Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.113400106G>ACA115344ANKK1c.2137G>A (p.Glu713Lys)
c.2170G>A (p.Glu724Lys)
c.2140G>A (p.Glu714Lys)
c.1948G>A (p.Glu650Lys)
c.2167G>A (p.Glu723Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113400106G>CCA382647506ANKK1c.2137G>C (p.Glu713Gln)
c.2170G>C (p.Glu724Gln)
c.2140G>C (p.Glu714Gln)
c.1948G>C (p.Glu650Gln)
c.2167G>C (p.Glu723Gln)
gnomAD v4
11g.113400106G=CA2001153602ANKK1c.2137G= (p.Glu713=)
c.2170G= (p.Glu724=)
c.2140G= (p.Glu714=)
c.1948G= (p.Glu650=)
c.2167G= (p.Glu723=)
11g.113400106G>TCA382647508ANKK1c.2137G>T (p.Glu713Ter)
c.2170G>T (p.Glu724Ter)
c.2140G>T (p.Glu714Ter)
c.1948G>T (p.Glu650Ter)
c.2167G>T (p.Glu723Ter)
11g.113400107A>CCA382647510ANKK1c.2138A>C (p.Glu713Ala)
c.2171A>C (p.Glu724Ala)
c.2141A>C (p.Glu714Ala)
c.1949A>C (p.Glu650Ala)
c.2168A>C (p.Glu723Ala)
11g.113400107A>GCA382647512ANKK1c.2138A>G (p.Glu713Gly)
c.2171A>G (p.Glu724Gly)
c.2141A>G (p.Glu714Gly)
c.1949A>G (p.Glu650Gly)
c.2168A>G (p.Glu723Gly)
11g.113400107A>TCA382647514ANKK1c.2138A>T (p.Glu713Val)
c.2171A>T (p.Glu724Val)
c.2141A>T (p.Glu714Val)
c.1949A>T (p.Glu650Val)
c.2168A>T (p.Glu723Val)
gnomAD v3 gnomAD v4
11g.113400108G>ACA6281097ANKK1c.2139G>A (p.Glu713=)
c.2172G>A (p.Glu724=)
c.2142G>A (p.Glu714=)
c.1950G>A (p.Glu650=)
c.2169G>A (p.Glu723=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.113400108G>CCA6281098ANKK1c.2139G>C (p.Glu713Asp)
c.2172G>C (p.Glu724Asp)
c.2142G>C (p.Glu714Asp)
c.1950G>C (p.Glu650Asp)
c.2169G>C (p.Glu723Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113400108G=CA2001153608ANKK1c.2139G= (p.Glu713=)
c.2172G= (p.Glu724=)
c.2142G= (p.Glu714=)
c.1950G= (p.Glu650=)
c.2169G= (p.Glu723=)
11g.113400108G>TCA382647519ANKK1c.2139G>T (p.Glu713Asp)
c.2172G>T (p.Glu724Asp)
c.2142G>T (p.Glu714Asp)
c.1950G>T (p.Glu650Asp)
c.2169G>T (p.Glu723Asp)
11g.113400109G>ACA382647522ANKK1c.2140G>A (p.Ala714Thr)
c.2173G>A (p.Ala725Thr)
c.2143G>A (p.Ala715Thr)
c.1951G>A (p.Ala651Thr)
c.2170G>A (p.Ala724Thr)
11g.113400109G>CCA382647521ANKK1c.2140G>C (p.Ala714Pro)
c.2173G>C (p.Ala725Pro)
c.2143G>C (p.Ala715Pro)
c.1951G>C (p.Ala651Pro)
c.2170G>C (p.Ala724Pro)
11g.113400109G=CA2001153612ANKK1c.2140G= (p.Ala714=)
c.2173G= (p.Ala725=)
c.2143G= (p.Ala715=)
c.1951G= (p.Ala651=)
c.2170G= (p.Ala724=)
11g.113400109G>TCA382647520ANKK1c.2140G>T (p.Ala714Ser)
c.2173G>T (p.Ala725Ser)
c.2143G>T (p.Ala715Ser)
c.1951G>T (p.Ala651Ser)
c.2170G>T (p.Ala724Ser)
dbSNP
11g.113400110C>ACA382647523ANKK1c.2141C>A (p.Ala714Glu)
c.2174C>A (p.Ala725Glu)
c.2144C>A (p.Ala715Glu)
c.1952C>A (p.Ala651Glu)
c.2171C>A (p.Ala724Glu)
11g.113400110C>GCA382647524ANKK1c.2141C>G (p.Ala714Gly)
c.2174C>G (p.Ala725Gly)
c.2144C>G (p.Ala715Gly)
c.1952C>G (p.Ala651Gly)
c.2171C>G (p.Ala724Gly)
11g.113400110C>TCA382647525ANKK1c.2141C>T (p.Ala714Val)
c.2174C>T (p.Ala725Val)
c.2144C>T (p.Ala715Val)
c.1952C>T (p.Ala651Val)
c.2171C>T (p.Ala724Val)
11g.113400111A=CA2001153615ANKK1c.2142A= (p.Ala714=)
c.2175A= (p.Ala725=)
c.2145A= (p.Ala715=)
c.1953A= (p.Ala651=)
c.2172A= (p.Ala724=)
11g.113400111A>CCA476815451ANKK1c.2142A>C (p.Ala714=)
c.2175A>C (p.Ala725=)
c.2145A>C (p.Ala715=)
c.1953A>C (p.Ala651=)
c.2172A>C (p.Ala724=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.113400111A>GCA476815450ANKK1c.2142A>G (p.Ala714=)
c.2175A>G (p.Ala725=)
c.2145A>G (p.Ala715=)
c.1953A>G (p.Ala651=)
c.2172A>G (p.Ala724=)
11g.113400111A>TCA476815449ANKK1c.2142A>T (p.Ala714=)
c.2175A>T (p.Ala725=)
c.2145A>T (p.Ala715=)
c.1953A>T (p.Ala651=)
c.2172A>T (p.Ala724=)
11g.113400112G>ACA382647526ANKK1c.2143G>A (p.Gly715Ser)
c.2176G>A (p.Gly726Ser)
c.2146G>A (p.Gly716Ser)
c.1954G>A (p.Gly652Ser)
c.2173G>A (p.Gly725Ser)
11g.113400112G>CCA382647527ANKK1c.2143G>C (p.Gly715Arg)
c.2176G>C (p.Gly726Arg)
c.2146G>C (p.Gly716Arg)
c.1954G>C (p.Gly652Arg)
c.2173G>C (p.Gly725Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.113400112G=CA2001153621ANKK1c.2143G= (p.Gly715=)
c.2176G= (p.Gly726=)
c.2146G= (p.Gly716=)
c.1954G= (p.Gly652=)
c.2173G= (p.Gly725=)
11g.113400112G>TCA382647528ANKK1c.2143G>T (p.Gly715Cys)
c.2176G>T (p.Gly726Cys)
c.2146G>T (p.Gly716Cys)
c.1954G>T (p.Gly652Cys)
c.2173G>T (p.Gly725Cys)
11g.113400113G>ACA382647529ANKK1c.2144G>A (p.Gly715Asp)
c.2177G>A (p.Gly726Asp)
c.2147G>A (p.Gly716Asp)
c.1955G>A (p.Gly652Asp)
c.2174G>A (p.Gly725Asp)
gnomAD v4
11g.113400113G>CCA382647530ANKK1c.2144G>C (p.Gly715Ala)
c.2177G>C (p.Gly726Ala)
c.2147G>C (p.Gly716Ala)
c.1955G>C (p.Gly652Ala)
c.2174G>C (p.Gly725Ala)
11g.113400113G>TCA382647531ANKK1c.2144G>T (p.Gly715Val)
c.2177G>T (p.Gly726Val)
c.2147G>T (p.Gly716Val)
c.1955G>T (p.Gly652Val)
c.2174G>T (p.Gly725Val)
gnomAD v4
11g.113400114C>ACA476815452ANKK1c.2145C>A (p.Gly715=)
c.2178C>A (p.Gly726=)
c.2148C>A (p.Gly716=)
c.1956C>A (p.Gly652=)
c.2175C>A (p.Gly725=)
gnomAD v4
11g.113400114C=CA2001153624ANKK1c.2145C= (p.Gly715=)
c.2178C= (p.Gly726=)
c.2148C= (p.Gly716=)
c.1956C= (p.Gly652=)
c.2175C= (p.Gly725=)
11g.113400114C>GCA476815453ANKK1c.2145C>G (p.Gly715=)
c.2178C>G (p.Gly726=)
c.2148C>G (p.Gly716=)
c.1956C>G (p.Gly652=)
c.2175C>G (p.Gly725=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.113400114C>TCA6281099ANKK1c.2145C>T (p.Gly715=)
c.2178C>T (p.Gly726=)
c.2148C>T (p.Gly716=)
c.1956C>T (p.Gly652=)
c.2175C>T (p.Gly725=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113400115G>ACA6281100ANKK1c.2146G>A (p.Ala716Thr)
c.2179G>A (p.Ala727Thr)
c.2149G>A (p.Ala717Thr)
c.1957G>A (p.Ala653Thr)
c.2176G>A (p.Ala726Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113400115G>CCA382647532ANKK1c.2146G>C (p.Ala716Pro)
c.2179G>C (p.Ala727Pro)
c.2149G>C (p.Ala717Pro)
c.1957G>C (p.Ala653Pro)
c.2176G>C (p.Ala726Pro)
11g.113400115G=CA2001153629ANKK1c.2146G= (p.Ala716=)
c.2179G= (p.Ala727=)
c.2149G= (p.Ala717=)
c.1957G= (p.Ala653=)
c.2176G= (p.Ala726=)
11g.113400115G>TCA6281101ANKK1c.2146G>T (p.Ala716Ser)
c.2179G>T (p.Ala727Ser)
c.2149G>T (p.Ala717Ser)
c.1957G>T (p.Ala653Ser)
c.2176G>T (p.Ala726Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113400116C>ACA382647533ANKK1c.2147C>A (p.Ala716Asp)
c.2180C>A (p.Ala727Asp)
c.2150C>A (p.Ala717Asp)
c.1958C>A (p.Ala653Asp)
c.2177C>A (p.Ala726Asp)
11g.113400116C=CA2001153633ANKK1c.2147C= (p.Ala716=)
c.2180C= (p.Ala727=)
c.2150C= (p.Ala717=)
c.1958C= (p.Ala653=)
c.2177C= (p.Ala726=)
11g.113400116C>GCA382647534ANKK1c.2147C>G (p.Ala716Gly)
c.2180C>G (p.Ala727Gly)
c.2150C>G (p.Ala717Gly)
c.1958C>G (p.Ala653Gly)
c.2177C>G (p.Ala726Gly)
dbSNP gnomAD v2
11g.113400116C>TCA228616260ANKK1c.2147C>T (p.Ala716Val)
c.2180C>T (p.Ala727Val)
c.2150C>T (p.Ala717Val)
c.1958C>T (p.Ala653Val)
c.2177C>T (p.Ala726Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.113400117C>ACA476815454ANKK1c.2148C>A (p.Ala716=)
c.2181C>A (p.Ala727=)
c.2151C>A (p.Ala717=)
c.1959C>A (p.Ala653=)
c.2178C>A (p.Ala726=)
11g.113400117C=CA2001153636ANKK1c.2148C= (p.Ala716=)
c.2181C= (p.Ala727=)
c.2151C= (p.Ala717=)
c.1959C= (p.Ala653=)
c.2178C= (p.Ala726=)
11g.113400117C>GCA476815455ANKK1c.2148C>G (p.Ala716=)
c.2181C>G (p.Ala727=)
c.2151C>G (p.Ala717=)
c.1959C>G (p.Ala653=)
c.2178C>G (p.Ala726=)
11g.113400117C>TCA228616278ANKK1c.2148C>T (p.Ala716=)
c.2181C>T (p.Ala727=)
c.2151C>T (p.Ala717=)
c.1959C>T (p.Ala653=)
c.2178C>T (p.Ala726=)
dbSNP gnomAD v3 gnomAD v4
11g.113400118C>ACA382647535ANKK1c.2149C>A (p.Gln717Lys)
c.2182C>A (p.Gln728Lys)
c.2152C>A (p.Gln718Lys)
c.1960C>A (p.Gln654Lys)
c.2179C>A (p.Gln727Lys)
11g.113400118C>GCA382647537ANKK1c.2149C>G (p.Gln717Glu)
c.2182C>G (p.Gln728Glu)
c.2152C>G (p.Gln718Glu)
c.1960C>G (p.Gln654Glu)
c.2179C>G (p.Gln727Glu)
11g.113400118C>TCA382647536ANKK1c.2149C>T (p.Gln717Ter)
c.2182C>T (p.Gln728Ter)
c.2152C>T (p.Gln718Ter)
c.1960C>T (p.Gln654Ter)
c.2179C>T (p.Gln727Ter)
gnomAD v4
11g.113400119A>CCA382647538ANKK1c.2150A>C (p.Gln717Pro)
c.2183A>C (p.Gln728Pro)
c.2153A>C (p.Gln718Pro)
c.1961A>C (p.Gln654Pro)
c.2180A>C (p.Gln727Pro)
11g.113400119A>GCA382647539ANKK1c.2150A>G (p.Gln717Arg)
c.2183A>G (p.Gln728Arg)
c.2153A>G (p.Gln718Arg)
c.1961A>G (p.Gln654Arg)
c.2180A>G (p.Gln727Arg)
gnomAD v4

Number of alleles fetched