Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112840128_112843000delCA2582341313APCc.4588_7460del (p.Asp1530Ter)
c.*4540_*7412del (n.*4540_*7412del)
c.4480_7352del (p.Asp1494Ter)
c.4534_7406del (p.Asp1512Ter)
c.230+11156_231-13649del
c.4564_7436del (p.Asp1522Ter)
c.4459_7331del (p.Asp1487Ter)
c.4450_7322del (p.Asp1484Ter)
c.4411_7283del (p.Asp1471Ter)
c.4357_7229del (p.Asp1453Ter)
c.4261_7133del (p.Asp1421Ter)
c.4231_7103del (p.Asp1411Ter)
c.4156_7028del (p.Asp1386Ter)
c.4054_6926del (p.Asp1352Ter)
c.3685_6557del (p.Asp1229Ter)
 ClinVar
5g.112842989_112842992delCA915943520APCc.7449_7452del (p.Ser2484HisfsTer18)
c.*7401_*7404del (n.*7401_*7404del)
c.7341_7344del (p.Ser2448HisfsTer18)
c.7395_7398del (p.Ser2466HisfsTer18)
c.231-13660_231-13657del
c.7425_7428del (p.Ser2476HisfsTer18)
c.7320_7323del (p.Ser2441HisfsTer18)
c.7311_7314del (p.Ser2438HisfsTer18)
c.7272_7275del (p.Ser2425HisfsTer18)
c.7218_7221del (p.Ser2407HisfsTer18)
c.7122_7125del (p.Ser2375HisfsTer18)
c.7092_7095del (p.Ser2365HisfsTer18)
c.7017_7020del (p.Ser2340HisfsTer18)
c.6915_6918del (p.Ser2306HisfsTer18)
c.6546_6549del (p.Ser2183HisfsTer18)
 ClinVar dbSNP
5g.112842991C>ACA16037440APCc.7451C>A (p.Ser2484Tyr)
c.*7403C>A (n.*7403C>A)
c.7343C>A (p.Ser2448Tyr)
c.7397C>A (p.Ser2466Tyr)
c.231-13658C>A
c.7427C>A (p.Ser2476Tyr)
c.7322C>A (p.Ser2441Tyr)
c.7313C>A (p.Ser2438Tyr)
c.7274C>A (p.Ser2425Tyr)
c.7220C>A (p.Ser2407Tyr)
c.7124C>A (p.Ser2375Tyr)
c.7094C>A (p.Ser2365Tyr)
c.7019C>A (p.Ser2340Tyr)
c.6917C>A (p.Ser2306Tyr)
c.6548C>A (p.Ser2183Tyr)
 ClinVar dbSNP COSMIC
5g.112842991C=CA1573470182APCc.7451C= (p.Ser2484=)
c.*7403C= (n.*7403C=)
c.7343C= (p.Ser2448=)
c.7397C= (p.Ser2466=)
c.231-13658C=
c.7427C= (p.Ser2476=)
c.7322C= (p.Ser2441=)
c.7313C= (p.Ser2438=)
c.7274C= (p.Ser2425=)
c.7220C= (p.Ser2407=)
c.7124C= (p.Ser2375=)
c.7094C= (p.Ser2365=)
c.7019C= (p.Ser2340=)
c.6917C= (p.Ser2306=)
c.6548C= (p.Ser2183=)
5g.112842991C>GCA16037441APCc.7451C>G (p.Ser2484Cys)
c.*7403C>G (n.*7403C>G)
c.7343C>G (p.Ser2448Cys)
c.7397C>G (p.Ser2466Cys)
c.231-13658C>G
c.7427C>G (p.Ser2476Cys)
c.7322C>G (p.Ser2441Cys)
c.7313C>G (p.Ser2438Cys)
c.7274C>G (p.Ser2425Cys)
c.7220C>G (p.Ser2407Cys)
c.7124C>G (p.Ser2375Cys)
c.7094C>G (p.Ser2365Cys)
c.7019C>G (p.Ser2340Cys)
c.6917C>G (p.Ser2306Cys)
c.6548C>G (p.Ser2183Cys)
 dbSNP
5g.112842991C>TCA047929APCc.7451C>T (p.Ser2484Phe)
c.*7403C>T (n.*7403C>T)
c.7343C>T (p.Ser2448Phe)
c.7397C>T (p.Ser2466Phe)
c.231-13658C>T
c.7427C>T (p.Ser2476Phe)
c.7322C>T (p.Ser2441Phe)
c.7313C>T (p.Ser2438Phe)
c.7274C>T (p.Ser2425Phe)
c.7220C>T (p.Ser2407Phe)
c.7124C>T (p.Ser2375Phe)
c.7094C>T (p.Ser2365Phe)
c.7019C>T (p.Ser2340Phe)
c.6917C>T (p.Ser2306Phe)
c.6548C>T (p.Ser2183Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842992T>ACA446210563APCc.7452T>A (p.Ser2484=)
c.*7404T>A (n.*7404T>A)
c.7344T>A (p.Ser2448=)
c.7398T>A (p.Ser2466=)
c.231-13657T>A
c.7428T>A (p.Ser2476=)
c.7323T>A (p.Ser2441=)
c.7314T>A (p.Ser2438=)
c.7275T>A (p.Ser2425=)
c.7221T>A (p.Ser2407=)
c.7125T>A (p.Ser2375=)
c.7095T>A (p.Ser2365=)
c.7020T>A (p.Ser2340=)
c.6918T>A (p.Ser2306=)
c.6549T>A (p.Ser2183=)
 ClinVar dbSNP
5g.112842992T>CCA446210565APCc.7452T>C (p.Ser2484=)
c.*7404T>C (n.*7404T>C)
c.7344T>C (p.Ser2448=)
c.7398T>C (p.Ser2466=)
c.231-13657T>C
c.7428T>C (p.Ser2476=)
c.7323T>C (p.Ser2441=)
c.7314T>C (p.Ser2438=)
c.7275T>C (p.Ser2425=)
c.7221T>C (p.Ser2407=)
c.7125T>C (p.Ser2375=)
c.7095T>C (p.Ser2365=)
c.7020T>C (p.Ser2340=)
c.6918T>C (p.Ser2306=)
c.6549T>C (p.Ser2183=)
5g.112842992T>GCA446210566APCc.7452T>G (p.Ser2484=)
c.*7404T>G (n.*7404T>G)
c.7344T>G (p.Ser2448=)
c.7398T>G (p.Ser2466=)
c.231-13657T>G
c.7428T>G (p.Ser2476=)
c.7323T>G (p.Ser2441=)
c.7314T>G (p.Ser2438=)
c.7275T>G (p.Ser2425=)
c.7221T>G (p.Ser2407=)
c.7125T>G (p.Ser2375=)
c.7095T>G (p.Ser2365=)
c.7020T>G (p.Ser2340=)
c.6918T>G (p.Ser2306=)
c.6549T>G (p.Ser2183=)
5g.112842992T=CA1573470202APCc.7452T= (p.Ser2484=)
c.*7404T= (n.*7404T=)
c.7344T= (p.Ser2448=)
c.7398T= (p.Ser2466=)
c.231-13657T=
c.7428T= (p.Ser2476=)
c.7323T= (p.Ser2441=)
c.7314T= (p.Ser2438=)
c.7275T= (p.Ser2425=)
c.7221T= (p.Ser2407=)
c.7125T= (p.Ser2375=)
c.7095T= (p.Ser2365=)
c.7020T= (p.Ser2340=)
c.6918T= (p.Ser2306=)
c.6549T= (p.Ser2183=)
5g.112842993C>ACA013653APCc.7453C>A (p.Pro2485Thr)
c.*7405C>A (n.*7405C>A)
c.7345C>A (p.Pro2449Thr)
c.7399C>A (p.Pro2467Thr)
c.231-13656C>A
c.7429C>A (p.Pro2477Thr)
c.7324C>A (p.Pro2442Thr)
c.7315C>A (p.Pro2439Thr)
c.7276C>A (p.Pro2426Thr)
c.7222C>A (p.Pro2408Thr)
c.7126C>A (p.Pro2376Thr)
c.7096C>A (p.Pro2366Thr)
c.7021C>A (p.Pro2341Thr)
c.6919C>A (p.Pro2307Thr)
c.6550C>A (p.Pro2184Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112842993C=CA1573470219APCc.7453C= (p.Pro2485=)
c.*7405C= (n.*7405C=)
c.7345C= (p.Pro2449=)
c.7399C= (p.Pro2467=)
c.231-13656C=
c.7429C= (p.Pro2477=)
c.7324C= (p.Pro2442=)
c.7315C= (p.Pro2439=)
c.7276C= (p.Pro2426=)
c.7222C= (p.Pro2408=)
c.7126C= (p.Pro2376=)
c.7096C= (p.Pro2366=)
c.7021C= (p.Pro2341=)
c.6919C= (p.Pro2307=)
c.6550C= (p.Pro2184=)
5g.112842993C>GCA16037442APCc.7453C>G (p.Pro2485Ala)
c.*7405C>G (n.*7405C>G)
c.7345C>G (p.Pro2449Ala)
c.7399C>G (p.Pro2467Ala)
c.231-13656C>G
c.7429C>G (p.Pro2477Ala)
c.7324C>G (p.Pro2442Ala)
c.7315C>G (p.Pro2439Ala)
c.7276C>G (p.Pro2426Ala)
c.7222C>G (p.Pro2408Ala)
c.7126C>G (p.Pro2376Ala)
c.7096C>G (p.Pro2366Ala)
c.7021C>G (p.Pro2341Ala)
c.6919C>G (p.Pro2307Ala)
c.6550C>G (p.Pro2184Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842993C>TCA16037443APCc.7453C>T (p.Pro2485Ser)
c.*7405C>T (n.*7405C>T)
c.7345C>T (p.Pro2449Ser)
c.7399C>T (p.Pro2467Ser)
c.231-13656C>T
c.7429C>T (p.Pro2477Ser)
c.7324C>T (p.Pro2442Ser)
c.7315C>T (p.Pro2439Ser)
c.7276C>T (p.Pro2426Ser)
c.7222C>T (p.Pro2408Ser)
c.7126C>T (p.Pro2376Ser)
c.7096C>T (p.Pro2366Ser)
c.7021C>T (p.Pro2341Ser)
c.6919C>T (p.Pro2307Ser)
c.6550C>T (p.Pro2184Ser)
 ClinVar dbSNP gnomAD v4
5g.112842993_112842996delinsCCATCA1573470234APCc.7453_7456delinsCCAT (p.Pro2485=)
c.*7405_*7408delinsCCAT (n.*7405_*7408delinsCCAT)
c.7345_7348delinsCCAT (p.Pro2449=)
c.7399_7402delinsCCAT (p.Pro2467=)
c.231-13656_231-13653delinsCCAT
c.7429_7432delinsCCAT (p.Pro2477=)
c.7324_7327delinsCCAT (p.Pro2442=)
c.7315_7318delinsCCAT (p.Pro2439=)
c.7276_7279delinsCCAT (p.Pro2426=)
c.7222_7225delinsCCAT (p.Pro2408=)
c.7126_7129delinsCCAT (p.Pro2376=)
c.7096_7099delinsCCAT (p.Pro2366=)
c.7021_7024delinsCCAT (p.Pro2341=)
c.6919_6922delinsCCAT (p.Pro2307=)
c.6550_6553delinsCCAT (p.Pro2184=)
5g.112842994C>ACA16037444APCc.7454C>A (p.Pro2485Gln)
c.*7406C>A (n.*7406C>A)
c.7346C>A (p.Pro2449Gln)
c.7400C>A (p.Pro2467Gln)
c.231-13655C>A
c.7430C>A (p.Pro2477Gln)
c.7325C>A (p.Pro2442Gln)
c.7316C>A (p.Pro2439Gln)
c.7277C>A (p.Pro2426Gln)
c.7223C>A (p.Pro2408Gln)
c.7127C>A (p.Pro2376Gln)
c.7097C>A (p.Pro2366Gln)
c.7022C>A (p.Pro2341Gln)
c.6920C>A (p.Pro2307Gln)
c.6551C>A (p.Pro2184Gln)
 dbSNP
5g.112842994C=CA1573470260APCc.7454C= (p.Pro2485=)
c.*7406C= (n.*7406C=)
c.7346C= (p.Pro2449=)
c.7400C= (p.Pro2467=)
c.231-13655C=
c.7430C= (p.Pro2477=)
c.7325C= (p.Pro2442=)
c.7316C= (p.Pro2439=)
c.7277C= (p.Pro2426=)
c.7223C= (p.Pro2408=)
c.7127C= (p.Pro2376=)
c.7097C= (p.Pro2366=)
c.7022C= (p.Pro2341=)
c.6920C= (p.Pro2307=)
c.6551C= (p.Pro2184=)
5g.112842994C>GCA047958APCc.7454C>G (p.Pro2485Arg)
c.*7406C>G (n.*7406C>G)
c.7346C>G (p.Pro2449Arg)
c.7400C>G (p.Pro2467Arg)
c.231-13655C>G
c.7430C>G (p.Pro2477Arg)
c.7325C>G (p.Pro2442Arg)
c.7316C>G (p.Pro2439Arg)
c.7277C>G (p.Pro2426Arg)
c.7223C>G (p.Pro2408Arg)
c.7127C>G (p.Pro2376Arg)
c.7097C>G (p.Pro2366Arg)
c.7022C>G (p.Pro2341Arg)
c.6920C>G (p.Pro2307Arg)
c.6551C>G (p.Pro2184Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842994C>TCA047974APCc.7454C>T (p.Pro2485Leu)
c.*7406C>T (n.*7406C>T)
c.7346C>T (p.Pro2449Leu)
c.7400C>T (p.Pro2467Leu)
c.231-13655C>T
c.7430C>T (p.Pro2477Leu)
c.7325C>T (p.Pro2442Leu)
c.7316C>T (p.Pro2439Leu)
c.7277C>T (p.Pro2426Leu)
c.7223C>T (p.Pro2408Leu)
c.7127C>T (p.Pro2376Leu)
c.7097C>T (p.Pro2366Leu)
c.7022C>T (p.Pro2341Leu)
c.6920C>T (p.Pro2307Leu)
c.6551C>T (p.Pro2184Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842998_112843000delCA915943521APCc.7458_7460del (p.Ser2487del)
c.*7410_*7412del (n.*7410_*7412del)
c.7350_7352del (p.Ser2451del)
c.7404_7406del (p.Ser2469del)
c.231-13651_231-13649del
c.7434_7436del (p.Ser2479del)
c.7329_7331del (p.Ser2444del)
c.7320_7322del (p.Ser2441del)
c.7281_7283del (p.Ser2428del)
c.7227_7229del (p.Ser2410del)
c.7131_7133del (p.Ser2378del)
c.7101_7103del (p.Ser2368del)
c.7026_7028del (p.Ser2343del)
c.6924_6926del (p.Ser2309del)
c.6555_6557del (p.Ser2186del)
 ClinVar dbSNP gnomAD v4
5g.112842995delCA2540430963APCc.7455del (p.Ser2486HisfsTer17)
c.*7407del (n.*7407del)
c.7347del (p.Ser2450HisfsTer17)
c.7401del (p.Ser2468HisfsTer17)
c.231-13654del
c.7431del (p.Ser2478HisfsTer17)
c.7326del (p.Ser2443HisfsTer17)
c.7317del (p.Ser2440HisfsTer17)
c.7278del (p.Ser2427HisfsTer17)
c.7224del (p.Ser2409HisfsTer17)
c.7128del (p.Ser2377HisfsTer17)
c.7098del (p.Ser2367HisfsTer17)
c.7023del (p.Ser2342HisfsTer17)
c.6921del (p.Ser2308HisfsTer17)
c.6552del (p.Ser2185HisfsTer17)
5g.112842995A=CA1573470299APCc.7455A= (p.Pro2485=)
c.*7407A= (n.*7407A=)
c.7347A= (p.Pro2449=)
c.7401A= (p.Pro2467=)
c.231-13654A=
c.7431A= (p.Pro2477=)
c.7326A= (p.Pro2442=)
c.7317A= (p.Pro2439=)
c.7278A= (p.Pro2426=)
c.7224A= (p.Pro2408=)
c.7128A= (p.Pro2376=)
c.7098A= (p.Pro2366=)
c.7023A= (p.Pro2341=)
c.6921A= (p.Pro2307=)
c.6552A= (p.Pro2184=)
5g.112842995A>CCA446210567APCc.7455A>C (p.Pro2485=)
c.*7407A>C (n.*7407A>C)
c.7347A>C (p.Pro2449=)
c.7401A>C (p.Pro2467=)
c.231-13654A>C
c.7431A>C (p.Pro2477=)
c.7326A>C (p.Pro2442=)
c.7317A>C (p.Pro2439=)
c.7278A>C (p.Pro2426=)
c.7224A>C (p.Pro2408=)
c.7128A>C (p.Pro2376=)
c.7098A>C (p.Pro2366=)
c.7023A>C (p.Pro2341=)
c.6921A>C (p.Pro2307=)
c.6552A>C (p.Pro2184=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842995A>GCA446210568APCc.7455A>G (p.Pro2485=)
c.*7407A>G (n.*7407A>G)
c.7347A>G (p.Pro2449=)
c.7401A>G (p.Pro2467=)
c.231-13654A>G
c.7431A>G (p.Pro2477=)
c.7326A>G (p.Pro2442=)
c.7317A>G (p.Pro2439=)
c.7278A>G (p.Pro2426=)
c.7224A>G (p.Pro2408=)
c.7128A>G (p.Pro2376=)
c.7098A>G (p.Pro2366=)
c.7023A>G (p.Pro2341=)
c.6921A>G (p.Pro2307=)
c.6552A>G (p.Pro2184=)
 ClinVar dbSNP gnomAD v4
5g.112842995A>TCA446210569APCc.7455A>T (p.Pro2485=)
c.*7407A>T (n.*7407A>T)
c.7347A>T (p.Pro2449=)
c.7401A>T (p.Pro2467=)
c.231-13654A>T
c.7431A>T (p.Pro2477=)
c.7326A>T (p.Pro2442=)
c.7317A>T (p.Pro2439=)
c.7278A>T (p.Pro2426=)
c.7224A>T (p.Pro2408=)
c.7128A>T (p.Pro2376=)
c.7098A>T (p.Pro2366=)
c.7023A>T (p.Pro2341=)
c.6921A>T (p.Pro2307=)
c.6552A>T (p.Pro2184=)
 dbSNP
5g.112842996T>ACA16037445APCc.7456T>A (p.Ser2486Thr)
c.*7408T>A (n.*7408T>A)
c.7348T>A (p.Ser2450Thr)
c.7402T>A (p.Ser2468Thr)
c.231-13653T>A
c.7432T>A (p.Ser2478Thr)
c.7327T>A (p.Ser2443Thr)
c.7318T>A (p.Ser2440Thr)
c.7279T>A (p.Ser2427Thr)
c.7225T>A (p.Ser2409Thr)
c.7129T>A (p.Ser2377Thr)
c.7099T>A (p.Ser2367Thr)
c.7024T>A (p.Ser2342Thr)
c.6922T>A (p.Ser2308Thr)
c.6553T>A (p.Ser2185Thr)
 dbSNP
5g.112842996T>CCA013665APCc.7456T>C (p.Ser2486Pro)
c.*7408T>C (n.*7408T>C)
c.7348T>C (p.Ser2450Pro)
c.7402T>C (p.Ser2468Pro)
c.231-13653T>C
c.7432T>C (p.Ser2478Pro)
c.7327T>C (p.Ser2443Pro)
c.7318T>C (p.Ser2440Pro)
c.7279T>C (p.Ser2427Pro)
c.7225T>C (p.Ser2409Pro)
c.7129T>C (p.Ser2377Pro)
c.7099T>C (p.Ser2367Pro)
c.7024T>C (p.Ser2342Pro)
c.6922T>C (p.Ser2308Pro)
c.6553T>C (p.Ser2185Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842996T>GCA047997APCc.7456T>G (p.Ser2486Ala)
c.*7408T>G (n.*7408T>G)
c.7348T>G (p.Ser2450Ala)
c.7402T>G (p.Ser2468Ala)
c.231-13653T>G
c.7432T>G (p.Ser2478Ala)
c.7327T>G (p.Ser2443Ala)
c.7318T>G (p.Ser2440Ala)
c.7279T>G (p.Ser2427Ala)
c.7225T>G (p.Ser2409Ala)
c.7129T>G (p.Ser2377Ala)
c.7099T>G (p.Ser2367Ala)
c.7024T>G (p.Ser2342Ala)
c.6922T>G (p.Ser2308Ala)
c.6553T>G (p.Ser2185Ala)
 ClinVar dbSNP ExAC gnomAD v2
5g.112842996T=CA1573470314APCc.7456T= (p.Ser2486=)
c.*7408T= (n.*7408T=)
c.7348T= (p.Ser2450=)
c.7402T= (p.Ser2468=)
c.231-13653T=
c.7432T= (p.Ser2478=)
c.7327T= (p.Ser2443=)
c.7318T= (p.Ser2440=)
c.7279T= (p.Ser2427=)
c.7225T= (p.Ser2409=)
c.7129T= (p.Ser2377=)
c.7099T= (p.Ser2367=)
c.7024T= (p.Ser2342=)
c.6922T= (p.Ser2308=)
c.6553T= (p.Ser2185=)
5g.112842997C>ACA16037446APCc.7457C>A (p.Ser2486Ter)
c.*7409C>A (n.*7409C>A)
c.7349C>A (p.Ser2450Ter)
c.7403C>A (p.Ser2468Ter)
c.231-13652C>A
c.7433C>A (p.Ser2478Ter)
c.7328C>A (p.Ser2443Ter)
c.7319C>A (p.Ser2440Ter)
c.7280C>A (p.Ser2427Ter)
c.7226C>A (p.Ser2409Ter)
c.7130C>A (p.Ser2377Ter)
c.7100C>A (p.Ser2367Ter)
c.7025C>A (p.Ser2342Ter)
c.6923C>A (p.Ser2308Ter)
c.6554C>A (p.Ser2185Ter)
 dbSNP
5g.112842997C=CA1573470324APCc.7457C= (p.Ser2486=)
c.*7409C= (n.*7409C=)
c.7349C= (p.Ser2450=)
c.7403C= (p.Ser2468=)
c.231-13652C=
c.7433C= (p.Ser2478=)
c.7328C= (p.Ser2443=)
c.7319C= (p.Ser2440=)
c.7280C= (p.Ser2427=)
c.7226C= (p.Ser2409=)
c.7130C= (p.Ser2377=)
c.7100C= (p.Ser2367=)
c.7025C= (p.Ser2342=)
c.6923C= (p.Ser2308=)
c.6554C= (p.Ser2185=)
5g.112842997C>GCA16037447APCc.7457C>G (p.Ser2486Ter)
c.*7409C>G (n.*7409C>G)
c.7349C>G (p.Ser2450Ter)
c.7403C>G (p.Ser2468Ter)
c.231-13652C>G
c.7433C>G (p.Ser2478Ter)
c.7328C>G (p.Ser2443Ter)
c.7319C>G (p.Ser2440Ter)
c.7280C>G (p.Ser2427Ter)
c.7226C>G (p.Ser2409Ter)
c.7130C>G (p.Ser2377Ter)
c.7100C>G (p.Ser2367Ter)
c.7025C>G (p.Ser2342Ter)
c.6923C>G (p.Ser2308Ter)
c.6554C>G (p.Ser2185Ter)
 ClinVar dbSNP
5g.112842997C>TCA16037448APCc.7457C>T (p.Ser2486Leu)
c.*7409C>T (n.*7409C>T)
c.7349C>T (p.Ser2450Leu)
c.7403C>T (p.Ser2468Leu)
c.231-13652C>T
c.7433C>T (p.Ser2478Leu)
c.7328C>T (p.Ser2443Leu)
c.7319C>T (p.Ser2440Leu)
c.7280C>T (p.Ser2427Leu)
c.7226C>T (p.Ser2409Leu)
c.7130C>T (p.Ser2377Leu)
c.7100C>T (p.Ser2367Leu)
c.7025C>T (p.Ser2342Leu)
c.6923C>T (p.Ser2308Leu)
c.6554C>T (p.Ser2185Leu)
 ClinVar dbSNP
5g.112842997_112842998delCA2516041733APCc.7457_7458del (p.Ser2486PhefsTer2)
c.*7409_*7410del (n.*7409_*7410del)
c.7349_7350del (p.Ser2450PhefsTer2)
c.7403_7404del (p.Ser2468PhefsTer2)
c.231-13652_231-13651del
c.7433_7434del (p.Ser2478PhefsTer2)
c.7328_7329del (p.Ser2443PhefsTer2)
c.7319_7320del (p.Ser2440PhefsTer2)
c.7280_7281del (p.Ser2427PhefsTer2)
c.7226_7227del (p.Ser2409PhefsTer2)
c.7130_7131del (p.Ser2377PhefsTer2)
c.7100_7101del (p.Ser2367PhefsTer2)
c.7025_7026del (p.Ser2342PhefsTer2)
c.6923_6924del (p.Ser2308PhefsTer2)
c.6554_6555del (p.Ser2185PhefsTer2)
5g.112842998A=CA1573470341APCc.7458A= (p.Ser2486=)
c.*7410A= (n.*7410A=)
c.7350A= (p.Ser2450=)
c.7404A= (p.Ser2468=)
c.231-13651A=
c.7434A= (p.Ser2478=)
c.7329A= (p.Ser2443=)
c.7320A= (p.Ser2440=)
c.7281A= (p.Ser2427=)
c.7227A= (p.Ser2409=)
c.7131A= (p.Ser2377=)
c.7101A= (p.Ser2367=)
c.7026A= (p.Ser2342=)
c.6924A= (p.Ser2308=)
c.6555A= (p.Ser2185=)
5g.112842998A>CCA446210571APCc.7458A>C (p.Ser2486=)
c.*7410A>C (n.*7410A>C)
c.7350A>C (p.Ser2450=)
c.7404A>C (p.Ser2468=)
c.231-13651A>C
c.7434A>C (p.Ser2478=)
c.7329A>C (p.Ser2443=)
c.7320A>C (p.Ser2440=)
c.7281A>C (p.Ser2427=)
c.7227A>C (p.Ser2409=)
c.7131A>C (p.Ser2377=)
c.7101A>C (p.Ser2367=)
c.7026A>C (p.Ser2342=)
c.6924A>C (p.Ser2308=)
c.6555A>C (p.Ser2185=)
5g.112842998A>GCA338623APCc.7458A>G (p.Ser2486=)
c.*7410A>G (n.*7410A>G)
c.7350A>G (p.Ser2450=)
c.7404A>G (p.Ser2468=)
c.231-13651A>G
c.7434A>G (p.Ser2478=)
c.7329A>G (p.Ser2443=)
c.7320A>G (p.Ser2440=)
c.7281A>G (p.Ser2427=)
c.7227A>G (p.Ser2409=)
c.7131A>G (p.Ser2377=)
c.7101A>G (p.Ser2367=)
c.7026A>G (p.Ser2342=)
c.6924A>G (p.Ser2308=)
c.6555A>G (p.Ser2185=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842998A>TCA446210575APCc.7458A>T (p.Ser2486=)
c.*7410A>T (n.*7410A>T)
c.7350A>T (p.Ser2450=)
c.7404A>T (p.Ser2468=)
c.231-13651A>T
c.7434A>T (p.Ser2478=)
c.7329A>T (p.Ser2443=)
c.7320A>T (p.Ser2440=)
c.7281A>T (p.Ser2427=)
c.7227A>T (p.Ser2409=)
c.7131A>T (p.Ser2377=)
c.7101A>T (p.Ser2367=)
c.7026A>T (p.Ser2342=)
c.6924A>T (p.Ser2308=)
c.6555A>T (p.Ser2185=)
 ClinVar dbSNP
5g.112842999T>ACA16037449APCc.7459T>A (p.Ser2487Thr)
c.*7411T>A (n.*7411T>A)
c.7351T>A (p.Ser2451Thr)
c.7405T>A (p.Ser2469Thr)
c.231-13650T>A
c.7435T>A (p.Ser2479Thr)
c.7330T>A (p.Ser2444Thr)
c.7321T>A (p.Ser2441Thr)
c.7282T>A (p.Ser2428Thr)
c.7228T>A (p.Ser2410Thr)
c.7132T>A (p.Ser2378Thr)
c.7102T>A (p.Ser2368Thr)
c.7027T>A (p.Ser2343Thr)
c.6925T>A (p.Ser2309Thr)
c.6556T>A (p.Ser2186Thr)
 ClinVar dbSNP
5g.112842999T>CCA16037450APCc.7459T>C (p.Ser2487Pro)
c.*7411T>C (n.*7411T>C)
c.7351T>C (p.Ser2451Pro)
c.7405T>C (p.Ser2469Pro)
c.231-13650T>C
c.7435T>C (p.Ser2479Pro)
c.7330T>C (p.Ser2444Pro)
c.7321T>C (p.Ser2441Pro)
c.7282T>C (p.Ser2428Pro)
c.7228T>C (p.Ser2410Pro)
c.7132T>C (p.Ser2378Pro)
c.7102T>C (p.Ser2368Pro)
c.7027T>C (p.Ser2343Pro)
c.6925T>C (p.Ser2309Pro)
c.6556T>C (p.Ser2186Pro)
 ClinVar dbSNP
5g.112842999T>GCA16037451APCc.7459T>G (p.Ser2487Ala)
c.*7411T>G (n.*7411T>G)
c.7351T>G (p.Ser2451Ala)
c.7405T>G (p.Ser2469Ala)
c.231-13650T>G
c.7435T>G (p.Ser2479Ala)
c.7330T>G (p.Ser2444Ala)
c.7321T>G (p.Ser2441Ala)
c.7282T>G (p.Ser2428Ala)
c.7228T>G (p.Ser2410Ala)
c.7132T>G (p.Ser2378Ala)
c.7102T>G (p.Ser2368Ala)
c.7027T>G (p.Ser2343Ala)
c.6925T>G (p.Ser2309Ala)
c.6556T>G (p.Ser2186Ala)
5g.112842999T=CA1573470354APCc.7459T= (p.Ser2487=)
c.*7411T= (n.*7411T=)
c.7351T= (p.Ser2451=)
c.7405T= (p.Ser2469=)
c.231-13650T=
c.7435T= (p.Ser2479=)
c.7330T= (p.Ser2444=)
c.7321T= (p.Ser2441=)
c.7282T= (p.Ser2428=)
c.7228T= (p.Ser2410=)
c.7132T= (p.Ser2378=)
c.7102T= (p.Ser2368=)
c.7027T= (p.Ser2343=)
c.6925T= (p.Ser2309=)
c.6556T= (p.Ser2186=)
5g.112843000C>ACA16037452APCc.7460C>A (p.Ser2487Tyr)
c.*7412C>A (n.*7412C>A)
c.7352C>A (p.Ser2451Tyr)
c.7406C>A (p.Ser2469Tyr)
c.231-13649C>A
c.7436C>A (p.Ser2479Tyr)
c.7331C>A (p.Ser2444Tyr)
c.7322C>A (p.Ser2441Tyr)
c.7283C>A (p.Ser2428Tyr)
c.7229C>A (p.Ser2410Tyr)
c.7133C>A (p.Ser2378Tyr)
c.7103C>A (p.Ser2368Tyr)
c.7028C>A (p.Ser2343Tyr)
c.6926C>A (p.Ser2309Tyr)
c.6557C>A (p.Ser2186Tyr)
 ClinVar dbSNP
5g.112843000C=CA1573470374APCc.7460C= (p.Ser2487=)
c.*7412C= (n.*7412C=)
c.7352C= (p.Ser2451=)
c.7406C= (p.Ser2469=)
c.231-13649C=
c.7436C= (p.Ser2479=)
c.7331C= (p.Ser2444=)
c.7322C= (p.Ser2441=)
c.7283C= (p.Ser2428=)
c.7229C= (p.Ser2410=)
c.7133C= (p.Ser2378=)
c.7103C= (p.Ser2368=)
c.7028C= (p.Ser2343=)
c.6926C= (p.Ser2309=)
c.6557C= (p.Ser2186=)
5g.112843000C>GCA16037453APCc.7460C>G (p.Ser2487Cys)
c.*7412C>G (n.*7412C>G)
c.7352C>G (p.Ser2451Cys)
c.7406C>G (p.Ser2469Cys)
c.231-13649C>G
c.7436C>G (p.Ser2479Cys)
c.7331C>G (p.Ser2444Cys)
c.7322C>G (p.Ser2441Cys)
c.7283C>G (p.Ser2428Cys)
c.7229C>G (p.Ser2410Cys)
c.7133C>G (p.Ser2378Cys)
c.7103C>G (p.Ser2368Cys)
c.7028C>G (p.Ser2343Cys)
c.6926C>G (p.Ser2309Cys)
c.6557C>G (p.Ser2186Cys)
 ClinVar dbSNP
5g.112843000C>TCA16037454APCc.7460C>T (p.Ser2487Phe)
c.*7412C>T (n.*7412C>T)
c.7352C>T (p.Ser2451Phe)
c.7406C>T (p.Ser2469Phe)
c.231-13649C>T
c.7436C>T (p.Ser2479Phe)
c.7331C>T (p.Ser2444Phe)
c.7322C>T (p.Ser2441Phe)
c.7283C>T (p.Ser2428Phe)
c.7229C>T (p.Ser2410Phe)
c.7133C>T (p.Ser2378Phe)
c.7103C>T (p.Ser2368Phe)
c.7028C>T (p.Ser2343Phe)
c.6926C>T (p.Ser2309Phe)
c.6557C>T (p.Ser2186Phe)
 dbSNP COSMIC
5g.112843001T>ACA446210577APCc.7461T>A (p.Ser2487=)
c.*7413T>A (n.*7413T>A)
c.7353T>A (p.Ser2451=)
c.7407T>A (p.Ser2469=)
c.231-13648T>A
c.7437T>A (p.Ser2479=)
c.7332T>A (p.Ser2444=)
c.7323T>A (p.Ser2441=)
c.7284T>A (p.Ser2428=)
c.7230T>A (p.Ser2410=)
c.7134T>A (p.Ser2378=)
c.7104T>A (p.Ser2368=)
c.7029T>A (p.Ser2343=)
c.6927T>A (p.Ser2309=)
c.6558T>A (p.Ser2186=)
 ClinVar dbSNP
5g.112843001T>CCA446210580APCc.7461T>C (p.Ser2487=)
c.*7413T>C (n.*7413T>C)
c.7353T>C (p.Ser2451=)
c.7407T>C (p.Ser2469=)
c.231-13648T>C
c.7437T>C (p.Ser2479=)
c.7332T>C (p.Ser2444=)
c.7323T>C (p.Ser2441=)
c.7284T>C (p.Ser2428=)
c.7230T>C (p.Ser2410=)
c.7134T>C (p.Ser2378=)
c.7104T>C (p.Ser2368=)
c.7029T>C (p.Ser2343=)
c.6927T>C (p.Ser2309=)
c.6558T>C (p.Ser2186=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843001T>GCA446210579APCc.7461T>G (p.Ser2487=)
c.*7413T>G (n.*7413T>G)
c.7353T>G (p.Ser2451=)
c.7407T>G (p.Ser2469=)
c.231-13648T>G
c.7437T>G (p.Ser2479=)
c.7332T>G (p.Ser2444=)
c.7323T>G (p.Ser2441=)
c.7284T>G (p.Ser2428=)
c.7230T>G (p.Ser2410=)
c.7134T>G (p.Ser2378=)
c.7104T>G (p.Ser2368=)
c.7029T>G (p.Ser2343=)
c.6927T>G (p.Ser2309=)
c.6558T>G (p.Ser2186=)
5g.112843001T=CA1573470391APCc.7461T= (p.Ser2487=)
c.*7413T= (n.*7413T=)
c.7353T= (p.Ser2451=)
c.7407T= (p.Ser2469=)
c.231-13648T=
c.7437T= (p.Ser2479=)
c.7332T= (p.Ser2444=)
c.7323T= (p.Ser2441=)
c.7284T= (p.Ser2428=)
c.7230T= (p.Ser2410=)
c.7134T= (p.Ser2378=)
c.7104T= (p.Ser2368=)
c.7029T= (p.Ser2343=)
c.6927T= (p.Ser2309=)
c.6558T= (p.Ser2186=)
5g.112843002A>CCA446210582APCc.7462A>C (p.Arg2488=)
c.*7414A>C (n.*7414A>C)
c.7354A>C (p.Arg2452=)
c.7408A>C (p.Arg2470=)
c.231-13647A>C
c.7438A>C (p.Arg2480=)
c.7333A>C (p.Arg2445=)
c.7324A>C (p.Arg2442=)
c.7285A>C (p.Arg2429=)
c.7231A>C (p.Arg2411=)
c.7135A>C (p.Arg2379=)
c.7105A>C (p.Arg2369=)
c.7030A>C (p.Arg2344=)
c.6928A>C (p.Arg2310=)
c.6559A>C (p.Arg2187=)
 dbSNP
5g.112843002A>GCA16037455APCc.7462A>G (p.Arg2488Gly)
c.*7414A>G (n.*7414A>G)
c.7354A>G (p.Arg2452Gly)
c.7408A>G (p.Arg2470Gly)
c.231-13647A>G
c.7438A>G (p.Arg2480Gly)
c.7333A>G (p.Arg2445Gly)
c.7324A>G (p.Arg2442Gly)
c.7285A>G (p.Arg2429Gly)
c.7231A>G (p.Arg2411Gly)
c.7135A>G (p.Arg2379Gly)
c.7105A>G (p.Arg2369Gly)
c.7030A>G (p.Arg2344Gly)
c.6928A>G (p.Arg2310Gly)
c.6559A>G (p.Arg2187Gly)
 COSMIC
5g.112843002A>TCA16037456APCc.7462A>T (p.Arg2488Ter)
c.*7414A>T (n.*7414A>T)
c.7354A>T (p.Arg2452Ter)
c.7408A>T (p.Arg2470Ter)
c.231-13647A>T
c.7438A>T (p.Arg2480Ter)
c.7333A>T (p.Arg2445Ter)
c.7324A>T (p.Arg2442Ter)
c.7285A>T (p.Arg2429Ter)
c.7231A>T (p.Arg2411Ter)
c.7135A>T (p.Arg2379Ter)
c.7105A>T (p.Arg2369Ter)
c.7030A>T (p.Arg2344Ter)
c.6928A>T (p.Arg2310Ter)
c.6559A>T (p.Arg2187Ter)
 dbSNP
5g.112843003G>ACA16037457APCc.7463G>A (p.Arg2488Lys)
c.*7415G>A (n.*7415G>A)
c.7355G>A (p.Arg2452Lys)
c.7409G>A (p.Arg2470Lys)
c.231-13646G>A
c.7439G>A (p.Arg2480Lys)
c.7334G>A (p.Arg2445Lys)
c.7325G>A (p.Arg2442Lys)
c.7286G>A (p.Arg2429Lys)
c.7232G>A (p.Arg2411Lys)
c.7136G>A (p.Arg2379Lys)
c.7106G>A (p.Arg2369Lys)
c.7031G>A (p.Arg2344Lys)
c.6929G>A (p.Arg2310Lys)
c.6560G>A (p.Arg2187Lys)
 dbSNP
5g.112843003G>CCA16037458APCc.7463G>C (p.Arg2488Thr)
c.*7415G>C (n.*7415G>C)
c.7355G>C (p.Arg2452Thr)
c.7409G>C (p.Arg2470Thr)
c.231-13646G>C
c.7439G>C (p.Arg2480Thr)
c.7334G>C (p.Arg2445Thr)
c.7325G>C (p.Arg2442Thr)
c.7286G>C (p.Arg2429Thr)
c.7232G>C (p.Arg2411Thr)
c.7136G>C (p.Arg2379Thr)
c.7106G>C (p.Arg2369Thr)
c.7031G>C (p.Arg2344Thr)
c.6929G>C (p.Arg2310Thr)
c.6560G>C (p.Arg2187Thr)
 dbSNP
5g.112843003G>TCA16037459APCc.7463G>T (p.Arg2488Ile)
c.*7415G>T (n.*7415G>T)
c.7355G>T (p.Arg2452Ile)
c.7409G>T (p.Arg2470Ile)
c.231-13646G>T
c.7439G>T (p.Arg2480Ile)
c.7334G>T (p.Arg2445Ile)
c.7325G>T (p.Arg2442Ile)
c.7286G>T (p.Arg2429Ile)
c.7232G>T (p.Arg2411Ile)
c.7136G>T (p.Arg2379Ile)
c.7106G>T (p.Arg2369Ile)
c.7031G>T (p.Arg2344Ile)
c.6929G>T (p.Arg2310Ile)
c.6560G>T (p.Arg2187Ile)
 ClinVar dbSNP
5g.112843004A>CCA16037460APCc.7464A>C (p.Arg2488Ser)
c.*7416A>C (n.*7416A>C)
c.7356A>C (p.Arg2452Ser)
c.7410A>C (p.Arg2470Ser)
c.231-13645A>C
c.7440A>C (p.Arg2480Ser)
c.7335A>C (p.Arg2445Ser)
c.7326A>C (p.Arg2442Ser)
c.7287A>C (p.Arg2429Ser)
c.7233A>C (p.Arg2411Ser)
c.7137A>C (p.Arg2379Ser)
c.7107A>C (p.Arg2369Ser)
c.7032A>C (p.Arg2344Ser)
c.6930A>C (p.Arg2310Ser)
c.6561A>C (p.Arg2187Ser)
5g.112843004A>GCA446210584APCc.7464A>G (p.Arg2488=)
c.*7416A>G (n.*7416A>G)
c.7356A>G (p.Arg2452=)
c.7410A>G (p.Arg2470=)
c.231-13645A>G
c.7440A>G (p.Arg2480=)
c.7335A>G (p.Arg2445=)
c.7326A>G (p.Arg2442=)
c.7287A>G (p.Arg2429=)
c.7233A>G (p.Arg2411=)
c.7137A>G (p.Arg2379=)
c.7107A>G (p.Arg2369=)
c.7032A>G (p.Arg2344=)
c.6930A>G (p.Arg2310=)
c.6561A>G (p.Arg2187=)
5g.112843004A>TCA16037461APCc.7464A>T (p.Arg2488Ser)
c.*7416A>T (n.*7416A>T)
c.7356A>T (p.Arg2452Ser)
c.7410A>T (p.Arg2470Ser)
c.231-13645A>T
c.7440A>T (p.Arg2480Ser)
c.7335A>T (p.Arg2445Ser)
c.7326A>T (p.Arg2442Ser)
c.7287A>T (p.Arg2429Ser)
c.7233A>T (p.Arg2411Ser)
c.7137A>T (p.Arg2379Ser)
c.7107A>T (p.Arg2369Ser)
c.7032A>T (p.Arg2344Ser)
c.6930A>T (p.Arg2310Ser)
c.6561A>T (p.Arg2187Ser)
 ClinVar
5g.112843005C>ACA16037462APCc.7465C>A (p.Pro2489Thr)
c.*7417C>A (n.*7417C>A)
c.7357C>A (p.Pro2453Thr)
c.7411C>A (p.Pro2471Thr)
c.231-13644C>A
c.7441C>A (p.Pro2481Thr)
c.7336C>A (p.Pro2446Thr)
c.7327C>A (p.Pro2443Thr)
c.7288C>A (p.Pro2430Thr)
c.7234C>A (p.Pro2412Thr)
c.7138C>A (p.Pro2380Thr)
c.7108C>A (p.Pro2370Thr)
c.7033C>A (p.Pro2345Thr)
c.6931C>A (p.Pro2311Thr)
c.6562C>A (p.Pro2188Thr)
 dbSNP gnomAD v2 gnomAD v4
5g.112843005C=CA1573470419APCc.7465C= (p.Pro2489=)
c.*7417C= (n.*7417C=)
c.7357C= (p.Pro2453=)
c.7411C= (p.Pro2471=)
c.231-13644C=
c.7441C= (p.Pro2481=)
c.7336C= (p.Pro2446=)
c.7327C= (p.Pro2443=)
c.7288C= (p.Pro2430=)
c.7234C= (p.Pro2412=)
c.7138C= (p.Pro2380=)
c.7108C= (p.Pro2370=)
c.7033C= (p.Pro2345=)
c.6931C= (p.Pro2311=)
c.6562C= (p.Pro2188=)
5g.112843005C>GCA16037463APCc.7465C>G (p.Pro2489Ala)
c.*7417C>G (n.*7417C>G)
c.7357C>G (p.Pro2453Ala)
c.7411C>G (p.Pro2471Ala)
c.231-13644C>G
c.7441C>G (p.Pro2481Ala)
c.7336C>G (p.Pro2446Ala)
c.7327C>G (p.Pro2443Ala)
c.7288C>G (p.Pro2430Ala)
c.7234C>G (p.Pro2412Ala)
c.7138C>G (p.Pro2380Ala)
c.7108C>G (p.Pro2370Ala)
c.7033C>G (p.Pro2345Ala)
c.6931C>G (p.Pro2311Ala)
c.6562C>G (p.Pro2188Ala)
 ClinVar dbSNP gnomAD v4
5g.112843005C>TCA16037464APCc.7465C>T (p.Pro2489Ser)
c.*7417C>T (n.*7417C>T)
c.7357C>T (p.Pro2453Ser)
c.7411C>T (p.Pro2471Ser)
c.231-13644C>T
c.7441C>T (p.Pro2481Ser)
c.7336C>T (p.Pro2446Ser)
c.7327C>T (p.Pro2443Ser)
c.7288C>T (p.Pro2430Ser)
c.7234C>T (p.Pro2412Ser)
c.7138C>T (p.Pro2380Ser)
c.7108C>T (p.Pro2370Ser)
c.7033C>T (p.Pro2345Ser)
c.6931C>T (p.Pro2311Ser)
c.6562C>T (p.Pro2188Ser)
 ClinVar dbSNP
5g.112843006C>ACA16037465APCc.7466C>A (p.Pro2489Gln)
c.*7418C>A (n.*7418C>A)
c.7358C>A (p.Pro2453Gln)
c.7412C>A (p.Pro2471Gln)
c.231-13643C>A
c.7442C>A (p.Pro2481Gln)
c.7337C>A (p.Pro2446Gln)
c.7328C>A (p.Pro2443Gln)
c.7289C>A (p.Pro2430Gln)
c.7235C>A (p.Pro2412Gln)
c.7139C>A (p.Pro2380Gln)
c.7109C>A (p.Pro2370Gln)
c.7034C>A (p.Pro2345Gln)
c.6932C>A (p.Pro2311Gln)
c.6563C>A (p.Pro2188Gln)
 ClinVar dbSNP
5g.112843006C=CA1573470436APCc.7466C= (p.Pro2489=)
c.*7418C= (n.*7418C=)
c.7358C= (p.Pro2453=)
c.7412C= (p.Pro2471=)
c.231-13643C=
c.7442C= (p.Pro2481=)
c.7337C= (p.Pro2446=)
c.7328C= (p.Pro2443=)
c.7289C= (p.Pro2430=)
c.7235C= (p.Pro2412=)
c.7139C= (p.Pro2380=)
c.7109C= (p.Pro2370=)
c.7034C= (p.Pro2345=)
c.6932C= (p.Pro2311=)
c.6563C= (p.Pro2188=)
5g.112843006C>GCA16037466APCc.7466C>G (p.Pro2489Arg)
c.*7418C>G (n.*7418C>G)
c.7358C>G (p.Pro2453Arg)
c.7412C>G (p.Pro2471Arg)
c.231-13643C>G
c.7442C>G (p.Pro2481Arg)
c.7337C>G (p.Pro2446Arg)
c.7328C>G (p.Pro2443Arg)
c.7289C>G (p.Pro2430Arg)
c.7235C>G (p.Pro2412Arg)
c.7139C>G (p.Pro2380Arg)
c.7109C>G (p.Pro2370Arg)
c.7034C>G (p.Pro2345Arg)
c.6932C>G (p.Pro2311Arg)
c.6563C>G (p.Pro2188Arg)
 dbSNP
5g.112843006C>TCA10578443APCc.7466C>T (p.Pro2489Leu)
c.*7418C>T (n.*7418C>T)
c.7358C>T (p.Pro2453Leu)
c.7412C>T (p.Pro2471Leu)
c.231-13643C>T
c.7442C>T (p.Pro2481Leu)
c.7337C>T (p.Pro2446Leu)
c.7328C>T (p.Pro2443Leu)
c.7289C>T (p.Pro2430Leu)
c.7235C>T (p.Pro2412Leu)
c.7139C>T (p.Pro2380Leu)
c.7109C>T (p.Pro2370Leu)
c.7034C>T (p.Pro2345Leu)
c.6932C>T (p.Pro2311Leu)
c.6563C>T (p.Pro2188Leu)
 ClinVar dbSNP
5g.112843007A>CCA446210587APCc.7467A>C (p.Pro2489=)
c.*7419A>C (n.*7419A>C)
c.7359A>C (p.Pro2453=)
c.7413A>C (p.Pro2471=)
c.231-13642A>C
c.7443A>C (p.Pro2481=)
c.7338A>C (p.Pro2446=)
c.7329A>C (p.Pro2443=)
c.7290A>C (p.Pro2430=)
c.7236A>C (p.Pro2412=)
c.7140A>C (p.Pro2380=)
c.7110A>C (p.Pro2370=)
c.7035A>C (p.Pro2345=)
c.6933A>C (p.Pro2311=)
c.6564A>C (p.Pro2188=)
 dbSNP
5g.112843007A>GCA446210588APCc.7467A>G (p.Pro2489=)
c.*7419A>G (n.*7419A>G)
c.7359A>G (p.Pro2453=)
c.7413A>G (p.Pro2471=)
c.231-13642A>G
c.7443A>G (p.Pro2481=)
c.7338A>G (p.Pro2446=)
c.7329A>G (p.Pro2443=)
c.7290A>G (p.Pro2430=)
c.7236A>G (p.Pro2412=)
c.7140A>G (p.Pro2380=)
c.7110A>G (p.Pro2370=)
c.7035A>G (p.Pro2345=)
c.6933A>G (p.Pro2311=)
c.6564A>G (p.Pro2188=)
5g.112843007A>TCA446210590APCc.7467A>T (p.Pro2489=)
c.*7419A>T (n.*7419A>T)
c.7359A>T (p.Pro2453=)
c.7413A>T (p.Pro2471=)
c.231-13642A>T
c.7443A>T (p.Pro2481=)
c.7338A>T (p.Pro2446=)
c.7329A>T (p.Pro2443=)
c.7290A>T (p.Pro2430=)
c.7236A>T (p.Pro2412=)
c.7140A>T (p.Pro2380=)
c.7110A>T (p.Pro2370=)
c.7035A>T (p.Pro2345=)
c.6933A>T (p.Pro2311=)
c.6564A>T (p.Pro2188=)
 dbSNP
5g.112843008G>ACA16037467APCc.7468G>A (p.Ala2490Thr)
c.*7420G>A (n.*7420G>A)
c.7360G>A (p.Ala2454Thr)
c.7414G>A (p.Ala2472Thr)
c.231-13641G>A
c.7444G>A (p.Ala2482Thr)
c.7339G>A (p.Ala2447Thr)
c.7330G>A (p.Ala2444Thr)
c.7291G>A (p.Ala2431Thr)
c.7237G>A (p.Ala2413Thr)
c.7141G>A (p.Ala2381Thr)
c.7111G>A (p.Ala2371Thr)
c.7036G>A (p.Ala2346Thr)
c.6934G>A (p.Ala2312Thr)
c.6565G>A (p.Ala2189Thr)
 ClinVar dbSNP gnomAD v4
5g.112843008G>CCA16037468APCc.7468G>C (p.Ala2490Pro)
c.*7420G>C (n.*7420G>C)
c.7360G>C (p.Ala2454Pro)
c.7414G>C (p.Ala2472Pro)
c.231-13641G>C
c.7444G>C (p.Ala2482Pro)
c.7339G>C (p.Ala2447Pro)
c.7330G>C (p.Ala2444Pro)
c.7291G>C (p.Ala2431Pro)
c.7237G>C (p.Ala2413Pro)
c.7141G>C (p.Ala2381Pro)
c.7111G>C (p.Ala2371Pro)
c.7036G>C (p.Ala2346Pro)
c.6934G>C (p.Ala2312Pro)
c.6565G>C (p.Ala2189Pro)
 dbSNP gnomAD v4
5g.112843008G=CA1573470449APCc.7468G= (p.Ala2490=)
c.*7420G= (n.*7420G=)
c.7360G= (p.Ala2454=)
c.7414G= (p.Ala2472=)
c.231-13641G=
c.7444G= (p.Ala2482=)
c.7339G= (p.Ala2447=)
c.7330G= (p.Ala2444=)
c.7291G= (p.Ala2431=)
c.7237G= (p.Ala2413=)
c.7141G= (p.Ala2381=)
c.7111G= (p.Ala2371=)
c.7036G= (p.Ala2346=)
c.6934G= (p.Ala2312=)
c.6565G= (p.Ala2189=)
5g.112843008G>TCA16037469APCc.7468G>T (p.Ala2490Ser)
c.*7420G>T (n.*7420G>T)
c.7360G>T (p.Ala2454Ser)
c.7414G>T (p.Ala2472Ser)
c.231-13641G>T
c.7444G>T (p.Ala2482Ser)
c.7339G>T (p.Ala2447Ser)
c.7330G>T (p.Ala2444Ser)
c.7291G>T (p.Ala2431Ser)
c.7237G>T (p.Ala2413Ser)
c.7141G>T (p.Ala2381Ser)
c.7111G>T (p.Ala2371Ser)
c.7036G>T (p.Ala2346Ser)
c.6934G>T (p.Ala2312Ser)
c.6565G>T (p.Ala2189Ser)
 ClinVar dbSNP
5g.112843009C>ACA16037470APCc.7469C>A (p.Ala2490Asp)
c.*7421C>A (n.*7421C>A)
c.7361C>A (p.Ala2454Asp)
c.7415C>A (p.Ala2472Asp)
c.231-13640C>A
c.7445C>A (p.Ala2482Asp)
c.7340C>A (p.Ala2447Asp)
c.7331C>A (p.Ala2444Asp)
c.7292C>A (p.Ala2431Asp)
c.7238C>A (p.Ala2413Asp)
c.7142C>A (p.Ala2381Asp)
c.7112C>A (p.Ala2371Asp)
c.7037C>A (p.Ala2346Asp)
c.6935C>A (p.Ala2312Asp)
c.6566C>A (p.Ala2189Asp)
 dbSNP
5g.112843009C=CA1573470459APCc.7469C= (p.Ala2490=)
c.*7421C= (n.*7421C=)
c.7361C= (p.Ala2454=)
c.7415C= (p.Ala2472=)
c.231-13640C=
c.7445C= (p.Ala2482=)
c.7340C= (p.Ala2447=)
c.7331C= (p.Ala2444=)
c.7292C= (p.Ala2431=)
c.7238C= (p.Ala2413=)
c.7142C= (p.Ala2381=)
c.7112C= (p.Ala2371=)
c.7037C= (p.Ala2346=)
c.6935C= (p.Ala2312=)
c.6566C= (p.Ala2189=)
5g.112843009C>GCA16037471APCc.7469C>G (p.Ala2490Gly)
c.*7421C>G (n.*7421C>G)
c.7361C>G (p.Ala2454Gly)
c.7415C>G (p.Ala2472Gly)
c.231-13640C>G
c.7445C>G (p.Ala2482Gly)
c.7340C>G (p.Ala2447Gly)
c.7331C>G (p.Ala2444Gly)
c.7292C>G (p.Ala2431Gly)
c.7238C>G (p.Ala2413Gly)
c.7142C>G (p.Ala2381Gly)
c.7112C>G (p.Ala2371Gly)
c.7037C>G (p.Ala2346Gly)
c.6935C>G (p.Ala2312Gly)
c.6566C>G (p.Ala2189Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843009C>TCA013674APCc.7469C>T (p.Ala2490Val)
c.*7421C>T (n.*7421C>T)
c.7361C>T (p.Ala2454Val)
c.7415C>T (p.Ala2472Val)
c.231-13640C>T
c.7445C>T (p.Ala2482Val)
c.7340C>T (p.Ala2447Val)
c.7331C>T (p.Ala2444Val)
c.7292C>T (p.Ala2431Val)
c.7238C>T (p.Ala2413Val)
c.7142C>T (p.Ala2381Val)
c.7112C>T (p.Ala2371Val)
c.7037C>T (p.Ala2346Val)
c.6935C>T (p.Ala2312Val)
c.6566C>T (p.Ala2189Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843010T>ACA446210599APCc.7470T>A (p.Ala2490=)
c.*7422T>A (n.*7422T>A)
c.7362T>A (p.Ala2454=)
c.7416T>A (p.Ala2472=)
c.231-13639T>A
c.7446T>A (p.Ala2482=)
c.7341T>A (p.Ala2447=)
c.7332T>A (p.Ala2444=)
c.7293T>A (p.Ala2431=)
c.7239T>A (p.Ala2413=)
c.7143T>A (p.Ala2381=)
c.7113T>A (p.Ala2371=)
c.7038T>A (p.Ala2346=)
c.6936T>A (p.Ala2312=)
c.6567T>A (p.Ala2189=)
 dbSNP
5g.112843010T>CCA446210601APCc.7470T>C (p.Ala2490=)
c.*7422T>C (n.*7422T>C)
c.7362T>C (p.Ala2454=)
c.7416T>C (p.Ala2472=)
c.231-13639T>C
c.7446T>C (p.Ala2482=)
c.7341T>C (p.Ala2447=)
c.7332T>C (p.Ala2444=)
c.7293T>C (p.Ala2431=)
c.7239T>C (p.Ala2413=)
c.7143T>C (p.Ala2381=)
c.7113T>C (p.Ala2371=)
c.7038T>C (p.Ala2346=)
c.6936T>C (p.Ala2312=)
c.6567T>C (p.Ala2189=)
 dbSNP
5g.112843010T>GCA446210603APCc.7470T>G (p.Ala2490=)
c.*7422T>G (n.*7422T>G)
c.7362T>G (p.Ala2454=)
c.7416T>G (p.Ala2472=)
c.231-13639T>G
c.7446T>G (p.Ala2482=)
c.7341T>G (p.Ala2447=)
c.7332T>G (p.Ala2444=)
c.7293T>G (p.Ala2431=)
c.7239T>G (p.Ala2413=)
c.7143T>G (p.Ala2381=)
c.7113T>G (p.Ala2371=)
c.7038T>G (p.Ala2346=)
c.6936T>G (p.Ala2312=)
c.6567T>G (p.Ala2189=)
 ClinVar dbSNP
5g.112843011T>ACA16037472APCc.7471T>A (p.Ser2491Thr)
c.*7423T>A (n.*7423T>A)
c.7363T>A (p.Ser2455Thr)
c.7417T>A (p.Ser2473Thr)
c.231-13638T>A
c.7447T>A (p.Ser2483Thr)
c.7342T>A (p.Ser2448Thr)
c.7333T>A (p.Ser2445Thr)
c.7294T>A (p.Ser2432Thr)
c.7240T>A (p.Ser2414Thr)
c.7144T>A (p.Ser2382Thr)
c.7114T>A (p.Ser2372Thr)
c.7039T>A (p.Ser2347Thr)
c.6937T>A (p.Ser2313Thr)
c.6568T>A (p.Ser2190Thr)
 dbSNP
5g.112843011T>CCA16037473APCc.7471T>C (p.Ser2491Pro)
c.*7423T>C (n.*7423T>C)
c.7363T>C (p.Ser2455Pro)
c.7417T>C (p.Ser2473Pro)
c.231-13638T>C
c.7447T>C (p.Ser2483Pro)
c.7342T>C (p.Ser2448Pro)
c.7333T>C (p.Ser2445Pro)
c.7294T>C (p.Ser2432Pro)
c.7240T>C (p.Ser2414Pro)
c.7144T>C (p.Ser2382Pro)
c.7114T>C (p.Ser2372Pro)
c.7039T>C (p.Ser2347Pro)
c.6937T>C (p.Ser2313Pro)
c.6568T>C (p.Ser2190Pro)
 dbSNP
5g.112843011T>GCA16037474APCc.7471T>G (p.Ser2491Ala)
c.*7423T>G (n.*7423T>G)
c.7363T>G (p.Ser2455Ala)
c.7417T>G (p.Ser2473Ala)
c.231-13638T>G
c.7447T>G (p.Ser2483Ala)
c.7342T>G (p.Ser2448Ala)
c.7333T>G (p.Ser2445Ala)
c.7294T>G (p.Ser2432Ala)
c.7240T>G (p.Ser2414Ala)
c.7144T>G (p.Ser2382Ala)
c.7114T>G (p.Ser2372Ala)
c.7039T>G (p.Ser2347Ala)
c.6937T>G (p.Ser2313Ala)
c.6568T>G (p.Ser2190Ala)
5g.112843012C>ACA16037475APCc.7472C>A (p.Ser2491Tyr)
c.*7424C>A (n.*7424C>A)
c.7364C>A (p.Ser2455Tyr)
c.7418C>A (p.Ser2473Tyr)
c.231-13637C>A
c.7448C>A (p.Ser2483Tyr)
c.7343C>A (p.Ser2448Tyr)
c.7334C>A (p.Ser2445Tyr)
c.7295C>A (p.Ser2432Tyr)
c.7241C>A (p.Ser2414Tyr)
c.7145C>A (p.Ser2382Tyr)
c.7115C>A (p.Ser2372Tyr)
c.7040C>A (p.Ser2347Tyr)
c.6938C>A (p.Ser2313Tyr)
c.6569C>A (p.Ser2190Tyr)
5g.112843012C=CA1573470538APCc.7472C= (p.Ser2491=)
c.*7424C= (n.*7424C=)
c.7364C= (p.Ser2455=)
c.7418C= (p.Ser2473=)
c.231-13637C=
c.7448C= (p.Ser2483=)
c.7343C= (p.Ser2448=)
c.7334C= (p.Ser2445=)
c.7295C= (p.Ser2432=)
c.7241C= (p.Ser2414=)
c.7145C= (p.Ser2382=)
c.7115C= (p.Ser2372=)
c.7040C= (p.Ser2347=)
c.6938C= (p.Ser2313=)
c.6569C= (p.Ser2190=)
5g.112843012C>GCA16037476APCc.7472C>G (p.Ser2491Cys)
c.*7424C>G (n.*7424C>G)
c.7364C>G (p.Ser2455Cys)
c.7418C>G (p.Ser2473Cys)
c.231-13637C>G
c.7448C>G (p.Ser2483Cys)
c.7343C>G (p.Ser2448Cys)
c.7334C>G (p.Ser2445Cys)
c.7295C>G (p.Ser2432Cys)
c.7241C>G (p.Ser2414Cys)
c.7145C>G (p.Ser2382Cys)
c.7115C>G (p.Ser2372Cys)
c.7040C>G (p.Ser2347Cys)
c.6938C>G (p.Ser2313Cys)
c.6569C>G (p.Ser2190Cys)
 ClinVar dbSNP gnomAD v4
5g.112843012C>TCA16037477APCc.7472C>T (p.Ser2491Phe)
c.*7424C>T (n.*7424C>T)
c.7364C>T (p.Ser2455Phe)
c.7418C>T (p.Ser2473Phe)
c.231-13637C>T
c.7448C>T (p.Ser2483Phe)
c.7343C>T (p.Ser2448Phe)
c.7334C>T (p.Ser2445Phe)
c.7295C>T (p.Ser2432Phe)
c.7241C>T (p.Ser2414Phe)
c.7145C>T (p.Ser2382Phe)
c.7115C>T (p.Ser2372Phe)
c.7040C>T (p.Ser2347Phe)
c.6938C>T (p.Ser2313Phe)
c.6569C>T (p.Ser2190Phe)
 ClinVar dbSNP
5g.112843013T>ACA125167819APCc.7473T>A (p.Ser2491=)
c.*7425T>A (n.*7425T>A)
c.7365T>A (p.Ser2455=)
c.7419T>A (p.Ser2473=)
c.231-13636T>A
c.7449T>A (p.Ser2483=)
c.7344T>A (p.Ser2448=)
c.7335T>A (p.Ser2445=)
c.7296T>A (p.Ser2432=)
c.7242T>A (p.Ser2414=)
c.7146T>A (p.Ser2382=)
c.7116T>A (p.Ser2372=)
c.7041T>A (p.Ser2347=)
c.6939T>A (p.Ser2313=)
c.6570T>A (p.Ser2190=)
 ClinVar dbSNP gnomAD v4
5g.112843013T>CCA446210608APCc.7473T>C (p.Ser2491=)
c.*7425T>C (n.*7425T>C)
c.7365T>C (p.Ser2455=)
c.7419T>C (p.Ser2473=)
c.231-13636T>C
c.7449T>C (p.Ser2483=)
c.7344T>C (p.Ser2448=)
c.7335T>C (p.Ser2445=)
c.7296T>C (p.Ser2432=)
c.7242T>C (p.Ser2414=)
c.7146T>C (p.Ser2382=)
c.7116T>C (p.Ser2372=)
c.7041T>C (p.Ser2347=)
c.6939T>C (p.Ser2313=)
c.6570T>C (p.Ser2190=)
 gnomAD v4
5g.112843013T>GCA446210607APCc.7473T>G (p.Ser2491=)
c.*7425T>G (n.*7425T>G)
c.7365T>G (p.Ser2455=)
c.7419T>G (p.Ser2473=)
c.231-13636T>G
c.7449T>G (p.Ser2483=)
c.7344T>G (p.Ser2448=)
c.7335T>G (p.Ser2445=)
c.7296T>G (p.Ser2432=)
c.7242T>G (p.Ser2414=)
c.7146T>G (p.Ser2382=)
c.7116T>G (p.Ser2372=)
c.7041T>G (p.Ser2347=)
c.6939T>G (p.Ser2313=)
c.6570T>G (p.Ser2190=)
5g.112843013T=CA1573470549APCc.7473T= (p.Ser2491=)
c.*7425T= (n.*7425T=)
c.7365T= (p.Ser2455=)
c.7419T= (p.Ser2473=)
c.231-13636T=
c.7449T= (p.Ser2483=)
c.7344T= (p.Ser2448=)
c.7335T= (p.Ser2445=)
c.7296T= (p.Ser2432=)
c.7242T= (p.Ser2414=)
c.7146T= (p.Ser2382=)
c.7116T= (p.Ser2372=)
c.7041T= (p.Ser2347=)
c.6939T= (p.Ser2313=)
c.6570T= (p.Ser2190=)
5g.112843014C>ACA16037478APCc.7474C>A (p.Pro2492Thr)
c.*7426C>A (n.*7426C>A)
c.7366C>A (p.Pro2456Thr)
c.7420C>A (p.Pro2474Thr)
c.231-13635C>A
c.7450C>A (p.Pro2484Thr)
c.7345C>A (p.Pro2449Thr)
c.7336C>A (p.Pro2446Thr)
c.7297C>A (p.Pro2433Thr)
c.7243C>A (p.Pro2415Thr)
c.7147C>A (p.Pro2383Thr)
c.7117C>A (p.Pro2373Thr)
c.7042C>A (p.Pro2348Thr)
c.6940C>A (p.Pro2314Thr)
c.6571C>A (p.Pro2191Thr)
 dbSNP
5g.112843014C>GCA16037479APCc.7474C>G (p.Pro2492Ala)
c.*7426C>G (n.*7426C>G)
c.7366C>G (p.Pro2456Ala)
c.7420C>G (p.Pro2474Ala)
c.231-13635C>G
c.7450C>G (p.Pro2484Ala)
c.7345C>G (p.Pro2449Ala)
c.7336C>G (p.Pro2446Ala)
c.7297C>G (p.Pro2433Ala)
c.7243C>G (p.Pro2415Ala)
c.7147C>G (p.Pro2383Ala)
c.7117C>G (p.Pro2373Ala)
c.7042C>G (p.Pro2348Ala)
c.6940C>G (p.Pro2314Ala)
c.6571C>G (p.Pro2191Ala)
 dbSNP
5g.112843014C>TCA16037480APCc.7474C>T (p.Pro2492Ser)
c.*7426C>T (n.*7426C>T)
c.7366C>T (p.Pro2456Ser)
c.7420C>T (p.Pro2474Ser)
c.231-13635C>T
c.7450C>T (p.Pro2484Ser)
c.7345C>T (p.Pro2449Ser)
c.7336C>T (p.Pro2446Ser)
c.7297C>T (p.Pro2433Ser)
c.7243C>T (p.Pro2415Ser)
c.7147C>T (p.Pro2383Ser)
c.7117C>T (p.Pro2373Ser)
c.7042C>T (p.Pro2348Ser)
c.6940C>T (p.Pro2314Ser)
c.6571C>T (p.Pro2191Ser)
 dbSNP
5g.112843015C>ACA16037481APCc.7475C>A (p.Pro2492His)
c.*7427C>A (n.*7427C>A)
c.7367C>A (p.Pro2456His)
c.7421C>A (p.Pro2474His)
c.231-13634C>A
c.7451C>A (p.Pro2484His)
c.7346C>A (p.Pro2449His)
c.7337C>A (p.Pro2446His)
c.7298C>A (p.Pro2433His)
c.7244C>A (p.Pro2415His)
c.7148C>A (p.Pro2383His)
c.7118C>A (p.Pro2373His)
c.7043C>A (p.Pro2348His)
c.6941C>A (p.Pro2314His)
c.6572C>A (p.Pro2191His)
 dbSNP
5g.112843015C>GCA16037482APCc.7475C>G (p.Pro2492Arg)
c.*7427C>G (n.*7427C>G)
c.7367C>G (p.Pro2456Arg)
c.7421C>G (p.Pro2474Arg)
c.231-13634C>G
c.7451C>G (p.Pro2484Arg)
c.7346C>G (p.Pro2449Arg)
c.7337C>G (p.Pro2446Arg)
c.7298C>G (p.Pro2433Arg)
c.7244C>G (p.Pro2415Arg)
c.7148C>G (p.Pro2383Arg)
c.7118C>G (p.Pro2373Arg)
c.7043C>G (p.Pro2348Arg)
c.6941C>G (p.Pro2314Arg)
c.6572C>G (p.Pro2191Arg)
 dbSNP
5g.112843015C>TCA16037483APCc.7475C>T (p.Pro2492Leu)
c.*7427C>T (n.*7427C>T)
c.7367C>T (p.Pro2456Leu)
c.7421C>T (p.Pro2474Leu)
c.231-13634C>T
c.7451C>T (p.Pro2484Leu)
c.7346C>T (p.Pro2449Leu)
c.7337C>T (p.Pro2446Leu)
c.7298C>T (p.Pro2433Leu)
c.7244C>T (p.Pro2415Leu)
c.7148C>T (p.Pro2383Leu)
c.7118C>T (p.Pro2373Leu)
c.7043C>T (p.Pro2348Leu)
c.6941C>T (p.Pro2314Leu)
c.6572C>T (p.Pro2191Leu)
 ClinVar dbSNP
5g.112843016C>ACA446210617APCc.7476C>A (p.Pro2492=)
c.*7428C>A (n.*7428C>A)
c.7368C>A (p.Pro2456=)
c.7422C>A (p.Pro2474=)
c.231-13633C>A
c.7452C>A (p.Pro2484=)
c.7347C>A (p.Pro2449=)
c.7338C>A (p.Pro2446=)
c.7299C>A (p.Pro2433=)
c.7245C>A (p.Pro2415=)
c.7149C>A (p.Pro2383=)
c.7119C>A (p.Pro2373=)
c.7044C>A (p.Pro2348=)
c.6942C>A (p.Pro2314=)
c.6573C>A (p.Pro2191=)
 dbSNP
5g.112843016C>GCA446210616APCc.7476C>G (p.Pro2492=)
c.*7428C>G (n.*7428C>G)
c.7368C>G (p.Pro2456=)
c.7422C>G (p.Pro2474=)
c.231-13633C>G
c.7452C>G (p.Pro2484=)
c.7347C>G (p.Pro2449=)
c.7338C>G (p.Pro2446=)
c.7299C>G (p.Pro2433=)
c.7245C>G (p.Pro2415=)
c.7149C>G (p.Pro2383=)
c.7119C>G (p.Pro2373=)
c.7044C>G (p.Pro2348=)
c.6942C>G (p.Pro2314=)
c.6573C>G (p.Pro2191=)
 dbSNP
5g.112843016C>TCA446210615APCc.7476C>T (p.Pro2492=)
c.*7428C>T (n.*7428C>T)
c.7368C>T (p.Pro2456=)
c.7422C>T (p.Pro2474=)
c.231-13633C>T
c.7452C>T (p.Pro2484=)
c.7347C>T (p.Pro2449=)
c.7338C>T (p.Pro2446=)
c.7299C>T (p.Pro2433=)
c.7245C>T (p.Pro2415=)
c.7149C>T (p.Pro2383=)
c.7119C>T (p.Pro2373=)
c.7044C>T (p.Pro2348=)
c.6942C>T (p.Pro2314=)
c.6573C>T (p.Pro2191=)
 gnomAD v4
5g.112843017A=CA1573470564APCc.7477A= (p.Thr2493=)
c.*7429A= (n.*7429A=)
c.7369A= (p.Thr2457=)
c.7423A= (p.Thr2475=)
c.231-13632A=
c.7453A= (p.Thr2485=)
c.7348A= (p.Thr2450=)
c.7339A= (p.Thr2447=)
c.7300A= (p.Thr2434=)
c.7246A= (p.Thr2416=)
c.7150A= (p.Thr2384=)
c.7120A= (p.Thr2374=)
c.7045A= (p.Thr2349=)
c.6943A= (p.Thr2315=)
c.6574A= (p.Thr2192=)
5g.112843017A>CCA16037484APCc.7477A>C (p.Thr2493Pro)
c.*7429A>C (n.*7429A>C)
c.7369A>C (p.Thr2457Pro)
c.7423A>C (p.Thr2475Pro)
c.231-13632A>C
c.7453A>C (p.Thr2485Pro)
c.7348A>C (p.Thr2450Pro)
c.7339A>C (p.Thr2447Pro)
c.7300A>C (p.Thr2434Pro)
c.7246A>C (p.Thr2416Pro)
c.7150A>C (p.Thr2384Pro)
c.7120A>C (p.Thr2374Pro)
c.7045A>C (p.Thr2349Pro)
c.6943A>C (p.Thr2315Pro)
c.6574A>C (p.Thr2192Pro)
 dbSNP
5g.112843017A>GCA16037485APCc.7477A>G (p.Thr2493Ala)
c.*7429A>G (n.*7429A>G)
c.7369A>G (p.Thr2457Ala)
c.7423A>G (p.Thr2475Ala)
c.231-13632A>G
c.7453A>G (p.Thr2485Ala)
c.7348A>G (p.Thr2450Ala)
c.7339A>G (p.Thr2447Ala)
c.7300A>G (p.Thr2434Ala)
c.7246A>G (p.Thr2416Ala)
c.7150A>G (p.Thr2384Ala)
c.7120A>G (p.Thr2374Ala)
c.7045A>G (p.Thr2349Ala)
c.6943A>G (p.Thr2315Ala)
c.6574A>G (p.Thr2192Ala)
 dbSNP gnomAD v2 gnomAD v4
5g.112843017A>TCA16037486APCc.7477A>T (p.Thr2493Ser)
c.*7429A>T (n.*7429A>T)
c.7369A>T (p.Thr2457Ser)
c.7423A>T (p.Thr2475Ser)
c.231-13632A>T
c.7453A>T (p.Thr2485Ser)
c.7348A>T (p.Thr2450Ser)
c.7339A>T (p.Thr2447Ser)
c.7300A>T (p.Thr2434Ser)
c.7246A>T (p.Thr2416Ser)
c.7150A>T (p.Thr2384Ser)
c.7120A>T (p.Thr2374Ser)
c.7045A>T (p.Thr2349Ser)
c.6943A>T (p.Thr2315Ser)
c.6574A>T (p.Thr2192Ser)
 dbSNP gnomAD v4
5g.112843018C>ACA16037487APCc.7478C>A (p.Thr2493Asn)
c.*7430C>A (n.*7430C>A)
c.7370C>A (p.Thr2457Asn)
c.7424C>A (p.Thr2475Asn)
c.231-13631C>A
c.7454C>A (p.Thr2485Asn)
c.7349C>A (p.Thr2450Asn)
c.7340C>A (p.Thr2447Asn)
c.7301C>A (p.Thr2434Asn)
c.7247C>A (p.Thr2416Asn)
c.7151C>A (p.Thr2384Asn)
c.7121C>A (p.Thr2374Asn)
c.7046C>A (p.Thr2349Asn)
c.6944C>A (p.Thr2315Asn)
c.6575C>A (p.Thr2192Asn)
 dbSNP
5g.112843018C=CA1573470588APCc.7478C= (p.Thr2493=)
c.*7430C= (n.*7430C=)
c.7370C= (p.Thr2457=)
c.7424C= (p.Thr2475=)
c.231-13631C=
c.7454C= (p.Thr2485=)
c.7349C= (p.Thr2450=)
c.7340C= (p.Thr2447=)
c.7301C= (p.Thr2434=)
c.7247C= (p.Thr2416=)
c.7151C= (p.Thr2384=)
c.7121C= (p.Thr2374=)
c.7046C= (p.Thr2349=)
c.6944C= (p.Thr2315=)
c.6575C= (p.Thr2192=)
5g.112843018C>GCA16037488APCc.7478C>G (p.Thr2493Ser)
c.*7430C>G (n.*7430C>G)
c.7370C>G (p.Thr2457Ser)
c.7424C>G (p.Thr2475Ser)
c.231-13631C>G
c.7454C>G (p.Thr2485Ser)
c.7349C>G (p.Thr2450Ser)
c.7340C>G (p.Thr2447Ser)
c.7301C>G (p.Thr2434Ser)
c.7247C>G (p.Thr2416Ser)
c.7151C>G (p.Thr2384Ser)
c.7121C>G (p.Thr2374Ser)
c.7046C>G (p.Thr2349Ser)
c.6944C>G (p.Thr2315Ser)
c.6575C>G (p.Thr2192Ser)
 ClinVar dbSNP
5g.112843018C>TCA16037489APCc.7478C>T (p.Thr2493Ile)
c.*7430C>T (n.*7430C>T)
c.7370C>T (p.Thr2457Ile)
c.7424C>T (p.Thr2475Ile)
c.231-13631C>T
c.7454C>T (p.Thr2485Ile)
c.7349C>T (p.Thr2450Ile)
c.7340C>T (p.Thr2447Ile)
c.7301C>T (p.Thr2434Ile)
c.7247C>T (p.Thr2416Ile)
c.7151C>T (p.Thr2384Ile)
c.7121C>T (p.Thr2374Ile)
c.7046C>T (p.Thr2349Ile)
c.6944C>T (p.Thr2315Ile)
c.6575C>T (p.Thr2192Ile)
 ClinVar dbSNP
5g.112843019T>ACA446210625APCc.7479T>A (p.Thr2493=)
c.*7431T>A (n.*7431T>A)
c.7371T>A (p.Thr2457=)
c.7425T>A (p.Thr2475=)
c.231-13630T>A
c.7455T>A (p.Thr2485=)
c.7350T>A (p.Thr2450=)
c.7341T>A (p.Thr2447=)
c.7302T>A (p.Thr2434=)
c.7248T>A (p.Thr2416=)
c.7152T>A (p.Thr2384=)
c.7122T>A (p.Thr2374=)
c.7047T>A (p.Thr2349=)
c.6945T>A (p.Thr2315=)
c.6576T>A (p.Thr2192=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843019T>CCA446210633APCc.7479T>C (p.Thr2493=)
c.*7431T>C (n.*7431T>C)
c.7371T>C (p.Thr2457=)
c.7425T>C (p.Thr2475=)
c.231-13630T>C
c.7455T>C (p.Thr2485=)
c.7350T>C (p.Thr2450=)
c.7341T>C (p.Thr2447=)
c.7302T>C (p.Thr2434=)
c.7248T>C (p.Thr2416=)
c.7152T>C (p.Thr2384=)
c.7122T>C (p.Thr2374=)
c.7047T>C (p.Thr2349=)
c.6945T>C (p.Thr2315=)
c.6576T>C (p.Thr2192=)
 ClinVar dbSNP gnomAD v4
5g.112843019T>GCA446210627APCc.7479T>G (p.Thr2493=)
c.*7431T>G (n.*7431T>G)
c.7371T>G (p.Thr2457=)
c.7425T>G (p.Thr2475=)
c.231-13630T>G
c.7455T>G (p.Thr2485=)
c.7350T>G (p.Thr2450=)
c.7341T>G (p.Thr2447=)
c.7302T>G (p.Thr2434=)
c.7248T>G (p.Thr2416=)
c.7152T>G (p.Thr2384=)
c.7122T>G (p.Thr2374=)
c.7047T>G (p.Thr2349=)
c.6945T>G (p.Thr2315=)
c.6576T>G (p.Thr2192=)
5g.112843019T=CA1573470605APCc.7479T= (p.Thr2493=)
c.*7431T= (n.*7431T=)
c.7371T= (p.Thr2457=)
c.7425T= (p.Thr2475=)
c.231-13630T=
c.7455T= (p.Thr2485=)
c.7350T= (p.Thr2450=)
c.7341T= (p.Thr2447=)
c.7302T= (p.Thr2434=)
c.7248T= (p.Thr2416=)
c.7152T= (p.Thr2384=)
c.7122T= (p.Thr2374=)
c.7047T= (p.Thr2349=)
c.6945T= (p.Thr2315=)
c.6576T= (p.Thr2192=)
5g.112843020A=CA1573470625APCc.7480A= (p.Arg2494=)
c.*7432A= (n.*7432A=)
c.7372A= (p.Arg2458=)
c.7426A= (p.Arg2476=)
c.231-13629A=
c.7456A= (p.Arg2486=)
c.7351A= (p.Arg2451=)
c.7342A= (p.Arg2448=)
c.7303A= (p.Arg2435=)
c.7249A= (p.Arg2417=)
c.7153A= (p.Arg2385=)
c.7123A= (p.Arg2375=)
c.7048A= (p.Arg2350=)
c.6946A= (p.Arg2316=)
c.6577A= (p.Arg2193=)
5g.112843020A>CCA446210636APCc.7480A>C (p.Arg2494=)
c.*7432A>C (n.*7432A>C)
c.7372A>C (p.Arg2458=)
c.7426A>C (p.Arg2476=)
c.231-13629A>C
c.7456A>C (p.Arg2486=)
c.7351A>C (p.Arg2451=)
c.7342A>C (p.Arg2448=)
c.7303A>C (p.Arg2435=)
c.7249A>C (p.Arg2417=)
c.7153A>C (p.Arg2385=)
c.7123A>C (p.Arg2375=)
c.7048A>C (p.Arg2350=)
c.6946A>C (p.Arg2316=)
c.6577A>C (p.Arg2193=)
5g.112843020A>GCA16037490APCc.7480A>G (p.Arg2494Gly)
c.*7432A>G (n.*7432A>G)
c.7372A>G (p.Arg2458Gly)
c.7426A>G (p.Arg2476Gly)
c.231-13629A>G
c.7456A>G (p.Arg2486Gly)
c.7351A>G (p.Arg2451Gly)
c.7342A>G (p.Arg2448Gly)
c.7303A>G (p.Arg2435Gly)
c.7249A>G (p.Arg2417Gly)
c.7153A>G (p.Arg2385Gly)
c.7123A>G (p.Arg2375Gly)
c.7048A>G (p.Arg2350Gly)
c.6946A>G (p.Arg2316Gly)
c.6577A>G (p.Arg2193Gly)
 ClinVar dbSNP
5g.112843020A>TCA16037491APCc.7480A>T (p.Arg2494Trp)
c.*7432A>T (n.*7432A>T)
c.7372A>T (p.Arg2458Trp)
c.7426A>T (p.Arg2476Trp)
c.231-13629A>T
c.7456A>T (p.Arg2486Trp)
c.7351A>T (p.Arg2451Trp)
c.7342A>T (p.Arg2448Trp)
c.7303A>T (p.Arg2435Trp)
c.7249A>T (p.Arg2417Trp)
c.7153A>T (p.Arg2385Trp)
c.7123A>T (p.Arg2375Trp)
c.7048A>T (p.Arg2350Trp)
c.6946A>T (p.Arg2316Trp)
c.6577A>T (p.Arg2193Trp)
 dbSNP
5g.112843021G>ACA16037492APCc.7481G>A (p.Arg2494Lys)
c.*7433G>A (n.*7433G>A)
c.7373G>A (p.Arg2458Lys)
c.7427G>A (p.Arg2476Lys)
c.231-13628G>A
c.7457G>A (p.Arg2486Lys)
c.7352G>A (p.Arg2451Lys)
c.7343G>A (p.Arg2448Lys)
c.7304G>A (p.Arg2435Lys)
c.7250G>A (p.Arg2417Lys)
c.7154G>A (p.Arg2385Lys)
c.7124G>A (p.Arg2375Lys)
c.7049G>A (p.Arg2350Lys)
c.6947G>A (p.Arg2316Lys)
c.6578G>A (p.Arg2193Lys)
 ClinVar dbSNP
5g.112843021G>CCA16037493APCc.7481G>C (p.Arg2494Thr)
c.*7433G>C (n.*7433G>C)
c.7373G>C (p.Arg2458Thr)
c.7427G>C (p.Arg2476Thr)
c.231-13628G>C
c.7457G>C (p.Arg2486Thr)
c.7352G>C (p.Arg2451Thr)
c.7343G>C (p.Arg2448Thr)
c.7304G>C (p.Arg2435Thr)
c.7250G>C (p.Arg2417Thr)
c.7154G>C (p.Arg2385Thr)
c.7124G>C (p.Arg2375Thr)
c.7049G>C (p.Arg2350Thr)
c.6947G>C (p.Arg2316Thr)
c.6578G>C (p.Arg2193Thr)
 ClinVar dbSNP
5g.112843021G=CA1573470637APCc.7481G= (p.Arg2494=)
c.*7433G= (n.*7433G=)
c.7373G= (p.Arg2458=)
c.7427G= (p.Arg2476=)
c.231-13628G=
c.7457G= (p.Arg2486=)
c.7352G= (p.Arg2451=)
c.7343G= (p.Arg2448=)
c.7304G= (p.Arg2435=)
c.7250G= (p.Arg2417=)
c.7154G= (p.Arg2385=)
c.7124G= (p.Arg2375=)
c.7049G= (p.Arg2350=)
c.6947G= (p.Arg2316=)
c.6578G= (p.Arg2193=)
5g.112843021G>TCA16037494APCc.7481G>T (p.Arg2494Met)
c.*7433G>T (n.*7433G>T)
c.7373G>T (p.Arg2458Met)
c.7427G>T (p.Arg2476Met)
c.231-13628G>T
c.7457G>T (p.Arg2486Met)
c.7352G>T (p.Arg2451Met)
c.7343G>T (p.Arg2448Met)
c.7304G>T (p.Arg2435Met)
c.7250G>T (p.Arg2417Met)
c.7154G>T (p.Arg2385Met)
c.7124G>T (p.Arg2375Met)
c.7049G>T (p.Arg2350Met)
c.6947G>T (p.Arg2316Met)
c.6578G>T (p.Arg2193Met)
 dbSNP
5g.112843022delCA2582341625APCc.7482del (p.Arg2494SerfsTer9)
c.*7434del (n.*7434del)
c.7374del (p.Arg2458SerfsTer9)
c.7428del (p.Arg2476SerfsTer9)
c.231-13627del
c.7458del (p.Arg2486SerfsTer9)
c.7353del (p.Arg2451SerfsTer9)
c.7344del (p.Arg2448SerfsTer9)
c.7305del (p.Arg2435SerfsTer9)
c.7251del (p.Arg2417SerfsTer9)
c.7155del (p.Arg2385SerfsTer9)
c.7125del (p.Arg2375SerfsTer9)
c.7050del (p.Arg2350SerfsTer9)
c.6948del (p.Arg2316SerfsTer9)
c.6579del (p.Arg2193SerfsTer9)
 ClinVar
5g.112843022G>ACA446210638APCc.7482G>A (p.Arg2494=)
c.*7434G>A (n.*7434G>A)
c.7374G>A (p.Arg2458=)
c.7428G>A (p.Arg2476=)
c.231-13627G>A
c.7458G>A (p.Arg2486=)
c.7353G>A (p.Arg2451=)
c.7344G>A (p.Arg2448=)
c.7305G>A (p.Arg2435=)
c.7251G>A (p.Arg2417=)
c.7155G>A (p.Arg2385=)
c.7125G>A (p.Arg2375=)
c.7050G>A (p.Arg2350=)
c.6948G>A (p.Arg2316=)
c.6579G>A (p.Arg2193=)
 ClinVar dbSNP
5g.112843022G>CCA16037495APCc.7482G>C (p.Arg2494Ser)
c.*7434G>C (n.*7434G>C)
c.7374G>C (p.Arg2458Ser)
c.7428G>C (p.Arg2476Ser)
c.231-13627G>C
c.7458G>C (p.Arg2486Ser)
c.7353G>C (p.Arg2451Ser)
c.7344G>C (p.Arg2448Ser)
c.7305G>C (p.Arg2435Ser)
c.7251G>C (p.Arg2417Ser)
c.7155G>C (p.Arg2385Ser)
c.7125G>C (p.Arg2375Ser)
c.7050G>C (p.Arg2350Ser)
c.6948G>C (p.Arg2316Ser)
c.6579G>C (p.Arg2193Ser)
 dbSNP
5g.112843022G>TCA16037496APCc.7482G>T (p.Arg2494Ser)
c.*7434G>T (n.*7434G>T)
c.7374G>T (p.Arg2458Ser)
c.7428G>T (p.Arg2476Ser)
c.231-13627G>T
c.7458G>T (p.Arg2486Ser)
c.7353G>T (p.Arg2451Ser)
c.7344G>T (p.Arg2448Ser)
c.7305G>T (p.Arg2435Ser)
c.7251G>T (p.Arg2417Ser)
c.7155G>T (p.Arg2385Ser)
c.7125G>T (p.Arg2375Ser)
c.7050G>T (p.Arg2350Ser)
c.6948G>T (p.Arg2316Ser)
c.6579G>T (p.Arg2193Ser)
 dbSNP
5g.112843023T>ACA16037497APCc.7483T>A (p.Ser2495Thr)
c.*7435T>A (n.*7435T>A)
c.7375T>A (p.Ser2459Thr)
c.7429T>A (p.Ser2477Thr)
c.231-13626T>A
c.7459T>A (p.Ser2487Thr)
c.7354T>A (p.Ser2452Thr)
c.7345T>A (p.Ser2449Thr)
c.7306T>A (p.Ser2436Thr)
c.7252T>A (p.Ser2418Thr)
c.7156T>A (p.Ser2386Thr)
c.7126T>A (p.Ser2376Thr)
c.7051T>A (p.Ser2351Thr)
c.6949T>A (p.Ser2317Thr)
c.6580T>A (p.Ser2194Thr)
 ClinVar dbSNP
5g.112843023T>CCA16037498APCc.7483T>C (p.Ser2495Pro)
c.*7435T>C (n.*7435T>C)
c.7375T>C (p.Ser2459Pro)
c.7429T>C (p.Ser2477Pro)
c.231-13626T>C
c.7459T>C (p.Ser2487Pro)
c.7354T>C (p.Ser2452Pro)
c.7345T>C (p.Ser2449Pro)
c.7306T>C (p.Ser2436Pro)
c.7252T>C (p.Ser2418Pro)
c.7156T>C (p.Ser2386Pro)
c.7126T>C (p.Ser2376Pro)
c.7051T>C (p.Ser2351Pro)
c.6949T>C (p.Ser2317Pro)
c.6580T>C (p.Ser2194Pro)
5g.112843023T>GCA16037499APCc.7483T>G (p.Ser2495Ala)
c.*7435T>G (n.*7435T>G)
c.7375T>G (p.Ser2459Ala)
c.7429T>G (p.Ser2477Ala)
c.231-13626T>G
c.7459T>G (p.Ser2487Ala)
c.7354T>G (p.Ser2452Ala)
c.7345T>G (p.Ser2449Ala)
c.7306T>G (p.Ser2436Ala)
c.7252T>G (p.Ser2418Ala)
c.7156T>G (p.Ser2386Ala)
c.7126T>G (p.Ser2376Ala)
c.7051T>G (p.Ser2351Ala)
c.6949T>G (p.Ser2317Ala)
c.6580T>G (p.Ser2194Ala)
5g.112843023T=CA1573470663APCc.7483T= (p.Ser2495=)
c.*7435T= (n.*7435T=)
c.7375T= (p.Ser2459=)
c.7429T= (p.Ser2477=)
c.231-13626T=
c.7459T= (p.Ser2487=)
c.7354T= (p.Ser2452=)
c.7345T= (p.Ser2449=)
c.7306T= (p.Ser2436=)
c.7252T= (p.Ser2418=)
c.7156T= (p.Ser2386=)
c.7126T= (p.Ser2376=)
c.7051T= (p.Ser2351=)
c.6949T= (p.Ser2317=)
c.6580T= (p.Ser2194=)
5g.112843023_112843024delinsTCCA1573470662APCc.7483_7484delinsTC (p.Ser2495=)
c.*7435_*7436delinsTC (n.*7435_*7436delinsTC)
c.7375_7376delinsTC (p.Ser2459=)
c.7429_7430delinsTC (p.Ser2477=)
c.231-13626_231-13625delinsTC
c.7459_7460delinsTC (p.Ser2487=)
c.7354_7355delinsTC (p.Ser2452=)
c.7345_7346delinsTC (p.Ser2449=)
c.7306_7307delinsTC (p.Ser2436=)
c.7252_7253delinsTC (p.Ser2418=)
c.7156_7157delinsTC (p.Ser2386=)
c.7126_7127delinsTC (p.Ser2376=)
c.7051_7052delinsTC (p.Ser2351=)
c.6949_6950delinsTC (p.Ser2317=)
c.6580_6581delinsTC (p.Ser2194=)
5g.112843024C>ACA16037500APCc.7484C>A (p.Ser2495Tyr)
c.*7436C>A (n.*7436C>A)
c.7376C>A (p.Ser2459Tyr)
c.7430C>A (p.Ser2477Tyr)
c.231-13625C>A
c.7460C>A (p.Ser2487Tyr)
c.7355C>A (p.Ser2452Tyr)
c.7346C>A (p.Ser2449Tyr)
c.7307C>A (p.Ser2436Tyr)
c.7253C>A (p.Ser2418Tyr)
c.7157C>A (p.Ser2386Tyr)
c.7127C>A (p.Ser2376Tyr)
c.7052C>A (p.Ser2351Tyr)
c.6950C>A (p.Ser2317Tyr)
c.6581C>A (p.Ser2194Tyr)
 dbSNP
5g.112843024C>GCA16037501APCc.7484C>G (p.Ser2495Cys)
c.*7436C>G (n.*7436C>G)
c.7376C>G (p.Ser2459Cys)
c.7430C>G (p.Ser2477Cys)
c.231-13625C>G
c.7460C>G (p.Ser2487Cys)
c.7355C>G (p.Ser2452Cys)
c.7346C>G (p.Ser2449Cys)
c.7307C>G (p.Ser2436Cys)
c.7253C>G (p.Ser2418Cys)
c.7157C>G (p.Ser2386Cys)
c.7127C>G (p.Ser2376Cys)
c.7052C>G (p.Ser2351Cys)
c.6950C>G (p.Ser2317Cys)
c.6581C>G (p.Ser2194Cys)
 dbSNP
5g.112843024C>TCA16037502APCc.7484C>T (p.Ser2495Phe)
c.*7436C>T (n.*7436C>T)
c.7376C>T (p.Ser2459Phe)
c.7430C>T (p.Ser2477Phe)
c.231-13625C>T
c.7460C>T (p.Ser2487Phe)
c.7355C>T (p.Ser2452Phe)
c.7346C>T (p.Ser2449Phe)
c.7307C>T (p.Ser2436Phe)
c.7253C>T (p.Ser2418Phe)
c.7157C>T (p.Ser2386Phe)
c.7127C>T (p.Ser2376Phe)
c.7052C>T (p.Ser2351Phe)
c.6950C>T (p.Ser2317Phe)
c.6581C>T (p.Ser2194Phe)
 ClinVar dbSNP
5g.112843026delCA915943522APCc.7486del (p.Gln2496ArgfsTer7)
c.*7438del (n.*7438del)
c.7378del (p.Gln2460ArgfsTer7)
c.7432del (p.Gln2478ArgfsTer7)
c.231-13623del
c.7462del (p.Gln2488ArgfsTer7)
c.7357del (p.Gln2453ArgfsTer7)
c.7348del (p.Gln2450ArgfsTer7)
c.7309del (p.Gln2437ArgfsTer7)
c.7255del (p.Gln2419ArgfsTer7)
c.7159del (p.Gln2387ArgfsTer7)
c.7129del (p.Gln2377ArgfsTer7)
c.7054del (p.Gln2352ArgfsTer7)
c.6952del (p.Gln2318ArgfsTer7)
c.6583del (p.Gln2195ArgfsTer7)
 ClinVar dbSNP
5g.112843025C>ACA446210647APCc.7485C>A (p.Ser2495=)
c.*7437C>A (n.*7437C>A)
c.7377C>A (p.Ser2459=)
c.7431C>A (p.Ser2477=)
c.231-13624C>A
c.7461C>A (p.Ser2487=)
c.7356C>A (p.Ser2452=)
c.7347C>A (p.Ser2449=)
c.7308C>A (p.Ser2436=)
c.7254C>A (p.Ser2418=)
c.7158C>A (p.Ser2386=)
c.7128C>A (p.Ser2376=)
c.7053C>A (p.Ser2351=)
c.6951C>A (p.Ser2317=)
c.6582C>A (p.Ser2194=)
 dbSNP
5g.112843025C=CA1573470682APCc.7485C= (p.Ser2495=)
c.*7437C= (n.*7437C=)
c.7377C= (p.Ser2459=)
c.7431C= (p.Ser2477=)
c.231-13624C=
c.7461C= (p.Ser2487=)
c.7356C= (p.Ser2452=)
c.7347C= (p.Ser2449=)
c.7308C= (p.Ser2436=)
c.7254C= (p.Ser2418=)
c.7158C= (p.Ser2386=)
c.7128C= (p.Ser2376=)
c.7053C= (p.Ser2351=)
c.6951C= (p.Ser2317=)
c.6582C= (p.Ser2194=)
5g.112843025C>GCA446210648APCc.7485C>G (p.Ser2495=)
c.*7437C>G (n.*7437C>G)
c.7377C>G (p.Ser2459=)
c.7431C>G (p.Ser2477=)
c.231-13624C>G
c.7461C>G (p.Ser2487=)
c.7356C>G (p.Ser2452=)
c.7347C>G (p.Ser2449=)
c.7308C>G (p.Ser2436=)
c.7254C>G (p.Ser2418=)
c.7158C>G (p.Ser2386=)
c.7128C>G (p.Ser2376=)
c.7053C>G (p.Ser2351=)
c.6951C>G (p.Ser2317=)
c.6582C>G (p.Ser2194=)
 ClinVar dbSNP
5g.112843025C>TCA446210649APCc.7485C>T (p.Ser2495=)
c.*7437C>T (n.*7437C>T)
c.7377C>T (p.Ser2459=)
c.7431C>T (p.Ser2477=)
c.231-13624C>T
c.7461C>T (p.Ser2487=)
c.7356C>T (p.Ser2452=)
c.7347C>T (p.Ser2449=)
c.7308C>T (p.Ser2436=)
c.7254C>T (p.Ser2418=)
c.7158C>T (p.Ser2386=)
c.7128C>T (p.Ser2376=)
c.7053C>T (p.Ser2351=)
c.6951C>T (p.Ser2317=)
c.6582C>T (p.Ser2194=)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112843026C>ACA16037503APCc.7486C>A (p.Gln2496Lys)
c.*7438C>A (n.*7438C>A)
c.7378C>A (p.Gln2460Lys)
c.7432C>A (p.Gln2478Lys)
c.231-13623C>A
c.7462C>A (p.Gln2488Lys)
c.7357C>A (p.Gln2453Lys)
c.7348C>A (p.Gln2450Lys)
c.7309C>A (p.Gln2437Lys)
c.7255C>A (p.Gln2419Lys)
c.7159C>A (p.Gln2387Lys)
c.7129C>A (p.Gln2377Lys)
c.7054C>A (p.Gln2352Lys)
c.6952C>A (p.Gln2318Lys)
c.6583C>A (p.Gln2195Lys)
 ClinVar dbSNP
5g.112843026C=CA1573470687APCc.7486C= (p.Gln2496=)
c.*7438C= (n.*7438C=)
c.7378C= (p.Gln2460=)
c.7432C= (p.Gln2478=)
c.231-13623C=
c.7462C= (p.Gln2488=)
c.7357C= (p.Gln2453=)
c.7348C= (p.Gln2450=)
c.7309C= (p.Gln2437=)
c.7255C= (p.Gln2419=)
c.7159C= (p.Gln2387=)
c.7129C= (p.Gln2377=)
c.7054C= (p.Gln2352=)
c.6952C= (p.Gln2318=)
c.6583C= (p.Gln2195=)
5g.112843026C>GCA16037504APCc.7486C>G (p.Gln2496Glu)
c.*7438C>G (n.*7438C>G)
c.7378C>G (p.Gln2460Glu)
c.7432C>G (p.Gln2478Glu)
c.231-13623C>G
c.7462C>G (p.Gln2488Glu)
c.7357C>G (p.Gln2453Glu)
c.7348C>G (p.Gln2450Glu)
c.7309C>G (p.Gln2437Glu)
c.7255C>G (p.Gln2419Glu)
c.7159C>G (p.Gln2387Glu)
c.7129C>G (p.Gln2377Glu)
c.7054C>G (p.Gln2352Glu)
c.6952C>G (p.Gln2318Glu)
c.6583C>G (p.Gln2195Glu)
 ClinVar dbSNP
5g.112843026C>TCA16037505APCc.7486C>T (p.Gln2496Ter)
c.*7438C>T (n.*7438C>T)
c.7378C>T (p.Gln2460Ter)
c.7432C>T (p.Gln2478Ter)
c.231-13623C>T
c.7462C>T (p.Gln2488Ter)
c.7357C>T (p.Gln2453Ter)
c.7348C>T (p.Gln2450Ter)
c.7309C>T (p.Gln2437Ter)
c.7255C>T (p.Gln2419Ter)
c.7159C>T (p.Gln2387Ter)
c.7129C>T (p.Gln2377Ter)
c.7054C>T (p.Gln2352Ter)
c.6952C>T (p.Gln2318Ter)
c.6583C>T (p.Gln2195Ter)
 dbSNP
5g.112843027A=CA1573470697APCc.7487A= (p.Gln2496=)
c.*7439A= (n.*7439A=)
c.7379A= (p.Gln2460=)
c.7433A= (p.Gln2478=)
c.231-13622A=
c.7463A= (p.Gln2488=)
c.7358A= (p.Gln2453=)
c.7349A= (p.Gln2450=)
c.7310A= (p.Gln2437=)
c.7256A= (p.Gln2419=)
c.7160A= (p.Gln2387=)
c.7130A= (p.Gln2377=)
c.7055A= (p.Gln2352=)
c.6953A= (p.Gln2318=)
c.6584A= (p.Gln2195=)
5g.112843027A>CCA048031APCc.7487A>C (p.Gln2496Pro)
c.*7439A>C (n.*7439A>C)
c.7379A>C (p.Gln2460Pro)
c.7433A>C (p.Gln2478Pro)
c.231-13622A>C
c.7463A>C (p.Gln2488Pro)
c.7358A>C (p.Gln2453Pro)
c.7349A>C (p.Gln2450Pro)
c.7310A>C (p.Gln2437Pro)
c.7256A>C (p.Gln2419Pro)
c.7160A>C (p.Gln2387Pro)
c.7130A>C (p.Gln2377Pro)
c.7055A>C (p.Gln2352Pro)
c.6953A>C (p.Gln2318Pro)
c.6584A>C (p.Gln2195Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843027A>GCA16037506APCc.7487A>G (p.Gln2496Arg)
c.*7439A>G (n.*7439A>G)
c.7379A>G (p.Gln2460Arg)
c.7433A>G (p.Gln2478Arg)
c.231-13622A>G
c.7463A>G (p.Gln2488Arg)
c.7358A>G (p.Gln2453Arg)
c.7349A>G (p.Gln2450Arg)
c.7310A>G (p.Gln2437Arg)
c.7256A>G (p.Gln2419Arg)
c.7160A>G (p.Gln2387Arg)
c.7130A>G (p.Gln2377Arg)
c.7055A>G (p.Gln2352Arg)
c.6953A>G (p.Gln2318Arg)
c.6584A>G (p.Gln2195Arg)
 dbSNP
5g.112843027A>TCA16037507APCc.7487A>T (p.Gln2496Leu)
c.*7439A>T (n.*7439A>T)
c.7379A>T (p.Gln2460Leu)
c.7433A>T (p.Gln2478Leu)
c.231-13622A>T
c.7463A>T (p.Gln2488Leu)
c.7358A>T (p.Gln2453Leu)
c.7349A>T (p.Gln2450Leu)
c.7310A>T (p.Gln2437Leu)
c.7256A>T (p.Gln2419Leu)
c.7160A>T (p.Gln2387Leu)
c.7130A>T (p.Gln2377Leu)
c.7055A>T (p.Gln2352Leu)
c.6953A>T (p.Gln2318Leu)
c.6584A>T (p.Gln2195Leu)
 dbSNP
5g.112843028G>ACA446210656APCc.7488G>A (p.Gln2496=)
c.*7440G>A (n.*7440G>A)
c.7380G>A (p.Gln2460=)
c.7434G>A (p.Gln2478=)
c.231-13621G>A
c.7464G>A (p.Gln2488=)
c.7359G>A (p.Gln2453=)
c.7350G>A (p.Gln2450=)
c.7311G>A (p.Gln2437=)
c.7257G>A (p.Gln2419=)
c.7161G>A (p.Gln2387=)
c.7131G>A (p.Gln2377=)
c.7056G>A (p.Gln2352=)
c.6954G>A (p.Gln2318=)
c.6585G>A (p.Gln2195=)
 ClinVar dbSNP
5g.112843028G>CCA16037508APCc.7488G>C (p.Gln2496His)
c.*7440G>C (n.*7440G>C)
c.7380G>C (p.Gln2460His)
c.7434G>C (p.Gln2478His)
c.231-13621G>C
c.7464G>C (p.Gln2488His)
c.7359G>C (p.Gln2453His)
c.7350G>C (p.Gln2450His)
c.7311G>C (p.Gln2437His)
c.7257G>C (p.Gln2419His)
c.7161G>C (p.Gln2387His)
c.7131G>C (p.Gln2377His)
c.7056G>C (p.Gln2352His)
c.6954G>C (p.Gln2318His)
c.6585G>C (p.Gln2195His)
 dbSNP
5g.112843028G=CA1573470704APCc.7488G= (p.Gln2496=)
c.*7440G= (n.*7440G=)
c.7380G= (p.Gln2460=)
c.7434G= (p.Gln2478=)
c.231-13621G=
c.7464G= (p.Gln2488=)
c.7359G= (p.Gln2453=)
c.7350G= (p.Gln2450=)
c.7311G= (p.Gln2437=)
c.7257G= (p.Gln2419=)
c.7161G= (p.Gln2387=)
c.7131G= (p.Gln2377=)
c.7056G= (p.Gln2352=)
c.6954G= (p.Gln2318=)
c.6585G= (p.Gln2195=)
5g.112843028G>TCA16037509APCc.7488G>T (p.Gln2496His)
c.*7440G>T (n.*7440G>T)
c.7380G>T (p.Gln2460His)
c.7434G>T (p.Gln2478His)
c.231-13621G>T
c.7464G>T (p.Gln2488His)
c.7359G>T (p.Gln2453His)
c.7350G>T (p.Gln2450His)
c.7311G>T (p.Gln2437His)
c.7257G>T (p.Gln2419His)
c.7161G>T (p.Gln2387His)
c.7131G>T (p.Gln2377His)
c.7056G>T (p.Gln2352His)
c.6954G>T (p.Gln2318His)
c.6585G>T (p.Gln2195His)
 ClinVar dbSNP
5g.112843029G>ACA16037510APCc.7489G>A (p.Ala2497Thr)
c.*7441G>A (n.*7441G>A)
c.7381G>A (p.Ala2461Thr)
c.7435G>A (p.Ala2479Thr)
c.231-13620G>A
c.7465G>A (p.Ala2489Thr)
c.7360G>A (p.Ala2454Thr)
c.7351G>A (p.Ala2451Thr)
c.7312G>A (p.Ala2438Thr)
c.7258G>A (p.Ala2420Thr)
c.7162G>A (p.Ala2388Thr)
c.7132G>A (p.Ala2378Thr)
c.7057G>A (p.Ala2353Thr)
c.6955G>A (p.Ala2319Thr)
c.6586G>A (p.Ala2196Thr)
 ClinVar dbSNP
5g.112843029G>CCA16037511APCc.7489G>C (p.Ala2497Pro)
c.*7441G>C (n.*7441G>C)
c.7381G>C (p.Ala2461Pro)
c.7435G>C (p.Ala2479Pro)
c.231-13620G>C
c.7465G>C (p.Ala2489Pro)
c.7360G>C (p.Ala2454Pro)
c.7351G>C (p.Ala2451Pro)
c.7312G>C (p.Ala2438Pro)
c.7258G>C (p.Ala2420Pro)
c.7162G>C (p.Ala2388Pro)
c.7132G>C (p.Ala2378Pro)
c.7057G>C (p.Ala2353Pro)
c.6955G>C (p.Ala2319Pro)
c.6586G>C (p.Ala2196Pro)
 dbSNP gnomAD v4
5g.112843029G=CA1573470711APCc.7489G= (p.Ala2497=)
c.*7441G= (n.*7441G=)
c.7381G= (p.Ala2461=)
c.7435G= (p.Ala2479=)
c.231-13620G=
c.7465G= (p.Ala2489=)
c.7360G= (p.Ala2454=)
c.7351G= (p.Ala2451=)
c.7312G= (p.Ala2438=)
c.7258G= (p.Ala2420=)
c.7162G= (p.Ala2388=)
c.7132G= (p.Ala2378=)
c.7057G= (p.Ala2353=)
c.6955G= (p.Ala2319=)
c.6586G= (p.Ala2196=)
5g.112843029G>TCA16037512APCc.7489G>T (p.Ala2497Ser)
c.*7441G>T (n.*7441G>T)
c.7381G>T (p.Ala2461Ser)
c.7435G>T (p.Ala2479Ser)
c.231-13620G>T
c.7465G>T (p.Ala2489Ser)
c.7360G>T (p.Ala2454Ser)
c.7351G>T (p.Ala2451Ser)
c.7312G>T (p.Ala2438Ser)
c.7258G>T (p.Ala2420Ser)
c.7162G>T (p.Ala2388Ser)
c.7132G>T (p.Ala2378Ser)
c.7057G>T (p.Ala2353Ser)
c.6955G>T (p.Ala2319Ser)
c.6586G>T (p.Ala2196Ser)
 dbSNP
5g.112843030C>ACA16037513APCc.7490C>A (p.Ala2497Glu)
c.*7442C>A (n.*7442C>A)
c.7382C>A (p.Ala2461Glu)
c.7436C>A (p.Ala2479Glu)
c.231-13619C>A
c.7466C>A (p.Ala2489Glu)
c.7361C>A (p.Ala2454Glu)
c.7352C>A (p.Ala2451Glu)
c.7313C>A (p.Ala2438Glu)
c.7259C>A (p.Ala2420Glu)
c.7163C>A (p.Ala2388Glu)
c.7133C>A (p.Ala2378Glu)
c.7058C>A (p.Ala2353Glu)
c.6956C>A (p.Ala2319Glu)
c.6587C>A (p.Ala2196Glu)
 dbSNP
5g.112843030C>GCA16037514APCc.7490C>G (p.Ala2497Gly)
c.*7442C>G (n.*7442C>G)
c.7382C>G (p.Ala2461Gly)
c.7436C>G (p.Ala2479Gly)
c.231-13619C>G
c.7466C>G (p.Ala2489Gly)
c.7361C>G (p.Ala2454Gly)
c.7352C>G (p.Ala2451Gly)
c.7313C>G (p.Ala2438Gly)
c.7259C>G (p.Ala2420Gly)
c.7163C>G (p.Ala2388Gly)
c.7133C>G (p.Ala2378Gly)
c.7058C>G (p.Ala2353Gly)
c.6956C>G (p.Ala2319Gly)
c.6587C>G (p.Ala2196Gly)
 dbSNP
5g.112843030C>TCA16037515APCc.7490C>T (p.Ala2497Val)
c.*7442C>T (n.*7442C>T)
c.7382C>T (p.Ala2461Val)
c.7436C>T (p.Ala2479Val)
c.231-13619C>T
c.7466C>T (p.Ala2489Val)
c.7361C>T (p.Ala2454Val)
c.7352C>T (p.Ala2451Val)
c.7313C>T (p.Ala2438Val)
c.7259C>T (p.Ala2420Val)
c.7163C>T (p.Ala2388Val)
c.7133C>T (p.Ala2378Val)
c.7058C>T (p.Ala2353Val)
c.6956C>T (p.Ala2319Val)
c.6587C>T (p.Ala2196Val)
 ClinVar dbSNP
5g.112843031A>CCA446210668APCc.7491A>C (p.Ala2497=)
c.*7443A>C (n.*7443A>C)
c.7383A>C (p.Ala2461=)
c.7437A>C (p.Ala2479=)
c.231-13618A>C
c.7467A>C (p.Ala2489=)
c.7362A>C (p.Ala2454=)
c.7353A>C (p.Ala2451=)
c.7314A>C (p.Ala2438=)
c.7260A>C (p.Ala2420=)
c.7164A>C (p.Ala2388=)
c.7134A>C (p.Ala2378=)
c.7059A>C (p.Ala2353=)
c.6957A>C (p.Ala2319=)
c.6588A>C (p.Ala2196=)
 dbSNP
5g.112843031A>GCA446210672APCc.7491A>G (p.Ala2497=)
c.*7443A>G (n.*7443A>G)
c.7383A>G (p.Ala2461=)
c.7437A>G (p.Ala2479=)
c.231-13618A>G
c.7467A>G (p.Ala2489=)
c.7362A>G (p.Ala2454=)
c.7353A>G (p.Ala2451=)
c.7314A>G (p.Ala2438=)
c.7260A>G (p.Ala2420=)
c.7164A>G (p.Ala2388=)
c.7134A>G (p.Ala2378=)
c.7059A>G (p.Ala2353=)
c.6957A>G (p.Ala2319=)
c.6588A>G (p.Ala2196=)
 dbSNP
5g.112843031A>TCA446210674APCc.7491A>T (p.Ala2497=)
c.*7443A>T (n.*7443A>T)
c.7383A>T (p.Ala2461=)
c.7437A>T (p.Ala2479=)
c.231-13618A>T
c.7467A>T (p.Ala2489=)
c.7362A>T (p.Ala2454=)
c.7353A>T (p.Ala2451=)
c.7314A>T (p.Ala2438=)
c.7260A>T (p.Ala2420=)
c.7164A>T (p.Ala2388=)
c.7134A>T (p.Ala2378=)
c.7059A>T (p.Ala2353=)
c.6957A>T (p.Ala2319=)
c.6588A>T (p.Ala2196=)
 dbSNP
5g.112843032C>ACA16037516APCc.7492C>A (p.Gln2498Lys)
c.*7444C>A (n.*7444C>A)
c.7384C>A (p.Gln2462Lys)
c.7438C>A (p.Gln2480Lys)
c.231-13617C>A
c.7468C>A (p.Gln2490Lys)
c.7363C>A (p.Gln2455Lys)
c.7354C>A (p.Gln2452Lys)
c.7315C>A (p.Gln2439Lys)
c.7261C>A (p.Gln2421Lys)
c.7165C>A (p.Gln2389Lys)
c.7135C>A (p.Gln2379Lys)
c.7060C>A (p.Gln2354Lys)
c.6958C>A (p.Gln2320Lys)
c.6589C>A (p.Gln2197Lys)
 dbSNP
5g.112843032C=CA1573470728APCc.7492C= (p.Gln2498=)
c.*7444C= (n.*7444C=)
c.7384C= (p.Gln2462=)
c.7438C= (p.Gln2480=)
c.231-13617C=
c.7468C= (p.Gln2490=)
c.7363C= (p.Gln2455=)
c.7354C= (p.Gln2452=)
c.7315C= (p.Gln2439=)
c.7261C= (p.Gln2421=)
c.7165C= (p.Gln2389=)
c.7135C= (p.Gln2379=)
c.7060C= (p.Gln2354=)
c.6958C= (p.Gln2320=)
c.6589C= (p.Gln2197=)
5g.112843032C>GCA16037517APCc.7492C>G (p.Gln2498Glu)
c.*7444C>G (n.*7444C>G)
c.7384C>G (p.Gln2462Glu)
c.7438C>G (p.Gln2480Glu)
c.231-13617C>G
c.7468C>G (p.Gln2490Glu)
c.7363C>G (p.Gln2455Glu)
c.7354C>G (p.Gln2452Glu)
c.7315C>G (p.Gln2439Glu)
c.7261C>G (p.Gln2421Glu)
c.7165C>G (p.Gln2389Glu)
c.7135C>G (p.Gln2379Glu)
c.7060C>G (p.Gln2354Glu)
c.6958C>G (p.Gln2320Glu)
c.6589C>G (p.Gln2197Glu)
 ClinVar dbSNP
5g.112843032C>TCA16037518APCc.7492C>T (p.Gln2498Ter)
c.*7444C>T (n.*7444C>T)
c.7384C>T (p.Gln2462Ter)
c.7438C>T (p.Gln2480Ter)
c.231-13617C>T
c.7468C>T (p.Gln2490Ter)
c.7363C>T (p.Gln2455Ter)
c.7354C>T (p.Gln2452Ter)
c.7315C>T (p.Gln2439Ter)
c.7261C>T (p.Gln2421Ter)
c.7165C>T (p.Gln2389Ter)
c.7135C>T (p.Gln2379Ter)
c.7060C>T (p.Gln2354Ter)
c.6958C>T (p.Gln2320Ter)
c.6589C>T (p.Gln2197Ter)
 ClinVar dbSNP COSMIC
5g.112843033A=CA1573470740APCc.7493A= (p.Gln2498=)
c.*7445A= (n.*7445A=)
c.7385A= (p.Gln2462=)
c.7439A= (p.Gln2480=)
c.231-13616A=
c.7469A= (p.Gln2490=)
c.7364A= (p.Gln2455=)
c.7355A= (p.Gln2452=)
c.7316A= (p.Gln2439=)
c.7262A= (p.Gln2421=)
c.7166A= (p.Gln2389=)
c.7136A= (p.Gln2379=)
c.7061A= (p.Gln2354=)
c.6959A= (p.Gln2320=)
c.6590A= (p.Gln2197=)
5g.112843033A>CCA16037519APCc.7493A>C (p.Gln2498Pro)
c.*7445A>C (n.*7445A>C)
c.7385A>C (p.Gln2462Pro)
c.7439A>C (p.Gln2480Pro)
c.231-13616A>C
c.7469A>C (p.Gln2490Pro)
c.7364A>C (p.Gln2455Pro)
c.7355A>C (p.Gln2452Pro)
c.7316A>C (p.Gln2439Pro)
c.7262A>C (p.Gln2421Pro)
c.7166A>C (p.Gln2389Pro)
c.7136A>C (p.Gln2379Pro)
c.7061A>C (p.Gln2354Pro)
c.6959A>C (p.Gln2320Pro)
c.6590A>C (p.Gln2197Pro)
5g.112843033A>GCA16037520APCc.7493A>G (p.Gln2498Arg)
c.*7445A>G (n.*7445A>G)
c.7385A>G (p.Gln2462Arg)
c.7439A>G (p.Gln2480Arg)
c.231-13616A>G
c.7469A>G (p.Gln2490Arg)
c.7364A>G (p.Gln2455Arg)
c.7355A>G (p.Gln2452Arg)
c.7316A>G (p.Gln2439Arg)
c.7262A>G (p.Gln2421Arg)
c.7166A>G (p.Gln2389Arg)
c.7136A>G (p.Gln2379Arg)
c.7061A>G (p.Gln2354Arg)
c.6959A>G (p.Gln2320Arg)
c.6590A>G (p.Gln2197Arg)
 ClinVar dbSNP
5g.112843033A>TCA16037521APCc.7493A>T (p.Gln2498Leu)
c.*7445A>T (n.*7445A>T)
c.7385A>T (p.Gln2462Leu)
c.7439A>T (p.Gln2480Leu)
c.231-13616A>T
c.7469A>T (p.Gln2490Leu)
c.7364A>T (p.Gln2455Leu)
c.7355A>T (p.Gln2452Leu)
c.7316A>T (p.Gln2439Leu)
c.7262A>T (p.Gln2421Leu)
c.7166A>T (p.Gln2389Leu)
c.7136A>T (p.Gln2379Leu)
c.7061A>T (p.Gln2354Leu)
c.6959A>T (p.Gln2320Leu)
c.6590A>T (p.Gln2197Leu)
 dbSNP
5g.112843034A>CCA16037522APCc.7494A>C (p.Gln2498His)
c.*7446A>C (n.*7446A>C)
c.7386A>C (p.Gln2462His)
c.7440A>C (p.Gln2480His)
c.231-13615A>C
c.7470A>C (p.Gln2490His)
c.7365A>C (p.Gln2455His)
c.7356A>C (p.Gln2452His)
c.7317A>C (p.Gln2439His)
c.7263A>C (p.Gln2421His)
c.7167A>C (p.Gln2389His)
c.7137A>C (p.Gln2379His)
c.7062A>C (p.Gln2354His)
c.6960A>C (p.Gln2320His)
c.6591A>C (p.Gln2197His)
 dbSNP
5g.112843034A>GCA446210680APCc.7494A>G (p.Gln2498=)
c.*7446A>G (n.*7446A>G)
c.7386A>G (p.Gln2462=)
c.7440A>G (p.Gln2480=)
c.231-13615A>G
c.7470A>G (p.Gln2490=)
c.7365A>G (p.Gln2455=)
c.7356A>G (p.Gln2452=)
c.7317A>G (p.Gln2439=)
c.7263A>G (p.Gln2421=)
c.7167A>G (p.Gln2389=)
c.7137A>G (p.Gln2379=)
c.7062A>G (p.Gln2354=)
c.6960A>G (p.Gln2320=)
c.6591A>G (p.Gln2197=)
 dbSNP
5g.112843034A>TCA16037523APCc.7494A>T (p.Gln2498His)
c.*7446A>T (n.*7446A>T)
c.7386A>T (p.Gln2462His)
c.7440A>T (p.Gln2480His)
c.231-13615A>T
c.7470A>T (p.Gln2490His)
c.7365A>T (p.Gln2455His)
c.7356A>T (p.Gln2452His)
c.7317A>T (p.Gln2439His)
c.7263A>T (p.Gln2421His)
c.7167A>T (p.Gln2389His)
c.7137A>T (p.Gln2379His)
c.7062A>T (p.Gln2354His)
c.6960A>T (p.Gln2320His)
c.6591A>T (p.Gln2197His)
 dbSNP
5g.112843035A=CA1573470747APCc.7495A= (p.Thr2499=)
c.*7447A= (n.*7447A=)
c.7387A= (p.Thr2463=)
c.7441A= (p.Thr2481=)
c.231-13614A=
c.7471A= (p.Thr2491=)
c.7366A= (p.Thr2456=)
c.7357A= (p.Thr2453=)
c.7318A= (p.Thr2440=)
c.7264A= (p.Thr2422=)
c.7168A= (p.Thr2390=)
c.7138A= (p.Thr2380=)
c.7063A= (p.Thr2355=)
c.6961A= (p.Thr2321=)
c.6592A= (p.Thr2198=)
5g.112843035A>CCA16037524APCc.7495A>C (p.Thr2499Pro)
c.*7447A>C (n.*7447A>C)
c.7387A>C (p.Thr2463Pro)
c.7441A>C (p.Thr2481Pro)
c.231-13614A>C
c.7471A>C (p.Thr2491Pro)
c.7366A>C (p.Thr2456Pro)
c.7357A>C (p.Thr2453Pro)
c.7318A>C (p.Thr2440Pro)
c.7264A>C (p.Thr2422Pro)
c.7168A>C (p.Thr2390Pro)
c.7138A>C (p.Thr2380Pro)
c.7063A>C (p.Thr2355Pro)
c.6961A>C (p.Thr2321Pro)
c.6592A>C (p.Thr2198Pro)
 ClinVar dbSNP
5g.112843035A>GCA16037525APCc.7495A>G (p.Thr2499Ala)
c.*7447A>G (n.*7447A>G)
c.7387A>G (p.Thr2463Ala)
c.7441A>G (p.Thr2481Ala)
c.231-13614A>G
c.7471A>G (p.Thr2491Ala)
c.7366A>G (p.Thr2456Ala)
c.7357A>G (p.Thr2453Ala)
c.7318A>G (p.Thr2440Ala)
c.7264A>G (p.Thr2422Ala)
c.7168A>G (p.Thr2390Ala)
c.7138A>G (p.Thr2380Ala)
c.7063A>G (p.Thr2355Ala)
c.6961A>G (p.Thr2321Ala)
c.6592A>G (p.Thr2198Ala)
 dbSNP
5g.112843035A>TCA16037526APCc.7495A>T (p.Thr2499Ser)
c.*7447A>T (n.*7447A>T)
c.7387A>T (p.Thr2463Ser)
c.7441A>T (p.Thr2481Ser)
c.231-13614A>T
c.7471A>T (p.Thr2491Ser)
c.7366A>T (p.Thr2456Ser)
c.7357A>T (p.Thr2453Ser)
c.7318A>T (p.Thr2440Ser)
c.7264A>T (p.Thr2422Ser)
c.7168A>T (p.Thr2390Ser)
c.7138A>T (p.Thr2380Ser)
c.7063A>T (p.Thr2355Ser)
c.6961A>T (p.Thr2321Ser)
c.6592A>T (p.Thr2198Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843036C>ACA16037527APCc.7496C>A (p.Thr2499Asn)
c.*7448C>A (n.*7448C>A)
c.7388C>A (p.Thr2463Asn)
c.7442C>A (p.Thr2481Asn)
c.231-13613C>A
c.7472C>A (p.Thr2491Asn)
c.7367C>A (p.Thr2456Asn)
c.7358C>A (p.Thr2453Asn)
c.7319C>A (p.Thr2440Asn)
c.7265C>A (p.Thr2422Asn)
c.7169C>A (p.Thr2390Asn)
c.7139C>A (p.Thr2380Asn)
c.7064C>A (p.Thr2355Asn)
c.6962C>A (p.Thr2321Asn)
c.6593C>A (p.Thr2198Asn)
 ClinVar dbSNP
5g.112843036C=CA1573470753APCc.7496C= (p.Thr2499=)
c.*7448C= (n.*7448C=)
c.7388C= (p.Thr2463=)
c.7442C= (p.Thr2481=)
c.231-13613C=
c.7472C= (p.Thr2491=)
c.7367C= (p.Thr2456=)
c.7358C= (p.Thr2453=)
c.7319C= (p.Thr2440=)
c.7265C= (p.Thr2422=)
c.7169C= (p.Thr2390=)
c.7139C= (p.Thr2380=)
c.7064C= (p.Thr2355=)
c.6962C= (p.Thr2321=)
c.6593C= (p.Thr2198=)
5g.112843036C>GCA16037528APCc.7496C>G (p.Thr2499Ser)
c.*7448C>G (n.*7448C>G)
c.7388C>G (p.Thr2463Ser)
c.7442C>G (p.Thr2481Ser)
c.231-13613C>G
c.7472C>G (p.Thr2491Ser)
c.7367C>G (p.Thr2456Ser)
c.7358C>G (p.Thr2453Ser)
c.7319C>G (p.Thr2440Ser)
c.7265C>G (p.Thr2422Ser)
c.7169C>G (p.Thr2390Ser)
c.7139C>G (p.Thr2380Ser)
c.7064C>G (p.Thr2355Ser)
c.6962C>G (p.Thr2321Ser)
c.6593C>G (p.Thr2198Ser)
 dbSNP
5g.112843036C>TCA16037529APCc.7496C>T (p.Thr2499Ile)
c.*7448C>T (n.*7448C>T)
c.7388C>T (p.Thr2463Ile)
c.7442C>T (p.Thr2481Ile)
c.231-13613C>T
c.7472C>T (p.Thr2491Ile)
c.7367C>T (p.Thr2456Ile)
c.7358C>T (p.Thr2453Ile)
c.7319C>T (p.Thr2440Ile)
c.7265C>T (p.Thr2422Ile)
c.7169C>T (p.Thr2390Ile)
c.7139C>T (p.Thr2380Ile)
c.7064C>T (p.Thr2355Ile)
c.6962C>T (p.Thr2321Ile)
c.6593C>T (p.Thr2198Ile)
 ClinVar dbSNP gnomAD v4
5g.112843037T>ACA048049APCc.7497T>A (p.Thr2499=)
c.*7449T>A (n.*7449T>A)
c.7389T>A (p.Thr2463=)
c.7443T>A (p.Thr2481=)
c.231-13612T>A
c.7473T>A (p.Thr2491=)
c.7368T>A (p.Thr2456=)
c.7359T>A (p.Thr2453=)
c.7320T>A (p.Thr2440=)
c.7266T>A (p.Thr2422=)
c.7170T>A (p.Thr2390=)
c.7140T>A (p.Thr2380=)
c.7065T>A (p.Thr2355=)
c.6963T>A (p.Thr2321=)
c.6594T>A (p.Thr2198=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843037T>CCA446210689APCc.7497T>C (p.Thr2499=)
c.*7449T>C (n.*7449T>C)
c.7389T>C (p.Thr2463=)
c.7443T>C (p.Thr2481=)
c.231-13612T>C
c.7473T>C (p.Thr2491=)
c.7368T>C (p.Thr2456=)
c.7359T>C (p.Thr2453=)
c.7320T>C (p.Thr2440=)
c.7266T>C (p.Thr2422=)
c.7170T>C (p.Thr2390=)
c.7140T>C (p.Thr2380=)
c.7065T>C (p.Thr2355=)
c.6963T>C (p.Thr2321=)
c.6594T>C (p.Thr2198=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843037T>GCA446210691APCc.7497T>G (p.Thr2499=)
c.*7449T>G (n.*7449T>G)
c.7389T>G (p.Thr2463=)
c.7443T>G (p.Thr2481=)
c.231-13612T>G
c.7473T>G (p.Thr2491=)
c.7368T>G (p.Thr2456=)
c.7359T>G (p.Thr2453=)
c.7320T>G (p.Thr2440=)
c.7266T>G (p.Thr2422=)
c.7170T>G (p.Thr2390=)
c.7140T>G (p.Thr2380=)
c.7065T>G (p.Thr2355=)
c.6963T>G (p.Thr2321=)
c.6594T>G (p.Thr2198=)
 ClinVar dbSNP
5g.112843037T=CA1573470760APCc.7497T= (p.Thr2499=)
c.*7449T= (n.*7449T=)
c.7389T= (p.Thr2463=)
c.7443T= (p.Thr2481=)
c.231-13612T=
c.7473T= (p.Thr2491=)
c.7368T= (p.Thr2456=)
c.7359T= (p.Thr2453=)
c.7320T= (p.Thr2440=)
c.7266T= (p.Thr2422=)
c.7170T= (p.Thr2390=)
c.7140T= (p.Thr2380=)
c.7065T= (p.Thr2355=)
c.6963T= (p.Thr2321=)
c.6594T= (p.Thr2198=)
5g.112843038C>ACA16037530APCc.7498C>A (p.Pro2500Thr)
c.*7450C>A (n.*7450C>A)
c.7390C>A (p.Pro2464Thr)
c.7444C>A (p.Pro2482Thr)
c.231-13611C>A
c.7474C>A (p.Pro2492Thr)
c.7369C>A (p.Pro2457Thr)
c.7360C>A (p.Pro2454Thr)
c.7321C>A (p.Pro2441Thr)
c.7267C>A (p.Pro2423Thr)
c.7171C>A (p.Pro2391Thr)
c.7141C>A (p.Pro2381Thr)
c.7066C>A (p.Pro2356Thr)
c.6964C>A (p.Pro2322Thr)
c.6595C>A (p.Pro2199Thr)
 dbSNP
5g.112843038C=CA1573470767APCc.7498C= (p.Pro2500=)
c.*7450C= (n.*7450C=)
c.7390C= (p.Pro2464=)
c.7444C= (p.Pro2482=)
c.231-13611C=
c.7474C= (p.Pro2492=)
c.7369C= (p.Pro2457=)
c.7360C= (p.Pro2454=)
c.7321C= (p.Pro2441=)
c.7267C= (p.Pro2423=)
c.7171C= (p.Pro2391=)
c.7141C= (p.Pro2381=)
c.7066C= (p.Pro2356=)
c.6964C= (p.Pro2322=)
c.6595C= (p.Pro2199=)
5g.112843038C>GCA013688APCc.7498C>G (p.Pro2500Ala)
c.*7450C>G (n.*7450C>G)
c.7390C>G (p.Pro2464Ala)
c.7444C>G (p.Pro2482Ala)
c.231-13611C>G
c.7474C>G (p.Pro2492Ala)
c.7369C>G (p.Pro2457Ala)
c.7360C>G (p.Pro2454Ala)
c.7321C>G (p.Pro2441Ala)
c.7267C>G (p.Pro2423Ala)
c.7171C>G (p.Pro2391Ala)
c.7141C>G (p.Pro2381Ala)
c.7066C>G (p.Pro2356Ala)
c.6964C>G (p.Pro2322Ala)
c.6595C>G (p.Pro2199Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843038C>TCA16037531APCc.7498C>T (p.Pro2500Ser)
c.*7450C>T (n.*7450C>T)
c.7390C>T (p.Pro2464Ser)
c.7444C>T (p.Pro2482Ser)
c.231-13611C>T
c.7474C>T (p.Pro2492Ser)
c.7369C>T (p.Pro2457Ser)
c.7360C>T (p.Pro2454Ser)
c.7321C>T (p.Pro2441Ser)
c.7267C>T (p.Pro2423Ser)
c.7171C>T (p.Pro2391Ser)
c.7141C>T (p.Pro2381Ser)
c.7066C>T (p.Pro2356Ser)
c.6964C>T (p.Pro2322Ser)
c.6595C>T (p.Pro2199Ser)
 dbSNP
5g.112843039C>ACA16037532APCc.7499C>A (p.Pro2500Gln)
c.*7451C>A (n.*7451C>A)
c.7391C>A (p.Pro2464Gln)
c.7445C>A (p.Pro2482Gln)
c.231-13610C>A
c.7475C>A (p.Pro2492Gln)
c.7370C>A (p.Pro2457Gln)
c.7361C>A (p.Pro2454Gln)
c.7322C>A (p.Pro2441Gln)
c.7268C>A (p.Pro2423Gln)
c.7172C>A (p.Pro2391Gln)
c.7142C>A (p.Pro2381Gln)
c.7067C>A (p.Pro2356Gln)
c.6965C>A (p.Pro2322Gln)
c.6596C>A (p.Pro2199Gln)
 dbSNP
5g.112843039C=CA1573470775APCc.7499C= (p.Pro2500=)
c.*7451C= (n.*7451C=)
c.7391C= (p.Pro2464=)
c.7445C= (p.Pro2482=)
c.231-13610C=
c.7475C= (p.Pro2492=)
c.7370C= (p.Pro2457=)
c.7361C= (p.Pro2454=)
c.7322C= (p.Pro2441=)
c.7268C= (p.Pro2423=)
c.7172C= (p.Pro2391=)
c.7142C= (p.Pro2381=)
c.7067C= (p.Pro2356=)
c.6965C= (p.Pro2322=)
c.6596C= (p.Pro2199=)
5g.112843039C>GCA16037533APCc.7499C>G (p.Pro2500Arg)
c.*7451C>G (n.*7451C>G)
c.7391C>G (p.Pro2464Arg)
c.7445C>G (p.Pro2482Arg)
c.231-13610C>G
c.7475C>G (p.Pro2492Arg)
c.7370C>G (p.Pro2457Arg)
c.7361C>G (p.Pro2454Arg)
c.7322C>G (p.Pro2441Arg)
c.7268C>G (p.Pro2423Arg)
c.7172C>G (p.Pro2391Arg)
c.7142C>G (p.Pro2381Arg)
c.7067C>G (p.Pro2356Arg)
c.6965C>G (p.Pro2322Arg)
c.6596C>G (p.Pro2199Arg)
 dbSNP
5g.112843039C>TCA16037534APCc.7499C>T (p.Pro2500Leu)
c.*7451C>T (n.*7451C>T)
c.7391C>T (p.Pro2464Leu)
c.7445C>T (p.Pro2482Leu)
c.231-13610C>T
c.7475C>T (p.Pro2492Leu)
c.7370C>T (p.Pro2457Leu)
c.7361C>T (p.Pro2454Leu)
c.7322C>T (p.Pro2441Leu)
c.7268C>T (p.Pro2423Leu)
c.7172C>T (p.Pro2391Leu)
c.7142C>T (p.Pro2381Leu)
c.7067C>T (p.Pro2356Leu)
c.6965C>T (p.Pro2322Leu)
c.6596C>T (p.Pro2199Leu)
 ClinVar dbSNP
5g.112843040A=CA1573470789APCc.7500A= (p.Pro2500=)
c.*7452A= (n.*7452A=)
c.7392A= (p.Pro2464=)
c.7446A= (p.Pro2482=)
c.231-13609A=
c.7476A= (p.Pro2492=)
c.7371A= (p.Pro2457=)
c.7362A= (p.Pro2454=)
c.7323A= (p.Pro2441=)
c.7269A= (p.Pro2423=)
c.7173A= (p.Pro2391=)
c.7143A= (p.Pro2381=)
c.7068A= (p.Pro2356=)
c.6966A= (p.Pro2322=)
c.6597A= (p.Pro2199=)
5g.112843040A>CCA446210699APCc.7500A>C (p.Pro2500=)
c.*7452A>C (n.*7452A>C)
c.7392A>C (p.Pro2464=)
c.7446A>C (p.Pro2482=)
c.231-13609A>C
c.7476A>C (p.Pro2492=)
c.7371A>C (p.Pro2457=)
c.7362A>C (p.Pro2454=)
c.7323A>C (p.Pro2441=)
c.7269A>C (p.Pro2423=)
c.7173A>C (p.Pro2391=)
c.7143A>C (p.Pro2381=)
c.7068A>C (p.Pro2356=)
c.6966A>C (p.Pro2322=)
c.6597A>C (p.Pro2199=)
 ClinVar dbSNP gnomAD v4
5g.112843040A>GCA048062APCc.7500A>G (p.Pro2500=)
c.*7452A>G (n.*7452A>G)
c.7392A>G (p.Pro2464=)
c.7446A>G (p.Pro2482=)
c.231-13609A>G
c.7476A>G (p.Pro2492=)
c.7371A>G (p.Pro2457=)
c.7362A>G (p.Pro2454=)
c.7323A>G (p.Pro2441=)
c.7269A>G (p.Pro2423=)
c.7173A>G (p.Pro2391=)
c.7143A>G (p.Pro2381=)
c.7068A>G (p.Pro2356=)
c.6966A>G (p.Pro2322=)
c.6597A>G (p.Pro2199=)
 dbSNP ExAC gnomAD v2
5g.112843040A>TCA125167820APCc.7500A>T (p.Pro2500=)
c.*7452A>T (n.*7452A>T)
c.7392A>T (p.Pro2464=)
c.7446A>T (p.Pro2482=)
c.231-13609A>T
c.7476A>T (p.Pro2492=)
c.7371A>T (p.Pro2457=)
c.7362A>T (p.Pro2454=)
c.7323A>T (p.Pro2441=)
c.7269A>T (p.Pro2423=)
c.7173A>T (p.Pro2391=)
c.7143A>T (p.Pro2381=)
c.7068A>T (p.Pro2356=)
c.6966A>T (p.Pro2322=)
c.6597A>T (p.Pro2199=)
 dbSNP
5g.112843041G>ACA16037535APCc.7501G>A (p.Val2501Ile)
c.*7453G>A (n.*7453G>A)
c.7393G>A (p.Val2465Ile)
c.7447G>A (p.Val2483Ile)
c.231-13608G>A
c.7477G>A (p.Val2493Ile)
c.7372G>A (p.Val2458Ile)
c.7363G>A (p.Val2455Ile)
c.7324G>A (p.Val2442Ile)
c.7270G>A (p.Val2424Ile)
c.7174G>A (p.Val2392Ile)
c.7144G>A (p.Val2382Ile)
c.7069G>A (p.Val2357Ile)
c.6967G>A (p.Val2323Ile)
c.6598G>A (p.Val2200Ile)
 ClinVar dbSNP
5g.112843041G>CCA16037536APCc.7501G>C (p.Val2501Leu)
c.*7453G>C (n.*7453G>C)
c.7393G>C (p.Val2465Leu)
c.7447G>C (p.Val2483Leu)
c.231-13608G>C
c.7477G>C (p.Val2493Leu)
c.7372G>C (p.Val2458Leu)
c.7363G>C (p.Val2455Leu)
c.7324G>C (p.Val2442Leu)
c.7270G>C (p.Val2424Leu)
c.7174G>C (p.Val2392Leu)
c.7144G>C (p.Val2382Leu)
c.7069G>C (p.Val2357Leu)
c.6967G>C (p.Val2323Leu)
c.6598G>C (p.Val2200Leu)
 ClinVar
5g.112843041G=CA1573470797APCc.7501G= (p.Val2501=)
c.*7453G= (n.*7453G=)
c.7393G= (p.Val2465=)
c.7447G= (p.Val2483=)
c.231-13608G=
c.7477G= (p.Val2493=)
c.7372G= (p.Val2458=)
c.7363G= (p.Val2455=)
c.7324G= (p.Val2442=)
c.7270G= (p.Val2424=)
c.7174G= (p.Val2392=)
c.7144G= (p.Val2382=)
c.7069G= (p.Val2357=)
c.6967G= (p.Val2323=)
c.6598G= (p.Val2200=)
5g.112843041G>TCA16037537APCc.7501G>T (p.Val2501Phe)
c.*7453G>T (n.*7453G>T)
c.7393G>T (p.Val2465Phe)
c.7447G>T (p.Val2483Phe)
c.231-13608G>T
c.7477G>T (p.Val2493Phe)
c.7372G>T (p.Val2458Phe)
c.7363G>T (p.Val2455Phe)
c.7324G>T (p.Val2442Phe)
c.7270G>T (p.Val2424Phe)
c.7174G>T (p.Val2392Phe)
c.7144G>T (p.Val2382Phe)
c.7069G>T (p.Val2357Phe)
c.6967G>T (p.Val2323Phe)
c.6598G>T (p.Val2200Phe)
5g.112843042T>ACA16037538APCc.7502T>A (p.Val2501Asp)
c.*7454T>A (n.*7454T>A)
c.7394T>A (p.Val2465Asp)
c.7448T>A (p.Val2483Asp)
c.231-13607T>A
c.7478T>A (p.Val2493Asp)
c.7373T>A (p.Val2458Asp)
c.7364T>A (p.Val2455Asp)
c.7325T>A (p.Val2442Asp)
c.7271T>A (p.Val2424Asp)
c.7175T>A (p.Val2392Asp)
c.7145T>A (p.Val2382Asp)
c.7070T>A (p.Val2357Asp)
c.6968T>A (p.Val2323Asp)
c.6599T>A (p.Val2200Asp)
 dbSNP
5g.112843042T>CCA16037539APCc.7502T>C (p.Val2501Ala)
c.*7454T>C (n.*7454T>C)
c.7394T>C (p.Val2465Ala)
c.7448T>C (p.Val2483Ala)
c.231-13607T>C
c.7478T>C (p.Val2493Ala)
c.7373T>C (p.Val2458Ala)
c.7364T>C (p.Val2455Ala)
c.7325T>C (p.Val2442Ala)
c.7271T>C (p.Val2424Ala)
c.7175T>C (p.Val2392Ala)
c.7145T>C (p.Val2382Ala)
c.7070T>C (p.Val2357Ala)
c.6968T>C (p.Val2323Ala)
c.6599T>C (p.Val2200Ala)
 ClinVar dbSNP gnomAD v4
5g.112843042T>GCA16037540APCc.7502T>G (p.Val2501Gly)
c.*7454T>G (n.*7454T>G)
c.7394T>G (p.Val2465Gly)
c.7448T>G (p.Val2483Gly)
c.231-13607T>G
c.7478T>G (p.Val2493Gly)
c.7373T>G (p.Val2458Gly)
c.7364T>G (p.Val2455Gly)
c.7325T>G (p.Val2442Gly)
c.7271T>G (p.Val2424Gly)
c.7175T>G (p.Val2392Gly)
c.7145T>G (p.Val2382Gly)
c.7070T>G (p.Val2357Gly)
c.6968T>G (p.Val2323Gly)
c.6599T>G (p.Val2200Gly)
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=)

Number of alleles fetched