Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
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)
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)
dbSNP

Number of alleles fetched