (p.Val773Ile)
c.2332G>A (p.Val778Ile)
c.1906G>A (p.Val636Ile)
1g.169542774A>CCA343121419F5c.2316T>G (p.Ile772Met)
c.2331T>G (p.Ile777Met)
c.1905T>G (p.Ile635Met)
1g.169542774A>GCA421931222F5c.2316T>C (p.Ile772=)
c.2331T>C (p.Ile777=)
c.1905T>C (p.Ile635=)
1g.169542774A>TCA421931221F5c.2316T>A (p.Ile772=)
c.2331T>A (p.Ile777=)
c.1905T>A (p.Ile635=)
1g.169542775A=CA1143930826F5c.2315T= (p.Ile772=)
c.2330T= (p.Ile777=)
c.1904T= (p.Ile635=)
1g.169542775A>CCA343121424F5c.2315T>G (p.Ile772Ser)
c.2330T>G (p.Ile777Ser)
c.1904T>G (p.Ile635Ser)
1g.169542775A>GCA1234104F5c.2315T>C (p.Ile772Thr)
c.2330T>C (p.Ile777Thr)
c.1904T>C (p.Ile635Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169542775A>TCA343121421F5c.2315T>A (p.Ile772Asn)
c.2330T>A (p.Ile777Asn)
c.1904T>A (p.Ile635Asn)
1g.169542776T>ACA343121425F5c.2314A>T (p.Ile772Phe)
c.2329A>T (p.Ile777Phe)
c.1903A>T (p.Ile635Phe)
1g.169542776T>CCA343121426F5c.2314A>G (p.Ile772Val)
c.2329A>G (p.Ile777Val)
c.1903A>G (p.Ile635Val)
1g.169542776T>GCA343121428F5c.2314A>C (p.Ile772Leu)
c.2329A>C (p.Ile777Leu)
c.1903A>C (p.Ile635Leu)
1g.169542777T>ACA421931226F5c.2313A>T (p.Ile771=)
c.2328A>T (p.Ile776=)
c.1902A>T (p.Ile634=)
 ClinVar
1g.169542777T>CCA1234105F5c.2313A>G (p.Ile771Met)
c.2328A>G (p.Ile776Met)
c.1902A>G (p.Ile634Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169542777T>GCA421931224F5c.2313A>C (p.Ile771=)
c.2328A>C (p.Ile776=)
c.1902A>C (p.Ile634=)
1g.169542777T=CA1206133410F5c.2313A= (p.Ile771=)
c.2328A= (p.Ile776=)
c.1902A= (p.Ile634=)
1g.169542778A=CA1206133412F5c.2312T= (p.Ile771=)
c.2327T= (p.Ile776=)
c.1901T= (p.Ile634=)
1g.169542778A>CCA343121431F5c.2312T>G (p.Ile771Arg)
c.2327T>G (p.Ile776Arg)
c.1901T>G (p.Ile634Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169542778A>GCA343121432F5c.2312T>C (p.Ile771Thr)
c.2327T>C (p.Ile776Thr)
c.1901T>C (p.Ile634Thr)
 gnomAD v4
1g.169542778A>TCA343121433F5c.2312T>A (p.Ile771Lys)
c.2327T>A (p.Ile776Lys)
c.1901T>A (p.Ile634Lys)
 gnomAD v4
1g.169542779T>ACA343121437F5c.2311A>T (p.Ile771Leu)
c.2326A>T (p.Ile776Leu)
c.1900A>T (p.Ile634Leu)
1g.169542779T>CCA343121438F5c.2311A>G (p.Ile771Val)
c.2326A>G (p.Ile776Val)
c.1900A>G (p.Ile634Val)
1g.169542779T>GCA343121435F5c.2311A>C (p.Ile771Leu)
c.2326A>C (p.Ile776Leu)
c.1900A>C (p.Ile634Leu)
1g.169542780A=CA1206133416F5c.2310T= (p.Asp770=)
c.2325T= (p.Asp775=)
c.1899T= (p.Asp633=)
1g.169542780A>CCA343121441F5c.2310T>G (p.Asp770Glu)
c.2325T>G (p.Asp775Glu)
c.1899T>G (p.Asp633Glu)
1g.169542780A>GCA421931231F5c.2310T>C (p.Asp770=)
c.2325T>C (p.Asp775=)
c.1899T>C (p.Asp633=)
 dbSNP
1g.169542780A>TCA343121439F5c.2310T>A (p.Asp770Glu)
c.2325T>A (p.Asp775Glu)
c.1899T>A (p.Asp633Glu)
1g.169542781T>ACA343121446F5c.2309A>T (p.Asp770Val)
c.2324A>T (p.Asp775Val)
c.1898A>T (p.Asp633Val)
1g.169542781T>CCA343121444F5c.2309A>G (p.Asp770Gly)
c.2324A>G (p.Asp775Gly)
c.1898A>G (p.Asp633Gly)
1g.169542781T>GCA343121445F5c.2309A>C (p.Asp770Ala)
c.2324A>C (p.Asp775Ala)
c.1898A>C (p.Asp633Ala)
1g.169542782C>ACA343121447F5c.2308G>T (p.Asp770Tyr)
c.2323G>T (p.Asp775Tyr)
c.1897G>T (p.Asp633Tyr)
1g.169542782C>GCA343121448F5c.2308G>C (p.Asp770His)
c.2323G>C (p.Asp775His)
c.1897G>C (p.Asp633His)
1g.169542782C>TCA343121449F5c.2308G>A (p.Asp770Asn)
c.2323G>A (p.Asp775Asn)
c.1897G>A (p.Asp633Asn)
1g.169542783T>ACA421931236F5c.2307A>T (p.Thr769=)
c.2322A>T (p.Thr774=)
c.1896A>T (p.Thr632=)
1g.169542783T>CCA421931238F5c.2307A>G (p.Thr769=)
c.2322A>G (p.Thr774=)
c.1896A>G (p.Thr632=)
 dbSNP gnomAD v2 gnomAD v4
1g.169542783T>GCA421931239F5c.2307A>C (p.Thr769=)
c.2322A>C (p.Thr774=)
c.1896A>C (p.Thr632=)
1g.169542783T=CA1206133420F5c.2307A= (p.Thr769=)
c.2322A= (p.Thr774=)
c.1896A= (p.Thr632=)
1g.169542786_169542787delCA2649036831F5c.2306_2307del (p.Thr769ArgfsTer13)
c.2321_2322del (p.Thr774ArgfsTer13)
c.1895_1896del (p.Thr632ArgfsTer13)
 gnomAD v4
1g.169542784G>ACA1234106F5c.2306C>T (p.Thr769Ile)
c.2321C>T (p.Thr774Ile)
c.1895C>T (p.Thr632Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169542784G>CCA343121450F5c.2306C>G (p.Thr769Arg)
c.2321C>G (p.Thr774Arg)
c.1895C>G (p.Thr632Arg)
1g.169542784G=CA1206133422F5c.2306C= (p.Thr769=)
c.2321C= (p.Thr774=)
c.1895C= (p.Thr632=)
1g.169542784G>TCA343121451F5c.2306C>A (p.Thr769Lys)
c.2321C>A (p.Thr774Lys)
c.1895C>A (p.Thr632Lys)
1g.169542785T>ACA343121453F5c.2305A>T (p.Thr769Ser)
c.2320A>T (p.Thr774Ser)
c.1894A>T (p.Thr632Ser)
1g.169542785T>CCA343121455F5c.2305A>G (p.Thr769Ala)
c.2320A>G (p.Thr774Ala)
c.1894A>G (p.Thr632Ala)
 gnomAD v4
1g.169542785T>GCA343121456F5c.2305A>C (p.Thr769Pro)
c.2320A>C (p.Thr774Pro)
c.1894A>C (p.Thr632Pro)
1g.169542786G>ACA421931243F5c.2304C>T (p.Asn768=)
c.2319C>T (p.Asn773=)
c.1893C>T (p.Asn631=)
1g.169542786G>CCA343121459F5c.2304C>G (p.Asn768Lys)
c.2319C>G (p.Asn773Lys)
c.1893C>G (p.Asn631Lys)
1g.169542786G>TCA343121460F5c.2304C>A (p.Asn768Lys)
c.2319C>A (p.Asn773Lys)
c.1893C>A (p.Asn631Lys)
1g.169542787T>ACA343121464F5c.2303A>T (p.Asn768Ile)
c.2318A>T (p.Asn773Ile)
c.1892A>T (p.Asn631Ile)
1g.169542787T>CCA1234107F5c.2303A>G (p.Asn768Ser)
c.2318A>G (p.Asn773Ser)
c.1892A>G (p.Asn631Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169542787T>GCA343121461F5c.2303A>C (p.Asn768Thr)
c.2318A>C (p.Asn773Thr)
c.1892A>C (p.Asn631Thr)
1g.169542787T=CA1206133425F5c.2303A= (p.Asn768=)
c.2318A= (p.Asn773=)
c.1892A= (p.Asn631=)
1g.169542788T>ACA343121466F5c.2302A>T (p.Asn768Tyr)
c.2317A>T (p.Asn773Tyr)
c.1891A>T (p.Asn631Tyr)
1g.169542788T>CCA343121467F5c.2302A>G (p.Asn768Asp)
c.2317A>G (p.Asn773Asp)
c.1891A>G (p.Asn631Asp)
1g.169542788T>GCA343121469F5c.2302A>C (p.Asn768His)
c.2317A>C (p.Asn773His)
c.1891A>C (p.Asn631His)
1g.169542789T>ACA421931250F5c.2301A>T (p.Ser767=)
c.2316A>T (p.Ser772=)
c.1890A>T (p.Ser630=)
 gnomAD v3 gnomAD v4
1g.169542789T>CCA1234108F5c.2301A>G (p.Ser767=)
c.2316A>G (p.Ser772=)
c.1890A>G (p.Ser630=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169542789T>GCA421931255F5c.2301A>C (p.Ser767=)
c.2316A>C (p.Ser772=)
c.1890A>C (p.Ser630=)
 dbSNP
1g.169542789T=CA1139773075F5c.2301A= (p.Ser767=)
c.2316A= (p.Ser772=)
c.1890A= (p.Ser630=)
1g.169542790G>ACA343121472F5c.2300C>T (p.Ser767Leu)
c.2315C>T (p.Ser772Leu)
c.1889C>T (p.Ser630Leu)
 gnomAD v4
1g.169542790G>CCA343121474F5c.2300C>G (p.Ser767Ter)
c.2315C>G (p.Ser772Ter)
c.1889C>G (p.Ser630Ter)
 dbSNP
1g.169542790G=CA1206133436F5c.2300C= (p.Ser767=)
c.2315C= (p.Ser772=)
c.1889C= (p.Ser630=)
1g.169542790G>TCA343121476F5c.2300C>A (p.Ser767Ter)
c.2315C>A (p.Ser772Ter)
c.1889C>A (p.Ser630Ter)
1g.169542791A>CCA343121477F5c.2299T>G (p.Ser767Ala)
c.2314T>G (p.Ser772Ala)
c.1888T>G (p.Ser630Ala)
1g.169542791A>GCA343121479F5c.2299T>C (p.Ser767Pro)
c.2314T>C (p.Ser772Pro)
c.1888T>C (p.Ser630Pro)
1g.169542791A>TCA343121480F5c.2299T>A (p.Ser767Thr)
c.2314T>A (p.Ser772Thr)
c.1888T>A (p.Ser630Thr)
1g.169542792A>CCA421931257F5c.2298T>G (p.Ser766=)
c.2313T>G (p.Ser771=)
c.1887T>G (p.Ser629=)
1g.169542792A>GCA421931260F5c.2298T>C (p.Ser766=)
c.2313T>C (p.Ser771=)
c.1887T>C (p.Ser629=)
1g.169542792A>TCA421931261F5c.2298T>A (p.Ser766=)
c.2313T>A (p.Ser771=)
c.1887T>A (p.Ser629=)
1g.169542793G>ACA343121482F5c.2297C>T (p.Ser766Phe)
c.2312C>T (p.Ser771Phe)
c.1886C>T (p.Ser629Phe)
1g.169542793G>CCA343121483F5c.2297C>G (p.Ser766Cys)
c.2312C>G (p.Ser771Cys)
c.1886C>G (p.Ser629Cys)
1g.169542793G>TCA343121484F5c.2297C>A (p.Ser766Tyr)
c.2312C>A (p.Ser771Tyr)
c.1886C>A (p.Ser629Tyr)
 gnomAD v4
1g.169542794A>CCA343121489F5c.2296T>G (p.Ser766Ala)
c.2311T>G (p.Ser771Ala)
c.1885T>G (p.Ser629Ala)
1g.169542794A>GCA343121487F5c.2296T>C (p.Ser766Pro)
c.2311T>C (p.Ser771Pro)
c.1885T>C (p.Ser629Pro)
1g.169542794A>TCA343121486F5c.2296T>A (p.Ser766Thr)
c.2311T>A (p.Ser771Thr)
c.1885T>A (p.Ser629Thr)
1g.169542795A>CCA421931270F5c.2295T>G (p.Val765=)
c.2310T>G (p.Val770=)
c.1884T>G (p.Val628=)
1g.169542795A>GCA421931269F5c.2295T>C (p.Val765=)
c.2310T>C (p.Val770=)
c.1884T>C (p.Val628=)
1g.169542795A>TCA421931267F5c.2295T>A (p.Val765=)
c.2310T>A (p.Val770=)
c.1884T>A (p.Val628=)
1g.169542796A=CA1206133438F5c.2294T= (p.Val765=)
c.2309T= (p.Val770=)
c.1883T= (p.Val628=)
1g.169542796A>CCA343121491F5c.2294T>G (p.Val765Gly)
c.2309T>G (p.Val770Gly)
c.1883T>G (p.Val628Gly)
1g.169542796A>GCA343121492F5c.2294T>C (p.Val765Ala)
c.2309T>C (p.Val770Ala)
c.1883T>C (p.Val628Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169542796A>TCA343121493F5c.2294T>A (p.Val765Asp)
c.2309T>A (p.Val770Asp)
c.1883T>A (p.Val628Asp)
 dbSNP
1g.169542797C>ACA343121495F5c.2293G>T (p.Val765Phe)
c.2308G>T (p.Val770Phe)
c.1882G>T (p.Val628Phe)
1g.169542797C=CA1206133441F5c.2293G= (p.Val765=)
c.2308G= (p.Val770=)
c.1882G= (p.Val628=)
1g.169542797C>GCA343121497F5c.2293G>C (p.Val765Leu)
c.2308G>C (p.Val770Leu)
c.1882G>C (p.Val628Leu)
1g.169542797C>TCA1234109F5c.2293G>A (p.Val765Ile)
c.2308G>A (p.Val770Ile)
c.1882G>A (p.Val628Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169542798G>ACA1234111F5c.2292C>T (p.Phe764=)
c.2307C>T (p.Phe769=)
c.1881C>T (p.Phe627=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.169542798G>CCA343121499F5c.2292C>G (p.Phe764Leu)
c.2307C>G (p.Phe769Leu)
c.1881C>G (p.Phe627Leu)
1g.169542798G=CA1144948130F5c.2292C= (p.Phe764=)
c.2307C= (p.Phe769=)
c.1881C= (p.Phe627=)
1g.169542798G>TCA1234110F5c.2292C>A (p.Phe764Leu)
c.2307C>A (p.Phe769Leu)
c.1881C>A (p.Phe627Leu)
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.169542799A>CCA343121502F5c.2291T>G (p.Phe764Cys)
c.2306T>G (p.Phe769Cys)
c.1880T>G (p.Phe627Cys)
1g.169542799A>GCA343121503F5c.2291T>C (p.Phe764Ser)
c.2306T>C (p.Phe769Ser)
c.1880T>C (p.Phe627Ser)
1g.169542799A>TCA343121505F5c.2291T>A (p.Phe764Tyr)
c.2306T>A (p.Phe769Tyr)
c.1880T>A (p.Phe627Tyr)
1g.169542800A>CCA343121508F5c.2290T>G (p.Phe764Val)
c.2305T>G (p.Phe769Val)
c.1879T>G (p.Phe627Val)
1g.169542800A>GCA343121507F5c.2290T>C (p.Phe764Leu)
c.2305T>C (p.Phe769Leu)
c.1879T>C (p.Phe627Leu)
1g.169542800A>TCA343121506F5c.2290T>A (p.Phe764Ile)
c.2305T>A (p.Phe769Ile)
c.1879T>A (p.Phe627Ile)
1g.169542801T>ACA343121510F5c.2289A>T (p.Glu763Asp)
c.2304A>T (p.Glu768Asp)
c.1878A>T (p.Glu626Asp)
1g.169542801T>CCA1234112F5c.2289A>G (p.Glu763=)
c.2304A>G (p.Glu768=)
c.1878A>G (p.Glu626=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169542801T>GCA343121513F5c.2289A>C (p.Glu763Asp)
c.2304A>C (p.Glu768Asp)
c.1878A>C (p.Glu626Asp)
1g.169542801T=CA1139773079F5c.2289A= (p.Glu763=)
c.2304A= (p.Glu768=)
c.1878A= (p.Glu626=)
1g.169542802T>ACA343121515F5c.2288A>T (p.Glu763Val)
c.2303A>T (p.Glu768Val)
c.1877A>T (p.Glu626Val)
1g.169542802T>CCA343121516F5c.2288A>G (p.Glu763Gly)
c.2303A>G (p.Glu768Gly)
c.1877A>G (p.Glu626Gly)
1g.169542802T>GCA343121518F5c.2288A>C (p.Glu763Ala)
c.2303A>C (p.Glu768Ala)
c.1877A>C (p.Glu626Ala)
1g.169542803C>ACA343121520F5c.2287G>T (p.Glu763Ter)
c.2302G>T (p.Glu768Ter)
c.1876G>T (p.Glu626Ter)
1g.169542803C>GCA343121521F5c.2287G>C (p.Glu763Gln)
c.2302G>C (p.Glu768Gln)
c.1876G>C (p.Glu626Gln)
1g.169542803C>TCA343121523F5c.2287G>A (p.Glu763Lys)
c.2302G>A (p.Glu768Lys)
c.1876G>A (p.Glu626Lys)
1g.169542804A=CA1148893233F5c.2286T= (p.Thr762=)
c.2301T= (p.Thr767=)
c.1875T= (p.Thr625=)
1g.169542804A>CCA421931288F5c.2286T>G (p.Thr762=)
c.2301T>G (p.Thr767=)
c.1875T>G (p.Thr625=)
1g.169542804A>GCA1234113F5c.2286T>C (p.Thr762=)
c.2301T>C (p.Thr767=)
c.1875T>C (p.Thr625=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169542804A>TCA421931291F5c.2286T>A (p.Thr762=)
c.2301T>A (p.Thr767=)
c.1875T>A (p.Thr625=)
1g.169542805G>ACA343121524F5c.2285C>T (p.Thr762Ile)
c.2300C>T (p.Thr767Ile)
c.1874C>T (p.Thr625Ile)
1g.169542805G>CCA343121525F5c.2285C>G (p.Thr762Ser)
c.2300C>G (p.Thr767Ser)
c.1874C>G (p.Thr625Ser)
1g.169542805G>TCA343121527F5c.2285C>A (p.Thr762Asn)
c.2300C>A (p.Thr767Asn)
c.1874C>A (p.Thr625Asn)
1g.169542806T>ACA343121530F5c.2284A>T (p.Thr762Ser)
c.2299A>T (p.Thr767Ser)
c.1873A>T (p.Thr625Ser)
1g.169542806T>CCA343121532F5c.2284A>G (p.Thr762Ala)
c.2299A>G (p.Thr767Ala)
c.1873A>G (p.Thr625Ala)
1g.169542806T>GCA343121528F5c.2284A>C (p.Thr762Pro)
c.2299A>C (p.Thr767Pro)
c.1873A>C (p.Thr625Pro)
1g.169542807G>ACA421931295F5c.2283C>T (p.Gly761=)
c.2298C>T (p.Gly766=)
c.1872C>T (p.Gly624=)
1g.169542807G>CCA421931298F5c.2283C>G (p.Gly761=)
c.2298C>G (p.Gly766=)
c.1872C>G (p.Gly624=)
1g.169542807G>TCA421931296F5c.2283C>A (p.Gly761=)
c.2298C>A (p.Gly766=)
c.1872C>A (p.Gly624=)
1g.169542808C>ACA343121534F5c.2282G>T (p.Gly761Val)
c.2297G>T (p.Gly766Val)
c.1871G>T (p.Gly624Val)
 gnomAD v4
1g.169542808C>GCA343121537F5c.2282G>C (p.Gly761Ala)
c.2297G>C (p.Gly766Ala)
c.1871G>C (p.Gly624Ala)
1g.169542808C>TCA343121535F5c.2282G>A (p.Gly761Asp)
c.2297G>A (p.Gly766Asp)
c.1871G>A (p.Gly624Asp)
1g.169542809C>ACA343121539F5c.2281G>T (p.Gly761Cys)
c.2296G>T (p.Gly766Cys)
c.1870G>T (p.Gly624Cys)
 COSMIC
1g.169542809C=CA1143399439F5c.2281G= (p.Gly761=)
c.2296G= (p.Gly766=)
c.1870G= (p.Gly624=)
1g.169542809C>GCA343121540F5c.2281G>C (p.Gly761Arg)
c.2296G>C (p.Gly766Arg)
c.1870G>C (p.Gly624Arg)
 gnomAD v4
1g.169542809C>TCA1234114F5c.2281G>A (p.Gly761Ser)
c.2296G>A (p.Gly766Ser)
c.1870G>A (p.Gly624Ser)
 dbSNP ExAC gnomAD v2
1g.169542810A>CCA343121543F5c.2280T>G (p.Asn760Lys)
c.2295T>G (p.Asn765Lys)
c.1869T>G (p.Asn623Lys)
1g.169542810A>GCA421931303F5c.2280T>C (p.Asn760=)
c.2295T>C (p.Asn765=)
c.1869T>C (p.Asn623=)
1g.169542810A>TCA343121544F5c.2280T>A (p.Asn760Lys)
c.2295T>A (p.Asn765Lys)
c.1869T>A (p.Asn623Lys)
1g.169542811T>ACA343121546F5c.2279A>T (p.Asn760Ile)
c.2294A>T (p.Asn765Ile)
c.1868A>T (p.Asn623Ile)
1g.169542811T>CCA343121548F5c.2279A>G (p.Asn760Ser)
c.2294A>G (p.Asn765Ser)
c.1868A>G (p.Asn623Ser)
 dbSNP
1g.169542811T>GCA343121549F5c.2279A>C (p.Asn760Thr)
c.2294A>C (p.Asn765Thr)
c.1868A>C (p.Asn623Thr)
1g.169542811T=CA1206133465F5c.2279A= (p.Asn760=)
c.2294A= (p.Asn765=)
c.1868A= (p.Asn623=)
1g.169542812T>ACA343121551F5c.2278A>T (p.Asn760Tyr)
c.2293A>T (p.Asn765Tyr)
c.1867A>T (p.Asn623Tyr)
1g.169542812T>CCA343121553F5c.2278A>G (p.Asn760Asp)
c.2293A>G (p.Asn765Asp)
c.1867A>G (p.Asn623Asp)
1g.169542812T>GCA343121555F5c.2278A>C (p.Asn760His)
c.2293A>C (p.Asn765His)
c.1867A>C (p.Asn623His)
1g.169542813C>ACA343121558F5c.2277G>T (p.Glu759Asp)
c.2292G>T (p.Glu764Asp)
c.1866G>T (p.Glu622Asp)
 dbSNP
1g.169542813C=CA1206133467F5c.2277G= (p.Glu759=)
c.2292G= (p.Glu764=)
c.1866G= (p.Glu622=)
1g.169542813C>GCA343121557F5c.2277G>C (p.Glu759Asp)
c.2292G>C (p.Glu764Asp)
c.1866G>C (p.Glu622Asp)
1g.169542813C>TCA421931313F5c.2277G>A (p.Glu759=)
c.2292G>A (p.Glu764=)
c.1866G>A (p.Glu622=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169542814T>ACA343121559F5c.2276A>T (p.Glu759Val)
c.2291A>T (p.Glu764Val)
c.1865A>T (p.Glu622Val)
1g.169542814T>CCA343121561F5c.2276A>G (p.Glu759Gly)
c.2291A>G (p.Glu764Gly)
c.1865A>G (p.Glu622Gly)
1g.169542814T>GCA343121562F5c.2276A>C (p.Glu759Ala)
c.2291A>C (p.Glu764Ala)
c.1865A>C (p.Glu622Ala)
1g.169542815C>ACA343121564F5c.2275G>T (p.Glu759Ter)
c.2290G>T (p.Glu764Ter)
c.1864G>T (p.Glu622Ter)
1g.169542815C>GCA343121565F5c.2275G>C (p.Glu759Gln)
c.2290G>C (p.Glu764Gln)
c.1864G>C (p.Glu622Gln)
1g.169542815C>TCA343121567F5c.2275G>A (p.Glu759Lys)
c.2290G>A (p.Glu764Lys)
c.1864G>A (p.Glu622Lys)
 COSMIC
1g.169542816C>ACA421931318F5c.2274G>T (p.Leu758=)
c.2289G>T (p.Leu763=)
c.1863G>T (p.Leu621=)
1g.169542816C>GCA421931319F5c.2274G>C (p.Leu758=)
c.2289G>C (p.Leu763=)
c.1863G>C (p.Leu621=)
1g.169542816C>TCA421931322F5c.2274G>A (p.Leu758=)
c.2289G>A (p.Leu763=)
c.1863G>A (p.Leu621=)
1g.169542817A>CCA343121569F5c.2273T>G (p.Leu758Arg)
c.2288T>G (p.Leu763Arg)
c.1862T>G (p.Leu621Arg)
1g.169542817A>GCA343121570F5c.2273T>C (p.Leu758Pro)
c.2288T>C (p.Leu763Pro)
c.1862T>C (p.Leu621Pro)
1g.169542817A>TCA343121572F5c.2273T>A (p.Leu758Gln)
c.2288T>A (p.Leu763Gln)
c.1862T>A (p.Leu621Gln)
1g.169542819_169542824delCA2649036862F5c.2268_2273del (p.Ala757_Leu758del)
c.2283_2288del (p.Ala762_Leu763del)
c.1857_1862del (p.Ala620_Leu621del)
 gnomAD v4
1g.169542818G>ACA421931329F5c.2272C>T (p.Leu758=)
c.2287C>T (p.Leu763=)
c.1861C>T (p.Leu621=)
1g.169542818G>CCA343121574F5c.2272C>G (p.Leu758Val)
c.2287C>G (p.Leu763Val)
c.1861C>G (p.Leu621Val)
1g.169542818G>TCA343121576F5c.2272C>A (p.Leu758Met)
c.2287C>A (p.Leu763Met)
c.1861C>A (p.Leu621Met)
1g.169542819A=CA1206133468F5c.2271T= (p.Ala757=)
c.2286T= (p.Ala762=)
c.1860T= (p.Ala620=)
1g.169542819A>CCA421931330F5c.2271T>G (p.Ala757=)
c.2286T>G (p.Ala762=)
c.1860T>G (p.Ala620=)
1g.169542819A>GCA421931331F5c.2271T>C (p.Ala757=)
c.2286T>C (p.Ala762=)
c.1860T>C (p.Ala620=)
 dbSNP
1g.169542819A>TCA421931333F5c.2271T>A (p.Ala757=)
c.2286T>A (p.Ala762=)
c.1860T>A (p.Ala620=)
1g.169542820G>ACA343121580F5c.2270C>T (p.Ala757Val)
c.2285C>T (p.Ala762Val)
c.1859C>T (p.Ala620Val)
 gnomAD v4
1g.169542820G>CCA343121582F5c.2270C>G (p.Ala757Gly)
c.2285C>G (p.Ala762Gly)
c.1859C>G (p.Ala620Gly)
1g.169542820G>TCA343121578F5c.2270C>A (p.Ala757Asp)
c.2285C>A (p.Ala762Asp)
c.1859C>A (p.Ala620Asp)
1g.169542821C>ACA343121583F5c.2269G>T (p.Ala757Ser)
c.2284G>T (p.Ala762Ser)
c.1858G>T (p.Ala620Ser)
1g.169542821C>GCA343121585F5c.2269G>C (p.Ala757Pro)
c.2284G>C (p.Ala762Pro)
c.1858G>C (p.Ala620Pro)
 gnomAD v4
1g.169542821C>TCA343121587F5c.2269G>A (p.Ala757Thr)
c.2284G>A (p.Ala762Thr)
c.1858G>A (p.Ala620Thr)
1g.169542822T>ACA421931342F5c.2268A>T (p.Leu756=)
c.2283A>T (p.Leu761=)
c.1857A>T (p.Leu619=)
1g.169542822T>CCA421931343F5c.2268A>G (p.Leu756=)
c.2283A>G (p.Leu761=)
c.1857A>G (p.Leu619=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169542822T>GCA421931344F5c.2268A>C (p.Leu756=)
c.2283A>C (p.Leu761=)
c.1857A>C (p.Leu619=)
1g.169542822T=CA1206133471F5c.2268A= (p.Leu756=)
c.2283A= (p.Leu761=)
c.1857A= (p.Leu619=)
1g.169542823A>CCA343121589F5c.2267T>G (p.Leu756Arg)
c.2282T>G (p.Leu761Arg)
c.1856T>G (p.Leu619Arg)
1g.169542823A>GCA343121590F5c.2267T>C (p.Leu756Pro)
c.2282T>C (p.Leu761Pro)
c.1856T>C (p.Leu619Pro)
1g.169542823A>TCA343121592F5c.2267T>A (p.Leu756Gln)
c.2282T>A (p.Leu761Gln)
c.1856T>A (p.Leu619Gln)
1g.169542824G>ACA421931352F5c.2266C>T (p.Leu756=)
c.2281C>T (p.Leu761=)
c.1855C>T (p.Leu619=)
 gnomAD v4
1g.169542824G>CCA1234115F5c.2266C>G (p.Leu756Val)
c.2281C>G (p.Leu761Val)
c.1855C>G (p.Leu619Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169542824G=CA1206133473F5c.2266C= (p.Leu756=)
c.2281C= (p.Leu761=)
c.1855C= (p.Leu619=)
1g.169542824G>TCA343121594F5c.2266C>A (p.Leu756Ile)
c.2281C>A (p.Leu761Ile)
c.1855C>A (p.Leu619Ile)
1g.169542825G>ACA421931353F5c.2265C>T (p.Ala755=)
c.2280C>T (p.Ala760=)
c.1854C>T (p.Ala618=)
1g.169542825G>CCA421931354F5c.2265C>G (p.Ala755=)
c.2280C>G (p.Ala760=)
c.1854C>G (p.Ala618=)
1g.169542825G>TCA421931356F5c.2265C>A (p.Ala755=)
c.2280C>A (p.Ala760=)
c.1854C>A (p.Ala618=)
1g.169542826G>ACA343121596F5c.2264C>T (p.Ala755Val)
c.2279C>T (p.Ala760Val)
c.1853C>T (p.Ala618Val)
1g.169542826G>CCA343121598F5c.2264C>G (p.Ala755Gly)
c.2279C>G (p.Ala760Gly)
c.1853C>G (p.Ala618Gly)
1g.169542826G>TCA343121599F5c.2264C>A (p.Ala755Asp)
c.2279C>A (p.Ala760Asp)
c.1853C>A (p.Ala618Asp)
1g.169542827C>ACA343121603F5c.2263G>T (p.Ala755Ser)
c.2278G>T (p.Ala760Ser)
c.1852G>T (p.Ala618Ser)
1g.169542827C>GCA343121604F5c.2263G>C (p.Ala755Pro)
c.2278G>C (p.Ala760Pro)
c.1852G>C (p.Ala618Pro)
1g.169542827C>TCA343121601F5c.2263G>A (p.Ala755Thr)
c.2278G>A (p.Ala760Thr)
c.1852G>A (p.Ala618Thr)
1g.169542828A=CA1206133476F5c.2262T= (p.Thr754=)
c.2277T= (p.Thr759=)
c.1851T= (p.Thr617=)
1g.169542828A>CCA421931364F5c.2262T>G (p.Thr754=)
c.2277T>G (p.Thr759=)
c.1851T>G (p.Thr617=)
1g.169542828A>GCA421931366F5c.2262T>C (p.Thr754=)
c.2277T>C (p.Thr759=)
c.1851T>C (p.Thr617=)
 dbSNP
1g.169542828A>TCA421931368F5c.2262T>A (p.Thr754=)
c.2277T>A (p.Thr759=)
c.1851T>A (p.Thr617=)
1g.169542829G>ACA343121606F5c.2261C>T (p.Thr754Ile)
c.2276C>T (p.Thr759Ile)
c.1850C>T (p.Thr617Ile)
1g.169542829G>CCA1234116F5c.2261C>G (p.Thr754Ser)
c.2276C>G (p.Thr759Ser)
c.1850C>G (p.Thr617Ser)
 dbSNP ExAC
1g.169542829G=CA1149127118F5c.2261C= (p.Thr754=)
c.2276C= (p.Thr759=)
c.1850C= (p.Thr617=)
1g.169542829G>TCA343121608F5c.2261C>A (p.Thr754Asn)
c.2276C>A (p.Thr759Asn)
c.1850C>A (p.Thr617Asn)
1g.169542830T>ACA343121610F5c.2260A>T (p.Thr754Ser)
c.2275A>T (p.Thr759Ser)
c.1849A>T (p.Thr617Ser)
1g.169542830T>CCA343121612F5c.2260A>G (p.Thr754Ala)
c.2275A>G (p.Thr759Ala)
c.1849A>G (p.Thr617Ala)
1g.169542830T>GCA343121614F5c.2260A>C (p.Thr754Pro)
c.2275A>C (p.Thr759Pro)
c.1849A>C (p.Thr617Pro)
1g.169542831A>CCA421931375F5c.2259T>G (p.Leu753=)
c.2274T>G (p.Leu758=)
c.1848T>G (p.Leu616=)
1g.169542831A>GCA421931378F5c.2259T>C (p.Leu753=)
c.2274T>C (p.Leu758=)
c.1848T>C (p.Leu616=)
1g.169542831A>TCA421931379F5c.2259T>A (p.Leu753=)
c.2274T>A (p.Leu758=)
c.1848T>A (p.Leu616=)
1g.169542832A>CCA343121618F5c.2258T>G (p.Leu753Arg)
c.2273T>G (p.Leu758Arg)
c.1847T>G (p.Leu616Arg)
1g.169542832A>GCA343121621F5c.2258T>C (p.Leu753Pro)
c.2273T>C (p.Leu758Pro)
c.1847T>C (p.Leu616Pro)
1g.169542832A>TCA343121619F5c.2258T>A (p.Leu753His)
c.2273T>A (p.Leu758His)
c.1847T>A (p.Leu616His)
1g.169542833G>ACA343121623F5c.2257C>T (p.Leu753Phe)
c.2272C>T (p.Leu758Phe)
c.1846C>T (p.Leu616Phe)
1g.169542833G>CCA343121624F5c.2257C>G (p.Leu753Val)
c.2272C>G (p.Leu758Val)
c.1846C>G (p.Leu616Val)
1g.169542833G=CA1142268263F5c.2257C= (p.Leu753=)
c.2272C= (p.Leu758=)
c.1846C= (p.Leu616=)
1g.169542833G>TCA1234117F5c.2257C>A (p.Leu753Ile)
c.2272C>A (p.Leu758Ile)
c.1846C>A (p.Leu616Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169542834A>CCA343121627F5c.2256T>G (p.Asn752Lys)
c.2271T>G (p.Asn757Lys)
c.1845T>G (p.Asn615Lys)
1g.169542834A>GCA421931380F5c.2256T>C (p.Asn752=)
c.2271T>C (p.Asn757=)
c.1845T>C (p.Asn615=)
1g.169542834A>TCA343121628F5c.2256T>A (p.Asn752Lys)
c.2271T>A (p.Asn757Lys)
c.1845T>A (p.Asn615Lys)
1g.169542835T>ACA343121631F5c.2255A>T (p.Asn752Ile)
c.2270A>T (p.Asn757Ile)
c.1844A>T (p.Asn615Ile)
1g.169542835T>CCA343121633F5c.2255A>G (p.Asn752Ser)
c.2270A>G (p.Asn757Ser)
c.1844A>G (p.Asn615Ser)
 gnomAD v4
1g.169542835T>GCA343121629F5c.2255A>C (p.Asn752Thr)
c.2270A>C (p.Asn757Thr)
c.1844A>C (p.Asn615Thr)
1g.169542836T>ACA343121636F5c.2254A>T (p.Asn752Tyr)
c.2269A>T (p.Asn757Tyr)
c.1843A>T (p.Asn615Tyr)
1g.169542836T>CCA343121634F5c.2254A>G (p.Asn752Asp)
c.2269A>G (p.Asn757Asp)
c.1843A>G (p.Asn615Asp)
1g.169542836T>GCA343121638F5c.2254A>C (p.Asn752His)
c.2269A>C (p.Asn757His)
c.1843A>C (p.Asn615His)
1g.169542837G>ACA421931389F5c.2253C>T (p.Phe751=)
c.2268C>T (p.Phe756=)
c.1842C>T (p.Phe614=)
1g.169542837G>CCA343121640F5c.2253C>G (p.Phe751Leu)
c.2268C>G (p.Phe756Leu)
c.1842C>G (p.Phe614Leu)
1g.169542837G>TCA343121641F5c.2253C>A (p.Phe751Leu)
c.2268C>A (p.Phe756Leu)
c.1842C>A (p.Phe614Leu)
1g.169542838A=CA1206133480F5c.2252T= (p.Phe751=)
c.2267T= (p.Phe756=)
c.1841T= (p.Phe614=)
1g.169542838A>CCA343121643F5c.2252T>G (p.Phe751Cys)
c.2267T>G (p.Phe756Cys)
c.1841T>G (p.Phe614Cys)
1g.169542838A>GCA1234118F5c.2252T>C (p.Phe751Ser)
c.2267T>C (p.Phe756Ser)
c.1841T>C (p.Phe614Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169542838A>TCA343121645F5c.2252T>A (p.Phe751Tyr)
c.2267T>A (p.Phe756Tyr)
c.1841T>A (p.Phe614Tyr)
1g.169542839A>CCA343121647F5c.2251T>G (p.Phe751Val)
c.2266T>G (p.Phe756Val)
c.1840T>G (p.Phe614Val)
1g.169542839A>GCA343121649F5c.2251T>C (p.Phe751Leu)
c.2266T>C (p.Phe756Leu)
c.1840T>C (p.Phe614Leu)
 gnomAD v4
1g.169542839A>TCA343121651F5c.2251T>A (p.Phe751Ile)
c.2266T>A (p.Phe756Ile)
c.1840T>A (p.Phe614Ile)
1g.169542839_169542842delinsACTCCA1206133482F5c.2248_2251delinsGAGT (p.Glu750=)
c.2263_2266delinsGAGT (p.Glu755=)
c.1837_1840delinsGAGT (p.Glu613=)
1g.169542840C>ACA343121653F5c.2250G>T (p.Glu750Asp)
c.2265G>T (p.Glu755Asp)
c.1839G>T (p.Glu613Asp)
1g.169542840C>GCA343121654F5c.2250G>C (p.Glu750Asp)
c.2265G>C (p.Glu755Asp)
c.1839G>C (p.Glu613Asp)
1g.169542840C>TCA421931400F5c.2250G>A (p.Glu750=)
c.2265G>A (p.Glu755=)
c.1839G>A (p.Glu613=)
1g.169542840_169542842delCA1234119F5c.2248_2250del (p.Glu750del)
c.2263_2265del (p.Glu755del)
c.1837_1839del (p.Glu613del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.169542840_169542843delinsCTCTCA1206133484F5c.2247_2250delinsAGAG (p.Glu749=)
c.2262_2265delinsAGAG (p.Glu754=)
c.1836_1839delinsAGAG (p.Glu612=)
1g.169542841T>ACA343121664F5c.2249A>T (p.Glu750Val)
c.2264A>T (p.Glu755Val)
c.1838A>T (p.Glu613Val)
1g.169542841T>CCA343121663F5c.2249A>G (p.Glu750Gly)
c.2264A>G (p.Glu755Gly)
c.1838A>G (p.Glu613Gly)
1g.169542841T>GCA343121661F5c.2249A>C (p.Glu750Ala)
c.2264A>C (p.Glu755Ala)
c.1838A>C (p.Glu613Ala)
 gnomAD v4
1g.169542841_169542851delinsTCTTCTTCTTCCA1147931603F5c.2239_2249delinsGAAGAAGAAGA (p.Glu747=)
c.2254_2264delinsGAAGAAGAAGA (p.Glu752=)
c.1828_1838delinsGAAGAAGAAGA (p.Glu610=)
1g.169542849_169542851dupCA32385616F5c.2247_2249dup (p.Glu750_Phe751insGlu)
c.2262_2264dup (p.Glu755_Phe756insGlu)
c.1836_1838dup (p.Glu613_Phe614insGlu)
 dbSNP
1g.169542849_169542851delCA1234120F5c.2247_2249del (p.Glu750del)
c.2262_2264del (p.Glu755del)
c.1836_1838del (p.Glu613del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.169542842C>ACA343121665F5c.2248G>T (p.Glu750Ter)
c.2263G>T (p.Glu755Ter)
c.1837G>T (p.Glu613Ter)
 COSMIC
1g.169542842C>GCA343121666F5c.2248G>C (p.Glu750Gln)
c.2263G>C (p.Glu755Gln)
c.1837G>C (p.Glu613Gln)
 COSMIC
1g.169542842C>TCA343121669F5c.2248G>A (p.Glu750Lys)
c.2263G>A (p.Glu755Lys)
c.1837G>A (p.Glu613Lys)
1g.169542842_169542843delinsCTCA1206133497F5c.2247_2248delinsAG (p.Glu749=)
c.2262_2263delinsAG (p.Glu754=)
c.1836_1837delinsAG (p.Glu612=)
1g.169542843T>ACA343121670F5c.2247A>T (p.Glu749Asp)
c.2262A>T (p.Glu754Asp)
c.1836A>T (p.Glu612Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.169542843T>CCA421931403F5c.2247A>G (p.Glu749=)
c.2262A>G (p.Glu754=)
c.1836A>G (p.Glu612=)
1g.169542843T>GCA1234121F5c.2247A>C (p.Glu749Asp)
c.2262A>C (p.Glu754Asp)
c.1836A>C (p.Glu612Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169542843T=CA1206133502F5c.2247A= (p.Glu749=)
c.2262A= (p.Glu754=)
c.1836A= (p.Glu612=)
1g.169542844delCA890922619F5c.2247del (p.Glu750SerfsTer7)
c.2262del (p.Glu755SerfsTer7)
c.1836del (p.Glu613SerfsTer7)
 dbSNP gnomAD v3 gnomAD v4
1g.169542844T>ACA343121672F5c.2246A>T (p.Glu749Val)
c.2261A>T (p.Glu754Val)
c.1835A>T (p.Glu612Val)
1g.169542844T>CCA343121673F5c.2246A>G (p.Glu749Gly)
c.2261A>G (p.Glu754Gly)
c.1835A>G (p.Glu612Gly)
1g.169542844T>GCA343121675F5c.2246A>C (p.Glu749Ala)
c.2261A>C (p.Glu754Ala)
c.1835A>C (p.Glu612Ala)
1g.169542845C>ACA343121677F5c.2245G>T (p.Glu749Ter)
c.2260G>T (p.Glu754Ter)
c.1834G>T (p.Glu612Ter)
1g.169542845C>GCA343121679F5c.2245G>C (p.Glu749Gln)
c.2260G>C (p.Glu754Gln)
c.1834G>C (p.Glu612Gln)
1g.169542845C>TCA343121683F5c.2245G>A (p.Glu749Lys)
c.2260G>A (p.Glu754Lys)
c.1834G>A (p.Glu612Lys)
 dbSNP
1g.169542846T>ACA343121685F5c.2244A>T (p.Glu748Asp)
c.2259A>T (p.Glu753Asp)
c.1833A>T (p.Glu611Asp)
1g.169542846T>CCA421931408F5c.2244A>G (p.Glu748=)
c.2259A>G (p.Glu753=)
c.1833A>G (p.Glu611=)
1g.169542846T>GCA343121684F5c.2244A>C (p.Glu748Asp)
c.2259A>C (p.Glu753Asp)
c.1833A>C (p.Glu611Asp)
1g.169542847T>ACA343121687F5c.2243A>T (p.Glu748Val)
c.2258A>T (p.Glu753Val)
c.1832A>T (p.Glu611Val)
1g.169542847T>CCA343121691F5c.2243A>G (p.Glu748Gly)
c.2258A>G (p.Glu753Gly)
c.1832A>G (p.Glu611Gly)
1g.169542847T>GCA343121689F5c.2243A>C (p.Glu748Ala)
c.2258A>C (p.Glu753Ala)
c.1832A>C (p.Glu611Ala)
1g.169542848C>ACA343121692F5c.2242G>T (p.Glu748Ter)
c.2257G>T (p.Glu753Ter)
c.1831G>T (p.Glu611Ter)
1g.169542848C>GCA343121694F5c.2242G>C (p.Glu748Gln)
c.2257G>C (p.Glu753Gln)
c.1831G>C (p.Glu611Gln)
1g.169542848C>TCA343121696F5c.2242G>A (p.Glu748Lys)
c.2257G>A (p.Glu753Lys)
c.1831G>A (p.Glu611Lys)
 gnomAD v4
1g.169542849T>ACA343121698F5c.2241A>T (p.Glu747Asp)
c.2256A>T (p.Glu752Asp)
c.1830A>T (p.Glu610Asp)
1g.169542849T>CCA1234122F5c.2241A>G (p.Glu747=)
c.2256A>G (p.Glu752=)
c.1830A>G (p.Glu610=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169542849T>GCA343121701F5c.2241A>C (p.Glu747Asp)
c.2256A>C (p.Glu752Asp)
c.1830A>C (p.Glu610Asp)
1g.169542849T=CA1206133504F5c.2241A= (p.Glu747=)
c.2256A= (p.Glu752=)
c.1830A= (p.Glu610=)
1g.169542850T>ACA343121702F5c.2240A>T (p.Glu747Val)
c.2255A>T (p.Glu752Val)
c.1829A>T (p.Glu610Val)
1g.169542850T>CCA343121703F5c.2240A>G (p.Glu747Gly)
c.2255A>G (p.Glu752Gly)
c.1829A>G (p.Glu610Gly)
1g.169542850T>GCA343121705F5c.2240A>C (p.Glu747Ala)
c.2255A>C (p.Glu752Ala)
c.1829A>C (p.Glu610Ala)
1g.169542851C>ACA343121708F5c.2239G>T (p.Glu747Ter)
c.2254G>T (p.Glu752Ter)
c.1828G>T (p.Glu610Ter)
1g.169542851C>GCA343121709F5c.2239G>C (p.Glu747Gln)
c.2254G>C (p.Glu752Gln)
c.1828G>C (p.Glu610Gln)
1g.169542851C>TCA343121710F5c.2239G>A (p.Glu747Lys)
c.2254G>A (p.Glu752Lys)
c.1828G>A (p.Glu610Lys)
 gnomAD v4
1g.169542852C>ACA343121712F5c.2238G>T (p.Gln746His)
c.2253G>T (p.Gln751His)
c.1827G>T (p.Gln609His)
1g.169542852C=CA1206133506F5c.2238G= (p.Gln746=)
c.2253G= (p.Gln751=)
c.1827G= (p.Gln609=)
1g.169542852C>GCA343121713F5c.2238G>C (p.Gln746His)
c.2253G>C (p.Gln751His)
c.1827G>C (p.Gln609His)
 dbSNP gnomAD v4
1g.169542852C>TCA421931418F5c.2238G>A (p.Gln746=)
c.2253G>A (p.Gln751=)
c.1827G>A (p.Gln609=)
 gnomAD v4
1g.169542853T>ACA343121715F5c.2237A>T (p.Gln746Leu)
c.2252A>T (p.Gln751Leu)
c.1826A>T (p.Gln609Leu)
1g.169542853T>CCA343121716F5c.2237A>G (p.Gln746Arg)
c.2252A>G (p.Gln751Arg)
c.1826A>G (p.Gln609Arg)
1g.169542853T>GCA343121718F5c.2237A>C (p.Gln746Pro)
c.2252A>C (p.Gln751Pro)
c.1826A>C (p.Gln609Pro)
1g.169542854G>ACA343121720F5c.2236C>T (p.Gln746Ter)
c.2251C>T (p.Gln751Ter)
c.1825C>T (p.Gln609Ter)
1g.169542854G>CCA343121722F5c.2236C>G (p.Gln746Glu)
c.2251C>G (p.Gln751Glu)
c.1825C>G (p.Gln609Glu)
1g.169542854G>TCA343121723F5c.2236C>A (p.Gln746Lys)
c.2251C>A (p.Gln751Lys)
c.1825C>A (p.Gln609Lys)
1g.169542855A=CA1139773071F5c.2235T= (p.Asn745=)
c.2250T= (p.Asn750=)
c.1824T= (p.Asn608=)
1g.169542855A>CCA343121725F5c.2235T>G (p.Asn745Lys)
c.2250T>G (p.Asn750Lys)
c.1824T>G (p.Asn608Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.169542855A>GCA1234123F5c.2235T>C (p.Asn745=)
c.2250T>C (p.Asn750=)
c.1824T>C (p.Asn608=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169542855A>TCA343121728F5c.2235T>A (p.Asn745Lys)
c.2250T>A (p.Asn750Lys)
c.1824T>A (p.Asn608Lys)
1g.169542856T>ACA343121729F5c.2234A>T (p.Asn745Ile)
c.2249A>T (p.Asn750Ile)
c.1823A>T (p.Asn608Ile)
1g.169542856T>CCA343121731F5c.2234A>G (p.Asn745Ser)
c.2249A>G (p.Asn750Ser)
c.1823A>G (p.Asn608Ser)
 ClinVar dbSNP
1g.169542856T>GCA343121732F5c.2234A>C (p.Asn745Thr)
c.2249A>C (p.Asn750Thr)
c.1823A>C (p.Asn608Thr)
1g.169542857T>ACA343121738F5c.2233A>T (p.Asn745Tyr)
c.2248A>T (p.Asn750Tyr)
c.1822A>T (p.Asn608Tyr)
1g.169542857T>CCA343121735F5c.2233A>G (p.Asn745Asp)
c.2248A>G (p.Asn750Asp)
c.1822A>G (p.Asn608Asp)
1g.169542857T>GCA343121734F5c.2233A>C (p.Asn745His)
c.2248A>C (p.Asn750His)
c.1822A>C (p.Asn608His)
1g.169542858C>ACA343121739F5c.2232G>T (p.Leu744Phe)
c.2247G>T (p.Leu749Phe)
c.1821G>T (p.Leu607Phe)
1g.169542858C>GCA343121740F5c.2232G>C (p.Leu744Phe)
c.2247G>C (p.Leu749Phe)
c.1821G>C (p.Leu607Phe)
 ClinVar dbSNP
1g.169542858C>TCA421931425F5c.2232G>A (p.Leu744=)
c.2247G>A (p.Leu749=)
c.1821G>A (p.Leu607=)
 COSMIC
1g.169542859A>CCA343121743F5c.2231T>G (p.Leu744Trp)
c.2246T>G (p.Leu749Trp)
c.1820T>G (p.Leu607Trp)
1g.169542859A>GCA343121744F5c.2231T>C (p.Leu744Ser)
c.2246T>C (p.Leu749Ser)
c.1820T>C (p.Leu607Ser)
1g.169542859A>TCA343121746F5c.2231T>A (p.Leu744Ter)
c.2246T>A (p.Leu749Ter)
c.1820T>A (p.Leu607Ter)
1g.169542860A=CA1206133517F5c.2230T= (p.Leu744=)
c.2245T= (p.Leu749=)
c.1819T= (p.Leu607=)
1g.169542860A>CCA343121747F5c.2230T>G (p.Leu744Val)
c.2245T>G (p.Leu749Val)
c.1819T>G (p.Leu607Val)
 gnomAD v4
1g.169542860A>GCA421931427F5c.2230T>C (p.Leu744=)
c.2245T>C (p.Leu749=)
c.1819T>C (p.Leu607=)
 dbSNP gnomAD v4
1g.169542860A>TCA343121749F5c.2230T>A (p.Leu744Met)
c.2245T>A (p.Leu749Met)
c.1819T>A (p.Leu607Met)
1g.169542861T>ACA421931432F5c.2229A>T (p.Ser743=)
c.2244A>T (p.Ser748=)
c.1818A>T (p.Ser606=)
1g.169542861T>CCA1234124F5c.2229A>G (p.Ser743=)
c.2244A>G (p.Ser748=)
c.1818A>G (p.Ser606=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169542861T>GCA421931429F5c.2229A>C (p.Ser743=)
c.2244A>C (p.Ser748=)
c.1818A>C (p.Ser606=)
1g.169542861T=CA1206133519F5c.2229A= (p.Ser743=)
c.2244A= (p.Ser748=)
c.1818A= (p.Ser606=)
1g.169542862G>ACA343121751F5c.2228C>T (p.Ser743Leu)
c.2243C>T (p.Ser748Leu)
c.1817C>T (p.Ser606Leu)
 gnomAD v4
1g.169542862G>CCA343121752F5c.2228C>G (p.Ser743Ter)
c.2243C>G (p.Ser748Ter)
c.1817C>G (p.Ser606Ter)
 gnomAD v4
1g.169542862G=CA1206133522F5c.2228C= (p.Ser743=)
c.2243C= (p.Ser748=)
c.1817C= (p.Ser606=)
1g.169542862G>TCA1234125F5c.2228C>A (p.Ser743Ter)
c.2243C>A (p.Ser748Ter)
c.1817C>A (p.Ser606Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.169542863A>CCA343121755F5c.2227T>G (p.Ser743Ala)
c.2242T>G (p.Ser748Ala)
c.1816T>G (p.Ser606Ala)
1g.169542863A>GCA343121757F5c.2227T>C (p.Ser743Pro)
c.2242T>C (p.Ser748Pro)
c.1816T>C (p.Ser606Pro)
1g.169542863A>TCA343121758F5c.2227T>A (p.Ser743Thr)
c.2242T>A (p.Ser748Thr)
c.1816T>A (p.Ser606Thr)
1g.169542864T>ACA421931435F5c.2226A>T (p.Ser742=)
c.2241A>T (p.Ser747=)
c.1815A>T (p.Ser605=)
1g.169542864T>CCA1234126F5c.2226A>G (p.Ser742=)
c.2241A>G (p.Ser747=)
c.1815A>G (p.Ser605=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169542864T>GCA421931436F5c.2226A>C (p.Ser742=)
c.2241A>C (p.Ser747=)
c.1815A>C (p.Ser605=)
 dbSNP gnomAD v4
1g.169542864T=CA1143380364F5c.2226A= (p.Ser742=)
c.2241A= (p.Ser747=)
c.1815A= (p.Ser605=)
1g.169542865G>ACA343121764F5c.2225C>T (p.Ser742Leu)
c.2240C>T (p.Ser747Leu)
c.1814C>T (p.Ser605Leu)
1g.169542865G>CCA343121761F5c.2225C>G (p.Ser742Ter)
c.2240C>G (p.Ser747Ter)
c.1814C>G (p.Ser605Ter)
1g.169542865G>TCA343121763F5c.2225C>A (p.Ser742Ter)
c.2240C>A (p.Ser747Ter)
c.1814C>A (p.Ser605Ter)
1g.169542866A>CCA343121765F5c.2224T>G (p.Ser742Ala)
c.2239T>G (p.Ser747Ala)
c.1813T>G (p.Ser605Ala)
1g.169542866A>GCA343121767F5c.2224T>C (p.Ser742Pro)
c.2239T>C (p.Ser747Pro)
c.1813T>C (p.Ser605Pro)
1g.169542866A>TCA343121768F5c.2224T>A (p.Ser742Thr)
c.2239T>A (p.Ser747Thr)
c.1813T>A (p.Ser605Thr)
1g.169542867G>ACA421931441F5c.2223C>T (p.Asn741=)
c.2238C>T (p.Asn746=)
c.1812C>T (p.Asn604=)
 dbSNP
1g.169542867G>CCA343121769F5c.2223C>G (p.Asn741Lys)
c.2238C>G (p.Asn746Lys)
c.1812C>G (p.Asn604Lys)
1g.169542867G=CA1143459827F5c.2223C= (p.Asn741=)
c.2238C= (p.Asn746=)
c.1812C= (p.Asn604=)
1g.169542867G>TCA1234127F5c.2223C>A (p.Asn741Lys)
c.2238C>A (p.Asn746Lys)
c.1812C>A (p.Asn604Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169542868T>ACA343121772F5c.2222A>T (p.Asn741Ile)
c.2237A>T (p.Asn746Ile)
c.1811A>T (p.Asn604Ile)
1g.169542868T>CCA1234128F5c.2222A>G (p.Asn741Ser)
c.2237A>G (p.Asn746Ser)
c.1811A>G (p.Asn604Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169542868T>GCA343121774F5c.2222A>C (p.Asn741Thr)
c.2237A>C (p.Asn746Thr)
c.1811A>C (p.Asn604Thr)
1g.169542868T=CA1142025082F5c.2222A= (p.Asn741=)
c.2237A= (p.Asn746=)
c.1811A= (p.Asn604=)
1g.169542869T>ACA343121776F5c.2221A>T (p.Asn741Tyr)
c.2236A>T (p.Asn746Tyr)
c.1810A>T (p.Asn604Tyr)
1g.169542869T>CCA343121778F5c.2221A>G (p.Asn741Asp)
c.2236A>G (p.Asn746Asp)
c.1810A>G (p.Asn604Asp)
1g.169542869T>GCA343121779F5c.2221A>C (p.Asn741His)
c.2236A>C (p.Asn746His)
c.1810A>C (p.Asn604His)
1g.169542870T>ACA421931451F5c.2220A>T (p.Arg740=)
c.2235A>T (p.Arg745=)
c.1809A>T (p.Arg603=)
1g.169542870T>CCA421931452F5c.2220A>G (p.Arg740=)
c.2235A>G (p.Arg745=)
c.1809A>G (p.Arg603=)
1g.169542870T>GCA421931453F5c.2220A>C (p.Arg740=)
c.2235A>C (p.Arg745=)
c.1809A>C (p.Arg603=)
1g.169542871C>ACA343121783F5c.2219G>T (p.Arg740Leu)
c.2234G>T (p.Arg745Leu)
c.1808G>T (p.Arg603Leu)
1g.169542871C=CA1143406950F5c.2219G= (p.Arg740=)
c.2234G= (p.Arg745=)
c.1808G= (p.Arg603=)
1g.169542871C>GCA343121782F5c.2219G>C (p.Arg740Pro)
c.2234G>C (p.Arg745Pro)
c.1808G>C (p.Arg603Pro)
1g.169542871C>TCA1234129F5c.2219G>A (p.Arg740Gln)
c.2234G>A (p.Arg745Gln)
c.1808G>A (p.Arg603Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.169542872G>ACA10608192F5c.2218C>T (p.Arg740Ter)
c.2233C>T (p.Arg745Ter)
c.1807C>T (p.Arg603Ter)
 ClinVar dbSNP gnomAD v4
1g.169542872G>CCA343121787F5c.2218C>G (p.Arg740Gly)
c.2233C>G (p.Arg745Gly)
c.1807C>G (p.Arg603Gly)
1g.169542872G=CA1206133539F5c.2218C= (p.Arg740=)
c.2233C= (p.Arg745=)
c.1807C= (p.Arg603=)
1g.169542872G>TCA1234130F5c.2218C>A (p.Arg740=)
c.2233C>A (p.Arg745=)
c.1807C>A (p.Arg603=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched