Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112840128_112843000delCA2582341313APCc.4588_7460del (p.Asp1530Ter)
c.*4540_*7412del (n.*4540_*7412del)
c.4480_7352del (p.Asp1494Ter)
c.4534_7406del (p.Asp1512Ter)
c.230+11156_231-13649del
c.4564_7436del (p.Asp1522Ter)
c.4459_7331del (p.Asp1487Ter)
c.4450_7322del (p.Asp1484Ter)
c.4411_7283del (p.Asp1471Ter)
c.4357_7229del (p.Asp1453Ter)
c.4261_7133del (p.Asp1421Ter)
c.4231_7103del (p.Asp1411Ter)
c.4156_7028del (p.Asp1386Ter)
c.4054_6926del (p.Asp1352Ter)
c.3685_6557del (p.Asp1229Ter)
ClinVar
5g.112842931A=CA1573469539APCc.7391A= (p.Glu2464=)
c.*7343A= (n.*7343A=)
c.7283A= (p.Glu2428=)
c.7337A= (p.Glu2446=)
c.231-13718A=
c.7367A= (p.Glu2456=)
c.7262A= (p.Glu2421=)
c.7253A= (p.Glu2418=)
c.7214A= (p.Glu2405=)
c.7160A= (p.Glu2387=)
c.7064A= (p.Glu2355=)
c.7034A= (p.Glu2345=)
c.6959A= (p.Glu2320=)
c.6857A= (p.Glu2286=)
c.6488A= (p.Glu2163=)
5g.112842931A>CCA16037310APCc.7391A>C (p.Glu2464Ala)
c.*7343A>C (n.*7343A>C)
c.7283A>C (p.Glu2428Ala)
c.7337A>C (p.Glu2446Ala)
c.231-13718A>C
c.7367A>C (p.Glu2456Ala)
c.7262A>C (p.Glu2421Ala)
c.7253A>C (p.Glu2418Ala)
c.7214A>C (p.Glu2405Ala)
c.7160A>C (p.Glu2387Ala)
c.7064A>C (p.Glu2355Ala)
c.7034A>C (p.Glu2345Ala)
c.6959A>C (p.Glu2320Ala)
c.6857A>C (p.Glu2286Ala)
c.6488A>C (p.Glu2163Ala)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842931A>GCA16037311APCc.7391A>G (p.Glu2464Gly)
c.*7343A>G (n.*7343A>G)
c.7283A>G (p.Glu2428Gly)
c.7337A>G (p.Glu2446Gly)
c.231-13718A>G
c.7367A>G (p.Glu2456Gly)
c.7262A>G (p.Glu2421Gly)
c.7253A>G (p.Glu2418Gly)
c.7214A>G (p.Glu2405Gly)
c.7160A>G (p.Glu2387Gly)
c.7064A>G (p.Glu2355Gly)
c.7034A>G (p.Glu2345Gly)
c.6959A>G (p.Glu2320Gly)
c.6857A>G (p.Glu2286Gly)
c.6488A>G (p.Glu2163Gly)
dbSNP
5g.112842931A>TCA16037312APCc.7391A>T (p.Glu2464Val)
c.*7343A>T (n.*7343A>T)
c.7283A>T (p.Glu2428Val)
c.7337A>T (p.Glu2446Val)
c.231-13718A>T
c.7367A>T (p.Glu2456Val)
c.7262A>T (p.Glu2421Val)
c.7253A>T (p.Glu2418Val)
c.7214A>T (p.Glu2405Val)
c.7160A>T (p.Glu2387Val)
c.7064A>T (p.Glu2355Val)
c.7034A>T (p.Glu2345Val)
c.6959A>T (p.Glu2320Val)
c.6857A>T (p.Glu2286Val)
c.6488A>T (p.Glu2163Val)
dbSNP
5g.112842932A=CA1573469550APCc.7392A= (p.Glu2464=)
c.*7344A= (n.*7344A=)
c.7284A= (p.Glu2428=)
c.7338A= (p.Glu2446=)
c.231-13717A=
c.7368A= (p.Glu2456=)
c.7263A= (p.Glu2421=)
c.7254A= (p.Glu2418=)
c.7215A= (p.Glu2405=)
c.7161A= (p.Glu2387=)
c.7065A= (p.Glu2355=)
c.7035A= (p.Glu2345=)
c.6960A= (p.Glu2320=)
c.6858A= (p.Glu2286=)
c.6489A= (p.Glu2163=)
5g.112842932A>CCA16037313APCc.7392A>C (p.Glu2464Asp)
c.*7344A>C (n.*7344A>C)
c.7284A>C (p.Glu2428Asp)
c.7338A>C (p.Glu2446Asp)
c.231-13717A>C
c.7368A>C (p.Glu2456Asp)
c.7263A>C (p.Glu2421Asp)
c.7254A>C (p.Glu2418Asp)
c.7215A>C (p.Glu2405Asp)
c.7161A>C (p.Glu2387Asp)
c.7065A>C (p.Glu2355Asp)
c.7035A>C (p.Glu2345Asp)
c.6960A>C (p.Glu2320Asp)
c.6858A>C (p.Glu2286Asp)
c.6489A>C (p.Glu2163Asp)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112842932A>GCA446210433APCc.7392A>G (p.Glu2464=)
c.*7344A>G (n.*7344A>G)
c.7284A>G (p.Glu2428=)
c.7338A>G (p.Glu2446=)
c.231-13717A>G
c.7368A>G (p.Glu2456=)
c.7263A>G (p.Glu2421=)
c.7254A>G (p.Glu2418=)
c.7215A>G (p.Glu2405=)
c.7161A>G (p.Glu2387=)
c.7065A>G (p.Glu2355=)
c.7035A>G (p.Glu2345=)
c.6960A>G (p.Glu2320=)
c.6858A>G (p.Glu2286=)
c.6489A>G (p.Glu2163=)
ClinVar dbSNP gnomAD v4
5g.112842932A>TCA16037314APCc.7392A>T (p.Glu2464Asp)
c.*7344A>T (n.*7344A>T)
c.7284A>T (p.Glu2428Asp)
c.7338A>T (p.Glu2446Asp)
c.231-13717A>T
c.7368A>T (p.Glu2456Asp)
c.7263A>T (p.Glu2421Asp)
c.7254A>T (p.Glu2418Asp)
c.7215A>T (p.Glu2405Asp)
c.7161A>T (p.Glu2387Asp)
c.7065A>T (p.Glu2355Asp)
c.7035A>T (p.Glu2345Asp)
c.6960A>T (p.Glu2320Asp)
c.6858A>T (p.Glu2286Asp)
c.6489A>T (p.Glu2163Asp)
dbSNP
5g.112842933G>ACA349234APCc.7393G>A (p.Ala2465Thr)
c.*7345G>A (n.*7345G>A)
c.7285G>A (p.Ala2429Thr)
c.7339G>A (p.Ala2447Thr)
c.231-13716G>A
c.7369G>A (p.Ala2457Thr)
c.7264G>A (p.Ala2422Thr)
c.7255G>A (p.Ala2419Thr)
c.7216G>A (p.Ala2406Thr)
c.7162G>A (p.Ala2388Thr)
c.7066G>A (p.Ala2356Thr)
c.7036G>A (p.Ala2346Thr)
c.6961G>A (p.Ala2321Thr)
c.6859G>A (p.Ala2287Thr)
c.6490G>A (p.Ala2164Thr)
ClinVar dbSNP gnomAD v4
5g.112842933G>CCA16037315APCc.7393G>C (p.Ala2465Pro)
c.*7345G>C (n.*7345G>C)
c.7285G>C (p.Ala2429Pro)
c.7339G>C (p.Ala2447Pro)
c.231-13716G>C
c.7369G>C (p.Ala2457Pro)
c.7264G>C (p.Ala2422Pro)
c.7255G>C (p.Ala2419Pro)
c.7216G>C (p.Ala2406Pro)
c.7162G>C (p.Ala2388Pro)
c.7066G>C (p.Ala2356Pro)
c.7036G>C (p.Ala2346Pro)
c.6961G>C (p.Ala2321Pro)
c.6859G>C (p.Ala2287Pro)
c.6490G>C (p.Ala2164Pro)
dbSNP
5g.112842933G=CA1573469566APCc.7393G= (p.Ala2465=)
c.*7345G= (n.*7345G=)
c.7285G= (p.Ala2429=)
c.7339G= (p.Ala2447=)
c.231-13716G=
c.7369G= (p.Ala2457=)
c.7264G= (p.Ala2422=)
c.7255G= (p.Ala2419=)
c.7216G= (p.Ala2406=)
c.7162G= (p.Ala2388=)
c.7066G= (p.Ala2356=)
c.7036G= (p.Ala2346=)
c.6961G= (p.Ala2321=)
c.6859G= (p.Ala2287=)
c.6490G= (p.Ala2164=)
5g.112842933G>TCA16037316APCc.7393G>T (p.Ala2465Ser)
c.*7345G>T (n.*7345G>T)
c.7285G>T (p.Ala2429Ser)
c.7339G>T (p.Ala2447Ser)
c.231-13716G>T
c.7369G>T (p.Ala2457Ser)
c.7264G>T (p.Ala2422Ser)
c.7255G>T (p.Ala2419Ser)
c.7216G>T (p.Ala2406Ser)
c.7162G>T (p.Ala2388Ser)
c.7066G>T (p.Ala2356Ser)
c.7036G>T (p.Ala2346Ser)
c.6961G>T (p.Ala2321Ser)
c.6859G>T (p.Ala2287Ser)
c.6490G>T (p.Ala2164Ser)
ClinVar dbSNP COSMIC
5g.112842934C>ACA16037317APCc.7394C>A (p.Ala2465Asp)
c.*7346C>A (n.*7346C>A)
c.7286C>A (p.Ala2429Asp)
c.7340C>A (p.Ala2447Asp)
c.231-13715C>A
c.7370C>A (p.Ala2457Asp)
c.7265C>A (p.Ala2422Asp)
c.7256C>A (p.Ala2419Asp)
c.7217C>A (p.Ala2406Asp)
c.7163C>A (p.Ala2388Asp)
c.7067C>A (p.Ala2356Asp)
c.7037C>A (p.Ala2346Asp)
c.6962C>A (p.Ala2321Asp)
c.6860C>A (p.Ala2287Asp)
c.6491C>A (p.Ala2164Asp)
dbSNP
5g.112842934C=CA1573469581APCc.7394C= (p.Ala2465=)
c.*7346C= (n.*7346C=)
c.7286C= (p.Ala2429=)
c.7340C= (p.Ala2447=)
c.231-13715C=
c.7370C= (p.Ala2457=)
c.7265C= (p.Ala2422=)
c.7256C= (p.Ala2419=)
c.7217C= (p.Ala2406=)
c.7163C= (p.Ala2388=)
c.7067C= (p.Ala2356=)
c.7037C= (p.Ala2346=)
c.6962C= (p.Ala2321=)
c.6860C= (p.Ala2287=)
c.6491C= (p.Ala2164=)
5g.112842934C>GCA16037318APCc.7394C>G (p.Ala2465Gly)
c.*7346C>G (n.*7346C>G)
c.7286C>G (p.Ala2429Gly)
c.7340C>G (p.Ala2447Gly)
c.231-13715C>G
c.7370C>G (p.Ala2457Gly)
c.7265C>G (p.Ala2422Gly)
c.7256C>G (p.Ala2419Gly)
c.7217C>G (p.Ala2406Gly)
c.7163C>G (p.Ala2388Gly)
c.7067C>G (p.Ala2356Gly)
c.7037C>G (p.Ala2346Gly)
c.6962C>G (p.Ala2321Gly)
c.6860C>G (p.Ala2287Gly)
c.6491C>G (p.Ala2164Gly)
ClinVar dbSNP
5g.112842934C>TCA16037319APCc.7394C>T (p.Ala2465Val)
c.*7346C>T (n.*7346C>T)
c.7286C>T (p.Ala2429Val)
c.7340C>T (p.Ala2447Val)
c.231-13715C>T
c.7370C>T (p.Ala2457Val)
c.7265C>T (p.Ala2422Val)
c.7256C>T (p.Ala2419Val)
c.7217C>T (p.Ala2406Val)
c.7163C>T (p.Ala2388Val)
c.7067C>T (p.Ala2356Val)
c.7037C>T (p.Ala2346Val)
c.6962C>T (p.Ala2321Val)
c.6860C>T (p.Ala2287Val)
c.6491C>T (p.Ala2164Val)
ClinVar dbSNP COSMIC
5g.112842935T>ACA446210441APCc.7395T>A (p.Ala2465=)
c.*7347T>A (n.*7347T>A)
c.7287T>A (p.Ala2429=)
c.7341T>A (p.Ala2447=)
c.231-13714T>A
c.7371T>A (p.Ala2457=)
c.7266T>A (p.Ala2422=)
c.7257T>A (p.Ala2419=)
c.7218T>A (p.Ala2406=)
c.7164T>A (p.Ala2388=)
c.7068T>A (p.Ala2356=)
c.7038T>A (p.Ala2346=)
c.6963T>A (p.Ala2321=)
c.6861T>A (p.Ala2287=)
c.6492T>A (p.Ala2164=)
5g.112842935T>CCA446210446APCc.7395T>C (p.Ala2465=)
c.*7347T>C (n.*7347T>C)
c.7287T>C (p.Ala2429=)
c.7341T>C (p.Ala2447=)
c.231-13714T>C
c.7371T>C (p.Ala2457=)
c.7266T>C (p.Ala2422=)
c.7257T>C (p.Ala2419=)
c.7218T>C (p.Ala2406=)
c.7164T>C (p.Ala2388=)
c.7068T>C (p.Ala2356=)
c.7038T>C (p.Ala2346=)
c.6963T>C (p.Ala2321=)
c.6861T>C (p.Ala2287=)
c.6492T>C (p.Ala2164=)
ClinVar dbSNP
5g.112842935T>GCA446210444APCc.7395T>G (p.Ala2465=)
c.*7347T>G (n.*7347T>G)
c.7287T>G (p.Ala2429=)
c.7341T>G (p.Ala2447=)
c.231-13714T>G
c.7371T>G (p.Ala2457=)
c.7266T>G (p.Ala2422=)
c.7257T>G (p.Ala2419=)
c.7218T>G (p.Ala2406=)
c.7164T>G (p.Ala2388=)
c.7068T>G (p.Ala2356=)
c.7038T>G (p.Ala2346=)
c.6963T>G (p.Ala2321=)
c.6861T>G (p.Ala2287=)
c.6492T>G (p.Ala2164=)
5g.112842935T=CA1573469615APCc.7395T= (p.Ala2465=)
c.*7347T= (n.*7347T=)
c.7287T= (p.Ala2429=)
c.7341T= (p.Ala2447=)
c.231-13714T=
c.7371T= (p.Ala2457=)
c.7266T= (p.Ala2422=)
c.7257T= (p.Ala2419=)
c.7218T= (p.Ala2406=)
c.7164T= (p.Ala2388=)
c.7068T= (p.Ala2356=)
c.7038T= (p.Ala2346=)
c.6963T= (p.Ala2321=)
c.6861T= (p.Ala2287=)
c.6492T= (p.Ala2164=)
5g.112842936C>ACA16037320APCc.7396C>A (p.Pro2466Thr)
c.*7348C>A (n.*7348C>A)
c.7288C>A (p.Pro2430Thr)
c.7342C>A (p.Pro2448Thr)
c.231-13713C>A
c.7372C>A (p.Pro2458Thr)
c.7267C>A (p.Pro2423Thr)
c.7258C>A (p.Pro2420Thr)
c.7219C>A (p.Pro2407Thr)
c.7165C>A (p.Pro2389Thr)
c.7069C>A (p.Pro2357Thr)
c.7039C>A (p.Pro2347Thr)
c.6964C>A (p.Pro2322Thr)
c.6862C>A (p.Pro2288Thr)
c.6493C>A (p.Pro2165Thr)
dbSNP
5g.112842936C=CA1573469623APCc.7396C= (p.Pro2466=)
c.*7348C= (n.*7348C=)
c.7288C= (p.Pro2430=)
c.7342C= (p.Pro2448=)
c.231-13713C=
c.7372C= (p.Pro2458=)
c.7267C= (p.Pro2423=)
c.7258C= (p.Pro2420=)
c.7219C= (p.Pro2407=)
c.7165C= (p.Pro2389=)
c.7069C= (p.Pro2357=)
c.7039C= (p.Pro2347=)
c.6964C= (p.Pro2322=)
c.6862C= (p.Pro2288=)
c.6493C= (p.Pro2165=)
5g.112842936C>GCA16037321APCc.7396C>G (p.Pro2466Ala)
c.*7348C>G (n.*7348C>G)
c.7288C>G (p.Pro2430Ala)
c.7342C>G (p.Pro2448Ala)
c.231-13713C>G
c.7372C>G (p.Pro2458Ala)
c.7267C>G (p.Pro2423Ala)
c.7258C>G (p.Pro2420Ala)
c.7219C>G (p.Pro2407Ala)
c.7165C>G (p.Pro2389Ala)
c.7069C>G (p.Pro2357Ala)
c.7039C>G (p.Pro2347Ala)
c.6964C>G (p.Pro2322Ala)
c.6862C>G (p.Pro2288Ala)
c.6493C>G (p.Pro2165Ala)
dbSNP
5g.112842936C>TCA16037322APCc.7396C>T (p.Pro2466Ser)
c.*7348C>T (n.*7348C>T)
c.7288C>T (p.Pro2430Ser)
c.7342C>T (p.Pro2448Ser)
c.231-13713C>T
c.7372C>T (p.Pro2458Ser)
c.7267C>T (p.Pro2423Ser)
c.7258C>T (p.Pro2420Ser)
c.7219C>T (p.Pro2407Ser)
c.7165C>T (p.Pro2389Ser)
c.7069C>T (p.Pro2357Ser)
c.7039C>T (p.Pro2347Ser)
c.6964C>T (p.Pro2322Ser)
c.6862C>T (p.Pro2288Ser)
c.6493C>T (p.Pro2165Ser)
ClinVar dbSNP
5g.112842937delCA2578379950APCc.7397del (p.Pro2466GlnfsTer5)
c.*7349del (n.*7349del)
c.7289del (p.Pro2430GlnfsTer5)
c.7343del (p.Pro2448GlnfsTer5)
c.231-13712del
c.7373del (p.Pro2458GlnfsTer5)
c.7268del (p.Pro2423GlnfsTer5)
c.7259del (p.Pro2420GlnfsTer5)
c.7220del (p.Pro2407GlnfsTer5)
c.7166del (p.Pro2389GlnfsTer5)
c.7070del (p.Pro2357GlnfsTer5)
c.7040del (p.Pro2347GlnfsTer5)
c.6965del (p.Pro2322GlnfsTer5)
c.6863del (p.Pro2288GlnfsTer5)
c.6494del (p.Pro2165GlnfsTer5)
5g.112842937C>ACA16037323APCc.7397C>A (p.Pro2466Gln)
c.*7349C>A (n.*7349C>A)
c.7289C>A (p.Pro2430Gln)
c.7343C>A (p.Pro2448Gln)
c.231-13712C>A
c.7373C>A (p.Pro2458Gln)
c.7268C>A (p.Pro2423Gln)
c.7259C>A (p.Pro2420Gln)
c.7220C>A (p.Pro2407Gln)
c.7166C>A (p.Pro2389Gln)
c.7070C>A (p.Pro2357Gln)
c.7040C>A (p.Pro2347Gln)
c.6965C>A (p.Pro2322Gln)
c.6863C>A (p.Pro2288Gln)
c.6494C>A (p.Pro2165Gln)
dbSNP
5g.112842937C=CA1573469629APCc.7397C= (p.Pro2466=)
c.*7349C= (n.*7349C=)
c.7289C= (p.Pro2430=)
c.7343C= (p.Pro2448=)
c.231-13712C=
c.7373C= (p.Pro2458=)
c.7268C= (p.Pro2423=)
c.7259C= (p.Pro2420=)
c.7220C= (p.Pro2407=)
c.7166C= (p.Pro2389=)
c.7070C= (p.Pro2357=)
c.7040C= (p.Pro2347=)
c.6965C= (p.Pro2322=)
c.6863C= (p.Pro2288=)
c.6494C= (p.Pro2165=)
5g.112842937C>GCA047784APCc.7397C>G (p.Pro2466Arg)
c.*7349C>G (n.*7349C>G)
c.7289C>G (p.Pro2430Arg)
c.7343C>G (p.Pro2448Arg)
c.231-13712C>G
c.7373C>G (p.Pro2458Arg)
c.7268C>G (p.Pro2423Arg)
c.7259C>G (p.Pro2420Arg)
c.7220C>G (p.Pro2407Arg)
c.7166C>G (p.Pro2389Arg)
c.7070C>G (p.Pro2357Arg)
c.7040C>G (p.Pro2347Arg)
c.6965C>G (p.Pro2322Arg)
c.6863C>G (p.Pro2288Arg)
c.6494C>G (p.Pro2165Arg)
ClinVar dbSNP ExAC gnomAD v2
5g.112842937C>TCA16037324APCc.7397C>T (p.Pro2466Leu)
c.*7349C>T (n.*7349C>T)
c.7289C>T (p.Pro2430Leu)
c.7343C>T (p.Pro2448Leu)
c.231-13712C>T
c.7373C>T (p.Pro2458Leu)
c.7268C>T (p.Pro2423Leu)
c.7259C>T (p.Pro2420Leu)
c.7220C>T (p.Pro2407Leu)
c.7166C>T (p.Pro2389Leu)
c.7070C>T (p.Pro2357Leu)
c.7040C>T (p.Pro2347Leu)
c.6965C>T (p.Pro2322Leu)
c.6863C>T (p.Pro2288Leu)
c.6494C>T (p.Pro2165Leu)
ClinVar dbSNP COSMIC
5g.112842938A>CCA446210449APCc.7398A>C (p.Pro2466=)
c.*7350A>C (n.*7350A>C)
c.7290A>C (p.Pro2430=)
c.7344A>C (p.Pro2448=)
c.231-13711A>C
c.7374A>C (p.Pro2458=)
c.7269A>C (p.Pro2423=)
c.7260A>C (p.Pro2420=)
c.7221A>C (p.Pro2407=)
c.7167A>C (p.Pro2389=)
c.7071A>C (p.Pro2357=)
c.7041A>C (p.Pro2347=)
c.6966A>C (p.Pro2322=)
c.6864A>C (p.Pro2288=)
c.6495A>C (p.Pro2165=)
ClinVar
5g.112842938A>GCA446210451APCc.7398A>G (p.Pro2466=)
c.*7350A>G (n.*7350A>G)
c.7290A>G (p.Pro2430=)
c.7344A>G (p.Pro2448=)
c.231-13711A>G
c.7374A>G (p.Pro2458=)
c.7269A>G (p.Pro2423=)
c.7260A>G (p.Pro2420=)
c.7221A>G (p.Pro2407=)
c.7167A>G (p.Pro2389=)
c.7071A>G (p.Pro2357=)
c.7041A>G (p.Pro2347=)
c.6966A>G (p.Pro2322=)
c.6864A>G (p.Pro2288=)
c.6495A>G (p.Pro2165=)
dbSNP
5g.112842938A>TCA446210453APCc.7398A>T (p.Pro2466=)
c.*7350A>T (n.*7350A>T)
c.7290A>T (p.Pro2430=)
c.7344A>T (p.Pro2448=)
c.231-13711A>T
c.7374A>T (p.Pro2458=)
c.7269A>T (p.Pro2423=)
c.7260A>T (p.Pro2420=)
c.7221A>T (p.Pro2407=)
c.7167A>T (p.Pro2389=)
c.7071A>T (p.Pro2357=)
c.7041A>T (p.Pro2347=)
c.6966A>T (p.Pro2322=)
c.6864A>T (p.Pro2288=)
c.6495A>T (p.Pro2165=)
dbSNP
5g.112842939A>CCA16037325APCc.7399A>C (p.Ser2467Arg)
c.*7351A>C (n.*7351A>C)
c.7291A>C (p.Ser2431Arg)
c.7345A>C (p.Ser2449Arg)
c.231-13710A>C
c.7375A>C (p.Ser2459Arg)
c.7270A>C (p.Ser2424Arg)
c.7261A>C (p.Ser2421Arg)
c.7222A>C (p.Ser2408Arg)
c.7168A>C (p.Ser2390Arg)
c.7072A>C (p.Ser2358Arg)
c.7042A>C (p.Ser2348Arg)
c.6967A>C (p.Ser2323Arg)
c.6865A>C (p.Ser2289Arg)
c.6496A>C (p.Ser2166Arg)
5g.112842939A>GCA16037326APCc.7399A>G (p.Ser2467Gly)
c.*7351A>G (n.*7351A>G)
c.7291A>G (p.Ser2431Gly)
c.7345A>G (p.Ser2449Gly)
c.231-13710A>G
c.7375A>G (p.Ser2459Gly)
c.7270A>G (p.Ser2424Gly)
c.7261A>G (p.Ser2421Gly)
c.7222A>G (p.Ser2408Gly)
c.7168A>G (p.Ser2390Gly)
c.7072A>G (p.Ser2358Gly)
c.7042A>G (p.Ser2348Gly)
c.6967A>G (p.Ser2323Gly)
c.6865A>G (p.Ser2289Gly)
c.6496A>G (p.Ser2166Gly)
ClinVar dbSNP
5g.112842939A>TCA16037327APCc.7399A>T (p.Ser2467Cys)
c.*7351A>T (n.*7351A>T)
c.7291A>T (p.Ser2431Cys)
c.7345A>T (p.Ser2449Cys)
c.231-13710A>T
c.7375A>T (p.Ser2459Cys)
c.7270A>T (p.Ser2424Cys)
c.7261A>T (p.Ser2421Cys)
c.7222A>T (p.Ser2408Cys)
c.7168A>T (p.Ser2390Cys)
c.7072A>T (p.Ser2358Cys)
c.7042A>T (p.Ser2348Cys)
c.6967A>T (p.Ser2323Cys)
c.6865A>T (p.Ser2289Cys)
c.6496A>T (p.Ser2166Cys)
dbSNP
5g.112842940G>ACA16037328APCc.7400G>A (p.Ser2467Asn)
c.*7352G>A (n.*7352G>A)
c.7292G>A (p.Ser2431Asn)
c.7346G>A (p.Ser2449Asn)
c.231-13709G>A
c.7376G>A (p.Ser2459Asn)
c.7271G>A (p.Ser2424Asn)
c.7262G>A (p.Ser2421Asn)
c.7223G>A (p.Ser2408Asn)
c.7169G>A (p.Ser2390Asn)
c.7073G>A (p.Ser2358Asn)
c.7043G>A (p.Ser2348Asn)
c.6968G>A (p.Ser2323Asn)
c.6866G>A (p.Ser2289Asn)
c.6497G>A (p.Ser2166Asn)
ClinVar
5g.112842940G>CCA16037329APCc.7400G>C (p.Ser2467Thr)
c.*7352G>C (n.*7352G>C)
c.7292G>C (p.Ser2431Thr)
c.7346G>C (p.Ser2449Thr)
c.231-13709G>C
c.7376G>C (p.Ser2459Thr)
c.7271G>C (p.Ser2424Thr)
c.7262G>C (p.Ser2421Thr)
c.7223G>C (p.Ser2408Thr)
c.7169G>C (p.Ser2390Thr)
c.7073G>C (p.Ser2358Thr)
c.7043G>C (p.Ser2348Thr)
c.6968G>C (p.Ser2323Thr)
c.6866G>C (p.Ser2289Thr)
c.6497G>C (p.Ser2166Thr)
ClinVar dbSNP
5g.112842940G=CA1573469657APCc.7400G= (p.Ser2467=)
c.*7352G= (n.*7352G=)
c.7292G= (p.Ser2431=)
c.7346G= (p.Ser2449=)
c.231-13709G=
c.7376G= (p.Ser2459=)
c.7271G= (p.Ser2424=)
c.7262G= (p.Ser2421=)
c.7223G= (p.Ser2408=)
c.7169G= (p.Ser2390=)
c.7073G= (p.Ser2358=)
c.7043G= (p.Ser2348=)
c.6968G= (p.Ser2323=)
c.6866G= (p.Ser2289=)
c.6497G= (p.Ser2166=)
5g.112842940G>TCA16037330APCc.7400G>T (p.Ser2467Ile)
c.*7352G>T (n.*7352G>T)
c.7292G>T (p.Ser2431Ile)
c.7346G>T (p.Ser2449Ile)
c.231-13709G>T
c.7376G>T (p.Ser2459Ile)
c.7271G>T (p.Ser2424Ile)
c.7262G>T (p.Ser2421Ile)
c.7223G>T (p.Ser2408Ile)
c.7169G>T (p.Ser2390Ile)
c.7073G>T (p.Ser2358Ile)
c.7043G>T (p.Ser2348Ile)
c.6968G>T (p.Ser2323Ile)
c.6866G>T (p.Ser2289Ile)
c.6497G>T (p.Ser2166Ile)
5g.112842941C>ACA16037331APCc.7401C>A (p.Ser2467Arg)
c.*7353C>A (n.*7353C>A)
c.7293C>A (p.Ser2431Arg)
c.7347C>A (p.Ser2449Arg)
c.231-13708C>A
c.7377C>A (p.Ser2459Arg)
c.7272C>A (p.Ser2424Arg)
c.7263C>A (p.Ser2421Arg)
c.7224C>A (p.Ser2408Arg)
c.7170C>A (p.Ser2390Arg)
c.7074C>A (p.Ser2358Arg)
c.7044C>A (p.Ser2348Arg)
c.6969C>A (p.Ser2323Arg)
c.6867C>A (p.Ser2289Arg)
c.6498C>A (p.Ser2166Arg)
dbSNP
5g.112842941C>GCA16037332APCc.7401C>G (p.Ser2467Arg)
c.*7353C>G (n.*7353C>G)
c.7293C>G (p.Ser2431Arg)
c.7347C>G (p.Ser2449Arg)
c.231-13708C>G
c.7377C>G (p.Ser2459Arg)
c.7272C>G (p.Ser2424Arg)
c.7263C>G (p.Ser2421Arg)
c.7224C>G (p.Ser2408Arg)
c.7170C>G (p.Ser2390Arg)
c.7074C>G (p.Ser2358Arg)
c.7044C>G (p.Ser2348Arg)
c.6969C>G (p.Ser2323Arg)
c.6867C>G (p.Ser2289Arg)
c.6498C>G (p.Ser2166Arg)
ClinVar dbSNP
5g.112842941C>TCA446210457APCc.7401C>T (p.Ser2467=)
c.*7353C>T (n.*7353C>T)
c.7293C>T (p.Ser2431=)
c.7347C>T (p.Ser2449=)
c.231-13708C>T
c.7377C>T (p.Ser2459=)
c.7272C>T (p.Ser2424=)
c.7263C>T (p.Ser2421=)
c.7224C>T (p.Ser2408=)
c.7170C>T (p.Ser2390=)
c.7074C>T (p.Ser2358=)
c.7044C>T (p.Ser2348=)
c.6969C>T (p.Ser2323=)
c.6867C>T (p.Ser2289=)
c.6498C>T (p.Ser2166=)
ClinVar dbSNP gnomAD v4
5g.112842943dupCA2697546402APCc.7403dup (p.Thr2469AsnfsTer13)
c.*7355dup (n.*7355dup)
c.7295dup (p.Thr2433AsnfsTer13)
c.7349dup (p.Thr2451AsnfsTer13)
c.231-13706dup
c.7379dup (p.Thr2461AsnfsTer13)
c.7274dup (p.Thr2426AsnfsTer13)
c.7265dup (p.Thr2423AsnfsTer13)
c.7226dup (p.Thr2410AsnfsTer13)
c.7172dup (p.Thr2392AsnfsTer13)
c.7076dup (p.Thr2360AsnfsTer13)
c.7046dup (p.Thr2350AsnfsTer13)
c.6971dup (p.Thr2325AsnfsTer13)
c.6869dup (p.Thr2291AsnfsTer13)
c.6500dup (p.Thr2168AsnfsTer13)
ClinVar
5g.112842942C>ACA16037333APCc.7402C>A (p.Pro2468Thr)
c.*7354C>A (n.*7354C>A)
c.7294C>A (p.Pro2432Thr)
c.7348C>A (p.Pro2450Thr)
c.231-13707C>A
c.7378C>A (p.Pro2460Thr)
c.7273C>A (p.Pro2425Thr)
c.7264C>A (p.Pro2422Thr)
c.7225C>A (p.Pro2409Thr)
c.7171C>A (p.Pro2391Thr)
c.7075C>A (p.Pro2359Thr)
c.7045C>A (p.Pro2349Thr)
c.6970C>A (p.Pro2324Thr)
c.6868C>A (p.Pro2290Thr)
c.6499C>A (p.Pro2167Thr)
ClinVar dbSNP
5g.112842942C=CA1573469670APCc.7402C= (p.Pro2468=)
c.*7354C= (n.*7354C=)
c.7294C= (p.Pro2432=)
c.7348C= (p.Pro2450=)
c.231-13707C=
c.7378C= (p.Pro2460=)
c.7273C= (p.Pro2425=)
c.7264C= (p.Pro2422=)
c.7225C= (p.Pro2409=)
c.7171C= (p.Pro2391=)
c.7075C= (p.Pro2359=)
c.7045C= (p.Pro2349=)
c.6970C= (p.Pro2324=)
c.6868C= (p.Pro2290=)
c.6499C= (p.Pro2167=)
5g.112842942C>GCA16037334APCc.7402C>G (p.Pro2468Ala)
c.*7354C>G (n.*7354C>G)
c.7294C>G (p.Pro2432Ala)
c.7348C>G (p.Pro2450Ala)
c.231-13707C>G
c.7378C>G (p.Pro2460Ala)
c.7273C>G (p.Pro2425Ala)
c.7264C>G (p.Pro2422Ala)
c.7225C>G (p.Pro2409Ala)
c.7171C>G (p.Pro2391Ala)
c.7075C>G (p.Pro2359Ala)
c.7045C>G (p.Pro2349Ala)
c.6970C>G (p.Pro2324Ala)
c.6868C>G (p.Pro2290Ala)
c.6499C>G (p.Pro2167Ala)
dbSNP
5g.112842942C>TCA16037335APCc.7402C>T (p.Pro2468Ser)
c.*7354C>T (n.*7354C>T)
c.7294C>T (p.Pro2432Ser)
c.7348C>T (p.Pro2450Ser)
c.231-13707C>T
c.7378C>T (p.Pro2460Ser)
c.7273C>T (p.Pro2425Ser)
c.7264C>T (p.Pro2422Ser)
c.7225C>T (p.Pro2409Ser)
c.7171C>T (p.Pro2391Ser)
c.7075C>T (p.Pro2359Ser)
c.7045C>T (p.Pro2349Ser)
c.6970C>T (p.Pro2324Ser)
c.6868C>T (p.Pro2290Ser)
c.6499C>T (p.Pro2167Ser)
dbSNP gnomAD v4
5g.112842943C>ACA16037336APCc.7403C>A (p.Pro2468Gln)
c.*7355C>A (n.*7355C>A)
c.7295C>A (p.Pro2432Gln)
c.7349C>A (p.Pro2450Gln)
c.231-13706C>A
c.7379C>A (p.Pro2460Gln)
c.7274C>A (p.Pro2425Gln)
c.7265C>A (p.Pro2422Gln)
c.7226C>A (p.Pro2409Gln)
c.7172C>A (p.Pro2391Gln)
c.7076C>A (p.Pro2359Gln)
c.7046C>A (p.Pro2349Gln)
c.6971C>A (p.Pro2324Gln)
c.6869C>A (p.Pro2290Gln)
c.6500C>A (p.Pro2167Gln)
dbSNP
5g.112842943C=CA1573469683APCc.7403C= (p.Pro2468=)
c.*7355C= (n.*7355C=)
c.7295C= (p.Pro2432=)
c.7349C= (p.Pro2450=)
c.231-13706C=
c.7379C= (p.Pro2460=)
c.7274C= (p.Pro2425=)
c.7265C= (p.Pro2422=)
c.7226C= (p.Pro2409=)
c.7172C= (p.Pro2391=)
c.7076C= (p.Pro2359=)
c.7046C= (p.Pro2349=)
c.6971C= (p.Pro2324=)
c.6869C= (p.Pro2290=)
c.6500C= (p.Pro2167=)
5g.112842943C>GCA16037337APCc.7403C>G (p.Pro2468Arg)
c.*7355C>G (n.*7355C>G)
c.7295C>G (p.Pro2432Arg)
c.7349C>G (p.Pro2450Arg)
c.231-13706C>G
c.7379C>G (p.Pro2460Arg)
c.7274C>G (p.Pro2425Arg)
c.7265C>G (p.Pro2422Arg)
c.7226C>G (p.Pro2409Arg)
c.7172C>G (p.Pro2391Arg)
c.7076C>G (p.Pro2359Arg)
c.7046C>G (p.Pro2349Arg)
c.6971C>G (p.Pro2324Arg)
c.6869C>G (p.Pro2290Arg)
c.6500C>G (p.Pro2167Arg)
dbSNP
5g.112842943C>TCA16037338APCc.7403C>T (p.Pro2468Leu)
c.*7355C>T (n.*7355C>T)
c.7295C>T (p.Pro2432Leu)
c.7349C>T (p.Pro2450Leu)
c.231-13706C>T
c.7379C>T (p.Pro2460Leu)
c.7274C>T (p.Pro2425Leu)
c.7265C>T (p.Pro2422Leu)
c.7226C>T (p.Pro2409Leu)
c.7172C>T (p.Pro2391Leu)
c.7076C>T (p.Pro2359Leu)
c.7046C>T (p.Pro2349Leu)
c.6971C>T (p.Pro2324Leu)
c.6869C>T (p.Pro2290Leu)
c.6500C>T (p.Pro2167Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842944A=CA1573469687APCc.7404A= (p.Pro2468=)
c.*7356A= (n.*7356A=)
c.7296A= (p.Pro2432=)
c.7350A= (p.Pro2450=)
c.231-13705A=
c.7380A= (p.Pro2460=)
c.7275A= (p.Pro2425=)
c.7266A= (p.Pro2422=)
c.7227A= (p.Pro2409=)
c.7173A= (p.Pro2391=)
c.7077A= (p.Pro2359=)
c.7047A= (p.Pro2349=)
c.6972A= (p.Pro2324=)
c.6870A= (p.Pro2290=)
c.6501A= (p.Pro2167=)
5g.112842944A>CCA446210465APCc.7404A>C (p.Pro2468=)
c.*7356A>C (n.*7356A>C)
c.7296A>C (p.Pro2432=)
c.7350A>C (p.Pro2450=)
c.231-13705A>C
c.7380A>C (p.Pro2460=)
c.7275A>C (p.Pro2425=)
c.7266A>C (p.Pro2422=)
c.7227A>C (p.Pro2409=)
c.7173A>C (p.Pro2391=)
c.7077A>C (p.Pro2359=)
c.7047A>C (p.Pro2349=)
c.6972A>C (p.Pro2324=)
c.6870A>C (p.Pro2290=)
c.6501A>C (p.Pro2167=)
gnomAD v4
5g.112842944A>GCA16605195APCc.7404A>G (p.Pro2468=)
c.*7356A>G (n.*7356A>G)
c.7296A>G (p.Pro2432=)
c.7350A>G (p.Pro2450=)
c.231-13705A>G
c.7380A>G (p.Pro2460=)
c.7275A>G (p.Pro2425=)
c.7266A>G (p.Pro2422=)
c.7227A>G (p.Pro2409=)
c.7173A>G (p.Pro2391=)
c.7077A>G (p.Pro2359=)
c.7047A>G (p.Pro2349=)
c.6972A>G (p.Pro2324=)
c.6870A>G (p.Pro2290=)
c.6501A>G (p.Pro2167=)
ClinVar dbSNP
5g.112842944A>TCA446210464APCc.7404A>T (p.Pro2468=)
c.*7356A>T (n.*7356A>T)
c.7296A>T (p.Pro2432=)
c.7350A>T (p.Pro2450=)
c.231-13705A>T
c.7380A>T (p.Pro2460=)
c.7275A>T (p.Pro2425=)
c.7266A>T (p.Pro2422=)
c.7227A>T (p.Pro2409=)
c.7173A>T (p.Pro2391=)
c.7077A>T (p.Pro2359=)
c.7047A>T (p.Pro2349=)
c.6972A>T (p.Pro2324=)
c.6870A>T (p.Pro2290=)
c.6501A>T (p.Pro2167=)
dbSNP
5g.112842945A=CA1573469696APCc.7405A= (p.Thr2469=)
c.*7357A= (n.*7357A=)
c.7297A= (p.Thr2433=)
c.7351A= (p.Thr2451=)
c.231-13704A=
c.7381A= (p.Thr2461=)
c.7276A= (p.Thr2426=)
c.7267A= (p.Thr2423=)
c.7228A= (p.Thr2410=)
c.7174A= (p.Thr2392=)
c.7078A= (p.Thr2360=)
c.7048A= (p.Thr2350=)
c.6973A= (p.Thr2325=)
c.6871A= (p.Thr2291=)
c.6502A= (p.Thr2168=)
5g.112842945A>CCA16037339APCc.7405A>C (p.Thr2469Pro)
c.*7357A>C (n.*7357A>C)
c.7297A>C (p.Thr2433Pro)
c.7351A>C (p.Thr2451Pro)
c.231-13704A>C
c.7381A>C (p.Thr2461Pro)
c.7276A>C (p.Thr2426Pro)
c.7267A>C (p.Thr2423Pro)
c.7228A>C (p.Thr2410Pro)
c.7174A>C (p.Thr2392Pro)
c.7078A>C (p.Thr2360Pro)
c.7048A>C (p.Thr2350Pro)
c.6973A>C (p.Thr2325Pro)
c.6871A>C (p.Thr2291Pro)
c.6502A>C (p.Thr2168Pro)
dbSNP
5g.112842945A>GCA16037340APCc.7405A>G (p.Thr2469Ala)
c.*7357A>G (n.*7357A>G)
c.7297A>G (p.Thr2433Ala)
c.7351A>G (p.Thr2451Ala)
c.231-13704A>G
c.7381A>G (p.Thr2461Ala)
c.7276A>G (p.Thr2426Ala)
c.7267A>G (p.Thr2423Ala)
c.7228A>G (p.Thr2410Ala)
c.7174A>G (p.Thr2392Ala)
c.7078A>G (p.Thr2360Ala)
c.7048A>G (p.Thr2350Ala)
c.6973A>G (p.Thr2325Ala)
c.6871A>G (p.Thr2291Ala)
c.6502A>G (p.Thr2168Ala)
ClinVar dbSNP
5g.112842945A>TCA16037341APCc.7405A>T (p.Thr2469Ser)
c.*7357A>T (n.*7357A>T)
c.7297A>T (p.Thr2433Ser)
c.7351A>T (p.Thr2451Ser)
c.231-13704A>T
c.7381A>T (p.Thr2461Ser)
c.7276A>T (p.Thr2426Ser)
c.7267A>T (p.Thr2423Ser)
c.7228A>T (p.Thr2410Ser)
c.7174A>T (p.Thr2392Ser)
c.7078A>T (p.Thr2360Ser)
c.7048A>T (p.Thr2350Ser)
c.6973A>T (p.Thr2325Ser)
c.6871A>T (p.Thr2291Ser)
c.6502A>T (p.Thr2168Ser)
dbSNP
5g.112842946C>ACA16037342APCc.7406C>A (p.Thr2469Asn)
c.*7358C>A (n.*7358C>A)
c.7298C>A (p.Thr2433Asn)
c.7352C>A (p.Thr2451Asn)
c.231-13703C>A
c.7382C>A (p.Thr2461Asn)
c.7277C>A (p.Thr2426Asn)
c.7268C>A (p.Thr2423Asn)
c.7229C>A (p.Thr2410Asn)
c.7175C>A (p.Thr2392Asn)
c.7079C>A (p.Thr2360Asn)
c.7049C>A (p.Thr2350Asn)
c.6974C>A (p.Thr2325Asn)
c.6872C>A (p.Thr2291Asn)
c.6503C>A (p.Thr2168Asn)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112842946C=CA1573469701APCc.7406C= (p.Thr2469=)
c.*7358C= (n.*7358C=)
c.7298C= (p.Thr2433=)
c.7352C= (p.Thr2451=)
c.231-13703C=
c.7382C= (p.Thr2461=)
c.7277C= (p.Thr2426=)
c.7268C= (p.Thr2423=)
c.7229C= (p.Thr2410=)
c.7175C= (p.Thr2392=)
c.7079C= (p.Thr2360=)
c.7049C= (p.Thr2350=)
c.6974C= (p.Thr2325=)
c.6872C= (p.Thr2291=)
c.6503C= (p.Thr2168=)
5g.112842946C>GCA16037343APCc.7406C>G (p.Thr2469Ser)
c.*7358C>G (n.*7358C>G)
c.7298C>G (p.Thr2433Ser)
c.7352C>G (p.Thr2451Ser)
c.231-13703C>G
c.7382C>G (p.Thr2461Ser)
c.7277C>G (p.Thr2426Ser)
c.7268C>G (p.Thr2423Ser)
c.7229C>G (p.Thr2410Ser)
c.7175C>G (p.Thr2392Ser)
c.7079C>G (p.Thr2360Ser)
c.7049C>G (p.Thr2350Ser)
c.6974C>G (p.Thr2325Ser)
c.6872C>G (p.Thr2291Ser)
c.6503C>G (p.Thr2168Ser)
dbSNP
5g.112842946C>TCA16037344APCc.7406C>T (p.Thr2469Ile)
c.*7358C>T (n.*7358C>T)
c.7298C>T (p.Thr2433Ile)
c.7352C>T (p.Thr2451Ile)
c.231-13703C>T
c.7382C>T (p.Thr2461Ile)
c.7277C>T (p.Thr2426Ile)
c.7268C>T (p.Thr2423Ile)
c.7229C>T (p.Thr2410Ile)
c.7175C>T (p.Thr2392Ile)
c.7079C>T (p.Thr2360Ile)
c.7049C>T (p.Thr2350Ile)
c.6974C>T (p.Thr2325Ile)
c.6872C>T (p.Thr2291Ile)
c.6503C>T (p.Thr2168Ile)
ClinVar dbSNP gnomAD v4
5g.112842947C>ACA446210471APCc.7407C>A (p.Thr2469=)
c.*7359C>A (n.*7359C>A)
c.7299C>A (p.Thr2433=)
c.7353C>A (p.Thr2451=)
c.231-13702C>A
c.7383C>A (p.Thr2461=)
c.7278C>A (p.Thr2426=)
c.7269C>A (p.Thr2423=)
c.7230C>A (p.Thr2410=)
c.7176C>A (p.Thr2392=)
c.7080C>A (p.Thr2360=)
c.7050C>A (p.Thr2350=)
c.6975C>A (p.Thr2325=)
c.6873C>A (p.Thr2291=)
c.6504C>A (p.Thr2168=)
dbSNP
5g.112842947C>GCA446210472APCc.7407C>G (p.Thr2469=)
c.*7359C>G (n.*7359C>G)
c.7299C>G (p.Thr2433=)
c.7353C>G (p.Thr2451=)
c.231-13702C>G
c.7383C>G (p.Thr2461=)
c.7278C>G (p.Thr2426=)
c.7269C>G (p.Thr2423=)
c.7230C>G (p.Thr2410=)
c.7176C>G (p.Thr2392=)
c.7080C>G (p.Thr2360=)
c.7050C>G (p.Thr2350=)
c.6975C>G (p.Thr2325=)
c.6873C>G (p.Thr2291=)
c.6504C>G (p.Thr2168=)
dbSNP
5g.112842947C>TCA446210473APCc.7407C>T (p.Thr2469=)
c.*7359C>T (n.*7359C>T)
c.7299C>T (p.Thr2433=)
c.7353C>T (p.Thr2451=)
c.231-13702C>T
c.7383C>T (p.Thr2461=)
c.7278C>T (p.Thr2426=)
c.7269C>T (p.Thr2423=)
c.7230C>T (p.Thr2410=)
c.7176C>T (p.Thr2392=)
c.7080C>T (p.Thr2360=)
c.7050C>T (p.Thr2350=)
c.6975C>T (p.Thr2325=)
c.6873C>T (p.Thr2291=)
c.6504C>T (p.Thr2168=)
dbSNP
5g.112842948T>ACA16037345APCc.7408T>A (p.Leu2470Ile)
c.*7360T>A (n.*7360T>A)
c.7300T>A (p.Leu2434Ile)
c.7354T>A (p.Leu2452Ile)
c.231-13701T>A
c.7384T>A (p.Leu2462Ile)
c.7279T>A (p.Leu2427Ile)
c.7270T>A (p.Leu2424Ile)
c.7231T>A (p.Leu2411Ile)
c.7177T>A (p.Leu2393Ile)
c.7081T>A (p.Leu2361Ile)
c.7051T>A (p.Leu2351Ile)
c.6976T>A (p.Leu2326Ile)
c.6874T>A (p.Leu2292Ile)
c.6505T>A (p.Leu2169Ile)
dbSNP
5g.112842948T>CCA446210474APCc.7408T>C (p.Leu2470=)
c.*7360T>C (n.*7360T>C)
c.7300T>C (p.Leu2434=)
c.7354T>C (p.Leu2452=)
c.231-13701T>C
c.7384T>C (p.Leu2462=)
c.7279T>C (p.Leu2427=)
c.7270T>C (p.Leu2424=)
c.7231T>C (p.Leu2411=)
c.7177T>C (p.Leu2393=)
c.7081T>C (p.Leu2361=)
c.7051T>C (p.Leu2351=)
c.6976T>C (p.Leu2326=)
c.6874T>C (p.Leu2292=)
c.6505T>C (p.Leu2169=)
dbSNP
5g.112842948T>GCA16037346APCc.7408T>G (p.Leu2470Val)
c.*7360T>G (n.*7360T>G)
c.7300T>G (p.Leu2434Val)
c.7354T>G (p.Leu2452Val)
c.231-13701T>G
c.7384T>G (p.Leu2462Val)
c.7279T>G (p.Leu2427Val)
c.7270T>G (p.Leu2424Val)
c.7231T>G (p.Leu2411Val)
c.7177T>G (p.Leu2393Val)
c.7081T>G (p.Leu2361Val)
c.7051T>G (p.Leu2351Val)
c.6976T>G (p.Leu2326Val)
c.6874T>G (p.Leu2292Val)
c.6505T>G (p.Leu2169Val)
ClinVar dbSNP
5g.112842948T=CA1573469726APCc.7408T= (p.Leu2470=)
c.*7360T= (n.*7360T=)
c.7300T= (p.Leu2434=)
c.7354T= (p.Leu2452=)
c.231-13701T=
c.7384T= (p.Leu2462=)
c.7279T= (p.Leu2427=)
c.7270T= (p.Leu2424=)
c.7231T= (p.Leu2411=)
c.7177T= (p.Leu2393=)
c.7081T= (p.Leu2361=)
c.7051T= (p.Leu2351=)
c.6976T= (p.Leu2326=)
c.6874T= (p.Leu2292=)
c.6505T= (p.Leu2169=)
5g.112842949T>ACA16037347APCc.7409T>A (p.Leu2470Ter)
c.*7361T>A (n.*7361T>A)
c.7301T>A (p.Leu2434Ter)
c.7355T>A (p.Leu2452Ter)
c.231-13700T>A
c.7385T>A (p.Leu2462Ter)
c.7280T>A (p.Leu2427Ter)
c.7271T>A (p.Leu2424Ter)
c.7232T>A (p.Leu2411Ter)
c.7178T>A (p.Leu2393Ter)
c.7082T>A (p.Leu2361Ter)
c.7052T>A (p.Leu2351Ter)
c.6977T>A (p.Leu2326Ter)
c.6875T>A (p.Leu2292Ter)
c.6506T>A (p.Leu2169Ter)
5g.112842949T>CCA16037348APCc.7409T>C (p.Leu2470Ser)
c.*7361T>C (n.*7361T>C)
c.7301T>C (p.Leu2434Ser)
c.7355T>C (p.Leu2452Ser)
c.231-13700T>C
c.7385T>C (p.Leu2462Ser)
c.7280T>C (p.Leu2427Ser)
c.7271T>C (p.Leu2424Ser)
c.7232T>C (p.Leu2411Ser)
c.7178T>C (p.Leu2393Ser)
c.7082T>C (p.Leu2361Ser)
c.7052T>C (p.Leu2351Ser)
c.6977T>C (p.Leu2326Ser)
c.6875T>C (p.Leu2292Ser)
c.6506T>C (p.Leu2169Ser)
5g.112842949T>GCA16037349APCc.7409T>G (p.Leu2470Ter)
c.*7361T>G (n.*7361T>G)
c.7301T>G (p.Leu2434Ter)
c.7355T>G (p.Leu2452Ter)
c.231-13700T>G
c.7385T>G (p.Leu2462Ter)
c.7280T>G (p.Leu2427Ter)
c.7271T>G (p.Leu2424Ter)
c.7232T>G (p.Leu2411Ter)
c.7178T>G (p.Leu2393Ter)
c.7082T>G (p.Leu2361Ter)
c.7052T>G (p.Leu2351Ter)
c.6977T>G (p.Leu2326Ter)
c.6875T>G (p.Leu2292Ter)
c.6506T>G (p.Leu2169Ter)
ClinVar
5g.112842949_112842952delinsTAAGCA1573469732APCc.7409_7412delinsTAAG (p.Leu2470=)
c.*7361_*7364delinsTAAG (n.*7361_*7364delinsTAAG)
c.7301_7304delinsTAAG (p.Leu2434=)
c.7355_7358delinsTAAG (p.Leu2452=)
c.231-13700_231-13697delinsTAAG
c.7385_7388delinsTAAG (p.Leu2462=)
c.7280_7283delinsTAAG (p.Leu2427=)
c.7271_7274delinsTAAG (p.Leu2424=)
c.7232_7235delinsTAAG (p.Leu2411=)
c.7178_7181delinsTAAG (p.Leu2393=)
c.7082_7085delinsTAAG (p.Leu2361=)
c.7052_7055delinsTAAG (p.Leu2351=)
c.6977_6980delinsTAAG (p.Leu2326=)
c.6875_6878delinsTAAG (p.Leu2292=)
c.6506_6509delinsTAAG (p.Leu2169=)
5g.112842950A>CCA16037350APCc.7410A>C (p.Leu2470Phe)
c.*7362A>C (n.*7362A>C)
c.7302A>C (p.Leu2434Phe)
c.7356A>C (p.Leu2452Phe)
c.231-13699A>C
c.7386A>C (p.Leu2462Phe)
c.7281A>C (p.Leu2427Phe)
c.7272A>C (p.Leu2424Phe)
c.7233A>C (p.Leu2411Phe)
c.7179A>C (p.Leu2393Phe)
c.7083A>C (p.Leu2361Phe)
c.7053A>C (p.Leu2351Phe)
c.6978A>C (p.Leu2326Phe)
c.6876A>C (p.Leu2292Phe)
c.6507A>C (p.Leu2169Phe)
5g.112842950A>GCA446210483APCc.7410A>G (p.Leu2470=)
c.*7362A>G (n.*7362A>G)
c.7302A>G (p.Leu2434=)
c.7356A>G (p.Leu2452=)
c.231-13699A>G
c.7386A>G (p.Leu2462=)
c.7281A>G (p.Leu2427=)
c.7272A>G (p.Leu2424=)
c.7233A>G (p.Leu2411=)
c.7179A>G (p.Leu2393=)
c.7083A>G (p.Leu2361=)
c.7053A>G (p.Leu2351=)
c.6978A>G (p.Leu2326=)
c.6876A>G (p.Leu2292=)
c.6507A>G (p.Leu2169=)
ClinVar dbSNP
5g.112842950A>TCA16037351APCc.7410A>T (p.Leu2470Phe)
c.*7362A>T (n.*7362A>T)
c.7302A>T (p.Leu2434Phe)
c.7356A>T (p.Leu2452Phe)
c.231-13699A>T
c.7386A>T (p.Leu2462Phe)
c.7281A>T (p.Leu2427Phe)
c.7272A>T (p.Leu2424Phe)
c.7233A>T (p.Leu2411Phe)
c.7179A>T (p.Leu2393Phe)
c.7083A>T (p.Leu2361Phe)
c.7053A>T (p.Leu2351Phe)
c.6978A>T (p.Leu2326Phe)
c.6876A>T (p.Leu2292Phe)
c.6507A>T (p.Leu2169Phe)
dbSNP
5g.112842951delCA645554611APCc.7411del (p.Arg2471GlufsTer?)
c.*7363del (n.*7363del)
c.7303del (p.Arg2435GlufsTer?)
c.7357del (p.Arg2453GlufsTer?)
c.231-13698del
c.7387del (p.Arg2463GlufsTer?)
c.7282del (p.Arg2428GlufsTer?)
c.7273del (p.Arg2425GlufsTer?)
c.7234del (p.Arg2412GlufsTer?)
c.7180del (p.Arg2394GlufsTer?)
c.7084del (p.Arg2362GlufsTer?)
c.7054del (p.Arg2352GlufsTer?)
c.6979del (p.Arg2327GlufsTer?)
c.6877del (p.Arg2293GlufsTer?)
c.6508del (p.Arg2170GlufsTer?)
COSMIC
5g.112842955_112842957delCA658796572APCc.7415_7417del (p.Arg2472del)
c.*7367_*7369del (n.*7367_*7369del)
c.7307_7309del (p.Arg2436del)
c.7361_7363del (p.Arg2454del)
c.231-13694_231-13692del
c.7391_7393del (p.Arg2464del)
c.7286_7288del (p.Arg2429del)
c.7277_7279del (p.Arg2426del)
c.7238_7240del (p.Arg2413del)
c.7184_7186del (p.Arg2395del)
c.7088_7090del (p.Arg2363del)
c.7058_7060del (p.Arg2353del)
c.6983_6985del (p.Arg2328del)
c.6881_6883del (p.Arg2294del)
c.6512_6514del (p.Arg2171del)
ClinVar dbSNP gnomAD v4
5g.112842951A=CA1573469752APCc.7411A= (p.Arg2471=)
c.*7363A= (n.*7363A=)
c.7303A= (p.Arg2435=)
c.7357A= (p.Arg2453=)
c.231-13698A=
c.7387A= (p.Arg2463=)
c.7282A= (p.Arg2428=)
c.7273A= (p.Arg2425=)
c.7234A= (p.Arg2412=)
c.7180A= (p.Arg2394=)
c.7084A= (p.Arg2362=)
c.7054A= (p.Arg2352=)
c.6979A= (p.Arg2327=)
c.6877A= (p.Arg2293=)
c.6508A= (p.Arg2170=)
5g.112842951A>CCA446210484APCc.7411A>C (p.Arg2471=)
c.*7363A>C (n.*7363A>C)
c.7303A>C (p.Arg2435=)
c.7357A>C (p.Arg2453=)
c.231-13698A>C
c.7387A>C (p.Arg2463=)
c.7282A>C (p.Arg2428=)
c.7273A>C (p.Arg2425=)
c.7234A>C (p.Arg2412=)
c.7180A>C (p.Arg2394=)
c.7084A>C (p.Arg2362=)
c.7054A>C (p.Arg2352=)
c.6979A>C (p.Arg2327=)
c.6877A>C (p.Arg2293=)
c.6508A>C (p.Arg2170=)
ClinVar dbSNP gnomAD v4
5g.112842951A>GCA16037352APCc.7411A>G (p.Arg2471Gly)
c.*7363A>G (n.*7363A>G)
c.7303A>G (p.Arg2435Gly)
c.7357A>G (p.Arg2453Gly)
c.231-13698A>G
c.7387A>G (p.Arg2463Gly)
c.7282A>G (p.Arg2428Gly)
c.7273A>G (p.Arg2425Gly)
c.7234A>G (p.Arg2412Gly)
c.7180A>G (p.Arg2394Gly)
c.7084A>G (p.Arg2362Gly)
c.7054A>G (p.Arg2352Gly)
c.6979A>G (p.Arg2327Gly)
c.6877A>G (p.Arg2293Gly)
c.6508A>G (p.Arg2170Gly)
5g.112842951A>TCA16037353APCc.7411A>T (p.Arg2471Ter)
c.*7363A>T (n.*7363A>T)
c.7303A>T (p.Arg2435Ter)
c.7357A>T (p.Arg2453Ter)
c.231-13698A>T
c.7387A>T (p.Arg2463Ter)
c.7282A>T (p.Arg2428Ter)
c.7273A>T (p.Arg2425Ter)
c.7234A>T (p.Arg2412Ter)
c.7180A>T (p.Arg2394Ter)
c.7084A>T (p.Arg2362Ter)
c.7054A>T (p.Arg2352Ter)
c.6979A>T (p.Arg2327Ter)
c.6877A>T (p.Arg2293Ter)
c.6508A>T (p.Arg2170Ter)
dbSNP
5g.112842952G>ACA16037354APCc.7412G>A (p.Arg2471Lys)
c.*7364G>A (n.*7364G>A)
c.7304G>A (p.Arg2435Lys)
c.7358G>A (p.Arg2453Lys)
c.231-13697G>A
c.7388G>A (p.Arg2463Lys)
c.7283G>A (p.Arg2428Lys)
c.7274G>A (p.Arg2425Lys)
c.7235G>A (p.Arg2412Lys)
c.7181G>A (p.Arg2394Lys)
c.7085G>A (p.Arg2362Lys)
c.7055G>A (p.Arg2352Lys)
c.6980G>A (p.Arg2327Lys)
c.6878G>A (p.Arg2293Lys)
c.6509G>A (p.Arg2170Lys)
ClinVar dbSNP gnomAD v4
5g.112842952G>CCA16037355APCc.7412G>C (p.Arg2471Thr)
c.*7364G>C (n.*7364G>C)
c.7304G>C (p.Arg2435Thr)
c.7358G>C (p.Arg2453Thr)
c.231-13697G>C
c.7388G>C (p.Arg2463Thr)
c.7283G>C (p.Arg2428Thr)
c.7274G>C (p.Arg2425Thr)
c.7235G>C (p.Arg2412Thr)
c.7181G>C (p.Arg2394Thr)
c.7085G>C (p.Arg2362Thr)
c.7055G>C (p.Arg2352Thr)
c.6980G>C (p.Arg2327Thr)
c.6878G>C (p.Arg2293Thr)
c.6509G>C (p.Arg2170Thr)
dbSNP
5g.112842952G=CA1573469761APCc.7412G= (p.Arg2471=)
c.*7364G= (n.*7364G=)
c.7304G= (p.Arg2435=)
c.7358G= (p.Arg2453=)
c.231-13697G=
c.7388G= (p.Arg2463=)
c.7283G= (p.Arg2428=)
c.7274G= (p.Arg2425=)
c.7235G= (p.Arg2412=)
c.7181G= (p.Arg2394=)
c.7085G= (p.Arg2362=)
c.7055G= (p.Arg2352=)
c.6980G= (p.Arg2327=)
c.6878G= (p.Arg2293=)
c.6509G= (p.Arg2170=)
5g.112842952G>TCA16037356APCc.7412G>T (p.Arg2471Ile)
c.*7364G>T (n.*7364G>T)
c.7304G>T (p.Arg2435Ile)
c.7358G>T (p.Arg2453Ile)
c.231-13697G>T
c.7388G>T (p.Arg2463Ile)
c.7283G>T (p.Arg2428Ile)
c.7274G>T (p.Arg2425Ile)
c.7235G>T (p.Arg2412Ile)
c.7181G>T (p.Arg2394Ile)
c.7085G>T (p.Arg2362Ile)
c.7055G>T (p.Arg2352Ile)
c.6980G>T (p.Arg2327Ile)
c.6878G>T (p.Arg2293Ile)
c.6509G>T (p.Arg2170Ile)
dbSNP
5g.112842953A>CCA16037357APCc.7413A>C (p.Arg2471Ser)
c.*7365A>C (n.*7365A>C)
c.7305A>C (p.Arg2435Ser)
c.7359A>C (p.Arg2453Ser)
c.231-13696A>C
c.7389A>C (p.Arg2463Ser)
c.7284A>C (p.Arg2428Ser)
c.7275A>C (p.Arg2425Ser)
c.7236A>C (p.Arg2412Ser)
c.7182A>C (p.Arg2394Ser)
c.7086A>C (p.Arg2362Ser)
c.7056A>C (p.Arg2352Ser)
c.6981A>C (p.Arg2327Ser)
c.6879A>C (p.Arg2293Ser)
c.6510A>C (p.Arg2170Ser)
5g.112842953A>GCA446210489APCc.7413A>G (p.Arg2471=)
c.*7365A>G (n.*7365A>G)
c.7305A>G (p.Arg2435=)
c.7359A>G (p.Arg2453=)
c.231-13696A>G
c.7389A>G (p.Arg2463=)
c.7284A>G (p.Arg2428=)
c.7275A>G (p.Arg2425=)
c.7236A>G (p.Arg2412=)
c.7182A>G (p.Arg2394=)
c.7086A>G (p.Arg2362=)
c.7056A>G (p.Arg2352=)
c.6981A>G (p.Arg2327=)
c.6879A>G (p.Arg2293=)
c.6510A>G (p.Arg2170=)
dbSNP
5g.112842953A>TCA16037358APCc.7413A>T (p.Arg2471Ser)
c.*7365A>T (n.*7365A>T)
c.7305A>T (p.Arg2435Ser)
c.7359A>T (p.Arg2453Ser)
c.231-13696A>T
c.7389A>T (p.Arg2463Ser)
c.7284A>T (p.Arg2428Ser)
c.7275A>T (p.Arg2425Ser)
c.7236A>T (p.Arg2412Ser)
c.7182A>T (p.Arg2394Ser)
c.7086A>T (p.Arg2362Ser)
c.7056A>T (p.Arg2352Ser)
c.6981A>T (p.Arg2327Ser)
c.6879A>T (p.Arg2293Ser)
c.6510A>T (p.Arg2170Ser)
dbSNP
5g.112842954A>CCA446210491APCc.7414A>C (p.Arg2472=)
c.*7366A>C (n.*7366A>C)
c.7306A>C (p.Arg2436=)
c.7360A>C (p.Arg2454=)
c.231-13695A>C
c.7390A>C (p.Arg2464=)
c.7285A>C (p.Arg2429=)
c.7276A>C (p.Arg2426=)
c.7237A>C (p.Arg2413=)
c.7183A>C (p.Arg2395=)
c.7087A>C (p.Arg2363=)
c.7057A>C (p.Arg2353=)
c.6982A>C (p.Arg2328=)
c.6880A>C (p.Arg2294=)
c.6511A>C (p.Arg2171=)
5g.112842954A>GCA16037359APCc.7414A>G (p.Arg2472Gly)
c.*7366A>G (n.*7366A>G)
c.7306A>G (p.Arg2436Gly)
c.7360A>G (p.Arg2454Gly)
c.231-13695A>G
c.7390A>G (p.Arg2464Gly)
c.7285A>G (p.Arg2429Gly)
c.7276A>G (p.Arg2426Gly)
c.7237A>G (p.Arg2413Gly)
c.7183A>G (p.Arg2395Gly)
c.7087A>G (p.Arg2363Gly)
c.7057A>G (p.Arg2353Gly)
c.6982A>G (p.Arg2328Gly)
c.6880A>G (p.Arg2294Gly)
c.6511A>G (p.Arg2171Gly)
ClinVar
5g.112842954A>TCA16037360APCc.7414A>T (p.Arg2472Ter)
c.*7366A>T (n.*7366A>T)
c.7306A>T (p.Arg2436Ter)
c.7360A>T (p.Arg2454Ter)
c.231-13695A>T
c.7390A>T (p.Arg2464Ter)
c.7285A>T (p.Arg2429Ter)
c.7276A>T (p.Arg2426Ter)
c.7237A>T (p.Arg2413Ter)
c.7183A>T (p.Arg2395Ter)
c.7087A>T (p.Arg2363Ter)
c.7057A>T (p.Arg2353Ter)
c.6982A>T (p.Arg2328Ter)
c.6880A>T (p.Arg2294Ter)
c.6511A>T (p.Arg2171Ter)
dbSNP
5g.112842955G>ACA16037361APCc.7415G>A (p.Arg2472Lys)
c.*7367G>A (n.*7367G>A)
c.7307G>A (p.Arg2436Lys)
c.7361G>A (p.Arg2454Lys)
c.231-13694G>A
c.7391G>A (p.Arg2464Lys)
c.7286G>A (p.Arg2429Lys)
c.7277G>A (p.Arg2426Lys)
c.7238G>A (p.Arg2413Lys)
c.7184G>A (p.Arg2395Lys)
c.7088G>A (p.Arg2363Lys)
c.7058G>A (p.Arg2353Lys)
c.6983G>A (p.Arg2328Lys)
c.6881G>A (p.Arg2294Lys)
c.6512G>A (p.Arg2171Lys)
dbSNP
5g.112842955G>CCA16037362APCc.7415G>C (p.Arg2472Thr)
c.*7367G>C (n.*7367G>C)
c.7307G>C (p.Arg2436Thr)
c.7361G>C (p.Arg2454Thr)
c.231-13694G>C
c.7391G>C (p.Arg2464Thr)
c.7286G>C (p.Arg2429Thr)
c.7277G>C (p.Arg2426Thr)
c.7238G>C (p.Arg2413Thr)
c.7184G>C (p.Arg2395Thr)
c.7088G>C (p.Arg2363Thr)
c.7058G>C (p.Arg2353Thr)
c.6983G>C (p.Arg2328Thr)
c.6881G>C (p.Arg2294Thr)
c.6512G>C (p.Arg2171Thr)
dbSNP
5g.112842955G=CA1573469775APCc.7415G= (p.Arg2472=)
c.*7367G= (n.*7367G=)
c.7307G= (p.Arg2436=)
c.7361G= (p.Arg2454=)
c.231-13694G=
c.7391G= (p.Arg2464=)
c.7286G= (p.Arg2429=)
c.7277G= (p.Arg2426=)
c.7238G= (p.Arg2413=)
c.7184G= (p.Arg2395=)
c.7088G= (p.Arg2363=)
c.7058G= (p.Arg2353=)
c.6983G= (p.Arg2328=)
c.6881G= (p.Arg2294=)
c.6512G= (p.Arg2171=)
5g.112842955G>TCA16037363APCc.7415G>T (p.Arg2472Ile)
c.*7367G>T (n.*7367G>T)
c.7307G>T (p.Arg2436Ile)
c.7361G>T (p.Arg2454Ile)
c.231-13694G>T
c.7391G>T (p.Arg2464Ile)
c.7286G>T (p.Arg2429Ile)
c.7277G>T (p.Arg2426Ile)
c.7238G>T (p.Arg2413Ile)
c.7184G>T (p.Arg2395Ile)
c.7088G>T (p.Arg2363Ile)
c.7058G>T (p.Arg2353Ile)
c.6983G>T (p.Arg2328Ile)
c.6881G>T (p.Arg2294Ile)
c.6512G>T (p.Arg2171Ile)
5g.112842956A>CCA16037364APCc.7416A>C (p.Arg2472Ser)
c.*7368A>C (n.*7368A>C)
c.7308A>C (p.Arg2436Ser)
c.7362A>C (p.Arg2454Ser)
c.231-13693A>C
c.7392A>C (p.Arg2464Ser)
c.7287A>C (p.Arg2429Ser)
c.7278A>C (p.Arg2426Ser)
c.7239A>C (p.Arg2413Ser)
c.7185A>C (p.Arg2395Ser)
c.7089A>C (p.Arg2363Ser)
c.7059A>C (p.Arg2353Ser)
c.6984A>C (p.Arg2328Ser)
c.6882A>C (p.Arg2294Ser)
c.6513A>C (p.Arg2171Ser)
5g.112842956A>GCA446210495APCc.7416A>G (p.Arg2472=)
c.*7368A>G (n.*7368A>G)
c.7308A>G (p.Arg2436=)
c.7362A>G (p.Arg2454=)
c.231-13693A>G
c.7392A>G (p.Arg2464=)
c.7287A>G (p.Arg2429=)
c.7278A>G (p.Arg2426=)
c.7239A>G (p.Arg2413=)
c.7185A>G (p.Arg2395=)
c.7089A>G (p.Arg2363=)
c.7059A>G (p.Arg2353=)
c.6984A>G (p.Arg2328=)
c.6882A>G (p.Arg2294=)
c.6513A>G (p.Arg2171=)
ClinVar
5g.112842956A>TCA16037365APCc.7416A>T (p.Arg2472Ser)
c.*7368A>T (n.*7368A>T)
c.7308A>T (p.Arg2436Ser)
c.7362A>T (p.Arg2454Ser)
c.231-13693A>T
c.7392A>T (p.Arg2464Ser)
c.7287A>T (p.Arg2429Ser)
c.7278A>T (p.Arg2426Ser)
c.7239A>T (p.Arg2413Ser)
c.7185A>T (p.Arg2395Ser)
c.7089A>T (p.Arg2363Ser)
c.7059A>T (p.Arg2353Ser)
c.6984A>T (p.Arg2328Ser)
c.6882A>T (p.Arg2294Ser)
c.6513A>T (p.Arg2171Ser)
dbSNP
5g.112842959delCA446210497APCc.7419del (p.Lys2473AsnfsTer30)
c.*7371del (n.*7371del)
c.7311del (p.Lys2437AsnfsTer30)
c.7365del (p.Lys2455AsnfsTer30)
c.231-13690del
c.7395del (p.Lys2465AsnfsTer30)
c.7290del (p.Lys2430AsnfsTer30)
c.7281del (p.Lys2427AsnfsTer30)
c.7242del (p.Lys2414AsnfsTer30)
c.7188del (p.Lys2396AsnfsTer30)
c.7092del (p.Lys2364AsnfsTer30)
c.7062del (p.Lys2354AsnfsTer30)
c.6987del (p.Lys2329AsnfsTer30)
c.6885del (p.Lys2295AsnfsTer30)
c.6516del (p.Lys2172AsnfsTer30)
COSMIC
5g.112842957A=CA1573469784APCc.7417A= (p.Lys2473=)
c.*7369A= (n.*7369A=)
c.7309A= (p.Lys2437=)
c.7363A= (p.Lys2455=)
c.231-13692A=
c.7393A= (p.Lys2465=)
c.7288A= (p.Lys2430=)
c.7279A= (p.Lys2427=)
c.7240A= (p.Lys2414=)
c.7186A= (p.Lys2396=)
c.7090A= (p.Lys2364=)
c.7060A= (p.Lys2354=)
c.6985A= (p.Lys2329=)
c.6883A= (p.Lys2295=)
c.6514A= (p.Lys2172=)
5g.112842957A>CCA16037366APCc.7417A>C (p.Lys2473Gln)
c.*7369A>C (n.*7369A>C)
c.7309A>C (p.Lys2437Gln)
c.7363A>C (p.Lys2455Gln)
c.231-13692A>C
c.7393A>C (p.Lys2465Gln)
c.7288A>C (p.Lys2430Gln)
c.7279A>C (p.Lys2427Gln)
c.7240A>C (p.Lys2414Gln)
c.7186A>C (p.Lys2396Gln)
c.7090A>C (p.Lys2364Gln)
c.7060A>C (p.Lys2354Gln)
c.6985A>C (p.Lys2329Gln)
c.6883A>C (p.Lys2295Gln)
c.6514A>C (p.Lys2172Gln)
ClinVar dbSNP
5g.112842957A>GCA16037367APCc.7417A>G (p.Lys2473Glu)
c.*7369A>G (n.*7369A>G)
c.7309A>G (p.Lys2437Glu)
c.7363A>G (p.Lys2455Glu)
c.231-13692A>G
c.7393A>G (p.Lys2465Glu)
c.7288A>G (p.Lys2430Glu)
c.7279A>G (p.Lys2427Glu)
c.7240A>G (p.Lys2414Glu)
c.7186A>G (p.Lys2396Glu)
c.7090A>G (p.Lys2364Glu)
c.7060A>G (p.Lys2354Glu)
c.6985A>G (p.Lys2329Glu)
c.6883A>G (p.Lys2295Glu)
c.6514A>G (p.Lys2172Glu)
5g.112842957A>TCA16037368APCc.7417A>T (p.Lys2473Ter)
c.*7369A>T (n.*7369A>T)
c.7309A>T (p.Lys2437Ter)
c.7363A>T (p.Lys2455Ter)
c.231-13692A>T
c.7393A>T (p.Lys2465Ter)
c.7288A>T (p.Lys2430Ter)
c.7279A>T (p.Lys2427Ter)
c.7240A>T (p.Lys2414Ter)
c.7186A>T (p.Lys2396Ter)
c.7090A>T (p.Lys2364Ter)
c.7060A>T (p.Lys2354Ter)
c.6985A>T (p.Lys2329Ter)
c.6883A>T (p.Lys2295Ter)
c.6514A>T (p.Lys2172Ter)
dbSNP
5g.112842958A>CCA16037369APCc.7418A>C (p.Lys2473Thr)
c.*7370A>C (n.*7370A>C)
c.7310A>C (p.Lys2437Thr)
c.7364A>C (p.Lys2455Thr)
c.231-13691A>C
c.7394A>C (p.Lys2465Thr)
c.7289A>C (p.Lys2430Thr)
c.7280A>C (p.Lys2427Thr)
c.7241A>C (p.Lys2414Thr)
c.7187A>C (p.Lys2396Thr)
c.7091A>C (p.Lys2364Thr)
c.7061A>C (p.Lys2354Thr)
c.6986A>C (p.Lys2329Thr)
c.6884A>C (p.Lys2295Thr)
c.6515A>C (p.Lys2172Thr)
5g.112842958A>GCA16037370APCc.7418A>G (p.Lys2473Arg)
c.*7370A>G (n.*7370A>G)
c.7310A>G (p.Lys2437Arg)
c.7364A>G (p.Lys2455Arg)
c.231-13691A>G
c.7394A>G (p.Lys2465Arg)
c.7289A>G (p.Lys2430Arg)
c.7280A>G (p.Lys2427Arg)
c.7241A>G (p.Lys2414Arg)
c.7187A>G (p.Lys2396Arg)
c.7091A>G (p.Lys2364Arg)
c.7061A>G (p.Lys2354Arg)
c.6986A>G (p.Lys2329Arg)
c.6884A>G (p.Lys2295Arg)
c.6515A>G (p.Lys2172Arg)
5g.112842958A>TCA16037371APCc.7418A>T (p.Lys2473Ile)
c.*7370A>T (n.*7370A>T)
c.7310A>T (p.Lys2437Ile)
c.7364A>T (p.Lys2455Ile)
c.231-13691A>T
c.7394A>T (p.Lys2465Ile)
c.7289A>T (p.Lys2430Ile)
c.7280A>T (p.Lys2427Ile)
c.7241A>T (p.Lys2414Ile)
c.7187A>T (p.Lys2396Ile)
c.7091A>T (p.Lys2364Ile)
c.7061A>T (p.Lys2354Ile)
c.6986A>T (p.Lys2329Ile)
c.6884A>T (p.Lys2295Ile)
c.6515A>T (p.Lys2172Ile)
ClinVar dbSNP
5g.112842959A>CCA16037372APCc.7419A>C (p.Lys2473Asn)
c.*7371A>C (n.*7371A>C)
c.7311A>C (p.Lys2437Asn)
c.7365A>C (p.Lys2455Asn)
c.231-13690A>C
c.7395A>C (p.Lys2465Asn)
c.7290A>C (p.Lys2430Asn)
c.7281A>C (p.Lys2427Asn)
c.7242A>C (p.Lys2414Asn)
c.7188A>C (p.Lys2396Asn)
c.7092A>C (p.Lys2364Asn)
c.7062A>C (p.Lys2354Asn)
c.6987A>C (p.Lys2329Asn)
c.6885A>C (p.Lys2295Asn)
c.6516A>C (p.Lys2172Asn)
dbSNP
5g.112842959A>GCA446210505APCc.7419A>G (p.Lys2473=)
c.*7371A>G (n.*7371A>G)
c.7311A>G (p.Lys2437=)
c.7365A>G (p.Lys2455=)
c.231-13690A>G
c.7395A>G (p.Lys2465=)
c.7290A>G (p.Lys2430=)
c.7281A>G (p.Lys2427=)
c.7242A>G (p.Lys2414=)
c.7188A>G (p.Lys2396=)
c.7092A>G (p.Lys2364=)
c.7062A>G (p.Lys2354=)
c.6987A>G (p.Lys2329=)
c.6885A>G (p.Lys2295=)
c.6516A>G (p.Lys2172=)
ClinVar dbSNP
5g.112842959A>TCA16037373APCc.7419A>T (p.Lys2473Asn)
c.*7371A>T (n.*7371A>T)
c.7311A>T (p.Lys2437Asn)
c.7365A>T (p.Lys2455Asn)
c.231-13690A>T
c.7395A>T (p.Lys2465Asn)
c.7290A>T (p.Lys2430Asn)
c.7281A>T (p.Lys2427Asn)
c.7242A>T (p.Lys2414Asn)
c.7188A>T (p.Lys2396Asn)
c.7092A>T (p.Lys2364Asn)
c.7062A>T (p.Lys2354Asn)
c.6987A>T (p.Lys2329Asn)
c.6885A>T (p.Lys2295Asn)
c.6516A>T (p.Lys2172Asn)
dbSNP
5g.112842960T>ACA16037374APCc.7420T>A (p.Leu2474Met)
c.*7372T>A (n.*7372T>A)
c.7312T>A (p.Leu2438Met)
c.7366T>A (p.Leu2456Met)
c.231-13689T>A
c.7396T>A (p.Leu2466Met)
c.7291T>A (p.Leu2431Met)
c.7282T>A (p.Leu2428Met)
c.7243T>A (p.Leu2415Met)
c.7189T>A (p.Leu2397Met)
c.7093T>A (p.Leu2365Met)
c.7063T>A (p.Leu2355Met)
c.6988T>A (p.Leu2330Met)
c.6886T>A (p.Leu2296Met)
c.6517T>A (p.Leu2173Met)
ClinVar dbSNP gnomAD v2
5g.112842960T>CCA446210507APCc.7420T>C (p.Leu2474=)
c.*7372T>C (n.*7372T>C)
c.7312T>C (p.Leu2438=)
c.7366T>C (p.Leu2456=)
c.231-13689T>C
c.7396T>C (p.Leu2466=)
c.7291T>C (p.Leu2431=)
c.7282T>C (p.Leu2428=)
c.7243T>C (p.Leu2415=)
c.7189T>C (p.Leu2397=)
c.7093T>C (p.Leu2365=)
c.7063T>C (p.Leu2355=)
c.6988T>C (p.Leu2330=)
c.6886T>C (p.Leu2296=)
c.6517T>C (p.Leu2173=)
ClinVar gnomAD v4
5g.112842960T>GCA16037375APCc.7420T>G (p.Leu2474Val)
c.*7372T>G (n.*7372T>G)
c.7312T>G (p.Leu2438Val)
c.7366T>G (p.Leu2456Val)
c.231-13689T>G
c.7396T>G (p.Leu2466Val)
c.7291T>G (p.Leu2431Val)
c.7282T>G (p.Leu2428Val)
c.7243T>G (p.Leu2415Val)
c.7189T>G (p.Leu2397Val)
c.7093T>G (p.Leu2365Val)
c.7063T>G (p.Leu2355Val)
c.6988T>G (p.Leu2330Val)
c.6886T>G (p.Leu2296Val)
c.6517T>G (p.Leu2173Val)
ClinVar dbSNP
5g.112842960T=CA1573469800APCc.7420T= (p.Leu2474=)
c.*7372T= (n.*7372T=)
c.7312T= (p.Leu2438=)
c.7366T= (p.Leu2456=)
c.231-13689T=
c.7396T= (p.Leu2466=)
c.7291T= (p.Leu2431=)
c.7282T= (p.Leu2428=)
c.7243T= (p.Leu2415=)
c.7189T= (p.Leu2397=)
c.7093T= (p.Leu2365=)
c.7063T= (p.Leu2355=)
c.6988T= (p.Leu2330=)
c.6886T= (p.Leu2296=)
c.6517T= (p.Leu2173=)
5g.112842961T>ACA16037376APCc.7421T>A (p.Leu2474Ter)
c.*7373T>A (n.*7373T>A)
c.7313T>A (p.Leu2438Ter)
c.7367T>A (p.Leu2456Ter)
c.231-13688T>A
c.7397T>A (p.Leu2466Ter)
c.7292T>A (p.Leu2431Ter)
c.7283T>A (p.Leu2428Ter)
c.7244T>A (p.Leu2415Ter)
c.7190T>A (p.Leu2397Ter)
c.7094T>A (p.Leu2365Ter)
c.7064T>A (p.Leu2355Ter)
c.6989T>A (p.Leu2330Ter)
c.6887T>A (p.Leu2296Ter)
c.6518T>A (p.Leu2173Ter)
5g.112842961T>CCA16037377APCc.7421T>C (p.Leu2474Ser)
c.*7373T>C (n.*7373T>C)
c.7313T>C (p.Leu2438Ser)
c.7367T>C (p.Leu2456Ser)
c.231-13688T>C
c.7397T>C (p.Leu2466Ser)
c.7292T>C (p.Leu2431Ser)
c.7283T>C (p.Leu2428Ser)
c.7244T>C (p.Leu2415Ser)
c.7190T>C (p.Leu2397Ser)
c.7094T>C (p.Leu2365Ser)
c.7064T>C (p.Leu2355Ser)
c.6989T>C (p.Leu2330Ser)
c.6887T>C (p.Leu2296Ser)
c.6518T>C (p.Leu2173Ser)
ClinVar
5g.112842961T>GCA16037378APCc.7421T>G (p.Leu2474Trp)
c.*7373T>G (n.*7373T>G)
c.7313T>G (p.Leu2438Trp)
c.7367T>G (p.Leu2456Trp)
c.231-13688T>G
c.7397T>G (p.Leu2466Trp)
c.7292T>G (p.Leu2431Trp)
c.7283T>G (p.Leu2428Trp)
c.7244T>G (p.Leu2415Trp)
c.7190T>G (p.Leu2397Trp)
c.7094T>G (p.Leu2365Trp)
c.7064T>G (p.Leu2355Trp)
c.6989T>G (p.Leu2330Trp)
c.6887T>G (p.Leu2296Trp)
c.6518T>G (p.Leu2173Trp)
dbSNP
5g.112842961T=CA1573469814APCc.7421T= (p.Leu2474=)
c.*7373T= (n.*7373T=)
c.7313T= (p.Leu2438=)
c.7367T= (p.Leu2456=)
c.231-13688T=
c.7397T= (p.Leu2466=)
c.7292T= (p.Leu2431=)
c.7283T= (p.Leu2428=)
c.7244T= (p.Leu2415=)
c.7190T= (p.Leu2397=)
c.7094T= (p.Leu2365=)
c.7064T= (p.Leu2355=)
c.6989T= (p.Leu2330=)
c.6887T= (p.Leu2296=)
c.6518T= (p.Leu2173=)
5g.112842962G>ACA446210510APCc.7422G>A (p.Leu2474=)
c.*7374G>A (n.*7374G>A)
c.7314G>A (p.Leu2438=)
c.7368G>A (p.Leu2456=)
c.231-13687G>A
c.7398G>A (p.Leu2466=)
c.7293G>A (p.Leu2431=)
c.7284G>A (p.Leu2428=)
c.7245G>A (p.Leu2415=)
c.7191G>A (p.Leu2397=)
c.7095G>A (p.Leu2365=)
c.7065G>A (p.Leu2355=)
c.6990G>A (p.Leu2330=)
c.6888G>A (p.Leu2296=)
c.6519G>A (p.Leu2173=)
ClinVar dbSNP gnomAD v4
5g.112842962G>CCA16037379APCc.7422G>C (p.Leu2474Phe)
c.*7374G>C (n.*7374G>C)
c.7314G>C (p.Leu2438Phe)
c.7368G>C (p.Leu2456Phe)
c.231-13687G>C
c.7398G>C (p.Leu2466Phe)
c.7293G>C (p.Leu2431Phe)
c.7284G>C (p.Leu2428Phe)
c.7245G>C (p.Leu2415Phe)
c.7191G>C (p.Leu2397Phe)
c.7095G>C (p.Leu2365Phe)
c.7065G>C (p.Leu2355Phe)
c.6990G>C (p.Leu2330Phe)
c.6888G>C (p.Leu2296Phe)
c.6519G>C (p.Leu2173Phe)
ClinVar
5g.112842962G>TCA16037380APCc.7422G>T (p.Leu2474Phe)
c.*7374G>T (n.*7374G>T)
c.7314G>T (p.Leu2438Phe)
c.7368G>T (p.Leu2456Phe)
c.231-13687G>T
c.7398G>T (p.Leu2466Phe)
c.7293G>T (p.Leu2431Phe)
c.7284G>T (p.Leu2428Phe)
c.7245G>T (p.Leu2415Phe)
c.7191G>T (p.Leu2397Phe)
c.7095G>T (p.Leu2365Phe)
c.7065G>T (p.Leu2355Phe)
c.6990G>T (p.Leu2330Phe)
c.6888G>T (p.Leu2296Phe)
c.6519G>T (p.Leu2173Phe)
ClinVar
5g.112842963G>ACA16037381APCc.7423G>A (p.Glu2475Lys)
c.*7375G>A (n.*7375G>A)
c.7315G>A (p.Glu2439Lys)
c.7369G>A (p.Glu2457Lys)
c.231-13686G>A
c.7399G>A (p.Glu2467Lys)
c.7294G>A (p.Glu2432Lys)
c.7285G>A (p.Glu2429Lys)
c.7246G>A (p.Glu2416Lys)
c.7192G>A (p.Glu2398Lys)
c.7096G>A (p.Glu2366Lys)
c.7066G>A (p.Glu2356Lys)
c.6991G>A (p.Glu2331Lys)
c.6889G>A (p.Glu2297Lys)
c.6520G>A (p.Glu2174Lys)
dbSNP gnomAD v4
5g.112842963G>CCA16037382APCc.7423G>C (p.Glu2475Gln)
c.*7375G>C (n.*7375G>C)
c.7315G>C (p.Glu2439Gln)
c.7369G>C (p.Glu2457Gln)
c.231-13686G>C
c.7399G>C (p.Glu2467Gln)
c.7294G>C (p.Glu2432Gln)
c.7285G>C (p.Glu2429Gln)
c.7246G>C (p.Glu2416Gln)
c.7192G>C (p.Glu2398Gln)
c.7096G>C (p.Glu2366Gln)
c.7066G>C (p.Glu2356Gln)
c.6991G>C (p.Glu2331Gln)
c.6889G>C (p.Glu2297Gln)
c.6520G>C (p.Glu2174Gln)
dbSNP
5g.112842963G=CA1573469822APCc.7423G= (p.Glu2475=)
c.*7375G= (n.*7375G=)
c.7315G= (p.Glu2439=)
c.7369G= (p.Glu2457=)
c.231-13686G=
c.7399G= (p.Glu2467=)
c.7294G= (p.Glu2432=)
c.7285G= (p.Glu2429=)
c.7246G= (p.Glu2416=)
c.7192G= (p.Glu2398=)
c.7096G= (p.Glu2366=)
c.7066G= (p.Glu2356=)
c.6991G= (p.Glu2331=)
c.6889G= (p.Glu2297=)
c.6520G= (p.Glu2174=)
5g.112842963G>TCA16037383APCc.7423G>T (p.Glu2475Ter)
c.*7375G>T (n.*7375G>T)
c.7315G>T (p.Glu2439Ter)
c.7369G>T (p.Glu2457Ter)
c.231-13686G>T
c.7399G>T (p.Glu2467Ter)
c.7294G>T (p.Glu2432Ter)
c.7285G>T (p.Glu2429Ter)
c.7246G>T (p.Glu2416Ter)
c.7192G>T (p.Glu2398Ter)
c.7096G>T (p.Glu2366Ter)
c.7066G>T (p.Glu2356Ter)
c.6991G>T (p.Glu2331Ter)
c.6889G>T (p.Glu2297Ter)
c.6520G>T (p.Glu2174Ter)
dbSNP
5g.112842964A=CA1573469829APCc.7424A= (p.Glu2475=)
c.*7376A= (n.*7376A=)
c.7316A= (p.Glu2439=)
c.7370A= (p.Glu2457=)
c.231-13685A=
c.7400A= (p.Glu2467=)
c.7295A= (p.Glu2432=)
c.7286A= (p.Glu2429=)
c.7247A= (p.Glu2416=)
c.7193A= (p.Glu2398=)
c.7097A= (p.Glu2366=)
c.7067A= (p.Glu2356=)
c.6992A= (p.Glu2331=)
c.6890A= (p.Glu2297=)
c.6521A= (p.Glu2174=)
5g.112842964A>CCA16037384APCc.7424A>C (p.Glu2475Ala)
c.*7376A>C (n.*7376A>C)
c.7316A>C (p.Glu2439Ala)
c.7370A>C (p.Glu2457Ala)
c.231-13685A>C
c.7400A>C (p.Glu2467Ala)
c.7295A>C (p.Glu2432Ala)
c.7286A>C (p.Glu2429Ala)
c.7247A>C (p.Glu2416Ala)
c.7193A>C (p.Glu2398Ala)
c.7097A>C (p.Glu2366Ala)
c.7067A>C (p.Glu2356Ala)
c.6992A>C (p.Glu2331Ala)
c.6890A>C (p.Glu2297Ala)
c.6521A>C (p.Glu2174Ala)
ClinVar dbSNP
5g.112842964A>GCA16037385APCc.7424A>G (p.Glu2475Gly)
c.*7376A>G (n.*7376A>G)
c.7316A>G (p.Glu2439Gly)
c.7370A>G (p.Glu2457Gly)
c.231-13685A>G
c.7400A>G (p.Glu2467Gly)
c.7295A>G (p.Glu2432Gly)
c.7286A>G (p.Glu2429Gly)
c.7247A>G (p.Glu2416Gly)
c.7193A>G (p.Glu2398Gly)
c.7097A>G (p.Glu2366Gly)
c.7067A>G (p.Glu2356Gly)
c.6992A>G (p.Glu2331Gly)
c.6890A>G (p.Glu2297Gly)
c.6521A>G (p.Glu2174Gly)
COSMIC
5g.112842964A>TCA16037386APCc.7424A>T (p.Glu2475Val)
c.*7376A>T (n.*7376A>T)
c.7316A>T (p.Glu2439Val)
c.7370A>T (p.Glu2457Val)
c.231-13685A>T
c.7400A>T (p.Glu2467Val)
c.7295A>T (p.Glu2432Val)
c.7286A>T (p.Glu2429Val)
c.7247A>T (p.Glu2416Val)
c.7193A>T (p.Glu2398Val)
c.7097A>T (p.Glu2366Val)
c.7067A>T (p.Glu2356Val)
c.6992A>T (p.Glu2331Val)
c.6890A>T (p.Glu2297Val)
c.6521A>T (p.Glu2174Val)
5g.112842965G>ACA446210516APCc.7425G>A (p.Glu2475=)
c.*7377G>A (n.*7377G>A)
c.7317G>A (p.Glu2439=)
c.7371G>A (p.Glu2457=)
c.231-13684G>A
c.7401G>A (p.Glu2467=)
c.7296G>A (p.Glu2432=)
c.7287G>A (p.Glu2429=)
c.7248G>A (p.Glu2416=)
c.7194G>A (p.Glu2398=)
c.7098G>A (p.Glu2366=)
c.7068G>A (p.Glu2356=)
c.6993G>A (p.Glu2331=)
c.6891G>A (p.Glu2297=)
c.6522G>A (p.Glu2174=)
dbSNP
5g.112842965G>CCA16037387APCc.7425G>C (p.Glu2475Asp)
c.*7377G>C (n.*7377G>C)
c.7317G>C (p.Glu2439Asp)
c.7371G>C (p.Glu2457Asp)
c.231-13684G>C
c.7401G>C (p.Glu2467Asp)
c.7296G>C (p.Glu2432Asp)
c.7287G>C (p.Glu2429Asp)
c.7248G>C (p.Glu2416Asp)
c.7194G>C (p.Glu2398Asp)
c.7098G>C (p.Glu2366Asp)
c.7068G>C (p.Glu2356Asp)
c.6993G>C (p.Glu2331Asp)
c.6891G>C (p.Glu2297Asp)
c.6522G>C (p.Glu2174Asp)
dbSNP
5g.112842965G>TCA16037388APCc.7425G>T (p.Glu2475Asp)
c.*7377G>T (n.*7377G>T)
c.7317G>T (p.Glu2439Asp)
c.7371G>T (p.Glu2457Asp)
c.231-13684G>T
c.7401G>T (p.Glu2467Asp)
c.7296G>T (p.Glu2432Asp)
c.7287G>T (p.Glu2429Asp)
c.7248G>T (p.Glu2416Asp)
c.7194G>T (p.Glu2398Asp)
c.7098G>T (p.Glu2366Asp)
c.7068G>T (p.Glu2356Asp)
c.6993G>T (p.Glu2331Asp)
c.6891G>T (p.Glu2297Asp)
c.6522G>T (p.Glu2174Asp)
5g.112842966G>ACA16037389APCc.7426G>A (p.Glu2476Lys)
c.*7378G>A (n.*7378G>A)
c.7318G>A (p.Glu2440Lys)
c.7372G>A (p.Glu2458Lys)
c.231-13683G>A
c.7402G>A (p.Glu2468Lys)
c.7297G>A (p.Glu2433Lys)
c.7288G>A (p.Glu2430Lys)
c.7249G>A (p.Glu2417Lys)
c.7195G>A (p.Glu2399Lys)
c.7099G>A (p.Glu2367Lys)
c.7069G>A (p.Glu2357Lys)
c.6994G>A (p.Glu2332Lys)
c.6892G>A (p.Glu2298Lys)
c.6523G>A (p.Glu2175Lys)
dbSNP
5g.112842966G>CCA16037390APCc.7426G>C (p.Glu2476Gln)
c.*7378G>C (n.*7378G>C)
c.7318G>C (p.Glu2440Gln)
c.7372G>C (p.Glu2458Gln)
c.231-13683G>C
c.7402G>C (p.Glu2468Gln)
c.7297G>C (p.Glu2433Gln)
c.7288G>C (p.Glu2430Gln)
c.7249G>C (p.Glu2417Gln)
c.7195G>C (p.Glu2399Gln)
c.7099G>C (p.Glu2367Gln)
c.7069G>C (p.Glu2357Gln)
c.6994G>C (p.Glu2332Gln)
c.6892G>C (p.Glu2298Gln)
c.6523G>C (p.Glu2175Gln)
dbSNP
5g.112842966G>TCA16037391APCc.7426G>T (p.Glu2476Ter)
c.*7378G>T (n.*7378G>T)
c.7318G>T (p.Glu2440Ter)
c.7372G>T (p.Glu2458Ter)
c.231-13683G>T
c.7402G>T (p.Glu2468Ter)
c.7297G>T (p.Glu2433Ter)
c.7288G>T (p.Glu2430Ter)
c.7249G>T (p.Glu2417Ter)
c.7195G>T (p.Glu2399Ter)
c.7099G>T (p.Glu2367Ter)
c.7069G>T (p.Glu2357Ter)
c.6994G>T (p.Glu2332Ter)
c.6892G>T (p.Glu2298Ter)
c.6523G>T (p.Glu2175Ter)
dbSNP
5g.112842967A>CCA16037392APCc.7427A>C (p.Glu2476Ala)
c.*7379A>C (n.*7379A>C)
c.7319A>C (p.Glu2440Ala)
c.7373A>C (p.Glu2458Ala)
c.231-13682A>C
c.7403A>C (p.Glu2468Ala)
c.7298A>C (p.Glu2433Ala)
c.7289A>C (p.Glu2430Ala)
c.7250A>C (p.Glu2417Ala)
c.7196A>C (p.Glu2399Ala)
c.7100A>C (p.Glu2367Ala)
c.7070A>C (p.Glu2357Ala)
c.6995A>C (p.Glu2332Ala)
c.6893A>C (p.Glu2298Ala)
c.6524A>C (p.Glu2175Ala)
5g.112842967A>GCA16037393APCc.7427A>G (p.Glu2476Gly)
c.*7379A>G (n.*7379A>G)
c.7319A>G (p.Glu2440Gly)
c.7373A>G (p.Glu2458Gly)
c.231-13682A>G
c.7403A>G (p.Glu2468Gly)
c.7298A>G (p.Glu2433Gly)
c.7289A>G (p.Glu2430Gly)
c.7250A>G (p.Glu2417Gly)
c.7196A>G (p.Glu2399Gly)
c.7100A>G (p.Glu2367Gly)
c.7070A>G (p.Glu2357Gly)
c.6995A>G (p.Glu2332Gly)
c.6893A>G (p.Glu2298Gly)
c.6524A>G (p.Glu2175Gly)
dbSNP
5g.112842967A>TCA16037394APCc.7427A>T (p.Glu2476Val)
c.*7379A>T (n.*7379A>T)
c.7319A>T (p.Glu2440Val)
c.7373A>T (p.Glu2458Val)
c.231-13682A>T
c.7403A>T (p.Glu2468Val)
c.7298A>T (p.Glu2433Val)
c.7289A>T (p.Glu2430Val)
c.7250A>T (p.Glu2417Val)
c.7196A>T (p.Glu2399Val)
c.7100A>T (p.Glu2367Val)
c.7070A>T (p.Glu2357Val)
c.6995A>T (p.Glu2332Val)
c.6893A>T (p.Glu2298Val)
c.6524A>T (p.Glu2175Val)
dbSNP COSMIC
5g.112842968A=CA1573469837APCc.7428A= (p.Glu2476=)
c.*7380A= (n.*7380A=)
c.7320A= (p.Glu2440=)
c.7374A= (p.Glu2458=)
c.231-13681A=
c.7404A= (p.Glu2468=)
c.7299A= (p.Glu2433=)
c.7290A= (p.Glu2430=)
c.7251A= (p.Glu2417=)
c.7197A= (p.Glu2399=)
c.7101A= (p.Glu2367=)
c.7071A= (p.Glu2357=)
c.6996A= (p.Glu2332=)
c.6894A= (p.Glu2298=)
c.6525A= (p.Glu2175=)
5g.112842968A>CCA16037395APCc.7428A>C (p.Glu2476Asp)
c.*7380A>C (n.*7380A>C)
c.7320A>C (p.Glu2440Asp)
c.7374A>C (p.Glu2458Asp)
c.231-13681A>C
c.7404A>C (p.Glu2468Asp)
c.7299A>C (p.Glu2433Asp)
c.7290A>C (p.Glu2430Asp)
c.7251A>C (p.Glu2417Asp)
c.7197A>C (p.Glu2399Asp)
c.7101A>C (p.Glu2367Asp)
c.7071A>C (p.Glu2357Asp)
c.6996A>C (p.Glu2332Asp)
c.6894A>C (p.Glu2298Asp)
c.6525A>C (p.Glu2175Asp)
dbSNP
5g.112842968A>GCA446210524APCc.7428A>G (p.Glu2476=)
c.*7380A>G (n.*7380A>G)
c.7320A>G (p.Glu2440=)
c.7374A>G (p.Glu2458=)
c.231-13681A>G
c.7404A>G (p.Glu2468=)
c.7299A>G (p.Glu2433=)
c.7290A>G (p.Glu2430=)
c.7251A>G (p.Glu2417=)
c.7197A>G (p.Glu2399=)
c.7101A>G (p.Glu2367=)
c.7071A>G (p.Glu2357=)
c.6996A>G (p.Glu2332=)
c.6894A>G (p.Glu2298=)
c.6525A>G (p.Glu2175=)
ClinVar dbSNP
5g.112842968A>TCA16037396APCc.7428A>T (p.Glu2476Asp)
c.*7380A>T (n.*7380A>T)
c.7320A>T (p.Glu2440Asp)
c.7374A>T (p.Glu2458Asp)
c.231-13681A>T
c.7404A>T (p.Glu2468Asp)
c.7299A>T (p.Glu2433Asp)
c.7290A>T (p.Glu2430Asp)
c.7251A>T (p.Glu2417Asp)
c.7197A>T (p.Glu2399Asp)
c.7101A>T (p.Glu2367Asp)
c.7071A>T (p.Glu2357Asp)
c.6996A>T (p.Glu2332Asp)
c.6894A>T (p.Glu2298Asp)
c.6525A>T (p.Glu2175Asp)
ClinVar dbSNP
5g.112842969T>ACA16037397APCc.7429T>A (p.Ser2477Thr)
c.*7381T>A (n.*7381T>A)
c.7321T>A (p.Ser2441Thr)
c.7375T>A (p.Ser2459Thr)
c.231-13680T>A
c.7405T>A (p.Ser2469Thr)
c.7300T>A (p.Ser2434Thr)
c.7291T>A (p.Ser2431Thr)
c.7252T>A (p.Ser2418Thr)
c.7198T>A (p.Ser2400Thr)
c.7102T>A (p.Ser2368Thr)
c.7072T>A (p.Ser2358Thr)
c.6997T>A (p.Ser2333Thr)
c.6895T>A (p.Ser2299Thr)
c.6526T>A (p.Ser2176Thr)
ClinVar dbSNP gnomAD v4
5g.112842969T>CCA16037398APCc.7429T>C (p.Ser2477Pro)
c.*7381T>C (n.*7381T>C)
c.7321T>C (p.Ser2441Pro)
c.7375T>C (p.Ser2459Pro)
c.231-13680T>C
c.7405T>C (p.Ser2469Pro)
c.7300T>C (p.Ser2434Pro)
c.7291T>C (p.Ser2431Pro)
c.7252T>C (p.Ser2418Pro)
c.7198T>C (p.Ser2400Pro)
c.7102T>C (p.Ser2368Pro)
c.7072T>C (p.Ser2358Pro)
c.6997T>C (p.Ser2333Pro)
c.6895T>C (p.Ser2299Pro)
c.6526T>C (p.Ser2176Pro)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842969T>GCA16037399APCc.7429T>G (p.Ser2477Ala)
c.*7381T>G (n.*7381T>G)
c.7321T>G (p.Ser2441Ala)
c.7375T>G (p.Ser2459Ala)
c.231-13680T>G
c.7405T>G (p.Ser2469Ala)
c.7300T>G (p.Ser2434Ala)
c.7291T>G (p.Ser2431Ala)
c.7252T>G (p.Ser2418Ala)
c.7198T>G (p.Ser2400Ala)
c.7102T>G (p.Ser2368Ala)
c.7072T>G (p.Ser2358Ala)
c.6997T>G (p.Ser2333Ala)
c.6895T>G (p.Ser2299Ala)
c.6526T>G (p.Ser2176Ala)
dbSNP
5g.112842969T=CA1573469845APCc.7429T= (p.Ser2477=)
c.*7381T= (n.*7381T=)
c.7321T= (p.Ser2441=)
c.7375T= (p.Ser2459=)
c.231-13680T=
c.7405T= (p.Ser2469=)
c.7300T= (p.Ser2434=)
c.7291T= (p.Ser2431=)
c.7252T= (p.Ser2418=)
c.7198T= (p.Ser2400=)
c.7102T= (p.Ser2368=)
c.7072T= (p.Ser2358=)
c.6997T= (p.Ser2333=)
c.6895T= (p.Ser2299=)
c.6526T= (p.Ser2176=)
5g.112842970C>ACA16037400APCc.7430C>A (p.Ser2477Tyr)
c.*7382C>A (n.*7382C>A)
c.7322C>A (p.Ser2441Tyr)
c.7376C>A (p.Ser2459Tyr)
c.231-13679C>A
c.7406C>A (p.Ser2469Tyr)
c.7301C>A (p.Ser2434Tyr)
c.7292C>A (p.Ser2431Tyr)
c.7253C>A (p.Ser2418Tyr)
c.7199C>A (p.Ser2400Tyr)
c.7103C>A (p.Ser2368Tyr)
c.7073C>A (p.Ser2358Tyr)
c.6998C>A (p.Ser2333Tyr)
c.6896C>A (p.Ser2299Tyr)
c.6527C>A (p.Ser2176Tyr)
dbSNP
5g.112842970C=CA1573469887APCc.7430C= (p.Ser2477=)
c.*7382C= (n.*7382C=)
c.7322C= (p.Ser2441=)
c.7376C= (p.Ser2459=)
c.231-13679C=
c.7406C= (p.Ser2469=)
c.7301C= (p.Ser2434=)
c.7292C= (p.Ser2431=)
c.7253C= (p.Ser2418=)
c.7199C= (p.Ser2400=)
c.7103C= (p.Ser2368=)
c.7073C= (p.Ser2358=)
c.6998C= (p.Ser2333=)
c.6896C= (p.Ser2299=)
c.6527C= (p.Ser2176=)
5g.112842970C>GCA16037401APCc.7430C>G (p.Ser2477Cys)
c.*7382C>G (n.*7382C>G)
c.7322C>G (p.Ser2441Cys)
c.7376C>G (p.Ser2459Cys)
c.231-13679C>G
c.7406C>G (p.Ser2469Cys)
c.7301C>G (p.Ser2434Cys)
c.7292C>G (p.Ser2431Cys)
c.7253C>G (p.Ser2418Cys)
c.7199C>G (p.Ser2400Cys)
c.7103C>G (p.Ser2368Cys)
c.7073C>G (p.Ser2358Cys)
c.6998C>G (p.Ser2333Cys)
c.6896C>G (p.Ser2299Cys)
c.6527C>G (p.Ser2176Cys)
ClinVar dbSNP
5g.112842970C>TCA16037402APCc.7430C>T (p.Ser2477Phe)
c.*7382C>T (n.*7382C>T)
c.7322C>T (p.Ser2441Phe)
c.7376C>T (p.Ser2459Phe)
c.231-13679C>T
c.7406C>T (p.Ser2469Phe)
c.7301C>T (p.Ser2434Phe)
c.7292C>T (p.Ser2431Phe)
c.7253C>T (p.Ser2418Phe)
c.7199C>T (p.Ser2400Phe)
c.7103C>T (p.Ser2368Phe)
c.7073C>T (p.Ser2358Phe)
c.6998C>T (p.Ser2333Phe)
c.6896C>T (p.Ser2299Phe)
c.6527C>T (p.Ser2176Phe)
dbSNP
5g.112842971T>ACA446210527APCc.7431T>A (p.Ser2477=)
c.*7383T>A (n.*7383T>A)
c.7323T>A (p.Ser2441=)
c.7377T>A (p.Ser2459=)
c.231-13678T>A
c.7407T>A (p.Ser2469=)
c.7302T>A (p.Ser2434=)
c.7293T>A (p.Ser2431=)
c.7254T>A (p.Ser2418=)
c.7200T>A (p.Ser2400=)
c.7104T>A (p.Ser2368=)
c.7074T>A (p.Ser2358=)
c.6999T>A (p.Ser2333=)
c.6897T>A (p.Ser2299=)
c.6528T>A (p.Ser2176=)
5g.112842971T>CCA047802APCc.7431T>C (p.Ser2477=)
c.*7383T>C (n.*7383T>C)
c.7323T>C (p.Ser2441=)
c.7377T>C (p.Ser2459=)
c.231-13678T>C
c.7407T>C (p.Ser2469=)
c.7302T>C (p.Ser2434=)
c.7293T>C (p.Ser2431=)
c.7254T>C (p.Ser2418=)
c.7200T>C (p.Ser2400=)
c.7104T>C (p.Ser2368=)
c.7074T>C (p.Ser2358=)
c.6999T>C (p.Ser2333=)
c.6897T>C (p.Ser2299=)
c.6528T>C (p.Ser2176=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842971T>GCA446210529APCc.7431T>G (p.Ser2477=)
c.*7383T>G (n.*7383T>G)
c.7323T>G (p.Ser2441=)
c.7377T>G (p.Ser2459=)
c.231-13678T>G
c.7407T>G (p.Ser2469=)
c.7302T>G (p.Ser2434=)
c.7293T>G (p.Ser2431=)
c.7254T>G (p.Ser2418=)
c.7200T>G (p.Ser2400=)
c.7104T>G (p.Ser2368=)
c.7074T>G (p.Ser2358=)
c.6999T>G (p.Ser2333=)
c.6897T>G (p.Ser2299=)
c.6528T>G (p.Ser2176=)
ClinVar
5g.112842971T=CA1573469897APCc.7431T= (p.Ser2477=)
c.*7383T= (n.*7383T=)
c.7323T= (p.Ser2441=)
c.7377T= (p.Ser2459=)
c.231-13678T=
c.7407T= (p.Ser2469=)
c.7302T= (p.Ser2434=)
c.7293T= (p.Ser2431=)
c.7254T= (p.Ser2418=)
c.7200T= (p.Ser2400=)
c.7104T= (p.Ser2368=)
c.7074T= (p.Ser2358=)
c.6999T= (p.Ser2333=)
c.6897T= (p.Ser2299=)
c.6528T= (p.Ser2176=)
5g.112842972G>ACA16037403APCc.7432G>A (p.Ala2478Thr)
c.*7384G>A (n.*7384G>A)
c.7324G>A (p.Ala2442Thr)
c.7378G>A (p.Ala2460Thr)
c.231-13677G>A
c.7408G>A (p.Ala2470Thr)
c.7303G>A (p.Ala2435Thr)
c.7294G>A (p.Ala2432Thr)
c.7255G>A (p.Ala2419Thr)
c.7201G>A (p.Ala2401Thr)
c.7105G>A (p.Ala2369Thr)
c.7075G>A (p.Ala2359Thr)
c.7000G>A (p.Ala2334Thr)
c.6898G>A (p.Ala2300Thr)
c.6529G>A (p.Ala2177Thr)
dbSNP
5g.112842972G>CCA047824APCc.7432G>C (p.Ala2478Pro)
c.*7384G>C (n.*7384G>C)
c.7324G>C (p.Ala2442Pro)
c.7378G>C (p.Ala2460Pro)
c.231-13677G>C
c.7408G>C (p.Ala2470Pro)
c.7303G>C (p.Ala2435Pro)
c.7294G>C (p.Ala2432Pro)
c.7255G>C (p.Ala2419Pro)
c.7201G>C (p.Ala2401Pro)
c.7105G>C (p.Ala2369Pro)
c.7075G>C (p.Ala2359Pro)
c.7000G>C (p.Ala2334Pro)
c.6898G>C (p.Ala2300Pro)
c.6529G>C (p.Ala2177Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842972G=CA1573469914APCc.7432G= (p.Ala2478=)
c.*7384G= (n.*7384G=)
c.7324G= (p.Ala2442=)
c.7378G= (p.Ala2460=)
c.231-13677G=
c.7408G= (p.Ala2470=)
c.7303G= (p.Ala2435=)
c.7294G= (p.Ala2432=)
c.7255G= (p.Ala2419=)
c.7201G= (p.Ala2401=)
c.7105G= (p.Ala2369=)
c.7075G= (p.Ala2359=)
c.7000G= (p.Ala2334=)
c.6898G= (p.Ala2300=)
c.6529G= (p.Ala2177=)
5g.112842972G>TCA16037404APCc.7432G>T (p.Ala2478Ser)
c.*7384G>T (n.*7384G>T)
c.7324G>T (p.Ala2442Ser)
c.7378G>T (p.Ala2460Ser)
c.231-13677G>T
c.7408G>T (p.Ala2470Ser)
c.7303G>T (p.Ala2435Ser)
c.7294G>T (p.Ala2432Ser)
c.7255G>T (p.Ala2419Ser)
c.7201G>T (p.Ala2401Ser)
c.7105G>T (p.Ala2369Ser)
c.7075G>T (p.Ala2359Ser)
c.7000G>T (p.Ala2334Ser)
c.6898G>T (p.Ala2300Ser)
c.6529G>T (p.Ala2177Ser)
dbSNP
5g.112842973C>ACA16037405APCc.7433C>A (p.Ala2478Asp)
c.*7385C>A (n.*7385C>A)
c.7325C>A (p.Ala2442Asp)
c.7379C>A (p.Ala2460Asp)
c.231-13676C>A
c.7409C>A (p.Ala2470Asp)
c.7304C>A (p.Ala2435Asp)
c.7295C>A (p.Ala2432Asp)
c.7256C>A (p.Ala2419Asp)
c.7202C>A (p.Ala2401Asp)
c.7106C>A (p.Ala2369Asp)
c.7076C>A (p.Ala2359Asp)
c.7001C>A (p.Ala2334Asp)
c.6899C>A (p.Ala2300Asp)
c.6530C>A (p.Ala2177Asp)
ClinVar dbSNP
5g.112842973C=CA1573469931APCc.7433C= (p.Ala2478=)
c.*7385C= (n.*7385C=)
c.7325C= (p.Ala2442=)
c.7379C= (p.Ala2460=)
c.231-13676C=
c.7409C= (p.Ala2470=)
c.7304C= (p.Ala2435=)
c.7295C= (p.Ala2432=)
c.7256C= (p.Ala2419=)
c.7202C= (p.Ala2401=)
c.7106C= (p.Ala2369=)
c.7076C= (p.Ala2359=)
c.7001C= (p.Ala2334=)
c.6899C= (p.Ala2300=)
c.6530C= (p.Ala2177=)
5g.112842973C>GCA16037406APCc.7433C>G (p.Ala2478Gly)
c.*7385C>G (n.*7385C>G)
c.7325C>G (p.Ala2442Gly)
c.7379C>G (p.Ala2460Gly)
c.231-13676C>G
c.7409C>G (p.Ala2470Gly)
c.7304C>G (p.Ala2435Gly)
c.7295C>G (p.Ala2432Gly)
c.7256C>G (p.Ala2419Gly)
c.7202C>G (p.Ala2401Gly)
c.7106C>G (p.Ala2369Gly)
c.7076C>G (p.Ala2359Gly)
c.7001C>G (p.Ala2334Gly)
c.6899C>G (p.Ala2300Gly)
c.6530C>G (p.Ala2177Gly)
dbSNP
5g.112842973C>TCA047837APCc.7433C>T (p.Ala2478Val)
c.*7385C>T (n.*7385C>T)
c.7325C>T (p.Ala2442Val)
c.7379C>T (p.Ala2460Val)
c.231-13676C>T
c.7409C>T (p.Ala2470Val)
c.7304C>T (p.Ala2435Val)
c.7295C>T (p.Ala2432Val)
c.7256C>T (p.Ala2419Val)
c.7202C>T (p.Ala2401Val)
c.7106C>T (p.Ala2369Val)
c.7076C>T (p.Ala2359Val)
c.7001C>T (p.Ala2334Val)
c.6899C>T (p.Ala2300Val)
c.6530C>T (p.Ala2177Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842974T>ACA446210537APCc.7434T>A (p.Ala2478=)
c.*7386T>A (n.*7386T>A)
c.7326T>A (p.Ala2442=)
c.7380T>A (p.Ala2460=)
c.231-13675T>A
c.7410T>A (p.Ala2470=)
c.7305T>A (p.Ala2435=)
c.7296T>A (p.Ala2432=)
c.7257T>A (p.Ala2419=)
c.7203T>A (p.Ala2401=)
c.7107T>A (p.Ala2369=)
c.7077T>A (p.Ala2359=)
c.7002T>A (p.Ala2334=)
c.6900T>A (p.Ala2300=)
c.6531T>A (p.Ala2177=)
dbSNP
5g.112842974T>CCA446210539APCc.7434T>C (p.Ala2478=)
c.*7386T>C (n.*7386T>C)
c.7326T>C (p.Ala2442=)
c.7380T>C (p.Ala2460=)
c.231-13675T>C
c.7410T>C (p.Ala2470=)
c.7305T>C (p.Ala2435=)
c.7296T>C (p.Ala2432=)
c.7257T>C (p.Ala2419=)
c.7203T>C (p.Ala2401=)
c.7107T>C (p.Ala2369=)
c.7077T>C (p.Ala2359=)
c.7002T>C (p.Ala2334=)
c.6900T>C (p.Ala2300=)
c.6531T>C (p.Ala2177=)
ClinVar dbSNP gnomAD v4
5g.112842974T>GCA16611738APCc.7434T>G (p.Ala2478=)
c.*7386T>G (n.*7386T>G)
c.7326T>G (p.Ala2442=)
c.7380T>G (p.Ala2460=)
c.231-13675T>G
c.7410T>G (p.Ala2470=)
c.7305T>G (p.Ala2435=)
c.7296T>G (p.Ala2432=)
c.7257T>G (p.Ala2419=)
c.7203T>G (p.Ala2401=)
c.7107T>G (p.Ala2369=)
c.7077T>G (p.Ala2359=)
c.7002T>G (p.Ala2334=)
c.6900T>G (p.Ala2300=)
c.6531T>G (p.Ala2177=)
ClinVar dbSNP
5g.112842974T=CA1573469943APCc.7434T= (p.Ala2478=)
c.*7386T= (n.*7386T=)
c.7326T= (p.Ala2442=)
c.7380T= (p.Ala2460=)
c.231-13675T=
c.7410T= (p.Ala2470=)
c.7305T= (p.Ala2435=)
c.7296T= (p.Ala2432=)
c.7257T= (p.Ala2419=)
c.7203T= (p.Ala2401=)
c.7107T= (p.Ala2369=)
c.7077T= (p.Ala2359=)
c.7002T= (p.Ala2334=)
c.6900T= (p.Ala2300=)
c.6531T= (p.Ala2177=)
5g.112842975T>ACA16037407APCc.7435T>A (p.Ser2479Thr)
c.*7387T>A (n.*7387T>A)
c.7327T>A (p.Ser2443Thr)
c.7381T>A (p.Ser2461Thr)
c.231-13674T>A
c.7411T>A (p.Ser2471Thr)
c.7306T>A (p.Ser2436Thr)
c.7297T>A (p.Ser2433Thr)
c.7258T>A (p.Ser2420Thr)
c.7204T>A (p.Ser2402Thr)
c.7108T>A (p.Ser2370Thr)
c.7078T>A (p.Ser2360Thr)
c.7003T>A (p.Ser2335Thr)
c.6901T>A (p.Ser2301Thr)
c.6532T>A (p.Ser2178Thr)
dbSNP
5g.112842975T>CCA16037408APCc.7435T>C (p.Ser2479Pro)
c.*7387T>C (n.*7387T>C)
c.7327T>C (p.Ser2443Pro)
c.7381T>C (p.Ser2461Pro)
c.231-13674T>C
c.7411T>C (p.Ser2471Pro)
c.7306T>C (p.Ser2436Pro)
c.7297T>C (p.Ser2433Pro)
c.7258T>C (p.Ser2420Pro)
c.7204T>C (p.Ser2402Pro)
c.7108T>C (p.Ser2370Pro)
c.7078T>C (p.Ser2360Pro)
c.7003T>C (p.Ser2335Pro)
c.6901T>C (p.Ser2301Pro)
c.6532T>C (p.Ser2178Pro)
dbSNP
5g.112842975T>GCA16037409APCc.7435T>G (p.Ser2479Ala)
c.*7387T>G (n.*7387T>G)
c.7327T>G (p.Ser2443Ala)
c.7381T>G (p.Ser2461Ala)
c.231-13674T>G
c.7411T>G (p.Ser2471Ala)
c.7306T>G (p.Ser2436Ala)
c.7297T>G (p.Ser2433Ala)
c.7258T>G (p.Ser2420Ala)
c.7204T>G (p.Ser2402Ala)
c.7108T>G (p.Ser2370Ala)
c.7078T>G (p.Ser2360Ala)
c.7003T>G (p.Ser2335Ala)
c.6901T>G (p.Ser2301Ala)
c.6532T>G (p.Ser2178Ala)
5g.112842976C>ACA16037410APCc.7436C>A (p.Ser2479Ter)
c.*7388C>A (n.*7388C>A)
c.7328C>A (p.Ser2443Ter)
c.7382C>A (p.Ser2461Ter)
c.231-13673C>A
c.7412C>A (p.Ser2471Ter)
c.7307C>A (p.Ser2436Ter)
c.7298C>A (p.Ser2433Ter)
c.7259C>A (p.Ser2420Ter)
c.7205C>A (p.Ser2402Ter)
c.7109C>A (p.Ser2370Ter)
c.7079C>A (p.Ser2360Ter)
c.7004C>A (p.Ser2335Ter)
c.6902C>A (p.Ser2301Ter)
c.6533C>A (p.Ser2178Ter)
dbSNP
5g.112842976C=CA1573469956APCc.7436C= (p.Ser2479=)
c.*7388C= (n.*7388C=)
c.7328C= (p.Ser2443=)
c.7382C= (p.Ser2461=)
c.231-13673C=
c.7412C= (p.Ser2471=)
c.7307C= (p.Ser2436=)
c.7298C= (p.Ser2433=)
c.7259C= (p.Ser2420=)
c.7205C= (p.Ser2402=)
c.7109C= (p.Ser2370=)
c.7079C= (p.Ser2360=)
c.7004C= (p.Ser2335=)
c.6902C= (p.Ser2301=)
c.6533C= (p.Ser2178=)
5g.112842976C>GCA16037411APCc.7436C>G (p.Ser2479Ter)
c.*7388C>G (n.*7388C>G)
c.7328C>G (p.Ser2443Ter)
c.7382C>G (p.Ser2461Ter)
c.231-13673C>G
c.7412C>G (p.Ser2471Ter)
c.7307C>G (p.Ser2436Ter)
c.7298C>G (p.Ser2433Ter)
c.7259C>G (p.Ser2420Ter)
c.7205C>G (p.Ser2402Ter)
c.7109C>G (p.Ser2370Ter)
c.7079C>G (p.Ser2360Ter)
c.7004C>G (p.Ser2335Ter)
c.6902C>G (p.Ser2301Ter)
c.6533C>G (p.Ser2178Ter)
dbSNP
5g.112842976C>TCA16037412APCc.7436C>T (p.Ser2479Leu)
c.*7388C>T (n.*7388C>T)
c.7328C>T (p.Ser2443Leu)
c.7382C>T (p.Ser2461Leu)
c.231-13673C>T
c.7412C>T (p.Ser2471Leu)
c.7307C>T (p.Ser2436Leu)
c.7298C>T (p.Ser2433Leu)
c.7259C>T (p.Ser2420Leu)
c.7205C>T (p.Ser2402Leu)
c.7109C>T (p.Ser2370Leu)
c.7079C>T (p.Ser2360Leu)
c.7004C>T (p.Ser2335Leu)
c.6902C>T (p.Ser2301Leu)
c.6533C>T (p.Ser2178Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842977A>CCA446210541APCc.7437A>C (p.Ser2479=)
c.*7389A>C (n.*7389A>C)
c.7329A>C (p.Ser2443=)
c.7383A>C (p.Ser2461=)
c.231-13672A>C
c.7413A>C (p.Ser2471=)
c.7308A>C (p.Ser2436=)
c.7299A>C (p.Ser2433=)
c.7260A>C (p.Ser2420=)
c.7206A>C (p.Ser2402=)
c.7110A>C (p.Ser2370=)
c.7080A>C (p.Ser2360=)
c.7005A>C (p.Ser2335=)
c.6903A>C (p.Ser2301=)
c.6534A>C (p.Ser2178=)
ClinVar dbSNP
5g.112842977A>GCA446210542APCc.7437A>G (p.Ser2479=)
c.*7389A>G (n.*7389A>G)
c.7329A>G (p.Ser2443=)
c.7383A>G (p.Ser2461=)
c.231-13672A>G
c.7413A>G (p.Ser2471=)
c.7308A>G (p.Ser2436=)
c.7299A>G (p.Ser2433=)
c.7260A>G (p.Ser2420=)
c.7206A>G (p.Ser2402=)
c.7110A>G (p.Ser2370=)
c.7080A>G (p.Ser2360=)
c.7005A>G (p.Ser2335=)
c.6903A>G (p.Ser2301=)
c.6534A>G (p.Ser2178=)
ClinVar
5g.112842977A>TCA446210543APCc.7437A>T (p.Ser2479=)
c.*7389A>T (n.*7389A>T)
c.7329A>T (p.Ser2443=)
c.7383A>T (p.Ser2461=)
c.231-13672A>T
c.7413A>T (p.Ser2471=)
c.7308A>T (p.Ser2436=)
c.7299A>T (p.Ser2433=)
c.7260A>T (p.Ser2420=)
c.7206A>T (p.Ser2402=)
c.7110A>T (p.Ser2370=)
c.7080A>T (p.Ser2360=)
c.7005A>T (p.Ser2335=)
c.6903A>T (p.Ser2301=)
c.6534A>T (p.Ser2178=)
5g.112842978T>ACA16037413APCc.7438T>A (p.Phe2480Ile)
c.*7390T>A (n.*7390T>A)
c.7330T>A (p.Phe2444Ile)
c.7384T>A (p.Phe2462Ile)
c.231-13671T>A
c.7414T>A (p.Phe2472Ile)
c.7309T>A (p.Phe2437Ile)
c.7300T>A (p.Phe2434Ile)
c.7261T>A (p.Phe2421Ile)
c.7207T>A (p.Phe2403Ile)
c.7111T>A (p.Phe2371Ile)
c.7081T>A (p.Phe2361Ile)
c.7006T>A (p.Phe2336Ile)
c.6904T>A (p.Phe2302Ile)
c.6535T>A (p.Phe2179Ile)
dbSNP gnomAD v4
5g.112842978T>CCA16037414APCc.7438T>C (p.Phe2480Leu)
c.*7390T>C (n.*7390T>C)
c.7330T>C (p.Phe2444Leu)
c.7384T>C (p.Phe2462Leu)
c.231-13671T>C
c.7414T>C (p.Phe2472Leu)
c.7309T>C (p.Phe2437Leu)
c.7300T>C (p.Phe2434Leu)
c.7261T>C (p.Phe2421Leu)
c.7207T>C (p.Phe2403Leu)
c.7111T>C (p.Phe2371Leu)
c.7081T>C (p.Phe2361Leu)
c.7006T>C (p.Phe2336Leu)
c.6904T>C (p.Phe2302Leu)
c.6535T>C (p.Phe2179Leu)
dbSNP
5g.112842978T>GCA16037415APCc.7438T>G (p.Phe2480Val)
c.*7390T>G (n.*7390T>G)
c.7330T>G (p.Phe2444Val)
c.7384T>G (p.Phe2462Val)
c.231-13671T>G
c.7414T>G (p.Phe2472Val)
c.7309T>G (p.Phe2437Val)
c.7300T>G (p.Phe2434Val)
c.7261T>G (p.Phe2421Val)
c.7207T>G (p.Phe2403Val)
c.7111T>G (p.Phe2371Val)
c.7081T>G (p.Phe2361Val)
c.7006T>G (p.Phe2336Val)
c.6904T>G (p.Phe2302Val)
c.6535T>G (p.Phe2179Val)
dbSNP
5g.112842979T>ACA16037416APCc.7439T>A (p.Phe2480Tyr)
c.*7391T>A (n.*7391T>A)
c.7331T>A (p.Phe2444Tyr)
c.7385T>A (p.Phe2462Tyr)
c.231-13670T>A
c.7415T>A (p.Phe2472Tyr)
c.7310T>A (p.Phe2437Tyr)
c.7301T>A (p.Phe2434Tyr)
c.7262T>A (p.Phe2421Tyr)
c.7208T>A (p.Phe2403Tyr)
c.7112T>A (p.Phe2371Tyr)
c.7082T>A (p.Phe2361Tyr)
c.7007T>A (p.Phe2336Tyr)
c.6905T>A (p.Phe2302Tyr)
c.6536T>A (p.Phe2179Tyr)
dbSNP
5g.112842979T>CCA16037417APCc.7439T>C (p.Phe2480Ser)
c.*7391T>C (n.*7391T>C)
c.7331T>C (p.Phe2444Ser)
c.7385T>C (p.Phe2462Ser)
c.231-13670T>C
c.7415T>C (p.Phe2472Ser)
c.7310T>C (p.Phe2437Ser)
c.7301T>C (p.Phe2434Ser)
c.7262T>C (p.Phe2421Ser)
c.7208T>C (p.Phe2403Ser)
c.7112T>C (p.Phe2371Ser)
c.7082T>C (p.Phe2361Ser)
c.7007T>C (p.Phe2336Ser)
c.6905T>C (p.Phe2302Ser)
c.6536T>C (p.Phe2179Ser)
ClinVar dbSNP
5g.112842979T>GCA16037418APCc.7439T>G (p.Phe2480Cys)
c.*7391T>G (n.*7391T>G)
c.7331T>G (p.Phe2444Cys)
c.7385T>G (p.Phe2462Cys)
c.231-13670T>G
c.7415T>G (p.Phe2472Cys)
c.7310T>G (p.Phe2437Cys)
c.7301T>G (p.Phe2434Cys)
c.7262T>G (p.Phe2421Cys)
c.7208T>G (p.Phe2403Cys)
c.7112T>G (p.Phe2371Cys)
c.7082T>G (p.Phe2361Cys)
c.7007T>G (p.Phe2336Cys)
c.6905T>G (p.Phe2302Cys)
c.6536T>G (p.Phe2179Cys)
ClinVar
5g.112842980T>ACA16037419APCc.7440T>A (p.Phe2480Leu)
c.*7392T>A (n.*7392T>A)
c.7332T>A (p.Phe2444Leu)
c.7386T>A (p.Phe2462Leu)
c.231-13669T>A
c.7416T>A (p.Phe2472Leu)
c.7311T>A (p.Phe2437Leu)
c.7302T>A (p.Phe2434Leu)
c.7263T>A (p.Phe2421Leu)
c.7209T>A (p.Phe2403Leu)
c.7113T>A (p.Phe2371Leu)
c.7083T>A (p.Phe2361Leu)
c.7008T>A (p.Phe2336Leu)
c.6906T>A (p.Phe2302Leu)
c.6537T>A (p.Phe2179Leu)
dbSNP
5g.112842980T>CCA446210545APCc.7440T>C (p.Phe2480=)
c.*7392T>C (n.*7392T>C)
c.7332T>C (p.Phe2444=)
c.7386T>C (p.Phe2462=)
c.231-13669T>C
c.7416T>C (p.Phe2472=)
c.7311T>C (p.Phe2437=)
c.7302T>C (p.Phe2434=)
c.7263T>C (p.Phe2421=)
c.7209T>C (p.Phe2403=)
c.7113T>C (p.Phe2371=)
c.7083T>C (p.Phe2361=)
c.7008T>C (p.Phe2336=)
c.6906T>C (p.Phe2302=)
c.6537T>C (p.Phe2179=)
dbSNP
5g.112842980T>GCA16037420APCc.7440T>G (p.Phe2480Leu)
c.*7392T>G (n.*7392T>G)
c.7332T>G (p.Phe2444Leu)
c.7386T>G (p.Phe2462Leu)
c.231-13669T>G
c.7416T>G (p.Phe2472Leu)
c.7311T>G (p.Phe2437Leu)
c.7302T>G (p.Phe2434Leu)
c.7263T>G (p.Phe2421Leu)
c.7209T>G (p.Phe2403Leu)
c.7113T>G (p.Phe2371Leu)
c.7083T>G (p.Phe2361Leu)
c.7008T>G (p.Phe2336Leu)
c.6906T>G (p.Phe2302Leu)
c.6537T>G (p.Phe2179Leu)
5g.112842981G>ACA16037421APCc.7441G>A (p.Glu2481Lys)
c.*7393G>A (n.*7393G>A)
c.7333G>A (p.Glu2445Lys)
c.7387G>A (p.Glu2463Lys)
c.231-13668G>A
c.7417G>A (p.Glu2473Lys)
c.7312G>A (p.Glu2438Lys)
c.7303G>A (p.Glu2435Lys)
c.7264G>A (p.Glu2422Lys)
c.7210G>A (p.Glu2404Lys)
c.7114G>A (p.Glu2372Lys)
c.7084G>A (p.Glu2362Lys)
c.7009G>A (p.Glu2337Lys)
c.6907G>A (p.Glu2303Lys)
c.6538G>A (p.Glu2180Lys)
dbSNP
5g.112842981G>CCA16037422APCc.7441G>C (p.Glu2481Gln)
c.*7393G>C (n.*7393G>C)
c.7333G>C (p.Glu2445Gln)
c.7387G>C (p.Glu2463Gln)
c.231-13668G>C
c.7417G>C (p.Glu2473Gln)
c.7312G>C (p.Glu2438Gln)
c.7303G>C (p.Glu2435Gln)
c.7264G>C (p.Glu2422Gln)
c.7210G>C (p.Glu2404Gln)
c.7114G>C (p.Glu2372Gln)
c.7084G>C (p.Glu2362Gln)
c.7009G>C (p.Glu2337Gln)
c.6907G>C (p.Glu2303Gln)
c.6538G>C (p.Glu2180Gln)
ClinVar dbSNP
5g.112842981G=CA1573469972APCc.7441G= (p.Glu2481=)
c.*7393G= (n.*7393G=)
c.7333G= (p.Glu2445=)
c.7387G= (p.Glu2463=)
c.231-13668G=
c.7417G= (p.Glu2473=)
c.7312G= (p.Glu2438=)
c.7303G= (p.Glu2435=)
c.7264G= (p.Glu2422=)
c.7210G= (p.Glu2404=)
c.7114G= (p.Glu2372=)
c.7084G= (p.Glu2362=)
c.7009G= (p.Glu2337=)
c.6907G= (p.Glu2303=)
c.6538G= (p.Glu2180=)
5g.112842981G>TCA16037423APCc.7441G>T (p.Glu2481Ter)
c.*7393G>T (n.*7393G>T)
c.7333G>T (p.Glu2445Ter)
c.7387G>T (p.Glu2463Ter)
c.231-13668G>T
c.7417G>T (p.Glu2473Ter)
c.7312G>T (p.Glu2438Ter)
c.7303G>T (p.Glu2435Ter)
c.7264G>T (p.Glu2422Ter)
c.7210G>T (p.Glu2404Ter)
c.7114G>T (p.Glu2372Ter)
c.7084G>T (p.Glu2362Ter)
c.7009G>T (p.Glu2337Ter)
c.6907G>T (p.Glu2303Ter)
c.6538G>T (p.Glu2180Ter)
ClinVar dbSNP
5g.112842982A=CA1573470005APCc.7442A= (p.Glu2481=)
c.*7394A= (n.*7394A=)
c.7334A= (p.Glu2445=)
c.7388A= (p.Glu2463=)
c.231-13667A=
c.7418A= (p.Glu2473=)
c.7313A= (p.Glu2438=)
c.7304A= (p.Glu2435=)
c.7265A= (p.Glu2422=)
c.7211A= (p.Glu2404=)
c.7115A= (p.Glu2372=)
c.7085A= (p.Glu2362=)
c.7010A= (p.Glu2337=)
c.6908A= (p.Glu2303=)
c.6539A= (p.Glu2180=)
5g.112842982A>CCA10578442APCc.7442A>C (p.Glu2481Ala)
c.*7394A>C (n.*7394A>C)
c.7334A>C (p.Glu2445Ala)
c.7388A>C (p.Glu2463Ala)
c.231-13667A>C
c.7418A>C (p.Glu2473Ala)
c.7313A>C (p.Glu2438Ala)
c.7304A>C (p.Glu2435Ala)
c.7265A>C (p.Glu2422Ala)
c.7211A>C (p.Glu2404Ala)
c.7115A>C (p.Glu2372Ala)
c.7085A>C (p.Glu2362Ala)
c.7010A>C (p.Glu2337Ala)
c.6908A>C (p.Glu2303Ala)
c.6539A>C (p.Glu2180Ala)
ClinVar dbSNP
5g.112842982A>GCA16037424APCc.7442A>G (p.Glu2481Gly)
c.*7394A>G (n.*7394A>G)
c.7334A>G (p.Glu2445Gly)
c.7388A>G (p.Glu2463Gly)
c.231-13667A>G
c.7418A>G (p.Glu2473Gly)
c.7313A>G (p.Glu2438Gly)
c.7304A>G (p.Glu2435Gly)
c.7265A>G (p.Glu2422Gly)
c.7211A>G (p.Glu2404Gly)
c.7115A>G (p.Glu2372Gly)
c.7085A>G (p.Glu2362Gly)
c.7010A>G (p.Glu2337Gly)
c.6908A>G (p.Glu2303Gly)
c.6539A>G (p.Glu2180Gly)
5g.112842982A>TCA16037425APCc.7442A>T (p.Glu2481Val)
c.*7394A>T (n.*7394A>T)
c.7334A>T (p.Glu2445Val)
c.7388A>T (p.Glu2463Val)
c.231-13667A>T
c.7418A>T (p.Glu2473Val)
c.7313A>T (p.Glu2438Val)
c.7304A>T (p.Glu2435Val)
c.7265A>T (p.Glu2422Val)
c.7211A>T (p.Glu2404Val)
c.7115A>T (p.Glu2372Val)
c.7085A>T (p.Glu2362Val)
c.7010A>T (p.Glu2337Val)
c.6908A>T (p.Glu2303Val)
c.6539A>T (p.Glu2180Val)
dbSNP
5g.112842983A=CA1573470027APCc.7443A= (p.Glu2481=)
c.*7395A= (n.*7395A=)
c.7335A= (p.Glu2445=)
c.7389A= (p.Glu2463=)
c.231-13666A=
c.7419A= (p.Glu2473=)
c.7314A= (p.Glu2438=)
c.7305A= (p.Glu2435=)
c.7266A= (p.Glu2422=)
c.7212A= (p.Glu2404=)
c.7116A= (p.Glu2372=)
c.7086A= (p.Glu2362=)
c.7011A= (p.Glu2337=)
c.6909A= (p.Glu2303=)
c.6540A= (p.Glu2180=)
5g.112842983A>CCA013632APCc.7443A>C (p.Glu2481Asp)
c.*7395A>C (n.*7395A>C)
c.7335A>C (p.Glu2445Asp)
c.7389A>C (p.Glu2463Asp)
c.231-13666A>C
c.7419A>C (p.Glu2473Asp)
c.7314A>C (p.Glu2438Asp)
c.7305A>C (p.Glu2435Asp)
c.7266A>C (p.Glu2422Asp)
c.7212A>C (p.Glu2404Asp)
c.7116A>C (p.Glu2372Asp)
c.7086A>C (p.Glu2362Asp)
c.7011A>C (p.Glu2337Asp)
c.6909A>C (p.Glu2303Asp)
c.6540A>C (p.Glu2180Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842983A>GCA047877APCc.7443A>G (p.Glu2481=)
c.*7395A>G (n.*7395A>G)
c.7335A>G (p.Glu2445=)
c.7389A>G (p.Glu2463=)
c.231-13666A>G
c.7419A>G (p.Glu2473=)
c.7314A>G (p.Glu2438=)
c.7305A>G (p.Glu2435=)
c.7266A>G (p.Glu2422=)
c.7212A>G (p.Glu2404=)
c.7116A>G (p.Glu2372=)
c.7086A>G (p.Glu2362=)
c.7011A>G (p.Glu2337=)
c.6909A>G (p.Glu2303=)
c.6540A>G (p.Glu2180=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842983A>TCA16037426APCc.7443A>T (p.Glu2481Asp)
c.*7395A>T (n.*7395A>T)
c.7335A>T (p.Glu2445Asp)
c.7389A>T (p.Glu2463Asp)
c.231-13666A>T
c.7419A>T (p.Glu2473Asp)
c.7314A>T (p.Glu2438Asp)
c.7305A>T (p.Glu2435Asp)
c.7266A>T (p.Glu2422Asp)
c.7212A>T (p.Glu2404Asp)
c.7116A>T (p.Glu2372Asp)
c.7086A>T (p.Glu2362Asp)
c.7011A>T (p.Glu2337Asp)
c.6909A>T (p.Glu2303Asp)
c.6540A>T (p.Glu2180Asp)
dbSNP
5g.112842983_112842985delinsATCCA1573470037APCc.7443_7445delinsATC (p.Glu2481=)
c.*7395_*7397delinsATC (n.*7395_*7397delinsATC)
c.7335_7337delinsATC (p.Glu2445=)
c.7389_7391delinsATC (p.Glu2463=)
c.231-13666_231-13664delinsATC
c.7419_7421delinsATC (p.Glu2473=)
c.7314_7316delinsATC (p.Glu2438=)
c.7305_7307delinsATC (p.Glu2435=)
c.7266_7268delinsATC (p.Glu2422=)
c.7212_7214delinsATC (p.Glu2404=)
c.7116_7118delinsATC (p.Glu2372=)
c.7086_7088delinsATC (p.Glu2362=)
c.7011_7013delinsATC (p.Glu2337=)
c.6909_6911delinsATC (p.Glu2303=)
c.6540_6542delinsATC (p.Glu2180=)
5g.112842983_112842984insGCAGATCA2674868862APCc.7443_7444insGCAGAT (p.Glu2481_Ser2482insAlaAsp)
c.*7395_*7396insGCAGAT (n.*7395_*7396insGCAGAT)
c.7335_7336insGCAGAT (p.Glu2445_Ser2446insAlaAsp)
c.7389_7390insGCAGAT (p.Glu2463_Ser2464insAlaAsp)
c.231-13666_231-13665insGCAGAT
c.7419_7420insGCAGAT (p.Glu2473_Ser2474insAlaAsp)
c.7314_7315insGCAGAT (p.Glu2438_Ser2439insAlaAsp)
c.7305_7306insGCAGAT (p.Glu2435_Ser2436insAlaAsp)
c.7266_7267insGCAGAT (p.Glu2422_Ser2423insAlaAsp)
c.7212_7213insGCAGAT (p.Glu2404_Ser2405insAlaAsp)
c.7116_7117insGCAGAT (p.Glu2372_Ser2373insAlaAsp)
c.7086_7087insGCAGAT (p.Glu2362_Ser2363insAlaAsp)
c.7011_7012insGCAGAT (p.Glu2337_Ser2338insAlaAsp)
c.6909_6910insGCAGAT (p.Glu2303_Ser2304insAlaAsp)
c.6540_6541insGCAGAT (p.Glu2180_Ser2181insAlaAsp)
gnomAD v4
5g.112842984T>ACA16037427APCc.7444T>A (p.Ser2482Thr)
c.*7396T>A (n.*7396T>A)
c.7336T>A (p.Ser2446Thr)
c.7390T>A (p.Ser2464Thr)
c.231-13665T>A
c.7420T>A (p.Ser2474Thr)
c.7315T>A (p.Ser2439Thr)
c.7306T>A (p.Ser2436Thr)
c.7267T>A (p.Ser2423Thr)
c.7213T>A (p.Ser2405Thr)
c.7117T>A (p.Ser2373Thr)
c.7087T>A (p.Ser2363Thr)
c.7012T>A (p.Ser2338Thr)
c.6910T>A (p.Ser2304Thr)
c.6541T>A (p.Ser2181Thr)
ClinVar dbSNP
5g.112842984T>CCA16037428APCc.7444T>C (p.Ser2482Pro)
c.*7396T>C (n.*7396T>C)
c.7336T>C (p.Ser2446Pro)
c.7390T>C (p.Ser2464Pro)
c.231-13665T>C
c.7420T>C (p.Ser2474Pro)
c.7315T>C (p.Ser2439Pro)
c.7306T>C (p.Ser2436Pro)
c.7267T>C (p.Ser2423Pro)
c.7213T>C (p.Ser2405Pro)
c.7117T>C (p.Ser2373Pro)
c.7087T>C (p.Ser2363Pro)
c.7012T>C (p.Ser2338Pro)
c.6910T>C (p.Ser2304Pro)
c.6541T>C (p.Ser2181Pro)
5g.112842984T>GCA16037429APCc.7444T>G (p.Ser2482Ala)
c.*7396T>G (n.*7396T>G)
c.7336T>G (p.Ser2446Ala)
c.7390T>G (p.Ser2464Ala)
c.231-13665T>G
c.7420T>G (p.Ser2474Ala)
c.7315T>G (p.Ser2439Ala)
c.7306T>G (p.Ser2436Ala)
c.7267T>G (p.Ser2423Ala)
c.7213T>G (p.Ser2405Ala)
c.7117T>G (p.Ser2373Ala)
c.7087T>G (p.Ser2363Ala)
c.7012T>G (p.Ser2338Ala)
c.6910T>G (p.Ser2304Ala)
c.6541T>G (p.Ser2181Ala)
5g.112842987_112842988delCA658822514APCc.7447_7448del (p.Leu2483PhefsTer5)
c.*7399_*7400del (n.*7399_*7400del)
c.7339_7340del (p.Leu2447PhefsTer5)
c.7393_7394del (p.Leu2465PhefsTer5)
c.231-13662_231-13661del
c.7423_7424del (p.Leu2475PhefsTer5)
c.7318_7319del (p.Leu2440PhefsTer5)
c.7309_7310del (p.Leu2437PhefsTer5)
c.7270_7271del (p.Leu2424PhefsTer5)
c.7216_7217del (p.Leu2406PhefsTer5)
c.7120_7121del (p.Leu2374PhefsTer5)
c.7090_7091del (p.Leu2364PhefsTer5)
c.7015_7016del (p.Leu2339PhefsTer5)
c.6913_6914del (p.Leu2305PhefsTer5)
c.6544_6545del (p.Leu2182PhefsTer5)
ClinVar dbSNP
5g.112842985C>ACA047889APCc.7445C>A (p.Ser2482Tyr)
c.*7397C>A (n.*7397C>A)
c.7337C>A (p.Ser2446Tyr)
c.7391C>A (p.Ser2464Tyr)
c.231-13664C>A
c.7421C>A (p.Ser2474Tyr)
c.7316C>A (p.Ser2439Tyr)
c.7307C>A (p.Ser2436Tyr)
c.7268C>A (p.Ser2423Tyr)
c.7214C>A (p.Ser2405Tyr)
c.7118C>A (p.Ser2373Tyr)
c.7088C>A (p.Ser2363Tyr)
c.7013C>A (p.Ser2338Tyr)
c.6911C>A (p.Ser2304Tyr)
c.6542C>A (p.Ser2181Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112842985C=CA1573470068APCc.7445C= (p.Ser2482=)
c.*7397C= (n.*7397C=)
c.7337C= (p.Ser2446=)
c.7391C= (p.Ser2464=)
c.231-13664C=
c.7421C= (p.Ser2474=)
c.7316C= (p.Ser2439=)
c.7307C= (p.Ser2436=)
c.7268C= (p.Ser2423=)
c.7214C= (p.Ser2405=)
c.7118C= (p.Ser2373=)
c.7088C= (p.Ser2363=)
c.7013C= (p.Ser2338=)
c.6911C= (p.Ser2304=)
c.6542C= (p.Ser2181=)
5g.112842985C>GCA16037430APCc.7445C>G (p.Ser2482Cys)
c.*7397C>G (n.*7397C>G)
c.7337C>G (p.Ser2446Cys)
c.7391C>G (p.Ser2464Cys)
c.231-13664C>G
c.7421C>G (p.Ser2474Cys)
c.7316C>G (p.Ser2439Cys)
c.7307C>G (p.Ser2436Cys)
c.7268C>G (p.Ser2423Cys)
c.7214C>G (p.Ser2405Cys)
c.7118C>G (p.Ser2373Cys)
c.7088C>G (p.Ser2363Cys)
c.7013C>G (p.Ser2338Cys)
c.6911C>G (p.Ser2304Cys)
c.6542C>G (p.Ser2181Cys)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.112842985C>TCA16037431APCc.7445C>T (p.Ser2482Phe)
c.*7397C>T (n.*7397C>T)
c.7337C>T (p.Ser2446Phe)
c.7391C>T (p.Ser2464Phe)
c.231-13664C>T
c.7421C>T (p.Ser2474Phe)
c.7316C>T (p.Ser2439Phe)
c.7307C>T (p.Ser2436Phe)
c.7268C>T (p.Ser2423Phe)
c.7214C>T (p.Ser2405Phe)
c.7118C>T (p.Ser2373Phe)
c.7088C>T (p.Ser2363Phe)
c.7013C>T (p.Ser2338Phe)
c.6911C>T (p.Ser2304Phe)
c.6542C>T (p.Ser2181Phe)
dbSNP
5g.112842985_112842989delinsCTCTTCA1573470062APCc.7445_7449delinsCTCTT (p.Ser2482=)
c.*7397_*7401delinsCTCTT (n.*7397_*7401delinsCTCTT)
c.7337_7341delinsCTCTT (p.Ser2446=)
c.7391_7395delinsCTCTT (p.Ser2464=)
c.231-13664_231-13660delinsCTCTT
c.7421_7425delinsCTCTT (p.Ser2474=)
c.7316_7320delinsCTCTT (p.Ser2439=)
c.7307_7311delinsCTCTT (p.Ser2436=)
c.7268_7272delinsCTCTT (p.Ser2423=)
c.7214_7218delinsCTCTT (p.Ser2405=)
c.7118_7122delinsCTCTT (p.Ser2373=)
c.7088_7092delinsCTCTT (p.Ser2363=)
c.7013_7017delinsCTCTT (p.Ser2338=)
c.6911_6915delinsCTCTT (p.Ser2304=)
c.6542_6546delinsCTCTT (p.Ser2181=)
5g.112842985_112842986insCACA2674868871APCc.7445_7446insCA (p.Leu2483IlefsTer21)
c.*7397_*7398insCA (n.*7397_*7398insCA)
c.7337_7338insCA (p.Leu2447IlefsTer21)
c.7391_7392insCA (p.Leu2465IlefsTer21)
c.231-13664_231-13663insCA
c.7421_7422insCA (p.Leu2475IlefsTer21)
c.7316_7317insCA (p.Leu2440IlefsTer21)
c.7307_7308insCA (p.Leu2437IlefsTer21)
c.7268_7269insCA (p.Leu2424IlefsTer21)
c.7214_7215insCA (p.Leu2406IlefsTer21)
c.7118_7119insCA (p.Leu2374IlefsTer21)
c.7088_7089insCA (p.Leu2364IlefsTer21)
c.7013_7014insCA (p.Leu2339IlefsTer21)
c.6911_6912insCA (p.Leu2305IlefsTer21)
c.6542_6543insCA (p.Leu2182IlefsTer21)
gnomAD v4
5g.112842986T>ACA047904APCc.7446T>A (p.Ser2482=)
c.*7398T>A (n.*7398T>A)
c.7338T>A (p.Ser2446=)
c.7392T>A (p.Ser2464=)
c.231-13663T>A
c.7422T>A (p.Ser2474=)
c.7317T>A (p.Ser2439=)
c.7308T>A (p.Ser2436=)
c.7269T>A (p.Ser2423=)
c.7215T>A (p.Ser2405=)
c.7119T>A (p.Ser2373=)
c.7089T>A (p.Ser2363=)
c.7014T>A (p.Ser2338=)
c.6912T>A (p.Ser2304=)
c.6543T>A (p.Ser2181=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842986T>CCA446210553APCc.7446T>C (p.Ser2482=)
c.*7398T>C (n.*7398T>C)
c.7338T>C (p.Ser2446=)
c.7392T>C (p.Ser2464=)
c.231-13663T>C
c.7422T>C (p.Ser2474=)
c.7317T>C (p.Ser2439=)
c.7308T>C (p.Ser2436=)
c.7269T>C (p.Ser2423=)
c.7215T>C (p.Ser2405=)
c.7119T>C (p.Ser2373=)
c.7089T>C (p.Ser2363=)
c.7014T>C (p.Ser2338=)
c.6912T>C (p.Ser2304=)
c.6543T>C (p.Ser2181=)
ClinVar dbSNP
5g.112842986T>GCA446210554APCc.7446T>G (p.Ser2482=)
c.*7398T>G (n.*7398T>G)
c.7338T>G (p.Ser2446=)
c.7392T>G (p.Ser2464=)
c.231-13663T>G
c.7422T>G (p.Ser2474=)
c.7317T>G (p.Ser2439=)
c.7308T>G (p.Ser2436=)
c.7269T>G (p.Ser2423=)
c.7215T>G (p.Ser2405=)
c.7119T>G (p.Ser2373=)
c.7089T>G (p.Ser2363=)
c.7014T>G (p.Ser2338=)
c.6912T>G (p.Ser2304=)
c.6543T>G (p.Ser2181=)
5g.112842986T=CA1573470084APCc.7446T= (p.Ser2482=)
c.*7398T= (n.*7398T=)
c.7338T= (p.Ser2446=)
c.7392T= (p.Ser2464=)
c.231-13663T=
c.7422T= (p.Ser2474=)
c.7317T= (p.Ser2439=)
c.7308T= (p.Ser2436=)
c.7269T= (p.Ser2423=)
c.7215T= (p.Ser2405=)
c.7119T= (p.Ser2373=)
c.7089T= (p.Ser2363=)
c.7014T= (p.Ser2338=)
c.6912T= (p.Ser2304=)
c.6543T= (p.Ser2181=)
5g.112842989_112842992delCA915943520APCc.7449_7452del (p.Ser2484HisfsTer18)
c.*7401_*7404del (n.*7401_*7404del)
c.7341_7344del (p.Ser2448HisfsTer18)
c.7395_7398del (p.Ser2466HisfsTer18)
c.231-13660_231-13657del
c.7425_7428del (p.Ser2476HisfsTer18)
c.7320_7323del (p.Ser2441HisfsTer18)
c.7311_7314del (p.Ser2438HisfsTer18)
c.7272_7275del (p.Ser2425HisfsTer18)
c.7218_7221del (p.Ser2407HisfsTer18)
c.7122_7125del (p.Ser2375HisfsTer18)
c.7092_7095del (p.Ser2365HisfsTer18)
c.7017_7020del (p.Ser2340HisfsTer18)
c.6915_6918del (p.Ser2306HisfsTer18)
c.6546_6549del (p.Ser2183HisfsTer18)
ClinVar dbSNP
5g.112842987C>ACA16037432APCc.7447C>A (p.Leu2483Ile)
c.*7399C>A (n.*7399C>A)
c.7339C>A (p.Leu2447Ile)
c.7393C>A (p.Leu2465Ile)
c.231-13662C>A
c.7423C>A (p.Leu2475Ile)
c.7318C>A (p.Leu2440Ile)
c.7309C>A (p.Leu2437Ile)
c.7270C>A (p.Leu2424Ile)
c.7216C>A (p.Leu2406Ile)
c.7120C>A (p.Leu2374Ile)
c.7090C>A (p.Leu2364Ile)
c.7015C>A (p.Leu2339Ile)
c.6913C>A (p.Leu2305Ile)
c.6544C>A (p.Leu2182Ile)
dbSNP
5g.112842987C=CA1573470105APCc.7447C= (p.Leu2483=)
c.*7399C= (n.*7399C=)
c.7339C= (p.Leu2447=)
c.7393C= (p.Leu2465=)
c.231-13662C=
c.7423C= (p.Leu2475=)
c.7318C= (p.Leu2440=)
c.7309C= (p.Leu2437=)
c.7270C= (p.Leu2424=)
c.7216C= (p.Leu2406=)
c.7120C= (p.Leu2374=)
c.7090C= (p.Leu2364=)
c.7015C= (p.Leu2339=)
c.6913C= (p.Leu2305=)
c.6544C= (p.Leu2182=)
5g.112842987C>GCA16037433APCc.7447C>G (p.Leu2483Val)
c.*7399C>G (n.*7399C>G)
c.7339C>G (p.Leu2447Val)
c.7393C>G (p.Leu2465Val)
c.231-13662C>G
c.7423C>G (p.Leu2475Val)
c.7318C>G (p.Leu2440Val)
c.7309C>G (p.Leu2437Val)
c.7270C>G (p.Leu2424Val)
c.7216C>G (p.Leu2406Val)
c.7120C>G (p.Leu2374Val)
c.7090C>G (p.Leu2364Val)
c.7015C>G (p.Leu2339Val)
c.6913C>G (p.Leu2305Val)
c.6544C>G (p.Leu2182Val)
ClinVar dbSNP gnomAD v4
5g.112842987C>TCA16037434APCc.7447C>T (p.Leu2483Phe)
c.*7399C>T (n.*7399C>T)
c.7339C>T (p.Leu2447Phe)
c.7393C>T (p.Leu2465Phe)
c.231-13662C>T
c.7423C>T (p.Leu2475Phe)
c.7318C>T (p.Leu2440Phe)
c.7309C>T (p.Leu2437Phe)
c.7270C>T (p.Leu2424Phe)
c.7216C>T (p.Leu2406Phe)
c.7120C>T (p.Leu2374Phe)
c.7090C>T (p.Leu2364Phe)
c.7015C>T (p.Leu2339Phe)
c.6913C>T (p.Leu2305Phe)
c.6544C>T (p.Leu2182Phe)
dbSNP
5g.112842988T>ACA16037435APCc.7448T>A (p.Leu2483His)
c.*7400T>A (n.*7400T>A)
c.7340T>A (p.Leu2447His)
c.7394T>A (p.Leu2465His)
c.231-13661T>A
c.7424T>A (p.Leu2475His)
c.7319T>A (p.Leu2440His)
c.7310T>A (p.Leu2437His)
c.7271T>A (p.Leu2424His)
c.7217T>A (p.Leu2406His)
c.7121T>A (p.Leu2374His)
c.7091T>A (p.Leu2364His)
c.7016T>A (p.Leu2339His)
c.6914T>A (p.Leu2305His)
c.6545T>A (p.Leu2182His)
dbSNP
5g.112842988T>CCA16037436APCc.7448T>C (p.Leu2483Pro)
c.*7400T>C (n.*7400T>C)
c.7340T>C (p.Leu2447Pro)
c.7394T>C (p.Leu2465Pro)
c.231-13661T>C
c.7424T>C (p.Leu2475Pro)
c.7319T>C (p.Leu2440Pro)
c.7310T>C (p.Leu2437Pro)
c.7271T>C (p.Leu2424Pro)
c.7217T>C (p.Leu2406Pro)
c.7121T>C (p.Leu2374Pro)
c.7091T>C (p.Leu2364Pro)
c.7016T>C (p.Leu2339Pro)
c.6914T>C (p.Leu2305Pro)
c.6545T>C (p.Leu2182Pro)
dbSNP gnomAD v4
5g.112842988T>GCA16037437APCc.7448T>G (p.Leu2483Arg)
c.*7400T>G (n.*7400T>G)
c.7340T>G (p.Leu2447Arg)
c.7394T>G (p.Leu2465Arg)
c.231-13661T>G
c.7424T>G (p.Leu2475Arg)
c.7319T>G (p.Leu2440Arg)
c.7310T>G (p.Leu2437Arg)
c.7271T>G (p.Leu2424Arg)
c.7217T>G (p.Leu2406Arg)
c.7121T>G (p.Leu2374Arg)
c.7091T>G (p.Leu2364Arg)
c.7016T>G (p.Leu2339Arg)
c.6914T>G (p.Leu2305Arg)
c.6545T>G (p.Leu2182Arg)
5g.112842989_112842990dupCA2580072376APCc.7449_7450dup (p.Ser2484PhefsTer20)
c.*7401_*7402dup (n.*7401_*7402dup)
c.7341_7342dup (p.Ser2448PhefsTer20)
c.7395_7396dup (p.Ser2466PhefsTer20)
c.231-13660_231-13659dup
c.7425_7426dup (p.Ser2476PhefsTer20)
c.7320_7321dup (p.Ser2441PhefsTer20)
c.7311_7312dup (p.Ser2438PhefsTer20)
c.7272_7273dup (p.Ser2425PhefsTer20)
c.7218_7219dup (p.Ser2407PhefsTer20)
c.7122_7123dup (p.Ser2375PhefsTer20)
c.7092_7093dup (p.Ser2365PhefsTer20)
c.7017_7018dup (p.Ser2340PhefsTer20)
c.6915_6916dup (p.Ser2306PhefsTer20)
c.6546_6547dup (p.Ser2183PhefsTer20)
ClinVar
5g.112842988_112842989insGCCA2674868893APCc.7448_7449insGC (p.Ser2484LeufsTer20)
c.*7400_*7401insGC (n.*7400_*7401insGC)
c.7340_7341insGC (p.Ser2448LeufsTer20)
c.7394_7395insGC (p.Ser2466LeufsTer20)
c.231-13661_231-13660insGC
c.7424_7425insGC (p.Ser2476LeufsTer20)
c.7319_7320insGC (p.Ser2441LeufsTer20)
c.7310_7311insGC (p.Ser2438LeufsTer20)
c.7271_7272insGC (p.Ser2425LeufsTer20)
c.7217_7218insGC (p.Ser2407LeufsTer20)
c.7121_7122insGC (p.Ser2375LeufsTer20)
c.7091_7092insGC (p.Ser2365LeufsTer20)
c.7016_7017insGC (p.Ser2340LeufsTer20)
c.6914_6915insGC (p.Ser2306LeufsTer20)
c.6545_6546insGC (p.Ser2183LeufsTer20)
gnomAD v4
5g.112842989T>ACA446210555APCc.7449T>A (p.Leu2483=)
c.*7401T>A (n.*7401T>A)
c.7341T>A (p.Leu2447=)
c.7395T>A (p.Leu2465=)
c.231-13660T>A
c.7425T>A (p.Leu2475=)
c.7320T>A (p.Leu2440=)
c.7311T>A (p.Leu2437=)
c.7272T>A (p.Leu2424=)
c.7218T>A (p.Leu2406=)
c.7122T>A (p.Leu2374=)
c.7092T>A (p.Leu2364=)
c.7017T>A (p.Leu2339=)
c.6915T>A (p.Leu2305=)
c.6546T>A (p.Leu2182=)
dbSNP
5g.112842989T>CCA047917APCc.7449T>C (p.Leu2483=)
c.*7401T>C (n.*7401T>C)
c.7341T>C (p.Leu2447=)
c.7395T>C (p.Leu2465=)
c.231-13660T>C
c.7425T>C (p.Leu2475=)
c.7320T>C (p.Leu2440=)
c.7311T>C (p.Leu2437=)
c.7272T>C (p.Leu2424=)
c.7218T>C (p.Leu2406=)
c.7122T>C (p.Leu2374=)
c.7092T>C (p.Leu2364=)
c.7017T>C (p.Leu2339=)
c.6915T>C (p.Leu2305=)
c.6546T>C (p.Leu2182=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842989T>GCA446210556APCc.7449T>G (p.Leu2483=)
c.*7401T>G (n.*7401T>G)
c.7341T>G (p.Leu2447=)
c.7395T>G (p.Leu2465=)
c.231-13660T>G
c.7425T>G (p.Leu2475=)
c.7320T>G (p.Leu2440=)
c.7311T>G (p.Leu2437=)
c.7272T>G (p.Leu2424=)
c.7218T>G (p.Leu2406=)
c.7122T>G (p.Leu2374=)
c.7092T>G (p.Leu2364=)
c.7017T>G (p.Leu2339=)
c.6915T>G (p.Leu2305=)
c.6546T>G (p.Leu2182=)
ClinVar dbSNP
5g.112842989T=CA1573470149APCc.7449T= (p.Leu2483=)
c.*7401T= (n.*7401T=)
c.7341T= (p.Leu2447=)
c.7395T= (p.Leu2465=)
c.231-13660T=
c.7425T= (p.Leu2475=)
c.7320T= (p.Leu2440=)
c.7311T= (p.Leu2437=)
c.7272T= (p.Leu2424=)
c.7218T= (p.Leu2406=)
c.7122T= (p.Leu2374=)
c.7092T= (p.Leu2364=)
c.7017T= (p.Leu2339=)
c.6915T= (p.Leu2305=)
c.6546T= (p.Leu2182=)
5g.112842989_112842990insGGCA2674868905APCc.7449_7450insGG (p.Ser2484GlyfsTer20)
c.*7401_*7402insGG (n.*7401_*7402insGG)
c.7341_7342insGG (p.Ser2448GlyfsTer20)
c.7395_7396insGG (p.Ser2466GlyfsTer20)
c.231-13660_231-13659insGG
c.7425_7426insGG (p.Ser2476GlyfsTer20)
c.7320_7321insGG (p.Ser2441GlyfsTer20)
c.7311_7312insGG (p.Ser2438GlyfsTer20)
c.7272_7273insGG (p.Ser2425GlyfsTer20)
c.7218_7219insGG (p.Ser2407GlyfsTer20)
c.7122_7123insGG (p.Ser2375GlyfsTer20)
c.7092_7093insGG (p.Ser2365GlyfsTer20)
c.7017_7018insGG (p.Ser2340GlyfsTer20)
c.6915_6916insGG (p.Ser2306GlyfsTer20)
c.6546_6547insGG (p.Ser2183GlyfsTer20)
gnomAD v4
5g.112842990T>ACA16037438APCc.7450T>A (p.Ser2484Thr)
c.*7402T>A (n.*7402T>A)
c.7342T>A (p.Ser2448Thr)
c.7396T>A (p.Ser2466Thr)
c.231-13659T>A
c.7426T>A (p.Ser2476Thr)
c.7321T>A (p.Ser2441Thr)
c.7312T>A (p.Ser2438Thr)
c.7273T>A (p.Ser2425Thr)
c.7219T>A (p.Ser2407Thr)
c.7123T>A (p.Ser2375Thr)
c.7093T>A (p.Ser2365Thr)
c.7018T>A (p.Ser2340Thr)
c.6916T>A (p.Ser2306Thr)
c.6547T>A (p.Ser2183Thr)
dbSNP
5g.112842990T>CCA013643APCc.7450T>C (p.Ser2484Pro)
c.*7402T>C (n.*7402T>C)
c.7342T>C (p.Ser2448Pro)
c.7396T>C (p.Ser2466Pro)
c.231-13659T>C
c.7426T>C (p.Ser2476Pro)
c.7321T>C (p.Ser2441Pro)
c.7312T>C (p.Ser2438Pro)
c.7273T>C (p.Ser2425Pro)
c.7219T>C (p.Ser2407Pro)
c.7123T>C (p.Ser2375Pro)
c.7093T>C (p.Ser2365Pro)
c.7018T>C (p.Ser2340Pro)
c.6916T>C (p.Ser2306Pro)
c.6547T>C (p.Ser2183Pro)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112842990T>GCA16037439APCc.7450T>G (p.Ser2484Ala)
c.*7402T>G (n.*7402T>G)
c.7342T>G (p.Ser2448Ala)
c.7396T>G (p.Ser2466Ala)
c.231-13659T>G
c.7426T>G (p.Ser2476Ala)
c.7321T>G (p.Ser2441Ala)
c.7312T>G (p.Ser2438Ala)
c.7273T>G (p.Ser2425Ala)
c.7219T>G (p.Ser2407Ala)
c.7123T>G (p.Ser2375Ala)
c.7093T>G (p.Ser2365Ala)
c.7018T>G (p.Ser2340Ala)
c.6916T>G (p.Ser2306Ala)
c.6547T>G (p.Ser2183Ala)
5g.112842990T=CA1573470169APCc.7450T= (p.Ser2484=)
c.*7402T= (n.*7402T=)
c.7342T= (p.Ser2448=)
c.7396T= (p.Ser2466=)
c.231-13659T=
c.7426T= (p.Ser2476=)
c.7321T= (p.Ser2441=)
c.7312T= (p.Ser2438=)
c.7273T= (p.Ser2425=)
c.7219T= (p.Ser2407=)
c.7123T= (p.Ser2375=)
c.7093T= (p.Ser2365=)
c.7018T= (p.Ser2340=)
c.6916T= (p.Ser2306=)
c.6547T= (p.Ser2183=)
5g.112842991C>ACA16037440APCc.7451C>A (p.Ser2484Tyr)
c.*7403C>A (n.*7403C>A)
c.7343C>A (p.Ser2448Tyr)
c.7397C>A (p.Ser2466Tyr)
c.231-13658C>A
c.7427C>A (p.Ser2476Tyr)
c.7322C>A (p.Ser2441Tyr)
c.7313C>A (p.Ser2438Tyr)
c.7274C>A (p.Ser2425Tyr)
c.7220C>A (p.Ser2407Tyr)
c.7124C>A (p.Ser2375Tyr)
c.7094C>A (p.Ser2365Tyr)
c.7019C>A (p.Ser2340Tyr)
c.6917C>A (p.Ser2306Tyr)
c.6548C>A (p.Ser2183Tyr)
ClinVar dbSNP COSMIC
5g.112842991C=CA1573470182APCc.7451C= (p.Ser2484=)
c.*7403C= (n.*7403C=)
c.7343C= (p.Ser2448=)
c.7397C= (p.Ser2466=)
c.231-13658C=
c.7427C= (p.Ser2476=)
c.7322C= (p.Ser2441=)
c.7313C= (p.Ser2438=)
c.7274C= (p.Ser2425=)
c.7220C= (p.Ser2407=)
c.7124C= (p.Ser2375=)
c.7094C= (p.Ser2365=)
c.7019C= (p.Ser2340=)
c.6917C= (p.Ser2306=)
c.6548C= (p.Ser2183=)
5g.112842991C>GCA16037441APCc.7451C>G (p.Ser2484Cys)
c.*7403C>G (n.*7403C>G)
c.7343C>G (p.Ser2448Cys)
c.7397C>G (p.Ser2466Cys)
c.231-13658C>G
c.7427C>G (p.Ser2476Cys)
c.7322C>G (p.Ser2441Cys)
c.7313C>G (p.Ser2438Cys)
c.7274C>G (p.Ser2425Cys)
c.7220C>G (p.Ser2407Cys)
c.7124C>G (p.Ser2375Cys)
c.7094C>G (p.Ser2365Cys)
c.7019C>G (p.Ser2340Cys)
c.6917C>G (p.Ser2306Cys)
c.6548C>G (p.Ser2183Cys)
dbSNP
5g.112842991C>TCA047929APCc.7451C>T (p.Ser2484Phe)
c.*7403C>T (n.*7403C>T)
c.7343C>T (p.Ser2448Phe)
c.7397C>T (p.Ser2466Phe)
c.231-13658C>T
c.7427C>T (p.Ser2476Phe)
c.7322C>T (p.Ser2441Phe)
c.7313C>T (p.Ser2438Phe)
c.7274C>T (p.Ser2425Phe)
c.7220C>T (p.Ser2407Phe)
c.7124C>T (p.Ser2375Phe)
c.7094C>T (p.Ser2365Phe)
c.7019C>T (p.Ser2340Phe)
c.6917C>T (p.Ser2306Phe)
c.6548C>T (p.Ser2183Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842992T>ACA446210563APCc.7452T>A (p.Ser2484=)
c.*7404T>A (n.*7404T>A)
c.7344T>A (p.Ser2448=)
c.7398T>A (p.Ser2466=)
c.231-13657T>A
c.7428T>A (p.Ser2476=)
c.7323T>A (p.Ser2441=)
c.7314T>A (p.Ser2438=)
c.7275T>A (p.Ser2425=)
c.7221T>A (p.Ser2407=)
c.7125T>A (p.Ser2375=)
c.7095T>A (p.Ser2365=)
c.7020T>A (p.Ser2340=)
c.6918T>A (p.Ser2306=)
c.6549T>A (p.Ser2183=)
ClinVar dbSNP
5g.112842992T>CCA446210565APCc.7452T>C (p.Ser2484=)
c.*7404T>C (n.*7404T>C)
c.7344T>C (p.Ser2448=)
c.7398T>C (p.Ser2466=)
c.231-13657T>C
c.7428T>C (p.Ser2476=)
c.7323T>C (p.Ser2441=)
c.7314T>C (p.Ser2438=)
c.7275T>C (p.Ser2425=)
c.7221T>C (p.Ser2407=)
c.7125T>C (p.Ser2375=)
c.7095T>C (p.Ser2365=)
c.7020T>C (p.Ser2340=)
c.6918T>C (p.Ser2306=)
c.6549T>C (p.Ser2183=)
5g.112842992T>GCA446210566APCc.7452T>G (p.Ser2484=)
c.*7404T>G (n.*7404T>G)
c.7344T>G (p.Ser2448=)
c.7398T>G (p.Ser2466=)
c.231-13657T>G
c.7428T>G (p.Ser2476=)
c.7323T>G (p.Ser2441=)
c.7314T>G (p.Ser2438=)
c.7275T>G (p.Ser2425=)
c.7221T>G (p.Ser2407=)
c.7125T>G (p.Ser2375=)
c.7095T>G (p.Ser2365=)
c.7020T>G (p.Ser2340=)
c.6918T>G (p.Ser2306=)
c.6549T>G (p.Ser2183=)
5g.112842992T=CA1573470202APCc.7452T= (p.Ser2484=)
c.*7404T= (n.*7404T=)
c.7344T= (p.Ser2448=)
c.7398T= (p.Ser2466=)
c.231-13657T=
c.7428T= (p.Ser2476=)
c.7323T= (p.Ser2441=)
c.7314T= (p.Ser2438=)
c.7275T= (p.Ser2425=)
c.7221T= (p.Ser2407=)
c.7125T= (p.Ser2375=)
c.7095T= (p.Ser2365=)
c.7020T= (p.Ser2340=)
c.6918T= (p.Ser2306=)
c.6549T= (p.Ser2183=)
5g.112842993C>ACA013653APCc.7453C>A (p.Pro2485Thr)
c.*7405C>A (n.*7405C>A)
c.7345C>A (p.Pro2449Thr)
c.7399C>A (p.Pro2467Thr)
c.231-13656C>A
c.7429C>A (p.Pro2477Thr)
c.7324C>A (p.Pro2442Thr)
c.7315C>A (p.Pro2439Thr)
c.7276C>A (p.Pro2426Thr)
c.7222C>A (p.Pro2408Thr)
c.7126C>A (p.Pro2376Thr)
c.7096C>A (p.Pro2366Thr)
c.7021C>A (p.Pro2341Thr)
c.6919C>A (p.Pro2307Thr)
c.6550C>A (p.Pro2184Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112842993C=CA1573470219APCc.7453C= (p.Pro2485=)
c.*7405C= (n.*7405C=)
c.7345C= (p.Pro2449=)
c.7399C= (p.Pro2467=)
c.231-13656C=
c.7429C= (p.Pro2477=)
c.7324C= (p.Pro2442=)
c.7315C= (p.Pro2439=)
c.7276C= (p.Pro2426=)
c.7222C= (p.Pro2408=)
c.7126C= (p.Pro2376=)
c.7096C= (p.Pro2366=)
c.7021C= (p.Pro2341=)
c.6919C= (p.Pro2307=)
c.6550C= (p.Pro2184=)
5g.112842993C>GCA16037442APCc.7453C>G (p.Pro2485Ala)
c.*7405C>G (n.*7405C>G)
c.7345C>G (p.Pro2449Ala)
c.7399C>G (p.Pro2467Ala)
c.231-13656C>G
c.7429C>G (p.Pro2477Ala)
c.7324C>G (p.Pro2442Ala)
c.7315C>G (p.Pro2439Ala)
c.7276C>G (p.Pro2426Ala)
c.7222C>G (p.Pro2408Ala)
c.7126C>G (p.Pro2376Ala)
c.7096C>G (p.Pro2366Ala)
c.7021C>G (p.Pro2341Ala)
c.6919C>G (p.Pro2307Ala)
c.6550C>G (p.Pro2184Ala)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842993C>TCA16037443APCc.7453C>T (p.Pro2485Ser)
c.*7405C>T (n.*7405C>T)
c.7345C>T (p.Pro2449Ser)
c.7399C>T (p.Pro2467Ser)
c.231-13656C>T
c.7429C>T (p.Pro2477Ser)
c.7324C>T (p.Pro2442Ser)
c.7315C>T (p.Pro2439Ser)
c.7276C>T (p.Pro2426Ser)
c.7222C>T (p.Pro2408Ser)
c.7126C>T (p.Pro2376Ser)
c.7096C>T (p.Pro2366Ser)
c.7021C>T (p.Pro2341Ser)
c.6919C>T (p.Pro2307Ser)
c.6550C>T (p.Pro2184Ser)
ClinVar dbSNP gnomAD v4
5g.112842993_112842996delinsCCATCA1573470234APCc.7453_7456delinsCCAT (p.Pro2485=)
c.*7405_*7408delinsCCAT (n.*7405_*7408delinsCCAT)
c.7345_7348delinsCCAT (p.Pro2449=)
c.7399_7402delinsCCAT (p.Pro2467=)
c.231-13656_231-13653delinsCCAT
c.7429_7432delinsCCAT (p.Pro2477=)
c.7324_7327delinsCCAT (p.Pro2442=)
c.7315_7318delinsCCAT (p.Pro2439=)
c.7276_7279delinsCCAT (p.Pro2426=)
c.7222_7225delinsCCAT (p.Pro2408=)
c.7126_7129delinsCCAT (p.Pro2376=)
c.7096_7099delinsCCAT (p.Pro2366=)
c.7021_7024delinsCCAT (p.Pro2341=)
c.6919_6922delinsCCAT (p.Pro2307=)
c.6550_6553delinsCCAT (p.Pro2184=)
5g.112842994C>ACA16037444APCc.7454C>A (p.Pro2485Gln)
c.*7406C>A (n.*7406C>A)
c.7346C>A (p.Pro2449Gln)
c.7400C>A (p.Pro2467Gln)
c.231-13655C>A
c.7430C>A (p.Pro2477Gln)
c.7325C>A (p.Pro2442Gln)
c.7316C>A (p.Pro2439Gln)
c.7277C>A (p.Pro2426Gln)
c.7223C>A (p.Pro2408Gln)
c.7127C>A (p.Pro2376Gln)
c.7097C>A (p.Pro2366Gln)
c.7022C>A (p.Pro2341Gln)
c.6920C>A (p.Pro2307Gln)
c.6551C>A (p.Pro2184Gln)
dbSNP
5g.112842994C=CA1573470260APCc.7454C= (p.Pro2485=)
c.*7406C= (n.*7406C=)
c.7346C= (p.Pro2449=)
c.7400C= (p.Pro2467=)
c.231-13655C=
c.7430C= (p.Pro2477=)
c.7325C= (p.Pro2442=)
c.7316C= (p.Pro2439=)
c.7277C= (p.Pro2426=)
c.7223C= (p.Pro2408=)
c.7127C= (p.Pro2376=)
c.7097C= (p.Pro2366=)
c.7022C= (p.Pro2341=)
c.6920C= (p.Pro2307=)
c.6551C= (p.Pro2184=)
5g.112842994C>GCA047958APCc.7454C>G (p.Pro2485Arg)
c.*7406C>G (n.*7406C>G)
c.7346C>G (p.Pro2449Arg)
c.7400C>G (p.Pro2467Arg)
c.231-13655C>G
c.7430C>G (p.Pro2477Arg)
c.7325C>G (p.Pro2442Arg)
c.7316C>G (p.Pro2439Arg)
c.7277C>G (p.Pro2426Arg)
c.7223C>G (p.Pro2408Arg)
c.7127C>G (p.Pro2376Arg)
c.7097C>G (p.Pro2366Arg)
c.7022C>G (p.Pro2341Arg)
c.6920C>G (p.Pro2307Arg)
c.6551C>G (p.Pro2184Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842994C>TCA047974APCc.7454C>T (p.Pro2485Leu)
c.*7406C>T (n.*7406C>T)
c.7346C>T (p.Pro2449Leu)
c.7400C>T (p.Pro2467Leu)
c.231-13655C>T
c.7430C>T (p.Pro2477Leu)
c.7325C>T (p.Pro2442Leu)
c.7316C>T (p.Pro2439Leu)
c.7277C>T (p.Pro2426Leu)
c.7223C>T (p.Pro2408Leu)
c.7127C>T (p.Pro2376Leu)
c.7097C>T (p.Pro2366Leu)
c.7022C>T (p.Pro2341Leu)
c.6920C>T (p.Pro2307Leu)
c.6551C>T (p.Pro2184Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842998_112843000delCA915943521APCc.7458_7460del (p.Ser2487del)
c.*7410_*7412del (n.*7410_*7412del)
c.7350_7352del (p.Ser2451del)
c.7404_7406del (p.Ser2469del)
c.231-13651_231-13649del
c.7434_7436del (p.Ser2479del)
c.7329_7331del (p.Ser2444del)
c.7320_7322del (p.Ser2441del)
c.7281_7283del (p.Ser2428del)
c.7227_7229del (p.Ser2410del)
c.7131_7133del (p.Ser2378del)
c.7101_7103del (p.Ser2368del)
c.7026_7028del (p.Ser2343del)
c.6924_6926del (p.Ser2309del)
c.6555_6557del (p.Ser2186del)
ClinVar dbSNP gnomAD v4
5g.112842995delCA2540430963APCc.7455del (p.Ser2486HisfsTer17)
c.*7407del (n.*7407del)
c.7347del (p.Ser2450HisfsTer17)
c.7401del (p.Ser2468HisfsTer17)
c.231-13654del
c.7431del (p.Ser2478HisfsTer17)
c.7326del (p.Ser2443HisfsTer17)
c.7317del (p.Ser2440HisfsTer17)
c.7278del (p.Ser2427HisfsTer17)
c.7224del (p.Ser2409HisfsTer17)
c.7128del (p.Ser2377HisfsTer17)
c.7098del (p.Ser2367HisfsTer17)
c.7023del (p.Ser2342HisfsTer17)
c.6921del (p.Ser2308HisfsTer17)
c.6552del (p.Ser2185HisfsTer17)
5g.112842995A=CA1573470299APCc.7455A= (p.Pro2485=)
c.*7407A= (n.*7407A=)
c.7347A= (p.Pro2449=)
c.7401A= (p.Pro2467=)
c.231-13654A=
c.7431A= (p.Pro2477=)
c.7326A= (p.Pro2442=)
c.7317A= (p.Pro2439=)
c.7278A= (p.Pro2426=)
c.7224A= (p.Pro2408=)
c.7128A= (p.Pro2376=)
c.7098A= (p.Pro2366=)
c.7023A= (p.Pro2341=)
c.6921A= (p.Pro2307=)
c.6552A= (p.Pro2184=)
5g.112842995A>CCA446210567APCc.7455A>C (p.Pro2485=)
c.*7407A>C (n.*7407A>C)
c.7347A>C (p.Pro2449=)
c.7401A>C (p.Pro2467=)
c.231-13654A>C
c.7431A>C (p.Pro2477=)
c.7326A>C (p.Pro2442=)
c.7317A>C (p.Pro2439=)
c.7278A>C (p.Pro2426=)
c.7224A>C (p.Pro2408=)
c.7128A>C (p.Pro2376=)
c.7098A>C (p.Pro2366=)
c.7023A>C (p.Pro2341=)
c.6921A>C (p.Pro2307=)
c.6552A>C (p.Pro2184=)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842995A>GCA446210568APCc.7455A>G (p.Pro2485=)
c.*7407A>G (n.*7407A>G)
c.7347A>G (p.Pro2449=)
c.7401A>G (p.Pro2467=)
c.231-13654A>G
c.7431A>G (p.Pro2477=)
c.7326A>G (p.Pro2442=)
c.7317A>G (p.Pro2439=)
c.7278A>G (p.Pro2426=)
c.7224A>G (p.Pro2408=)
c.7128A>G (p.Pro2376=)
c.7098A>G (p.Pro2366=)
c.7023A>G (p.Pro2341=)
c.6921A>G (p.Pro2307=)
c.6552A>G (p.Pro2184=)
ClinVar dbSNP gnomAD v4
5g.112842995A>TCA446210569APCc.7455A>T (p.Pro2485=)
c.*7407A>T (n.*7407A>T)
c.7347A>T (p.Pro2449=)
c.7401A>T (p.Pro2467=)
c.231-13654A>T
c.7431A>T (p.Pro2477=)
c.7326A>T (p.Pro2442=)
c.7317A>T (p.Pro2439=)
c.7278A>T (p.Pro2426=)
c.7224A>T (p.Pro2408=)
c.7128A>T (p.Pro2376=)
c.7098A>T (p.Pro2366=)
c.7023A>T (p.Pro2341=)
c.6921A>T (p.Pro2307=)
c.6552A>T (p.Pro2184=)
dbSNP
5g.112842996T>ACA16037445APCc.7456T>A (p.Ser2486Thr)
c.*7408T>A (n.*7408T>A)
c.7348T>A (p.Ser2450Thr)
c.7402T>A (p.Ser2468Thr)
c.231-13653T>A
c.7432T>A (p.Ser2478Thr)
c.7327T>A (p.Ser2443Thr)
c.7318T>A (p.Ser2440Thr)
c.7279T>A (p.Ser2427Thr)
c.7225T>A (p.Ser2409Thr)
c.7129T>A (p.Ser2377Thr)
c.7099T>A (p.Ser2367Thr)
c.7024T>A (p.Ser2342Thr)
c.6922T>A (p.Ser2308Thr)
c.6553T>A (p.Ser2185Thr)
dbSNP
5g.112842996T>CCA013665APCc.7456T>C (p.Ser2486Pro)
c.*7408T>C (n.*7408T>C)
c.7348T>C (p.Ser2450Pro)
c.7402T>C (p.Ser2468Pro)
c.231-13653T>C
c.7432T>C (p.Ser2478Pro)
c.7327T>C (p.Ser2443Pro)
c.7318T>C (p.Ser2440Pro)
c.7279T>C (p.Ser2427Pro)
c.7225T>C (p.Ser2409Pro)
c.7129T>C (p.Ser2377Pro)
c.7099T>C (p.Ser2367Pro)
c.7024T>C (p.Ser2342Pro)
c.6922T>C (p.Ser2308Pro)
c.6553T>C (p.Ser2185Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842996T>GCA047997APCc.7456T>G (p.Ser2486Ala)
c.*7408T>G (n.*7408T>G)
c.7348T>G (p.Ser2450Ala)
c.7402T>G (p.Ser2468Ala)
c.231-13653T>G
c.7432T>G (p.Ser2478Ala)
c.7327T>G (p.Ser2443Ala)
c.7318T>G (p.Ser2440Ala)
c.7279T>G (p.Ser2427Ala)
c.7225T>G (p.Ser2409Ala)
c.7129T>G (p.Ser2377Ala)
c.7099T>G (p.Ser2367Ala)
c.7024T>G (p.Ser2342Ala)
c.6922T>G (p.Ser2308Ala)
c.6553T>G (p.Ser2185Ala)
ClinVar dbSNP ExAC gnomAD v2
5g.112842996T=CA1573470314APCc.7456T= (p.Ser2486=)
c.*7408T= (n.*7408T=)
c.7348T= (p.Ser2450=)
c.7402T= (p.Ser2468=)
c.231-13653T=
c.7432T= (p.Ser2478=)
c.7327T= (p.Ser2443=)
c.7318T= (p.Ser2440=)
c.7279T= (p.Ser2427=)
c.7225T= (p.Ser2409=)
c.7129T= (p.Ser2377=)
c.7099T= (p.Ser2367=)
c.7024T= (p.Ser2342=)
c.6922T= (p.Ser2308=)
c.6553T= (p.Ser2185=)
5g.112842997C>ACA16037446APCc.7457C>A (p.Ser2486Ter)
c.*7409C>A (n.*7409C>A)
c.7349C>A (p.Ser2450Ter)
c.7403C>A (p.Ser2468Ter)
c.231-13652C>A
c.7433C>A (p.Ser2478Ter)
c.7328C>A (p.Ser2443Ter)
c.7319C>A (p.Ser2440Ter)
c.7280C>A (p.Ser2427Ter)
c.7226C>A (p.Ser2409Ter)
c.7130C>A (p.Ser2377Ter)
c.7100C>A (p.Ser2367Ter)
c.7025C>A (p.Ser2342Ter)
c.6923C>A (p.Ser2308Ter)
c.6554C>A (p.Ser2185Ter)
dbSNP
5g.112842997C=CA1573470324APCc.7457C= (p.Ser2486=)
c.*7409C= (n.*7409C=)
c.7349C= (p.Ser2450=)
c.7403C= (p.Ser2468=)
c.231-13652C=
c.7433C= (p.Ser2478=)
c.7328C= (p.Ser2443=)
c.7319C= (p.Ser2440=)
c.7280C= (p.Ser2427=)
c.7226C= (p.Ser2409=)
c.7130C= (p.Ser2377=)
c.7100C= (p.Ser2367=)
c.7025C= (p.Ser2342=)
c.6923C= (p.Ser2308=)
c.6554C= (p.Ser2185=)
5g.112842997C>GCA16037447APCc.7457C>G (p.Ser2486Ter)
c.*7409C>G (n.*7409C>G)
c.7349C>G (p.Ser2450Ter)
c.7403C>G (p.Ser2468Ter)
c.231-13652C>G
c.7433C>G (p.Ser2478Ter)
c.7328C>G (p.Ser2443Ter)
c.7319C>G (p.Ser2440Ter)
c.7280C>G (p.Ser2427Ter)
c.7226C>G (p.Ser2409Ter)
c.7130C>G (p.Ser2377Ter)
c.7100C>G (p.Ser2367Ter)
c.7025C>G (p.Ser2342Ter)
c.6923C>G (p.Ser2308Ter)
c.6554C>G (p.Ser2185Ter)
ClinVar dbSNP
5g.112842997C>TCA16037448APCc.7457C>T (p.Ser2486Leu)
c.*7409C>T (n.*7409C>T)
c.7349C>T (p.Ser2450Leu)
c.7403C>T (p.Ser2468Leu)
c.231-13652C>T
c.7433C>T (p.Ser2478Leu)
c.7328C>T (p.Ser2443Leu)
c.7319C>T (p.Ser2440Leu)
c.7280C>T (p.Ser2427Leu)
c.7226C>T (p.Ser2409Leu)
c.7130C>T (p.Ser2377Leu)
c.7100C>T (p.Ser2367Leu)
c.7025C>T (p.Ser2342Leu)
c.6923C>T (p.Ser2308Leu)
c.6554C>T (p.Ser2185Leu)
ClinVar dbSNP
5g.112842997_112842998delCA2516041733APCc.7457_7458del (p.Ser2486PhefsTer2)
c.*7409_*7410del (n.*7409_*7410del)
c.7349_7350del (p.Ser2450PhefsTer2)
c.7403_7404del (p.Ser2468PhefsTer2)
c.231-13652_231-13651del
c.7433_7434del (p.Ser2478PhefsTer2)
c.7328_7329del (p.Ser2443PhefsTer2)
c.7319_7320del (p.Ser2440PhefsTer2)
c.7280_7281del (p.Ser2427PhefsTer2)
c.7226_7227del (p.Ser2409PhefsTer2)
c.7130_7131del (p.Ser2377PhefsTer2)
c.7100_7101del (p.Ser2367PhefsTer2)
c.7025_7026del (p.Ser2342PhefsTer2)
c.6923_6924del (p.Ser2308PhefsTer2)
c.6554_6555del (p.Ser2185PhefsTer2)
5g.112842998A=CA1573470341APCc.7458A= (p.Ser2486=)
c.*7410A= (n.*7410A=)
c.7350A= (p.Ser2450=)
c.7404A= (p.Ser2468=)
c.231-13651A=
c.7434A= (p.Ser2478=)
c.7329A= (p.Ser2443=)
c.7320A= (p.Ser2440=)
c.7281A= (p.Ser2427=)
c.7227A= (p.Ser2409=)
c.7131A= (p.Ser2377=)
c.7101A= (p.Ser2367=)
c.7026A= (p.Ser2342=)
c.6924A= (p.Ser2308=)
c.6555A= (p.Ser2185=)
5g.112842998A>CCA446210571APCc.7458A>C (p.Ser2486=)
c.*7410A>C (n.*7410A>C)
c.7350A>C (p.Ser2450=)
c.7404A>C (p.Ser2468=)
c.231-13651A>C
c.7434A>C (p.Ser2478=)
c.7329A>C (p.Ser2443=)
c.7320A>C (p.Ser2440=)
c.7281A>C (p.Ser2427=)
c.7227A>C (p.Ser2409=)
c.7131A>C (p.Ser2377=)
c.7101A>C (p.Ser2367=)
c.7026A>C (p.Ser2342=)
c.6924A>C (p.Ser2308=)
c.6555A>C (p.Ser2185=)
5g.112842998A>GCA338623APCc.7458A>G (p.Ser2486=)
c.*7410A>G (n.*7410A>G)
c.7350A>G (p.Ser2450=)
c.7404A>G (p.Ser2468=)
c.231-13651A>G
c.7434A>G (p.Ser2478=)
c.7329A>G (p.Ser2443=)
c.7320A>G (p.Ser2440=)
c.7281A>G (p.Ser2427=)
c.7227A>G (p.Ser2409=)
c.7131A>G (p.Ser2377=)
c.7101A>G (p.Ser2367=)
c.7026A>G (p.Ser2342=)
c.6924A>G (p.Ser2308=)
c.6555A>G (p.Ser2185=)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842998A>TCA446210575APCc.7458A>T (p.Ser2486=)
c.*7410A>T (n.*7410A>T)
c.7350A>T (p.Ser2450=)
c.7404A>T (p.Ser2468=)
c.231-13651A>T
c.7434A>T (p.Ser2478=)
c.7329A>T (p.Ser2443=)
c.7320A>T (p.Ser2440=)
c.7281A>T (p.Ser2427=)
c.7227A>T (p.Ser2409=)
c.7131A>T (p.Ser2377=)
c.7101A>T (p.Ser2367=)
c.7026A>T (p.Ser2342=)
c.6924A>T (p.Ser2308=)
c.6555A>T (p.Ser2185=)
ClinVar dbSNP
5g.112842999T>ACA16037449APCc.7459T>A (p.Ser2487Thr)
c.*7411T>A (n.*7411T>A)
c.7351T>A (p.Ser2451Thr)
c.7405T>A (p.Ser2469Thr)
c.231-13650T>A
c.7435T>A (p.Ser2479Thr)
c.7330T>A (p.Ser2444Thr)
c.7321T>A (p.Ser2441Thr)
c.7282T>A (p.Ser2428Thr)
c.7228T>A (p.Ser2410Thr)
c.7132T>A (p.Ser2378Thr)
c.7102T>A (p.Ser2368Thr)
c.7027T>A (p.Ser2343Thr)
c.6925T>A (p.Ser2309Thr)
c.6556T>A (p.Ser2186Thr)
ClinVar dbSNP
5g.112842999T>CCA16037450APCc.7459T>C (p.Ser2487Pro)
c.*7411T>C (n.*7411T>C)
c.7351T>C (p.Ser2451Pro)
c.7405T>C (p.Ser2469Pro)
c.231-13650T>C
c.7435T>C (p.Ser2479Pro)
c.7330T>C (p.Ser2444Pro)
c.7321T>C (p.Ser2441Pro)
c.7282T>C (p.Ser2428Pro)
c.7228T>C (p.Ser2410Pro)
c.7132T>C (p.Ser2378Pro)
c.7102T>C (p.Ser2368Pro)
c.7027T>C (p.Ser2343Pro)
c.6925T>C (p.Ser2309Pro)
c.6556T>C (p.Ser2186Pro)
ClinVar dbSNP
5g.112842999T>GCA16037451APCc.7459T>G (p.Ser2487Ala)
c.*7411T>G (n.*7411T>G)
c.7351T>G (p.Ser2451Ala)
c.7405T>G (p.Ser2469Ala)
c.231-13650T>G
c.7435T>G (p.Ser2479Ala)
c.7330T>G (p.Ser2444Ala)
c.7321T>G (p.Ser2441Ala)
c.7282T>G (p.Ser2428Ala)
c.7228T>G (p.Ser2410Ala)
c.7132T>G (p.Ser2378Ala)
c.7102T>G (p.Ser2368Ala)
c.7027T>G (p.Ser2343Ala)
c.6925T>G (p.Ser2309Ala)
c.6556T>G (p.Ser2186Ala)
5g.112842999T=CA1573470354APCc.7459T= (p.Ser2487=)
c.*7411T= (n.*7411T=)
c.7351T= (p.Ser2451=)
c.7405T= (p.Ser2469=)
c.231-13650T=
c.7435T= (p.Ser2479=)
c.7330T= (p.Ser2444=)
c.7321T= (p.Ser2441=)
c.7282T= (p.Ser2428=)
c.7228T= (p.Ser2410=)
c.7132T= (p.Ser2378=)
c.7102T= (p.Ser2368=)
c.7027T= (p.Ser2343=)
c.6925T= (p.Ser2309=)
c.6556T= (p.Ser2186=)
5g.112843000C>ACA16037452APCc.7460C>A (p.Ser2487Tyr)
c.*7412C>A (n.*7412C>A)
c.7352C>A (p.Ser2451Tyr)
c.7406C>A (p.Ser2469Tyr)
c.231-13649C>A
c.7436C>A (p.Ser2479Tyr)
c.7331C>A (p.Ser2444Tyr)
c.7322C>A (p.Ser2441Tyr)
c.7283C>A (p.Ser2428Tyr)
c.7229C>A (p.Ser2410Tyr)
c.7133C>A (p.Ser2378Tyr)
c.7103C>A (p.Ser2368Tyr)
c.7028C>A (p.Ser2343Tyr)
c.6926C>A (p.Ser2309Tyr)
c.6557C>A (p.Ser2186Tyr)
ClinVar dbSNP
5g.112843000C=CA1573470374APCc.7460C= (p.Ser2487=)
c.*7412C= (n.*7412C=)
c.7352C= (p.Ser2451=)
c.7406C= (p.Ser2469=)
c.231-13649C=
c.7436C= (p.Ser2479=)
c.7331C= (p.Ser2444=)
c.7322C= (p.Ser2441=)
c.7283C= (p.Ser2428=)
c.7229C= (p.Ser2410=)
c.7133C= (p.Ser2378=)
c.7103C= (p.Ser2368=)
c.7028C= (p.Ser2343=)
c.6926C= (p.Ser2309=)
c.6557C= (p.Ser2186=)
5g.112843000C>GCA16037453APCc.7460C>G (p.Ser2487Cys)
c.*7412C>G (n.*7412C>G)
c.7352C>G (p.Ser2451Cys)
c.7406C>G (p.Ser2469Cys)
c.231-13649C>G
c.7436C>G (p.Ser2479Cys)
c.7331C>G (p.Ser2444Cys)
c.7322C>G (p.Ser2441Cys)
c.7283C>G (p.Ser2428Cys)
c.7229C>G (p.Ser2410Cys)
c.7133C>G (p.Ser2378Cys)
c.7103C>G (p.Ser2368Cys)
c.7028C>G (p.Ser2343Cys)
c.6926C>G (p.Ser2309Cys)
c.6557C>G (p.Ser2186Cys)
ClinVar dbSNP
5g.112843000C>TCA16037454APCc.7460C>T (p.Ser2487Phe)
c.*7412C>T (n.*7412C>T)
c.7352C>T (p.Ser2451Phe)
c.7406C>T (p.Ser2469Phe)
c.231-13649C>T
c.7436C>T (p.Ser2479Phe)
c.7331C>T (p.Ser2444Phe)
c.7322C>T (p.Ser2441Phe)
c.7283C>T (p.Ser2428Phe)
c.7229C>T (p.Ser2410Phe)
c.7133C>T (p.Ser2378Phe)
c.7103C>T (p.Ser2368Phe)
c.7028C>T (p.Ser2343Phe)
c.6926C>T (p.Ser2309Phe)
c.6557C>T (p.Ser2186Phe)
dbSNP COSMIC
5g.112843001T>ACA446210577APCc.7461T>A (p.Ser2487=)
c.*7413T>A (n.*7413T>A)
c.7353T>A (p.Ser2451=)
c.7407T>A (p.Ser2469=)
c.231-13648T>A
c.7437T>A (p.Ser2479=)
c.7332T>A (p.Ser2444=)
c.7323T>A (p.Ser2441=)
c.7284T>A (p.Ser2428=)
c.7230T>A (p.Ser2410=)
c.7134T>A (p.Ser2378=)
c.7104T>A (p.Ser2368=)
c.7029T>A (p.Ser2343=)
c.6927T>A (p.Ser2309=)
c.6558T>A (p.Ser2186=)
ClinVar dbSNP
5g.112843001T>CCA446210580APCc.7461T>C (p.Ser2487=)
c.*7413T>C (n.*7413T>C)
c.7353T>C (p.Ser2451=)
c.7407T>C (p.Ser2469=)
c.231-13648T>C
c.7437T>C (p.Ser2479=)
c.7332T>C (p.Ser2444=)
c.7323T>C (p.Ser2441=)
c.7284T>C (p.Ser2428=)
c.7230T>C (p.Ser2410=)
c.7134T>C (p.Ser2378=)
c.7104T>C (p.Ser2368=)
c.7029T>C (p.Ser2343=)
c.6927T>C (p.Ser2309=)
c.6558T>C (p.Ser2186=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843001T>GCA446210579APCc.7461T>G (p.Ser2487=)
c.*7413T>G (n.*7413T>G)
c.7353T>G (p.Ser2451=)
c.7407T>G (p.Ser2469=)
c.231-13648T>G
c.7437T>G (p.Ser2479=)
c.7332T>G (p.Ser2444=)
c.7323T>G (p.Ser2441=)
c.7284T>G (p.Ser2428=)
c.7230T>G (p.Ser2410=)
c.7134T>G (p.Ser2378=)
c.7104T>G (p.Ser2368=)
c.7029T>G (p.Ser2343=)
c.6927T>G (p.Ser2309=)
c.6558T>G (p.Ser2186=)
5g.112843001T=CA1573470391APCc.7461T= (p.Ser2487=)
c.*7413T= (n.*7413T=)
c.7353T= (p.Ser2451=)
c.7407T= (p.Ser2469=)
c.231-13648T=
c.7437T= (p.Ser2479=)
c.7332T= (p.Ser2444=)
c.7323T= (p.Ser2441=)
c.7284T= (p.Ser2428=)
c.7230T= (p.Ser2410=)
c.7134T= (p.Ser2378=)
c.7104T= (p.Ser2368=)
c.7029T= (p.Ser2343=)
c.6927T= (p.Ser2309=)
c.6558T= (p.Ser2186=)
5g.112843002A>CCA446210582APCc.7462A>C (p.Arg2488=)
c.*7414A>C (n.*7414A>C)
c.7354A>C (p.Arg2452=)
c.7408A>C (p.Arg2470=)
c.231-13647A>C
c.7438A>C (p.Arg2480=)
c.7333A>C (p.Arg2445=)
c.7324A>C (p.Arg2442=)
c.7285A>C (p.Arg2429=)
c.7231A>C (p.Arg2411=)
c.7135A>C (p.Arg2379=)
c.7105A>C (p.Arg2369=)
c.7030A>C (p.Arg2344=)
c.6928A>C (p.Arg2310=)
c.6559A>C (p.Arg2187=)
dbSNP
5g.112843002A>GCA16037455APCc.7462A>G (p.Arg2488Gly)
c.*7414A>G (n.*7414A>G)
c.7354A>G (p.Arg2452Gly)
c.7408A>G (p.Arg2470Gly)
c.231-13647A>G
c.7438A>G (p.Arg2480Gly)
c.7333A>G (p.Arg2445Gly)
c.7324A>G (p.Arg2442Gly)
c.7285A>G (p.Arg2429Gly)
c.7231A>G (p.Arg2411Gly)
c.7135A>G (p.Arg2379Gly)
c.7105A>G (p.Arg2369Gly)
c.7030A>G (p.Arg2344Gly)
c.6928A>G (p.Arg2310Gly)
c.6559A>G (p.Arg2187Gly)
COSMIC
5g.112843002A>TCA16037456APCc.7462A>T (p.Arg2488Ter)
c.*7414A>T (n.*7414A>T)
c.7354A>T (p.Arg2452Ter)
c.7408A>T (p.Arg2470Ter)
c.231-13647A>T
c.7438A>T (p.Arg2480Ter)
c.7333A>T (p.Arg2445Ter)
c.7324A>T (p.Arg2442Ter)
c.7285A>T (p.Arg2429Ter)
c.7231A>T (p.Arg2411Ter)
c.7135A>T (p.Arg2379Ter)
c.7105A>T (p.Arg2369Ter)
c.7030A>T (p.Arg2344Ter)
c.6928A>T (p.Arg2310Ter)
c.6559A>T (p.Arg2187Ter)
dbSNP
5g.112843003G>ACA16037457APCc.7463G>A (p.Arg2488Lys)
c.*7415G>A (n.*7415G>A)
c.7355G>A (p.Arg2452Lys)
c.7409G>A (p.Arg2470Lys)
c.231-13646G>A
c.7439G>A (p.Arg2480Lys)
c.7334G>A (p.Arg2445Lys)
c.7325G>A (p.Arg2442Lys)
c.7286G>A (p.Arg2429Lys)
c.7232G>A (p.Arg2411Lys)
c.7136G>A (p.Arg2379Lys)
c.7106G>A (p.Arg2369Lys)
c.7031G>A (p.Arg2344Lys)
c.6929G>A (p.Arg2310Lys)
c.6560G>A (p.Arg2187Lys)
dbSNP
5g.112843003G>CCA16037458APCc.7463G>C (p.Arg2488Thr)
c.*7415G>C (n.*7415G>C)
c.7355G>C (p.Arg2452Thr)
c.7409G>C (p.Arg2470Thr)
c.231-13646G>C
c.7439G>C (p.Arg2480Thr)
c.7334G>C (p.Arg2445Thr)
c.7325G>C (p.Arg2442Thr)
c.7286G>C (p.Arg2429Thr)
c.7232G>C (p.Arg2411Thr)
c.7136G>C (p.Arg2379Thr)
c.7106G>C (p.Arg2369Thr)
c.7031G>C (p.Arg2344Thr)
c.6929G>C (p.Arg2310Thr)
c.6560G>C (p.Arg2187Thr)
dbSNP
5g.112843003G>TCA16037459APCc.7463G>T (p.Arg2488Ile)
c.*7415G>T (n.*7415G>T)
c.7355G>T (p.Arg2452Ile)
c.7409G>T (p.Arg2470Ile)
c.231-13646G>T
c.7439G>T (p.Arg2480Ile)
c.7334G>T (p.Arg2445Ile)
c.7325G>T (p.Arg2442Ile)
c.7286G>T (p.Arg2429Ile)
c.7232G>T (p.Arg2411Ile)
c.7136G>T (p.Arg2379Ile)
c.7106G>T (p.Arg2369Ile)
c.7031G>T (p.Arg2344Ile)
c.6929G>T (p.Arg2310Ile)
c.6560G>T (p.Arg2187Ile)
ClinVar dbSNP
5g.112843004A>CCA16037460APCc.7464A>C (p.Arg2488Ser)
c.*7416A>C (n.*7416A>C)
c.7356A>C (p.Arg2452Ser)
c.7410A>C (p.Arg2470Ser)
c.231-13645A>C
c.7440A>C (p.Arg2480Ser)
c.7335A>C (p.Arg2445Ser)
c.7326A>C (p.Arg2442Ser)
c.7287A>C (p.Arg2429Ser)
c.7233A>C (p.Arg2411Ser)
c.7137A>C (p.Arg2379Ser)
c.7107A>C (p.Arg2369Ser)
c.7032A>C (p.Arg2344Ser)
c.6930A>C (p.Arg2310Ser)
c.6561A>C (p.Arg2187Ser)
5g.112843004A>GCA446210584APCc.7464A>G (p.Arg2488=)
c.*7416A>G (n.*7416A>G)
c.7356A>G (p.Arg2452=)
c.7410A>G (p.Arg2470=)
c.231-13645A>G
c.7440A>G (p.Arg2480=)
c.7335A>G (p.Arg2445=)
c.7326A>G (p.Arg2442=)
c.7287A>G (p.Arg2429=)
c.7233A>G (p.Arg2411=)
c.7137A>G (p.Arg2379=)
c.7107A>G (p.Arg2369=)
c.7032A>G (p.Arg2344=)
c.6930A>G (p.Arg2310=)
c.6561A>G (p.Arg2187=)
5g.112843004A>TCA16037461APCc.7464A>T (p.Arg2488Ser)
c.*7416A>T (n.*7416A>T)
c.7356A>T (p.Arg2452Ser)
c.7410A>T (p.Arg2470Ser)
c.231-13645A>T
c.7440A>T (p.Arg2480Ser)
c.7335A>T (p.Arg2445Ser)
c.7326A>T (p.Arg2442Ser)
c.7287A>T (p.Arg2429Ser)
c.7233A>T (p.Arg2411Ser)
c.7137A>T (p.Arg2379Ser)
c.7107A>T (p.Arg2369Ser)
c.7032A>T (p.Arg2344Ser)
c.6930A>T (p.Arg2310Ser)
c.6561A>T (p.Arg2187Ser)
ClinVar
5g.112843005C>ACA16037462APCc.7465C>A (p.Pro2489Thr)
c.*7417C>A (n.*7417C>A)
c.7357C>A (p.Pro2453Thr)
c.7411C>A (p.Pro2471Thr)
c.231-13644C>A
c.7441C>A (p.Pro2481Thr)
c.7336C>A (p.Pro2446Thr)
c.7327C>A (p.Pro2443Thr)
c.7288C>A (p.Pro2430Thr)
c.7234C>A (p.Pro2412Thr)
c.7138C>A (p.Pro2380Thr)
c.7108C>A (p.Pro2370Thr)
c.7033C>A (p.Pro2345Thr)
c.6931C>A (p.Pro2311Thr)
c.6562C>A (p.Pro2188Thr)
dbSNP gnomAD v2 gnomAD v4
5g.112843005C=CA1573470419APCc.7465C= (p.Pro2489=)
c.*7417C= (n.*7417C=)
c.7357C= (p.Pro2453=)
c.7411C= (p.Pro2471=)
c.231-13644C=
c.7441C= (p.Pro2481=)
c.7336C= (p.Pro2446=)
c.7327C= (p.Pro2443=)
c.7288C= (p.Pro2430=)
c.7234C= (p.Pro2412=)
c.7138C= (p.Pro2380=)
c.7108C= (p.Pro2370=)
c.7033C= (p.Pro2345=)
c.6931C= (p.Pro2311=)
c.6562C= (p.Pro2188=)
5g.112843005C>GCA16037463APCc.7465C>G (p.Pro2489Ala)
c.*7417C>G (n.*7417C>G)
c.7357C>G (p.Pro2453Ala)
c.7411C>G (p.Pro2471Ala)
c.231-13644C>G
c.7441C>G (p.Pro2481Ala)
c.7336C>G (p.Pro2446Ala)
c.7327C>G (p.Pro2443Ala)
c.7288C>G (p.Pro2430Ala)
c.7234C>G (p.Pro2412Ala)
c.7138C>G (p.Pro2380Ala)
c.7108C>G (p.Pro2370Ala)
c.7033C>G (p.Pro2345Ala)
c.6931C>G (p.Pro2311Ala)
c.6562C>G (p.Pro2188Ala)
ClinVar dbSNP gnomAD v4
5g.112843005C>TCA16037464APCc.7465C>T (p.Pro2489Ser)
c.*7417C>T (n.*7417C>T)
c.7357C>T (p.Pro2453Ser)
c.7411C>T (p.Pro2471Ser)
c.231-13644C>T
c.7441C>T (p.Pro2481Ser)
c.7336C>T (p.Pro2446Ser)
c.7327C>T (p.Pro2443Ser)
c.7288C>T (p.Pro2430Ser)
c.7234C>T (p.Pro2412Ser)
c.7138C>T (p.Pro2380Ser)
c.7108C>T (p.Pro2370Ser)
c.7033C>T (p.Pro2345Ser)
c.6931C>T (p.Pro2311Ser)
c.6562C>T (p.Pro2188Ser)
ClinVar dbSNP
5g.112843006C>ACA16037465APCc.7466C>A (p.Pro2489Gln)
c.*7418C>A (n.*7418C>A)
c.7358C>A (p.Pro2453Gln)
c.7412C>A (p.Pro2471Gln)
c.231-13643C>A
c.7442C>A (p.Pro2481Gln)
c.7337C>A (p.Pro2446Gln)
c.7328C>A (p.Pro2443Gln)
c.7289C>A (p.Pro2430Gln)
c.7235C>A (p.Pro2412Gln)
c.7139C>A (p.Pro2380Gln)
c.7109C>A (p.Pro2370Gln)
c.7034C>A (p.Pro2345Gln)
c.6932C>A (p.Pro2311Gln)
c.6563C>A (p.Pro2188Gln)
ClinVar dbSNP
5g.112843006C=CA1573470436APCc.7466C= (p.Pro2489=)
c.*7418C= (n.*7418C=)
c.7358C= (p.Pro2453=)
c.7412C= (p.Pro2471=)
c.231-13643C=
c.7442C= (p.Pro2481=)
c.7337C= (p.Pro2446=)
c.7328C= (p.Pro2443=)
c.7289C= (p.Pro2430=)
c.7235C= (p.Pro2412=)
c.7139C= (p.Pro2380=)
c.7109C= (p.Pro2370=)
c.7034C= (p.Pro2345=)
c.6932C= (p.Pro2311=)
c.6563C= (p.Pro2188=)
5g.112843006C>GCA16037466APCc.7466C>G (p.Pro2489Arg)
c.*7418C>G (n.*7418C>G)
c.7358C>G (p.Pro2453Arg)
c.7412C>G (p.Pro2471Arg)
c.231-13643C>G
c.7442C>G (p.Pro2481Arg)
c.7337C>G (p.Pro2446Arg)
c.7328C>G (p.Pro2443Arg)
c.7289C>G (p.Pro2430Arg)
c.7235C>G (p.Pro2412Arg)
c.7139C>G (p.Pro2380Arg)
c.7109C>G (p.Pro2370Arg)
c.7034C>G (p.Pro2345Arg)
c.6932C>G (p.Pro2311Arg)
c.6563C>G (p.Pro2188Arg)
dbSNP
5g.112843006C>TCA10578443APCc.7466C>T (p.Pro2489Leu)
c.*7418C>T (n.*7418C>T)
c.7358C>T (p.Pro2453Leu)
c.7412C>T (p.Pro2471Leu)
c.231-13643C>T
c.7442C>T (p.Pro2481Leu)
c.7337C>T (p.Pro2446Leu)
c.7328C>T (p.Pro2443Leu)
c.7289C>T (p.Pro2430Leu)
c.7235C>T (p.Pro2412Leu)
c.7139C>T (p.Pro2380Leu)
c.7109C>T (p.Pro2370Leu)
c.7034C>T (p.Pro2345Leu)
c.6932C>T (p.Pro2311Leu)
c.6563C>T (p.Pro2188Leu)
ClinVar dbSNP
5g.112843007A>CCA446210587APCc.7467A>C (p.Pro2489=)
c.*7419A>C (n.*7419A>C)
c.7359A>C (p.Pro2453=)
c.7413A>C (p.Pro2471=)
c.231-13642A>C
c.7443A>C (p.Pro2481=)
c.7338A>C (p.Pro2446=)
c.7329A>C (p.Pro2443=)
c.7290A>C (p.Pro2430=)
c.7236A>C (p.Pro2412=)
c.7140A>C (p.Pro2380=)
c.7110A>C (p.Pro2370=)
c.7035A>C (p.Pro2345=)
c.6933A>C (p.Pro2311=)
c.6564A>C (p.Pro2188=)
dbSNP
5g.112843007A>GCA446210588APCc.7467A>G (p.Pro2489=)
c.*7419A>G (n.*7419A>G)
c.7359A>G (p.Pro2453=)
c.7413A>G (p.Pro2471=)
c.231-13642A>G
c.7443A>G (p.Pro2481=)
c.7338A>G (p.Pro2446=)
c.7329A>G (p.Pro2443=)
c.7290A>G (p.Pro2430=)
c.7236A>G (p.Pro2412=)
c.7140A>G (p.Pro2380=)
c.7110A>G (p.Pro2370=)
c.7035A>G (p.Pro2345=)
c.6933A>G (p.Pro2311=)
c.6564A>G (p.Pro2188=)
5g.112843007A>TCA446210590APCc.7467A>T (p.Pro2489=)
c.*7419A>T (n.*7419A>T)
c.7359A>T (p.Pro2453=)
c.7413A>T (p.Pro2471=)
c.231-13642A>T
c.7443A>T (p.Pro2481=)
c.7338A>T (p.Pro2446=)
c.7329A>T (p.Pro2443=)
c.7290A>T (p.Pro2430=)
c.7236A>T (p.Pro2412=)
c.7140A>T (p.Pro2380=)
c.7110A>T (p.Pro2370=)
c.7035A>T (p.Pro2345=)
c.6933A>T (p.Pro2311=)
c.6564A>T (p.Pro2188=)
dbSNP
5g.112843008G>ACA16037467APCc.7468G>A (p.Ala2490Thr)
c.*7420G>A (n.*7420G>A)
c.7360G>A (p.Ala2454Thr)
c.7414G>A (p.Ala2472Thr)
c.231-13641G>A
c.7444G>A (p.Ala2482Thr)
c.7339G>A (p.Ala2447Thr)
c.7330G>A (p.Ala2444Thr)
c.7291G>A (p.Ala2431Thr)
c.7237G>A (p.Ala2413Thr)
c.7141G>A (p.Ala2381Thr)
c.7111G>A (p.Ala2371Thr)
c.7036G>A (p.Ala2346Thr)
c.6934G>A (p.Ala2312Thr)
c.6565G>A (p.Ala2189Thr)
ClinVar dbSNP gnomAD v4
5g.112843008G>CCA16037468APCc.7468G>C (p.Ala2490Pro)
c.*7420G>C (n.*7420G>C)
c.7360G>C (p.Ala2454Pro)
c.7414G>C (p.Ala2472Pro)
c.231-13641G>C
c.7444G>C (p.Ala2482Pro)
c.7339G>C (p.Ala2447Pro)
c.7330G>C (p.Ala2444Pro)
c.7291G>C (p.Ala2431Pro)
c.7237G>C (p.Ala2413Pro)
c.7141G>C (p.Ala2381Pro)
c.7111G>C (p.Ala2371Pro)
c.7036G>C (p.Ala2346Pro)
c.6934G>C (p.Ala2312Pro)
c.6565G>C (p.Ala2189Pro)
dbSNP gnomAD v4
5g.112843008G=CA1573470449APCc.7468G= (p.Ala2490=)
c.*7420G= (n.*7420G=)
c.7360G= (p.Ala2454=)
c.7414G= (p.Ala2472=)
c.231-13641G=
c.7444G= (p.Ala2482=)
c.7339G= (p.Ala2447=)
c.7330G= (p.Ala2444=)
c.7291G= (p.Ala2431=)
c.7237G= (p.Ala2413=)
c.7141G= (p.Ala2381=)
c.7111G= (p.Ala2371=)
c.7036G= (p.Ala2346=)
c.6934G= (p.Ala2312=)
c.6565G= (p.Ala2189=)
5g.112843008G>TCA16037469APCc.7468G>T (p.Ala2490Ser)
c.*7420G>T (n.*7420G>T)
c.7360G>T (p.Ala2454Ser)
c.7414G>T (p.Ala2472Ser)
c.231-13641G>T
c.7444G>T (p.Ala2482Ser)
c.7339G>T (p.Ala2447Ser)
c.7330G>T (p.Ala2444Ser)
c.7291G>T (p.Ala2431Ser)
c.7237G>T (p.Ala2413Ser)
c.7141G>T (p.Ala2381Ser)
c.7111G>T (p.Ala2371Ser)
c.7036G>T (p.Ala2346Ser)
c.6934G>T (p.Ala2312Ser)
c.6565G>T (p.Ala2189Ser)
ClinVar dbSNP
5g.112843009C>ACA16037470APCc.7469C>A (p.Ala2490Asp)
c.*7421C>A (n.*7421C>A)
c.7361C>A (p.Ala2454Asp)
c.7415C>A (p.Ala2472Asp)
c.231-13640C>A
c.7445C>A (p.Ala2482Asp)
c.7340C>A (p.Ala2447Asp)
c.7331C>A (p.Ala2444Asp)
c.7292C>A (p.Ala2431Asp)
c.7238C>A (p.Ala2413Asp)
c.7142C>A (p.Ala2381Asp)
c.7112C>A (p.Ala2371Asp)
c.7037C>A (p.Ala2346Asp)
c.6935C>A (p.Ala2312Asp)
c.6566C>A (p.Ala2189Asp)
dbSNP
5g.112843009C=CA1573470459APCc.7469C= (p.Ala2490=)
c.*7421C= (n.*7421C=)
c.7361C= (p.Ala2454=)
c.7415C= (p.Ala2472=)
c.231-13640C=
c.7445C= (p.Ala2482=)
c.7340C= (p.Ala2447=)
c.7331C= (p.Ala2444=)
c.7292C= (p.Ala2431=)
c.7238C= (p.Ala2413=)
c.7142C= (p.Ala2381=)
c.7112C= (p.Ala2371=)
c.7037C= (p.Ala2346=)
c.6935C= (p.Ala2312=)
c.6566C= (p.Ala2189=)
5g.112843009C>GCA16037471APCc.7469C>G (p.Ala2490Gly)
c.*7421C>G (n.*7421C>G)
c.7361C>G (p.Ala2454Gly)
c.7415C>G (p.Ala2472Gly)
c.231-13640C>G
c.7445C>G (p.Ala2482Gly)
c.7340C>G (p.Ala2447Gly)
c.7331C>G (p.Ala2444Gly)
c.7292C>G (p.Ala2431Gly)
c.7238C>G (p.Ala2413Gly)
c.7142C>G (p.Ala2381Gly)
c.7112C>G (p.Ala2371Gly)
c.7037C>G (p.Ala2346Gly)
c.6935C>G (p.Ala2312Gly)
c.6566C>G (p.Ala2189Gly)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843009C>TCA013674APCc.7469C>T (p.Ala2490Val)
c.*7421C>T (n.*7421C>T)
c.7361C>T (p.Ala2454Val)
c.7415C>T (p.Ala2472Val)
c.231-13640C>T
c.7445C>T (p.Ala2482Val)
c.7340C>T (p.Ala2447Val)
c.7331C>T (p.Ala2444Val)
c.7292C>T (p.Ala2431Val)
c.7238C>T (p.Ala2413Val)
c.7142C>T (p.Ala2381Val)
c.7112C>T (p.Ala2371Val)
c.7037C>T (p.Ala2346Val)
c.6935C>T (p.Ala2312Val)
c.6566C>T (p.Ala2189Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843010T>ACA446210599APCc.7470T>A (p.Ala2490=)
c.*7422T>A (n.*7422T>A)
c.7362T>A (p.Ala2454=)
c.7416T>A (p.Ala2472=)
c.231-13639T>A
c.7446T>A (p.Ala2482=)
c.7341T>A (p.Ala2447=)
c.7332T>A (p.Ala2444=)
c.7293T>A (p.Ala2431=)
c.7239T>A (p.Ala2413=)
c.7143T>A (p.Ala2381=)
c.7113T>A (p.Ala2371=)
c.7038T>A (p.Ala2346=)
c.6936T>A (p.Ala2312=)
c.6567T>A (p.Ala2189=)
dbSNP
5g.112843010T>CCA446210601APCc.7470T>C (p.Ala2490=)
c.*7422T>C (n.*7422T>C)
c.7362T>C (p.Ala2454=)
c.7416T>C (p.Ala2472=)
c.231-13639T>C
c.7446T>C (p.Ala2482=)
c.7341T>C (p.Ala2447=)
c.7332T>C (p.Ala2444=)
c.7293T>C (p.Ala2431=)
c.7239T>C (p.Ala2413=)
c.7143T>C (p.Ala2381=)
c.7113T>C (p.Ala2371=)
c.7038T>C (p.Ala2346=)
c.6936T>C (p.Ala2312=)
c.6567T>C (p.Ala2189=)
dbSNP
5g.112843010T>GCA446210603APCc.7470T>G (p.Ala2490=)
c.*7422T>G (n.*7422T>G)
c.7362T>G (p.Ala2454=)
c.7416T>G (p.Ala2472=)
c.231-13639T>G
c.7446T>G (p.Ala2482=)
c.7341T>G (p.Ala2447=)
c.7332T>G (p.Ala2444=)
c.7293T>G (p.Ala2431=)
c.7239T>G (p.Ala2413=)
c.7143T>G (p.Ala2381=)
c.7113T>G (p.Ala2371=)
c.7038T>G (p.Ala2346=)
c.6936T>G (p.Ala2312=)
c.6567T>G (p.Ala2189=)
ClinVar dbSNP
5g.112843011T>ACA16037472APCc.7471T>A (p.Ser2491Thr)
c.*7423T>A (n.*7423T>A)
c.7363T>A (p.Ser2455Thr)
c.7417T>A (p.Ser2473Thr)
c.231-13638T>A
c.7447T>A (p.Ser2483Thr)
c.7342T>A (p.Ser2448Thr)
c.7333T>A (p.Ser2445Thr)
c.7294T>A (p.Ser2432Thr)
c.7240T>A (p.Ser2414Thr)
c.7144T>A (p.Ser2382Thr)
c.7114T>A (p.Ser2372Thr)
c.7039T>A (p.Ser2347Thr)
c.6937T>A (p.Ser2313Thr)
c.6568T>A (p.Ser2190Thr)
dbSNP
5g.112843011T>CCA16037473APCc.7471T>C (p.Ser2491Pro)
c.*7423T>C (n.*7423T>C)
c.7363T>C (p.Ser2455Pro)
c.7417T>C (p.Ser2473Pro)
c.231-13638T>C
c.7447T>C (p.Ser2483Pro)
c.7342T>C (p.Ser2448Pro)
c.7333T>C (p.Ser2445Pro)
c.7294T>C (p.Ser2432Pro)
c.7240T>C (p.Ser2414Pro)
c.7144T>C (p.Ser2382Pro)
c.7114T>C (p.Ser2372Pro)
c.7039T>C (p.Ser2347Pro)
c.6937T>C (p.Ser2313Pro)
c.6568T>C (p.Ser2190Pro)
dbSNP
5g.112843011T>GCA16037474APCc.7471T>G (p.Ser2491Ala)
c.*7423T>G (n.*7423T>G)
c.7363T>G (p.Ser2455Ala)
c.7417T>G (p.Ser2473Ala)
c.231-13638T>G
c.7447T>G (p.Ser2483Ala)
c.7342T>G (p.Ser2448Ala)
c.7333T>G (p.Ser2445Ala)
c.7294T>G (p.Ser2432Ala)
c.7240T>G (p.Ser2414Ala)
c.7144T>G (p.Ser2382Ala)
c.7114T>G (p.Ser2372Ala)
c.7039T>G (p.Ser2347Ala)
c.6937T>G (p.Ser2313Ala)
c.6568T>G (p.Ser2190Ala)
5g.112843012C>ACA16037475APCc.7472C>A (p.Ser2491Tyr)
c.*7424C>A (n.*7424C>A)
c.7364C>A (p.Ser2455Tyr)
c.7418C>A (p.Ser2473Tyr)
c.231-13637C>A
c.7448C>A (p.Ser2483Tyr)
c.7343C>A (p.Ser2448Tyr)
c.7334C>A (p.Ser2445Tyr)
c.7295C>A (p.Ser2432Tyr)
c.7241C>A (p.Ser2414Tyr)
c.7145C>A (p.Ser2382Tyr)
c.7115C>A (p.Ser2372Tyr)
c.7040C>A (p.Ser2347Tyr)
c.6938C>A (p.Ser2313Tyr)
c.6569C>A (p.Ser2190Tyr)
5g.112843012C=CA1573470538APCc.7472C= (p.Ser2491=)
c.*7424C= (n.*7424C=)
c.7364C= (p.Ser2455=)
c.7418C= (p.Ser2473=)
c.231-13637C=
c.7448C= (p.Ser2483=)
c.7343C= (p.Ser2448=)
c.7334C= (p.Ser2445=)
c.7295C= (p.Ser2432=)
c.7241C= (p.Ser2414=)
c.7145C= (p.Ser2382=)
c.7115C= (p.Ser2372=)
c.7040C= (p.Ser2347=)
c.6938C= (p.Ser2313=)
c.6569C= (p.Ser2190=)
5g.112843012C>GCA16037476APCc.7472C>G (p.Ser2491Cys)
c.*7424C>G (n.*7424C>G)
c.7364C>G (p.Ser2455Cys)
c.7418C>G (p.Ser2473Cys)
c.231-13637C>G
c.7448C>G (p.Ser2483Cys)
c.7343C>G (p.Ser2448Cys)
c.7334C>G (p.Ser2445Cys)
c.7295C>G (p.Ser2432Cys)
c.7241C>G (p.Ser2414Cys)
c.7145C>G (p.Ser2382Cys)
c.7115C>G (p.Ser2372Cys)
c.7040C>G (p.Ser2347Cys)
c.6938C>G (p.Ser2313Cys)
c.6569C>G (p.Ser2190Cys)
ClinVar dbSNP gnomAD v4
5g.112843012C>TCA16037477APCc.7472C>T (p.Ser2491Phe)
c.*7424C>T (n.*7424C>T)
c.7364C>T (p.Ser2455Phe)
c.7418C>T (p.Ser2473Phe)
c.231-13637C>T
c.7448C>T (p.Ser2483Phe)
c.7343C>T (p.Ser2448Phe)
c.7334C>T (p.Ser2445Phe)
c.7295C>T (p.Ser2432Phe)
c.7241C>T (p.Ser2414Phe)
c.7145C>T (p.Ser2382Phe)
c.7115C>T (p.Ser2372Phe)
c.7040C>T (p.Ser2347Phe)
c.6938C>T (p.Ser2313Phe)
c.6569C>T (p.Ser2190Phe)
ClinVar dbSNP
5g.112843013T>ACA125167819APCc.7473T>A (p.Ser2491=)
c.*7425T>A (n.*7425T>A)
c.7365T>A (p.Ser2455=)
c.7419T>A (p.Ser2473=)
c.231-13636T>A
c.7449T>A (p.Ser2483=)
c.7344T>A (p.Ser2448=)
c.7335T>A (p.Ser2445=)
c.7296T>A (p.Ser2432=)
c.7242T>A (p.Ser2414=)
c.7146T>A (p.Ser2382=)
c.7116T>A (p.Ser2372=)
c.7041T>A (p.Ser2347=)
c.6939T>A (p.Ser2313=)
c.6570T>A (p.Ser2190=)
ClinVar dbSNP gnomAD v4
5g.112843013T>CCA446210608APCc.7473T>C (p.Ser2491=)
c.*7425T>C (n.*7425T>C)
c.7365T>C (p.Ser2455=)
c.7419T>C (p.Ser2473=)
c.231-13636T>C
c.7449T>C (p.Ser2483=)
c.7344T>C (p.Ser2448=)
c.7335T>C (p.Ser2445=)
c.7296T>C (p.Ser2432=)
c.7242T>C (p.Ser2414=)
c.7146T>C (p.Ser2382=)
c.7116T>C (p.Ser2372=)
c.7041T>C (p.Ser2347=)
c.6939T>C (p.Ser2313=)
c.6570T>C (p.Ser2190=)
gnomAD v4
5g.112843013T>GCA446210607APCc.7473T>G (p.Ser2491=)
c.*7425T>G (n.*7425T>G)
c.7365T>G (p.Ser2455=)
c.7419T>G (p.Ser2473=)
c.231-13636T>G
c.7449T>G (p.Ser2483=)
c.7344T>G (p.Ser2448=)
c.7335T>G (p.Ser2445=)
c.7296T>G (p.Ser2432=)
c.7242T>G (p.Ser2414=)
c.7146T>G (p.Ser2382=)
c.7116T>G (p.Ser2372=)
c.7041T>G (p.Ser2347=)
c.6939T>G (p.Ser2313=)
c.6570T>G (p.Ser2190=)
5g.112843013T=CA1573470549APCc.7473T= (p.Ser2491=)
c.*7425T= (n.*7425T=)
c.7365T= (p.Ser2455=)
c.7419T= (p.Ser2473=)
c.231-13636T=
c.7449T= (p.Ser2483=)
c.7344T= (p.Ser2448=)
c.7335T= (p.Ser2445=)
c.7296T= (p.Ser2432=)
c.7242T= (p.Ser2414=)
c.7146T= (p.Ser2382=)
c.7116T= (p.Ser2372=)
c.7041T= (p.Ser2347=)
c.6939T= (p.Ser2313=)
c.6570T= (p.Ser2190=)
5g.112843014C>ACA16037478APCc.7474C>A (p.Pro2492Thr)
c.*7426C>A (n.*7426C>A)
c.7366C>A (p.Pro2456Thr)
c.7420C>A (p.Pro2474Thr)
c.231-13635C>A
c.7450C>A (p.Pro2484Thr)
c.7345C>A (p.Pro2449Thr)
c.7336C>A (p.Pro2446Thr)
c.7297C>A (p.Pro2433Thr)
c.7243C>A (p.Pro2415Thr)
c.7147C>A (p.Pro2383Thr)
c.7117C>A (p.Pro2373Thr)
c.7042C>A (p.Pro2348Thr)
c.6940C>A (p.Pro2314Thr)
c.6571C>A (p.Pro2191Thr)
dbSNP
5g.112843014C>GCA16037479APCc.7474C>G (p.Pro2492Ala)
c.*7426C>G (n.*7426C>G)
c.7366C>G (p.Pro2456Ala)
c.7420C>G (p.Pro2474Ala)
c.231-13635C>G
c.7450C>G (p.Pro2484Ala)
c.7345C>G (p.Pro2449Ala)
c.7336C>G (p.Pro2446Ala)
c.7297C>G (p.Pro2433Ala)
c.7243C>G (p.Pro2415Ala)
c.7147C>G (p.Pro2383Ala)
c.7117C>G (p.Pro2373Ala)
c.7042C>G (p.Pro2348Ala)
c.6940C>G (p.Pro2314Ala)
c.6571C>G (p.Pro2191Ala)
dbSNP
5g.112843014C>TCA16037480APCc.7474C>T (p.Pro2492Ser)
c.*7426C>T (n.*7426C>T)
c.7366C>T (p.Pro2456Ser)
c.7420C>T (p.Pro2474Ser)
c.231-13635C>T
c.7450C>T (p.Pro2484Ser)
c.7345C>T (p.Pro2449Ser)
c.7336C>T (p.Pro2446Ser)
c.7297C>T (p.Pro2433Ser)
c.7243C>T (p.Pro2415Ser)
c.7147C>T (p.Pro2383Ser)
c.7117C>T (p.Pro2373Ser)
c.7042C>T (p.Pro2348Ser)
c.6940C>T (p.Pro2314Ser)
c.6571C>T (p.Pro2191Ser)
dbSNP
5g.112843015C>ACA16037481APCc.7475C>A (p.Pro2492His)
c.*7427C>A (n.*7427C>A)
c.7367C>A (p.Pro2456His)
c.7421C>A (p.Pro2474His)
c.231-13634C>A
c.7451C>A (p.Pro2484His)
c.7346C>A (p.Pro2449His)
c.7337C>A (p.Pro2446His)
c.7298C>A (p.Pro2433His)
c.7244C>A (p.Pro2415His)
c.7148C>A (p.Pro2383His)
c.7118C>A (p.Pro2373His)
c.7043C>A (p.Pro2348His)
c.6941C>A (p.Pro2314His)
c.6572C>A (p.Pro2191His)
dbSNP
5g.112843015C>GCA16037482APCc.7475C>G (p.Pro2492Arg)
c.*7427C>G (n.*7427C>G)
c.7367C>G (p.Pro2456Arg)
c.7421C>G (p.Pro2474Arg)
c.231-13634C>G
c.7451C>G (p.Pro2484Arg)
c.7346C>G (p.Pro2449Arg)
c.7337C>G (p.Pro2446Arg)
c.7298C>G (p.Pro2433Arg)
c.7244C>G (p.Pro2415Arg)
c.7148C>G (p.Pro2383Arg)
c.7118C>G (p.Pro2373Arg)
c.7043C>G (p.Pro2348Arg)
c.6941C>G (p.Pro2314Arg)
c.6572C>G (p.Pro2191Arg)
dbSNP
5g.112843015C>TCA16037483APCc.7475C>T (p.Pro2492Leu)
c.*7427C>T (n.*7427C>T)
c.7367C>T (p.Pro2456Leu)
c.7421C>T (p.Pro2474Leu)
c.231-13634C>T
c.7451C>T (p.Pro2484Leu)
c.7346C>T (p.Pro2449Leu)
c.7337C>T (p.Pro2446Leu)
c.7298C>T (p.Pro2433Leu)
c.7244C>T (p.Pro2415Leu)
c.7148C>T (p.Pro2383Leu)
c.7118C>T (p.Pro2373Leu)
c.7043C>T (p.Pro2348Leu)
c.6941C>T (p.Pro2314Leu)
c.6572C>T (p.Pro2191Leu)
ClinVar dbSNP
5g.112843016C>ACA446210617APCc.7476C>A (p.Pro2492=)
c.*7428C>A (n.*7428C>A)
c.7368C>A (p.Pro2456=)
c.7422C>A (p.Pro2474=)
c.231-13633C>A
c.7452C>A (p.Pro2484=)
c.7347C>A (p.Pro2449=)
c.7338C>A (p.Pro2446=)
c.7299C>A (p.Pro2433=)
c.7245C>A (p.Pro2415=)
c.7149C>A (p.Pro2383=)
c.7119C>A (p.Pro2373=)
c.7044C>A (p.Pro2348=)
c.6942C>A (p.Pro2314=)
c.6573C>A (p.Pro2191=)
dbSNP
5g.112843016C>GCA446210616APCc.7476C>G (p.Pro2492=)
c.*7428C>G (n.*7428C>G)
c.7368C>G (p.Pro2456=)
c.7422C>G (p.Pro2474=)
c.231-13633C>G
c.7452C>G (p.Pro2484=)
c.7347C>G (p.Pro2449=)
c.7338C>G (p.Pro2446=)
c.7299C>G (p.Pro2433=)
c.7245C>G (p.Pro2415=)
c.7149C>G (p.Pro2383=)
c.7119C>G (p.Pro2373=)
c.7044C>G (p.Pro2348=)
c.6942C>G (p.Pro2314=)
c.6573C>G (p.Pro2191=)
dbSNP
5g.112843016C>TCA446210615APCc.7476C>T (p.Pro2492=)
c.*7428C>T (n.*7428C>T)
c.7368C>T (p.Pro2456=)
c.7422C>T (p.Pro2474=)
c.231-13633C>T
c.7452C>T (p.Pro2484=)
c.7347C>T (p.Pro2449=)
c.7338C>T (p.Pro2446=)
c.7299C>T (p.Pro2433=)
c.7245C>T (p.Pro2415=)
c.7149C>T (p.Pro2383=)
c.7119C>T (p.Pro2373=)
c.7044C>T (p.Pro2348=)
c.6942C>T (p.Pro2314=)
c.6573C>T (p.Pro2191=)
gnomAD v4
5g.112843017A=CA1573470564APCc.7477A= (p.Thr2493=)
c.*7429A= (n.*7429A=)
c.7369A= (p.Thr2457=)
c.7423A= (p.Thr2475=)
c.231-13632A=
c.7453A= (p.Thr2485=)
c.7348A= (p.Thr2450=)
c.7339A= (p.Thr2447=)
c.7300A= (p.Thr2434=)
c.7246A= (p.Thr2416=)
c.7150A= (p.Thr2384=)
c.7120A= (p.Thr2374=)
c.7045A= (p.Thr2349=)
c.6943A= (p.Thr2315=)
c.6574A= (p.Thr2192=)
5g.112843017A>CCA16037484APCc.7477A>C (p.Thr2493Pro)
c.*7429A>C (n.*7429A>C)
c.7369A>C (p.Thr2457Pro)
c.7423A>C (p.Thr2475Pro)
c.231-13632A>C
c.7453A>C (p.Thr2485Pro)
c.7348A>C (p.Thr2450Pro)
c.7339A>C (p.Thr2447Pro)
c.7300A>C (p.Thr2434Pro)
c.7246A>C (p.Thr2416Pro)
c.7150A>C (p.Thr2384Pro)
c.7120A>C (p.Thr2374Pro)
c.7045A>C (p.Thr2349Pro)
c.6943A>C (p.Thr2315Pro)
c.6574A>C (p.Thr2192Pro)
dbSNP
5g.112843017A>GCA16037485APCc.7477A>G (p.Thr2493Ala)
c.*7429A>G (n.*7429A>G)
c.7369A>G (p.Thr2457Ala)
c.7423A>G (p.Thr2475Ala)
c.231-13632A>G
c.7453A>G (p.Thr2485Ala)
c.7348A>G (p.Thr2450Ala)
c.7339A>G (p.Thr2447Ala)
c.7300A>G (p.Thr2434Ala)
c.7246A>G (p.Thr2416Ala)
c.7150A>G (p.Thr2384Ala)
c.7120A>G (p.Thr2374Ala)
c.7045A>G (p.Thr2349Ala)
c.6943A>G (p.Thr2315Ala)
c.6574A>G (p.Thr2192Ala)
dbSNP gnomAD v2 gnomAD v4
5g.112843017A>TCA16037486APCc.7477A>T (p.Thr2493Ser)
c.*7429A>T (n.*7429A>T)
c.7369A>T (p.Thr2457Ser)
c.7423A>T (p.Thr2475Ser)
c.231-13632A>T
c.7453A>T (p.Thr2485Ser)
c.7348A>T (p.Thr2450Ser)
c.7339A>T (p.Thr2447Ser)
c.7300A>T (p.Thr2434Ser)
c.7246A>T (p.Thr2416Ser)
c.7150A>T (p.Thr2384Ser)
c.7120A>T (p.Thr2374Ser)
c.7045A>T (p.Thr2349Ser)
c.6943A>T (p.Thr2315Ser)
c.6574A>T (p.Thr2192Ser)
dbSNP gnomAD v4
5g.112843018C>ACA16037487APCc.7478C>A (p.Thr2493Asn)
c.*7430C>A (n.*7430C>A)
c.7370C>A (p.Thr2457Asn)
c.7424C>A (p.Thr2475Asn)
c.231-13631C>A
c.7454C>A (p.Thr2485Asn)
c.7349C>A (p.Thr2450Asn)
c.7340C>A (p.Thr2447Asn)
c.7301C>A (p.Thr2434Asn)
c.7247C>A (p.Thr2416Asn)
c.7151C>A (p.Thr2384Asn)
c.7121C>A (p.Thr2374Asn)
c.7046C>A (p.Thr2349Asn)
c.6944C>A (p.Thr2315Asn)
c.6575C>A (p.Thr2192Asn)
dbSNP
5g.112843018C=CA1573470588APCc.7478C= (p.Thr2493=)
c.*7430C= (n.*7430C=)
c.7370C= (p.Thr2457=)
c.7424C= (p.Thr2475=)
c.231-13631C=
c.7454C= (p.Thr2485=)
c.7349C= (p.Thr2450=)
c.7340C= (p.Thr2447=)
c.7301C= (p.Thr2434=)
c.7247C= (p.Thr2416=)
c.7151C= (p.Thr2384=)
c.7121C= (p.Thr2374=)
c.7046C= (p.Thr2349=)
c.6944C= (p.Thr2315=)
c.6575C= (p.Thr2192=)
5g.112843018C>GCA16037488APCc.7478C>G (p.Thr2493Ser)
c.*7430C>G (n.*7430C>G)
c.7370C>G (p.Thr2457Ser)
c.7424C>G (p.Thr2475Ser)
c.231-13631C>G
c.7454C>G (p.Thr2485Ser)
c.7349C>G (p.Thr2450Ser)
c.7340C>G (p.Thr2447Ser)
c.7301C>G (p.Thr2434Ser)
c.7247C>G (p.Thr2416Ser)
c.7151C>G (p.Thr2384Ser)
c.7121C>G (p.Thr2374Ser)
c.7046C>G (p.Thr2349Ser)
c.6944C>G (p.Thr2315Ser)
c.6575C>G (p.Thr2192Ser)
ClinVar dbSNP
5g.112843018C>TCA16037489APCc.7478C>T (p.Thr2493Ile)
c.*7430C>T (n.*7430C>T)
c.7370C>T (p.Thr2457Ile)
c.7424C>T (p.Thr2475Ile)
c.231-13631C>T
c.7454C>T (p.Thr2485Ile)
c.7349C>T (p.Thr2450Ile)
c.7340C>T (p.Thr2447Ile)
c.7301C>T (p.Thr2434Ile)
c.7247C>T (p.Thr2416Ile)
c.7151C>T (p.Thr2384Ile)
c.7121C>T (p.Thr2374Ile)
c.7046C>T (p.Thr2349Ile)
c.6944C>T (p.Thr2315Ile)
c.6575C>T (p.Thr2192Ile)
ClinVar dbSNP
5g.112843019T>ACA446210625APCc.7479T>A (p.Thr2493=)
c.*7431T>A (n.*7431T>A)
c.7371T>A (p.Thr2457=)
c.7425T>A (p.Thr2475=)
c.231-13630T>A
c.7455T>A (p.Thr2485=)
c.7350T>A (p.Thr2450=)
c.7341T>A (p.Thr2447=)
c.7302T>A (p.Thr2434=)
c.7248T>A (p.Thr2416=)
c.7152T>A (p.Thr2384=)
c.7122T>A (p.Thr2374=)
c.7047T>A (p.Thr2349=)
c.6945T>A (p.Thr2315=)
c.6576T>A (p.Thr2192=)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843019T>CCA446210633APCc.7479T>C (p.Thr2493=)
c.*7431T>C (n.*7431T>C)
c.7371T>C (p.Thr2457=)
c.7425T>C (p.Thr2475=)
c.231-13630T>C
c.7455T>C (p.Thr2485=)
c.7350T>C (p.Thr2450=)
c.7341T>C (p.Thr2447=)
c.7302T>C (p.Thr2434=)
c.7248T>C (p.Thr2416=)
c.7152T>C (p.Thr2384=)
c.7122T>C (p.Thr2374=)
c.7047T>C (p.Thr2349=)
c.6945T>C (p.Thr2315=)
c.6576T>C (p.Thr2192=)
ClinVar dbSNP gnomAD v4
5g.112843019T>GCA446210627APCc.7479T>G (p.Thr2493=)
c.*7431T>G (n.*7431T>G)
c.7371T>G (p.Thr2457=)
c.7425T>G (p.Thr2475=)
c.231-13630T>G
c.7455T>G (p.Thr2485=)
c.7350T>G (p.Thr2450=)
c.7341T>G (p.Thr2447=)
c.7302T>G (p.Thr2434=)
c.7248T>G (p.Thr2416=)
c.7152T>G (p.Thr2384=)
c.7122T>G (p.Thr2374=)
c.7047T>G (p.Thr2349=)
c.6945T>G (p.Thr2315=)
c.6576T>G (p.Thr2192=)
5g.112843019T=CA1573470605APCc.7479T= (p.Thr2493=)
c.*7431T= (n.*7431T=)
c.7371T= (p.Thr2457=)
c.7425T= (p.Thr2475=)
c.231-13630T=
c.7455T= (p.Thr2485=)
c.7350T= (p.Thr2450=)
c.7341T= (p.Thr2447=)
c.7302T= (p.Thr2434=)
c.7248T= (p.Thr2416=)
c.7152T= (p.Thr2384=)
c.7122T= (p.Thr2374=)
c.7047T= (p.Thr2349=)
c.6945T= (p.Thr2315=)
c.6576T= (p.Thr2192=)
5g.112843020A=CA1573470625APCc.7480A= (p.Arg2494=)
c.*7432A= (n.*7432A=)
c.7372A= (p.Arg2458=)
c.7426A= (p.Arg2476=)
c.231-13629A=
c.7456A= (p.Arg2486=)
c.7351A= (p.Arg2451=)
c.7342A= (p.Arg2448=)
c.7303A= (p.Arg2435=)
c.7249A= (p.Arg2417=)
c.7153A= (p.Arg2385=)
c.7123A= (p.Arg2375=)
c.7048A= (p.Arg2350=)
c.6946A= (p.Arg2316=)
c.6577A= (p.Arg2193=)
5g.112843020A>CCA446210636APCc.7480A>C (p.Arg2494=)
c.*7432A>C (n.*7432A>C)
c.7372A>C (p.Arg2458=)
c.7426A>C (p.Arg2476=)
c.231-13629A>C
c.7456A>C (p.Arg2486=)
c.7351A>C (p.Arg2451=)
c.7342A>C (p.Arg2448=)
c.7303A>C (p.Arg2435=)
c.7249A>C (p.Arg2417=)
c.7153A>C (p.Arg2385=)
c.7123A>C (p.Arg2375=)
c.7048A>C (p.Arg2350=)
c.6946A>C (p.Arg2316=)
c.6577A>C (p.Arg2193=)
5g.112843020A>GCA16037490APCc.7480A>G (p.Arg2494Gly)
c.*7432A>G (n.*7432A>G)
c.7372A>G (p.Arg2458Gly)
c.7426A>G (p.Arg2476Gly)
c.231-13629A>G
c.7456A>G (p.Arg2486Gly)
c.7351A>G (p.Arg2451Gly)
c.7342A>G (p.Arg2448Gly)
c.7303A>G (p.Arg2435Gly)
c.7249A>G (p.Arg2417Gly)
c.7153A>G (p.Arg2385Gly)
c.7123A>G (p.Arg2375Gly)
c.7048A>G (p.Arg2350Gly)
c.6946A>G (p.Arg2316Gly)
c.6577A>G (p.Arg2193Gly)
ClinVar dbSNP
5g.112843020A>TCA16037491APCc.7480A>T (p.Arg2494Trp)
c.*7432A>T (n.*7432A>T)
c.7372A>T (p.Arg2458Trp)
c.7426A>T (p.Arg2476Trp)
c.231-13629A>T
c.7456A>T (p.Arg2486Trp)
c.7351A>T (p.Arg2451Trp)
c.7342A>T (p.Arg2448Trp)
c.7303A>T (p.Arg2435Trp)
c.7249A>T (p.Arg2417Trp)
c.7153A>T (p.Arg2385Trp)
c.7123A>T (p.Arg2375Trp)
c.7048A>T (p.Arg2350Trp)
c.6946A>T (p.Arg2316Trp)
c.6577A>T (p.Arg2193Trp)
dbSNP
5g.112843021G>ACA16037492APCc.7481G>A (p.Arg2494Lys)
c.*7433G>A (n.*7433G>A)
c.7373G>A (p.Arg2458Lys)
c.7427G>A (p.Arg2476Lys)
c.231-13628G>A
c.7457G>A (p.Arg2486Lys)
c.7352G>A (p.Arg2451Lys)
c.7343G>A (p.Arg2448Lys)
c.7304G>A (p.Arg2435Lys)
c.7250G>A (p.Arg2417Lys)
c.7154G>A (p.Arg2385Lys)
c.7124G>A (p.Arg2375Lys)
c.7049G>A (p.Arg2350Lys)
c.6947G>A (p.Arg2316Lys)
c.6578G>A (p.Arg2193Lys)
ClinVar dbSNP
5g.112843021G>CCA16037493APCc.7481G>C (p.Arg2494Thr)
c.*7433G>C (n.*7433G>C)
c.7373G>C (p.Arg2458Thr)
c.7427G>C (p.Arg2476Thr)
c.231-13628G>C
c.7457G>C (p.Arg2486Thr)
c.7352G>C (p.Arg2451Thr)
c.7343G>C (p.Arg2448Thr)
c.7304G>C (p.Arg2435Thr)
c.7250G>C (p.Arg2417Thr)
c.7154G>C (p.Arg2385Thr)
c.7124G>C (p.Arg2375Thr)
c.7049G>C (p.Arg2350Thr)
c.6947G>C (p.Arg2316Thr)
c.6578G>C (p.Arg2193Thr)
ClinVar dbSNP
5g.112843021G=CA1573470637APCc.7481G= (p.Arg2494=)
c.*7433G= (n.*7433G=)
c.7373G= (p.Arg2458=)
c.7427G= (p.Arg2476=)
c.231-13628G=
c.7457G= (p.Arg2486=)
c.7352G= (p.Arg2451=)
c.7343G= (p.Arg2448=)
c.7304G= (p.Arg2435=)
c.7250G= (p.Arg2417=)
c.7154G= (p.Arg2385=)
c.7124G= (p.Arg2375=)
c.7049G= (p.Arg2350=)
c.6947G= (p.Arg2316=)
c.6578G= (p.Arg2193=)
5g.112843021G>TCA16037494APCc.7481G>T (p.Arg2494Met)
c.*7433G>T (n.*7433G>T)
c.7373G>T (p.Arg2458Met)
c.7427G>T (p.Arg2476Met)
c.231-13628G>T
c.7457G>T (p.Arg2486Met)
c.7352G>T (p.Arg2451Met)
c.7343G>T (p.Arg2448Met)
c.7304G>T (p.Arg2435Met)
c.7250G>T (p.Arg2417Met)
c.7154G>T (p.Arg2385Met)
c.7124G>T (p.Arg2375Met)
c.7049G>T (p.Arg2350Met)
c.6947G>T (p.Arg2316Met)
c.6578G>T (p.Arg2193Met)
dbSNP
5g.112843022delCA2582341625APCc.7482del (p.Arg2494SerfsTer9)
c.*7434del (n.*7434del)
c.7374del (p.Arg2458SerfsTer9)
c.7428del (p.Arg2476SerfsTer9)
c.231-13627del
c.7458del (p.Arg2486SerfsTer9)
c.7353del (p.Arg2451SerfsTer9)
c.7344del (p.Arg2448SerfsTer9)
c.7305del (p.Arg2435SerfsTer9)
c.7251del (p.Arg2417SerfsTer9)
c.7155del (p.Arg2385SerfsTer9)
c.7125del (p.Arg2375SerfsTer9)
c.7050del (p.Arg2350SerfsTer9)
c.6948del (p.Arg2316SerfsTer9)
c.6579del (p.Arg2193SerfsTer9)
ClinVar
5g.112843022G>ACA446210638APCc.7482G>A (p.Arg2494=)
c.*7434G>A (n.*7434G>A)
c.7374G>A (p.Arg2458=)
c.7428G>A (p.Arg2476=)
c.231-13627G>A
c.7458G>A (p.Arg2486=)
c.7353G>A (p.Arg2451=)
c.7344G>A (p.Arg2448=)
c.7305G>A (p.Arg2435=)
c.7251G>A (p.Arg2417=)
c.7155G>A (p.Arg2385=)
c.7125G>A (p.Arg2375=)
c.7050G>A (p.Arg2350=)
c.6948G>A (p.Arg2316=)
c.6579G>A (p.Arg2193=)
ClinVar dbSNP
5g.112843022G>CCA16037495APCc.7482G>C (p.Arg2494Ser)
c.*7434G>C (n.*7434G>C)
c.7374G>C (p.Arg2458Ser)
c.7428G>C (p.Arg2476Ser)
c.231-13627G>C
c.7458G>C (p.Arg2486Ser)
c.7353G>C (p.Arg2451Ser)
c.7344G>C (p.Arg2448Ser)
c.7305G>C (p.Arg2435Ser)
c.7251G>C (p.Arg2417Ser)
c.7155G>C (p.Arg2385Ser)
c.7125G>C (p.Arg2375Ser)
c.7050G>C (p.Arg2350Ser)
c.6948G>C (p.Arg2316Ser)
c.6579G>C (p.Arg2193Ser)
dbSNP
5g.112843022G>TCA16037496APCc.7482G>T (p.Arg2494Ser)
c.*7434G>T (n.*7434G>T)
c.7374G>T (p.Arg2458Ser)
c.7428G>T (p.Arg2476Ser)
c.231-13627G>T
c.7458G>T (p.Arg2486Ser)
c.7353G>T (p.Arg2451Ser)
c.7344G>T (p.Arg2448Ser)
c.7305G>T (p.Arg2435Ser)
c.7251G>T (p.Arg2417Ser)
c.7155G>T (p.Arg2385Ser)
c.7125G>T (p.Arg2375Ser)
c.7050G>T (p.Arg2350Ser)
c.6948G>T (p.Arg2316Ser)
c.6579G>T (p.Arg2193Ser)
dbSNP
5g.112843023T>ACA16037497APCc.7483T>A (p.Ser2495Thr)
c.*7435T>A (n.*7435T>A)
c.7375T>A (p.Ser2459Thr)
c.7429T>A (p.Ser2477Thr)
c.231-13626T>A
c.7459T>A (p.Ser2487Thr)
c.7354T>A (p.Ser2452Thr)
c.7345T>A (p.Ser2449Thr)
c.7306T>A (p.Ser2436Thr)
c.7252T>A (p.Ser2418Thr)
c.7156T>A (p.Ser2386Thr)
c.7126T>A (p.Ser2376Thr)
c.7051T>A (p.Ser2351Thr)
c.6949T>A (p.Ser2317Thr)
c.6580T>A (p.Ser2194Thr)
ClinVar dbSNP
5g.112843023T>CCA16037498APCc.7483T>C (p.Ser2495Pro)
c.*7435T>C (n.*7435T>C)
c.7375T>C (p.Ser2459Pro)
c.7429T>C (p.Ser2477Pro)
c.231-13626T>C
c.7459T>C (p.Ser2487Pro)
c.7354T>C (p.Ser2452Pro)
c.7345T>C (p.Ser2449Pro)
c.7306T>C (p.Ser2436Pro)
c.7252T>C (p.Ser2418Pro)
c.7156T>C (p.Ser2386Pro)
c.7126T>C (p.Ser2376Pro)
c.7051T>C (p.Ser2351Pro)
c.6949T>C (p.Ser2317Pro)
c.6580T>C (p.Ser2194Pro)
5g.112843023T>GCA16037499APCc.7483T>G (p.Ser2495Ala)
c.*7435T>G (n.*7435T>G)
c.7375T>G (p.Ser2459Ala)
c.7429T>G (p.Ser2477Ala)
c.231-13626T>G
c.7459T>G (p.Ser2487Ala)
c.7354T>G (p.Ser2452Ala)
c.7345T>G (p.Ser2449Ala)
c.7306T>G (p.Ser2436Ala)
c.7252T>G (p.Ser2418Ala)
c.7156T>G (p.Ser2386Ala)
c.7126T>G (p.Ser2376Ala)
c.7051T>G (p.Ser2351Ala)
c.6949T>G (p.Ser2317Ala)
c.6580T>G (p.Ser2194Ala)
5g.112843023T=CA1573470663APCc.7483T= (p.Ser2495=)
c.*7435T= (n.*7435T=)
c.7375T= (p.Ser2459=)
c.7429T= (p.Ser2477=)
c.231-13626T=
c.7459T= (p.Ser2487=)
c.7354T= (p.Ser2452=)
c.7345T= (p.Ser2449=)
c.7306T= (p.Ser2436=)
c.7252T= (p.Ser2418=)
c.7156T= (p.Ser2386=)
c.7126T= (p.Ser2376=)
c.7051T= (p.Ser2351=)
c.6949T= (p.Ser2317=)
c.6580T= (p.Ser2194=)
5g.112843023_112843024delinsTCCA1573470662APCc.7483_7484delinsTC (p.Ser2495=)
c.*7435_*7436delinsTC (n.*7435_*7436delinsTC)
c.7375_7376delinsTC (p.Ser2459=)
c.7429_7430delinsTC (p.Ser2477=)
c.231-13626_231-13625delinsTC
c.7459_7460delinsTC (p.Ser2487=)
c.7354_7355delinsTC (p.Ser2452=)
c.7345_7346delinsTC (p.Ser2449=)
c.7306_7307delinsTC (p.Ser2436=)
c.7252_7253delinsTC (p.Ser2418=)
c.7156_7157delinsTC (p.Ser2386=)
c.7126_7127delinsTC (p.Ser2376=)
c.7051_7052delinsTC (p.Ser2351=)
c.6949_6950delinsTC (p.Ser2317=)
c.6580_6581delinsTC (p.Ser2194=)
5g.112843024C>ACA16037500APCc.7484C>A (p.Ser2495Tyr)
c.*7436C>A (n.*7436C>A)
c.7376C>A (p.Ser2459Tyr)
c.7430C>A (p.Ser2477Tyr)
c.231-13625C>A
c.7460C>A (p.Ser2487Tyr)
c.7355C>A (p.Ser2452Tyr)
c.7346C>A (p.Ser2449Tyr)
c.7307C>A (p.Ser2436Tyr)
c.7253C>A (p.Ser2418Tyr)
c.7157C>A (p.Ser2386Tyr)
c.7127C>A (p.Ser2376Tyr)
c.7052C>A (p.Ser2351Tyr)
c.6950C>A (p.Ser2317Tyr)
c.6581C>A (p.Ser2194Tyr)
dbSNP
5g.112843024C>GCA16037501APCc.7484C>G (p.Ser2495Cys)
c.*7436C>G (n.*7436C>G)
c.7376C>G (p.Ser2459Cys)
c.7430C>G (p.Ser2477Cys)
c.231-13625C>G
c.7460C>G (p.Ser2487Cys)
c.7355C>G (p.Ser2452Cys)
c.7346C>G (p.Ser2449Cys)
c.7307C>G (p.Ser2436Cys)
c.7253C>G (p.Ser2418Cys)
c.7157C>G (p.Ser2386Cys)
c.7127C>G (p.Ser2376Cys)
c.7052C>G (p.Ser2351Cys)
c.6950C>G (p.Ser2317Cys)
c.6581C>G (p.Ser2194Cys)
dbSNP
5g.112843024C>TCA16037502APCc.7484C>T (p.Ser2495Phe)
c.*7436C>T (n.*7436C>T)
c.7376C>T (p.Ser2459Phe)
c.7430C>T (p.Ser2477Phe)
c.231-13625C>T
c.7460C>T (p.Ser2487Phe)
c.7355C>T (p.Ser2452Phe)
c.7346C>T (p.Ser2449Phe)
c.7307C>T (p.Ser2436Phe)
c.7253C>T (p.Ser2418Phe)
c.7157C>T (p.Ser2386Phe)
c.7127C>T (p.Ser2376Phe)
c.7052C>T (p.Ser2351Phe)
c.6950C>T (p.Ser2317Phe)
c.6581C>T (p.Ser2194Phe)
ClinVar dbSNP
5g.112843026delCA915943522APCc.7486del (p.Gln2496ArgfsTer7)
c.*7438del (n.*7438del)
c.7378del (p.Gln2460ArgfsTer7)
c.7432del (p.Gln2478ArgfsTer7)
c.231-13623del
c.7462del (p.Gln2488ArgfsTer7)
c.7357del (p.Gln2453ArgfsTer7)
c.7348del (p.Gln2450ArgfsTer7)
c.7309del (p.Gln2437ArgfsTer7)
c.7255del (p.Gln2419ArgfsTer7)
c.7159del (p.Gln2387ArgfsTer7)
c.7129del (p.Gln2377ArgfsTer7)
c.7054del (p.Gln2352ArgfsTer7)
c.6952del (p.Gln2318ArgfsTer7)
c.6583del (p.Gln2195ArgfsTer7)
ClinVar dbSNP
5g.112843025C>ACA446210647APCc.7485C>A (p.Ser2495=)
c.*7437C>A (n.*7437C>A)
c.7377C>A (p.Ser2459=)
c.7431C>A (p.Ser2477=)
c.231-13624C>A
c.7461C>A (p.Ser2487=)
c.7356C>A (p.Ser2452=)
c.7347C>A (p.Ser2449=)
c.7308C>A (p.Ser2436=)
c.7254C>A (p.Ser2418=)
c.7158C>A (p.Ser2386=)
c.7128C>A (p.Ser2376=)
c.7053C>A (p.Ser2351=)
c.6951C>A (p.Ser2317=)
c.6582C>A (p.Ser2194=)
dbSNP
5g.112843025C=CA1573470682APCc.7485C= (p.Ser2495=)
c.*7437C= (n.*7437C=)
c.7377C= (p.Ser2459=)
c.7431C= (p.Ser2477=)
c.231-13624C=
c.7461C= (p.Ser2487=)
c.7356C= (p.Ser2452=)
c.7347C= (p.Ser2449=)
c.7308C= (p.Ser2436=)
c.7254C= (p.Ser2418=)
c.7158C= (p.Ser2386=)
c.7128C= (p.Ser2376=)
c.7053C= (p.Ser2351=)
c.6951C= (p.Ser2317=)
c.6582C= (p.Ser2194=)
5g.112843025C>GCA446210648APCc.7485C>G (p.Ser2495=)
c.*7437C>G (n.*7437C>G)
c.7377C>G (p.Ser2459=)
c.7431C>G (p.Ser2477=)
c.231-13624C>G
c.7461C>G (p.Ser2487=)
c.7356C>G (p.Ser2452=)
c.7347C>G (p.Ser2449=)
c.7308C>G (p.Ser2436=)
c.7254C>G (p.Ser2418=)
c.7158C>G (p.Ser2386=)
c.7128C>G (p.Ser2376=)
c.7053C>G (p.Ser2351=)
c.6951C>G (p.Ser2317=)
c.6582C>G (p.Ser2194=)
ClinVar dbSNP
5g.112843025C>TCA446210649APCc.7485C>T (p.Ser2495=)
c.*7437C>T (n.*7437C>T)
c.7377C>T (p.Ser2459=)
c.7431C>T (p.Ser2477=)
c.231-13624C>T
c.7461C>T (p.Ser2487=)
c.7356C>T (p.Ser2452=)
c.7347C>T (p.Ser2449=)
c.7308C>T (p.Ser2436=)
c.7254C>T (p.Ser2418=)
c.7158C>T (p.Ser2386=)
c.7128C>T (p.Ser2376=)
c.7053C>T (p.Ser2351=)
c.6951C>T (p.Ser2317=)
c.6582C>T (p.Ser2194=)
ClinVar dbSNP gnomAD v4 COSMIC
5g.112843026C>ACA16037503APCc.7486C>A (p.Gln2496Lys)
c.*7438C>A (n.*7438C>A)
c.7378C>A (p.Gln2460Lys)
c.7432C>A (p.Gln2478Lys)
c.231-13623C>A
c.7462C>A (p.Gln2488Lys)
c.7357C>A (p.Gln2453Lys)
c.7348C>A (p.Gln2450Lys)
c.7309C>A (p.Gln2437Lys)
c.7255C>A (p.Gln2419Lys)
c.7159C>A (p.Gln2387Lys)
c.7129C>A (p.Gln2377Lys)
c.7054C>A (p.Gln2352Lys)
c.6952C>A (p.Gln2318Lys)
c.6583C>A (p.Gln2195Lys)
ClinVar dbSNP
5g.112843026C=CA1573470687APCc.7486C= (p.Gln2496=)
c.*7438C= (n.*7438C=)
c.7378C= (p.Gln2460=)
c.7432C= (p.Gln2478=)
c.231-13623C=
c.7462C= (p.Gln2488=)
c.7357C= (p.Gln2453=)
c.7348C= (p.Gln2450=)
c.7309C= (p.Gln2437=)
c.7255C= (p.Gln2419=)
c.7159C= (p.Gln2387=)
c.7129C= (p.Gln2377=)
c.7054C= (p.Gln2352=)
c.6952C= (p.Gln2318=)
c.6583C= (p.Gln2195=)
5g.112843026C>GCA16037504APCc.7486C>G (p.Gln2496Glu)
c.*7438C>G (n.*7438C>G)
c.7378C>G (p.Gln2460Glu)
c.7432C>G (p.Gln2478Glu)
c.231-13623C>G
c.7462C>G (p.Gln2488Glu)
c.7357C>G (p.Gln2453Glu)
c.7348C>G (p.Gln2450Glu)
c.7309C>G (p.Gln2437Glu)
c.7255C>G (p.Gln2419Glu)
c.7159C>G (p.Gln2387Glu)
c.7129C>G (p.Gln2377Glu)
c.7054C>G (p.Gln2352Glu)
c.6952C>G (p.Gln2318Glu)
c.6583C>G (p.Gln2195Glu)
ClinVar dbSNP
5g.112843026C>TCA16037505APCc.7486C>T (p.Gln2496Ter)
c.*7438C>T (n.*7438C>T)
c.7378C>T (p.Gln2460Ter)
c.7432C>T (p.Gln2478Ter)
c.231-13623C>T
c.7462C>T (p.Gln2488Ter)
c.7357C>T (p.Gln2453Ter)
c.7348C>T (p.Gln2450Ter)
c.7309C>T (p.Gln2437Ter)
c.7255C>T (p.Gln2419Ter)
c.7159C>T (p.Gln2387Ter)
c.7129C>T (p.Gln2377Ter)
c.7054C>T (p.Gln2352Ter)
c.6952C>T (p.Gln2318Ter)
c.6583C>T (p.Gln2195Ter)
dbSNP
5g.112843027A=CA1573470697APCc.7487A= (p.Gln2496=)
c.*7439A= (n.*7439A=)
c.7379A= (p.Gln2460=)
c.7433A= (p.Gln2478=)
c.231-13622A=
c.7463A= (p.Gln2488=)
c.7358A= (p.Gln2453=)
c.7349A= (p.Gln2450=)
c.7310A= (p.Gln2437=)
c.7256A= (p.Gln2419=)
c.7160A= (p.Gln2387=)
c.7130A= (p.Gln2377=)
c.7055A= (p.Gln2352=)
c.6953A= (p.Gln2318=)
c.6584A= (p.Gln2195=)
5g.112843027A>CCA048031APCc.7487A>C (p.Gln2496Pro)
c.*7439A>C (n.*7439A>C)
c.7379A>C (p.Gln2460Pro)
c.7433A>C (p.Gln2478Pro)
c.231-13622A>C
c.7463A>C (p.Gln2488Pro)
c.7358A>C (p.Gln2453Pro)
c.7349A>C (p.Gln2450Pro)
c.7310A>C (p.Gln2437Pro)
c.7256A>C (p.Gln2419Pro)
c.7160A>C (p.Gln2387Pro)
c.7130A>C (p.Gln2377Pro)
c.7055A>C (p.Gln2352Pro)
c.6953A>C (p.Gln2318Pro)
c.6584A>C (p.Gln2195Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843027A>GCA16037506APCc.7487A>G (p.Gln2496Arg)
c.*7439A>G (n.*7439A>G)
c.7379A>G (p.Gln2460Arg)
c.7433A>G (p.Gln2478Arg)
c.231-13622A>G
c.7463A>G (p.Gln2488Arg)
c.7358A>G (p.Gln2453Arg)
c.7349A>G (p.Gln2450Arg)
c.7310A>G (p.Gln2437Arg)
c.7256A>G (p.Gln2419Arg)
c.7160A>G (p.Gln2387Arg)
c.7130A>G (p.Gln2377Arg)
c.7055A>G (p.Gln2352Arg)
c.6953A>G (p.Gln2318Arg)
c.6584A>G (p.Gln2195Arg)
dbSNP
5g.112843027A>TCA16037507APCc.7487A>T (p.Gln2496Leu)
c.*7439A>T (n.*7439A>T)
c.7379A>T (p.Gln2460Leu)
c.7433A>T (p.Gln2478Leu)
c.231-13622A>T
c.7463A>T (p.Gln2488Leu)
c.7358A>T (p.Gln2453Leu)
c.7349A>T (p.Gln2450Leu)
c.7310A>T (p.Gln2437Leu)
c.7256A>T (p.Gln2419Leu)
c.7160A>T (p.Gln2387Leu)
c.7130A>T (p.Gln2377Leu)
c.7055A>T (p.Gln2352Leu)
c.6953A>T (p.Gln2318Leu)
c.6584A>T (p.Gln2195Leu)
dbSNP
5g.112843028G>ACA446210656APCc.7488G>A (p.Gln2496=)
c.*7440G>A (n.*7440G>A)
c.7380G>A (p.Gln2460=)
c.7434G>A (p.Gln2478=)
c.231-13621G>A
c.7464G>A (p.Gln2488=)
c.7359G>A (p.Gln2453=)
c.7350G>A (p.Gln2450=)
c.7311G>A (p.Gln2437=)
c.7257G>A (p.Gln2419=)
c.7161G>A (p.Gln2387=)
c.7131G>A (p.Gln2377=)
c.7056G>A (p.Gln2352=)
c.6954G>A (p.Gln2318=)
c.6585G>A (p.Gln2195=)
ClinVar dbSNP
5g.112843028G>CCA16037508APCc.7488G>C (p.Gln2496His)
c.*7440G>C (n.*7440G>C)
c.7380G>C (p.Gln2460His)
c.7434G>C (p.Gln2478His)
c.231-13621G>C
c.7464G>C (p.Gln2488His)
c.7359G>C (p.Gln2453His)
c.7350G>C (p.Gln2450His)
c.7311G>C (p.Gln2437His)
c.7257G>C (p.Gln2419His)
c.7161G>C (p.Gln2387His)
c.7131G>C (p.Gln2377His)
c.7056G>C (p.Gln2352His)
c.6954G>C (p.Gln2318His)
c.6585G>C (p.Gln2195His)
dbSNP
5g.112843028G=CA1573470704APCc.7488G= (p.Gln2496=)
c.*7440G= (n.*7440G=)
c.7380G= (p.Gln2460=)
c.7434G= (p.Gln2478=)
c.231-13621G=
c.7464G= (p.Gln2488=)
c.7359G= (p.Gln2453=)
c.7350G= (p.Gln2450=)
c.7311G= (p.Gln2437=)
c.7257G= (p.Gln2419=)
c.7161G= (p.Gln2387=)
c.7131G= (p.Gln2377=)
c.7056G= (p.Gln2352=)
c.6954G= (p.Gln2318=)
c.6585G= (p.Gln2195=)
5g.112843028G>TCA16037509APCc.7488G>T (p.Gln2496His)
c.*7440G>T (n.*7440G>T)
c.7380G>T (p.Gln2460His)
c.7434G>T (p.Gln2478His)
c.231-13621G>T
c.7464G>T (p.Gln2488His)
c.7359G>T (p.Gln2453His)
c.7350G>T (p.Gln2450His)
c.7311G>T (p.Gln2437His)
c.7257G>T (p.Gln2419His)
c.7161G>T (p.Gln2387His)
c.7131G>T (p.Gln2377His)
c.7056G>T (p.Gln2352His)
c.6954G>T (p.Gln2318His)
c.6585G>T (p.Gln2195His)
ClinVar dbSNP
5g.112843029G>ACA16037510APCc.7489G>A (p.Ala2497Thr)
c.*7441G>A (n.*7441G>A)
c.7381G>A (p.Ala2461Thr)
c.7435G>A (p.Ala2479Thr)
c.231-13620G>A
c.7465G>A (p.Ala2489Thr)
c.7360G>A (p.Ala2454Thr)
c.7351G>A (p.Ala2451Thr)
c.7312G>A (p.Ala2438Thr)
c.7258G>A (p.Ala2420Thr)
c.7162G>A (p.Ala2388Thr)
c.7132G>A (p.Ala2378Thr)
c.7057G>A (p.Ala2353Thr)
c.6955G>A (p.Ala2319Thr)
c.6586G>A (p.Ala2196Thr)
ClinVar dbSNP
5g.112843029G>CCA16037511APCc.7489G>C (p.Ala2497Pro)
c.*7441G>C (n.*7441G>C)
c.7381G>C (p.Ala2461Pro)
c.7435G>C (p.Ala2479Pro)
c.231-13620G>C
c.7465G>C (p.Ala2489Pro)
c.7360G>C (p.Ala2454Pro)
c.7351G>C (p.Ala2451Pro)
c.7312G>C (p.Ala2438Pro)
c.7258G>C (p.Ala2420Pro)
c.7162G>C (p.Ala2388Pro)
c.7132G>C (p.Ala2378Pro)
c.7057G>C (p.Ala2353Pro)
c.6955G>C (p.Ala2319Pro)
c.6586G>C (p.Ala2196Pro)
dbSNP gnomAD v4
5g.112843029G=CA1573470711APCc.7489G= (p.Ala2497=)
c.*7441G= (n.*7441G=)
c.7381G= (p.Ala2461=)
c.7435G= (p.Ala2479=)
c.231-13620G=
c.7465G= (p.Ala2489=)
c.7360G= (p.Ala2454=)
c.7351G= (p.Ala2451=)
c.7312G= (p.Ala2438=)
c.7258G= (p.Ala2420=)
c.7162G= (p.Ala2388=)
c.7132G= (p.Ala2378=)
c.7057G= (p.Ala2353=)
c.6955G= (p.Ala2319=)
c.6586G= (p.Ala2196=)
5g.112843029G>TCA16037512APCc.7489G>T (p.Ala2497Ser)
c.*7441G>T (n.*7441G>T)
c.7381G>T (p.Ala2461Ser)
c.7435G>T (p.Ala2479Ser)
c.231-13620G>T
c.7465G>T (p.Ala2489Ser)
c.7360G>T (p.Ala2454Ser)
c.7351G>T (p.Ala2451Ser)
c.7312G>T (p.Ala2438Ser)
c.7258G>T (p.Ala2420Ser)
c.7162G>T (p.Ala2388Ser)
c.7132G>T (p.Ala2378Ser)
c.7057G>T (p.Ala2353Ser)
c.6955G>T (p.Ala2319Ser)
c.6586G>T (p.Ala2196Ser)
dbSNP
5g.112843030C>ACA16037513APCc.7490C>A (p.Ala2497Glu)
c.*7442C>A (n.*7442C>A)
c.7382C>A (p.Ala2461Glu)
c.7436C>A (p.Ala2479Glu)
c.231-13619C>A
c.7466C>A (p.Ala2489Glu)
c.7361C>A (p.Ala2454Glu)
c.7352C>A (p.Ala2451Glu)
c.7313C>A (p.Ala2438Glu)
c.7259C>A (p.Ala2420Glu)
c.7163C>A (p.Ala2388Glu)
c.7133C>A (p.Ala2378Glu)
c.7058C>A (p.Ala2353Glu)
c.6956C>A (p.Ala2319Glu)
c.6587C>A (p.Ala2196Glu)
dbSNP
5g.112843030C>GCA16037514APCc.7490C>G (p.Ala2497Gly)
c.*7442C>G (n.*7442C>G)
c.7382C>G (p.Ala2461Gly)
c.7436C>G (p.Ala2479Gly)
c.231-13619C>G
c.7466C>G (p.Ala2489Gly)
c.7361C>G (p.Ala2454Gly)
c.7352C>G (p.Ala2451Gly)
c.7313C>G (p.Ala2438Gly)
c.7259C>G (p.Ala2420Gly)
c.7163C>G (p.Ala2388Gly)
c.7133C>G (p.Ala2378Gly)
c.7058C>G (p.Ala2353Gly)
c.6956C>G (p.Ala2319Gly)
c.6587C>G (p.Ala2196Gly)
dbSNP
5g.112843030C>TCA16037515APCc.7490C>T (p.Ala2497Val)
c.*7442C>T (n.*7442C>T)
c.7382C>T (p.Ala2461Val)
c.7436C>T (p.Ala2479Val)
c.231-13619C>T
c.7466C>T (p.Ala2489Val)
c.7361C>T (p.Ala2454Val)
c.7352C>T (p.Ala2451Val)
c.7313C>T (p.Ala2438Val)
c.7259C>T (p.Ala2420Val)
c.7163C>T (p.Ala2388Val)
c.7133C>T (p.Ala2378Val)
c.7058C>T (p.Ala2353Val)
c.6956C>T (p.Ala2319Val)
c.6587C>T (p.Ala2196Val)
ClinVar dbSNP
5g.112843031A>CCA446210668APCc.7491A>C (p.Ala2497=)
c.*7443A>C (n.*7443A>C)
c.7383A>C (p.Ala2461=)
c.7437A>C (p.Ala2479=)
c.231-13618A>C
c.7467A>C (p.Ala2489=)
c.7362A>C (p.Ala2454=)
c.7353A>C (p.Ala2451=)
c.7314A>C (p.Ala2438=)
c.7260A>C (p.Ala2420=)
c.7164A>C (p.Ala2388=)
c.7134A>C (p.Ala2378=)
c.7059A>C (p.Ala2353=)
c.6957A>C (p.Ala2319=)
c.6588A>C (p.Ala2196=)
dbSNP
5g.112843031A>GCA446210672APCc.7491A>G (p.Ala2497=)
c.*7443A>G (n.*7443A>G)
c.7383A>G (p.Ala2461=)
c.7437A>G (p.Ala2479=)
c.231-13618A>G
c.7467A>G (p.Ala2489=)
c.7362A>G (p.Ala2454=)
c.7353A>G (p.Ala2451=)
c.7314A>G (p.Ala2438=)
c.7260A>G (p.Ala2420=)
c.7164A>G (p.Ala2388=)
c.7134A>G (p.Ala2378=)
c.7059A>G (p.Ala2353=)
c.6957A>G (p.Ala2319=)
c.6588A>G (p.Ala2196=)
dbSNP
5g.112843031A>TCA446210674APCc.7491A>T (p.Ala2497=)
c.*7443A>T (n.*7443A>T)
c.7383A>T (p.Ala2461=)
c.7437A>T (p.Ala2479=)
c.231-13618A>T
c.7467A>T (p.Ala2489=)
c.7362A>T (p.Ala2454=)
c.7353A>T (p.Ala2451=)
c.7314A>T (p.Ala2438=)
c.7260A>T (p.Ala2420=)
c.7164A>T (p.Ala2388=)
c.7134A>T (p.Ala2378=)
c.7059A>T (p.Ala2353=)
c.6957A>T (p.Ala2319=)
c.6588A>T (p.Ala2196=)
dbSNP

Number of alleles fetched