Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.113400106G>A | CA115344 | ANKK1 | c.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 |
11 | g.113400106G>C | CA382647506 | ANKK1 | c.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 |
11 | g.113400106G= | CA2001153602 | ANKK1 | c.2137G= (p.Glu713=) c.2170G= (p.Glu724=) c.2140G= (p.Glu714=) c.1948G= (p.Glu650=) c.2167G= (p.Glu723=) | |
11 | g.113400106G>T | CA382647508 | ANKK1 | c.2137G>T (p.Glu713Ter) c.2170G>T (p.Glu724Ter) c.2140G>T (p.Glu714Ter) c.1948G>T (p.Glu650Ter) c.2167G>T (p.Glu723Ter) | |
11 | g.113400107A>C | CA382647510 | ANKK1 | c.2138A>C (p.Glu713Ala) c.2171A>C (p.Glu724Ala) c.2141A>C (p.Glu714Ala) c.1949A>C (p.Glu650Ala) c.2168A>C (p.Glu723Ala) | |
11 | g.113400107A>G | CA382647512 | ANKK1 | c.2138A>G (p.Glu713Gly) c.2171A>G (p.Glu724Gly) c.2141A>G (p.Glu714Gly) c.1949A>G (p.Glu650Gly) c.2168A>G (p.Glu723Gly) | |
11 | g.113400107A>T | CA382647514 | ANKK1 | c.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 |
11 | g.113400108G>A | CA6281097 | ANKK1 | c.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 |
11 | g.113400108G>C | CA6281098 | ANKK1 | c.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 |
11 | g.113400108G= | CA2001153608 | ANKK1 | c.2139G= (p.Glu713=) c.2172G= (p.Glu724=) c.2142G= (p.Glu714=) c.1950G= (p.Glu650=) c.2169G= (p.Glu723=) | |
11 | g.113400108G>T | CA382647519 | ANKK1 | c.2139G>T (p.Glu713Asp) c.2172G>T (p.Glu724Asp) c.2142G>T (p.Glu714Asp) c.1950G>T (p.Glu650Asp) c.2169G>T (p.Glu723Asp) | |
11 | g.113400109G>A | CA382647522 | ANKK1 | c.2140G>A (p.Ala714Thr) c.2173G>A (p.Ala725Thr) c.2143G>A (p.Ala715Thr) c.1951G>A (p.Ala651Thr) c.2170G>A (p.Ala724Thr) | |
11 | g.113400109G>C | CA382647521 | ANKK1 | c.2140G>C (p.Ala714Pro) c.2173G>C (p.Ala725Pro) c.2143G>C (p.Ala715Pro) c.1951G>C (p.Ala651Pro) c.2170G>C (p.Ala724Pro) | |
11 | g.113400109G= | CA2001153612 | ANKK1 | c.2140G= (p.Ala714=) c.2173G= (p.Ala725=) c.2143G= (p.Ala715=) c.1951G= (p.Ala651=) c.2170G= (p.Ala724=) | |
11 | g.113400109G>T | CA382647520 | ANKK1 | c.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 |
11 | g.113400110C>A | CA382647523 | ANKK1 | c.2141C>A (p.Ala714Glu) c.2174C>A (p.Ala725Glu) c.2144C>A (p.Ala715Glu) c.1952C>A (p.Ala651Glu) c.2171C>A (p.Ala724Glu) | |
11 | g.113400110C>G | CA382647524 | ANKK1 | c.2141C>G (p.Ala714Gly) c.2174C>G (p.Ala725Gly) c.2144C>G (p.Ala715Gly) c.1952C>G (p.Ala651Gly) c.2171C>G (p.Ala724Gly) | |
11 | g.113400110C>T | CA382647525 | ANKK1 | c.2141C>T (p.Ala714Val) c.2174C>T (p.Ala725Val) c.2144C>T (p.Ala715Val) c.1952C>T (p.Ala651Val) c.2171C>T (p.Ala724Val) | |
11 | g.113400111A= | CA2001153615 | ANKK1 | c.2142A= (p.Ala714=) c.2175A= (p.Ala725=) c.2145A= (p.Ala715=) c.1953A= (p.Ala651=) c.2172A= (p.Ala724=) | |
11 | g.113400111A>C | CA476815451 | ANKK1 | c.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 |
11 | g.113400111A>G | CA476815450 | ANKK1 | c.2142A>G (p.Ala714=) c.2175A>G (p.Ala725=) c.2145A>G (p.Ala715=) c.1953A>G (p.Ala651=) c.2172A>G (p.Ala724=) | |
11 | g.113400111A>T | CA476815449 | ANKK1 | c.2142A>T (p.Ala714=) c.2175A>T (p.Ala725=) c.2145A>T (p.Ala715=) c.1953A>T (p.Ala651=) c.2172A>T (p.Ala724=) | |
11 | g.113400112G>A | CA382647526 | ANKK1 | c.2143G>A (p.Gly715Ser) c.2176G>A (p.Gly726Ser) c.2146G>A (p.Gly716Ser) c.1954G>A (p.Gly652Ser) c.2173G>A (p.Gly725Ser) | |
11 | g.113400112G>C | CA382647527 | ANKK1 | c.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 |
11 | g.113400112G= | CA2001153621 | ANKK1 | c.2143G= (p.Gly715=) c.2176G= (p.Gly726=) c.2146G= (p.Gly716=) c.1954G= (p.Gly652=) c.2173G= (p.Gly725=) | |
11 | g.113400112G>T | CA382647528 | ANKK1 | c.2143G>T (p.Gly715Cys) c.2176G>T (p.Gly726Cys) c.2146G>T (p.Gly716Cys) c.1954G>T (p.Gly652Cys) c.2173G>T (p.Gly725Cys) | |
11 | g.113400113G>A | CA382647529 | ANKK1 | c.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 |
11 | g.113400113G>C | CA382647530 | ANKK1 | c.2144G>C (p.Gly715Ala) c.2177G>C (p.Gly726Ala) c.2147G>C (p.Gly716Ala) c.1955G>C (p.Gly652Ala) c.2174G>C (p.Gly725Ala) | |
11 | g.113400113G>T | CA382647531 | ANKK1 | c.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 |
11 | g.113400114C>A | CA476815452 | ANKK1 | c.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 |
11 | g.113400114C= | CA2001153624 | ANKK1 | c.2145C= (p.Gly715=) c.2178C= (p.Gly726=) c.2148C= (p.Gly716=) c.1956C= (p.Gly652=) c.2175C= (p.Gly725=) | |
11 | g.113400114C>G | CA476815453 | ANKK1 | c.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 |
11 | g.113400114C>T | CA6281099 | ANKK1 | c.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 |
11 | g.113400115G>A | CA6281100 | ANKK1 | c.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 |
11 | g.113400115G>C | CA382647532 | ANKK1 | c.2146G>C (p.Ala716Pro) c.2179G>C (p.Ala727Pro) c.2149G>C (p.Ala717Pro) c.1957G>C (p.Ala653Pro) c.2176G>C (p.Ala726Pro) | |
11 | g.113400115G= | CA2001153629 | ANKK1 | c.2146G= (p.Ala716=) c.2179G= (p.Ala727=) c.2149G= (p.Ala717=) c.1957G= (p.Ala653=) c.2176G= (p.Ala726=) | |
11 | g.113400115G>T | CA6281101 | ANKK1 | c.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 |
11 | g.113400116C>A | CA382647533 | ANKK1 | c.2147C>A (p.Ala716Asp) c.2180C>A (p.Ala727Asp) c.2150C>A (p.Ala717Asp) c.1958C>A (p.Ala653Asp) c.2177C>A (p.Ala726Asp) | |
11 | g.113400116C= | CA2001153633 | ANKK1 | c.2147C= (p.Ala716=) c.2180C= (p.Ala727=) c.2150C= (p.Ala717=) c.1958C= (p.Ala653=) c.2177C= (p.Ala726=) | |
11 | g.113400116C>G | CA382647534 | ANKK1 | c.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 |
11 | g.113400116C>T | CA228616260 | ANKK1 | c.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 |
11 | g.113400117C>A | CA476815454 | ANKK1 | c.2148C>A (p.Ala716=) c.2181C>A (p.Ala727=) c.2151C>A (p.Ala717=) c.1959C>A (p.Ala653=) c.2178C>A (p.Ala726=) | |
11 | g.113400117C= | CA2001153636 | ANKK1 | c.2148C= (p.Ala716=) c.2181C= (p.Ala727=) c.2151C= (p.Ala717=) c.1959C= (p.Ala653=) c.2178C= (p.Ala726=) | |
11 | g.113400117C>G | CA476815455 | ANKK1 | c.2148C>G (p.Ala716=) c.2181C>G (p.Ala727=) c.2151C>G (p.Ala717=) c.1959C>G (p.Ala653=) c.2178C>G (p.Ala726=) | |
11 | g.113400117C>T | CA228616278 | ANKK1 | c.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 |
11 | g.113400118C>A | CA382647535 | ANKK1 | c.2149C>A (p.Gln717Lys) c.2182C>A (p.Gln728Lys) c.2152C>A (p.Gln718Lys) c.1960C>A (p.Gln654Lys) c.2179C>A (p.Gln727Lys) | |
11 | g.113400118C>G | CA382647537 | ANKK1 | c.2149C>G (p.Gln717Glu) c.2182C>G (p.Gln728Glu) c.2152C>G (p.Gln718Glu) c.1960C>G (p.Gln654Glu) c.2179C>G (p.Gln727Glu) | |
11 | g.113400118C>T | CA382647536 | ANKK1 | c.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 |
11 | g.113400119A>C | CA382647538 | ANKK1 | c.2150A>C (p.Gln717Pro) c.2183A>C (p.Gln728Pro) c.2153A>C (p.Gln718Pro) c.1961A>C (p.Gln654Pro) c.2180A>C (p.Gln727Pro) | |
11 | g.113400119A>G | CA382647539 | ANKK1 | c.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 |