Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112843043T>ACA446210707APCc.7503T>A (p.Val2501=)
c.*7455T>A (n.*7455T>A)
c.7395T>A (p.Val2465=)
c.7449T>A (p.Val2483=)
c.231-13606T>A
c.7479T>A (p.Val2493=)
c.7374T>A (p.Val2458=)
c.7365T>A (p.Val2455=)
c.7326T>A (p.Val2442=)
c.7272T>A (p.Val2424=)
c.7176T>A (p.Val2392=)
c.7146T>A (p.Val2382=)
c.7071T>A (p.Val2357=)
c.6969T>A (p.Val2323=)
c.6600T>A (p.Val2200=)
dbSNP
5g.112843043T>CCA446210708APCc.7503T>C (p.Val2501=)
c.*7455T>C (n.*7455T>C)
c.7395T>C (p.Val2465=)
c.7449T>C (p.Val2483=)
c.231-13606T>C
c.7479T>C (p.Val2493=)
c.7374T>C (p.Val2458=)
c.7365T>C (p.Val2455=)
c.7326T>C (p.Val2442=)
c.7272T>C (p.Val2424=)
c.7176T>C (p.Val2392=)
c.7146T>C (p.Val2382=)
c.7071T>C (p.Val2357=)
c.6969T>C (p.Val2323=)
c.6600T>C (p.Val2200=)
dbSNP
5g.112843043T>GCA446210710APCc.7503T>G (p.Val2501=)
c.*7455T>G (n.*7455T>G)
c.7395T>G (p.Val2465=)
c.7449T>G (p.Val2483=)
c.231-13606T>G
c.7479T>G (p.Val2493=)
c.7374T>G (p.Val2458=)
c.7365T>G (p.Val2455=)
c.7326T>G (p.Val2442=)
c.7272T>G (p.Val2424=)
c.7176T>G (p.Val2392=)
c.7146T>G (p.Val2382=)
c.7071T>G (p.Val2357=)
c.6969T>G (p.Val2323=)
c.6600T>G (p.Val2200=)
5g.112843044T>ACA16037541APCc.7504T>A (p.Leu2502Ile)
c.*7456T>A (n.*7456T>A)
c.7396T>A (p.Leu2466Ile)
c.7450T>A (p.Leu2484Ile)
c.231-13605T>A
c.7480T>A (p.Leu2494Ile)
c.7375T>A (p.Leu2459Ile)
c.7366T>A (p.Leu2456Ile)
c.7327T>A (p.Leu2443Ile)
c.7273T>A (p.Leu2425Ile)
c.7177T>A (p.Leu2393Ile)
c.7147T>A (p.Leu2383Ile)
c.7072T>A (p.Leu2358Ile)
c.6970T>A (p.Leu2324Ile)
c.6601T>A (p.Leu2201Ile)
dbSNP
5g.112843044T>CCA446210715APCc.7504T>C (p.Leu2502=)
c.*7456T>C (n.*7456T>C)
c.7396T>C (p.Leu2466=)
c.7450T>C (p.Leu2484=)
c.231-13605T>C
c.7480T>C (p.Leu2494=)
c.7375T>C (p.Leu2459=)
c.7366T>C (p.Leu2456=)
c.7327T>C (p.Leu2443=)
c.7273T>C (p.Leu2425=)
c.7177T>C (p.Leu2393=)
c.7147T>C (p.Leu2383=)
c.7072T>C (p.Leu2358=)
c.6970T>C (p.Leu2324=)
c.6601T>C (p.Leu2201=)
5g.112843044T>GCA16037542APCc.7504T>G (p.Leu2502Val)
c.*7456T>G (n.*7456T>G)
c.7396T>G (p.Leu2466Val)
c.7450T>G (p.Leu2484Val)
c.231-13605T>G
c.7480T>G (p.Leu2494Val)
c.7375T>G (p.Leu2459Val)
c.7366T>G (p.Leu2456Val)
c.7327T>G (p.Leu2443Val)
c.7273T>G (p.Leu2425Val)
c.7177T>G (p.Leu2393Val)
c.7147T>G (p.Leu2383Val)
c.7072T>G (p.Leu2358Val)
c.6970T>G (p.Leu2324Val)
c.6601T>G (p.Leu2201Val)
5g.112843045T>ACA16037543APCc.7505T>A (p.Leu2502Ter)
c.*7457T>A (n.*7457T>A)
c.7397T>A (p.Leu2466Ter)
c.7451T>A (p.Leu2484Ter)
c.231-13604T>A
c.7481T>A (p.Leu2494Ter)
c.7376T>A (p.Leu2459Ter)
c.7367T>A (p.Leu2456Ter)
c.7328T>A (p.Leu2443Ter)
c.7274T>A (p.Leu2425Ter)
c.7178T>A (p.Leu2393Ter)
c.7148T>A (p.Leu2383Ter)
c.7073T>A (p.Leu2358Ter)
c.6971T>A (p.Leu2324Ter)
c.6602T>A (p.Leu2201Ter)
5g.112843045T>CCA16037544APCc.7505T>C (p.Leu2502Ser)
c.*7457T>C (n.*7457T>C)
c.7397T>C (p.Leu2466Ser)
c.7451T>C (p.Leu2484Ser)
c.231-13604T>C
c.7481T>C (p.Leu2494Ser)
c.7376T>C (p.Leu2459Ser)
c.7367T>C (p.Leu2456Ser)
c.7328T>C (p.Leu2443Ser)
c.7274T>C (p.Leu2425Ser)
c.7178T>C (p.Leu2393Ser)
c.7148T>C (p.Leu2383Ser)
c.7073T>C (p.Leu2358Ser)
c.6971T>C (p.Leu2324Ser)
c.6602T>C (p.Leu2201Ser)
5g.112843045T>GCA16037545APCc.7505T>G (p.Leu2502Ter)
c.*7457T>G (n.*7457T>G)
c.7397T>G (p.Leu2466Ter)
c.7451T>G (p.Leu2484Ter)
c.231-13604T>G
c.7481T>G (p.Leu2494Ter)
c.7376T>G (p.Leu2459Ter)
c.7367T>G (p.Leu2456Ter)
c.7328T>G (p.Leu2443Ter)
c.7274T>G (p.Leu2425Ter)
c.7178T>G (p.Leu2393Ter)
c.7148T>G (p.Leu2383Ter)
c.7073T>G (p.Leu2358Ter)
c.6971T>G (p.Leu2324Ter)
c.6602T>G (p.Leu2201Ter)
5g.112843045_112843046insTGCA2580072377APCc.7505_7506insTG (p.Leu2502PhefsTer?)
c.*7457_*7458insTG (n.*7457_*7458insTG)
c.7397_7398insTG (p.Leu2466PhefsTer?)
c.7451_7452insTG (p.Leu2484PhefsTer?)
c.231-13604_231-13603insTG
c.7481_7482insTG (p.Leu2494PhefsTer?)
c.7376_7377insTG (p.Leu2459PhefsTer?)
c.7367_7368insTG (p.Leu2456PhefsTer?)
c.7328_7329insTG (p.Leu2443PhefsTer?)
c.7274_7275insTG (p.Leu2425PhefsTer?)
c.7178_7179insTG (p.Leu2393PhefsTer?)
c.7148_7149insTG (p.Leu2383PhefsTer?)
c.7073_7074insTG (p.Leu2358PhefsTer?)
c.6971_6972insTG (p.Leu2324PhefsTer?)
c.6602_6603insTG (p.Leu2201PhefsTer?)
ClinVar dbSNP
5g.112843046A=CA1573470802APCc.7506A= (p.Leu2502=)
c.*7458A= (n.*7458A=)
c.7398A= (p.Leu2466=)
c.7452A= (p.Leu2484=)
c.231-13603A=
c.7482A= (p.Leu2494=)
c.7377A= (p.Leu2459=)
c.7368A= (p.Leu2456=)
c.7329A= (p.Leu2443=)
c.7275A= (p.Leu2425=)
c.7179A= (p.Leu2393=)
c.7149A= (p.Leu2383=)
c.7074A= (p.Leu2358=)
c.6972A= (p.Leu2324=)
c.6603A= (p.Leu2201=)
5g.112843046A>CCA16037546APCc.7506A>C (p.Leu2502Phe)
c.*7458A>C (n.*7458A>C)
c.7398A>C (p.Leu2466Phe)
c.7452A>C (p.Leu2484Phe)
c.231-13603A>C
c.7482A>C (p.Leu2494Phe)
c.7377A>C (p.Leu2459Phe)
c.7368A>C (p.Leu2456Phe)
c.7329A>C (p.Leu2443Phe)
c.7275A>C (p.Leu2425Phe)
c.7179A>C (p.Leu2393Phe)
c.7149A>C (p.Leu2383Phe)
c.7074A>C (p.Leu2358Phe)
c.6972A>C (p.Leu2324Phe)
c.6603A>C (p.Leu2201Phe)
5g.112843046A>GCA446210718APCc.7506A>G (p.Leu2502=)
c.*7458A>G (n.*7458A>G)
c.7398A>G (p.Leu2466=)
c.7452A>G (p.Leu2484=)
c.231-13603A>G
c.7482A>G (p.Leu2494=)
c.7377A>G (p.Leu2459=)
c.7368A>G (p.Leu2456=)
c.7329A>G (p.Leu2443=)
c.7275A>G (p.Leu2425=)
c.7179A>G (p.Leu2393=)
c.7149A>G (p.Leu2383=)
c.7074A>G (p.Leu2358=)
c.6972A>G (p.Leu2324=)
c.6603A>G (p.Leu2201=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843046A>TCA16037547APCc.7506A>T (p.Leu2502Phe)
c.*7458A>T (n.*7458A>T)
c.7398A>T (p.Leu2466Phe)
c.7452A>T (p.Leu2484Phe)
c.231-13603A>T
c.7482A>T (p.Leu2494Phe)
c.7377A>T (p.Leu2459Phe)
c.7368A>T (p.Leu2456Phe)
c.7329A>T (p.Leu2443Phe)
c.7275A>T (p.Leu2425Phe)
c.7179A>T (p.Leu2393Phe)
c.7149A>T (p.Leu2383Phe)
c.7074A>T (p.Leu2358Phe)
c.6972A>T (p.Leu2324Phe)
c.6603A>T (p.Leu2201Phe)
dbSNP
5g.112843047delCA2695205082APCc.7507del (p.Ser2503ValfsTer?)
c.*7459del (n.*7459del)
c.7399del (p.Ser2467ValfsTer?)
c.7453del (p.Ser2485ValfsTer?)
c.231-13602del
c.7483del (p.Ser2495ValfsTer?)
c.7378del (p.Ser2460ValfsTer?)
c.7369del (p.Ser2457ValfsTer?)
c.7330del (p.Ser2444ValfsTer?)
c.7276del (p.Ser2426ValfsTer?)
c.7180del (p.Ser2394ValfsTer?)
c.7150del (p.Ser2384ValfsTer?)
c.7075del (p.Ser2359ValfsTer?)
c.6973del (p.Ser2325ValfsTer?)
c.6604del (p.Ser2202ValfsTer?)
5g.112843047A>CCA16037548APCc.7507A>C (p.Ser2503Arg)
c.*7459A>C (n.*7459A>C)
c.7399A>C (p.Ser2467Arg)
c.7453A>C (p.Ser2485Arg)
c.231-13602A>C
c.7483A>C (p.Ser2495Arg)
c.7378A>C (p.Ser2460Arg)
c.7369A>C (p.Ser2457Arg)
c.7330A>C (p.Ser2444Arg)
c.7276A>C (p.Ser2426Arg)
c.7180A>C (p.Ser2394Arg)
c.7150A>C (p.Ser2384Arg)
c.7075A>C (p.Ser2359Arg)
c.6973A>C (p.Ser2325Arg)
c.6604A>C (p.Ser2202Arg)
5g.112843047A>GCA16037549APCc.7507A>G (p.Ser2503Gly)
c.*7459A>G (n.*7459A>G)
c.7399A>G (p.Ser2467Gly)
c.7453A>G (p.Ser2485Gly)
c.231-13602A>G
c.7483A>G (p.Ser2495Gly)
c.7378A>G (p.Ser2460Gly)
c.7369A>G (p.Ser2457Gly)
c.7330A>G (p.Ser2444Gly)
c.7276A>G (p.Ser2426Gly)
c.7180A>G (p.Ser2394Gly)
c.7150A>G (p.Ser2384Gly)
c.7075A>G (p.Ser2359Gly)
c.6973A>G (p.Ser2325Gly)
c.6604A>G (p.Ser2202Gly)
dbSNP
5g.112843047A>TCA16037550APCc.7507A>T (p.Ser2503Cys)
c.*7459A>T (n.*7459A>T)
c.7399A>T (p.Ser2467Cys)
c.7453A>T (p.Ser2485Cys)
c.231-13602A>T
c.7483A>T (p.Ser2495Cys)
c.7378A>T (p.Ser2460Cys)
c.7369A>T (p.Ser2457Cys)
c.7330A>T (p.Ser2444Cys)
c.7276A>T (p.Ser2426Cys)
c.7180A>T (p.Ser2394Cys)
c.7150A>T (p.Ser2384Cys)
c.7075A>T (p.Ser2359Cys)
c.6973A>T (p.Ser2325Cys)
c.6604A>T (p.Ser2202Cys)
dbSNP
5g.112843048G>ACA16037551APCc.7508G>A (p.Ser2503Asn)
c.*7460G>A (n.*7460G>A)
c.7400G>A (p.Ser2467Asn)
c.7454G>A (p.Ser2485Asn)
c.231-13601G>A
c.7484G>A (p.Ser2495Asn)
c.7379G>A (p.Ser2460Asn)
c.7370G>A (p.Ser2457Asn)
c.7331G>A (p.Ser2444Asn)
c.7277G>A (p.Ser2426Asn)
c.7181G>A (p.Ser2394Asn)
c.7151G>A (p.Ser2384Asn)
c.7076G>A (p.Ser2359Asn)
c.6974G>A (p.Ser2325Asn)
c.6605G>A (p.Ser2202Asn)
dbSNP
5g.112843048G>CCA048083APCc.7508G>C (p.Ser2503Thr)
c.*7460G>C (n.*7460G>C)
c.7400G>C (p.Ser2467Thr)
c.7454G>C (p.Ser2485Thr)
c.231-13601G>C
c.7484G>C (p.Ser2495Thr)
c.7379G>C (p.Ser2460Thr)
c.7370G>C (p.Ser2457Thr)
c.7331G>C (p.Ser2444Thr)
c.7277G>C (p.Ser2426Thr)
c.7181G>C (p.Ser2394Thr)
c.7151G>C (p.Ser2384Thr)
c.7076G>C (p.Ser2359Thr)
c.6974G>C (p.Ser2325Thr)
c.6605G>C (p.Ser2202Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843048G=CA1573470806APCc.7508G= (p.Ser2503=)
c.*7460G= (n.*7460G=)
c.7400G= (p.Ser2467=)
c.7454G= (p.Ser2485=)
c.231-13601G=
c.7484G= (p.Ser2495=)
c.7379G= (p.Ser2460=)
c.7370G= (p.Ser2457=)
c.7331G= (p.Ser2444=)
c.7277G= (p.Ser2426=)
c.7181G= (p.Ser2394=)
c.7151G= (p.Ser2384=)
c.7076G= (p.Ser2359=)
c.6974G= (p.Ser2325=)
c.6605G= (p.Ser2202=)
5g.112843048G>TCA16037552APCc.7508G>T (p.Ser2503Ile)
c.*7460G>T (n.*7460G>T)
c.7400G>T (p.Ser2467Ile)
c.7454G>T (p.Ser2485Ile)
c.231-13601G>T
c.7484G>T (p.Ser2495Ile)
c.7379G>T (p.Ser2460Ile)
c.7370G>T (p.Ser2457Ile)
c.7331G>T (p.Ser2444Ile)
c.7277G>T (p.Ser2426Ile)
c.7181G>T (p.Ser2394Ile)
c.7151G>T (p.Ser2384Ile)
c.7076G>T (p.Ser2359Ile)
c.6974G>T (p.Ser2325Ile)
c.6605G>T (p.Ser2202Ile)
5g.112843049T>ACA16037553APCc.7509T>A (p.Ser2503Arg)
c.*7461T>A (n.*7461T>A)
c.7401T>A (p.Ser2467Arg)
c.7455T>A (p.Ser2485Arg)
c.231-13600T>A
c.7485T>A (p.Ser2495Arg)
c.7380T>A (p.Ser2460Arg)
c.7371T>A (p.Ser2457Arg)
c.7332T>A (p.Ser2444Arg)
c.7278T>A (p.Ser2426Arg)
c.7182T>A (p.Ser2394Arg)
c.7152T>A (p.Ser2384Arg)
c.7077T>A (p.Ser2359Arg)
c.6975T>A (p.Ser2325Arg)
c.6606T>A (p.Ser2202Arg)
dbSNP gnomAD v4
5g.112843049T>CCA446210726APCc.7509T>C (p.Ser2503=)
c.*7461T>C (n.*7461T>C)
c.7401T>C (p.Ser2467=)
c.7455T>C (p.Ser2485=)
c.231-13600T>C
c.7485T>C (p.Ser2495=)
c.7380T>C (p.Ser2460=)
c.7371T>C (p.Ser2457=)
c.7332T>C (p.Ser2444=)
c.7278T>C (p.Ser2426=)
c.7182T>C (p.Ser2394=)
c.7152T>C (p.Ser2384=)
c.7077T>C (p.Ser2359=)
c.6975T>C (p.Ser2325=)
c.6606T>C (p.Ser2202=)
5g.112843049T>GCA16037554APCc.7509T>G (p.Ser2503Arg)
c.*7461T>G (n.*7461T>G)
c.7401T>G (p.Ser2467Arg)
c.7455T>G (p.Ser2485Arg)
c.231-13600T>G
c.7485T>G (p.Ser2495Arg)
c.7380T>G (p.Ser2460Arg)
c.7371T>G (p.Ser2457Arg)
c.7332T>G (p.Ser2444Arg)
c.7278T>G (p.Ser2426Arg)
c.7182T>G (p.Ser2394Arg)
c.7152T>G (p.Ser2384Arg)
c.7077T>G (p.Ser2359Arg)
c.6975T>G (p.Ser2325Arg)
c.6606T>G (p.Ser2202Arg)
5g.112843052_112843055delCA2695205083APCc.7512_7515del (p.Ser2505PhefsTer28)
c.*7464_*7467del (n.*7464_*7467del)
c.7404_7407del (p.Ser2469PhefsTer28)
c.7458_7461del (p.Ser2487PhefsTer28)
c.231-13597_231-13594del
c.7488_7491del (p.Ser2497PhefsTer28)
c.7383_7386del (p.Ser2462PhefsTer28)
c.7374_7377del (p.Ser2459PhefsTer28)
c.7335_7338del (p.Ser2446PhefsTer28)
c.7281_7284del (p.Ser2428PhefsTer28)
c.7185_7188del (p.Ser2396PhefsTer28)
c.7155_7158del (p.Ser2386PhefsTer28)
c.7080_7083del (p.Ser2361PhefsTer28)
c.6978_6981del (p.Ser2327PhefsTer28)
c.6609_6612del (p.Ser2204PhefsTer28)
5g.112843050C>ACA16037555APCc.7510C>A (p.Pro2504Thr)
c.*7462C>A (n.*7462C>A)
c.7402C>A (p.Pro2468Thr)
c.7456C>A (p.Pro2486Thr)
c.231-13599C>A
c.7486C>A (p.Pro2496Thr)
c.7381C>A (p.Pro2461Thr)
c.7372C>A (p.Pro2458Thr)
c.7333C>A (p.Pro2445Thr)
c.7279C>A (p.Pro2427Thr)
c.7183C>A (p.Pro2395Thr)
c.7153C>A (p.Pro2385Thr)
c.7078C>A (p.Pro2360Thr)
c.6976C>A (p.Pro2326Thr)
c.6607C>A (p.Pro2203Thr)
dbSNP
5g.112843050C=CA1573470814APCc.7510C= (p.Pro2504=)
c.*7462C= (n.*7462C=)
c.7402C= (p.Pro2468=)
c.7456C= (p.Pro2486=)
c.231-13599C=
c.7486C= (p.Pro2496=)
c.7381C= (p.Pro2461=)
c.7372C= (p.Pro2458=)
c.7333C= (p.Pro2445=)
c.7279C= (p.Pro2427=)
c.7183C= (p.Pro2395=)
c.7153C= (p.Pro2385=)
c.7078C= (p.Pro2360=)
c.6976C= (p.Pro2326=)
c.6607C= (p.Pro2203=)
5g.112843050C>GCA16037556APCc.7510C>G (p.Pro2504Ala)
c.*7462C>G (n.*7462C>G)
c.7402C>G (p.Pro2468Ala)
c.7456C>G (p.Pro2486Ala)
c.231-13599C>G
c.7486C>G (p.Pro2496Ala)
c.7381C>G (p.Pro2461Ala)
c.7372C>G (p.Pro2458Ala)
c.7333C>G (p.Pro2445Ala)
c.7279C>G (p.Pro2427Ala)
c.7183C>G (p.Pro2395Ala)
c.7153C>G (p.Pro2385Ala)
c.7078C>G (p.Pro2360Ala)
c.6976C>G (p.Pro2326Ala)
c.6607C>G (p.Pro2203Ala)
dbSNP
5g.112843050C>TCA048101APCc.7510C>T (p.Pro2504Ser)
c.*7462C>T (n.*7462C>T)
c.7402C>T (p.Pro2468Ser)
c.7456C>T (p.Pro2486Ser)
c.231-13599C>T
c.7486C>T (p.Pro2496Ser)
c.7381C>T (p.Pro2461Ser)
c.7372C>T (p.Pro2458Ser)
c.7333C>T (p.Pro2445Ser)
c.7279C>T (p.Pro2427Ser)
c.7183C>T (p.Pro2395Ser)
c.7153C>T (p.Pro2385Ser)
c.7078C>T (p.Pro2360Ser)
c.6976C>T (p.Pro2326Ser)
c.6607C>T (p.Pro2203Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843056_112843060delCA2709980657APCc.7516_7520del (p.Leu2506Ter)
c.*7468_*7472del (n.*7468_*7472del)
c.7408_7412del (p.Leu2470Ter)
c.7462_7466del (p.Leu2488Ter)
c.231-13593_231-13589del
c.7492_7496del (p.Leu2498Ter)
c.7387_7391del (p.Leu2463Ter)
c.7378_7382del (p.Leu2460Ter)
c.7339_7343del (p.Leu2447Ter)
c.7285_7289del (p.Leu2429Ter)
c.7189_7193del (p.Leu2397Ter)
c.7159_7163del (p.Leu2387Ter)
c.7084_7088del (p.Leu2362Ter)
c.6982_6986del (p.Leu2328Ter)
c.6613_6617del (p.Leu2205Ter)
dbSNP
5g.112843051C>ACA16037557APCc.7511C>A (p.Pro2504His)
c.*7463C>A (n.*7463C>A)
c.7403C>A (p.Pro2468His)
c.7457C>A (p.Pro2486His)
c.231-13598C>A
c.7487C>A (p.Pro2496His)
c.7382C>A (p.Pro2461His)
c.7373C>A (p.Pro2458His)
c.7334C>A (p.Pro2445His)
c.7280C>A (p.Pro2427His)
c.7184C>A (p.Pro2395His)
c.7154C>A (p.Pro2385His)
c.7079C>A (p.Pro2360His)
c.6977C>A (p.Pro2326His)
c.6608C>A (p.Pro2203His)
dbSNP
5g.112843051C=CA1573470820APCc.7511C= (p.Pro2504=)
c.*7463C= (n.*7463C=)
c.7403C= (p.Pro2468=)
c.7457C= (p.Pro2486=)
c.231-13598C=
c.7487C= (p.Pro2496=)
c.7382C= (p.Pro2461=)
c.7373C= (p.Pro2458=)
c.7334C= (p.Pro2445=)
c.7280C= (p.Pro2427=)
c.7184C= (p.Pro2395=)
c.7154C= (p.Pro2385=)
c.7079C= (p.Pro2360=)
c.6977C= (p.Pro2326=)
c.6608C= (p.Pro2203=)
5g.112843051C>GCA16037558APCc.7511C>G (p.Pro2504Arg)
c.*7463C>G (n.*7463C>G)
c.7403C>G (p.Pro2468Arg)
c.7457C>G (p.Pro2486Arg)
c.231-13598C>G
c.7487C>G (p.Pro2496Arg)
c.7382C>G (p.Pro2461Arg)
c.7373C>G (p.Pro2458Arg)
c.7334C>G (p.Pro2445Arg)
c.7280C>G (p.Pro2427Arg)
c.7184C>G (p.Pro2395Arg)
c.7154C>G (p.Pro2385Arg)
c.7079C>G (p.Pro2360Arg)
c.6977C>G (p.Pro2326Arg)
c.6608C>G (p.Pro2203Arg)
dbSNP
5g.112843051C>TCA16037559APCc.7511C>T (p.Pro2504Leu)
c.*7463C>T (n.*7463C>T)
c.7403C>T (p.Pro2468Leu)
c.7457C>T (p.Pro2486Leu)
c.231-13598C>T
c.7487C>T (p.Pro2496Leu)
c.7382C>T (p.Pro2461Leu)
c.7373C>T (p.Pro2458Leu)
c.7334C>T (p.Pro2445Leu)
c.7280C>T (p.Pro2427Leu)
c.7184C>T (p.Pro2395Leu)
c.7154C>T (p.Pro2385Leu)
c.7079C>T (p.Pro2360Leu)
c.6977C>T (p.Pro2326Leu)
c.6608C>T (p.Pro2203Leu)
ClinVar dbSNP gnomAD v4
5g.112843052T>ACA446210735APCc.7512T>A (p.Pro2504=)
c.*7464T>A (n.*7464T>A)
c.7404T>A (p.Pro2468=)
c.7458T>A (p.Pro2486=)
c.231-13597T>A
c.7488T>A (p.Pro2496=)
c.7383T>A (p.Pro2461=)
c.7374T>A (p.Pro2458=)
c.7335T>A (p.Pro2445=)
c.7281T>A (p.Pro2427=)
c.7185T>A (p.Pro2395=)
c.7155T>A (p.Pro2385=)
c.7080T>A (p.Pro2360=)
c.6978T>A (p.Pro2326=)
c.6609T>A (p.Pro2203=)
dbSNP
5g.112843052T>CCA446210739APCc.7512T>C (p.Pro2504=)
c.*7464T>C (n.*7464T>C)
c.7404T>C (p.Pro2468=)
c.7458T>C (p.Pro2486=)
c.231-13597T>C
c.7488T>C (p.Pro2496=)
c.7383T>C (p.Pro2461=)
c.7374T>C (p.Pro2458=)
c.7335T>C (p.Pro2445=)
c.7281T>C (p.Pro2427=)
c.7185T>C (p.Pro2395=)
c.7155T>C (p.Pro2385=)
c.7080T>C (p.Pro2360=)
c.6978T>C (p.Pro2326=)
c.6609T>C (p.Pro2203=)
ClinVar dbSNP
5g.112843052T>GCA446210741APCc.7512T>G (p.Pro2504=)
c.*7464T>G (n.*7464T>G)
c.7404T>G (p.Pro2468=)
c.7458T>G (p.Pro2486=)
c.231-13597T>G
c.7488T>G (p.Pro2496=)
c.7383T>G (p.Pro2461=)
c.7374T>G (p.Pro2458=)
c.7335T>G (p.Pro2445=)
c.7281T>G (p.Pro2427=)
c.7185T>G (p.Pro2395=)
c.7155T>G (p.Pro2385=)
c.7080T>G (p.Pro2360=)
c.6978T>G (p.Pro2326=)
c.6609T>G (p.Pro2203=)
dbSNP
5g.112843052T=CA1573470845APCc.7512T= (p.Pro2504=)
c.*7464T= (n.*7464T=)
c.7404T= (p.Pro2468=)
c.7458T= (p.Pro2486=)
c.231-13597T=
c.7488T= (p.Pro2496=)
c.7383T= (p.Pro2461=)
c.7374T= (p.Pro2458=)
c.7335T= (p.Pro2445=)
c.7281T= (p.Pro2427=)
c.7185T= (p.Pro2395=)
c.7155T= (p.Pro2385=)
c.7080T= (p.Pro2360=)
c.6978T= (p.Pro2326=)
c.6609T= (p.Pro2203=)
5g.112843053T>ACA16037560APCc.7513T>A (p.Ser2505Thr)
c.*7465T>A (n.*7465T>A)
c.7405T>A (p.Ser2469Thr)
c.7459T>A (p.Ser2487Thr)
c.231-13596T>A
c.7489T>A (p.Ser2497Thr)
c.7384T>A (p.Ser2462Thr)
c.7375T>A (p.Ser2459Thr)
c.7336T>A (p.Ser2446Thr)
c.7282T>A (p.Ser2428Thr)
c.7186T>A (p.Ser2396Thr)
c.7156T>A (p.Ser2386Thr)
c.7081T>A (p.Ser2361Thr)
c.6979T>A (p.Ser2327Thr)
c.6610T>A (p.Ser2204Thr)
5g.112843053T>CCA16037561APCc.7513T>C (p.Ser2505Pro)
c.*7465T>C (n.*7465T>C)
c.7405T>C (p.Ser2469Pro)
c.7459T>C (p.Ser2487Pro)
c.231-13596T>C
c.7489T>C (p.Ser2497Pro)
c.7384T>C (p.Ser2462Pro)
c.7375T>C (p.Ser2459Pro)
c.7336T>C (p.Ser2446Pro)
c.7282T>C (p.Ser2428Pro)
c.7186T>C (p.Ser2396Pro)
c.7156T>C (p.Ser2386Pro)
c.7081T>C (p.Ser2361Pro)
c.6979T>C (p.Ser2327Pro)
c.6610T>C (p.Ser2204Pro)
ClinVar dbSNP gnomAD v4
5g.112843053T>GCA16037562APCc.7513T>G (p.Ser2505Ala)
c.*7465T>G (n.*7465T>G)
c.7405T>G (p.Ser2469Ala)
c.7459T>G (p.Ser2487Ala)
c.231-13596T>G
c.7489T>G (p.Ser2497Ala)
c.7384T>G (p.Ser2462Ala)
c.7375T>G (p.Ser2459Ala)
c.7336T>G (p.Ser2446Ala)
c.7282T>G (p.Ser2428Ala)
c.7186T>G (p.Ser2396Ala)
c.7156T>G (p.Ser2386Ala)
c.7081T>G (p.Ser2361Ala)
c.6979T>G (p.Ser2327Ala)
c.6610T>G (p.Ser2204Ala)
5g.112843053T=CA1573470867APCc.7513T= (p.Ser2505=)
c.*7465T= (n.*7465T=)
c.7405T= (p.Ser2469=)
c.7459T= (p.Ser2487=)
c.231-13596T=
c.7489T= (p.Ser2497=)
c.7384T= (p.Ser2462=)
c.7375T= (p.Ser2459=)
c.7336T= (p.Ser2446=)
c.7282T= (p.Ser2428=)
c.7186T= (p.Ser2396=)
c.7156T= (p.Ser2386=)
c.7081T= (p.Ser2361=)
c.6979T= (p.Ser2327=)
c.6610T= (p.Ser2204=)
5g.112843054C>ACA16037563APCc.7514C>A (p.Ser2505Tyr)
c.*7466C>A (n.*7466C>A)
c.7406C>A (p.Ser2469Tyr)
c.7460C>A (p.Ser2487Tyr)
c.231-13595C>A
c.7490C>A (p.Ser2497Tyr)
c.7385C>A (p.Ser2462Tyr)
c.7376C>A (p.Ser2459Tyr)
c.7337C>A (p.Ser2446Tyr)
c.7283C>A (p.Ser2428Tyr)
c.7187C>A (p.Ser2396Tyr)
c.7157C>A (p.Ser2386Tyr)
c.7082C>A (p.Ser2361Tyr)
c.6980C>A (p.Ser2327Tyr)
c.6611C>A (p.Ser2204Tyr)
ClinVar dbSNP
5g.112843054C=CA1573470875APCc.7514C= (p.Ser2505=)
c.*7466C= (n.*7466C=)
c.7406C= (p.Ser2469=)
c.7460C= (p.Ser2487=)
c.231-13595C=
c.7490C= (p.Ser2497=)
c.7385C= (p.Ser2462=)
c.7376C= (p.Ser2459=)
c.7337C= (p.Ser2446=)
c.7283C= (p.Ser2428=)
c.7187C= (p.Ser2396=)
c.7157C= (p.Ser2386=)
c.7082C= (p.Ser2361=)
c.6980C= (p.Ser2327=)
c.6611C= (p.Ser2204=)
5g.112843054C>GCA16037564APCc.7514C>G (p.Ser2505Cys)
c.*7466C>G (n.*7466C>G)
c.7406C>G (p.Ser2469Cys)
c.7460C>G (p.Ser2487Cys)
c.231-13595C>G
c.7490C>G (p.Ser2497Cys)
c.7385C>G (p.Ser2462Cys)
c.7376C>G (p.Ser2459Cys)
c.7337C>G (p.Ser2446Cys)
c.7283C>G (p.Ser2428Cys)
c.7187C>G (p.Ser2396Cys)
c.7157C>G (p.Ser2386Cys)
c.7082C>G (p.Ser2361Cys)
c.6980C>G (p.Ser2327Cys)
c.6611C>G (p.Ser2204Cys)
5g.112843054C>TCA048129APCc.7514C>T (p.Ser2505Phe)
c.*7466C>T (n.*7466C>T)
c.7406C>T (p.Ser2469Phe)
c.7460C>T (p.Ser2487Phe)
c.231-13595C>T
c.7490C>T (p.Ser2497Phe)
c.7385C>T (p.Ser2462Phe)
c.7376C>T (p.Ser2459Phe)
c.7337C>T (p.Ser2446Phe)
c.7283C>T (p.Ser2428Phe)
c.7187C>T (p.Ser2396Phe)
c.7157C>T (p.Ser2386Phe)
c.7082C>T (p.Ser2361Phe)
c.6980C>T (p.Ser2327Phe)
c.6611C>T (p.Ser2204Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843055C>ACA446210750APCc.7515C>A (p.Ser2505=)
c.*7467C>A (n.*7467C>A)
c.7407C>A (p.Ser2469=)
c.7461C>A (p.Ser2487=)
c.231-13594C>A
c.7491C>A (p.Ser2497=)
c.7386C>A (p.Ser2462=)
c.7377C>A (p.Ser2459=)
c.7338C>A (p.Ser2446=)
c.7284C>A (p.Ser2428=)
c.7188C>A (p.Ser2396=)
c.7158C>A (p.Ser2386=)
c.7083C>A (p.Ser2361=)
c.6981C>A (p.Ser2327=)
c.6612C>A (p.Ser2204=)
ClinVar dbSNP
5g.112843055C=CA1573470883APCc.7515C= (p.Ser2505=)
c.*7467C= (n.*7467C=)
c.7407C= (p.Ser2469=)
c.7461C= (p.Ser2487=)
c.231-13594C=
c.7491C= (p.Ser2497=)
c.7386C= (p.Ser2462=)
c.7377C= (p.Ser2459=)
c.7338C= (p.Ser2446=)
c.7284C= (p.Ser2428=)
c.7188C= (p.Ser2396=)
c.7158C= (p.Ser2386=)
c.7083C= (p.Ser2361=)
c.6981C= (p.Ser2327=)
c.6612C= (p.Ser2204=)
5g.112843055C>GCA446210751APCc.7515C>G (p.Ser2505=)
c.*7467C>G (n.*7467C>G)
c.7407C>G (p.Ser2469=)
c.7461C>G (p.Ser2487=)
c.231-13594C>G
c.7491C>G (p.Ser2497=)
c.7386C>G (p.Ser2462=)
c.7377C>G (p.Ser2459=)
c.7338C>G (p.Ser2446=)
c.7284C>G (p.Ser2428=)
c.7188C>G (p.Ser2396=)
c.7158C>G (p.Ser2386=)
c.7083C>G (p.Ser2361=)
c.6981C>G (p.Ser2327=)
c.6612C>G (p.Ser2204=)
ClinVar dbSNP gnomAD v4
5g.112843055C>TCA446210752APCc.7515C>T (p.Ser2505=)
c.*7467C>T (n.*7467C>T)
c.7407C>T (p.Ser2469=)
c.7461C>T (p.Ser2487=)
c.231-13594C>T
c.7491C>T (p.Ser2497=)
c.7386C>T (p.Ser2462=)
c.7377C>T (p.Ser2459=)
c.7338C>T (p.Ser2446=)
c.7284C>T (p.Ser2428=)
c.7188C>T (p.Ser2396=)
c.7158C>T (p.Ser2386=)
c.7083C>T (p.Ser2361=)
c.6981C>T (p.Ser2327=)
c.6612C>T (p.Ser2204=)
ClinVar gnomAD v4
5g.112843056C>ACA16037565APCc.7516C>A (p.Leu2506Ile)
c.*7468C>A (n.*7468C>A)
c.7408C>A (p.Leu2470Ile)
c.7462C>A (p.Leu2488Ile)
c.231-13593C>A
c.7492C>A (p.Leu2498Ile)
c.7387C>A (p.Leu2463Ile)
c.7378C>A (p.Leu2460Ile)
c.7339C>A (p.Leu2447Ile)
c.7285C>A (p.Leu2429Ile)
c.7189C>A (p.Leu2397Ile)
c.7159C>A (p.Leu2387Ile)
c.7084C>A (p.Leu2362Ile)
c.6982C>A (p.Leu2328Ile)
c.6613C>A (p.Leu2205Ile)
5g.112843056C=CA1573470920APCc.7516C= (p.Leu2506=)
c.*7468C= (n.*7468C=)
c.7408C= (p.Leu2470=)
c.7462C= (p.Leu2488=)
c.231-13593C=
c.7492C= (p.Leu2498=)
c.7387C= (p.Leu2463=)
c.7378C= (p.Leu2460=)
c.7339C= (p.Leu2447=)
c.7285C= (p.Leu2429=)
c.7189C= (p.Leu2397=)
c.7159C= (p.Leu2387=)
c.7084C= (p.Leu2362=)
c.6982C= (p.Leu2328=)
c.6613C= (p.Leu2205=)
5g.112843056C>GCA16037566APCc.7516C>G (p.Leu2506Val)
c.*7468C>G (n.*7468C>G)
c.7408C>G (p.Leu2470Val)
c.7462C>G (p.Leu2488Val)
c.231-13593C>G
c.7492C>G (p.Leu2498Val)
c.7387C>G (p.Leu2463Val)
c.7378C>G (p.Leu2460Val)
c.7339C>G (p.Leu2447Val)
c.7285C>G (p.Leu2429Val)
c.7189C>G (p.Leu2397Val)
c.7159C>G (p.Leu2387Val)
c.7084C>G (p.Leu2362Val)
c.6982C>G (p.Leu2328Val)
c.6613C>G (p.Leu2205Val)
ClinVar dbSNP
5g.112843056C>TCA16037567APCc.7516C>T (p.Leu2506Phe)
c.*7468C>T (n.*7468C>T)
c.7408C>T (p.Leu2470Phe)
c.7462C>T (p.Leu2488Phe)
c.231-13593C>T
c.7492C>T (p.Leu2498Phe)
c.7387C>T (p.Leu2463Phe)
c.7378C>T (p.Leu2460Phe)
c.7339C>T (p.Leu2447Phe)
c.7285C>T (p.Leu2429Phe)
c.7189C>T (p.Leu2397Phe)
c.7159C>T (p.Leu2387Phe)
c.7084C>T (p.Leu2362Phe)
c.6982C>T (p.Leu2328Phe)
c.6613C>T (p.Leu2205Phe)
ClinVar dbSNP
5g.112843057T>ACA16037568APCc.7517T>A (p.Leu2506His)
c.*7469T>A (n.*7469T>A)
c.7409T>A (p.Leu2470His)
c.7463T>A (p.Leu2488His)
c.231-13592T>A
c.7493T>A (p.Leu2498His)
c.7388T>A (p.Leu2463His)
c.7379T>A (p.Leu2460His)
c.7340T>A (p.Leu2447His)
c.7286T>A (p.Leu2429His)
c.7190T>A (p.Leu2397His)
c.7160T>A (p.Leu2387His)
c.7085T>A (p.Leu2362His)
c.6983T>A (p.Leu2328His)
c.6614T>A (p.Leu2205His)
dbSNP
5g.112843057T>CCA16037569APCc.7517T>C (p.Leu2506Pro)
c.*7469T>C (n.*7469T>C)
c.7409T>C (p.Leu2470Pro)
c.7463T>C (p.Leu2488Pro)
c.231-13592T>C
c.7493T>C (p.Leu2498Pro)
c.7388T>C (p.Leu2463Pro)
c.7379T>C (p.Leu2460Pro)
c.7340T>C (p.Leu2447Pro)
c.7286T>C (p.Leu2429Pro)
c.7190T>C (p.Leu2397Pro)
c.7160T>C (p.Leu2387Pro)
c.7085T>C (p.Leu2362Pro)
c.6983T>C (p.Leu2328Pro)
c.6614T>C (p.Leu2205Pro)
dbSNP
5g.112843057T>GCA16037570APCc.7517T>G (p.Leu2506Arg)
c.*7469T>G (n.*7469T>G)
c.7409T>G (p.Leu2470Arg)
c.7463T>G (p.Leu2488Arg)
c.231-13592T>G
c.7493T>G (p.Leu2498Arg)
c.7388T>G (p.Leu2463Arg)
c.7379T>G (p.Leu2460Arg)
c.7340T>G (p.Leu2447Arg)
c.7286T>G (p.Leu2429Arg)
c.7190T>G (p.Leu2397Arg)
c.7160T>G (p.Leu2387Arg)
c.7085T>G (p.Leu2362Arg)
c.6983T>G (p.Leu2328Arg)
c.6614T>G (p.Leu2205Arg)
ClinVar dbSNP gnomAD v4
5g.112843057T=CA1573470947APCc.7517T= (p.Leu2506=)
c.*7469T= (n.*7469T=)
c.7409T= (p.Leu2470=)
c.7463T= (p.Leu2488=)
c.231-13592T=
c.7493T= (p.Leu2498=)
c.7388T= (p.Leu2463=)
c.7379T= (p.Leu2460=)
c.7340T= (p.Leu2447=)
c.7286T= (p.Leu2429=)
c.7190T= (p.Leu2397=)
c.7160T= (p.Leu2387=)
c.7085T= (p.Leu2362=)
c.6983T= (p.Leu2328=)
c.6614T= (p.Leu2205=)
5g.112843058T>ACA446210756APCc.7518T>A (p.Leu2506=)
c.*7470T>A (n.*7470T>A)
c.7410T>A (p.Leu2470=)
c.7464T>A (p.Leu2488=)
c.231-13591T>A
c.7494T>A (p.Leu2498=)
c.7389T>A (p.Leu2463=)
c.7380T>A (p.Leu2460=)
c.7341T>A (p.Leu2447=)
c.7287T>A (p.Leu2429=)
c.7191T>A (p.Leu2397=)
c.7161T>A (p.Leu2387=)
c.7086T>A (p.Leu2362=)
c.6984T>A (p.Leu2328=)
c.6615T>A (p.Leu2205=)
5g.112843058T>CCA446210757APCc.7518T>C (p.Leu2506=)
c.*7470T>C (n.*7470T>C)
c.7410T>C (p.Leu2470=)
c.7464T>C (p.Leu2488=)
c.231-13591T>C
c.7494T>C (p.Leu2498=)
c.7389T>C (p.Leu2463=)
c.7380T>C (p.Leu2460=)
c.7341T>C (p.Leu2447=)
c.7287T>C (p.Leu2429=)
c.7191T>C (p.Leu2397=)
c.7161T>C (p.Leu2387=)
c.7086T>C (p.Leu2362=)
c.6984T>C (p.Leu2328=)
c.6615T>C (p.Leu2205=)
5g.112843058T>GCA446210759APCc.7518T>G (p.Leu2506=)
c.*7470T>G (n.*7470T>G)
c.7410T>G (p.Leu2470=)
c.7464T>G (p.Leu2488=)
c.231-13591T>G
c.7494T>G (p.Leu2498=)
c.7389T>G (p.Leu2463=)
c.7380T>G (p.Leu2460=)
c.7341T>G (p.Leu2447=)
c.7287T>G (p.Leu2429=)
c.7191T>G (p.Leu2397=)
c.7161T>G (p.Leu2387=)
c.7086T>G (p.Leu2362=)
c.6984T>G (p.Leu2328=)
c.6615T>G (p.Leu2205=)
5g.112843059C>ACA16037571APCc.7519C>A (p.Pro2507Thr)
c.*7471C>A (n.*7471C>A)
c.7411C>A (p.Pro2471Thr)
c.7465C>A (p.Pro2489Thr)
c.231-13590C>A
c.7495C>A (p.Pro2499Thr)
c.7390C>A (p.Pro2464Thr)
c.7381C>A (p.Pro2461Thr)
c.7342C>A (p.Pro2448Thr)
c.7288C>A (p.Pro2430Thr)
c.7192C>A (p.Pro2398Thr)
c.7162C>A (p.Pro2388Thr)
c.7087C>A (p.Pro2363Thr)
c.6985C>A (p.Pro2329Thr)
c.6616C>A (p.Pro2206Thr)
ClinVar dbSNP
5g.112843059C=CA1573470954APCc.7519C= (p.Pro2507=)
c.*7471C= (n.*7471C=)
c.7411C= (p.Pro2471=)
c.7465C= (p.Pro2489=)
c.231-13590C=
c.7495C= (p.Pro2499=)
c.7390C= (p.Pro2464=)
c.7381C= (p.Pro2461=)
c.7342C= (p.Pro2448=)
c.7288C= (p.Pro2430=)
c.7192C= (p.Pro2398=)
c.7162C= (p.Pro2388=)
c.7087C= (p.Pro2363=)
c.6985C= (p.Pro2329=)
c.6616C= (p.Pro2206=)
5g.112843059C>GCA16037572APCc.7519C>G (p.Pro2507Ala)
c.*7471C>G (n.*7471C>G)
c.7411C>G (p.Pro2471Ala)
c.7465C>G (p.Pro2489Ala)
c.231-13590C>G
c.7495C>G (p.Pro2499Ala)
c.7390C>G (p.Pro2464Ala)
c.7381C>G (p.Pro2461Ala)
c.7342C>G (p.Pro2448Ala)
c.7288C>G (p.Pro2430Ala)
c.7192C>G (p.Pro2398Ala)
c.7162C>G (p.Pro2388Ala)
c.7087C>G (p.Pro2363Ala)
c.6985C>G (p.Pro2329Ala)
c.6616C>G (p.Pro2206Ala)
ClinVar dbSNP
5g.112843059C>TCA16037573APCc.7519C>T (p.Pro2507Ser)
c.*7471C>T (n.*7471C>T)
c.7411C>T (p.Pro2471Ser)
c.7465C>T (p.Pro2489Ser)
c.231-13590C>T
c.7495C>T (p.Pro2499Ser)
c.7390C>T (p.Pro2464Ser)
c.7381C>T (p.Pro2461Ser)
c.7342C>T (p.Pro2448Ser)
c.7288C>T (p.Pro2430Ser)
c.7192C>T (p.Pro2398Ser)
c.7162C>T (p.Pro2388Ser)
c.7087C>T (p.Pro2363Ser)
c.6985C>T (p.Pro2329Ser)
c.6616C>T (p.Pro2206Ser)
ClinVar dbSNP gnomAD v4
5g.112843060delCA2573130320APCc.7520del (p.Pro2507LeufsTer27)
c.*7472del (n.*7472del)
c.7412del (p.Pro2471LeufsTer27)
c.7466del (p.Pro2489LeufsTer27)
c.231-13589del
c.7496del (p.Pro2499LeufsTer27)
c.7391del (p.Pro2464LeufsTer27)
c.7382del (p.Pro2461LeufsTer27)
c.7343del (p.Pro2448LeufsTer27)
c.7289del (p.Pro2430LeufsTer27)
c.7193del (p.Pro2398LeufsTer27)
c.7163del (p.Pro2388LeufsTer27)
c.7088del (p.Pro2363LeufsTer27)
c.6986del (p.Pro2329LeufsTer27)
c.6617del (p.Pro2206LeufsTer27)
5g.112843060C>ACA16037574APCc.7520C>A (p.Pro2507His)
c.*7472C>A (n.*7472C>A)
c.7412C>A (p.Pro2471His)
c.7466C>A (p.Pro2489His)
c.231-13589C>A
c.7496C>A (p.Pro2499His)
c.7391C>A (p.Pro2464His)
c.7382C>A (p.Pro2461His)
c.7343C>A (p.Pro2448His)
c.7289C>A (p.Pro2430His)
c.7193C>A (p.Pro2398His)
c.7163C>A (p.Pro2388His)
c.7088C>A (p.Pro2363His)
c.6986C>A (p.Pro2329His)
c.6617C>A (p.Pro2206His)
dbSNP
5g.112843060C=CA1573470968APCc.7520C= (p.Pro2507=)
c.*7472C= (n.*7472C=)
c.7412C= (p.Pro2471=)
c.7466C= (p.Pro2489=)
c.231-13589C=
c.7496C= (p.Pro2499=)
c.7391C= (p.Pro2464=)
c.7382C= (p.Pro2461=)
c.7343C= (p.Pro2448=)
c.7289C= (p.Pro2430=)
c.7193C= (p.Pro2398=)
c.7163C= (p.Pro2388=)
c.7088C= (p.Pro2363=)
c.6986C= (p.Pro2329=)
c.6617C= (p.Pro2206=)
5g.112843060C>GCA16037575APCc.7520C>G (p.Pro2507Arg)
c.*7472C>G (n.*7472C>G)
c.7412C>G (p.Pro2471Arg)
c.7466C>G (p.Pro2489Arg)
c.231-13589C>G
c.7496C>G (p.Pro2499Arg)
c.7391C>G (p.Pro2464Arg)
c.7382C>G (p.Pro2461Arg)
c.7343C>G (p.Pro2448Arg)
c.7289C>G (p.Pro2430Arg)
c.7193C>G (p.Pro2398Arg)
c.7163C>G (p.Pro2388Arg)
c.7088C>G (p.Pro2363Arg)
c.6986C>G (p.Pro2329Arg)
c.6617C>G (p.Pro2206Arg)
ClinVar dbSNP gnomAD v4
5g.112843060C>TCA16037576APCc.7520C>T (p.Pro2507Leu)
c.*7472C>T (n.*7472C>T)
c.7412C>T (p.Pro2471Leu)
c.7466C>T (p.Pro2489Leu)
c.231-13589C>T
c.7496C>T (p.Pro2499Leu)
c.7391C>T (p.Pro2464Leu)
c.7382C>T (p.Pro2461Leu)
c.7343C>T (p.Pro2448Leu)
c.7289C>T (p.Pro2430Leu)
c.7193C>T (p.Pro2398Leu)
c.7163C>T (p.Pro2388Leu)
c.7088C>T (p.Pro2363Leu)
c.6986C>T (p.Pro2329Leu)
c.6617C>T (p.Pro2206Leu)
dbSNP
5g.112843061T>ACA446210769APCc.7521T>A (p.Pro2507=)
c.*7473T>A (n.*7473T>A)
c.7413T>A (p.Pro2471=)
c.7467T>A (p.Pro2489=)
c.231-13588T>A
c.7497T>A (p.Pro2499=)
c.7392T>A (p.Pro2464=)
c.7383T>A (p.Pro2461=)
c.7344T>A (p.Pro2448=)
c.7290T>A (p.Pro2430=)
c.7194T>A (p.Pro2398=)
c.7164T>A (p.Pro2388=)
c.7089T>A (p.Pro2363=)
c.6987T>A (p.Pro2329=)
c.6618T>A (p.Pro2206=)
dbSNP
5g.112843061T>CCA446210770APCc.7521T>C (p.Pro2507=)
c.*7473T>C (n.*7473T>C)
c.7413T>C (p.Pro2471=)
c.7467T>C (p.Pro2489=)
c.231-13588T>C
c.7497T>C (p.Pro2499=)
c.7392T>C (p.Pro2464=)
c.7383T>C (p.Pro2461=)
c.7344T>C (p.Pro2448=)
c.7290T>C (p.Pro2430=)
c.7194T>C (p.Pro2398=)
c.7164T>C (p.Pro2388=)
c.7089T>C (p.Pro2363=)
c.6987T>C (p.Pro2329=)
c.6618T>C (p.Pro2206=)
dbSNP
5g.112843061T>GCA446210771APCc.7521T>G (p.Pro2507=)
c.*7473T>G (n.*7473T>G)
c.7413T>G (p.Pro2471=)
c.7467T>G (p.Pro2489=)
c.231-13588T>G
c.7497T>G (p.Pro2499=)
c.7392T>G (p.Pro2464=)
c.7383T>G (p.Pro2461=)
c.7344T>G (p.Pro2448=)
c.7290T>G (p.Pro2430=)
c.7194T>G (p.Pro2398=)
c.7164T>G (p.Pro2388=)
c.7089T>G (p.Pro2363=)
c.6987T>G (p.Pro2329=)
c.6618T>G (p.Pro2206=)
5g.112843061_112843062dupCA645509165APCc.7521_7522dup (p.Asp2508ValfsTer27)
c.*7473_*7474dup (n.*7473_*7474dup)
c.7413_7414dup (p.Asp2472ValfsTer27)
c.7467_7468dup (p.Asp2490ValfsTer27)
c.231-13588_231-13587dup
c.7497_7498dup (p.Asp2500ValfsTer27)
c.7392_7393dup (p.Asp2465ValfsTer27)
c.7383_7384dup (p.Asp2462ValfsTer27)
c.7344_7345dup (p.Asp2449ValfsTer27)
c.7290_7291dup (p.Asp2431ValfsTer27)
c.7194_7195dup (p.Asp2399ValfsTer27)
c.7164_7165dup (p.Asp2389ValfsTer27)
c.7089_7090dup (p.Asp2364ValfsTer27)
c.6987_6988dup (p.Asp2330ValfsTer27)
c.6618_6619dup (p.Asp2207ValfsTer27)
ClinVar dbSNP
5g.112843062G>ACA013697APCc.7522G>A (p.Asp2508Asn)
c.*7474G>A (n.*7474G>A)
c.7414G>A (p.Asp2472Asn)
c.7468G>A (p.Asp2490Asn)
c.231-13587G>A
c.7498G>A (p.Asp2500Asn)
c.7393G>A (p.Asp2465Asn)
c.7384G>A (p.Asp2462Asn)
c.7345G>A (p.Asp2449Asn)
c.7291G>A (p.Asp2431Asn)
c.7195G>A (p.Asp2399Asn)
c.7165G>A (p.Asp2389Asn)
c.7090G>A (p.Asp2364Asn)
c.6988G>A (p.Asp2330Asn)
c.6619G>A (p.Asp2207Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843062G>CCA16037577APCc.7522G>C (p.Asp2508His)
c.*7474G>C (n.*7474G>C)
c.7414G>C (p.Asp2472His)
c.7468G>C (p.Asp2490His)
c.231-13587G>C
c.7498G>C (p.Asp2500His)
c.7393G>C (p.Asp2465His)
c.7384G>C (p.Asp2462His)
c.7345G>C (p.Asp2449His)
c.7291G>C (p.Asp2431His)
c.7195G>C (p.Asp2399His)
c.7165G>C (p.Asp2389His)
c.7090G>C (p.Asp2364His)
c.6988G>C (p.Asp2330His)
c.6619G>C (p.Asp2207His)
5g.112843062G=CA1573471001APCc.7522G= (p.Asp2508=)
c.*7474G= (n.*7474G=)
c.7414G= (p.Asp2472=)
c.7468G= (p.Asp2490=)
c.231-13587G=
c.7498G= (p.Asp2500=)
c.7393G= (p.Asp2465=)
c.7384G= (p.Asp2462=)
c.7345G= (p.Asp2449=)
c.7291G= (p.Asp2431=)
c.7195G= (p.Asp2399=)
c.7165G= (p.Asp2389=)
c.7090G= (p.Asp2364=)
c.6988G= (p.Asp2330=)
c.6619G= (p.Asp2207=)
5g.112843062G>TCA16037578APCc.7522G>T (p.Asp2508Tyr)
c.*7474G>T (n.*7474G>T)
c.7414G>T (p.Asp2472Tyr)
c.7468G>T (p.Asp2490Tyr)
c.231-13587G>T
c.7498G>T (p.Asp2500Tyr)
c.7393G>T (p.Asp2465Tyr)
c.7384G>T (p.Asp2462Tyr)
c.7345G>T (p.Asp2449Tyr)
c.7291G>T (p.Asp2431Tyr)
c.7195G>T (p.Asp2399Tyr)
c.7165G>T (p.Asp2389Tyr)
c.7090G>T (p.Asp2364Tyr)
c.6988G>T (p.Asp2330Tyr)
c.6619G>T (p.Asp2207Tyr)
5g.112843063A=CA1573471021APCc.7523A= (p.Asp2508=)
c.*7475A= (n.*7475A=)
c.7415A= (p.Asp2472=)
c.7469A= (p.Asp2490=)
c.231-13586A=
c.7499A= (p.Asp2500=)
c.7394A= (p.Asp2465=)
c.7385A= (p.Asp2462=)
c.7346A= (p.Asp2449=)
c.7292A= (p.Asp2431=)
c.7196A= (p.Asp2399=)
c.7166A= (p.Asp2389=)
c.7091A= (p.Asp2364=)
c.6989A= (p.Asp2330=)
c.6620A= (p.Asp2207=)
5g.112843063A>CCA16037579APCc.7523A>C (p.Asp2508Ala)
c.*7475A>C (n.*7475A>C)
c.7415A>C (p.Asp2472Ala)
c.7469A>C (p.Asp2490Ala)
c.231-13586A>C
c.7499A>C (p.Asp2500Ala)
c.7394A>C (p.Asp2465Ala)
c.7385A>C (p.Asp2462Ala)
c.7346A>C (p.Asp2449Ala)
c.7292A>C (p.Asp2431Ala)
c.7196A>C (p.Asp2399Ala)
c.7166A>C (p.Asp2389Ala)
c.7091A>C (p.Asp2364Ala)
c.6989A>C (p.Asp2330Ala)
c.6620A>C (p.Asp2207Ala)
dbSNP
5g.112843063A>GCA16037580APCc.7523A>G (p.Asp2508Gly)
c.*7475A>G (n.*7475A>G)
c.7415A>G (p.Asp2472Gly)
c.7469A>G (p.Asp2490Gly)
c.231-13586A>G
c.7499A>G (p.Asp2500Gly)
c.7394A>G (p.Asp2465Gly)
c.7385A>G (p.Asp2462Gly)
c.7346A>G (p.Asp2449Gly)
c.7292A>G (p.Asp2431Gly)
c.7196A>G (p.Asp2399Gly)
c.7166A>G (p.Asp2389Gly)
c.7091A>G (p.Asp2364Gly)
c.6989A>G (p.Asp2330Gly)
c.6620A>G (p.Asp2207Gly)
ClinVar dbSNP gnomAD v4
5g.112843063A>TCA048153APCc.7523A>T (p.Asp2508Val)
c.*7475A>T (n.*7475A>T)
c.7415A>T (p.Asp2472Val)
c.7469A>T (p.Asp2490Val)
c.231-13586A>T
c.7499A>T (p.Asp2500Val)
c.7394A>T (p.Asp2465Val)
c.7385A>T (p.Asp2462Val)
c.7346A>T (p.Asp2449Val)
c.7292A>T (p.Asp2431Val)
c.7196A>T (p.Asp2399Val)
c.7166A>T (p.Asp2389Val)
c.7091A>T (p.Asp2364Val)
c.6989A>T (p.Asp2330Val)
c.6620A>T (p.Asp2207Val)
ClinVar dbSNP ExAC gnomAD v2
5g.112843064T>ACA16037581APCc.7524T>A (p.Asp2508Glu)
c.*7476T>A (n.*7476T>A)
c.7416T>A (p.Asp2472Glu)
c.7470T>A (p.Asp2490Glu)
c.231-13585T>A
c.7500T>A (p.Asp2500Glu)
c.7395T>A (p.Asp2465Glu)
c.7386T>A (p.Asp2462Glu)
c.7347T>A (p.Asp2449Glu)
c.7293T>A (p.Asp2431Glu)
c.7197T>A (p.Asp2399Glu)
c.7167T>A (p.Asp2389Glu)
c.7092T>A (p.Asp2364Glu)
c.6990T>A (p.Asp2330Glu)
c.6621T>A (p.Asp2207Glu)
dbSNP
5g.112843064T>CCA446210776APCc.7524T>C (p.Asp2508=)
c.*7476T>C (n.*7476T>C)
c.7416T>C (p.Asp2472=)
c.7470T>C (p.Asp2490=)
c.231-13585T>C
c.7500T>C (p.Asp2500=)
c.7395T>C (p.Asp2465=)
c.7386T>C (p.Asp2462=)
c.7347T>C (p.Asp2449=)
c.7293T>C (p.Asp2431=)
c.7197T>C (p.Asp2399=)
c.7167T>C (p.Asp2389=)
c.7092T>C (p.Asp2364=)
c.6990T>C (p.Asp2330=)
c.6621T>C (p.Asp2207=)
ClinVar dbSNP
5g.112843064T>GCA16037582APCc.7524T>G (p.Asp2508Glu)
c.*7476T>G (n.*7476T>G)
c.7416T>G (p.Asp2472Glu)
c.7470T>G (p.Asp2490Glu)
c.231-13585T>G
c.7500T>G (p.Asp2500Glu)
c.7395T>G (p.Asp2465Glu)
c.7386T>G (p.Asp2462Glu)
c.7347T>G (p.Asp2449Glu)
c.7293T>G (p.Asp2431Glu)
c.7197T>G (p.Asp2399Glu)
c.7167T>G (p.Asp2389Glu)
c.7092T>G (p.Asp2364Glu)
c.6990T>G (p.Asp2330Glu)
c.6621T>G (p.Asp2207Glu)
5g.112843064T=CA1573471037APCc.7524T= (p.Asp2508=)
c.*7476T= (n.*7476T=)
c.7416T= (p.Asp2472=)
c.7470T= (p.Asp2490=)
c.231-13585T=
c.7500T= (p.Asp2500=)
c.7395T= (p.Asp2465=)
c.7386T= (p.Asp2462=)
c.7347T= (p.Asp2449=)
c.7293T= (p.Asp2431=)
c.7197T= (p.Asp2399=)
c.7167T= (p.Asp2389=)
c.7092T= (p.Asp2364=)
c.6990T= (p.Asp2330=)
c.6621T= (p.Asp2207=)
5g.112843065A=CA1573471048APCc.7525A= (p.Met2509=)
c.*7477A= (n.*7477A=)
c.7417A= (p.Met2473=)
c.7471A= (p.Met2491=)
c.231-13584A=
c.7501A= (p.Met2501=)
c.7396A= (p.Met2466=)
c.7387A= (p.Met2463=)
c.7348A= (p.Met2450=)
c.7294A= (p.Met2432=)
c.7198A= (p.Met2400=)
c.7168A= (p.Met2390=)
c.7093A= (p.Met2365=)
c.6991A= (p.Met2331=)
c.6622A= (p.Met2208=)
5g.112843065A>CCA16037583APCc.7525A>C (p.Met2509Leu)
c.*7477A>C (n.*7477A>C)
c.7417A>C (p.Met2473Leu)
c.7471A>C (p.Met2491Leu)
c.231-13584A>C
c.7501A>C (p.Met2501Leu)
c.7396A>C (p.Met2466Leu)
c.7387A>C (p.Met2463Leu)
c.7348A>C (p.Met2450Leu)
c.7294A>C (p.Met2432Leu)
c.7198A>C (p.Met2400Leu)
c.7168A>C (p.Met2390Leu)
c.7093A>C (p.Met2365Leu)
c.6991A>C (p.Met2331Leu)
c.6622A>C (p.Met2208Leu)
dbSNP
5g.112843065A>GCA048161APCc.7525A>G (p.Met2509Val)
c.*7477A>G (n.*7477A>G)
c.7417A>G (p.Met2473Val)
c.7471A>G (p.Met2491Val)
c.231-13584A>G
c.7501A>G (p.Met2501Val)
c.7396A>G (p.Met2466Val)
c.7387A>G (p.Met2463Val)
c.7348A>G (p.Met2450Val)
c.7294A>G (p.Met2432Val)
c.7198A>G (p.Met2400Val)
c.7168A>G (p.Met2390Val)
c.7093A>G (p.Met2365Val)
c.6991A>G (p.Met2331Val)
c.6622A>G (p.Met2208Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843065A>TCA16037584APCc.7525A>T (p.Met2509Leu)
c.*7477A>T (n.*7477A>T)
c.7417A>T (p.Met2473Leu)
c.7471A>T (p.Met2491Leu)
c.231-13584A>T
c.7501A>T (p.Met2501Leu)
c.7396A>T (p.Met2466Leu)
c.7387A>T (p.Met2463Leu)
c.7348A>T (p.Met2450Leu)
c.7294A>T (p.Met2432Leu)
c.7198A>T (p.Met2400Leu)
c.7168A>T (p.Met2390Leu)
c.7093A>T (p.Met2365Leu)
c.6991A>T (p.Met2331Leu)
c.6622A>T (p.Met2208Leu)
dbSNP
5g.112843066delCA2582341626APCc.7526del (p.Met2509SerfsTer25)
c.*7478del (n.*7478del)
c.7418del (p.Met2473SerfsTer25)
c.7472del (p.Met2491SerfsTer25)
c.231-13583del
c.7502del (p.Met2501SerfsTer25)
c.7397del (p.Met2466SerfsTer25)
c.7388del (p.Met2463SerfsTer25)
c.7349del (p.Met2450SerfsTer25)
c.7295del (p.Met2432SerfsTer25)
c.7199del (p.Met2400SerfsTer25)
c.7169del (p.Met2390SerfsTer25)
c.7094del (p.Met2365SerfsTer25)
c.6992del (p.Met2331SerfsTer25)
c.6623del (p.Met2208SerfsTer25)
ClinVar
5g.112843066T>ACA16037585APCc.7526T>A (p.Met2509Lys)
c.*7478T>A (n.*7478T>A)
c.7418T>A (p.Met2473Lys)
c.7472T>A (p.Met2491Lys)
c.231-13583T>A
c.7502T>A (p.Met2501Lys)
c.7397T>A (p.Met2466Lys)
c.7388T>A (p.Met2463Lys)
c.7349T>A (p.Met2450Lys)
c.7295T>A (p.Met2432Lys)
c.7199T>A (p.Met2400Lys)
c.7169T>A (p.Met2390Lys)
c.7094T>A (p.Met2365Lys)
c.6992T>A (p.Met2331Lys)
c.6623T>A (p.Met2208Lys)
ClinVar dbSNP
5g.112843066T>CCA013705APCc.7526T>C (p.Met2509Thr)
c.*7478T>C (n.*7478T>C)
c.7418T>C (p.Met2473Thr)
c.7472T>C (p.Met2491Thr)
c.231-13583T>C
c.7502T>C (p.Met2501Thr)
c.7397T>C (p.Met2466Thr)
c.7388T>C (p.Met2463Thr)
c.7349T>C (p.Met2450Thr)
c.7295T>C (p.Met2432Thr)
c.7199T>C (p.Met2400Thr)
c.7169T>C (p.Met2390Thr)
c.7094T>C (p.Met2365Thr)
c.6992T>C (p.Met2331Thr)
c.6623T>C (p.Met2208Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843066T>GCA16037586APCc.7526T>G (p.Met2509Arg)
c.*7478T>G (n.*7478T>G)
c.7418T>G (p.Met2473Arg)
c.7472T>G (p.Met2491Arg)
c.231-13583T>G
c.7502T>G (p.Met2501Arg)
c.7397T>G (p.Met2466Arg)
c.7388T>G (p.Met2463Arg)
c.7349T>G (p.Met2450Arg)
c.7295T>G (p.Met2432Arg)
c.7199T>G (p.Met2400Arg)
c.7169T>G (p.Met2390Arg)
c.7094T>G (p.Met2365Arg)
c.6992T>G (p.Met2331Arg)
c.6623T>G (p.Met2208Arg)
ClinVar dbSNP
5g.112843066T=CA1573471078APCc.7526T= (p.Met2509=)
c.*7478T= (n.*7478T=)
c.7418T= (p.Met2473=)
c.7472T= (p.Met2491=)
c.231-13583T=
c.7502T= (p.Met2501=)
c.7397T= (p.Met2466=)
c.7388T= (p.Met2463=)
c.7349T= (p.Met2450=)
c.7295T= (p.Met2432=)
c.7199T= (p.Met2400=)
c.7169T= (p.Met2390=)
c.7094T= (p.Met2365=)
c.6992T= (p.Met2331=)
c.6623T= (p.Met2208=)
5g.112843067G>ACA16037587APCc.7527G>A (p.Met2509Ile)
c.*7479G>A (n.*7479G>A)
c.7419G>A (p.Met2473Ile)
c.7473G>A (p.Met2491Ile)
c.231-13582G>A
c.7503G>A (p.Met2501Ile)
c.7398G>A (p.Met2466Ile)
c.7389G>A (p.Met2463Ile)
c.7350G>A (p.Met2450Ile)
c.7296G>A (p.Met2432Ile)
c.7200G>A (p.Met2400Ile)
c.7170G>A (p.Met2390Ile)
c.7095G>A (p.Met2365Ile)
c.6993G>A (p.Met2331Ile)
c.6624G>A (p.Met2208Ile)
ClinVar dbSNP gnomAD v4
5g.112843067G>CCA16037588APCc.7527G>C (p.Met2509Ile)
c.*7479G>C (n.*7479G>C)
c.7419G>C (p.Met2473Ile)
c.7473G>C (p.Met2491Ile)
c.231-13582G>C
c.7503G>C (p.Met2501Ile)
c.7398G>C (p.Met2466Ile)
c.7389G>C (p.Met2463Ile)
c.7350G>C (p.Met2450Ile)
c.7296G>C (p.Met2432Ile)
c.7200G>C (p.Met2400Ile)
c.7170G>C (p.Met2390Ile)
c.7095G>C (p.Met2365Ile)
c.6993G>C (p.Met2331Ile)
c.6624G>C (p.Met2208Ile)
5g.112843067G=CA1573471089APCc.7527G= (p.Met2509=)
c.*7479G= (n.*7479G=)
c.7419G= (p.Met2473=)
c.7473G= (p.Met2491=)
c.231-13582G=
c.7503G= (p.Met2501=)
c.7398G= (p.Met2466=)
c.7389G= (p.Met2463=)
c.7350G= (p.Met2450=)
c.7296G= (p.Met2432=)
c.7200G= (p.Met2400=)
c.7170G= (p.Met2390=)
c.7095G= (p.Met2365=)
c.6993G= (p.Met2331=)
c.6624G= (p.Met2208=)
5g.112843067G>TCA16037589APCc.7527G>T (p.Met2509Ile)
c.*7479G>T (n.*7479G>T)
c.7419G>T (p.Met2473Ile)
c.7473G>T (p.Met2491Ile)
c.231-13582G>T
c.7503G>T (p.Met2501Ile)
c.7398G>T (p.Met2466Ile)
c.7389G>T (p.Met2463Ile)
c.7350G>T (p.Met2450Ile)
c.7296G>T (p.Met2432Ile)
c.7200G>T (p.Met2400Ile)
c.7170G>T (p.Met2390Ile)
c.7095G>T (p.Met2365Ile)
c.6993G>T (p.Met2331Ile)
c.6624G>T (p.Met2208Ile)
5g.112843067_112843069delinsGTCCA1573471091APCc.7527_7529delinsGTC (p.Met2509=)
c.*7479_*7481delinsGTC (n.*7479_*7481delinsGTC)
c.7419_7421delinsGTC (p.Met2473=)
c.7473_7475delinsGTC (p.Met2491=)
c.231-13582_231-13580delinsGTC
c.7503_7505delinsGTC (p.Met2501=)
c.7398_7400delinsGTC (p.Met2466=)
c.7389_7391delinsGTC (p.Met2463=)
c.7350_7352delinsGTC (p.Met2450=)
c.7296_7298delinsGTC (p.Met2432=)
c.7200_7202delinsGTC (p.Met2400=)
c.7170_7172delinsGTC (p.Met2390=)
c.7095_7097delinsGTC (p.Met2365=)
c.6993_6995delinsGTC (p.Met2331=)
c.6624_6626delinsGTC (p.Met2208=)
5g.112843068T>ACA16037590APCc.7528T>A (p.Ser2510Thr)
c.*7480T>A (n.*7480T>A)
c.7420T>A (p.Ser2474Thr)
c.7474T>A (p.Ser2492Thr)
c.231-13581T>A
c.7504T>A (p.Ser2502Thr)
c.7399T>A (p.Ser2467Thr)
c.7390T>A (p.Ser2464Thr)
c.7351T>A (p.Ser2451Thr)
c.7297T>A (p.Ser2433Thr)
c.7201T>A (p.Ser2401Thr)
c.7171T>A (p.Ser2391Thr)
c.7096T>A (p.Ser2366Thr)
c.6994T>A (p.Ser2332Thr)
c.6625T>A (p.Ser2209Thr)
dbSNP
5g.112843068T>CCA16037591APCc.7528T>C (p.Ser2510Pro)
c.*7480T>C (n.*7480T>C)
c.7420T>C (p.Ser2474Pro)
c.7474T>C (p.Ser2492Pro)
c.231-13581T>C
c.7504T>C (p.Ser2502Pro)
c.7399T>C (p.Ser2467Pro)
c.7390T>C (p.Ser2464Pro)
c.7351T>C (p.Ser2451Pro)
c.7297T>C (p.Ser2433Pro)
c.7201T>C (p.Ser2401Pro)
c.7171T>C (p.Ser2391Pro)
c.7096T>C (p.Ser2366Pro)
c.6994T>C (p.Ser2332Pro)
c.6625T>C (p.Ser2209Pro)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843068T>GCA16037592APCc.7528T>G (p.Ser2510Ala)
c.*7480T>G (n.*7480T>G)
c.7420T>G (p.Ser2474Ala)
c.7474T>G (p.Ser2492Ala)
c.231-13581T>G
c.7504T>G (p.Ser2502Ala)
c.7399T>G (p.Ser2467Ala)
c.7390T>G (p.Ser2464Ala)
c.7351T>G (p.Ser2451Ala)
c.7297T>G (p.Ser2433Ala)
c.7201T>G (p.Ser2401Ala)
c.7171T>G (p.Ser2391Ala)
c.7096T>G (p.Ser2366Ala)
c.6994T>G (p.Ser2332Ala)
c.6625T>G (p.Ser2209Ala)
5g.112843068T=CA1573471109APCc.7528T= (p.Ser2510=)
c.*7480T= (n.*7480T=)
c.7420T= (p.Ser2474=)
c.7474T= (p.Ser2492=)
c.231-13581T=
c.7504T= (p.Ser2502=)
c.7399T= (p.Ser2467=)
c.7390T= (p.Ser2464=)
c.7351T= (p.Ser2451=)
c.7297T= (p.Ser2433=)
c.7201T= (p.Ser2401=)
c.7171T= (p.Ser2391=)
c.7096T= (p.Ser2366=)
c.6994T= (p.Ser2332=)
c.6625T= (p.Ser2209=)
5g.112843071_112843072delCA446210786APCc.7531_7532del (p.Leu2511IlefsTer17)
c.*7483_*7484del (n.*7483_*7484del)
c.7423_7424del (p.Leu2475IlefsTer17)
c.7477_7478del (p.Leu2493IlefsTer17)
c.231-13578_231-13577del
c.7507_7508del (p.Leu2503IlefsTer17)
c.7402_7403del (p.Leu2468IlefsTer17)
c.7393_7394del (p.Leu2465IlefsTer17)
c.7354_7355del (p.Leu2452IlefsTer17)
c.7300_7301del (p.Leu2434IlefsTer17)
c.7204_7205del (p.Leu2402IlefsTer17)
c.7174_7175del (p.Leu2392IlefsTer17)
c.7099_7100del (p.Leu2367IlefsTer17)
c.6997_6998del (p.Leu2333IlefsTer17)
c.6628_6629del (p.Leu2210IlefsTer17)
ClinVar dbSNP
5g.112843069C>ACA16037593APCc.7529C>A (p.Ser2510Tyr)
c.*7481C>A (n.*7481C>A)
c.7421C>A (p.Ser2474Tyr)
c.7475C>A (p.Ser2492Tyr)
c.231-13580C>A
c.7505C>A (p.Ser2502Tyr)
c.7400C>A (p.Ser2467Tyr)
c.7391C>A (p.Ser2464Tyr)
c.7352C>A (p.Ser2451Tyr)
c.7298C>A (p.Ser2433Tyr)
c.7202C>A (p.Ser2401Tyr)
c.7172C>A (p.Ser2391Tyr)
c.7097C>A (p.Ser2366Tyr)
c.6995C>A (p.Ser2332Tyr)
c.6626C>A (p.Ser2209Tyr)
dbSNP
5g.112843069C=CA1573471136APCc.7529C= (p.Ser2510=)
c.*7481C= (n.*7481C=)
c.7421C= (p.Ser2474=)
c.7475C= (p.Ser2492=)
c.231-13580C=
c.7505C= (p.Ser2502=)
c.7400C= (p.Ser2467=)
c.7391C= (p.Ser2464=)
c.7352C= (p.Ser2451=)
c.7298C= (p.Ser2433=)
c.7202C= (p.Ser2401=)
c.7172C= (p.Ser2391=)
c.7097C= (p.Ser2366=)
c.6995C= (p.Ser2332=)
c.6626C= (p.Ser2209=)
5g.112843069C>GCA16037594APCc.7529C>G (p.Ser2510Cys)
c.*7481C>G (n.*7481C>G)
c.7421C>G (p.Ser2474Cys)
c.7475C>G (p.Ser2492Cys)
c.231-13580C>G
c.7505C>G (p.Ser2502Cys)
c.7400C>G (p.Ser2467Cys)
c.7391C>G (p.Ser2464Cys)
c.7352C>G (p.Ser2451Cys)
c.7298C>G (p.Ser2433Cys)
c.7202C>G (p.Ser2401Cys)
c.7172C>G (p.Ser2391Cys)
c.7097C>G (p.Ser2366Cys)
c.6995C>G (p.Ser2332Cys)
c.6626C>G (p.Ser2209Cys)
ClinVar dbSNP gnomAD v4
5g.112843069C>TCA16037595APCc.7529C>T (p.Ser2510Phe)
c.*7481C>T (n.*7481C>T)
c.7421C>T (p.Ser2474Phe)
c.7475C>T (p.Ser2492Phe)
c.231-13580C>T
c.7505C>T (p.Ser2502Phe)
c.7400C>T (p.Ser2467Phe)
c.7391C>T (p.Ser2464Phe)
c.7352C>T (p.Ser2451Phe)
c.7298C>T (p.Ser2433Phe)
c.7202C>T (p.Ser2401Phe)
c.7172C>T (p.Ser2391Phe)
c.7097C>T (p.Ser2366Phe)
c.6995C>T (p.Ser2332Phe)
c.6626C>T (p.Ser2209Phe)
ClinVar dbSNP gnomAD v4
5g.112843070T>ACA446210794APCc.7530T>A (p.Ser2510=)
c.*7482T>A (n.*7482T>A)
c.7422T>A (p.Ser2474=)
c.7476T>A (p.Ser2492=)
c.231-13579T>A
c.7506T>A (p.Ser2502=)
c.7401T>A (p.Ser2467=)
c.7392T>A (p.Ser2464=)
c.7353T>A (p.Ser2451=)
c.7299T>A (p.Ser2433=)
c.7203T>A (p.Ser2401=)
c.7173T>A (p.Ser2391=)
c.7098T>A (p.Ser2366=)
c.6996T>A (p.Ser2332=)
c.6627T>A (p.Ser2209=)
dbSNP
5g.112843070T>CCA446210791APCc.7530T>C (p.Ser2510=)
c.*7482T>C (n.*7482T>C)
c.7422T>C (p.Ser2474=)
c.7476T>C (p.Ser2492=)
c.231-13579T>C
c.7506T>C (p.Ser2502=)
c.7401T>C (p.Ser2467=)
c.7392T>C (p.Ser2464=)
c.7353T>C (p.Ser2451=)
c.7299T>C (p.Ser2433=)
c.7203T>C (p.Ser2401=)
c.7173T>C (p.Ser2391=)
c.7098T>C (p.Ser2366=)
c.6996T>C (p.Ser2332=)
c.6627T>C (p.Ser2209=)
ClinVar dbSNP
5g.112843070T>GCA446210793APCc.7530T>G (p.Ser2510=)
c.*7482T>G (n.*7482T>G)
c.7422T>G (p.Ser2474=)
c.7476T>G (p.Ser2492=)
c.231-13579T>G
c.7506T>G (p.Ser2502=)
c.7401T>G (p.Ser2467=)
c.7392T>G (p.Ser2464=)
c.7353T>G (p.Ser2451=)
c.7299T>G (p.Ser2433=)
c.7203T>G (p.Ser2401=)
c.7173T>G (p.Ser2391=)
c.7098T>G (p.Ser2366=)
c.6996T>G (p.Ser2332=)
c.6627T>G (p.Ser2209=)
5g.112843071C>ACA16037596APCc.7531C>A (p.Leu2511Ile)
c.*7483C>A (n.*7483C>A)
c.7423C>A (p.Leu2475Ile)
c.7477C>A (p.Leu2493Ile)
c.231-13578C>A
c.7507C>A (p.Leu2503Ile)
c.7402C>A (p.Leu2468Ile)
c.7393C>A (p.Leu2465Ile)
c.7354C>A (p.Leu2452Ile)
c.7300C>A (p.Leu2434Ile)
c.7204C>A (p.Leu2402Ile)
c.7174C>A (p.Leu2392Ile)
c.7099C>A (p.Leu2367Ile)
c.6997C>A (p.Leu2333Ile)
c.6628C>A (p.Leu2210Ile)
ClinVar dbSNP
5g.112843071C>GCA16037597APCc.7531C>G (p.Leu2511Val)
c.*7483C>G (n.*7483C>G)
c.7423C>G (p.Leu2475Val)
c.7477C>G (p.Leu2493Val)
c.231-13578C>G
c.7507C>G (p.Leu2503Val)
c.7402C>G (p.Leu2468Val)
c.7393C>G (p.Leu2465Val)
c.7354C>G (p.Leu2452Val)
c.7300C>G (p.Leu2434Val)
c.7204C>G (p.Leu2402Val)
c.7174C>G (p.Leu2392Val)
c.7099C>G (p.Leu2367Val)
c.6997C>G (p.Leu2333Val)
c.6628C>G (p.Leu2210Val)
ClinVar dbSNP
5g.112843071C>TCA446210795APCc.7531C>T (p.Leu2511=)
c.*7483C>T (n.*7483C>T)
c.7423C>T (p.Leu2475=)
c.7477C>T (p.Leu2493=)
c.231-13578C>T
c.7507C>T (p.Leu2503=)
c.7402C>T (p.Leu2468=)
c.7393C>T (p.Leu2465=)
c.7354C>T (p.Leu2452=)
c.7300C>T (p.Leu2434=)
c.7204C>T (p.Leu2402=)
c.7174C>T (p.Leu2392=)
c.7099C>T (p.Leu2367=)
c.6997C>T (p.Leu2333=)
c.6628C>T (p.Leu2210=)
dbSNP COSMIC
5g.112843072T>ACA16037598APCc.7532T>A (p.Leu2511Gln)
c.*7484T>A (n.*7484T>A)
c.7424T>A (p.Leu2475Gln)
c.7478T>A (p.Leu2493Gln)
c.231-13577T>A
c.7508T>A (p.Leu2503Gln)
c.7403T>A (p.Leu2468Gln)
c.7394T>A (p.Leu2465Gln)
c.7355T>A (p.Leu2452Gln)
c.7301T>A (p.Leu2434Gln)
c.7205T>A (p.Leu2402Gln)
c.7175T>A (p.Leu2392Gln)
c.7100T>A (p.Leu2367Gln)
c.6998T>A (p.Leu2333Gln)
c.6629T>A (p.Leu2210Gln)
dbSNP
5g.112843072T>CCA048192APCc.7532T>C (p.Leu2511Pro)
c.*7484T>C (n.*7484T>C)
c.7424T>C (p.Leu2475Pro)
c.7478T>C (p.Leu2493Pro)
c.231-13577T>C
c.7508T>C (p.Leu2503Pro)
c.7403T>C (p.Leu2468Pro)
c.7394T>C (p.Leu2465Pro)
c.7355T>C (p.Leu2452Pro)
c.7301T>C (p.Leu2434Pro)
c.7205T>C (p.Leu2402Pro)
c.7175T>C (p.Leu2392Pro)
c.7100T>C (p.Leu2367Pro)
c.6998T>C (p.Leu2333Pro)
c.6629T>C (p.Leu2210Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843072T>GCA16037599APCc.7532T>G (p.Leu2511Arg)
c.*7484T>G (n.*7484T>G)
c.7424T>G (p.Leu2475Arg)
c.7478T>G (p.Leu2493Arg)
c.231-13577T>G
c.7508T>G (p.Leu2503Arg)
c.7403T>G (p.Leu2468Arg)
c.7394T>G (p.Leu2465Arg)
c.7355T>G (p.Leu2452Arg)
c.7301T>G (p.Leu2434Arg)
c.7205T>G (p.Leu2402Arg)
c.7175T>G (p.Leu2392Arg)
c.7100T>G (p.Leu2367Arg)
c.6998T>G (p.Leu2333Arg)
c.6629T>G (p.Leu2210Arg)
5g.112843072T=CA1573471148APCc.7532T= (p.Leu2511=)
c.*7484T= (n.*7484T=)
c.7424T= (p.Leu2475=)
c.7478T= (p.Leu2493=)
c.231-13577T=
c.7508T= (p.Leu2503=)
c.7403T= (p.Leu2468=)
c.7394T= (p.Leu2465=)
c.7355T= (p.Leu2452=)
c.7301T= (p.Leu2434=)
c.7205T= (p.Leu2402=)
c.7175T= (p.Leu2392=)
c.7100T= (p.Leu2367=)
c.6998T= (p.Leu2333=)
c.6629T= (p.Leu2210=)
5g.112843073A=CA1573471156APCc.7533A= (p.Leu2511=)
c.*7485A= (n.*7485A=)
c.7425A= (p.Leu2475=)
c.7479A= (p.Leu2493=)
c.231-13576A=
c.7509A= (p.Leu2503=)
c.7404A= (p.Leu2468=)
c.7395A= (p.Leu2465=)
c.7356A= (p.Leu2452=)
c.7302A= (p.Leu2434=)
c.7206A= (p.Leu2402=)
c.7176A= (p.Leu2392=)
c.7101A= (p.Leu2367=)
c.6999A= (p.Leu2333=)
c.6630A= (p.Leu2210=)
5g.112843073A>CCA446210801APCc.7533A>C (p.Leu2511=)
c.*7485A>C (n.*7485A>C)
c.7425A>C (p.Leu2475=)
c.7479A>C (p.Leu2493=)
c.231-13576A>C
c.7509A>C (p.Leu2503=)
c.7404A>C (p.Leu2468=)
c.7395A>C (p.Leu2465=)
c.7356A>C (p.Leu2452=)
c.7302A>C (p.Leu2434=)
c.7206A>C (p.Leu2402=)
c.7176A>C (p.Leu2392=)
c.7101A>C (p.Leu2367=)
c.6999A>C (p.Leu2333=)
c.6630A>C (p.Leu2210=)
ClinVar dbSNP
5g.112843073A>GCA048203APCc.7533A>G (p.Leu2511=)
c.*7485A>G (n.*7485A>G)
c.7425A>G (p.Leu2475=)
c.7479A>G (p.Leu2493=)
c.231-13576A>G
c.7509A>G (p.Leu2503=)
c.7404A>G (p.Leu2468=)
c.7395A>G (p.Leu2465=)
c.7356A>G (p.Leu2452=)
c.7302A>G (p.Leu2434=)
c.7206A>G (p.Leu2402=)
c.7176A>G (p.Leu2392=)
c.7101A>G (p.Leu2367=)
c.6999A>G (p.Leu2333=)
c.6630A>G (p.Leu2210=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843073A>TCA446210803APCc.7533A>T (p.Leu2511=)
c.*7485A>T (n.*7485A>T)
c.7425A>T (p.Leu2475=)
c.7479A>T (p.Leu2493=)
c.231-13576A>T
c.7509A>T (p.Leu2503=)
c.7404A>T (p.Leu2468=)
c.7395A>T (p.Leu2465=)
c.7356A>T (p.Leu2452=)
c.7302A>T (p.Leu2434=)
c.7206A>T (p.Leu2402=)
c.7176A>T (p.Leu2392=)
c.7101A>T (p.Leu2367=)
c.6999A>T (p.Leu2333=)
c.6630A>T (p.Leu2210=)
ClinVar dbSNP
5g.112843074T>ACA16037600APCc.7534T>A (p.Ser2512Thr)
c.*7486T>A (n.*7486T>A)
c.7426T>A (p.Ser2476Thr)
c.7480T>A (p.Ser2494Thr)
c.231-13575T>A
c.7510T>A (p.Ser2504Thr)
c.7405T>A (p.Ser2469Thr)
c.7396T>A (p.Ser2466Thr)
c.7357T>A (p.Ser2453Thr)
c.7303T>A (p.Ser2435Thr)
c.7207T>A (p.Ser2403Thr)
c.7177T>A (p.Ser2393Thr)
c.7102T>A (p.Ser2368Thr)
c.7000T>A (p.Ser2334Thr)
c.6631T>A (p.Ser2211Thr)
5g.112843074T>CCA16037601APCc.7534T>C (p.Ser2512Pro)
c.*7486T>C (n.*7486T>C)
c.7426T>C (p.Ser2476Pro)
c.7480T>C (p.Ser2494Pro)
c.231-13575T>C
c.7510T>C (p.Ser2504Pro)
c.7405T>C (p.Ser2469Pro)
c.7396T>C (p.Ser2466Pro)
c.7357T>C (p.Ser2453Pro)
c.7303T>C (p.Ser2435Pro)
c.7207T>C (p.Ser2403Pro)
c.7177T>C (p.Ser2393Pro)
c.7102T>C (p.Ser2368Pro)
c.7000T>C (p.Ser2334Pro)
c.6631T>C (p.Ser2211Pro)
gnomAD v4
5g.112843074T>GCA16037602APCc.7534T>G (p.Ser2512Ala)
c.*7486T>G (n.*7486T>G)
c.7426T>G (p.Ser2476Ala)
c.7480T>G (p.Ser2494Ala)
c.231-13575T>G
c.7510T>G (p.Ser2504Ala)
c.7405T>G (p.Ser2469Ala)
c.7396T>G (p.Ser2466Ala)
c.7357T>G (p.Ser2453Ala)
c.7303T>G (p.Ser2435Ala)
c.7207T>G (p.Ser2403Ala)
c.7177T>G (p.Ser2393Ala)
c.7102T>G (p.Ser2368Ala)
c.7000T>G (p.Ser2334Ala)
c.6631T>G (p.Ser2211Ala)
5g.112843075C>ACA16037603APCc.7535C>A (p.Ser2512Tyr)
c.*7487C>A (n.*7487C>A)
c.7427C>A (p.Ser2476Tyr)
c.7481C>A (p.Ser2494Tyr)
c.231-13574C>A
c.7511C>A (p.Ser2504Tyr)
c.7406C>A (p.Ser2469Tyr)
c.7397C>A (p.Ser2466Tyr)
c.7358C>A (p.Ser2453Tyr)
c.7304C>A (p.Ser2435Tyr)
c.7208C>A (p.Ser2403Tyr)
c.7178C>A (p.Ser2393Tyr)
c.7103C>A (p.Ser2368Tyr)
c.7001C>A (p.Ser2334Tyr)
c.6632C>A (p.Ser2211Tyr)
dbSNP gnomAD v4
5g.112843075C=CA1573471169APCc.7535C= (p.Ser2512=)
c.*7487C= (n.*7487C=)
c.7427C= (p.Ser2476=)
c.7481C= (p.Ser2494=)
c.231-13574C=
c.7511C= (p.Ser2504=)
c.7406C= (p.Ser2469=)
c.7397C= (p.Ser2466=)
c.7358C= (p.Ser2453=)
c.7304C= (p.Ser2435=)
c.7208C= (p.Ser2403=)
c.7178C= (p.Ser2393=)
c.7103C= (p.Ser2368=)
c.7001C= (p.Ser2334=)
c.6632C= (p.Ser2211=)
5g.112843075C>GCA16037604APCc.7535C>G (p.Ser2512Cys)
c.*7487C>G (n.*7487C>G)
c.7427C>G (p.Ser2476Cys)
c.7481C>G (p.Ser2494Cys)
c.231-13574C>G
c.7511C>G (p.Ser2504Cys)
c.7406C>G (p.Ser2469Cys)
c.7397C>G (p.Ser2466Cys)
c.7358C>G (p.Ser2453Cys)
c.7304C>G (p.Ser2435Cys)
c.7208C>G (p.Ser2403Cys)
c.7178C>G (p.Ser2393Cys)
c.7103C>G (p.Ser2368Cys)
c.7001C>G (p.Ser2334Cys)
c.6632C>G (p.Ser2211Cys)
ClinVar dbSNP
5g.112843075C>TCA16037605APCc.7535C>T (p.Ser2512Phe)
c.*7487C>T (n.*7487C>T)
c.7427C>T (p.Ser2476Phe)
c.7481C>T (p.Ser2494Phe)
c.231-13574C>T
c.7511C>T (p.Ser2504Phe)
c.7406C>T (p.Ser2469Phe)
c.7397C>T (p.Ser2466Phe)
c.7358C>T (p.Ser2453Phe)
c.7304C>T (p.Ser2435Phe)
c.7208C>T (p.Ser2403Phe)
c.7178C>T (p.Ser2393Phe)
c.7103C>T (p.Ser2368Phe)
c.7001C>T (p.Ser2334Phe)
c.6632C>T (p.Ser2211Phe)
dbSNP gnomAD v4
5g.112843076C>ACA446210813APCc.7536C>A (p.Ser2512=)
c.*7488C>A (n.*7488C>A)
c.7428C>A (p.Ser2476=)
c.7482C>A (p.Ser2494=)
c.231-13573C>A
c.7512C>A (p.Ser2504=)
c.7407C>A (p.Ser2469=)
c.7398C>A (p.Ser2466=)
c.7359C>A (p.Ser2453=)
c.7305C>A (p.Ser2435=)
c.7209C>A (p.Ser2403=)
c.7179C>A (p.Ser2393=)
c.7104C>A (p.Ser2368=)
c.7002C>A (p.Ser2334=)
c.6633C>A (p.Ser2211=)
dbSNP
5g.112843076C=CA1573471176APCc.7536C= (p.Ser2512=)
c.*7488C= (n.*7488C=)
c.7428C= (p.Ser2476=)
c.7482C= (p.Ser2494=)
c.231-13573C=
c.7512C= (p.Ser2504=)
c.7407C= (p.Ser2469=)
c.7398C= (p.Ser2466=)
c.7359C= (p.Ser2453=)
c.7305C= (p.Ser2435=)
c.7209C= (p.Ser2403=)
c.7179C= (p.Ser2393=)
c.7104C= (p.Ser2368=)
c.7002C= (p.Ser2334=)
c.6633C= (p.Ser2211=)
5g.112843076C>GCA446210815APCc.7536C>G (p.Ser2512=)
c.*7488C>G (n.*7488C>G)
c.7428C>G (p.Ser2476=)
c.7482C>G (p.Ser2494=)
c.231-13573C>G
c.7512C>G (p.Ser2504=)
c.7407C>G (p.Ser2469=)
c.7398C>G (p.Ser2466=)
c.7359C>G (p.Ser2453=)
c.7305C>G (p.Ser2435=)
c.7209C>G (p.Ser2403=)
c.7179C>G (p.Ser2393=)
c.7104C>G (p.Ser2368=)
c.7002C>G (p.Ser2334=)
c.6633C>G (p.Ser2211=)
dbSNP
5g.112843076C>TCA446210816APCc.7536C>T (p.Ser2512=)
c.*7488C>T (n.*7488C>T)
c.7428C>T (p.Ser2476=)
c.7482C>T (p.Ser2494=)
c.231-13573C>T
c.7512C>T (p.Ser2504=)
c.7407C>T (p.Ser2469=)
c.7398C>T (p.Ser2466=)
c.7359C>T (p.Ser2453=)
c.7305C>T (p.Ser2435=)
c.7209C>T (p.Ser2403=)
c.7179C>T (p.Ser2393=)
c.7104C>T (p.Ser2368=)
c.7002C>T (p.Ser2334=)
c.6633C>T (p.Ser2211=)
ClinVar dbSNP gnomAD v4
5g.112843077A>CCA16037606APCc.7537A>C (p.Thr2513Pro)
c.*7489A>C (n.*7489A>C)
c.7429A>C (p.Thr2477Pro)
c.7483A>C (p.Thr2495Pro)
c.231-13572A>C
c.7513A>C (p.Thr2505Pro)
c.7408A>C (p.Thr2470Pro)
c.7399A>C (p.Thr2467Pro)
c.7360A>C (p.Thr2454Pro)
c.7306A>C (p.Thr2436Pro)
c.7210A>C (p.Thr2404Pro)
c.7180A>C (p.Thr2394Pro)
c.7105A>C (p.Thr2369Pro)
c.7003A>C (p.Thr2335Pro)
c.6634A>C (p.Thr2212Pro)
dbSNP
5g.112843077A>GCA16037607APCc.7537A>G (p.Thr2513Ala)
c.*7489A>G (n.*7489A>G)
c.7429A>G (p.Thr2477Ala)
c.7483A>G (p.Thr2495Ala)
c.231-13572A>G
c.7513A>G (p.Thr2505Ala)
c.7408A>G (p.Thr2470Ala)
c.7399A>G (p.Thr2467Ala)
c.7360A>G (p.Thr2454Ala)
c.7306A>G (p.Thr2436Ala)
c.7210A>G (p.Thr2404Ala)
c.7180A>G (p.Thr2394Ala)
c.7105A>G (p.Thr2369Ala)
c.7003A>G (p.Thr2335Ala)
c.6634A>G (p.Thr2212Ala)
ClinVar dbSNP
5g.112843077A>TCA16037608APCc.7537A>T (p.Thr2513Ser)
c.*7489A>T (n.*7489A>T)
c.7429A>T (p.Thr2477Ser)
c.7483A>T (p.Thr2495Ser)
c.231-13572A>T
c.7513A>T (p.Thr2505Ser)
c.7408A>T (p.Thr2470Ser)
c.7399A>T (p.Thr2467Ser)
c.7360A>T (p.Thr2454Ser)
c.7306A>T (p.Thr2436Ser)
c.7210A>T (p.Thr2404Ser)
c.7180A>T (p.Thr2394Ser)
c.7105A>T (p.Thr2369Ser)
c.7003A>T (p.Thr2335Ser)
c.6634A>T (p.Thr2212Ser)
dbSNP
5g.112843078C>ACA16037609APCc.7538C>A (p.Thr2513Lys)
c.*7490C>A (n.*7490C>A)
c.7430C>A (p.Thr2477Lys)
c.7484C>A (p.Thr2495Lys)
c.231-13571C>A
c.7514C>A (p.Thr2505Lys)
c.7409C>A (p.Thr2470Lys)
c.7400C>A (p.Thr2467Lys)
c.7361C>A (p.Thr2454Lys)
c.7307C>A (p.Thr2436Lys)
c.7211C>A (p.Thr2404Lys)
c.7181C>A (p.Thr2394Lys)
c.7106C>A (p.Thr2369Lys)
c.7004C>A (p.Thr2335Lys)
c.6635C>A (p.Thr2212Lys)
ClinVar dbSNP
5g.112843078C=CA1573471183APCc.7538C= (p.Thr2513=)
c.*7490C= (n.*7490C=)
c.7430C= (p.Thr2477=)
c.7484C= (p.Thr2495=)
c.231-13571C=
c.7514C= (p.Thr2505=)
c.7409C= (p.Thr2470=)
c.7400C= (p.Thr2467=)
c.7361C= (p.Thr2454=)
c.7307C= (p.Thr2436=)
c.7211C= (p.Thr2404=)
c.7181C= (p.Thr2394=)
c.7106C= (p.Thr2369=)
c.7004C= (p.Thr2335=)
c.6635C= (p.Thr2212=)
5g.112843078C>GCA16037610APCc.7538C>G (p.Thr2513Arg)
c.*7490C>G (n.*7490C>G)
c.7430C>G (p.Thr2477Arg)
c.7484C>G (p.Thr2495Arg)
c.231-13571C>G
c.7514C>G (p.Thr2505Arg)
c.7409C>G (p.Thr2470Arg)
c.7400C>G (p.Thr2467Arg)
c.7361C>G (p.Thr2454Arg)
c.7307C>G (p.Thr2436Arg)
c.7211C>G (p.Thr2404Arg)
c.7181C>G (p.Thr2394Arg)
c.7106C>G (p.Thr2369Arg)
c.7004C>G (p.Thr2335Arg)
c.6635C>G (p.Thr2212Arg)
ClinVar dbSNP
5g.112843078C>TCA16037611APCc.7538C>T (p.Thr2513Ile)
c.*7490C>T (n.*7490C>T)
c.7430C>T (p.Thr2477Ile)
c.7484C>T (p.Thr2495Ile)
c.231-13571C>T
c.7514C>T (p.Thr2505Ile)
c.7409C>T (p.Thr2470Ile)
c.7400C>T (p.Thr2467Ile)
c.7361C>T (p.Thr2454Ile)
c.7307C>T (p.Thr2436Ile)
c.7211C>T (p.Thr2404Ile)
c.7181C>T (p.Thr2394Ile)
c.7106C>T (p.Thr2369Ile)
c.7004C>T (p.Thr2335Ile)
c.6635C>T (p.Thr2212Ile)
ClinVar dbSNP gnomAD v4
5g.112843079A>CCA446210825APCc.7539A>C (p.Thr2513=)
c.*7491A>C (n.*7491A>C)
c.7431A>C (p.Thr2477=)
c.7485A>C (p.Thr2495=)
c.231-13570A>C
c.7515A>C (p.Thr2505=)
c.7410A>C (p.Thr2470=)
c.7401A>C (p.Thr2467=)
c.7362A>C (p.Thr2454=)
c.7308A>C (p.Thr2436=)
c.7212A>C (p.Thr2404=)
c.7182A>C (p.Thr2394=)
c.7107A>C (p.Thr2369=)
c.7005A>C (p.Thr2335=)
c.6636A>C (p.Thr2212=)
5g.112843079A>GCA446210827APCc.7539A>G (p.Thr2513=)
c.*7491A>G (n.*7491A>G)
c.7431A>G (p.Thr2477=)
c.7485A>G (p.Thr2495=)
c.231-13570A>G
c.7515A>G (p.Thr2505=)
c.7410A>G (p.Thr2470=)
c.7401A>G (p.Thr2467=)
c.7362A>G (p.Thr2454=)
c.7308A>G (p.Thr2436=)
c.7212A>G (p.Thr2404=)
c.7182A>G (p.Thr2394=)
c.7107A>G (p.Thr2369=)
c.7005A>G (p.Thr2335=)
c.6636A>G (p.Thr2212=)
ClinVar dbSNP
5g.112843079A>TCA446210828APCc.7539A>T (p.Thr2513=)
c.*7491A>T (n.*7491A>T)
c.7431A>T (p.Thr2477=)
c.7485A>T (p.Thr2495=)
c.231-13570A>T
c.7515A>T (p.Thr2505=)
c.7410A>T (p.Thr2470=)
c.7401A>T (p.Thr2467=)
c.7362A>T (p.Thr2454=)
c.7308A>T (p.Thr2436=)
c.7212A>T (p.Thr2404=)
c.7182A>T (p.Thr2394=)
c.7107A>T (p.Thr2369=)
c.7005A>T (p.Thr2335=)
c.6636A>T (p.Thr2212=)
dbSNP
5g.112843080C>ACA16037612APCc.7540C>A (p.His2514Asn)
c.*7492C>A (n.*7492C>A)
c.7432C>A (p.His2478Asn)
c.7486C>A (p.His2496Asn)
c.231-13569C>A
c.7516C>A (p.His2506Asn)
c.7411C>A (p.His2471Asn)
c.7402C>A (p.His2468Asn)
c.7363C>A (p.His2455Asn)
c.7309C>A (p.His2437Asn)
c.7213C>A (p.His2405Asn)
c.7183C>A (p.His2395Asn)
c.7108C>A (p.His2370Asn)
c.7006C>A (p.His2336Asn)
c.6637C>A (p.His2213Asn)
dbSNP
5g.112843080C>GCA16037613APCc.7540C>G (p.His2514Asp)
c.*7492C>G (n.*7492C>G)
c.7432C>G (p.His2478Asp)
c.7486C>G (p.His2496Asp)
c.231-13569C>G
c.7516C>G (p.His2506Asp)
c.7411C>G (p.His2471Asp)
c.7402C>G (p.His2468Asp)
c.7363C>G (p.His2455Asp)
c.7309C>G (p.His2437Asp)
c.7213C>G (p.His2405Asp)
c.7183C>G (p.His2395Asp)
c.7108C>G (p.His2370Asp)
c.7006C>G (p.His2336Asp)
c.6637C>G (p.His2213Asp)
dbSNP
5g.112843080C>TCA16037614APCc.7540C>T (p.His2514Tyr)
c.*7492C>T (n.*7492C>T)
c.7432C>T (p.His2478Tyr)
c.7486C>T (p.His2496Tyr)
c.231-13569C>T
c.7516C>T (p.His2506Tyr)
c.7411C>T (p.His2471Tyr)
c.7402C>T (p.His2468Tyr)
c.7363C>T (p.His2455Tyr)
c.7309C>T (p.His2437Tyr)
c.7213C>T (p.His2405Tyr)
c.7183C>T (p.His2395Tyr)
c.7108C>T (p.His2370Tyr)
c.7006C>T (p.His2336Tyr)
c.6637C>T (p.His2213Tyr)
dbSNP
5g.112843081A=CA1573471193APCc.7541A= (p.His2514=)
c.*7493A= (n.*7493A=)
c.7433A= (p.His2478=)
c.7487A= (p.His2496=)
c.231-13568A=
c.7517A= (p.His2506=)
c.7412A= (p.His2471=)
c.7403A= (p.His2468=)
c.7364A= (p.His2455=)
c.7310A= (p.His2437=)
c.7214A= (p.His2405=)
c.7184A= (p.His2395=)
c.7109A= (p.His2370=)
c.7007A= (p.His2336=)
c.6638A= (p.His2213=)
5g.112843081A>CCA16037615APCc.7541A>C (p.His2514Pro)
c.*7493A>C (n.*7493A>C)
c.7433A>C (p.His2478Pro)
c.7487A>C (p.His2496Pro)
c.231-13568A>C
c.7517A>C (p.His2506Pro)
c.7412A>C (p.His2471Pro)
c.7403A>C (p.His2468Pro)
c.7364A>C (p.His2455Pro)
c.7310A>C (p.His2437Pro)
c.7214A>C (p.His2405Pro)
c.7184A>C (p.His2395Pro)
c.7109A>C (p.His2370Pro)
c.7007A>C (p.His2336Pro)
c.6638A>C (p.His2213Pro)
dbSNP gnomAD v4
5g.112843081A>GCA16037616APCc.7541A>G (p.His2514Arg)
c.*7493A>G (n.*7493A>G)
c.7433A>G (p.His2478Arg)
c.7487A>G (p.His2496Arg)
c.231-13568A>G
c.7517A>G (p.His2506Arg)
c.7412A>G (p.His2471Arg)
c.7403A>G (p.His2468Arg)
c.7364A>G (p.His2455Arg)
c.7310A>G (p.His2437Arg)
c.7214A>G (p.His2405Arg)
c.7184A>G (p.His2395Arg)
c.7109A>G (p.His2370Arg)
c.7007A>G (p.His2336Arg)
c.6638A>G (p.His2213Arg)
ClinVar dbSNP gnomAD v4
5g.112843081A>TCA16037617APCc.7541A>T (p.His2514Leu)
c.*7493A>T (n.*7493A>T)
c.7433A>T (p.His2478Leu)
c.7487A>T (p.His2496Leu)
c.231-13568A>T
c.7517A>T (p.His2506Leu)
c.7412A>T (p.His2471Leu)
c.7403A>T (p.His2468Leu)
c.7364A>T (p.His2455Leu)
c.7310A>T (p.His2437Leu)
c.7214A>T (p.His2405Leu)
c.7184A>T (p.His2395Leu)
c.7109A>T (p.His2370Leu)
c.7007A>T (p.His2336Leu)
c.6638A>T (p.His2213Leu)
dbSNP
5g.112843082T>ACA16037618APCc.7542T>A (p.His2514Gln)
c.*7494T>A (n.*7494T>A)
c.7434T>A (p.His2478Gln)
c.7488T>A (p.His2496Gln)
c.231-13567T>A
c.7518T>A (p.His2506Gln)
c.7413T>A (p.His2471Gln)
c.7404T>A (p.His2468Gln)
c.7365T>A (p.His2455Gln)
c.7311T>A (p.His2437Gln)
c.7215T>A (p.His2405Gln)
c.7185T>A (p.His2395Gln)
c.7110T>A (p.His2370Gln)
c.7008T>A (p.His2336Gln)
c.6639T>A (p.His2213Gln)
ClinVar dbSNP
5g.112843082T>CCA446210838APCc.7542T>C (p.His2514=)
c.*7494T>C (n.*7494T>C)
c.7434T>C (p.His2478=)
c.7488T>C (p.His2496=)
c.231-13567T>C
c.7518T>C (p.His2506=)
c.7413T>C (p.His2471=)
c.7404T>C (p.His2468=)
c.7365T>C (p.His2455=)
c.7311T>C (p.His2437=)
c.7215T>C (p.His2405=)
c.7185T>C (p.His2395=)
c.7110T>C (p.His2370=)
c.7008T>C (p.His2336=)
c.6639T>C (p.His2213=)
ClinVar dbSNP
5g.112843082T>GCA16037619APCc.7542T>G (p.His2514Gln)
c.*7494T>G (n.*7494T>G)
c.7434T>G (p.His2478Gln)
c.7488T>G (p.His2496Gln)
c.231-13567T>G
c.7518T>G (p.His2506Gln)
c.7413T>G (p.His2471Gln)
c.7404T>G (p.His2468Gln)
c.7365T>G (p.His2455Gln)
c.7311T>G (p.His2437Gln)
c.7215T>G (p.His2405Gln)
c.7185T>G (p.His2395Gln)
c.7110T>G (p.His2370Gln)
c.7008T>G (p.His2336Gln)
c.6639T>G (p.His2213Gln)
dbSNP
5g.112843082T=CA1573471217APCc.7542T= (p.His2514=)
c.*7494T= (n.*7494T=)
c.7434T= (p.His2478=)
c.7488T= (p.His2496=)
c.231-13567T=
c.7518T= (p.His2506=)
c.7413T= (p.His2471=)
c.7404T= (p.His2468=)
c.7365T= (p.His2455=)
c.7311T= (p.His2437=)
c.7215T= (p.His2405=)
c.7185T= (p.His2395=)
c.7110T= (p.His2370=)
c.7008T= (p.His2336=)
c.6639T= (p.His2213=)
5g.112843083dupCA562217619APCc.7543dup (p.Ser2515PhefsTer14)
c.*7495dup (n.*7495dup)
c.7435dup (p.Ser2479PhefsTer14)
c.7489dup (p.Ser2497PhefsTer14)
c.231-13566dup
c.7519dup (p.Ser2507PhefsTer14)
c.7414dup (p.Ser2472PhefsTer14)
c.7405dup (p.Ser2469PhefsTer14)
c.7366dup (p.Ser2456PhefsTer14)
c.7312dup (p.Ser2438PhefsTer14)
c.7216dup (p.Ser2406PhefsTer14)
c.7186dup (p.Ser2396PhefsTer14)
c.7111dup (p.Ser2371PhefsTer14)
c.7009dup (p.Ser2337PhefsTer14)
c.6640dup (p.Ser2214PhefsTer14)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843083delCA2674869209APCc.7543del (p.Ser2515ArgfsTer19)
c.*7495del (n.*7495del)
c.7435del (p.Ser2479ArgfsTer19)
c.7489del (p.Ser2497ArgfsTer19)
c.231-13566del
c.7519del (p.Ser2507ArgfsTer19)
c.7414del (p.Ser2472ArgfsTer19)
c.7405del (p.Ser2469ArgfsTer19)
c.7366del (p.Ser2456ArgfsTer19)
c.7312del (p.Ser2438ArgfsTer19)
c.7216del (p.Ser2406ArgfsTer19)
c.7186del (p.Ser2396ArgfsTer19)
c.7111del (p.Ser2371ArgfsTer19)
c.7009del (p.Ser2337ArgfsTer19)
c.6640del (p.Ser2214ArgfsTer19)
gnomAD v4
5g.112843082_112843083insACA2582341627APCc.7542_7543insA (p.Ser2515IlefsTer14)
c.*7494_*7495insA (n.*7494_*7495insA)
c.7434_7435insA (p.Ser2479IlefsTer14)
c.7488_7489insA (p.Ser2497IlefsTer14)
c.231-13567_231-13566insA
c.7518_7519insA (p.Ser2507IlefsTer14)
c.7413_7414insA (p.Ser2472IlefsTer14)
c.7404_7405insA (p.Ser2469IlefsTer14)
c.7365_7366insA (p.Ser2456IlefsTer14)
c.7311_7312insA (p.Ser2438IlefsTer14)
c.7215_7216insA (p.Ser2406IlefsTer14)
c.7185_7186insA (p.Ser2396IlefsTer14)
c.7110_7111insA (p.Ser2371IlefsTer14)
c.7008_7009insA (p.Ser2337IlefsTer14)
c.6639_6640insA (p.Ser2214IlefsTer14)
ClinVar
5g.112843083T>ACA16037620APCc.7543T>A (p.Ser2515Thr)
c.*7495T>A (n.*7495T>A)
c.7435T>A (p.Ser2479Thr)
c.7489T>A (p.Ser2497Thr)
c.231-13566T>A
c.7519T>A (p.Ser2507Thr)
c.7414T>A (p.Ser2472Thr)
c.7405T>A (p.Ser2469Thr)
c.7366T>A (p.Ser2456Thr)
c.7312T>A (p.Ser2438Thr)
c.7216T>A (p.Ser2406Thr)
c.7186T>A (p.Ser2396Thr)
c.7111T>A (p.Ser2371Thr)
c.7009T>A (p.Ser2337Thr)
c.6640T>A (p.Ser2214Thr)
ClinVar dbSNP
5g.112843083T>CCA16037621APCc.7543T>C (p.Ser2515Pro)
c.*7495T>C (n.*7495T>C)
c.7435T>C (p.Ser2479Pro)
c.7489T>C (p.Ser2497Pro)
c.231-13566T>C
c.7519T>C (p.Ser2507Pro)
c.7414T>C (p.Ser2472Pro)
c.7405T>C (p.Ser2469Pro)
c.7366T>C (p.Ser2456Pro)
c.7312T>C (p.Ser2438Pro)
c.7216T>C (p.Ser2406Pro)
c.7186T>C (p.Ser2396Pro)
c.7111T>C (p.Ser2371Pro)
c.7009T>C (p.Ser2337Pro)
c.6640T>C (p.Ser2214Pro)
5g.112843083T>GCA16037622APCc.7543T>G (p.Ser2515Ala)
c.*7495T>G (n.*7495T>G)
c.7435T>G (p.Ser2479Ala)
c.7489T>G (p.Ser2497Ala)
c.231-13566T>G
c.7519T>G (p.Ser2507Ala)
c.7414T>G (p.Ser2472Ala)
c.7405T>G (p.Ser2469Ala)
c.7366T>G (p.Ser2456Ala)
c.7312T>G (p.Ser2438Ala)
c.7216T>G (p.Ser2406Ala)
c.7186T>G (p.Ser2396Ala)
c.7111T>G (p.Ser2371Ala)
c.7009T>G (p.Ser2337Ala)
c.6640T>G (p.Ser2214Ala)
ClinVar
5g.112843083_112843084delinsAACA2580072378APCc.7543_7544delinsAA (p.Ser2515Lys)
c.*7495_*7496delinsAA (n.*7495_*7496delinsAA)
c.7435_7436delinsAA (p.Ser2479Lys)
c.7489_7490delinsAA (p.Ser2497Lys)
c.231-13566_231-13565delinsAA
c.7519_7520delinsAA (p.Ser2507Lys)
c.7414_7415delinsAA (p.Ser2472Lys)
c.7405_7406delinsAA (p.Ser2469Lys)
c.7366_7367delinsAA (p.Ser2456Lys)
c.7312_7313delinsAA (p.Ser2438Lys)
c.7216_7217delinsAA (p.Ser2406Lys)
c.7186_7187delinsAA (p.Ser2396Lys)
c.7111_7112delinsAA (p.Ser2371Lys)
c.7009_7010delinsAA (p.Ser2337Lys)
c.6640_6641delinsAA (p.Ser2214Lys)
ClinVar
5g.112843084C>ACA16037623APCc.7544C>A (p.Ser2515Ter)
c.*7496C>A (n.*7496C>A)
c.7436C>A (p.Ser2479Ter)
c.7490C>A (p.Ser2497Ter)
c.231-13565C>A
c.7520C>A (p.Ser2507Ter)
c.7415C>A (p.Ser2472Ter)
c.7406C>A (p.Ser2469Ter)
c.7367C>A (p.Ser2456Ter)
c.7313C>A (p.Ser2438Ter)
c.7217C>A (p.Ser2406Ter)
c.7187C>A (p.Ser2396Ter)
c.7112C>A (p.Ser2371Ter)
c.7010C>A (p.Ser2337Ter)
c.6641C>A (p.Ser2214Ter)
dbSNP COSMIC
5g.112843084C=CA1573471240APCc.7544C= (p.Ser2515=)
c.*7496C= (n.*7496C=)
c.7436C= (p.Ser2479=)
c.7490C= (p.Ser2497=)
c.231-13565C=
c.7520C= (p.Ser2507=)
c.7415C= (p.Ser2472=)
c.7406C= (p.Ser2469=)
c.7367C= (p.Ser2456=)
c.7313C= (p.Ser2438=)
c.7217C= (p.Ser2406=)
c.7187C= (p.Ser2396=)
c.7112C= (p.Ser2371=)
c.7010C= (p.Ser2337=)
c.6641C= (p.Ser2214=)
5g.112843084C>GCA16037624APCc.7544C>G (p.Ser2515Trp)
c.*7496C>G (n.*7496C>G)
c.7436C>G (p.Ser2479Trp)
c.7490C>G (p.Ser2497Trp)
c.231-13565C>G
c.7520C>G (p.Ser2507Trp)
c.7415C>G (p.Ser2472Trp)
c.7406C>G (p.Ser2469Trp)
c.7367C>G (p.Ser2456Trp)
c.7313C>G (p.Ser2438Trp)
c.7217C>G (p.Ser2406Trp)
c.7187C>G (p.Ser2396Trp)
c.7112C>G (p.Ser2371Trp)
c.7010C>G (p.Ser2337Trp)
c.6641C>G (p.Ser2214Trp)
ClinVar dbSNP gnomAD v4
5g.112843084C>TCA013717APCc.7544C>T (p.Ser2515Leu)
c.*7496C>T (n.*7496C>T)
c.7436C>T (p.Ser2479Leu)
c.7490C>T (p.Ser2497Leu)
c.231-13565C>T
c.7520C>T (p.Ser2507Leu)
c.7415C>T (p.Ser2472Leu)
c.7406C>T (p.Ser2469Leu)
c.7367C>T (p.Ser2456Leu)
c.7313C>T (p.Ser2438Leu)
c.7217C>T (p.Ser2406Leu)
c.7187C>T (p.Ser2396Leu)
c.7112C>T (p.Ser2371Leu)
c.7010C>T (p.Ser2337Leu)
c.6641C>T (p.Ser2214Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843085G>ACA048237APCc.7545G>A (p.Ser2515=)
c.*7497G>A (n.*7497G>A)
c.7437G>A (p.Ser2479=)
c.7491G>A (p.Ser2497=)
c.231-13564G>A
c.7521G>A (p.Ser2507=)
c.7416G>A (p.Ser2472=)
c.7407G>A (p.Ser2469=)
c.7368G>A (p.Ser2456=)
c.7314G>A (p.Ser2438=)
c.7218G>A (p.Ser2406=)
c.7188G>A (p.Ser2396=)
c.7113G>A (p.Ser2371=)
c.7011G>A (p.Ser2337=)
c.6642G>A (p.Ser2214=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843085G>CCA446210843APCc.7545G>C (p.Ser2515=)
c.*7497G>C (n.*7497G>C)
c.7437G>C (p.Ser2479=)
c.7491G>C (p.Ser2497=)
c.231-13564G>C
c.7521G>C (p.Ser2507=)
c.7416G>C (p.Ser2472=)
c.7407G>C (p.Ser2469=)
c.7368G>C (p.Ser2456=)
c.7314G>C (p.Ser2438=)
c.7218G>C (p.Ser2406=)
c.7188G>C (p.Ser2396=)
c.7113G>C (p.Ser2371=)
c.7011G>C (p.Ser2337=)
c.6642G>C (p.Ser2214=)
ClinVar dbSNP gnomAD v4
5g.112843085G=CA1573471260APCc.7545G= (p.Ser2515=)
c.*7497G= (n.*7497G=)
c.7437G= (p.Ser2479=)
c.7491G= (p.Ser2497=)
c.231-13564G=
c.7521G= (p.Ser2507=)
c.7416G= (p.Ser2472=)
c.7407G= (p.Ser2469=)
c.7368G= (p.Ser2456=)
c.7314G= (p.Ser2438=)
c.7218G= (p.Ser2406=)
c.7188G= (p.Ser2396=)
c.7113G= (p.Ser2371=)
c.7011G= (p.Ser2337=)
c.6642G= (p.Ser2214=)
5g.112843085G>TCA446210844APCc.7545G>T (p.Ser2515=)
c.*7497G>T (n.*7497G>T)
c.7437G>T (p.Ser2479=)
c.7491G>T (p.Ser2497=)
c.231-13564G>T
c.7521G>T (p.Ser2507=)
c.7416G>T (p.Ser2472=)
c.7407G>T (p.Ser2469=)
c.7368G>T (p.Ser2456=)
c.7314G>T (p.Ser2438=)
c.7218G>T (p.Ser2406=)
c.7188G>T (p.Ser2396=)
c.7113G>T (p.Ser2371=)
c.7011G>T (p.Ser2337=)
c.6642G>T (p.Ser2214=)
ClinVar dbSNP gnomAD v4
5g.112843086T>ACA16037625APCc.7546T>A (p.Ser2516Thr)
c.*7498T>A (n.*7498T>A)
c.7438T>A (p.Ser2480Thr)
c.7492T>A (p.Ser2498Thr)
c.231-13563T>A
c.7522T>A (p.Ser2508Thr)
c.7417T>A (p.Ser2473Thr)
c.7408T>A (p.Ser2470Thr)
c.7369T>A (p.Ser2457Thr)
c.7315T>A (p.Ser2439Thr)
c.7219T>A (p.Ser2407Thr)
c.7189T>A (p.Ser2397Thr)
c.7114T>A (p.Ser2372Thr)
c.7012T>A (p.Ser2338Thr)
c.6643T>A (p.Ser2215Thr)
dbSNP
5g.112843086T>CCA16037626APCc.7546T>C (p.Ser2516Pro)
c.*7498T>C (n.*7498T>C)
c.7438T>C (p.Ser2480Pro)
c.7492T>C (p.Ser2498Pro)
c.231-13563T>C
c.7522T>C (p.Ser2508Pro)
c.7417T>C (p.Ser2473Pro)
c.7408T>C (p.Ser2470Pro)
c.7369T>C (p.Ser2457Pro)
c.7315T>C (p.Ser2439Pro)
c.7219T>C (p.Ser2407Pro)
c.7189T>C (p.Ser2397Pro)
c.7114T>C (p.Ser2372Pro)
c.7012T>C (p.Ser2338Pro)
c.6643T>C (p.Ser2215Pro)
ClinVar dbSNP gnomAD v4
5g.112843086T>GCA16037627APCc.7546T>G (p.Ser2516Ala)
c.*7498T>G (n.*7498T>G)
c.7438T>G (p.Ser2480Ala)
c.7492T>G (p.Ser2498Ala)
c.231-13563T>G
c.7522T>G (p.Ser2508Ala)
c.7417T>G (p.Ser2473Ala)
c.7408T>G (p.Ser2470Ala)
c.7369T>G (p.Ser2457Ala)
c.7315T>G (p.Ser2439Ala)
c.7219T>G (p.Ser2407Ala)
c.7189T>G (p.Ser2397Ala)
c.7114T>G (p.Ser2372Ala)
c.7012T>G (p.Ser2338Ala)
c.6643T>G (p.Ser2215Ala)
5g.112843086T=CA1573471280APCc.7546T= (p.Ser2516=)
c.*7498T= (n.*7498T=)
c.7438T= (p.Ser2480=)
c.7492T= (p.Ser2498=)
c.231-13563T=
c.7522T= (p.Ser2508=)
c.7417T= (p.Ser2473=)
c.7408T= (p.Ser2470=)
c.7369T= (p.Ser2457=)
c.7315T= (p.Ser2439=)
c.7219T= (p.Ser2407=)
c.7189T= (p.Ser2397=)
c.7114T= (p.Ser2372=)
c.7012T= (p.Ser2338=)
c.6643T= (p.Ser2215=)
5g.112843087C>ACA16037628APCc.7547C>A (p.Ser2516Tyr)
c.*7499C>A (n.*7499C>A)
c.7439C>A (p.Ser2480Tyr)
c.7493C>A (p.Ser2498Tyr)
c.231-13562C>A
c.7523C>A (p.Ser2508Tyr)
c.7418C>A (p.Ser2473Tyr)
c.7409C>A (p.Ser2470Tyr)
c.7370C>A (p.Ser2457Tyr)
c.7316C>A (p.Ser2439Tyr)
c.7220C>A (p.Ser2407Tyr)
c.7190C>A (p.Ser2397Tyr)
c.7115C>A (p.Ser2372Tyr)
c.7013C>A (p.Ser2338Tyr)
c.6644C>A (p.Ser2215Tyr)
dbSNP
5g.112843087C=CA1573471289APCc.7547C= (p.Ser2516=)
c.*7499C= (n.*7499C=)
c.7439C= (p.Ser2480=)
c.7493C= (p.Ser2498=)
c.231-13562C=
c.7523C= (p.Ser2508=)
c.7418C= (p.Ser2473=)
c.7409C= (p.Ser2470=)
c.7370C= (p.Ser2457=)
c.7316C= (p.Ser2439=)
c.7220C= (p.Ser2407=)
c.7190C= (p.Ser2397=)
c.7115C= (p.Ser2372=)
c.7013C= (p.Ser2338=)
c.6644C= (p.Ser2215=)
5g.112843087C>GCA16037629APCc.7547C>G (p.Ser2516Cys)
c.*7499C>G (n.*7499C>G)
c.7439C>G (p.Ser2480Cys)
c.7493C>G (p.Ser2498Cys)
c.231-13562C>G
c.7523C>G (p.Ser2508Cys)
c.7418C>G (p.Ser2473Cys)
c.7409C>G (p.Ser2470Cys)
c.7370C>G (p.Ser2457Cys)
c.7316C>G (p.Ser2439Cys)
c.7220C>G (p.Ser2407Cys)
c.7190C>G (p.Ser2397Cys)
c.7115C>G (p.Ser2372Cys)
c.7013C>G (p.Ser2338Cys)
c.6644C>G (p.Ser2215Cys)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843087C>TCA16037630APCc.7547C>T (p.Ser2516Phe)
c.*7499C>T (n.*7499C>T)
c.7439C>T (p.Ser2480Phe)
c.7493C>T (p.Ser2498Phe)
c.231-13562C>T
c.7523C>T (p.Ser2508Phe)
c.7418C>T (p.Ser2473Phe)
c.7409C>T (p.Ser2470Phe)
c.7370C>T (p.Ser2457Phe)
c.7316C>T (p.Ser2439Phe)
c.7220C>T (p.Ser2407Phe)
c.7190C>T (p.Ser2397Phe)
c.7115C>T (p.Ser2372Phe)
c.7013C>T (p.Ser2338Phe)
c.6644C>T (p.Ser2215Phe)
ClinVar dbSNP gnomAD v4
5g.112843088T>ACA446210848APCc.7548T>A (p.Ser2516=)
c.*7500T>A (n.*7500T>A)
c.7440T>A (p.Ser2480=)
c.7494T>A (p.Ser2498=)
c.231-13561T>A
c.7524T>A (p.Ser2508=)
c.7419T>A (p.Ser2473=)
c.7410T>A (p.Ser2470=)
c.7371T>A (p.Ser2457=)
c.7317T>A (p.Ser2439=)
c.7221T>A (p.Ser2407=)
c.7191T>A (p.Ser2397=)
c.7116T>A (p.Ser2372=)
c.7014T>A (p.Ser2338=)
c.6645T>A (p.Ser2215=)
ClinVar dbSNP
5g.112843088T>CCA446210850APCc.7548T>C (p.Ser2516=)
c.*7500T>C (n.*7500T>C)
c.7440T>C (p.Ser2480=)
c.7494T>C (p.Ser2498=)
c.231-13561T>C
c.7524T>C (p.Ser2508=)
c.7419T>C (p.Ser2473=)
c.7410T>C (p.Ser2470=)
c.7371T>C (p.Ser2457=)
c.7317T>C (p.Ser2439=)
c.7221T>C (p.Ser2407=)
c.7191T>C (p.Ser2397=)
c.7116T>C (p.Ser2372=)
c.7014T>C (p.Ser2338=)
c.6645T>C (p.Ser2215=)
5g.112843088T>GCA446210851APCc.7548T>G (p.Ser2516=)
c.*7500T>G (n.*7500T>G)
c.7440T>G (p.Ser2480=)
c.7494T>G (p.Ser2498=)
c.231-13561T>G
c.7524T>G (p.Ser2508=)
c.7419T>G (p.Ser2473=)
c.7410T>G (p.Ser2470=)
c.7371T>G (p.Ser2457=)
c.7317T>G (p.Ser2439=)
c.7221T>G (p.Ser2407=)
c.7191T>G (p.Ser2397=)
c.7116T>G (p.Ser2372=)
c.7014T>G (p.Ser2338=)
c.6645T>G (p.Ser2215=)
dbSNP
5g.112843089G>ACA16037631APCc.7549G>A (p.Val2517Ile)
c.*7501G>A (n.*7501G>A)
c.7441G>A (p.Val2481Ile)
c.7495G>A (p.Val2499Ile)
c.231-13560G>A
c.7525G>A (p.Val2509Ile)
c.7420G>A (p.Val2474Ile)
c.7411G>A (p.Val2471Ile)
c.7372G>A (p.Val2458Ile)
c.7318G>A (p.Val2440Ile)
c.7222G>A (p.Val2408Ile)
c.7192G>A (p.Val2398Ile)
c.7117G>A (p.Val2373Ile)
c.7015G>A (p.Val2339Ile)
c.6646G>A (p.Val2216Ile)
ClinVar dbSNP
5g.112843089G>CCA10578444APCc.7549G>C (p.Val2517Leu)
c.*7501G>C (n.*7501G>C)
c.7441G>C (p.Val2481Leu)
c.7495G>C (p.Val2499Leu)
c.231-13560G>C
c.7525G>C (p.Val2509Leu)
c.7420G>C (p.Val2474Leu)
c.7411G>C (p.Val2471Leu)
c.7372G>C (p.Val2458Leu)
c.7318G>C (p.Val2440Leu)
c.7222G>C (p.Val2408Leu)
c.7192G>C (p.Val2398Leu)
c.7117G>C (p.Val2373Leu)
c.7015G>C (p.Val2339Leu)
c.6646G>C (p.Val2216Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843089G=CA1573471297APCc.7549G= (p.Val2517=)
c.*7501G= (n.*7501G=)
c.7441G= (p.Val2481=)
c.7495G= (p.Val2499=)
c.231-13560G=
c.7525G= (p.Val2509=)
c.7420G= (p.Val2474=)
c.7411G= (p.Val2471=)
c.7372G= (p.Val2458=)
c.7318G= (p.Val2440=)
c.7222G= (p.Val2408=)
c.7192G= (p.Val2398=)
c.7117G= (p.Val2373=)
c.7015G= (p.Val2339=)
c.6646G= (p.Val2216=)
5g.112843089G>TCA16037632APCc.7549G>T (p.Val2517Phe)
c.*7501G>T (n.*7501G>T)
c.7441G>T (p.Val2481Phe)
c.7495G>T (p.Val2499Phe)
c.231-13560G>T
c.7525G>T (p.Val2509Phe)
c.7420G>T (p.Val2474Phe)
c.7411G>T (p.Val2471Phe)
c.7372G>T (p.Val2458Phe)
c.7318G>T (p.Val2440Phe)
c.7222G>T (p.Val2408Phe)
c.7192G>T (p.Val2398Phe)
c.7117G>T (p.Val2373Phe)
c.7015G>T (p.Val2339Phe)
c.6646G>T (p.Val2216Phe)
5g.112843090T>ACA16037633APCc.7550T>A (p.Val2517Asp)
c.*7502T>A (n.*7502T>A)
c.7442T>A (p.Val2481Asp)
c.7496T>A (p.Val2499Asp)
c.231-13559T>A
c.7526T>A (p.Val2509Asp)
c.7421T>A (p.Val2474Asp)
c.7412T>A (p.Val2471Asp)
c.7373T>A (p.Val2458Asp)
c.7319T>A (p.Val2440Asp)
c.7223T>A (p.Val2408Asp)
c.7193T>A (p.Val2398Asp)
c.7118T>A (p.Val2373Asp)
c.7016T>A (p.Val2339Asp)
c.6647T>A (p.Val2216Asp)
dbSNP
5g.112843090T>CCA16037634APCc.7550T>C (p.Val2517Ala)
c.*7502T>C (n.*7502T>C)
c.7442T>C (p.Val2481Ala)
c.7496T>C (p.Val2499Ala)
c.231-13559T>C
c.7526T>C (p.Val2509Ala)
c.7421T>C (p.Val2474Ala)
c.7412T>C (p.Val2471Ala)
c.7373T>C (p.Val2458Ala)
c.7319T>C (p.Val2440Ala)
c.7223T>C (p.Val2408Ala)
c.7193T>C (p.Val2398Ala)
c.7118T>C (p.Val2373Ala)
c.7016T>C (p.Val2339Ala)
c.6647T>C (p.Val2216Ala)
ClinVar dbSNP
5g.112843090T>GCA16037635APCc.7550T>G (p.Val2517Gly)
c.*7502T>G (n.*7502T>G)
c.7442T>G (p.Val2481Gly)
c.7496T>G (p.Val2499Gly)
c.231-13559T>G
c.7526T>G (p.Val2509Gly)
c.7421T>G (p.Val2474Gly)
c.7412T>G (p.Val2471Gly)
c.7373T>G (p.Val2458Gly)
c.7319T>G (p.Val2440Gly)
c.7223T>G (p.Val2408Gly)
c.7193T>G (p.Val2398Gly)
c.7118T>G (p.Val2373Gly)
c.7016T>G (p.Val2339Gly)
c.6647T>G (p.Val2216Gly)
dbSNP
5g.112843091T>ACA446210855APCc.7551T>A (p.Val2517=)
c.*7503T>A (n.*7503T>A)
c.7443T>A (p.Val2481=)
c.7497T>A (p.Val2499=)
c.231-13558T>A
c.7527T>A (p.Val2509=)
c.7422T>A (p.Val2474=)
c.7413T>A (p.Val2471=)
c.7374T>A (p.Val2458=)
c.7320T>A (p.Val2440=)
c.7224T>A (p.Val2408=)
c.7194T>A (p.Val2398=)
c.7119T>A (p.Val2373=)
c.7017T>A (p.Val2339=)
c.6648T>A (p.Val2216=)
dbSNP
5g.112843091T>CCA446210853APCc.7551T>C (p.Val2517=)
c.*7503T>C (n.*7503T>C)
c.7443T>C (p.Val2481=)
c.7497T>C (p.Val2499=)
c.231-13558T>C
c.7527T>C (p.Val2509=)
c.7422T>C (p.Val2474=)
c.7413T>C (p.Val2471=)
c.7374T>C (p.Val2458=)
c.7320T>C (p.Val2440=)
c.7224T>C (p.Val2408=)
c.7194T>C (p.Val2398=)
c.7119T>C (p.Val2373=)
c.7017T>C (p.Val2339=)
c.6648T>C (p.Val2216=)
ClinVar dbSNP
5g.112843091T>GCA446210854APCc.7551T>G (p.Val2517=)
c.*7503T>G (n.*7503T>G)
c.7443T>G (p.Val2481=)
c.7497T>G (p.Val2499=)
c.231-13558T>G
c.7527T>G (p.Val2509=)
c.7422T>G (p.Val2474=)
c.7413T>G (p.Val2471=)
c.7374T>G (p.Val2458=)
c.7320T>G (p.Val2440=)
c.7224T>G (p.Val2408=)
c.7194T>G (p.Val2398=)
c.7119T>G (p.Val2373=)
c.7017T>G (p.Val2339=)
c.6648T>G (p.Val2216=)
dbSNP
5g.112843091T=CA1573471312APCc.7551T= (p.Val2517=)
c.*7503T= (n.*7503T=)
c.7443T= (p.Val2481=)
c.7497T= (p.Val2499=)
c.231-13558T=
c.7527T= (p.Val2509=)
c.7422T= (p.Val2474=)
c.7413T= (p.Val2471=)
c.7374T= (p.Val2458=)
c.7320T= (p.Val2440=)
c.7224T= (p.Val2408=)
c.7194T= (p.Val2398=)
c.7119T= (p.Val2373=)
c.7017T= (p.Val2339=)
c.6648T= (p.Val2216=)
5g.112843092C>ACA16037636APCc.7552C>A (p.Gln2518Lys)
c.*7504C>A (n.*7504C>A)
c.7444C>A (p.Gln2482Lys)
c.7498C>A (p.Gln2500Lys)
c.231-13557C>A
c.7528C>A (p.Gln2510Lys)
c.7423C>A (p.Gln2475Lys)
c.7414C>A (p.Gln2472Lys)
c.7375C>A (p.Gln2459Lys)
c.7321C>A (p.Gln2441Lys)
c.7225C>A (p.Gln2409Lys)
c.7195C>A (p.Gln2399Lys)
c.7120C>A (p.Gln2374Lys)
c.7018C>A (p.Gln2340Lys)
c.6649C>A (p.Gln2217Lys)
ClinVar dbSNP gnomAD v4
5g.112843092C=CA1573471323APCc.7552C= (p.Gln2518=)
c.*7504C= (n.*7504C=)
c.7444C= (p.Gln2482=)
c.7498C= (p.Gln2500=)
c.231-13557C=
c.7528C= (p.Gln2510=)
c.7423C= (p.Gln2475=)
c.7414C= (p.Gln2472=)
c.7375C= (p.Gln2459=)
c.7321C= (p.Gln2441=)
c.7225C= (p.Gln2409=)
c.7195C= (p.Gln2399=)
c.7120C= (p.Gln2374=)
c.7018C= (p.Gln2340=)
c.6649C= (p.Gln2217=)
5g.112843092C>GCA048251APCc.7552C>G (p.Gln2518Glu)
c.*7504C>G (n.*7504C>G)
c.7444C>G (p.Gln2482Glu)
c.7498C>G (p.Gln2500Glu)
c.231-13557C>G
c.7528C>G (p.Gln2510Glu)
c.7423C>G (p.Gln2475Glu)
c.7414C>G (p.Gln2472Glu)
c.7375C>G (p.Gln2459Glu)
c.7321C>G (p.Gln2441Glu)
c.7225C>G (p.Gln2409Glu)
c.7195C>G (p.Gln2399Glu)
c.7120C>G (p.Gln2374Glu)
c.7018C>G (p.Gln2340Glu)
c.6649C>G (p.Gln2217Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843092C>TCA16037637APCc.7552C>T (p.Gln2518Ter)
c.*7504C>T (n.*7504C>T)
c.7444C>T (p.Gln2482Ter)
c.7498C>T (p.Gln2500Ter)
c.231-13557C>T
c.7528C>T (p.Gln2510Ter)
c.7423C>T (p.Gln2475Ter)
c.7414C>T (p.Gln2472Ter)
c.7375C>T (p.Gln2459Ter)
c.7321C>T (p.Gln2441Ter)
c.7225C>T (p.Gln2409Ter)
c.7195C>T (p.Gln2399Ter)
c.7120C>T (p.Gln2374Ter)
c.7018C>T (p.Gln2340Ter)
c.6649C>T (p.Gln2217Ter)
ClinVar dbSNP
5g.112843093delCA2674869224APCc.7553del (p.Gln2518ArgfsTer16)
c.*7505del (n.*7505del)
c.7445del (p.Gln2482ArgfsTer16)
c.7499del (p.Gln2500ArgfsTer16)
c.231-13556del
c.7529del (p.Gln2510ArgfsTer16)
c.7424del (p.Gln2475ArgfsTer16)
c.7415del (p.Gln2472ArgfsTer16)
c.7376del (p.Gln2459ArgfsTer16)
c.7322del (p.Gln2441ArgfsTer16)
c.7226del (p.Gln2409ArgfsTer16)
c.7196del (p.Gln2399ArgfsTer16)
c.7121del (p.Gln2374ArgfsTer16)
c.7019del (p.Gln2340ArgfsTer16)
c.6650del (p.Gln2217ArgfsTer16)
gnomAD v4
5g.112843093A=CA1573471336APCc.7553A= (p.Gln2518=)
c.*7505A= (n.*7505A=)
c.7445A= (p.Gln2482=)
c.7499A= (p.Gln2500=)
c.231-13556A=
c.7529A= (p.Gln2510=)
c.7424A= (p.Gln2475=)
c.7415A= (p.Gln2472=)
c.7376A= (p.Gln2459=)
c.7322A= (p.Gln2441=)
c.7226A= (p.Gln2409=)
c.7196A= (p.Gln2399=)
c.7121A= (p.Gln2374=)
c.7019A= (p.Gln2340=)
c.6650A= (p.Gln2217=)
5g.112843093A>CCA16037638APCc.7553A>C (p.Gln2518Pro)
c.*7505A>C (n.*7505A>C)
c.7445A>C (p.Gln2482Pro)
c.7499A>C (p.Gln2500Pro)
c.231-13556A>C
c.7529A>C (p.Gln2510Pro)
c.7424A>C (p.Gln2475Pro)
c.7415A>C (p.Gln2472Pro)
c.7376A>C (p.Gln2459Pro)
c.7322A>C (p.Gln2441Pro)
c.7226A>C (p.Gln2409Pro)
c.7196A>C (p.Gln2399Pro)
c.7121A>C (p.Gln2374Pro)
c.7019A>C (p.Gln2340Pro)
c.6650A>C (p.Gln2217Pro)
5g.112843093A>GCA16037639APCc.7553A>G (p.Gln2518Arg)
c.*7505A>G (n.*7505A>G)
c.7445A>G (p.Gln2482Arg)
c.7499A>G (p.Gln2500Arg)
c.231-13556A>G
c.7529A>G (p.Gln2510Arg)
c.7424A>G (p.Gln2475Arg)
c.7415A>G (p.Gln2472Arg)
c.7376A>G (p.Gln2459Arg)
c.7322A>G (p.Gln2441Arg)
c.7226A>G (p.Gln2409Arg)
c.7196A>G (p.Gln2399Arg)
c.7121A>G (p.Gln2374Arg)
c.7019A>G (p.Gln2340Arg)
c.6650A>G (p.Gln2217Arg)
ClinVar dbSNP
5g.112843093A>TCA16037640APCc.7553A>T (p.Gln2518Leu)
c.*7505A>T (n.*7505A>T)
c.7445A>T (p.Gln2482Leu)
c.7499A>T (p.Gln2500Leu)
c.231-13556A>T
c.7529A>T (p.Gln2510Leu)
c.7424A>T (p.Gln2475Leu)
c.7415A>T (p.Gln2472Leu)
c.7376A>T (p.Gln2459Leu)
c.7322A>T (p.Gln2441Leu)
c.7226A>T (p.Gln2409Leu)
c.7196A>T (p.Gln2399Leu)
c.7121A>T (p.Gln2374Leu)
c.7019A>T (p.Gln2340Leu)
c.6650A>T (p.Gln2217Leu)
dbSNP
5g.112843094G>ACA446210856APCc.7554G>A (p.Gln2518=)
c.*7506G>A (n.*7506G>A)
c.7446G>A (p.Gln2482=)
c.7500G>A (p.Gln2500=)
c.231-13555G>A
c.7530G>A (p.Gln2510=)
c.7425G>A (p.Gln2475=)
c.7416G>A (p.Gln2472=)
c.7377G>A (p.Gln2459=)
c.7323G>A (p.Gln2441=)
c.7227G>A (p.Gln2409=)
c.7197G>A (p.Gln2399=)
c.7122G>A (p.Gln2374=)
c.7020G>A (p.Gln2340=)
c.6651G>A (p.Gln2217=)
ClinVar dbSNP
5g.112843094G>CCA16037641APCc.7554G>C (p.Gln2518His)
c.*7506G>C (n.*7506G>C)
c.7446G>C (p.Gln2482His)
c.7500G>C (p.Gln2500His)
c.231-13555G>C
c.7530G>C (p.Gln2510His)
c.7425G>C (p.Gln2475His)
c.7416G>C (p.Gln2472His)
c.7377G>C (p.Gln2459His)
c.7323G>C (p.Gln2441His)
c.7227G>C (p.Gln2409His)
c.7197G>C (p.Gln2399His)
c.7122G>C (p.Gln2374His)
c.7020G>C (p.Gln2340His)
c.6651G>C (p.Gln2217His)
ClinVar dbSNP
5g.112843094G=CA1573471339APCc.7554G= (p.Gln2518=)
c.*7506G= (n.*7506G=)
c.7446G= (p.Gln2482=)
c.7500G= (p.Gln2500=)
c.231-13555G=
c.7530G= (p.Gln2510=)
c.7425G= (p.Gln2475=)
c.7416G= (p.Gln2472=)
c.7377G= (p.Gln2459=)
c.7323G= (p.Gln2441=)
c.7227G= (p.Gln2409=)
c.7197G= (p.Gln2399=)
c.7122G= (p.Gln2374=)
c.7020G= (p.Gln2340=)
c.6651G= (p.Gln2217=)
5g.112843094G>TCA16037642APCc.7554G>T (p.Gln2518His)
c.*7506G>T (n.*7506G>T)
c.7446G>T (p.Gln2482His)
c.7500G>T (p.Gln2500His)
c.231-13555G>T
c.7530G>T (p.Gln2510His)
c.7425G>T (p.Gln2475His)
c.7416G>T (p.Gln2472His)
c.7377G>T (p.Gln2459His)
c.7323G>T (p.Gln2441His)
c.7227G>T (p.Gln2409His)
c.7197G>T (p.Gln2399His)
c.7122G>T (p.Gln2374His)
c.7020G>T (p.Gln2340His)
c.6651G>T (p.Gln2217His)
ClinVar dbSNP gnomAD v4
5g.112843095G>ACA16037643APCc.7555G>A (p.Ala2519Thr)
c.*7507G>A (n.*7507G>A)
c.7447G>A (p.Ala2483Thr)
c.7501G>A (p.Ala2501Thr)
c.231-13554G>A
c.7531G>A (p.Ala2511Thr)
c.7426G>A (p.Ala2476Thr)
c.7417G>A (p.Ala2473Thr)
c.7378G>A (p.Ala2460Thr)
c.7324G>A (p.Ala2442Thr)
c.7228G>A (p.Ala2410Thr)
c.7198G>A (p.Ala2400Thr)
c.7123G>A (p.Ala2375Thr)
c.7021G>A (p.Ala2341Thr)
c.6652G>A (p.Ala2218Thr)
dbSNP
5g.112843095G>CCA16037644APCc.7555G>C (p.Ala2519Pro)
c.*7507G>C (n.*7507G>C)
c.7447G>C (p.Ala2483Pro)
c.7501G>C (p.Ala2501Pro)
c.231-13554G>C
c.7531G>C (p.Ala2511Pro)
c.7426G>C (p.Ala2476Pro)
c.7417G>C (p.Ala2473Pro)
c.7378G>C (p.Ala2460Pro)
c.7324G>C (p.Ala2442Pro)
c.7228G>C (p.Ala2410Pro)
c.7198G>C (p.Ala2400Pro)
c.7123G>C (p.Ala2375Pro)
c.7021G>C (p.Ala2341Pro)
c.6652G>C (p.Ala2218Pro)
dbSNP
5g.112843095G>TCA16037645APCc.7555G>T (p.Ala2519Ser)
c.*7507G>T (n.*7507G>T)
c.7447G>T (p.Ala2483Ser)
c.7501G>T (p.Ala2501Ser)
c.231-13554G>T
c.7531G>T (p.Ala2511Ser)
c.7426G>T (p.Ala2476Ser)
c.7417G>T (p.Ala2473Ser)
c.7378G>T (p.Ala2460Ser)
c.7324G>T (p.Ala2442Ser)
c.7228G>T (p.Ala2410Ser)
c.7198G>T (p.Ala2400Ser)
c.7123G>T (p.Ala2375Ser)
c.7021G>T (p.Ala2341Ser)
c.6652G>T (p.Ala2218Ser)
ClinVar dbSNP
5g.112843096C>ACA16037646APCc.7556C>A (p.Ala2519Asp)
c.*7508C>A (n.*7508C>A)
c.7448C>A (p.Ala2483Asp)
c.7502C>A (p.Ala2501Asp)
c.231-13553C>A
c.7532C>A (p.Ala2511Asp)
c.7427C>A (p.Ala2476Asp)
c.7418C>A (p.Ala2473Asp)
c.7379C>A (p.Ala2460Asp)
c.7325C>A (p.Ala2442Asp)
c.7229C>A (p.Ala2410Asp)
c.7199C>A (p.Ala2400Asp)
c.7124C>A (p.Ala2375Asp)
c.7022C>A (p.Ala2341Asp)
c.6653C>A (p.Ala2218Asp)
ClinVar dbSNP
5g.112843096C>GCA16037647APCc.7556C>G (p.Ala2519Gly)
c.*7508C>G (n.*7508C>G)
c.7448C>G (p.Ala2483Gly)
c.7502C>G (p.Ala2501Gly)
c.231-13553C>G
c.7532C>G (p.Ala2511Gly)
c.7427C>G (p.Ala2476Gly)
c.7418C>G (p.Ala2473Gly)
c.7379C>G (p.Ala2460Gly)
c.7325C>G (p.Ala2442Gly)
c.7229C>G (p.Ala2410Gly)
c.7199C>G (p.Ala2400Gly)
c.7124C>G (p.Ala2375Gly)
c.7022C>G (p.Ala2341Gly)
c.6653C>G (p.Ala2218Gly)
ClinVar dbSNP
5g.112843096C>TCA16037648APCc.7556C>T (p.Ala2519Val)
c.*7508C>T (n.*7508C>T)
c.7448C>T (p.Ala2483Val)
c.7502C>T (p.Ala2501Val)
c.231-13553C>T
c.7532C>T (p.Ala2511Val)
c.7427C>T (p.Ala2476Val)
c.7418C>T (p.Ala2473Val)
c.7379C>T (p.Ala2460Val)
c.7325C>T (p.Ala2442Val)
c.7229C>T (p.Ala2410Val)
c.7199C>T (p.Ala2400Val)
c.7124C>T (p.Ala2375Val)
c.7022C>T (p.Ala2341Val)
c.6653C>T (p.Ala2218Val)
ClinVar dbSNP gnomAD v4
5g.112843097T>ACA446210857APCc.7557T>A (p.Ala2519=)
c.*7509T>A (n.*7509T>A)
c.7449T>A (p.Ala2483=)
c.7503T>A (p.Ala2501=)
c.231-13552T>A
c.7533T>A (p.Ala2511=)
c.7428T>A (p.Ala2476=)
c.7419T>A (p.Ala2473=)
c.7380T>A (p.Ala2460=)
c.7326T>A (p.Ala2442=)
c.7230T>A (p.Ala2410=)
c.7200T>A (p.Ala2400=)
c.7125T>A (p.Ala2375=)
c.7023T>A (p.Ala2341=)
c.6654T>A (p.Ala2218=)
5g.112843097T>CCA446210858APCc.7557T>C (p.Ala2519=)
c.*7509T>C (n.*7509T>C)
c.7449T>C (p.Ala2483=)
c.7503T>C (p.Ala2501=)
c.231-13552T>C
c.7533T>C (p.Ala2511=)
c.7428T>C (p.Ala2476=)
c.7419T>C (p.Ala2473=)
c.7380T>C (p.Ala2460=)
c.7326T>C (p.Ala2442=)
c.7230T>C (p.Ala2410=)
c.7200T>C (p.Ala2400=)
c.7125T>C (p.Ala2375=)
c.7023T>C (p.Ala2341=)
c.6654T>C (p.Ala2218=)
5g.112843097T>GCA446210859APCc.7557T>G (p.Ala2519=)
c.*7509T>G (n.*7509T>G)
c.7449T>G (p.Ala2483=)
c.7503T>G (p.Ala2501=)
c.231-13552T>G
c.7533T>G (p.Ala2511=)
c.7428T>G (p.Ala2476=)
c.7419T>G (p.Ala2473=)
c.7380T>G (p.Ala2460=)
c.7326T>G (p.Ala2442=)
c.7230T>G (p.Ala2410=)
c.7200T>G (p.Ala2400=)
c.7125T>G (p.Ala2375=)
c.7023T>G (p.Ala2341=)
c.6654T>G (p.Ala2218=)
5g.112843098G>ACA013731APCc.7558G>A (p.Gly2520Ser)
c.*7510G>A (n.*7510G>A)
c.7450G>A (p.Gly2484Ser)
c.7504G>A (p.Gly2502Ser)
c.231-13551G>A
c.7534G>A (p.Gly2512Ser)
c.7429G>A (p.Gly2477Ser)
c.7420G>A (p.Gly2474Ser)
c.7381G>A (p.Gly2461Ser)
c.7327G>A (p.Gly2443Ser)
c.7231G>A (p.Gly2411Ser)
c.7201G>A (p.Gly2401Ser)
c.7126G>A (p.Gly2376Ser)
c.7024G>A (p.Gly2342Ser)
c.6655G>A (p.Gly2219Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843098G>CCA16037649APCc.7558G>C (p.Gly2520Arg)
c.*7510G>C (n.*7510G>C)
c.7450G>C (p.Gly2484Arg)
c.7504G>C (p.Gly2502Arg)
c.231-13551G>C
c.7534G>C (p.Gly2512Arg)
c.7429G>C (p.Gly2477Arg)
c.7420G>C (p.Gly2474Arg)
c.7381G>C (p.Gly2461Arg)
c.7327G>C (p.Gly2443Arg)
c.7231G>C (p.Gly2411Arg)
c.7201G>C (p.Gly2401Arg)
c.7126G>C (p.Gly2376Arg)
c.7024G>C (p.Gly2342Arg)
c.6655G>C (p.Gly2219Arg)
dbSNP
5g.112843098G=CA1573471352APCc.7558G= (p.Gly2520=)
c.*7510G= (n.*7510G=)
c.7450G= (p.Gly2484=)
c.7504G= (p.Gly2502=)
c.231-13551G=
c.7534G= (p.Gly2512=)
c.7429G= (p.Gly2477=)
c.7420G= (p.Gly2474=)
c.7381G= (p.Gly2461=)
c.7327G= (p.Gly2443=)
c.7231G= (p.Gly2411=)
c.7201G= (p.Gly2401=)
c.7126G= (p.Gly2376=)
c.7024G= (p.Gly2342=)
c.6655G= (p.Gly2219=)
5g.112843098G>TCA16037650APCc.7558G>T (p.Gly2520Cys)
c.*7510G>T (n.*7510G>T)
c.7450G>T (p.Gly2484Cys)
c.7504G>T (p.Gly2502Cys)
c.231-13551G>T
c.7534G>T (p.Gly2512Cys)
c.7429G>T (p.Gly2477Cys)
c.7420G>T (p.Gly2474Cys)
c.7381G>T (p.Gly2461Cys)
c.7327G>T (p.Gly2443Cys)
c.7231G>T (p.Gly2411Cys)
c.7201G>T (p.Gly2401Cys)
c.7126G>T (p.Gly2376Cys)
c.7024G>T (p.Gly2342Cys)
c.6655G>T (p.Gly2219Cys)
dbSNP
5g.112843099G>ACA048278APCc.7559G>A (p.Gly2520Asp)
c.*7511G>A (n.*7511G>A)
c.7451G>A (p.Gly2484Asp)
c.7505G>A (p.Gly2502Asp)
c.231-13550G>A
c.7535G>A (p.Gly2512Asp)
c.7430G>A (p.Gly2477Asp)
c.7421G>A (p.Gly2474Asp)
c.7382G>A (p.Gly2461Asp)
c.7328G>A (p.Gly2443Asp)
c.7232G>A (p.Gly2411Asp)
c.7202G>A (p.Gly2401Asp)
c.7127G>A (p.Gly2376Asp)
c.7025G>A (p.Gly2342Asp)
c.6656G>A (p.Gly2219Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843099G>CCA16037651APCc.7559G>C (p.Gly2520Ala)
c.*7511G>C (n.*7511G>C)
c.7451G>C (p.Gly2484Ala)
c.7505G>C (p.Gly2502Ala)
c.231-13550G>C
c.7535G>C (p.Gly2512Ala)
c.7430G>C (p.Gly2477Ala)
c.7421G>C (p.Gly2474Ala)
c.7382G>C (p.Gly2461Ala)
c.7328G>C (p.Gly2443Ala)
c.7232G>C (p.Gly2411Ala)
c.7202G>C (p.Gly2401Ala)
c.7127G>C (p.Gly2376Ala)
c.7025G>C (p.Gly2342Ala)
c.6656G>C (p.Gly2219Ala)
dbSNP gnomAD v4 COSMIC
5g.112843099G=CA1573471365APCc.7559G= (p.Gly2520=)
c.*7511G= (n.*7511G=)
c.7451G= (p.Gly2484=)
c.7505G= (p.Gly2502=)
c.231-13550G=
c.7535G= (p.Gly2512=)
c.7430G= (p.Gly2477=)
c.7421G= (p.Gly2474=)
c.7382G= (p.Gly2461=)
c.7328G= (p.Gly2443=)
c.7232G= (p.Gly2411=)
c.7202G= (p.Gly2401=)
c.7127G= (p.Gly2376=)
c.7025G= (p.Gly2342=)
c.6656G= (p.Gly2219=)
5g.112843099G>TCA16037652APCc.7559G>T (p.Gly2520Val)
c.*7511G>T (n.*7511G>T)
c.7451G>T (p.Gly2484Val)
c.7505G>T (p.Gly2502Val)
c.231-13550G>T
c.7535G>T (p.Gly2512Val)
c.7430G>T (p.Gly2477Val)
c.7421G>T (p.Gly2474Val)
c.7382G>T (p.Gly2461Val)
c.7328G>T (p.Gly2443Val)
c.7232G>T (p.Gly2411Val)
c.7202G>T (p.Gly2401Val)
c.7127G>T (p.Gly2376Val)
c.7025G>T (p.Gly2342Val)
c.6656G>T (p.Gly2219Val)
dbSNP
5g.112843100T>ACA446210860APCc.7560T>A (p.Gly2520=)
c.*7512T>A (n.*7512T>A)
c.7452T>A (p.Gly2484=)
c.7506T>A (p.Gly2502=)
c.231-13549T>A
c.7536T>A (p.Gly2512=)
c.7431T>A (p.Gly2477=)
c.7422T>A (p.Gly2474=)
c.7383T>A (p.Gly2461=)
c.7329T>A (p.Gly2443=)
c.7233T>A (p.Gly2411=)
c.7203T>A (p.Gly2401=)
c.7128T>A (p.Gly2376=)
c.7026T>A (p.Gly2342=)
c.6657T>A (p.Gly2219=)
5g.112843100T>CCA446210861APCc.7560T>C (p.Gly2520=)
c.*7512T>C (n.*7512T>C)
c.7452T>C (p.Gly2484=)
c.7506T>C (p.Gly2502=)
c.231-13549T>C
c.7536T>C (p.Gly2512=)
c.7431T>C (p.Gly2477=)
c.7422T>C (p.Gly2474=)
c.7383T>C (p.Gly2461=)
c.7329T>C (p.Gly2443=)
c.7233T>C (p.Gly2411=)
c.7203T>C (p.Gly2401=)
c.7128T>C (p.Gly2376=)
c.7026T>C (p.Gly2342=)
c.6657T>C (p.Gly2219=)
5g.112843100T>GCA446210862APCc.7560T>G (p.Gly2520=)
c.*7512T>G (n.*7512T>G)
c.7452T>G (p.Gly2484=)
c.7506T>G (p.Gly2502=)
c.231-13549T>G
c.7536T>G (p.Gly2512=)
c.7431T>G (p.Gly2477=)
c.7422T>G (p.Gly2474=)
c.7383T>G (p.Gly2461=)
c.7329T>G (p.Gly2443=)
c.7233T>G (p.Gly2411=)
c.7203T>G (p.Gly2401=)
c.7128T>G (p.Gly2376=)
c.7026T>G (p.Gly2342=)
c.6657T>G (p.Gly2219=)
ClinVar dbSNP
5g.112843101G>ACA16037653APCc.7561G>A (p.Gly2521Arg)
c.*7513G>A (n.*7513G>A)
c.7453G>A (p.Gly2485Arg)
c.7507G>A (p.Gly2503Arg)
c.231-13548G>A
c.7537G>A (p.Gly2513Arg)
c.7432G>A (p.Gly2478Arg)
c.7423G>A (p.Gly2475Arg)
c.7384G>A (p.Gly2462Arg)
c.7330G>A (p.Gly2444Arg)
c.7234G>A (p.Gly2412Arg)
c.7204G>A (p.Gly2402Arg)
c.7129G>A (p.Gly2377Arg)
c.7027G>A (p.Gly2343Arg)
c.6658G>A (p.Gly2220Arg)
COSMIC
5g.112843101G>CCA16037654APCc.7561G>C (p.Gly2521Arg)
c.*7513G>C (n.*7513G>C)
c.7453G>C (p.Gly2485Arg)
c.7507G>C (p.Gly2503Arg)
c.231-13548G>C
c.7537G>C (p.Gly2513Arg)
c.7432G>C (p.Gly2478Arg)
c.7423G>C (p.Gly2475Arg)
c.7384G>C (p.Gly2462Arg)
c.7330G>C (p.Gly2444Arg)
c.7234G>C (p.Gly2412Arg)
c.7204G>C (p.Gly2402Arg)
c.7129G>C (p.Gly2377Arg)
c.7027G>C (p.Gly2343Arg)
c.6658G>C (p.Gly2220Arg)
5g.112843101G>TCA16037655APCc.7561G>T (p.Gly2521Ter)
c.*7513G>T (n.*7513G>T)
c.7453G>T (p.Gly2485Ter)
c.7507G>T (p.Gly2503Ter)
c.231-13548G>T
c.7537G>T (p.Gly2513Ter)
c.7432G>T (p.Gly2478Ter)
c.7423G>T (p.Gly2475Ter)
c.7384G>T (p.Gly2462Ter)
c.7330G>T (p.Gly2444Ter)
c.7234G>T (p.Gly2412Ter)
c.7204G>T (p.Gly2402Ter)
c.7129G>T (p.Gly2377Ter)
c.7027G>T (p.Gly2343Ter)
c.6658G>T (p.Gly2220Ter)
5g.112843102G>ACA048295APCc.7562G>A (p.Gly2521Glu)
c.*7514G>A (n.*7514G>A)
c.7454G>A (p.Gly2485Glu)
c.7508G>A (p.Gly2503Glu)
c.231-13547G>A
c.7538G>A (p.Gly2513Glu)
c.7433G>A (p.Gly2478Glu)
c.7424G>A (p.Gly2475Glu)
c.7385G>A (p.Gly2462Glu)
c.7331G>A (p.Gly2444Glu)
c.7235G>A (p.Gly2412Glu)
c.7205G>A (p.Gly2402Glu)
c.7130G>A (p.Gly2377Glu)
c.7028G>A (p.Gly2343Glu)
c.6659G>A (p.Gly2220Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843102G>CCA16037656APCc.7562G>C (p.Gly2521Ala)
c.*7514G>C (n.*7514G>C)
c.7454G>C (p.Gly2485Ala)
c.7508G>C (p.Gly2503Ala)
c.231-13547G>C
c.7538G>C (p.Gly2513Ala)
c.7433G>C (p.Gly2478Ala)
c.7424G>C (p.Gly2475Ala)
c.7385G>C (p.Gly2462Ala)
c.7331G>C (p.Gly2444Ala)
c.7235G>C (p.Gly2412Ala)
c.7205G>C (p.Gly2402Ala)
c.7130G>C (p.Gly2377Ala)
c.7028G>C (p.Gly2343Ala)
c.6659G>C (p.Gly2220Ala)
dbSNP
5g.112843102G=CA1573471372APCc.7562G= (p.Gly2521=)
c.*7514G= (n.*7514G=)
c.7454G= (p.Gly2485=)
c.7508G= (p.Gly2503=)
c.231-13547G=
c.7538G= (p.Gly2513=)
c.7433G= (p.Gly2478=)
c.7424G= (p.Gly2475=)
c.7385G= (p.Gly2462=)
c.7331G= (p.Gly2444=)
c.7235G= (p.Gly2412=)
c.7205G= (p.Gly2402=)
c.7130G= (p.Gly2377=)
c.7028G= (p.Gly2343=)
c.6659G= (p.Gly2220=)
5g.112843102G>TCA16037657APCc.7562G>T (p.Gly2521Val)
c.*7514G>T (n.*7514G>T)
c.7454G>T (p.Gly2485Val)
c.7508G>T (p.Gly2503Val)
c.231-13547G>T
c.7538G>T (p.Gly2513Val)
c.7433G>T (p.Gly2478Val)
c.7424G>T (p.Gly2475Val)
c.7385G>T (p.Gly2462Val)
c.7331G>T (p.Gly2444Val)
c.7235G>T (p.Gly2412Val)
c.7205G>T (p.Gly2402Val)
c.7130G>T (p.Gly2377Val)
c.7028G>T (p.Gly2343Val)
c.6659G>T (p.Gly2220Val)
dbSNP
5g.112843103A=CA1573471384APCc.7563A= (p.Gly2521=)
c.*7515A= (n.*7515A=)
c.7455A= (p.Gly2485=)
c.7509A= (p.Gly2503=)
c.231-13546A=
c.7539A= (p.Gly2513=)
c.7434A= (p.Gly2478=)
c.7425A= (p.Gly2475=)
c.7386A= (p.Gly2462=)
c.7332A= (p.Gly2444=)
c.7236A= (p.Gly2412=)
c.7206A= (p.Gly2402=)
c.7131A= (p.Gly2377=)
c.7029A= (p.Gly2343=)
c.6660A= (p.Gly2220=)
5g.112843103A>CCA446210863APCc.7563A>C (p.Gly2521=)
c.*7515A>C (n.*7515A>C)
c.7455A>C (p.Gly2485=)
c.7509A>C (p.Gly2503=)
c.231-13546A>C
c.7539A>C (p.Gly2513=)
c.7434A>C (p.Gly2478=)
c.7425A>C (p.Gly2475=)
c.7386A>C (p.Gly2462=)
c.7332A>C (p.Gly2444=)
c.7236A>C (p.Gly2412=)
c.7206A>C (p.Gly2402=)
c.7131A>C (p.Gly2377=)
c.7029A>C (p.Gly2343=)
c.6660A>C (p.Gly2220=)
dbSNP
5g.112843103A>GCA446210864APCc.7563A>G (p.Gly2521=)
c.*7515A>G (n.*7515A>G)
c.7455A>G (p.Gly2485=)
c.7509A>G (p.Gly2503=)
c.231-13546A>G
c.7539A>G (p.Gly2513=)
c.7434A>G (p.Gly2478=)
c.7425A>G (p.Gly2475=)
c.7386A>G (p.Gly2462=)
c.7332A>G (p.Gly2444=)
c.7236A>G (p.Gly2412=)
c.7206A>G (p.Gly2402=)
c.7131A>G (p.Gly2377=)
c.7029A>G (p.Gly2343=)
c.6660A>G (p.Gly2220=)
ClinVar dbSNP gnomAD v4
5g.112843103A>TCA446210865APCc.7563A>T (p.Gly2521=)
c.*7515A>T (n.*7515A>T)
c.7455A>T (p.Gly2485=)
c.7509A>T (p.Gly2503=)
c.231-13546A>T
c.7539A>T (p.Gly2513=)
c.7434A>T (p.Gly2478=)
c.7425A>T (p.Gly2475=)
c.7386A>T (p.Gly2462=)
c.7332A>T (p.Gly2444=)
c.7236A>T (p.Gly2412=)
c.7206A>T (p.Gly2402=)
c.7131A>T (p.Gly2377=)
c.7029A>T (p.Gly2343=)
c.6660A>T (p.Gly2220=)
dbSNP
5g.112843104T>ACA16037658APCc.7564T>A (p.Trp2522Arg)
c.*7516T>A (n.*7516T>A)
c.7456T>A (p.Trp2486Arg)
c.7510T>A (p.Trp2504Arg)
c.231-13545T>A
c.7540T>A (p.Trp2514Arg)
c.7435T>A (p.Trp2479Arg)
c.7426T>A (p.Trp2476Arg)
c.7387T>A (p.Trp2463Arg)
c.7333T>A (p.Trp2445Arg)
c.7237T>A (p.Trp2413Arg)
c.7207T>A (p.Trp2403Arg)
c.7132T>A (p.Trp2378Arg)
c.7030T>A (p.Trp2344Arg)
c.6661T>A (p.Trp2221Arg)
5g.112843104T>CCA16037659APCc.7564T>C (p.Trp2522Arg)
c.*7516T>C (n.*7516T>C)
c.7456T>C (p.Trp2486Arg)
c.7510T>C (p.Trp2504Arg)
c.231-13545T>C
c.7540T>C (p.Trp2514Arg)
c.7435T>C (p.Trp2479Arg)
c.7426T>C (p.Trp2476Arg)
c.7387T>C (p.Trp2463Arg)
c.7333T>C (p.Trp2445Arg)
c.7237T>C (p.Trp2413Arg)
c.7207T>C (p.Trp2403Arg)
c.7132T>C (p.Trp2378Arg)
c.7030T>C (p.Trp2344Arg)
c.6661T>C (p.Trp2221Arg)
5g.112843104T>GCA16037660APCc.7564T>G (p.Trp2522Gly)
c.*7516T>G (n.*7516T>G)
c.7456T>G (p.Trp2486Gly)
c.7510T>G (p.Trp2504Gly)
c.231-13545T>G
c.7540T>G (p.Trp2514Gly)
c.7435T>G (p.Trp2479Gly)
c.7426T>G (p.Trp2476Gly)
c.7387T>G (p.Trp2463Gly)
c.7333T>G (p.Trp2445Gly)
c.7237T>G (p.Trp2413Gly)
c.7207T>G (p.Trp2403Gly)
c.7132T>G (p.Trp2378Gly)
c.7030T>G (p.Trp2344Gly)
c.6661T>G (p.Trp2221Gly)
5g.112843105G>ACA248496APCc.7565G>A (p.Trp2522Ter)
c.*7517G>A (n.*7517G>A)
c.7457G>A (p.Trp2486Ter)
c.7511G>A (p.Trp2504Ter)
c.231-13544G>A
c.7541G>A (p.Trp2514Ter)
c.7436G>A (p.Trp2479Ter)
c.7427G>A (p.Trp2476Ter)
c.7388G>A (p.Trp2463Ter)
c.7334G>A (p.Trp2445Ter)
c.7238G>A (p.Trp2413Ter)
c.7208G>A (p.Trp2403Ter)
c.7133G>A (p.Trp2378Ter)
c.7031G>A (p.Trp2344Ter)
c.6662G>A (p.Trp2221Ter)
ClinVar dbSNP
5g.112843105G>CCA16037661APCc.7565G>C (p.Trp2522Ser)
c.*7517G>C (n.*7517G>C)
c.7457G>C (p.Trp2486Ser)
c.7511G>C (p.Trp2504Ser)
c.231-13544G>C
c.7541G>C (p.Trp2514Ser)
c.7436G>C (p.Trp2479Ser)
c.7427G>C (p.Trp2476Ser)
c.7388G>C (p.Trp2463Ser)
c.7334G>C (p.Trp2445Ser)
c.7238G>C (p.Trp2413Ser)
c.7208G>C (p.Trp2403Ser)
c.7133G>C (p.Trp2378Ser)
c.7031G>C (p.Trp2344Ser)
c.6662G>C (p.Trp2221Ser)
dbSNP gnomAD v4
5g.112843105G=CA1573471389APCc.7565G= (p.Trp2522=)
c.*7517G= (n.*7517G=)
c.7457G= (p.Trp2486=)
c.7511G= (p.Trp2504=)
c.231-13544G=
c.7541G= (p.Trp2514=)
c.7436G= (p.Trp2479=)
c.7427G= (p.Trp2476=)
c.7388G= (p.Trp2463=)
c.7334G= (p.Trp2445=)
c.7238G= (p.Trp2413=)
c.7208G= (p.Trp2403=)
c.7133G= (p.Trp2378=)
c.7031G= (p.Trp2344=)
c.6662G= (p.Trp2221=)
5g.112843105G>TCA16037662APCc.7565G>T (p.Trp2522Leu)
c.*7517G>T (n.*7517G>T)
c.7457G>T (p.Trp2486Leu)
c.7511G>T (p.Trp2504Leu)
c.231-13544G>T
c.7541G>T (p.Trp2514Leu)
c.7436G>T (p.Trp2479Leu)
c.7427G>T (p.Trp2476Leu)
c.7388G>T (p.Trp2463Leu)
c.7334G>T (p.Trp2445Leu)
c.7238G>T (p.Trp2413Leu)
c.7208G>T (p.Trp2403Leu)
c.7133G>T (p.Trp2378Leu)
c.7031G>T (p.Trp2344Leu)
c.6662G>T (p.Trp2221Leu)
dbSNP
5g.112843106G>ACA16037663APCc.7566G>A (p.Trp2522Ter)
c.*7518G>A (n.*7518G>A)
c.7458G>A (p.Trp2486Ter)
c.7512G>A (p.Trp2504Ter)
c.231-13543G>A
c.7542G>A (p.Trp2514Ter)
c.7437G>A (p.Trp2479Ter)
c.7428G>A (p.Trp2476Ter)
c.7389G>A (p.Trp2463Ter)
c.7335G>A (p.Trp2445Ter)
c.7239G>A (p.Trp2413Ter)
c.7209G>A (p.Trp2403Ter)
c.7134G>A (p.Trp2378Ter)
c.7032G>A (p.Trp2344Ter)
c.6663G>A (p.Trp2221Ter)
ClinVar dbSNP
5g.112843106G>CCA16037664APCc.7566G>C (p.Trp2522Cys)
c.*7518G>C (n.*7518G>C)
c.7458G>C (p.Trp2486Cys)
c.7512G>C (p.Trp2504Cys)
c.231-13543G>C
c.7542G>C (p.Trp2514Cys)
c.7437G>C (p.Trp2479Cys)
c.7428G>C (p.Trp2476Cys)
c.7389G>C (p.Trp2463Cys)
c.7335G>C (p.Trp2445Cys)
c.7239G>C (p.Trp2413Cys)
c.7209G>C (p.Trp2403Cys)
c.7134G>C (p.Trp2378Cys)
c.7032G>C (p.Trp2344Cys)
c.6663G>C (p.Trp2221Cys)
dbSNP
5g.112843106G=CA1573471403APCc.7566G= (p.Trp2522=)
c.*7518G= (n.*7518G=)
c.7458G= (p.Trp2486=)
c.7512G= (p.Trp2504=)
c.231-13543G=
c.7542G= (p.Trp2514=)
c.7437G= (p.Trp2479=)
c.7428G= (p.Trp2476=)
c.7389G= (p.Trp2463=)
c.7335G= (p.Trp2445=)
c.7239G= (p.Trp2413=)
c.7209G= (p.Trp2403=)
c.7134G= (p.Trp2378=)
c.7032G= (p.Trp2344=)
c.6663G= (p.Trp2221=)
5g.112843106G>TCA16037665APCc.7566G>T (p.Trp2522Cys)
c.*7518G>T (n.*7518G>T)
c.7458G>T (p.Trp2486Cys)
c.7512G>T (p.Trp2504Cys)
c.231-13543G>T
c.7542G>T (p.Trp2514Cys)
c.7437G>T (p.Trp2479Cys)
c.7428G>T (p.Trp2476Cys)
c.7389G>T (p.Trp2463Cys)
c.7335G>T (p.Trp2445Cys)
c.7239G>T (p.Trp2413Cys)
c.7209G>T (p.Trp2403Cys)
c.7134G>T (p.Trp2378Cys)
c.7032G>T (p.Trp2344Cys)
c.6663G>T (p.Trp2221Cys)
dbSNP
5g.112843107C>ACA446210866APCc.7567C>A (p.Arg2523=)
c.*7519C>A (n.*7519C>A)
c.7459C>A (p.Arg2487=)
c.7513C>A (p.Arg2505=)
c.231-13542C>A
c.7543C>A (p.Arg2515=)
c.7438C>A (p.Arg2480=)
c.7429C>A (p.Arg2477=)
c.7390C>A (p.Arg2464=)
c.7336C>A (p.Arg2446=)
c.7240C>A (p.Arg2414=)
c.7210C>A (p.Arg2404=)
c.7135C>A (p.Arg2379=)
c.7033C>A (p.Arg2345=)
c.6664C>A (p.Arg2222=)
5g.112843107C=CA1573471418APCc.7567C= (p.Arg2523=)
c.*7519C= (n.*7519C=)
c.7459C= (p.Arg2487=)
c.7513C= (p.Arg2505=)
c.231-13542C=
c.7543C= (p.Arg2515=)
c.7438C= (p.Arg2480=)
c.7429C= (p.Arg2477=)
c.7390C= (p.Arg2464=)
c.7336C= (p.Arg2446=)
c.7240C= (p.Arg2414=)
c.7210C= (p.Arg2404=)
c.7135C= (p.Arg2379=)
c.7033C= (p.Arg2345=)
c.6664C= (p.Arg2222=)
5g.112843107C>GCA013742APCc.7567C>G (p.Arg2523Gly)
c.*7519C>G (n.*7519C>G)
c.7459C>G (p.Arg2487Gly)
c.7513C>G (p.Arg2505Gly)
c.231-13542C>G
c.7543C>G (p.Arg2515Gly)
c.7438C>G (p.Arg2480Gly)
c.7429C>G (p.Arg2477Gly)
c.7390C>G (p.Arg2464Gly)
c.7336C>G (p.Arg2446Gly)
c.7240C>G (p.Arg2414Gly)
c.7210C>G (p.Arg2404Gly)
c.7135C>G (p.Arg2379Gly)
c.7033C>G (p.Arg2345Gly)
c.6664C>G (p.Arg2222Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843107C>TCA16037666APCc.7567C>T (p.Arg2523Ter)
c.*7519C>T (n.*7519C>T)
c.7459C>T (p.Arg2487Ter)
c.7513C>T (p.Arg2505Ter)
c.231-13542C>T
c.7543C>T (p.Arg2515Ter)
c.7438C>T (p.Arg2480Ter)
c.7429C>T (p.Arg2477Ter)
c.7390C>T (p.Arg2464Ter)
c.7336C>T (p.Arg2446Ter)
c.7240C>T (p.Arg2414Ter)
c.7210C>T (p.Arg2404Ter)
c.7135C>T (p.Arg2379Ter)
c.7033C>T (p.Arg2345Ter)
c.6664C>T (p.Arg2222Ter)
ClinVar dbSNP gnomAD v4
5g.112843108G>ACA013752APCc.7568G>A (p.Arg2523Gln)
c.*7520G>A (n.*7520G>A)
c.7460G>A (p.Arg2487Gln)
c.7514G>A (p.Arg2505Gln)
c.231-13541G>A
c.7544G>A (p.Arg2515Gln)
c.7439G>A (p.Arg2480Gln)
c.7430G>A (p.Arg2477Gln)
c.7391G>A (p.Arg2464Gln)
c.7337G>A (p.Arg2446Gln)
c.7241G>A (p.Arg2414Gln)
c.7211G>A (p.Arg2404Gln)
c.7136G>A (p.Arg2379Gln)
c.7034G>A (p.Arg2345Gln)
c.6665G>A (p.Arg2222Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843108G>CCA16037667APCc.7568G>C (p.Arg2523Pro)
c.*7520G>C (n.*7520G>C)
c.7460G>C (p.Arg2487Pro)
c.7514G>C (p.Arg2505Pro)
c.231-13541G>C
c.7544G>C (p.Arg2515Pro)
c.7439G>C (p.Arg2480Pro)
c.7430G>C (p.Arg2477Pro)
c.7391G>C (p.Arg2464Pro)
c.7337G>C (p.Arg2446Pro)
c.7241G>C (p.Arg2414Pro)
c.7211G>C (p.Arg2404Pro)
c.7136G>C (p.Arg2379Pro)
c.7034G>C (p.Arg2345Pro)
c.6665G>C (p.Arg2222Pro)
5g.112843108G=CA1573471439APCc.7568G= (p.Arg2523=)
c.*7520G= (n.*7520G=)
c.7460G= (p.Arg2487=)
c.7514G= (p.Arg2505=)
c.231-13541G=
c.7544G= (p.Arg2515=)
c.7439G= (p.Arg2480=)
c.7430G= (p.Arg2477=)
c.7391G= (p.Arg2464=)
c.7337G= (p.Arg2446=)
c.7241G= (p.Arg2414=)
c.7211G= (p.Arg2404=)
c.7136G= (p.Arg2379=)
c.7034G= (p.Arg2345=)
c.6665G= (p.Arg2222=)
5g.112843108G>TCA16037668APCc.7568G>T (p.Arg2523Leu)
c.*7520G>T (n.*7520G>T)
c.7460G>T (p.Arg2487Leu)
c.7514G>T (p.Arg2505Leu)
c.231-13541G>T
c.7544G>T (p.Arg2515Leu)
c.7439G>T (p.Arg2480Leu)
c.7430G>T (p.Arg2477Leu)
c.7391G>T (p.Arg2464Leu)
c.7337G>T (p.Arg2446Leu)
c.7241G>T (p.Arg2414Leu)
c.7211G>T (p.Arg2404Leu)
c.7136G>T (p.Arg2379Leu)
c.7034G>T (p.Arg2345Leu)
c.6665G>T (p.Arg2222Leu)
COSMIC
5g.112843109A=CA1573471445APCc.7569A= (p.Arg2523=)
c.*7521A= (n.*7521A=)
c.7461A= (p.Arg2487=)
c.7515A= (p.Arg2505=)
c.231-13540A=
c.7545A= (p.Arg2515=)
c.7440A= (p.Arg2480=)
c.7431A= (p.Arg2477=)
c.7392A= (p.Arg2464=)
c.7338A= (p.Arg2446=)
c.7242A= (p.Arg2414=)
c.7212A= (p.Arg2404=)
c.7137A= (p.Arg2379=)
c.7035A= (p.Arg2345=)
c.6666A= (p.Arg2222=)
5g.112843109A>CCA446210867APCc.7569A>C (p.Arg2523=)
c.*7521A>C (n.*7521A>C)
c.7461A>C (p.Arg2487=)
c.7515A>C (p.Arg2505=)
c.231-13540A>C
c.7545A>C (p.Arg2515=)
c.7440A>C (p.Arg2480=)
c.7431A>C (p.Arg2477=)
c.7392A>C (p.Arg2464=)
c.7338A>C (p.Arg2446=)
c.7242A>C (p.Arg2414=)
c.7212A>C (p.Arg2404=)
c.7137A>C (p.Arg2379=)
c.7035A>C (p.Arg2345=)
c.6666A>C (p.Arg2222=)
5g.112843109A>GCA446210868APCc.7569A>G (p.Arg2523=)
c.*7521A>G (n.*7521A>G)
c.7461A>G (p.Arg2487=)
c.7515A>G (p.Arg2505=)
c.231-13540A>G
c.7545A>G (p.Arg2515=)
c.7440A>G (p.Arg2480=)
c.7431A>G (p.Arg2477=)
c.7392A>G (p.Arg2464=)
c.7338A>G (p.Arg2446=)
c.7242A>G (p.Arg2414=)
c.7212A>G (p.Arg2404=)
c.7137A>G (p.Arg2379=)
c.7035A>G (p.Arg2345=)
c.6666A>G (p.Arg2222=)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843109A>TCA446210869APCc.7569A>T (p.Arg2523=)
c.*7521A>T (n.*7521A>T)
c.7461A>T (p.Arg2487=)
c.7515A>T (p.Arg2505=)
c.231-13540A>T
c.7545A>T (p.Arg2515=)
c.7440A>T (p.Arg2480=)
c.7431A>T (p.Arg2477=)
c.7392A>T (p.Arg2464=)
c.7338A>T (p.Arg2446=)
c.7242A>T (p.Arg2414=)
c.7212A>T (p.Arg2404=)
c.7137A>T (p.Arg2379=)
c.7035A>T (p.Arg2345=)
c.6666A>T (p.Arg2222=)
dbSNP
5g.112843110A=CA1573471449APCc.7570A= (p.Lys2524=)
c.*7522A= (n.*7522A=)
c.7462A= (p.Lys2488=)
c.7516A= (p.Lys2506=)
c.231-13539A=
c.7546A= (p.Lys2516=)
c.7441A= (p.Lys2481=)
c.7432A= (p.Lys2478=)
c.7393A= (p.Lys2465=)
c.7339A= (p.Lys2447=)
c.7243A= (p.Lys2415=)
c.7213A= (p.Lys2405=)
c.7138A= (p.Lys2380=)
c.7036A= (p.Lys2346=)
c.6667A= (p.Lys2223=)
5g.112843110A>CCA16037669APCc.7570A>C (p.Lys2524Gln)
c.*7522A>C (n.*7522A>C)
c.7462A>C (p.Lys2488Gln)
c.7516A>C (p.Lys2506Gln)
c.231-13539A>C
c.7546A>C (p.Lys2516Gln)
c.7441A>C (p.Lys2481Gln)
c.7432A>C (p.Lys2478Gln)
c.7393A>C (p.Lys2465Gln)
c.7339A>C (p.Lys2447Gln)
c.7243A>C (p.Lys2415Gln)
c.7213A>C (p.Lys2405Gln)
c.7138A>C (p.Lys2380Gln)
c.7036A>C (p.Lys2346Gln)
c.6667A>C (p.Lys2223Gln)
ClinVar dbSNP gnomAD v4
5g.112843110A>GCA16037670APCc.7570A>G (p.Lys2524Glu)
c.*7522A>G (n.*7522A>G)
c.7462A>G (p.Lys2488Glu)
c.7516A>G (p.Lys2506Glu)
c.231-13539A>G
c.7546A>G (p.Lys2516Glu)
c.7441A>G (p.Lys2481Glu)
c.7432A>G (p.Lys2478Glu)
c.7393A>G (p.Lys2465Glu)
c.7339A>G (p.Lys2447Glu)
c.7243A>G (p.Lys2415Glu)
c.7213A>G (p.Lys2405Glu)
c.7138A>G (p.Lys2380Glu)
c.7036A>G (p.Lys2346Glu)
c.6667A>G (p.Lys2223Glu)
dbSNP
5g.112843110A>TCA16037671APCc.7570A>T (p.Lys2524Ter)
c.*7522A>T (n.*7522A>T)
c.7462A>T (p.Lys2488Ter)
c.7516A>T (p.Lys2506Ter)
c.231-13539A>T
c.7546A>T (p.Lys2516Ter)
c.7441A>T (p.Lys2481Ter)
c.7432A>T (p.Lys2478Ter)
c.7393A>T (p.Lys2465Ter)
c.7339A>T (p.Lys2447Ter)
c.7243A>T (p.Lys2415Ter)
c.7213A>T (p.Lys2405Ter)
c.7138A>T (p.Lys2380Ter)
c.7036A>T (p.Lys2346Ter)
c.6667A>T (p.Lys2223Ter)
dbSNP
5g.112843111A=CA1573471453APCc.7571A= (p.Lys2524=)
c.*7523A= (n.*7523A=)
c.7463A= (p.Lys2488=)
c.7517A= (p.Lys2506=)
c.231-13538A=
c.7547A= (p.Lys2516=)
c.7442A= (p.Lys2481=)
c.7433A= (p.Lys2478=)
c.7394A= (p.Lys2465=)
c.7340A= (p.Lys2447=)
c.7244A= (p.Lys2415=)
c.7214A= (p.Lys2405=)
c.7139A= (p.Lys2380=)
c.7037A= (p.Lys2346=)
c.6668A= (p.Lys2223=)
5g.112843111A>CCA16037672APCc.7571A>C (p.Lys2524Thr)
c.*7523A>C (n.*7523A>C)
c.7463A>C (p.Lys2488Thr)
c.7517A>C (p.Lys2506Thr)
c.231-13538A>C
c.7547A>C (p.Lys2516Thr)
c.7442A>C (p.Lys2481Thr)
c.7433A>C (p.Lys2478Thr)
c.7394A>C (p.Lys2465Thr)
c.7340A>C (p.Lys2447Thr)
c.7244A>C (p.Lys2415Thr)
c.7214A>C (p.Lys2405Thr)
c.7139A>C (p.Lys2380Thr)
c.7037A>C (p.Lys2346Thr)
c.6668A>C (p.Lys2223Thr)
ClinVar dbSNP gnomAD v2
5g.112843111A>GCA16037673APCc.7571A>G (p.Lys2524Arg)
c.*7523A>G (n.*7523A>G)
c.7463A>G (p.Lys2488Arg)
c.7517A>G (p.Lys2506Arg)
c.231-13538A>G
c.7547A>G (p.Lys2516Arg)
c.7442A>G (p.Lys2481Arg)
c.7433A>G (p.Lys2478Arg)
c.7394A>G (p.Lys2465Arg)
c.7340A>G (p.Lys2447Arg)
c.7244A>G (p.Lys2415Arg)
c.7214A>G (p.Lys2405Arg)
c.7139A>G (p.Lys2380Arg)
c.7037A>G (p.Lys2346Arg)
c.6668A>G (p.Lys2223Arg)
dbSNP
5g.112843111A>TCA16037674APCc.7571A>T (p.Lys2524Ile)
c.*7523A>T (n.*7523A>T)
c.7463A>T (p.Lys2488Ile)
c.7517A>T (p.Lys2506Ile)
c.231-13538A>T
c.7547A>T (p.Lys2516Ile)
c.7442A>T (p.Lys2481Ile)
c.7433A>T (p.Lys2478Ile)
c.7394A>T (p.Lys2465Ile)
c.7340A>T (p.Lys2447Ile)
c.7244A>T (p.Lys2415Ile)
c.7214A>T (p.Lys2405Ile)
c.7139A>T (p.Lys2380Ile)
c.7037A>T (p.Lys2346Ile)
c.6668A>T (p.Lys2223Ile)
dbSNP
5g.112843112A=CA1573471463APCc.7572A= (p.Lys2524=)
c.*7524A= (n.*7524A=)
c.7464A= (p.Lys2488=)
c.7518A= (p.Lys2506=)
c.231-13537A=
c.7548A= (p.Lys2516=)
c.7443A= (p.Lys2481=)
c.7434A= (p.Lys2478=)
c.7395A= (p.Lys2465=)
c.7341A= (p.Lys2447=)
c.7245A= (p.Lys2415=)
c.7215A= (p.Lys2405=)
c.7140A= (p.Lys2380=)
c.7038A= (p.Lys2346=)
c.6669A= (p.Lys2223=)
5g.112843112A>CCA16037675APCc.7572A>C (p.Lys2524Asn)
c.*7524A>C (n.*7524A>C)
c.7464A>C (p.Lys2488Asn)
c.7518A>C (p.Lys2506Asn)
c.231-13537A>C
c.7548A>C (p.Lys2516Asn)
c.7443A>C (p.Lys2481Asn)
c.7434A>C (p.Lys2478Asn)
c.7395A>C (p.Lys2465Asn)
c.7341A>C (p.Lys2447Asn)
c.7245A>C (p.Lys2415Asn)
c.7215A>C (p.Lys2405Asn)
c.7140A>C (p.Lys2380Asn)
c.7038A>C (p.Lys2346Asn)
c.6669A>C (p.Lys2223Asn)
dbSNP
5g.112843112A>GCA10578445APCc.7572A>G (p.Lys2524=)
c.*7524A>G (n.*7524A>G)
c.7464A>G (p.Lys2488=)
c.7518A>G (p.Lys2506=)
c.231-13537A>G
c.7548A>G (p.Lys2516=)
c.7443A>G (p.Lys2481=)
c.7434A>G (p.Lys2478=)
c.7395A>G (p.Lys2465=)
c.7341A>G (p.Lys2447=)
c.7245A>G (p.Lys2415=)
c.7215A>G (p.Lys2405=)
c.7140A>G (p.Lys2380=)
c.7038A>G (p.Lys2346=)
c.6669A>G (p.Lys2223=)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843112A>TCA16037676APCc.7572A>T (p.Lys2524Asn)
c.*7524A>T (n.*7524A>T)
c.7464A>T (p.Lys2488Asn)
c.7518A>T (p.Lys2506Asn)
c.231-13537A>T
c.7548A>T (p.Lys2516Asn)
c.7443A>T (p.Lys2481Asn)
c.7434A>T (p.Lys2478Asn)
c.7395A>T (p.Lys2465Asn)
c.7341A>T (p.Lys2447Asn)
c.7245A>T (p.Lys2415Asn)
c.7215A>T (p.Lys2405Asn)
c.7140A>T (p.Lys2380Asn)
c.7038A>T (p.Lys2346Asn)
c.6669A>T (p.Lys2223Asn)
ClinVar dbSNP
5g.112843113C>ACA16037677APCc.7573C>A (p.Leu2525Ile)
c.*7525C>A (n.*7525C>A)
c.7465C>A (p.Leu2489Ile)
c.7519C>A (p.Leu2507Ile)
c.231-13536C>A
c.7549C>A (p.Leu2517Ile)
c.7444C>A (p.Leu2482Ile)
c.7435C>A (p.Leu2479Ile)
c.7396C>A (p.Leu2466Ile)
c.7342C>A (p.Leu2448Ile)
c.7246C>A (p.Leu2416Ile)
c.7216C>A (p.Leu2406Ile)
c.7141C>A (p.Leu2381Ile)
c.7039C>A (p.Leu2347Ile)
c.6670C>A (p.Leu2224Ile)
5g.112843113C=CA1573471474APCc.7573C= (p.Leu2525=)
c.*7525C= (n.*7525C=)
c.7465C= (p.Leu2489=)
c.7519C= (p.Leu2507=)
c.231-13536C=
c.7549C= (p.Leu2517=)
c.7444C= (p.Leu2482=)
c.7435C= (p.Leu2479=)
c.7396C= (p.Leu2466=)
c.7342C= (p.Leu2448=)
c.7246C= (p.Leu2416=)
c.7216C= (p.Leu2406=)
c.7141C= (p.Leu2381=)
c.7039C= (p.Leu2347=)
c.6670C= (p.Leu2224=)
5g.112843113C>GCA16037678APCc.7573C>G (p.Leu2525Val)
c.*7525C>G (n.*7525C>G)
c.7465C>G (p.Leu2489Val)
c.7519C>G (p.Leu2507Val)
c.231-13536C>G
c.7549C>G (p.Leu2517Val)
c.7444C>G (p.Leu2482Val)
c.7435C>G (p.Leu2479Val)
c.7396C>G (p.Leu2466Val)
c.7342C>G (p.Leu2448Val)
c.7246C>G (p.Leu2416Val)
c.7216C>G (p.Leu2406Val)
c.7141C>G (p.Leu2381Val)
c.7039C>G (p.Leu2347Val)
c.6670C>G (p.Leu2224Val)
dbSNP
5g.112843113C>TCA16037679APCc.7573C>T (p.Leu2525Phe)
c.*7525C>T (n.*7525C>T)
c.7465C>T (p.Leu2489Phe)
c.7519C>T (p.Leu2507Phe)
c.231-13536C>T
c.7549C>T (p.Leu2517Phe)
c.7444C>T (p.Leu2482Phe)
c.7435C>T (p.Leu2479Phe)
c.7396C>T (p.Leu2466Phe)
c.7342C>T (p.Leu2448Phe)
c.7246C>T (p.Leu2416Phe)
c.7216C>T (p.Leu2406Phe)
c.7141C>T (p.Leu2381Phe)
c.7039C>T (p.Leu2347Phe)
c.6670C>T (p.Leu2224Phe)
ClinVar dbSNP gnomAD v4
5g.112843114T>ACA16037680APCc.7574T>A (p.Leu2525His)
c.*7526T>A (n.*7526T>A)
c.7466T>A (p.Leu2489His)
c.7520T>A (p.Leu2507His)
c.231-13535T>A
c.7550T>A (p.Leu2517His)
c.7445T>A (p.Leu2482His)
c.7436T>A (p.Leu2479His)
c.7397T>A (p.Leu2466His)
c.7343T>A (p.Leu2448His)
c.7247T>A (p.Leu2416His)
c.7217T>A (p.Leu2406His)
c.7142T>A (p.Leu2381His)
c.7040T>A (p.Leu2347His)
c.6671T>A (p.Leu2224His)
5g.112843114T>CCA16037681APCc.7574T>C (p.Leu2525Pro)
c.*7526T>C (n.*7526T>C)
c.7466T>C (p.Leu2489Pro)
c.7520T>C (p.Leu2507Pro)
c.231-13535T>C
c.7550T>C (p.Leu2517Pro)
c.7445T>C (p.Leu2482Pro)
c.7436T>C (p.Leu2479Pro)
c.7397T>C (p.Leu2466Pro)
c.7343T>C (p.Leu2448Pro)
c.7247T>C (p.Leu2416Pro)
c.7217T>C (p.Leu2406Pro)
c.7142T>C (p.Leu2381Pro)
c.7040T>C (p.Leu2347Pro)
c.6671T>C (p.Leu2224Pro)
ClinVar
5g.112843114T>GCA16037682APCc.7574T>G (p.Leu2525Arg)
c.*7526T>G (n.*7526T>G)
c.7466T>G (p.Leu2489Arg)
c.7520T>G (p.Leu2507Arg)
c.231-13535T>G
c.7550T>G (p.Leu2517Arg)
c.7445T>G (p.Leu2482Arg)
c.7436T>G (p.Leu2479Arg)
c.7397T>G (p.Leu2466Arg)
c.7343T>G (p.Leu2448Arg)
c.7247T>G (p.Leu2416Arg)
c.7217T>G (p.Leu2406Arg)
c.7142T>G (p.Leu2381Arg)
c.7040T>G (p.Leu2347Arg)
c.6671T>G (p.Leu2224Arg)
5g.112843115C>ACA446210870APCc.7575C>A (p.Leu2525=)
c.*7527C>A (n.*7527C>A)
c.7467C>A (p.Leu2489=)
c.7521C>A (p.Leu2507=)
c.231-13534C>A
c.7551C>A (p.Leu2517=)
c.7446C>A (p.Leu2482=)
c.7437C>A (p.Leu2479=)
c.7398C>A (p.Leu2466=)
c.7344C>A (p.Leu2448=)
c.7248C>A (p.Leu2416=)
c.7218C>A (p.Leu2406=)
c.7143C>A (p.Leu2381=)
c.7041C>A (p.Leu2347=)
c.6672C>A (p.Leu2224=)
dbSNP
5g.112843115C=CA1573471495APCc.7575C= (p.Leu2525=)
c.*7527C= (n.*7527C=)
c.7467C= (p.Leu2489=)
c.7521C= (p.Leu2507=)
c.231-13534C=
c.7551C= (p.Leu2517=)
c.7446C= (p.Leu2482=)
c.7437C= (p.Leu2479=)
c.7398C= (p.Leu2466=)
c.7344C= (p.Leu2448=)
c.7248C= (p.Leu2416=)
c.7218C= (p.Leu2406=)
c.7143C= (p.Leu2381=)
c.7041C= (p.Leu2347=)
c.6672C= (p.Leu2224=)
5g.112843115C>GCA446210871APCc.7575C>G (p.Leu2525=)
c.*7527C>G (n.*7527C>G)
c.7467C>G (p.Leu2489=)
c.7521C>G (p.Leu2507=)
c.231-13534C>G
c.7551C>G (p.Leu2517=)
c.7446C>G (p.Leu2482=)
c.7437C>G (p.Leu2479=)
c.7398C>G (p.Leu2466=)
c.7344C>G (p.Leu2448=)
c.7248C>G (p.Leu2416=)
c.7218C>G (p.Leu2406=)
c.7143C>G (p.Leu2381=)
c.7041C>G (p.Leu2347=)
c.6672C>G (p.Leu2224=)
ClinVar dbSNP
5g.112843115C>TCA446210872APCc.7575C>T (p.Leu2525=)
c.*7527C>T (n.*7527C>T)
c.7467C>T (p.Leu2489=)
c.7521C>T (p.Leu2507=)
c.231-13534C>T
c.7551C>T (p.Leu2517=)
c.7446C>T (p.Leu2482=)
c.7437C>T (p.Leu2479=)
c.7398C>T (p.Leu2466=)
c.7344C>T (p.Leu2448=)
c.7248C>T (p.Leu2416=)
c.7218C>T (p.Leu2406=)
c.7143C>T (p.Leu2381=)
c.7041C>T (p.Leu2347=)
c.6672C>T (p.Leu2224=)
dbSNP
5g.112843116C>ACA16037683APCc.7576C>A (p.Pro2526Thr)
c.*7528C>A (n.*7528C>A)
c.7468C>A (p.Pro2490Thr)
c.7522C>A (p.Pro2508Thr)
c.231-13533C>A
c.7552C>A (p.Pro2518Thr)
c.7447C>A (p.Pro2483Thr)
c.7438C>A (p.Pro2480Thr)
c.7399C>A (p.Pro2467Thr)
c.7345C>A (p.Pro2449Thr)
c.7249C>A (p.Pro2417Thr)
c.7219C>A (p.Pro2407Thr)
c.7144C>A (p.Pro2382Thr)
c.7042C>A (p.Pro2348Thr)
c.6673C>A (p.Pro2225Thr)
dbSNP
5g.112843116C=CA1573471500APCc.7576C= (p.Pro2526=)
c.*7528C= (n.*7528C=)
c.7468C= (p.Pro2490=)
c.7522C= (p.Pro2508=)
c.231-13533C=
c.7552C= (p.Pro2518=)
c.7447C= (p.Pro2483=)
c.7438C= (p.Pro2480=)
c.7399C= (p.Pro2467=)
c.7345C= (p.Pro2449=)
c.7249C= (p.Pro2417=)
c.7219C= (p.Pro2407=)
c.7144C= (p.Pro2382=)
c.7042C= (p.Pro2348=)
c.6673C= (p.Pro2225=)
5g.112843116C>GCA16037684APCc.7576C>G (p.Pro2526Ala)
c.*7528C>G (n.*7528C>G)
c.7468C>G (p.Pro2490Ala)
c.7522C>G (p.Pro2508Ala)
c.231-13533C>G
c.7552C>G (p.Pro2518Ala)
c.7447C>G (p.Pro2483Ala)
c.7438C>G (p.Pro2480Ala)
c.7399C>G (p.Pro2467Ala)
c.7345C>G (p.Pro2449Ala)
c.7249C>G (p.Pro2417Ala)
c.7219C>G (p.Pro2407Ala)
c.7144C>G (p.Pro2382Ala)
c.7042C>G (p.Pro2348Ala)
c.6673C>G (p.Pro2225Ala)
dbSNP
5g.112843116C>TCA16037685APCc.7576C>T (p.Pro2526Ser)
c.*7528C>T (n.*7528C>T)
c.7468C>T (p.Pro2490Ser)
c.7522C>T (p.Pro2508Ser)
c.231-13533C>T
c.7552C>T (p.Pro2518Ser)
c.7447C>T (p.Pro2483Ser)
c.7438C>T (p.Pro2480Ser)
c.7399C>T (p.Pro2467Ser)
c.7345C>T (p.Pro2449Ser)
c.7249C>T (p.Pro2417Ser)
c.7219C>T (p.Pro2407Ser)
c.7144C>T (p.Pro2382Ser)
c.7042C>T (p.Pro2348Ser)
c.6673C>T (p.Pro2225Ser)
dbSNP
5g.112843117C>ACA16037686APCc.7577C>A (p.Pro2526Gln)
c.*7529C>A (n.*7529C>A)
c.7469C>A (p.Pro2490Gln)
c.7523C>A (p.Pro2508Gln)
c.231-13532C>A
c.7553C>A (p.Pro2518Gln)
c.7448C>A (p.Pro2483Gln)
c.7439C>A (p.Pro2480Gln)
c.7400C>A (p.Pro2467Gln)
c.7346C>A (p.Pro2449Gln)
c.7250C>A (p.Pro2417Gln)
c.7220C>A (p.Pro2407Gln)
c.7145C>A (p.Pro2382Gln)
c.7043C>A (p.Pro2348Gln)
c.6674C>A (p.Pro2225Gln)
5g.112843117C>GCA16037687APCc.7577C>G (p.Pro2526Arg)
c.*7529C>G (n.*7529C>G)
c.7469C>G (p.Pro2490Arg)
c.7523C>G (p.Pro2508Arg)
c.231-13532C>G
c.7553C>G (p.Pro2518Arg)
c.7448C>G (p.Pro2483Arg)
c.7439C>G (p.Pro2480Arg)
c.7400C>G (p.Pro2467Arg)
c.7346C>G (p.Pro2449Arg)
c.7250C>G (p.Pro2417Arg)
c.7220C>G (p.Pro2407Arg)
c.7145C>G (p.Pro2382Arg)
c.7043C>G (p.Pro2348Arg)
c.6674C>G (p.Pro2225Arg)
5g.112843117C>TCA16037688APCc.7577C>T (p.Pro2526Leu)
c.*7529C>T (n.*7529C>T)
c.7469C>T (p.Pro2490Leu)
c.7523C>T (p.Pro2508Leu)
c.231-13532C>T
c.7553C>T (p.Pro2518Leu)
c.7448C>T (p.Pro2483Leu)
c.7439C>T (p.Pro2480Leu)
c.7400C>T (p.Pro2467Leu)
c.7346C>T (p.Pro2449Leu)
c.7250C>T (p.Pro2417Leu)
c.7220C>T (p.Pro2407Leu)
c.7145C>T (p.Pro2382Leu)
c.7043C>T (p.Pro2348Leu)
c.6674C>T (p.Pro2225Leu)
gnomAD v4
5g.112843118A>CCA446210873APCc.7578A>C (p.Pro2526=)
c.*7530A>C (n.*7530A>C)
c.7470A>C (p.Pro2490=)
c.7524A>C (p.Pro2508=)
c.231-13531A>C
c.7554A>C (p.Pro2518=)
c.7449A>C (p.Pro2483=)
c.7440A>C (p.Pro2480=)
c.7401A>C (p.Pro2467=)
c.7347A>C (p.Pro2449=)
c.7251A>C (p.Pro2417=)
c.7221A>C (p.Pro2407=)
c.7146A>C (p.Pro2382=)
c.7044A>C (p.Pro2348=)
c.6675A>C (p.Pro2225=)
dbSNP
5g.112843118A>GCA446210875APCc.7578A>G (p.Pro2526=)
c.*7530A>G (n.*7530A>G)
c.7470A>G (p.Pro2490=)
c.7524A>G (p.Pro2508=)
c.231-13531A>G
c.7554A>G (p.Pro2518=)
c.7449A>G (p.Pro2483=)
c.7440A>G (p.Pro2480=)
c.7401A>G (p.Pro2467=)
c.7347A>G (p.Pro2449=)
c.7251A>G (p.Pro2417=)
c.7221A>G (p.Pro2407=)
c.7146A>G (p.Pro2382=)
c.7044A>G (p.Pro2348=)
c.6675A>G (p.Pro2225=)
dbSNP
5g.112843118A>TCA446210874APCc.7578A>T (p.Pro2526=)
c.*7530A>T (n.*7530A>T)
c.7470A>T (p.Pro2490=)
c.7524A>T (p.Pro2508=)
c.231-13531A>T
c.7554A>T (p.Pro2518=)
c.7449A>T (p.Pro2483=)
c.7440A>T (p.Pro2480=)
c.7401A>T (p.Pro2467=)
c.7347A>T (p.Pro2449=)
c.7251A>T (p.Pro2417=)
c.7221A>T (p.Pro2407=)
c.7146A>T (p.Pro2382=)
c.7044A>T (p.Pro2348=)
c.6675A>T (p.Pro2225=)
ClinVar dbSNP
5g.112843119C>ACA16037689APCc.7579C>A (p.Pro2527Thr)
c.*7531C>A (n.*7531C>A)
c.7471C>A (p.Pro2491Thr)
c.7525C>A (p.Pro2509Thr)
c.231-13530C>A
c.7555C>A (p.Pro2519Thr)
c.7450C>A (p.Pro2484Thr)
c.7441C>A (p.Pro2481Thr)
c.7402C>A (p.Pro2468Thr)
c.7348C>A (p.Pro2450Thr)
c.7252C>A (p.Pro2418Thr)
c.7222C>A (p.Pro2408Thr)
c.7147C>A (p.Pro2383Thr)
c.7045C>A (p.Pro2349Thr)
c.6676C>A (p.Pro2226Thr)
dbSNP
5g.112843119C=CA1573471508APCc.7579C= (p.Pro2527=)
c.*7531C= (n.*7531C=)
c.7471C= (p.Pro2491=)
c.7525C= (p.Pro2509=)
c.231-13530C=
c.7555C= (p.Pro2519=)
c.7450C= (p.Pro2484=)
c.7441C= (p.Pro2481=)
c.7402C= (p.Pro2468=)
c.7348C= (p.Pro2450=)
c.7252C= (p.Pro2418=)
c.7222C= (p.Pro2408=)
c.7147C= (p.Pro2383=)
c.7045C= (p.Pro2349=)
c.6676C= (p.Pro2226=)
5g.112843119C>GCA16037690APCc.7579C>G (p.Pro2527Ala)
c.*7531C>G (n.*7531C>G)
c.7471C>G (p.Pro2491Ala)
c.7525C>G (p.Pro2509Ala)
c.231-13530C>G
c.7555C>G (p.Pro2519Ala)
c.7450C>G (p.Pro2484Ala)
c.7441C>G (p.Pro2481Ala)
c.7402C>G (p.Pro2468Ala)
c.7348C>G (p.Pro2450Ala)
c.7252C>G (p.Pro2418Ala)
c.7222C>G (p.Pro2408Ala)
c.7147C>G (p.Pro2383Ala)
c.7045C>G (p.Pro2349Ala)
c.6676C>G (p.Pro2226Ala)
dbSNP
5g.112843119C>TCA16037691APCc.7579C>T (p.Pro2527Ser)
c.*7531C>T (n.*7531C>T)
c.7471C>T (p.Pro2491Ser)
c.7525C>T (p.Pro2509Ser)
c.231-13530C>T
c.7555C>T (p.Pro2519Ser)
c.7450C>T (p.Pro2484Ser)
c.7441C>T (p.Pro2481Ser)
c.7402C>T (p.Pro2468Ser)
c.7348C>T (p.Pro2450Ser)
c.7252C>T (p.Pro2418Ser)
c.7222C>T (p.Pro2408Ser)
c.7147C>T (p.Pro2383Ser)
c.7045C>T (p.Pro2349Ser)
c.6676C>T (p.Pro2226Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112843120C>ACA16037692APCc.7580C>A (p.Pro2527His)
c.*7532C>A (n.*7532C>A)
c.7472C>A (p.Pro2491His)
c.7526C>A (p.Pro2509His)
c.231-13529C>A
c.7556C>A (p.Pro2519His)
c.7451C>A (p.Pro2484His)
c.7442C>A (p.Pro2481His)
c.7403C>A (p.Pro2468His)
c.7349C>A (p.Pro2450His)
c.7253C>A (p.Pro2418His)
c.7223C>A (p.Pro2408His)
c.7148C>A (p.Pro2383His)
c.7046C>A (p.Pro2349His)
c.6677C>A (p.Pro2226His)
ClinVar dbSNP
5g.112843120C=CA1573471519APCc.7580C= (p.Pro2527=)
c.*7532C= (n.*7532C=)
c.7472C= (p.Pro2491=)
c.7526C= (p.Pro2509=)
c.231-13529C=
c.7556C= (p.Pro2519=)
c.7451C= (p.Pro2484=)
c.7442C= (p.Pro2481=)
c.7403C= (p.Pro2468=)
c.7349C= (p.Pro2450=)
c.7253C= (p.Pro2418=)
c.7223C= (p.Pro2408=)
c.7148C= (p.Pro2383=)
c.7046C= (p.Pro2349=)
c.6677C= (p.Pro2226=)
5g.112843120C>GCA16037693APCc.7580C>G (p.Pro2527Arg)
c.*7532C>G (n.*7532C>G)
c.7472C>G (p.Pro2491Arg)
c.7526C>G (p.Pro2509Arg)
c.231-13529C>G
c.7556C>G (p.Pro2519Arg)
c.7451C>G (p.Pro2484Arg)
c.7442C>G (p.Pro2481Arg)
c.7403C>G (p.Pro2468Arg)
c.7349C>G (p.Pro2450Arg)
c.7253C>G (p.Pro2418Arg)
c.7223C>G (p.Pro2408Arg)
c.7148C>G (p.Pro2383Arg)
c.7046C>G (p.Pro2349Arg)
c.6677C>G (p.Pro2226Arg)
dbSNP
5g.112843120C>TCA16037694APCc.7580C>T (p.Pro2527Leu)
c.*7532C>T (n.*7532C>T)
c.7472C>T (p.Pro2491Leu)
c.7526C>T (p.Pro2509Leu)
c.231-13529C>T
c.7556C>T (p.Pro2519Leu)
c.7451C>T (p.Pro2484Leu)
c.7442C>T (p.Pro2481Leu)
c.7403C>T (p.Pro2468Leu)
c.7349C>T (p.Pro2450Leu)
c.7253C>T (p.Pro2418Leu)
c.7223C>T (p.Pro2408Leu)
c.7148C>T (p.Pro2383Leu)
c.7046C>T (p.Pro2349Leu)
c.6677C>T (p.Pro2226Leu)
ClinVar dbSNP
5g.112843121T>ACA446210878APCc.7581T>A (p.Pro2527=)
c.*7533T>A (n.*7533T>A)
c.7473T>A (p.Pro2491=)
c.7527T>A (p.Pro2509=)
c.231-13528T>A
c.7557T>A (p.Pro2519=)
c.7452T>A (p.Pro2484=)
c.7443T>A (p.Pro2481=)
c.7404T>A (p.Pro2468=)
c.7350T>A (p.Pro2450=)
c.7254T>A (p.Pro2418=)
c.7224T>A (p.Pro2408=)
c.7149T>A (p.Pro2383=)
c.7047T>A (p.Pro2349=)
c.6678T>A (p.Pro2226=)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843121T>CCA446210877APCc.7581T>C (p.Pro2527=)
c.*7533T>C (n.*7533T>C)
c.7473T>C (p.Pro2491=)
c.7527T>C (p.Pro2509=)
c.231-13528T>C
c.7557T>C (p.Pro2519=)
c.7452T>C (p.Pro2484=)
c.7443T>C (p.Pro2481=)
c.7404T>C (p.Pro2468=)
c.7350T>C (p.Pro2450=)
c.7254T>C (p.Pro2418=)
c.7224T>C (p.Pro2408=)
c.7149T>C (p.Pro2383=)
c.7047T>C (p.Pro2349=)
c.6678T>C (p.Pro2226=)
5g.112843121T>GCA446210876APCc.7581T>G (p.Pro2527=)
c.*7533T>G (n.*7533T>G)
c.7473T>G (p.Pro2491=)
c.7527T>G (p.Pro2509=)
c.231-13528T>G
c.7557T>G (p.Pro2519=)
c.7452T>G (p.Pro2484=)
c.7443T>G (p.Pro2481=)
c.7404T>G (p.Pro2468=)
c.7350T>G (p.Pro2450=)
c.7254T>G (p.Pro2418=)
c.7224T>G (p.Pro2408=)
c.7149T>G (p.Pro2383=)
c.7047T>G (p.Pro2349=)
c.6678T>G (p.Pro2226=)
5g.112843121T=CA1573471528APCc.7581T= (p.Pro2527=)
c.*7533T= (n.*7533T=)
c.7473T= (p.Pro2491=)
c.7527T= (p.Pro2509=)
c.231-13528T=
c.7557T= (p.Pro2519=)
c.7452T= (p.Pro2484=)
c.7443T= (p.Pro2481=)
c.7404T= (p.Pro2468=)
c.7350T= (p.Pro2450=)
c.7254T= (p.Pro2418=)
c.7224T= (p.Pro2408=)
c.7149T= (p.Pro2383=)
c.7047T= (p.Pro2349=)
c.6678T= (p.Pro2226=)
5g.112843122A=CA1573471536APCc.7582A= (p.Asn2528=)
c.*7534A= (n.*7534A=)
c.7474A= (p.Asn2492=)
c.7528A= (p.Asn2510=)
c.231-13527A=
c.7558A= (p.Asn2520=)
c.7453A= (p.Asn2485=)
c.7444A= (p.Asn2482=)
c.7405A= (p.Asn2469=)
c.7351A= (p.Asn2451=)
c.7255A= (p.Asn2419=)
c.7225A= (p.Asn2409=)
c.7150A= (p.Asn2384=)
c.7048A= (p.Asn2350=)
c.6679A= (p.Asn2227=)
5g.112843122A>CCA16037695APCc.7582A>C (p.Asn2528His)
c.*7534A>C (n.*7534A>C)
c.7474A>C (p.Asn2492His)
c.7528A>C (p.Asn2510His)
c.231-13527A>C
c.7558A>C (p.Asn2520His)
c.7453A>C (p.Asn2485His)
c.7444A>C (p.Asn2482His)
c.7405A>C (p.Asn2469His)
c.7351A>C (p.Asn2451His)
c.7255A>C (p.Asn2419His)
c.7225A>C (p.Asn2409His)
c.7150A>C (p.Asn2384His)
c.7048A>C (p.Asn2350His)
c.6679A>C (p.Asn2227His)
5g.112843122A>GCA013762APCc.7582A>G (p.Asn2528Asp)
c.*7534A>G (n.*7534A>G)
c.7474A>G (p.Asn2492Asp)
c.7528A>G (p.Asn2510Asp)
c.231-13527A>G
c.7558A>G (p.Asn2520Asp)
c.7453A>G (p.Asn2485Asp)
c.7444A>G (p.Asn2482Asp)
c.7405A>G (p.Asn2469Asp)
c.7351A>G (p.Asn2451Asp)
c.7255A>G (p.Asn2419Asp)
c.7225A>G (p.Asn2409Asp)
c.7150A>G (p.Asn2384Asp)
c.7048A>G (p.Asn2350Asp)
c.6679A>G (p.Asn2227Asp)
ClinVar dbSNP
5g.112843122A>TCA16037696APCc.7582A>T (p.Asn2528Tyr)
c.*7534A>T (n.*7534A>T)
c.7474A>T (p.Asn2492Tyr)
c.7528A>T (p.Asn2510Tyr)
c.231-13527A>T
c.7558A>T (p.Asn2520Tyr)
c.7453A>T (p.Asn2485Tyr)
c.7444A>T (p.Asn2482Tyr)
c.7405A>T (p.Asn2469Tyr)
c.7351A>T (p.Asn2451Tyr)
c.7255A>T (p.Asn2419Tyr)
c.7225A>T (p.Asn2409Tyr)
c.7150A>T (p.Asn2384Tyr)
c.7048A>T (p.Asn2350Tyr)
c.6679A>T (p.Asn2227Tyr)
dbSNP
5g.112843123A=CA1573471548APCc.7583A= (p.Asn2528=)
c.*7535A= (n.*7535A=)
c.7475A= (p.Asn2492=)
c.7529A= (p.Asn2510=)
c.231-13526A=
c.7559A= (p.Asn2520=)
c.7454A= (p.Asn2485=)
c.7445A= (p.Asn2482=)
c.7406A= (p.Asn2469=)
c.7352A= (p.Asn2451=)
c.7256A= (p.Asn2419=)
c.7226A= (p.Asn2409=)
c.7151A= (p.Asn2384=)
c.7049A= (p.Asn2350=)
c.6680A= (p.Asn2227=)
5g.112843123A>CCA16037697APCc.7583A>C (p.Asn2528Thr)
c.*7535A>C (n.*7535A>C)
c.7475A>C (p.Asn2492Thr)
c.7529A>C (p.Asn2510Thr)
c.231-13526A>C
c.7559A>C (p.Asn2520Thr)
c.7454A>C (p.Asn2485Thr)
c.7445A>C (p.Asn2482Thr)
c.7406A>C (p.Asn2469Thr)
c.7352A>C (p.Asn2451Thr)
c.7256A>C (p.Asn2419Thr)
c.7226A>C (p.Asn2409Thr)
c.7151A>C (p.Asn2384Thr)
c.7049A>C (p.Asn2350Thr)
c.6680A>C (p.Asn2227Thr)
dbSNP
5g.112843123A>GCA10578446APCc.7583A>G (p.Asn2528Ser)
c.*7535A>G (n.*7535A>G)
c.7475A>G (p.Asn2492Ser)
c.7529A>G (p.Asn2510Ser)
c.231-13526A>G
c.7559A>G (p.Asn2520Ser)
c.7454A>G (p.Asn2485Ser)
c.7445A>G (p.Asn2482Ser)
c.7406A>G (p.Asn2469Ser)
c.7352A>G (p.Asn2451Ser)
c.7256A>G (p.Asn2419Ser)
c.7226A>G (p.Asn2409Ser)
c.7151A>G (p.Asn2384Ser)
c.7049A>G (p.Asn2350Ser)
c.6680A>G (p.Asn2227Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843123A>TCA16037698APCc.7583A>T (p.Asn2528Ile)
c.*7535A>T (n.*7535A>T)
c.7475A>T (p.Asn2492Ile)
c.7529A>T (p.Asn2510Ile)
c.231-13526A>T
c.7559A>T (p.Asn2520Ile)
c.7454A>T (p.Asn2485Ile)
c.7445A>T (p.Asn2482Ile)
c.7406A>T (p.Asn2469Ile)
c.7352A>T (p.Asn2451Ile)
c.7256A>T (p.Asn2419Ile)
c.7226A>T (p.Asn2409Ile)
c.7151A>T (p.Asn2384Ile)
c.7049A>T (p.Asn2350Ile)
c.6680A>T (p.Asn2227Ile)
dbSNP
5g.112843124T>ACA16037699APCc.7584T>A (p.Asn2528Lys)
c.*7536T>A (n.*7536T>A)
c.7476T>A (p.Asn2492Lys)
c.7530T>A (p.Asn2510Lys)
c.231-13525T>A
c.7560T>A (p.Asn2520Lys)
c.7455T>A (p.Asn2485Lys)
c.7446T>A (p.Asn2482Lys)
c.7407T>A (p.Asn2469Lys)
c.7353T>A (p.Asn2451Lys)
c.7257T>A (p.Asn2419Lys)
c.7227T>A (p.Asn2409Lys)
c.7152T>A (p.Asn2384Lys)
c.7050T>A (p.Asn2350Lys)
c.6681T>A (p.Asn2227Lys)
dbSNP
5g.112843124T>CCA446210879APCc.7584T>C (p.Asn2528=)
c.*7536T>C (n.*7536T>C)
c.7476T>C (p.Asn2492=)
c.7530T>C (p.Asn2510=)
c.231-13525T>C
c.7560T>C (p.Asn2520=)
c.7455T>C (p.Asn2485=)
c.7446T>C (p.Asn2482=)
c.7407T>C (p.Asn2469=)
c.7353T>C (p.Asn2451=)
c.7257T>C (p.Asn2419=)
c.7227T>C (p.Asn2409=)
c.7152T>C (p.Asn2384=)
c.7050T>C (p.Asn2350=)
c.6681T>C (p.Asn2227=)
ClinVar dbSNP
5g.112843124T>GCA16037700APCc.7584T>G (p.Asn2528Lys)
c.*7536T>G (n.*7536T>G)
c.7476T>G (p.Asn2492Lys)
c.7530T>G (p.Asn2510Lys)
c.231-13525T>G
c.7560T>G (p.Asn2520Lys)
c.7455T>G (p.Asn2485Lys)
c.7446T>G (p.Asn2482Lys)
c.7407T>G (p.Asn2469Lys)
c.7353T>G (p.Asn2451Lys)
c.7257T>G (p.Asn2419Lys)
c.7227T>G (p.Asn2409Lys)
c.7152T>G (p.Asn2384Lys)
c.7050T>G (p.Asn2350Lys)
c.6681T>G (p.Asn2227Lys)
dbSNP
5g.112843125C>ACA16037701APCc.7585C>A (p.Leu2529Ile)
c.*7537C>A (n.*7537C>A)
c.7477C>A (p.Leu2493Ile)
c.7531C>A (p.Leu2511Ile)
c.231-13524C>A
c.7561C>A (p.Leu2521Ile)
c.7456C>A (p.Leu2486Ile)
c.7447C>A (p.Leu2483Ile)
c.7408C>A (p.Leu2470Ile)
c.7354C>A (p.Leu2452Ile)
c.7258C>A (p.Leu2420Ile)
c.7228C>A (p.Leu2410Ile)
c.7153C>A (p.Leu2385Ile)
c.7051C>A (p.Leu2351Ile)
c.6682C>A (p.Leu2228Ile)
gnomAD v4
5g.112843125C=CA1573471563APCc.7585C= (p.Leu2529=)
c.*7537C= (n.*7537C=)
c.7477C= (p.Leu2493=)
c.7531C= (p.Leu2511=)
c.231-13524C=
c.7561C= (p.Leu2521=)
c.7456C= (p.Leu2486=)
c.7447C= (p.Leu2483=)
c.7408C= (p.Leu2470=)
c.7354C= (p.Leu2452=)
c.7258C= (p.Leu2420=)
c.7228C= (p.Leu2410=)
c.7153C= (p.Leu2385=)
c.7051C= (p.Leu2351=)
c.6682C= (p.Leu2228=)
5g.112843125C>GCA16037702APCc.7585C>G (p.Leu2529Val)
c.*7537C>G (n.*7537C>G)
c.7477C>G (p.Leu2493Val)
c.7531C>G (p.Leu2511Val)
c.231-13524C>G
c.7561C>G (p.Leu2521Val)
c.7456C>G (p.Leu2486Val)
c.7447C>G (p.Leu2483Val)
c.7408C>G (p.Leu2470Val)
c.7354C>G (p.Leu2452Val)
c.7258C>G (p.Leu2420Val)
c.7228C>G (p.Leu2410Val)
c.7153C>G (p.Leu2385Val)
c.7051C>G (p.Leu2351Val)
c.6682C>G (p.Leu2228Val)
ClinVar dbSNP
5g.112843125C>TCA013771APCc.7585C>T (p.Leu2529Phe)
c.*7537C>T (n.*7537C>T)
c.7477C>T (p.Leu2493Phe)
c.7531C>T (p.Leu2511Phe)
c.231-13524C>T
c.7561C>T (p.Leu2521Phe)
c.7456C>T (p.Leu2486Phe)
c.7447C>T (p.Leu2483Phe)
c.7408C>T (p.Leu2470Phe)
c.7354C>T (p.Leu2452Phe)
c.7258C>T (p.Leu2420Phe)
c.7228C>T (p.Leu2410Phe)
c.7153C>T (p.Leu2385Phe)
c.7051C>T (p.Leu2351Phe)
c.6682C>T (p.Leu2228Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843126T>ACA16037703APCc.7586T>A (p.Leu2529His)
c.*7538T>A (n.*7538T>A)
c.7478T>A (p.Leu2493His)
c.7532T>A (p.Leu2511His)
c.231-13523T>A
c.7562T>A (p.Leu2521His)
c.7457T>A (p.Leu2486His)
c.7448T>A (p.Leu2483His)
c.7409T>A (p.Leu2470His)
c.7355T>A (p.Leu2452His)
c.7259T>A (p.Leu2420His)
c.7229T>A (p.Leu2410His)
c.7154T>A (p.Leu2385His)
c.7052T>A (p.Leu2351His)
c.6683T>A (p.Leu2228His)
dbSNP
5g.112843126T>CCA16037704APCc.7586T>C (p.Leu2529Pro)
c.*7538T>C (n.*7538T>C)
c.7478T>C (p.Leu2493Pro)
c.7532T>C (p.Leu2511Pro)
c.231-13523T>C
c.7562T>C (p.Leu2521Pro)
c.7457T>C (p.Leu2486Pro)
c.7448T>C (p.Leu2483Pro)
c.7409T>C (p.Leu2470Pro)
c.7355T>C (p.Leu2452Pro)
c.7259T>C (p.Leu2420Pro)
c.7229T>C (p.Leu2410Pro)
c.7154T>C (p.Leu2385Pro)
c.7052T>C (p.Leu2351Pro)
c.6683T>C (p.Leu2228Pro)
ClinVar dbSNP
5g.112843126T>GCA16037705APCc.7586T>G (p.Leu2529Arg)
c.*7538T>G (n.*7538T>G)
c.7478T>G (p.Leu2493Arg)
c.7532T>G (p.Leu2511Arg)
c.231-13523T>G
c.7562T>G (p.Leu2521Arg)
c.7457T>G (p.Leu2486Arg)
c.7448T>G (p.Leu2483Arg)
c.7409T>G (p.Leu2470Arg)
c.7355T>G (p.Leu2452Arg)
c.7259T>G (p.Leu2420Arg)
c.7229T>G (p.Leu2410Arg)
c.7154T>G (p.Leu2385Arg)
c.7052T>G (p.Leu2351Arg)
c.6683T>G (p.Leu2228Arg)
5g.112843126T=CA1573471575APCc.7586T= (p.Leu2529=)
c.*7538T= (n.*7538T=)
c.7478T= (p.Leu2493=)
c.7532T= (p.Leu2511=)
c.231-13523T=
c.7562T= (p.Leu2521=)
c.7457T= (p.Leu2486=)
c.7448T= (p.Leu2483=)
c.7409T= (p.Leu2470=)
c.7355T= (p.Leu2452=)
c.7259T= (p.Leu2420=)
c.7229T= (p.Leu2410=)
c.7154T= (p.Leu2385=)
c.7052T= (p.Leu2351=)
c.6683T= (p.Leu2228=)
5g.112843127C>ACA446210880APCc.7587C>A (p.Leu2529=)
c.*7539C>A (n.*7539C>A)
c.7479C>A (p.Leu2493=)
c.7533C>A (p.Leu2511=)
c.231-13522C>A
c.7563C>A (p.Leu2521=)
c.7458C>A (p.Leu2486=)
c.7449C>A (p.Leu2483=)
c.7410C>A (p.Leu2470=)
c.7356C>A (p.Leu2452=)
c.7260C>A (p.Leu2420=)
c.7230C>A (p.Leu2410=)
c.7155C>A (p.Leu2385=)
c.7053C>A (p.Leu2351=)
c.6684C>A (p.Leu2228=)
dbSNP
5g.112843127C=CA1573471600APCc.7587C= (p.Leu2529=)
c.*7539C= (n.*7539C=)
c.7479C= (p.Leu2493=)
c.7533C= (p.Leu2511=)
c.231-13522C=
c.7563C= (p.Leu2521=)
c.7458C= (p.Leu2486=)
c.7449C= (p.Leu2483=)
c.7410C= (p.Leu2470=)
c.7356C= (p.Leu2452=)
c.7260C= (p.Leu2420=)
c.7230C= (p.Leu2410=)
c.7155C= (p.Leu2385=)
c.7053C= (p.Leu2351=)
c.6684C= (p.Leu2228=)
5g.112843127C>GCA446210881APCc.7587C>G (p.Leu2529=)
c.*7539C>G (n.*7539C>G)
c.7479C>G (p.Leu2493=)
c.7533C>G (p.Leu2511=)
c.231-13522C>G
c.7563C>G (p.Leu2521=)
c.7458C>G (p.Leu2486=)
c.7449C>G (p.Leu2483=)
c.7410C>G (p.Leu2470=)
c.7356C>G (p.Leu2452=)
c.7260C>G (p.Leu2420=)
c.7230C>G (p.Leu2410=)
c.7155C>G (p.Leu2385=)
c.7053C>G (p.Leu2351=)
c.6684C>G (p.Leu2228=)
dbSNP
5g.112843127C>TCA16604674APCc.7587C>T (p.Leu2529=)
c.*7539C>T (n.*7539C>T)
c.7479C>T (p.Leu2493=)
c.7533C>T (p.Leu2511=)
c.231-13522C>T
c.7563C>T (p.Leu2521=)
c.7458C>T (p.Leu2486=)
c.7449C>T (p.Leu2483=)
c.7410C>T (p.Leu2470=)
c.7356C>T (p.Leu2452=)
c.7260C>T (p.Leu2420=)
c.7230C>T (p.Leu2410=)
c.7155C>T (p.Leu2385=)
c.7053C>T (p.Leu2351=)
c.6684C>T (p.Leu2228=)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843128A>CCA16037706APCc.7588A>C (p.Ser2530Arg)
c.*7540A>C (n.*7540A>C)
c.7480A>C (p.Ser2494Arg)
c.7534A>C (p.Ser2512Arg)
c.231-13521A>C
c.7564A>C (p.Ser2522Arg)
c.7459A>C (p.Ser2487Arg)
c.7450A>C (p.Ser2484Arg)
c.7411A>C (p.Ser2471Arg)
c.7357A>C (p.Ser2453Arg)
c.7261A>C (p.Ser2421Arg)
c.7231A>C (p.Ser2411Arg)
c.7156A>C (p.Ser2386Arg)
c.7054A>C (p.Ser2352Arg)
c.6685A>C (p.Ser2229Arg)
ClinVar
5g.112843128A>GCA16037707APCc.7588A>G (p.Ser2530Gly)
c.*7540A>G (n.*7540A>G)
c.7480A>G (p.Ser2494Gly)
c.7534A>G (p.Ser2512Gly)
c.231-13521A>G
c.7564A>G (p.Ser2522Gly)
c.7459A>G (p.Ser2487Gly)
c.7450A>G (p.Ser2484Gly)
c.7411A>G (p.Ser2471Gly)
c.7357A>G (p.Ser2453Gly)
c.7261A>G (p.Ser2421Gly)
c.7231A>G (p.Ser2411Gly)
c.7156A>G (p.Ser2386Gly)
c.7054A>G (p.Ser2352Gly)
c.6685A>G (p.Ser2229Gly)
ClinVar dbSNP
5g.112843128A>TCA16037708APCc.7588A>T (p.Ser2530Cys)
c.*7540A>T (n.*7540A>T)
c.7480A>T (p.Ser2494Cys)
c.7534A>T (p.Ser2512Cys)
c.231-13521A>T
c.7564A>T (p.Ser2522Cys)
c.7459A>T (p.Ser2487Cys)
c.7450A>T (p.Ser2484Cys)
c.7411A>T (p.Ser2471Cys)
c.7357A>T (p.Ser2453Cys)
c.7261A>T (p.Ser2421Cys)
c.7231A>T (p.Ser2411Cys)
c.7156A>T (p.Ser2386Cys)
c.7054A>T (p.Ser2352Cys)
c.6685A>T (p.Ser2229Cys)
ClinVar dbSNP
5g.112843129G>ACA16037709APCc.7589G>A (p.Ser2530Asn)
c.*7541G>A (n.*7541G>A)
c.7481G>A (p.Ser2494Asn)
c.7535G>A (p.Ser2512Asn)
c.231-13520G>A
c.7565G>A (p.Ser2522Asn)
c.7460G>A (p.Ser2487Asn)
c.7451G>A (p.Ser2484Asn)
c.7412G>A (p.Ser2471Asn)
c.7358G>A (p.Ser2453Asn)
c.7262G>A (p.Ser2421Asn)
c.7232G>A (p.Ser2411Asn)
c.7157G>A (p.Ser2386Asn)
c.7055G>A (p.Ser2352Asn)
c.6686G>A (p.Ser2229Asn)
dbSNP gnomAD v4
5g.112843129G>CCA16037710APCc.7589G>C (p.Ser2530Thr)
c.*7541G>C (n.*7541G>C)
c.7481G>C (p.Ser2494Thr)
c.7535G>C (p.Ser2512Thr)
c.231-13520G>C
c.7565G>C (p.Ser2522Thr)
c.7460G>C (p.Ser2487Thr)
c.7451G>C (p.Ser2484Thr)
c.7412G>C (p.Ser2471Thr)
c.7358G>C (p.Ser2453Thr)
c.7262G>C (p.Ser2421Thr)
c.7232G>C (p.Ser2411Thr)
c.7157G>C (p.Ser2386Thr)
c.7055G>C (p.Ser2352Thr)
c.6686G>C (p.Ser2229Thr)
ClinVar dbSNP gnomAD v4
5g.112843129G=CA1573471616APCc.7589G= (p.Ser2530=)
c.*7541G= (n.*7541G=)
c.7481G= (p.Ser2494=)
c.7535G= (p.Ser2512=)
c.231-13520G=
c.7565G= (p.Ser2522=)
c.7460G= (p.Ser2487=)
c.7451G= (p.Ser2484=)
c.7412G= (p.Ser2471=)
c.7358G= (p.Ser2453=)
c.7262G= (p.Ser2421=)
c.7232G= (p.Ser2411=)
c.7157G= (p.Ser2386=)
c.7055G= (p.Ser2352=)
c.6686G= (p.Ser2229=)
5g.112843129G>TCA16037711APCc.7589G>T (p.Ser2530Ile)
c.*7541G>T (n.*7541G>T)
c.7481G>T (p.Ser2494Ile)
c.7535G>T (p.Ser2512Ile)
c.231-13520G>T
c.7565G>T (p.Ser2522Ile)
c.7460G>T (p.Ser2487Ile)
c.7451G>T (p.Ser2484Ile)
c.7412G>T (p.Ser2471Ile)
c.7358G>T (p.Ser2453Ile)
c.7262G>T (p.Ser2421Ile)
c.7232G>T (p.Ser2411Ile)
c.7157G>T (p.Ser2386Ile)
c.7055G>T (p.Ser2352Ile)
c.6686G>T (p.Ser2229Ile)
ClinVar
5g.112843130T>ACA16037712APCc.7590T>A (p.Ser2530Arg)
c.*7542T>A (n.*7542T>A)
c.7482T>A (p.Ser2494Arg)
c.7536T>A (p.Ser2512Arg)
c.231-13519T>A
c.7566T>A (p.Ser2522Arg)
c.7461T>A (p.Ser2487Arg)
c.7452T>A (p.Ser2484Arg)
c.7413T>A (p.Ser2471Arg)
c.7359T>A (p.Ser2453Arg)
c.7263T>A (p.Ser2421Arg)
c.7233T>A (p.Ser2411Arg)
c.7158T>A (p.Ser2386Arg)
c.7056T>A (p.Ser2352Arg)
c.6687T>A (p.Ser2229Arg)
ClinVar
5g.112843130T>CCA013781APCc.7590T>C (p.Ser2530=)
c.*7542T>C (n.*7542T>C)
c.7482T>C (p.Ser2494=)
c.7536T>C (p.Ser2512=)
c.231-13519T>C
c.7566T>C (p.Ser2522=)
c.7461T>C (p.Ser2487=)
c.7452T>C (p.Ser2484=)
c.7413T>C (p.Ser2471=)
c.7359T>C (p.Ser2453=)
c.7263T>C (p.Ser2421=)
c.7233T>C (p.Ser2411=)
c.7158T>C (p.Ser2386=)
c.7056T>C (p.Ser2352=)
c.6687T>C (p.Ser2229=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843130T>GCA16037713APCc.7590T>G (p.Ser2530Arg)
c.*7542T>G (n.*7542T>G)
c.7482T>G (p.Ser2494Arg)
c.7536T>G (p.Ser2512Arg)
c.231-13519T>G
c.7566T>G (p.Ser2522Arg)
c.7461T>G (p.Ser2487Arg)
c.7452T>G (p.Ser2484Arg)
c.7413T>G (p.Ser2471Arg)
c.7359T>G (p.Ser2453Arg)
c.7263T>G (p.Ser2421Arg)
c.7233T>G (p.Ser2411Arg)
c.7158T>G (p.Ser2386Arg)
c.7056T>G (p.Ser2352Arg)
c.6687T>G (p.Ser2229Arg)
ClinVar dbSNP gnomAD v4
5g.112843130T=CA1573471626APCc.7590T= (p.Ser2530=)
c.*7542T= (n.*7542T=)
c.7482T= (p.Ser2494=)
c.7536T= (p.Ser2512=)
c.231-13519T=
c.7566T= (p.Ser2522=)
c.7461T= (p.Ser2487=)
c.7452T= (p.Ser2484=)
c.7413T= (p.Ser2471=)
c.7359T= (p.Ser2453=)
c.7263T= (p.Ser2421=)
c.7233T= (p.Ser2411=)
c.7158T= (p.Ser2386=)
c.7056T= (p.Ser2352=)
c.6687T= (p.Ser2229=)
5g.112843131C>ACA16037714APCc.7591C>A (p.Pro2531Thr)
c.*7543C>A (n.*7543C>A)
c.7483C>A (p.Pro2495Thr)
c.7537C>A (p.Pro2513Thr)
c.231-13518C>A
c.7567C>A (p.Pro2523Thr)
c.7462C>A (p.Pro2488Thr)
c.7453C>A (p.Pro2485Thr)
c.7414C>A (p.Pro2472Thr)
c.7360C>A (p.Pro2454Thr)
c.7264C>A (p.Pro2422Thr)
c.7234C>A (p.Pro2412Thr)
c.7159C>A (p.Pro2387Thr)
c.7057C>A (p.Pro2353Thr)
c.6688C>A (p.Pro2230Thr)
dbSNP
5g.112843131C>GCA16037715APCc.7591C>G (p.Pro2531Ala)
c.*7543C>G (n.*7543C>G)
c.7483C>G (p.Pro2495Ala)
c.7537C>G (p.Pro2513Ala)
c.231-13518C>G
c.7567C>G (p.Pro2523Ala)
c.7462C>G (p.Pro2488Ala)
c.7453C>G (p.Pro2485Ala)
c.7414C>G (p.Pro2472Ala)
c.7360C>G (p.Pro2454Ala)
c.7264C>G (p.Pro2422Ala)
c.7234C>G (p.Pro2412Ala)
c.7159C>G (p.Pro2387Ala)
c.7057C>G (p.Pro2353Ala)
c.6688C>G (p.Pro2230Ala)
ClinVar dbSNP
5g.112843131C>TCA16037716APCc.7591C>T (p.Pro2531Ser)
c.*7543C>T (n.*7543C>T)
c.7483C>T (p.Pro2495Ser)
c.7537C>T (p.Pro2513Ser)
c.231-13518C>T
c.7567C>T (p.Pro2523Ser)
c.7462C>T (p.Pro2488Ser)
c.7453C>T (p.Pro2485Ser)
c.7414C>T (p.Pro2472Ser)
c.7360C>T (p.Pro2454Ser)
c.7264C>T (p.Pro2422Ser)
c.7234C>T (p.Pro2412Ser)
c.7159C>T (p.Pro2387Ser)
c.7057C>T (p.Pro2353Ser)
c.6688C>T (p.Pro2230Ser)
dbSNP gnomAD v4
5g.112843132C>ACA16037717APCc.7592C>A (p.Pro2531His)
c.*7544C>A (n.*7544C>A)
c.7484C>A (p.Pro2495His)
c.7538C>A (p.Pro2513His)
c.231-13517C>A
c.7568C>A (p.Pro2523His)
c.7463C>A (p.Pro2488His)
c.7454C>A (p.Pro2485His)
c.7415C>A (p.Pro2472His)
c.7361C>A (p.Pro2454His)
c.7265C>A (p.Pro2422His)
c.7235C>A (p.Pro2412His)
c.7160C>A (p.Pro2387His)
c.7058C>A (p.Pro2353His)
c.6689C>A (p.Pro2230His)
dbSNP
5g.112843132C=CA1573471637APCc.7592C= (p.Pro2531=)
c.*7544C= (n.*7544C=)
c.7484C= (p.Pro2495=)
c.7538C= (p.Pro2513=)
c.231-13517C=
c.7568C= (p.Pro2523=)
c.7463C= (p.Pro2488=)
c.7454C= (p.Pro2485=)
c.7415C= (p.Pro2472=)
c.7361C= (p.Pro2454=)
c.7265C= (p.Pro2422=)
c.7235C= (p.Pro2412=)
c.7160C= (p.Pro2387=)
c.7058C= (p.Pro2353=)
c.6689C= (p.Pro2230=)
5g.112843132C>GCA16037718APCc.7592C>G (p.Pro2531Arg)
c.*7544C>G (n.*7544C>G)
c.7484C>G (p.Pro2495Arg)
c.7538C>G (p.Pro2513Arg)
c.231-13517C>G
c.7568C>G (p.Pro2523Arg)
c.7463C>G (p.Pro2488Arg)
c.7454C>G (p.Pro2485Arg)
c.7415C>G (p.Pro2472Arg)
c.7361C>G (p.Pro2454Arg)
c.7265C>G (p.Pro2422Arg)
c.7235C>G (p.Pro2412Arg)
c.7160C>G (p.Pro2387Arg)
c.7058C>G (p.Pro2353Arg)
c.6689C>G (p.Pro2230Arg)
ClinVar dbSNP
5g.112843132C>TCA16037719APCc.7592C>T (p.Pro2531Leu)
c.*7544C>T (n.*7544C>T)
c.7484C>T (p.Pro2495Leu)
c.7538C>T (p.Pro2513Leu)
c.231-13517C>T
c.7568C>T (p.Pro2523Leu)
c.7463C>T (p.Pro2488Leu)
c.7454C>T (p.Pro2485Leu)
c.7415C>T (p.Pro2472Leu)
c.7361C>T (p.Pro2454Leu)
c.7265C>T (p.Pro2422Leu)
c.7235C>T (p.Pro2412Leu)
c.7160C>T (p.Pro2387Leu)
c.7058C>T (p.Pro2353Leu)
c.6689C>T (p.Pro2230Leu)
ClinVar dbSNP
5g.112843133C>ACA446210882APCc.7593C>A (p.Pro2531=)
c.*7545C>A (n.*7545C>A)
c.7485C>A (p.Pro2495=)
c.7539C>A (p.Pro2513=)
c.231-13516C>A
c.7569C>A (p.Pro2523=)
c.7464C>A (p.Pro2488=)
c.7455C>A (p.Pro2485=)
c.7416C>A (p.Pro2472=)
c.7362C>A (p.Pro2454=)
c.7266C>A (p.Pro2422=)
c.7236C>A (p.Pro2412=)
c.7161C>A (p.Pro2387=)
c.7059C>A (p.Pro2353=)
c.6690C>A (p.Pro2230=)
dbSNP
5g.112843133C>GCA446210883APCc.7593C>G (p.Pro2531=)
c.*7545C>G (n.*7545C>G)
c.7485C>G (p.Pro2495=)
c.7539C>G (p.Pro2513=)
c.231-13516C>G
c.7569C>G (p.Pro2523=)
c.7464C>G (p.Pro2488=)
c.7455C>G (p.Pro2485=)
c.7416C>G (p.Pro2472=)
c.7362C>G (p.Pro2454=)
c.7266C>G (p.Pro2422=)
c.7236C>G (p.Pro2412=)
c.7161C>G (p.Pro2387=)
c.7059C>G (p.Pro2353=)
c.6690C>G (p.Pro2230=)
dbSNP
5g.112843133C>TCA446210884APCc.7593C>T (p.Pro2531=)
c.*7545C>T (n.*7545C>T)
c.7485C>T (p.Pro2495=)
c.7539C>T (p.Pro2513=)
c.231-13516C>T
c.7569C>T (p.Pro2523=)
c.7464C>T (p.Pro2488=)
c.7455C>T (p.Pro2485=)
c.7416C>T (p.Pro2472=)
c.7362C>T (p.Pro2454=)
c.7266C>T (p.Pro2422=)
c.7236C>T (p.Pro2412=)
c.7161C>T (p.Pro2387=)
c.7059C>T (p.Pro2353=)
c.6690C>T (p.Pro2230=)
dbSNP
5g.112843134A=CA1573471674APCc.7594A= (p.Thr2532=)
c.*7546A= (n.*7546A=)
c.7486A= (p.Thr2496=)
c.7540A= (p.Thr2514=)
c.231-13515A=
c.7570A= (p.Thr2524=)
c.7465A= (p.Thr2489=)
c.7456A= (p.Thr2486=)
c.7417A= (p.Thr2473=)
c.7363A= (p.Thr2455=)
c.7267A= (p.Thr2423=)
c.7237A= (p.Thr2413=)
c.7162A= (p.Thr2388=)
c.7060A= (p.Thr2354=)
c.6691A= (p.Thr2231=)
5g.112843134A>CCA16037720APCc.7594A>C (p.Thr2532Pro)
c.*7546A>C (n.*7546A>C)
c.7486A>C (p.Thr2496Pro)
c.7540A>C (p.Thr2514Pro)
c.231-13515A>C
c.7570A>C (p.Thr2524Pro)
c.7465A>C (p.Thr2489Pro)
c.7456A>C (p.Thr2486Pro)
c.7417A>C (p.Thr2473Pro)
c.7363A>C (p.Thr2455Pro)
c.7267A>C (p.Thr2423Pro)
c.7237A>C (p.Thr2413Pro)
c.7162A>C (p.Thr2388Pro)
c.7060A>C (p.Thr2354Pro)
c.6691A>C (p.Thr2231Pro)
ClinVar dbSNP
5g.112843134A>GCA048361APCc.7594A>G (p.Thr2532Ala)
c.*7546A>G (n.*7546A>G)
c.7486A>G (p.Thr2496Ala)
c.7540A>G (p.Thr2514Ala)
c.231-13515A>G
c.7570A>G (p.Thr2524Ala)
c.7465A>G (p.Thr2489Ala)
c.7456A>G (p.Thr2486Ala)
c.7417A>G (p.Thr2473Ala)
c.7363A>G (p.Thr2455Ala)
c.7267A>G (p.Thr2423Ala)
c.7237A>G (p.Thr2413Ala)
c.7162A>G (p.Thr2388Ala)
c.7060A>G (p.Thr2354Ala)
c.6691A>G (p.Thr2231Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843134A>TCA16037721APCc.7594A>T (p.Thr2532Ser)
c.*7546A>T (n.*7546A>T)
c.7486A>T (p.Thr2496Ser)
c.7540A>T (p.Thr2514Ser)
c.231-13515A>T
c.7570A>T (p.Thr2524Ser)
c.7465A>T (p.Thr2489Ser)
c.7456A>T (p.Thr2486Ser)
c.7417A>T (p.Thr2473Ser)
c.7363A>T (p.Thr2455Ser)
c.7267A>T (p.Thr2423Ser)
c.7237A>T (p.Thr2413Ser)
c.7162A>T (p.Thr2388Ser)
c.7060A>T (p.Thr2354Ser)
c.6691A>T (p.Thr2231Ser)
ClinVar dbSNP
5g.112843135C>ACA16037722APCc.7595C>A (p.Thr2532Asn)
c.*7547C>A (n.*7547C>A)
c.7487C>A (p.Thr2496Asn)
c.7541C>A (p.Thr2514Asn)
c.231-13514C>A
c.7571C>A (p.Thr2524Asn)
c.7466C>A (p.Thr2489Asn)
c.7457C>A (p.Thr2486Asn)
c.7418C>A (p.Thr2473Asn)
c.7364C>A (p.Thr2455Asn)
c.7268C>A (p.Thr2423Asn)
c.7238C>A (p.Thr2413Asn)
c.7163C>A (p.Thr2388Asn)
c.7061C>A (p.Thr2354Asn)
c.6692C>A (p.Thr2231Asn)
ClinVar dbSNP
5g.112843135C=CA1573471691APCc.7595C= (p.Thr2532=)
c.*7547C= (n.*7547C=)
c.7487C= (p.Thr2496=)
c.7541C= (p.Thr2514=)
c.231-13514C=
c.7571C= (p.Thr2524=)
c.7466C= (p.Thr2489=)
c.7457C= (p.Thr2486=)
c.7418C= (p.Thr2473=)
c.7364C= (p.Thr2455=)
c.7268C= (p.Thr2423=)
c.7238C= (p.Thr2413=)
c.7163C= (p.Thr2388=)
c.7061C= (p.Thr2354=)
c.6692C= (p.Thr2231=)
5g.112843135C>GCA048379APCc.7595C>G (p.Thr2532Ser)
c.*7547C>G (n.*7547C>G)
c.7487C>G (p.Thr2496Ser)
c.7541C>G (p.Thr2514Ser)
c.231-13514C>G
c.7571C>G (p.Thr2524Ser)
c.7466C>G (p.Thr2489Ser)
c.7457C>G (p.Thr2486Ser)
c.7418C>G (p.Thr2473Ser)
c.7364C>G (p.Thr2455Ser)
c.7268C>G (p.Thr2423Ser)
c.7238C>G (p.Thr2413Ser)
c.7163C>G (p.Thr2388Ser)
c.7061C>G (p.Thr2354Ser)
c.6692C>G (p.Thr2231Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843135C>TCA16037723APCc.7595C>T (p.Thr2532Ile)
c.*7547C>T (n.*7547C>T)
c.7487C>T (p.Thr2496Ile)
c.7541C>T (p.Thr2514Ile)
c.231-13514C>T
c.7571C>T (p.Thr2524Ile)
c.7466C>T (p.Thr2489Ile)
c.7457C>T (p.Thr2486Ile)
c.7418C>T (p.Thr2473Ile)
c.7364C>T (p.Thr2455Ile)
c.7268C>T (p.Thr2423Ile)
c.7238C>T (p.Thr2413Ile)
c.7163C>T (p.Thr2388Ile)
c.7061C>T (p.Thr2354Ile)
c.6692C>T (p.Thr2231Ile)
dbSNP gnomAD v4
5g.112843136T>ACA446210885APCc.7596T>A (p.Thr2532=)
c.*7548T>A (n.*7548T>A)
c.7488T>A (p.Thr2496=)
c.7542T>A (p.Thr2514=)
c.231-13513T>A
c.7572T>A (p.Thr2524=)
c.7467T>A (p.Thr2489=)
c.7458T>A (p.Thr2486=)
c.7419T>A (p.Thr2473=)
c.7365T>A (p.Thr2455=)
c.7269T>A (p.Thr2423=)
c.7239T>A (p.Thr2413=)
c.7164T>A (p.Thr2388=)
c.7062T>A (p.Thr2354=)
c.6693T>A (p.Thr2231=)
ClinVar dbSNP
5g.112843136T>CCA446210886APCc.7596T>C (p.Thr2532=)
c.*7548T>C (n.*7548T>C)
c.7488T>C (p.Thr2496=)
c.7542T>C (p.Thr2514=)
c.231-13513T>C
c.7572T>C (p.Thr2524=)
c.7467T>C (p.Thr2489=)
c.7458T>C (p.Thr2486=)
c.7419T>C (p.Thr2473=)
c.7365T>C (p.Thr2455=)
c.7269T>C (p.Thr2423=)
c.7239T>C (p.Thr2413=)
c.7164T>C (p.Thr2388=)
c.7062T>C (p.Thr2354=)
c.6693T>C (p.Thr2231=)
dbSNP gnomAD v4
5g.112843136T>GCA446210887APCc.7596T>G (p.Thr2532=)
c.*7548T>G (n.*7548T>G)
c.7488T>G (p.Thr2496=)
c.7542T>G (p.Thr2514=)
c.231-13513T>G
c.7572T>G (p.Thr2524=)
c.7467T>G (p.Thr2489=)
c.7458T>G (p.Thr2486=)
c.7419T>G (p.Thr2473=)
c.7365T>G (p.Thr2455=)
c.7269T>G (p.Thr2423=)
c.7239T>G (p.Thr2413=)
c.7164T>G (p.Thr2388=)
c.7062T>G (p.Thr2354=)
c.6693T>G (p.Thr2231=)
5g.112843137A=CA1573471709APCc.7597A= (p.Ile2533=)
c.*7549A= (n.*7549A=)
c.7489A= (p.Ile2497=)
c.7543A= (p.Ile2515=)
c.231-13512A=
c.7573A= (p.Ile2525=)
c.7468A= (p.Ile2490=)
c.7459A= (p.Ile2487=)
c.7420A= (p.Ile2474=)
c.7366A= (p.Ile2456=)
c.7270A= (p.Ile2424=)
c.7240A= (p.Ile2414=)
c.7165A= (p.Ile2389=)
c.7063A= (p.Ile2355=)
c.6694A= (p.Ile2232=)
5g.112843137A>CCA16037724APCc.7597A>C (p.Ile2533Leu)
c.*7549A>C (n.*7549A>C)
c.7489A>C (p.Ile2497Leu)
c.7543A>C (p.Ile2515Leu)
c.231-13512A>C
c.7573A>C (p.Ile2525Leu)
c.7468A>C (p.Ile2490Leu)
c.7459A>C (p.Ile2487Leu)
c.7420A>C (p.Ile2474Leu)
c.7366A>C (p.Ile2456Leu)
c.7270A>C (p.Ile2424Leu)
c.7240A>C (p.Ile2414Leu)
c.7165A>C (p.Ile2389Leu)
c.7063A>C (p.Ile2355Leu)
c.6694A>C (p.Ile2232Leu)
ClinVar dbSNP
5g.112843137A>GCA013792APCc.7597A>G (p.Ile2533Val)
c.*7549A>G (n.*7549A>G)
c.7489A>G (p.Ile2497Val)
c.7543A>G (p.Ile2515Val)
c.231-13512A>G
c.7573A>G (p.Ile2525Val)
c.7468A>G (p.Ile2490Val)
c.7459A>G (p.Ile2487Val)
c.7420A>G (p.Ile2474Val)
c.7366A>G (p.Ile2456Val)
c.7270A>G (p.Ile2424Val)
c.7240A>G (p.Ile2414Val)
c.7165A>G (p.Ile2389Val)
c.7063A>G (p.Ile2355Val)
c.6694A>G (p.Ile2232Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112843137A>TCA16037725APCc.7597A>T (p.Ile2533Leu)
c.*7549A>T (n.*7549A>T)
c.7489A>T (p.Ile2497Leu)
c.7543A>T (p.Ile2515Leu)
c.231-13512A>T
c.7573A>T (p.Ile2525Leu)
c.7468A>T (p.Ile2490Leu)
c.7459A>T (p.Ile2487Leu)
c.7420A>T (p.Ile2474Leu)
c.7366A>T (p.Ile2456Leu)
c.7270A>T (p.Ile2424Leu)
c.7240A>T (p.Ile2414Leu)
c.7165A>T (p.Ile2389Leu)
c.7063A>T (p.Ile2355Leu)
c.6694A>T (p.Ile2232Leu)
dbSNP
5g.112843138T>ACA16037726APCc.7598T>A (p.Ile2533Lys)
c.*7550T>A (n.*7550T>A)
c.7490T>A (p.Ile2497Lys)
c.7544T>A (p.Ile2515Lys)
c.231-13511T>A
c.7574T>A (p.Ile2525Lys)
c.7469T>A (p.Ile2490Lys)
c.7460T>A (p.Ile2487Lys)
c.7421T>A (p.Ile2474Lys)
c.7367T>A (p.Ile2456Lys)
c.7271T>A (p.Ile2424Lys)
c.7241T>A (p.Ile2414Lys)
c.7166T>A (p.Ile2389Lys)
c.7064T>A (p.Ile2355Lys)
c.6695T>A (p.Ile2232Lys)
dbSNP
5g.112843138T>CCA16037727APCc.7598T>C (p.Ile2533Thr)
c.*7550T>C (n.*7550T>C)
c.7490T>C (p.Ile2497Thr)
c.7544T>C (p.Ile2515Thr)
c.231-13511T>C
c.7574T>C (p.Ile2525Thr)
c.7469T>C (p.Ile2490Thr)
c.7460T>C (p.Ile2487Thr)
c.7421T>C (p.Ile2474Thr)
c.7367T>C (p.Ile2456Thr)
c.7271T>C (p.Ile2424Thr)
c.7241T>C (p.Ile2414Thr)
c.7166T>C (p.Ile2389Thr)
c.7064T>C (p.Ile2355Thr)
c.6695T>C (p.Ile2232Thr)
dbSNP
5g.112843138T>GCA16037728APCc.7598T>G (p.Ile2533Arg)
c.*7550T>G (n.*7550T>G)
c.7490T>G (p.Ile2497Arg)
c.7544T>G (p.Ile2515Arg)
c.231-13511T>G
c.7574T>G (p.Ile2525Arg)
c.7469T>G (p.Ile2490Arg)
c.7460T>G (p.Ile2487Arg)
c.7421T>G (p.Ile2474Arg)
c.7367T>G (p.Ile2456Arg)
c.7271T>G (p.Ile2424Arg)
c.7241T>G (p.Ile2414Arg)
c.7166T>G (p.Ile2389Arg)
c.7064T>G (p.Ile2355Arg)
c.6695T>G (p.Ile2232Arg)
ClinVar dbSNP
5g.112843138T=CA1573471720APCc.7598T= (p.Ile2533=)
c.*7550T= (n.*7550T=)
c.7490T= (p.Ile2497=)
c.7544T= (p.Ile2515=)
c.231-13511T=
c.7574T= (p.Ile2525=)
c.7469T= (p.Ile2490=)
c.7460T= (p.Ile2487=)
c.7421T= (p.Ile2474=)
c.7367T= (p.Ile2456=)
c.7271T= (p.Ile2424=)
c.7241T= (p.Ile2414=)
c.7166T= (p.Ile2389=)
c.7064T= (p.Ile2355=)
c.6695T= (p.Ile2232=)
5g.112843139A=CA1573471732APCc.7599A= (p.Ile2533=)
c.*7551A= (n.*7551A=)
c.7491A= (p.Ile2497=)
c.7545A= (p.Ile2515=)
c.231-13510A=
c.7575A= (p.Ile2525=)
c.7470A= (p.Ile2490=)
c.7461A= (p.Ile2487=)
c.7422A= (p.Ile2474=)
c.7368A= (p.Ile2456=)
c.7272A= (p.Ile2424=)
c.7242A= (p.Ile2414=)
c.7167A= (p.Ile2389=)
c.7065A= (p.Ile2355=)
c.6696A= (p.Ile2232=)
5g.112843139A>CCA446210888APCc.7599A>C (p.Ile2533=)
c.*7551A>C (n.*7551A>C)
c.7491A>C (p.Ile2497=)
c.7545A>C (p.Ile2515=)
c.231-13510A>C
c.7575A>C (p.Ile2525=)
c.7470A>C (p.Ile2490=)
c.7461A>C (p.Ile2487=)
c.7422A>C (p.Ile2474=)
c.7368A>C (p.Ile2456=)
c.7272A>C (p.Ile2424=)
c.7242A>C (p.Ile2414=)
c.7167A>C (p.Ile2389=)
c.7065A>C (p.Ile2355=)
c.6696A>C (p.Ile2232=)
5g.112843139A>GCA16037729APCc.7599A>G (p.Ile2533Met)
c.*7551A>G (n.*7551A>G)
c.7491A>G (p.Ile2497Met)
c.7545A>G (p.Ile2515Met)
c.231-13510A>G
c.7575A>G (p.Ile2525Met)
c.7470A>G (p.Ile2490Met)
c.7461A>G (p.Ile2487Met)
c.7422A>G (p.Ile2474Met)
c.7368A>G (p.Ile2456Met)
c.7272A>G (p.Ile2424Met)
c.7242A>G (p.Ile2414Met)
c.7167A>G (p.Ile2389Met)
c.7065A>G (p.Ile2355Met)
c.6696A>G (p.Ile2232Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843139A>TCA446210889APCc.7599A>T (p.Ile2533=)
c.*7551A>T (n.*7551A>T)
c.7491A>T (p.Ile2497=)
c.7545A>T (p.Ile2515=)
c.231-13510A>T
c.7575A>T (p.Ile2525=)
c.7470A>T (p.Ile2490=)
c.7461A>T (p.Ile2487=)
c.7422A>T (p.Ile2474=)
c.7368A>T (p.Ile2456=)
c.7272A>T (p.Ile2424=)
c.7242A>T (p.Ile2414=)
c.7167A>T (p.Ile2389=)
c.7065A>T (p.Ile2355=)
c.6696A>T (p.Ile2232=)
dbSNP
5g.112843140G>ACA16037730APCc.7600G>A (p.Glu2534Lys)
c.*7552G>A (n.*7552G>A)
c.7492G>A (p.Glu2498Lys)
c.7546G>A (p.Glu2516Lys)
c.231-13509G>A
c.7576G>A (p.Glu2526Lys)
c.7471G>A (p.Glu2491Lys)
c.7462G>A (p.Glu2488Lys)
c.7423G>A (p.Glu2475Lys)
c.7369G>A (p.Glu2457Lys)
c.7273G>A (p.Glu2425Lys)
c.7243G>A (p.Glu2415Lys)
c.7168G>A (p.Glu2390Lys)
c.7066G>A (p.Glu2356Lys)
c.6697G>A (p.Glu2233Lys)
dbSNP
5g.112843140G>CCA16037731APCc.7600G>C (p.Glu2534Gln)
c.*7552G>C (n.*7552G>C)
c.7492G>C (p.Glu2498Gln)
c.7546G>C (p.Glu2516Gln)
c.231-13509G>C
c.7576G>C (p.Glu2526Gln)
c.7471G>C (p.Glu2491Gln)
c.7462G>C (p.Glu2488Gln)
c.7423G>C (p.Glu2475Gln)
c.7369G>C (p.Glu2457Gln)
c.7273G>C (p.Glu2425Gln)
c.7243G>C (p.Glu2415Gln)
c.7168G>C (p.Glu2390Gln)
c.7066G>C (p.Glu2356Gln)
c.6697G>C (p.Glu2233Gln)
dbSNP
5g.112843140G>TCA16037732APCc.7600G>T (p.Glu2534Ter)
c.*7552G>T (n.*7552G>T)
c.7492G>T (p.Glu2498Ter)
c.7546G>T (p.Glu2516Ter)
c.231-13509G>T
c.7576G>T (p.Glu2526Ter)
c.7471G>T (p.Glu2491Ter)
c.7462G>T (p.Glu2488Ter)
c.7423G>T (p.Glu2475Ter)
c.7369G>T (p.Glu2457Ter)
c.7273G>T (p.Glu2425Ter)
c.7243G>T (p.Glu2415Ter)
c.7168G>T (p.Glu2390Ter)
c.7066G>T (p.Glu2356Ter)
c.6697G>T (p.Glu2233Ter)
dbSNP
5g.112843141A=CA1573471738APCc.7601A= (p.Glu2534=)
c.*7553A= (n.*7553A=)
c.7493A= (p.Glu2498=)
c.7547A= (p.Glu2516=)
c.231-13508A=
c.7577A= (p.Glu2526=)
c.7472A= (p.Glu2491=)
c.7463A= (p.Glu2488=)
c.7424A= (p.Glu2475=)
c.7370A= (p.Glu2457=)
c.7274A= (p.Glu2425=)
c.7244A= (p.Glu2415=)
c.7169A= (p.Glu2390=)
c.7067A= (p.Glu2356=)
c.6698A= (p.Glu2233=)
5g.112843141A>CCA16037733APCc.7601A>C (p.Glu2534Ala)
c.*7553A>C (n.*7553A>C)
c.7493A>C (p.Glu2498Ala)
c.7547A>C (p.Glu2516Ala)
c.231-13508A>C
c.7577A>C (p.Glu2526Ala)
c.7472A>C (p.Glu2491Ala)
c.7463A>C (p.Glu2488Ala)
c.7424A>C (p.Glu2475Ala)
c.7370A>C (p.Glu2457Ala)
c.7274A>C (p.Glu2425Ala)
c.7244A>C (p.Glu2415Ala)
c.7169A>C (p.Glu2390Ala)
c.7067A>C (p.Glu2356Ala)
c.6698A>C (p.Glu2233Ala)
5g.112843141A>GCA16037734APCc.7601A>G (p.Glu2534Gly)
c.*7553A>G (n.*7553A>G)
c.7493A>G (p.Glu2498Gly)
c.7547A>G (p.Glu2516Gly)
c.231-13508A>G
c.7577A>G (p.Glu2526Gly)
c.7472A>G (p.Glu2491Gly)
c.7463A>G (p.Glu2488Gly)
c.7424A>G (p.Glu2475Gly)
c.7370A>G (p.Glu2457Gly)
c.7274A>G (p.Glu2425Gly)
c.7244A>G (p.Glu2415Gly)
c.7169A>G (p.Glu2390Gly)
c.7067A>G (p.Glu2356Gly)
c.6698A>G (p.Glu2233Gly)
ClinVar dbSNP COSMIC
5g.112843141A>TCA16037735APCc.7601A>T (p.Glu2534Val)
c.*7553A>T (n.*7553A>T)
c.7493A>T (p.Glu2498Val)
c.7547A>T (p.Glu2516Val)
c.231-13508A>T
c.7577A>T (p.Glu2526Val)
c.7472A>T (p.Glu2491Val)
c.7463A>T (p.Glu2488Val)
c.7424A>T (p.Glu2475Val)
c.7370A>T (p.Glu2457Val)
c.7274A>T (p.Glu2425Val)
c.7244A>T (p.Glu2415Val)
c.7169A>T (p.Glu2390Val)
c.7067A>T (p.Glu2356Val)
c.6698A>T (p.Glu2233Val)
dbSNP
5g.112843142G>ACA446210890APCc.7602G>A (p.Glu2534=)
c.*7554G>A (n.*7554G>A)
c.7494G>A (p.Glu2498=)
c.7548G>A (p.Glu2516=)
c.231-13507G>A
c.7578G>A (p.Glu2526=)
c.7473G>A (p.Glu2491=)
c.7464G>A (p.Glu2488=)
c.7425G>A (p.Glu2475=)
c.7371G>A (p.Glu2457=)
c.7275G>A (p.Glu2425=)
c.7245G>A (p.Glu2415=)
c.7170G>A (p.Glu2390=)
c.7068G>A (p.Glu2356=)
c.6699G>A (p.Glu2233=)
ClinVar dbSNP
5g.112843142G>CCA16037736APCc.7602G>C (p.Glu2534Asp)
c.*7554G>C (n.*7554G>C)
c.7494G>C (p.Glu2498Asp)
c.7548G>C (p.Glu2516Asp)
c.231-13507G>C
c.7578G>C (p.Glu2526Asp)
c.7473G>C (p.Glu2491Asp)
c.7464G>C (p.Glu2488Asp)
c.7425G>C (p.Glu2475Asp)
c.7371G>C (p.Glu2457Asp)
c.7275G>C (p.Glu2425Asp)
c.7245G>C (p.Glu2415Asp)
c.7170G>C (p.Glu2390Asp)
c.7068G>C (p.Glu2356Asp)
c.6699G>C (p.Glu2233Asp)
dbSNP
5g.112843142G=CA1573471752APCc.7602G= (p.Glu2534=)
c.*7554G= (n.*7554G=)
c.7494G= (p.Glu2498=)
c.7548G= (p.Glu2516=)
c.231-13507G=
c.7578G= (p.Glu2526=)
c.7473G= (p.Glu2491=)
c.7464G= (p.Glu2488=)
c.7425G= (p.Glu2475=)
c.7371G= (p.Glu2457=)
c.7275G= (p.Glu2425=)
c.7245G= (p.Glu2415=)
c.7170G= (p.Glu2390=)
c.7068G= (p.Glu2356=)
c.6699G= (p.Glu2233=)
5g.112843142G>TCA16037737APCc.7602G>T (p.Glu2534Asp)
c.*7554G>T (n.*7554G>T)
c.7494G>T (p.Glu2498Asp)
c.7548G>T (p.Glu2516Asp)
c.231-13507G>T
c.7578G>T (p.Glu2526Asp)
c.7473G>T (p.Glu2491Asp)
c.7464G>T (p.Glu2488Asp)
c.7425G>T (p.Glu2475Asp)
c.7371G>T (p.Glu2457Asp)
c.7275G>T (p.Glu2425Asp)
c.7245G>T (p.Glu2415Asp)
c.7170G>T (p.Glu2390Asp)
c.7068G>T (p.Glu2356Asp)
c.6699G>T (p.Glu2233Asp)
dbSNP
5g.112843143T>ACA16037738APCc.7603T>A (p.Tyr2535Asn)
c.*7555T>A (n.*7555T>A)
c.7495T>A (p.Tyr2499Asn)
c.7549T>A (p.Tyr2517Asn)
c.231-13506T>A
c.7579T>A (p.Tyr2527Asn)
c.7474T>A (p.Tyr2492Asn)
c.7465T>A (p.Tyr2489Asn)
c.7426T>A (p.Tyr2476Asn)
c.7372T>A (p.Tyr2458Asn)
c.7276T>A (p.Tyr2426Asn)
c.7246T>A (p.Tyr2416Asn)
c.7171T>A (p.Tyr2391Asn)
c.7069T>A (p.Tyr2357Asn)
c.6700T>A (p.Tyr2234Asn)
dbSNP
5g.112843143T>CCA16037739APCc.7603T>C (p.Tyr2535His)
c.*7555T>C (n.*7555T>C)
c.7495T>C (p.Tyr2499His)
c.7549T>C (p.Tyr2517His)
c.231-13506T>C
c.7579T>C (p.Tyr2527His)
c.7474T>C (p.Tyr2492His)
c.7465T>C (p.Tyr2489His)
c.7426T>C (p.Tyr2476His)
c.7372T>C (p.Tyr2458His)
c.7276T>C (p.Tyr2426His)
c.7246T>C (p.Tyr2416His)
c.7171T>C (p.Tyr2391His)
c.7069T>C (p.Tyr2357His)
c.6700T>C (p.Tyr2234His)
dbSNP
5g.112843143T>GCA16037740APCc.7603T>G (p.Tyr2535Asp)
c.*7555T>G (n.*7555T>G)
c.7495T>G (p.Tyr2499Asp)
c.7549T>G (p.Tyr2517Asp)
c.231-13506T>G
c.7579T>G (p.Tyr2527Asp)
c.7474T>G (p.Tyr2492Asp)
c.7465T>G (p.Tyr2489Asp)
c.7426T>G (p.Tyr2476Asp)
c.7372T>G (p.Tyr2458Asp)
c.7276T>G (p.Tyr2426Asp)
c.7246T>G (p.Tyr2416Asp)
c.7171T>G (p.Tyr2391Asp)
c.7069T>G (p.Tyr2357Asp)
c.6700T>G (p.Tyr2234Asp)
dbSNP

Number of alleles fetched