Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112843737A=CA1573476416APCc.8197A= (p.Thr2733=)
c.*8149A= (n.*8149A=)
c.8089A= (p.Thr2697=)
c.8143A= (p.Thr2715=)
c.231-12912A=
c.8173A= (p.Thr2725=)
c.8068A= (p.Thr2690=)
c.8059A= (p.Thr2687=)
c.8020A= (p.Thr2674=)
c.7966A= (p.Thr2656=)
c.7870A= (p.Thr2624=)
c.7840A= (p.Thr2614=)
c.7765A= (p.Thr2589=)
c.7663A= (p.Thr2555=)
c.7294A= (p.Thr2432=)
5g.112843737A>CCA16039013APCc.8197A>C (p.Thr2733Pro)
c.*8149A>C (n.*8149A>C)
c.8089A>C (p.Thr2697Pro)
c.8143A>C (p.Thr2715Pro)
c.231-12912A>C
c.8173A>C (p.Thr2725Pro)
c.8068A>C (p.Thr2690Pro)
c.8059A>C (p.Thr2687Pro)
c.8020A>C (p.Thr2674Pro)
c.7966A>C (p.Thr2656Pro)
c.7870A>C (p.Thr2624Pro)
c.7840A>C (p.Thr2614Pro)
c.7765A>C (p.Thr2589Pro)
c.7663A>C (p.Thr2555Pro)
c.7294A>C (p.Thr2432Pro)
 dbSNP gnomAD v4
5g.112843737A>GCA16039014APCc.8197A>G (p.Thr2733Ala)
c.*8149A>G (n.*8149A>G)
c.8089A>G (p.Thr2697Ala)
c.8143A>G (p.Thr2715Ala)
c.231-12912A>G
c.8173A>G (p.Thr2725Ala)
c.8068A>G (p.Thr2690Ala)
c.8059A>G (p.Thr2687Ala)
c.8020A>G (p.Thr2674Ala)
c.7966A>G (p.Thr2656Ala)
c.7870A>G (p.Thr2624Ala)
c.7840A>G (p.Thr2614Ala)
c.7765A>G (p.Thr2589Ala)
c.7663A>G (p.Thr2555Ala)
c.7294A>G (p.Thr2432Ala)
 ClinVar dbSNP
5g.112843737A>TCA16039015APCc.8197A>T (p.Thr2733Ser)
c.*8149A>T (n.*8149A>T)
c.8089A>T (p.Thr2697Ser)
c.8143A>T (p.Thr2715Ser)
c.231-12912A>T
c.8173A>T (p.Thr2725Ser)
c.8068A>T (p.Thr2690Ser)
c.8059A>T (p.Thr2687Ser)
c.8020A>T (p.Thr2674Ser)
c.7966A>T (p.Thr2656Ser)
c.7870A>T (p.Thr2624Ser)
c.7840A>T (p.Thr2614Ser)
c.7765A>T (p.Thr2589Ser)
c.7663A>T (p.Thr2555Ser)
c.7294A>T (p.Thr2432Ser)
5g.112843738C>ACA16039016APCc.8198C>A (p.Thr2733Asn)
c.*8150C>A (n.*8150C>A)
c.8090C>A (p.Thr2697Asn)
c.8144C>A (p.Thr2715Asn)
c.231-12911C>A
c.8174C>A (p.Thr2725Asn)
c.8069C>A (p.Thr2690Asn)
c.8060C>A (p.Thr2687Asn)
c.8021C>A (p.Thr2674Asn)
c.7967C>A (p.Thr2656Asn)
c.7871C>A (p.Thr2624Asn)
c.7841C>A (p.Thr2614Asn)
c.7766C>A (p.Thr2589Asn)
c.7664C>A (p.Thr2555Asn)
c.7295C>A (p.Thr2432Asn)
 dbSNP
5g.112843738C=CA1573476420APCc.8198C= (p.Thr2733=)
c.*8150C= (n.*8150C=)
c.8090C= (p.Thr2697=)
c.8144C= (p.Thr2715=)
c.231-12911C=
c.8174C= (p.Thr2725=)
c.8069C= (p.Thr2690=)
c.8060C= (p.Thr2687=)
c.8021C= (p.Thr2674=)
c.7967C= (p.Thr2656=)
c.7871C= (p.Thr2624=)
c.7841C= (p.Thr2614=)
c.7766C= (p.Thr2589=)
c.7664C= (p.Thr2555=)
c.7295C= (p.Thr2432=)
5g.112843738C>GCA16039017APCc.8198C>G (p.Thr2733Ser)
c.*8150C>G (n.*8150C>G)
c.8090C>G (p.Thr2697Ser)
c.8144C>G (p.Thr2715Ser)
c.231-12911C>G
c.8174C>G (p.Thr2725Ser)
c.8069C>G (p.Thr2690Ser)
c.8060C>G (p.Thr2687Ser)
c.8021C>G (p.Thr2674Ser)
c.7967C>G (p.Thr2656Ser)
c.7871C>G (p.Thr2624Ser)
c.7841C>G (p.Thr2614Ser)
c.7766C>G (p.Thr2589Ser)
c.7664C>G (p.Thr2555Ser)
c.7295C>G (p.Thr2432Ser)
 dbSNP
5g.112843738C>TCA014384APCc.8198C>T (p.Thr2733Ile)
c.*8150C>T (n.*8150C>T)
c.8090C>T (p.Thr2697Ile)
c.8144C>T (p.Thr2715Ile)
c.231-12911C>T
c.8174C>T (p.Thr2725Ile)
c.8069C>T (p.Thr2690Ile)
c.8060C>T (p.Thr2687Ile)
c.8021C>T (p.Thr2674Ile)
c.7967C>T (p.Thr2656Ile)
c.7871C>T (p.Thr2624Ile)
c.7841C>T (p.Thr2614Ile)
c.7766C>T (p.Thr2589Ile)
c.7664C>T (p.Thr2555Ile)
c.7295C>T (p.Thr2432Ile)
 ClinVar dbSNP
5g.112843739C>ACA446211213APCc.8199C>A (p.Thr2733=)
c.*8151C>A (n.*8151C>A)
c.8091C>A (p.Thr2697=)
c.8145C>A (p.Thr2715=)
c.231-12910C>A
c.8175C>A (p.Thr2725=)
c.8070C>A (p.Thr2690=)
c.8061C>A (p.Thr2687=)
c.8022C>A (p.Thr2674=)
c.7968C>A (p.Thr2656=)
c.7872C>A (p.Thr2624=)
c.7842C>A (p.Thr2614=)
c.7767C>A (p.Thr2589=)
c.7665C>A (p.Thr2555=)
c.7296C>A (p.Thr2432=)
 dbSNP
5g.112843739C=CA1573476424APCc.8199C= (p.Thr2733=)
c.*8151C= (n.*8151C=)
c.8091C= (p.Thr2697=)
c.8145C= (p.Thr2715=)
c.231-12910C=
c.8175C= (p.Thr2725=)
c.8070C= (p.Thr2690=)
c.8061C= (p.Thr2687=)
c.8022C= (p.Thr2674=)
c.7968C= (p.Thr2656=)
c.7872C= (p.Thr2624=)
c.7842C= (p.Thr2614=)
c.7767C= (p.Thr2589=)
c.7665C= (p.Thr2555=)
c.7296C= (p.Thr2432=)
5g.112843739C>GCA446211214APCc.8199C>G (p.Thr2733=)
c.*8151C>G (n.*8151C>G)
c.8091C>G (p.Thr2697=)
c.8145C>G (p.Thr2715=)
c.231-12910C>G
c.8175C>G (p.Thr2725=)
c.8070C>G (p.Thr2690=)
c.8061C>G (p.Thr2687=)
c.8022C>G (p.Thr2674=)
c.7968C>G (p.Thr2656=)
c.7872C>G (p.Thr2624=)
c.7842C>G (p.Thr2614=)
c.7767C>G (p.Thr2589=)
c.7665C>G (p.Thr2555=)
c.7296C>G (p.Thr2432=)
 dbSNP
5g.112843739C>TCA446211215APCc.8199C>T (p.Thr2733=)
c.*8151C>T (n.*8151C>T)
c.8091C>T (p.Thr2697=)
c.8145C>T (p.Thr2715=)
c.231-12910C>T
c.8175C>T (p.Thr2725=)
c.8070C>T (p.Thr2690=)
c.8061C>T (p.Thr2687=)
c.8022C>T (p.Thr2674=)
c.7968C>T (p.Thr2656=)
c.7872C>T (p.Thr2624=)
c.7842C>T (p.Thr2614=)
c.7767C>T (p.Thr2589=)
c.7665C>T (p.Thr2555=)
c.7296C>T (p.Thr2432=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.112843740G>ACA014393APCc.8200G>A (p.Val2734Met)
c.*8152G>A (n.*8152G>A)
c.8092G>A (p.Val2698Met)
c.8146G>A (p.Val2716Met)
c.231-12909G>A
c.8176G>A (p.Val2726Met)
c.8071G>A (p.Val2691Met)
c.8062G>A (p.Val2688Met)
c.8023G>A (p.Val2675Met)
c.7969G>A (p.Val2657Met)
c.7873G>A (p.Val2625Met)
c.7843G>A (p.Val2615Met)
c.7768G>A (p.Val2590Met)
c.7666G>A (p.Val2556Met)
c.7297G>A (p.Val2433Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843740G>CCA014405APCc.8200G>C (p.Val2734Leu)
c.*8152G>C (n.*8152G>C)
c.8092G>C (p.Val2698Leu)
c.8146G>C (p.Val2716Leu)
c.231-12909G>C
c.8176G>C (p.Val2726Leu)
c.8071G>C (p.Val2691Leu)
c.8062G>C (p.Val2688Leu)
c.8023G>C (p.Val2675Leu)
c.7969G>C (p.Val2657Leu)
c.7873G>C (p.Val2625Leu)
c.7843G>C (p.Val2615Leu)
c.7768G>C (p.Val2590Leu)
c.7666G>C (p.Val2556Leu)
c.7297G>C (p.Val2433Leu)
 ClinVar dbSNP gnomAD v4
5g.112843740G=CA1573476433APCc.8200G= (p.Val2734=)
c.*8152G= (n.*8152G=)
c.8092G= (p.Val2698=)
c.8146G= (p.Val2716=)
c.231-12909G=
c.8176G= (p.Val2726=)
c.8071G= (p.Val2691=)
c.8062G= (p.Val2688=)
c.8023G= (p.Val2675=)
c.7969G= (p.Val2657=)
c.7873G= (p.Val2625=)
c.7843G= (p.Val2615=)
c.7768G= (p.Val2590=)
c.7666G= (p.Val2556=)
c.7297G= (p.Val2433=)
5g.112843740G>TCA16039018APCc.8200G>T (p.Val2734Leu)
c.*8152G>T (n.*8152G>T)
c.8092G>T (p.Val2698Leu)
c.8146G>T (p.Val2716Leu)
c.231-12909G>T
c.8176G>T (p.Val2726Leu)
c.8071G>T (p.Val2691Leu)
c.8062G>T (p.Val2688Leu)
c.8023G>T (p.Val2675Leu)
c.7969G>T (p.Val2657Leu)
c.7873G>T (p.Val2625Leu)
c.7843G>T (p.Val2615Leu)
c.7768G>T (p.Val2590Leu)
c.7666G>T (p.Val2556Leu)
c.7297G>T (p.Val2433Leu)
 ClinVar dbSNP
5g.112843741T>ACA16039019APCc.8201T>A (p.Val2734Glu)
c.*8153T>A (n.*8153T>A)
c.8093T>A (p.Val2698Glu)
c.8147T>A (p.Val2716Glu)
c.231-12908T>A
c.8177T>A (p.Val2726Glu)
c.8072T>A (p.Val2691Glu)
c.8063T>A (p.Val2688Glu)
c.8024T>A (p.Val2675Glu)
c.7970T>A (p.Val2657Glu)
c.7874T>A (p.Val2625Glu)
c.7844T>A (p.Val2615Glu)
c.7769T>A (p.Val2590Glu)
c.7667T>A (p.Val2556Glu)
c.7298T>A (p.Val2433Glu)
 ClinVar dbSNP gnomAD v4
5g.112843741T>CCA16039020APCc.8201T>C (p.Val2734Ala)
c.*8153T>C (n.*8153T>C)
c.8093T>C (p.Val2698Ala)
c.8147T>C (p.Val2716Ala)
c.231-12908T>C
c.8177T>C (p.Val2726Ala)
c.8072T>C (p.Val2691Ala)
c.8063T>C (p.Val2688Ala)
c.8024T>C (p.Val2675Ala)
c.7970T>C (p.Val2657Ala)
c.7874T>C (p.Val2625Ala)
c.7844T>C (p.Val2615Ala)
c.7769T>C (p.Val2590Ala)
c.7667T>C (p.Val2556Ala)
c.7298T>C (p.Val2433Ala)
5g.112843741T>GCA16039021APCc.8201T>G (p.Val2734Gly)
c.*8153T>G (n.*8153T>G)
c.8093T>G (p.Val2698Gly)
c.8147T>G (p.Val2716Gly)
c.231-12908T>G
c.8177T>G (p.Val2726Gly)
c.8072T>G (p.Val2691Gly)
c.8063T>G (p.Val2688Gly)
c.8024T>G (p.Val2675Gly)
c.7970T>G (p.Val2657Gly)
c.7874T>G (p.Val2625Gly)
c.7844T>G (p.Val2615Gly)
c.7769T>G (p.Val2590Gly)
c.7667T>G (p.Val2556Gly)
c.7298T>G (p.Val2433Gly)
 dbSNP
5g.112843741T=CA1573476445APCc.8201T= (p.Val2734=)
c.*8153T= (n.*8153T=)
c.8093T= (p.Val2698=)
c.8147T= (p.Val2716=)
c.231-12908T=
c.8177T= (p.Val2726=)
c.8072T= (p.Val2691=)
c.8063T= (p.Val2688=)
c.8024T= (p.Val2675=)
c.7970T= (p.Val2657=)
c.7874T= (p.Val2625=)
c.7844T= (p.Val2615=)
c.7769T= (p.Val2590=)
c.7667T= (p.Val2556=)
c.7298T= (p.Val2433=)
5g.112843742G>ACA446211222APCc.8202G>A (p.Val2734=)
c.*8154G>A (n.*8154G>A)
c.8094G>A (p.Val2698=)
c.8148G>A (p.Val2716=)
c.231-12907G>A
c.8178G>A (p.Val2726=)
c.8073G>A (p.Val2691=)
c.8064G>A (p.Val2688=)
c.8025G>A (p.Val2675=)
c.7971G>A (p.Val2657=)
c.7875G>A (p.Val2625=)
c.7845G>A (p.Val2615=)
c.7770G>A (p.Val2590=)
c.7668G>A (p.Val2556=)
c.7299G>A (p.Val2433=)
 ClinVar dbSNP gnomAD v4
5g.112843742G>CCA446211220APCc.8202G>C (p.Val2734=)
c.*8154G>C (n.*8154G>C)
c.8094G>C (p.Val2698=)
c.8148G>C (p.Val2716=)
c.231-12907G>C
c.8178G>C (p.Val2726=)
c.8073G>C (p.Val2691=)
c.8064G>C (p.Val2688=)
c.8025G>C (p.Val2675=)
c.7971G>C (p.Val2657=)
c.7875G>C (p.Val2625=)
c.7845G>C (p.Val2615=)
c.7770G>C (p.Val2590=)
c.7668G>C (p.Val2556=)
c.7299G>C (p.Val2433=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843742G=CA1573476452APCc.8202G= (p.Val2734=)
c.*8154G= (n.*8154G=)
c.8094G= (p.Val2698=)
c.8148G= (p.Val2716=)
c.231-12907G=
c.8178G= (p.Val2726=)
c.8073G= (p.Val2691=)
c.8064G= (p.Val2688=)
c.8025G= (p.Val2675=)
c.7971G= (p.Val2657=)
c.7875G= (p.Val2625=)
c.7845G= (p.Val2615=)
c.7770G= (p.Val2590=)
c.7668G= (p.Val2556=)
c.7299G= (p.Val2433=)
5g.112843742G>TCA446211219APCc.8202G>T (p.Val2734=)
c.*8154G>T (n.*8154G>T)
c.8094G>T (p.Val2698=)
c.8148G>T (p.Val2716=)
c.231-12907G>T
c.8178G>T (p.Val2726=)
c.8073G>T (p.Val2691=)
c.8064G>T (p.Val2688=)
c.8025G>T (p.Val2675=)
c.7971G>T (p.Val2657=)
c.7875G>T (p.Val2625=)
c.7845G>T (p.Val2615=)
c.7770G>T (p.Val2590=)
c.7668G>T (p.Val2556=)
c.7299G>T (p.Val2433=)
5g.112843743G>ACA16039022APCc.8203G>A (p.Gly2735Ser)
c.*8155G>A (n.*8155G>A)
c.8095G>A (p.Gly2699Ser)
c.8149G>A (p.Gly2717Ser)
c.231-12906G>A
c.8179G>A (p.Gly2727Ser)
c.8074G>A (p.Gly2692Ser)
c.8065G>A (p.Gly2689Ser)
c.8026G>A (p.Gly2676Ser)
c.7972G>A (p.Gly2658Ser)
c.7876G>A (p.Gly2626Ser)
c.7846G>A (p.Gly2616Ser)
c.7771G>A (p.Gly2591Ser)
c.7669G>A (p.Gly2557Ser)
c.7300G>A (p.Gly2434Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.112843743G>CCA16039023APCc.8203G>C (p.Gly2735Arg)
c.*8155G>C (n.*8155G>C)
c.8095G>C (p.Gly2699Arg)
c.8149G>C (p.Gly2717Arg)
c.231-12906G>C
c.8179G>C (p.Gly2727Arg)
c.8074G>C (p.Gly2692Arg)
c.8065G>C (p.Gly2689Arg)
c.8026G>C (p.Gly2676Arg)
c.7972G>C (p.Gly2658Arg)
c.7876G>C (p.Gly2626Arg)
c.7846G>C (p.Gly2616Arg)
c.7771G>C (p.Gly2591Arg)
c.7669G>C (p.Gly2557Arg)
c.7300G>C (p.Gly2434Arg)
 dbSNP
5g.112843743G=CA1573476460APCc.8203G= (p.Gly2735=)
c.*8155G= (n.*8155G=)
c.8095G= (p.Gly2699=)
c.8149G= (p.Gly2717=)
c.231-12906G=
c.8179G= (p.Gly2727=)
c.8074G= (p.Gly2692=)
c.8065G= (p.Gly2689=)
c.8026G= (p.Gly2676=)
c.7972G= (p.Gly2658=)
c.7876G= (p.Gly2626=)
c.7846G= (p.Gly2616=)
c.7771G= (p.Gly2591=)
c.7669G= (p.Gly2557=)
c.7300G= (p.Gly2434=)
5g.112843743G>TCA049997APCc.8203G>T (p.Gly2735Cys)
c.*8155G>T (n.*8155G>T)
c.8095G>T (p.Gly2699Cys)
c.8149G>T (p.Gly2717Cys)
c.231-12906G>T
c.8179G>T (p.Gly2727Cys)
c.8074G>T (p.Gly2692Cys)
c.8065G>T (p.Gly2689Cys)
c.8026G>T (p.Gly2676Cys)
c.7972G>T (p.Gly2658Cys)
c.7876G>T (p.Gly2626Cys)
c.7846G>T (p.Gly2616Cys)
c.7771G>T (p.Gly2591Cys)
c.7669G>T (p.Gly2557Cys)
c.7300G>T (p.Gly2434Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843744G>ACA10578458APCc.8204G>A (p.Gly2735Asp)
c.*8156G>A (n.*8156G>A)
c.8096G>A (p.Gly2699Asp)
c.8150G>A (p.Gly2717Asp)
c.231-12905G>A
c.8180G>A (p.Gly2727Asp)
c.8075G>A (p.Gly2692Asp)
c.8066G>A (p.Gly2689Asp)
c.8027G>A (p.Gly2676Asp)
c.7973G>A (p.Gly2658Asp)
c.7877G>A (p.Gly2626Asp)
c.7847G>A (p.Gly2616Asp)
c.7772G>A (p.Gly2591Asp)
c.7670G>A (p.Gly2557Asp)
c.7301G>A (p.Gly2434Asp)
 ClinVar dbSNP gnomAD v4
5g.112843744G>CCA16039024APCc.8204G>C (p.Gly2735Ala)
c.*8156G>C (n.*8156G>C)
c.8096G>C (p.Gly2699Ala)
c.8150G>C (p.Gly2717Ala)
c.231-12905G>C
c.8180G>C (p.Gly2727Ala)
c.8075G>C (p.Gly2692Ala)
c.8066G>C (p.Gly2689Ala)
c.8027G>C (p.Gly2676Ala)
c.7973G>C (p.Gly2658Ala)
c.7877G>C (p.Gly2626Ala)
c.7847G>C (p.Gly2616Ala)
c.7772G>C (p.Gly2591Ala)
c.7670G>C (p.Gly2557Ala)
c.7301G>C (p.Gly2434Ala)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112843744G=CA1573476469APCc.8204G= (p.Gly2735=)
c.*8156G= (n.*8156G=)
c.8096G= (p.Gly2699=)
c.8150G= (p.Gly2717=)
c.231-12905G=
c.8180G= (p.Gly2727=)
c.8075G= (p.Gly2692=)
c.8066G= (p.Gly2689=)
c.8027G= (p.Gly2676=)
c.7973G= (p.Gly2658=)
c.7877G= (p.Gly2626=)
c.7847G= (p.Gly2616=)
c.7772G= (p.Gly2591=)
c.7670G= (p.Gly2557=)
c.7301G= (p.Gly2434=)
5g.112843744G>TCA16039025APCc.8204G>T (p.Gly2735Val)
c.*8156G>T (n.*8156G>T)
c.8096G>T (p.Gly2699Val)
c.8150G>T (p.Gly2717Val)
c.231-12905G>T
c.8180G>T (p.Gly2727Val)
c.8075G>T (p.Gly2692Val)
c.8066G>T (p.Gly2689Val)
c.8027G>T (p.Gly2676Val)
c.7973G>T (p.Gly2658Val)
c.7877G>T (p.Gly2626Val)
c.7847G>T (p.Gly2616Val)
c.7772G>T (p.Gly2591Val)
c.7670G>T (p.Gly2557Val)
c.7301G>T (p.Gly2434Val)
5g.112843745T>ACA446211226APCc.8205T>A (p.Gly2735=)
c.*8157T>A (n.*8157T>A)
c.8097T>A (p.Gly2699=)
c.8151T>A (p.Gly2717=)
c.231-12904T>A
c.8181T>A (p.Gly2727=)
c.8076T>A (p.Gly2692=)
c.8067T>A (p.Gly2689=)
c.8028T>A (p.Gly2676=)
c.7974T>A (p.Gly2658=)
c.7878T>A (p.Gly2626=)
c.7848T>A (p.Gly2616=)
c.7773T>A (p.Gly2591=)
c.7671T>A (p.Gly2557=)
c.7302T>A (p.Gly2434=)
 dbSNP
5g.112843745T>CCA446211227APCc.8205T>C (p.Gly2735=)
c.*8157T>C (n.*8157T>C)
c.8097T>C (p.Gly2699=)
c.8151T>C (p.Gly2717=)
c.231-12904T>C
c.8181T>C (p.Gly2727=)
c.8076T>C (p.Gly2692=)
c.8067T>C (p.Gly2689=)
c.8028T>C (p.Gly2676=)
c.7974T>C (p.Gly2658=)
c.7878T>C (p.Gly2626=)
c.7848T>C (p.Gly2616=)
c.7773T>C (p.Gly2591=)
c.7671T>C (p.Gly2557=)
c.7302T>C (p.Gly2434=)
 ClinVar dbSNP
5g.112843745T>GCA446211228APCc.8205T>G (p.Gly2735=)
c.*8157T>G (n.*8157T>G)
c.8097T>G (p.Gly2699=)
c.8151T>G (p.Gly2717=)
c.231-12904T>G
c.8181T>G (p.Gly2727=)
c.8076T>G (p.Gly2692=)
c.8067T>G (p.Gly2689=)
c.8028T>G (p.Gly2676=)
c.7974T>G (p.Gly2658=)
c.7878T>G (p.Gly2626=)
c.7848T>G (p.Gly2616=)
c.7773T>G (p.Gly2591=)
c.7671T>G (p.Gly2557=)
c.7302T>G (p.Gly2434=)
 dbSNP
5g.112843747delCA2582341606APCc.8207del (p.Leu2736TrpfsTer5)
c.*8159del (n.*8159del)
c.8099del (p.Leu2700TrpfsTer5)
c.8153del (p.Leu2718TrpfsTer5)
c.231-12902del
c.8183del (p.Leu2728TrpfsTer5)
c.8078del (p.Leu2693TrpfsTer5)
c.8069del (p.Leu2690TrpfsTer5)
c.8030del (p.Leu2677TrpfsTer5)
c.7976del (p.Leu2659TrpfsTer5)
c.7880del (p.Leu2627TrpfsTer5)
c.7850del (p.Leu2617TrpfsTer5)
c.7775del (p.Leu2592TrpfsTer5)
c.7673del (p.Leu2558TrpfsTer5)
c.7304del (p.Leu2435TrpfsTer5)
 ClinVar
5g.112843746_112843747delCA2825001388APCc.8206_8207del (p.Leu2736GlyfsTer14)
c.*8158_*8159del (n.*8158_*8159del)
c.8098_8099del (p.Leu2700GlyfsTer14)
c.8152_8153del (p.Leu2718GlyfsTer14)
c.231-12903_231-12902del
c.8182_8183del (p.Leu2728GlyfsTer14)
c.8077_8078del (p.Leu2693GlyfsTer14)
c.8068_8069del (p.Leu2690GlyfsTer14)
c.8029_8030del (p.Leu2677GlyfsTer14)
c.7975_7976del (p.Leu2659GlyfsTer14)
c.7879_7880del (p.Leu2627GlyfsTer14)
c.7849_7850del (p.Leu2617GlyfsTer14)
c.7774_7775del (p.Leu2592GlyfsTer14)
c.7672_7673del (p.Leu2558GlyfsTer14)
c.7303_7304del (p.Leu2435GlyfsTer14)
 ClinVar
5g.112843746T>ACA16039026APCc.8206T>A (p.Leu2736Met)
c.*8158T>A (n.*8158T>A)
c.8098T>A (p.Leu2700Met)
c.8152T>A (p.Leu2718Met)
c.231-12903T>A
c.8182T>A (p.Leu2728Met)
c.8077T>A (p.Leu2693Met)
c.8068T>A (p.Leu2690Met)
c.8029T>A (p.Leu2677Met)
c.7975T>A (p.Leu2659Met)
c.7879T>A (p.Leu2627Met)
c.7849T>A (p.Leu2617Met)
c.7774T>A (p.Leu2592Met)
c.7672T>A (p.Leu2558Met)
c.7303T>A (p.Leu2435Met)
 dbSNP
5g.112843746T>CCA446211231APCc.8206T>C (p.Leu2736=)
c.*8158T>C (n.*8158T>C)
c.8098T>C (p.Leu2700=)
c.8152T>C (p.Leu2718=)
c.231-12903T>C
c.8182T>C (p.Leu2728=)
c.8077T>C (p.Leu2693=)
c.8068T>C (p.Leu2690=)
c.8029T>C (p.Leu2677=)
c.7975T>C (p.Leu2659=)
c.7879T>C (p.Leu2627=)
c.7849T>C (p.Leu2617=)
c.7774T>C (p.Leu2592=)
c.7672T>C (p.Leu2558=)
c.7303T>C (p.Leu2435=)
 dbSNP
5g.112843746T>GCA16039027APCc.8206T>G (p.Leu2736Val)
c.*8158T>G (n.*8158T>G)
c.8098T>G (p.Leu2700Val)
c.8152T>G (p.Leu2718Val)
c.231-12903T>G
c.8182T>G (p.Leu2728Val)
c.8077T>G (p.Leu2693Val)
c.8068T>G (p.Leu2690Val)
c.8029T>G (p.Leu2677Val)
c.7975T>G (p.Leu2659Val)
c.7879T>G (p.Leu2627Val)
c.7849T>G (p.Leu2617Val)
c.7774T>G (p.Leu2592Val)
c.7672T>G (p.Leu2558Val)
c.7303T>G (p.Leu2435Val)
 ClinVar dbSNP
5g.112843747T>ACA16039028APCc.8207T>A (p.Leu2736Ter)
c.*8159T>A (n.*8159T>A)
c.8099T>A (p.Leu2700Ter)
c.8153T>A (p.Leu2718Ter)
c.231-12902T>A
c.8183T>A (p.Leu2728Ter)
c.8078T>A (p.Leu2693Ter)
c.8069T>A (p.Leu2690Ter)
c.8030T>A (p.Leu2677Ter)
c.7976T>A (p.Leu2659Ter)
c.7880T>A (p.Leu2627Ter)
c.7850T>A (p.Leu2617Ter)
c.7775T>A (p.Leu2592Ter)
c.7673T>A (p.Leu2558Ter)
c.7304T>A (p.Leu2435Ter)
5g.112843747T>CCA16039029APCc.8207T>C (p.Leu2736Ser)
c.*8159T>C (n.*8159T>C)
c.8099T>C (p.Leu2700Ser)
c.8153T>C (p.Leu2718Ser)
c.231-12902T>C
c.8183T>C (p.Leu2728Ser)
c.8078T>C (p.Leu2693Ser)
c.8069T>C (p.Leu2690Ser)
c.8030T>C (p.Leu2677Ser)
c.7976T>C (p.Leu2659Ser)
c.7880T>C (p.Leu2627Ser)
c.7850T>C (p.Leu2617Ser)
c.7775T>C (p.Leu2592Ser)
c.7673T>C (p.Leu2558Ser)
c.7304T>C (p.Leu2435Ser)
5g.112843747T>GCA16039030APCc.8207T>G (p.Leu2736Trp)
c.*8159T>G (n.*8159T>G)
c.8099T>G (p.Leu2700Trp)
c.8153T>G (p.Leu2718Trp)
c.231-12902T>G
c.8183T>G (p.Leu2728Trp)
c.8078T>G (p.Leu2693Trp)
c.8069T>G (p.Leu2690Trp)
c.8030T>G (p.Leu2677Trp)
c.7976T>G (p.Leu2659Trp)
c.7880T>G (p.Leu2627Trp)
c.7850T>G (p.Leu2617Trp)
c.7775T>G (p.Leu2592Trp)
c.7673T>G (p.Leu2558Trp)
c.7304T>G (p.Leu2435Trp)
5g.112843748G>ACA446211235APCc.8208G>A (p.Leu2736=)
c.*8160G>A (n.*8160G>A)
c.8100G>A (p.Leu2700=)
c.8154G>A (p.Leu2718=)
c.231-12901G>A
c.8184G>A (p.Leu2728=)
c.8079G>A (p.Leu2693=)
c.8070G>A (p.Leu2690=)
c.8031G>A (p.Leu2677=)
c.7977G>A (p.Leu2659=)
c.7881G>A (p.Leu2627=)
c.7851G>A (p.Leu2617=)
c.7776G>A (p.Leu2592=)
c.7674G>A (p.Leu2558=)
c.7305G>A (p.Leu2435=)
5g.112843748G>CCA16039031APCc.8208G>C (p.Leu2736Phe)
c.*8160G>C (n.*8160G>C)
c.8100G>C (p.Leu2700Phe)
c.8154G>C (p.Leu2718Phe)
c.231-12901G>C
c.8184G>C (p.Leu2728Phe)
c.8079G>C (p.Leu2693Phe)
c.8070G>C (p.Leu2690Phe)
c.8031G>C (p.Leu2677Phe)
c.7977G>C (p.Leu2659Phe)
c.7881G>C (p.Leu2627Phe)
c.7851G>C (p.Leu2617Phe)
c.7776G>C (p.Leu2592Phe)
c.7674G>C (p.Leu2558Phe)
c.7305G>C (p.Leu2435Phe)
5g.112843748G=CA1573476479APCc.8208G= (p.Leu2736=)
c.*8160G= (n.*8160G=)
c.8100G= (p.Leu2700=)
c.8154G= (p.Leu2718=)
c.231-12901G=
c.8184G= (p.Leu2728=)
c.8079G= (p.Leu2693=)
c.8070G= (p.Leu2690=)
c.8031G= (p.Leu2677=)
c.7977G= (p.Leu2659=)
c.7881G= (p.Leu2627=)
c.7851G= (p.Leu2617=)
c.7776G= (p.Leu2592=)
c.7674G= (p.Leu2558=)
c.7305G= (p.Leu2435=)
5g.112843748G>TCA16039032APCc.8208G>T (p.Leu2736Phe)
c.*8160G>T (n.*8160G>T)
c.8100G>T (p.Leu2700Phe)
c.8154G>T (p.Leu2718Phe)
c.231-12901G>T
c.8184G>T (p.Leu2728Phe)
c.8079G>T (p.Leu2693Phe)
c.8070G>T (p.Leu2690Phe)
c.8031G>T (p.Leu2677Phe)
c.7977G>T (p.Leu2659Phe)
c.7881G>T (p.Leu2627Phe)
c.7851G>T (p.Leu2617Phe)
c.7776G>T (p.Leu2592Phe)
c.7674G>T (p.Leu2558Phe)
c.7305G>T (p.Leu2435Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843749G>ACA16039033APCc.8209G>A (p.Glu2737Lys)
c.*8161G>A (n.*8161G>A)
c.8101G>A (p.Glu2701Lys)
c.8155G>A (p.Glu2719Lys)
c.231-12900G>A
c.8185G>A (p.Glu2729Lys)
c.8080G>A (p.Glu2694Lys)
c.8071G>A (p.Glu2691Lys)
c.8032G>A (p.Glu2678Lys)
c.7978G>A (p.Glu2660Lys)
c.7882G>A (p.Glu2628Lys)
c.7852G>A (p.Glu2618Lys)
c.7777G>A (p.Glu2593Lys)
c.7675G>A (p.Glu2559Lys)
c.7306G>A (p.Glu2436Lys)
5g.112843749G>CCA16039034APCc.8209G>C (p.Glu2737Gln)
c.*8161G>C (n.*8161G>C)
c.8101G>C (p.Glu2701Gln)
c.8155G>C (p.Glu2719Gln)
c.231-12900G>C
c.8185G>C (p.Glu2729Gln)
c.8080G>C (p.Glu2694Gln)
c.8071G>C (p.Glu2691Gln)
c.8032G>C (p.Glu2678Gln)
c.7978G>C (p.Glu2660Gln)
c.7882G>C (p.Glu2628Gln)
c.7852G>C (p.Glu2618Gln)
c.7777G>C (p.Glu2593Gln)
c.7675G>C (p.Glu2559Gln)
c.7306G>C (p.Glu2436Gln)
5g.112843749G>TCA16039035APCc.8209G>T (p.Glu2737Ter)
c.*8161G>T (n.*8161G>T)
c.8101G>T (p.Glu2701Ter)
c.8155G>T (p.Glu2719Ter)
c.231-12900G>T
c.8185G>T (p.Glu2729Ter)
c.8080G>T (p.Glu2694Ter)
c.8071G>T (p.Glu2691Ter)
c.8032G>T (p.Glu2678Ter)
c.7978G>T (p.Glu2660Ter)
c.7882G>T (p.Glu2628Ter)
c.7852G>T (p.Glu2618Ter)
c.7777G>T (p.Glu2593Ter)
c.7675G>T (p.Glu2559Ter)
c.7306G>T (p.Glu2436Ter)
 ClinVar
5g.112843750A=CA1573476500APCc.8210A= (p.Glu2737=)
c.*8162A= (n.*8162A=)
c.8102A= (p.Glu2701=)
c.8156A= (p.Glu2719=)
c.231-12899A=
c.8186A= (p.Glu2729=)
c.8081A= (p.Glu2694=)
c.8072A= (p.Glu2691=)
c.8033A= (p.Glu2678=)
c.7979A= (p.Glu2660=)
c.7883A= (p.Glu2628=)
c.7853A= (p.Glu2618=)
c.7778A= (p.Glu2593=)
c.7676A= (p.Glu2559=)
c.7307A= (p.Glu2436=)
5g.112843750A>CCA16039036APCc.8210A>C (p.Glu2737Ala)
c.*8162A>C (n.*8162A>C)
c.8102A>C (p.Glu2701Ala)
c.8156A>C (p.Glu2719Ala)
c.231-12899A>C
c.8186A>C (p.Glu2729Ala)
c.8081A>C (p.Glu2694Ala)
c.8072A>C (p.Glu2691Ala)
c.8033A>C (p.Glu2678Ala)
c.7979A>C (p.Glu2660Ala)
c.7883A>C (p.Glu2628Ala)
c.7853A>C (p.Glu2618Ala)
c.7778A>C (p.Glu2593Ala)
c.7676A>C (p.Glu2559Ala)
c.7307A>C (p.Glu2436Ala)
 ClinVar dbSNP
5g.112843750A>GCA16039037APCc.8210A>G (p.Glu2737Gly)
c.*8162A>G (n.*8162A>G)
c.8102A>G (p.Glu2701Gly)
c.8156A>G (p.Glu2719Gly)
c.231-12899A>G
c.8186A>G (p.Glu2729Gly)
c.8081A>G (p.Glu2694Gly)
c.8072A>G (p.Glu2691Gly)
c.8033A>G (p.Glu2678Gly)
c.7979A>G (p.Glu2660Gly)
c.7883A>G (p.Glu2628Gly)
c.7853A>G (p.Glu2618Gly)
c.7778A>G (p.Glu2593Gly)
c.7676A>G (p.Glu2559Gly)
c.7307A>G (p.Glu2436Gly)
 dbSNP
5g.112843750A>TCA16039038APCc.8210A>T (p.Glu2737Val)
c.*8162A>T (n.*8162A>T)
c.8102A>T (p.Glu2701Val)
c.8156A>T (p.Glu2719Val)
c.231-12899A>T
c.8186A>T (p.Glu2729Val)
c.8081A>T (p.Glu2694Val)
c.8072A>T (p.Glu2691Val)
c.8033A>T (p.Glu2678Val)
c.7979A>T (p.Glu2660Val)
c.7883A>T (p.Glu2628Val)
c.7853A>T (p.Glu2618Val)
c.7778A>T (p.Glu2593Val)
c.7676A>T (p.Glu2559Val)
c.7307A>T (p.Glu2436Val)
 dbSNP
5g.112843751A>CCA16039039APCc.8211A>C (p.Glu2737Asp)
c.*8163A>C (n.*8163A>C)
c.8103A>C (p.Glu2701Asp)
c.8157A>C (p.Glu2719Asp)
c.231-12898A>C
c.8187A>C (p.Glu2729Asp)
c.8082A>C (p.Glu2694Asp)
c.8073A>C (p.Glu2691Asp)
c.8034A>C (p.Glu2678Asp)
c.7980A>C (p.Glu2660Asp)
c.7884A>C (p.Glu2628Asp)
c.7854A>C (p.Glu2618Asp)
c.7779A>C (p.Glu2593Asp)
c.7677A>C (p.Glu2559Asp)
c.7308A>C (p.Glu2436Asp)
5g.112843751A>GCA446211239APCc.8211A>G (p.Glu2737=)
c.*8163A>G (n.*8163A>G)
c.8103A>G (p.Glu2701=)
c.8157A>G (p.Glu2719=)
c.231-12898A>G
c.8187A>G (p.Glu2729=)
c.8082A>G (p.Glu2694=)
c.8073A>G (p.Glu2691=)
c.8034A>G (p.Glu2678=)
c.7980A>G (p.Glu2660=)
c.7884A>G (p.Glu2628=)
c.7854A>G (p.Glu2618=)
c.7779A>G (p.Glu2593=)
c.7677A>G (p.Glu2559=)
c.7308A>G (p.Glu2436=)
 dbSNP gnomAD v4
5g.112843751A>TCA16039040APCc.8211A>T (p.Glu2737Asp)
c.*8163A>T (n.*8163A>T)
c.8103A>T (p.Glu2701Asp)
c.8157A>T (p.Glu2719Asp)
c.231-12898A>T
c.8187A>T (p.Glu2729Asp)
c.8082A>T (p.Glu2694Asp)
c.8073A>T (p.Glu2691Asp)
c.8034A>T (p.Glu2678Asp)
c.7980A>T (p.Glu2660Asp)
c.7884A>T (p.Glu2628Asp)
c.7854A>T (p.Glu2618Asp)
c.7779A>T (p.Glu2593Asp)
c.7677A>T (p.Glu2559Asp)
c.7308A>T (p.Glu2436Asp)
5g.112843752A=CA1573476511APCc.8212A= (p.Asn2738=)
c.*8164A= (n.*8164A=)
c.8104A= (p.Asn2702=)
c.8158A= (p.Asn2720=)
c.231-12897A=
c.8188A= (p.Asn2730=)
c.8083A= (p.Asn2695=)
c.8074A= (p.Asn2692=)
c.8035A= (p.Asn2679=)
c.7981A= (p.Asn2661=)
c.7885A= (p.Asn2629=)
c.7855A= (p.Asn2619=)
c.7780A= (p.Asn2594=)
c.7678A= (p.Asn2560=)
c.7309A= (p.Asn2437=)
5g.112843752A>CCA16039041APCc.8212A>C (p.Asn2738His)
c.*8164A>C (n.*8164A>C)
c.8104A>C (p.Asn2702His)
c.8158A>C (p.Asn2720His)
c.231-12897A>C
c.8188A>C (p.Asn2730His)
c.8083A>C (p.Asn2695His)
c.8074A>C (p.Asn2692His)
c.8035A>C (p.Asn2679His)
c.7981A>C (p.Asn2661His)
c.7885A>C (p.Asn2629His)
c.7855A>C (p.Asn2619His)
c.7780A>C (p.Asn2594His)
c.7678A>C (p.Asn2560His)
c.7309A>C (p.Asn2437His)
 dbSNP
5g.112843752A>GCA16039042APCc.8212A>G (p.Asn2738Asp)
c.*8164A>G (n.*8164A>G)
c.8104A>G (p.Asn2702Asp)
c.8158A>G (p.Asn2720Asp)
c.231-12897A>G
c.8188A>G (p.Asn2730Asp)
c.8083A>G (p.Asn2695Asp)
c.8074A>G (p.Asn2692Asp)
c.8035A>G (p.Asn2679Asp)
c.7981A>G (p.Asn2661Asp)
c.7885A>G (p.Asn2629Asp)
c.7855A>G (p.Asn2619Asp)
c.7780A>G (p.Asn2594Asp)
c.7678A>G (p.Asn2560Asp)
c.7309A>G (p.Asn2437Asp)
 ClinVar dbSNP
5g.112843752A>TCA16039043APCc.8212A>T (p.Asn2738Tyr)
c.*8164A>T (n.*8164A>T)
c.8104A>T (p.Asn2702Tyr)
c.8158A>T (p.Asn2720Tyr)
c.231-12897A>T
c.8188A>T (p.Asn2730Tyr)
c.8083A>T (p.Asn2695Tyr)
c.8074A>T (p.Asn2692Tyr)
c.8035A>T (p.Asn2679Tyr)
c.7981A>T (p.Asn2661Tyr)
c.7885A>T (p.Asn2629Tyr)
c.7855A>T (p.Asn2619Tyr)
c.7780A>T (p.Asn2594Tyr)
c.7678A>T (p.Asn2560Tyr)
c.7309A>T (p.Asn2437Tyr)
 dbSNP
5g.112843753A>CCA16039044APCc.8213A>C (p.Asn2738Thr)
c.*8165A>C (n.*8165A>C)
c.8105A>C (p.Asn2702Thr)
c.8159A>C (p.Asn2720Thr)
c.231-12896A>C
c.8189A>C (p.Asn2730Thr)
c.8084A>C (p.Asn2695Thr)
c.8075A>C (p.Asn2692Thr)
c.8036A>C (p.Asn2679Thr)
c.7982A>C (p.Asn2661Thr)
c.7886A>C (p.Asn2629Thr)
c.7856A>C (p.Asn2619Thr)
c.7781A>C (p.Asn2594Thr)
c.7679A>C (p.Asn2560Thr)
c.7310A>C (p.Asn2437Thr)
 dbSNP
5g.112843753A>GCA16039045APCc.8213A>G (p.Asn2738Ser)
c.*8165A>G (n.*8165A>G)
c.8105A>G (p.Asn2702Ser)
c.8159A>G (p.Asn2720Ser)
c.231-12896A>G
c.8189A>G (p.Asn2730Ser)
c.8084A>G (p.Asn2695Ser)
c.8075A>G (p.Asn2692Ser)
c.8036A>G (p.Asn2679Ser)
c.7982A>G (p.Asn2661Ser)
c.7886A>G (p.Asn2629Ser)
c.7856A>G (p.Asn2619Ser)
c.7781A>G (p.Asn2594Ser)
c.7679A>G (p.Asn2560Ser)
c.7310A>G (p.Asn2437Ser)
 dbSNP
5g.112843753A>TCA16039046APCc.8213A>T (p.Asn2738Ile)
c.*8165A>T (n.*8165A>T)
c.8105A>T (p.Asn2702Ile)
c.8159A>T (p.Asn2720Ile)
c.231-12896A>T
c.8189A>T (p.Asn2730Ile)
c.8084A>T (p.Asn2695Ile)
c.8075A>T (p.Asn2692Ile)
c.8036A>T (p.Asn2679Ile)
c.7982A>T (p.Asn2661Ile)
c.7886A>T (p.Asn2629Ile)
c.7856A>T (p.Asn2619Ile)
c.7781A>T (p.Asn2594Ile)
c.7679A>T (p.Asn2560Ile)
c.7310A>T (p.Asn2437Ile)
 dbSNP
5g.112843754T>ACA16039047APCc.8214T>A (p.Asn2738Lys)
c.*8166T>A (n.*8166T>A)
c.8106T>A (p.Asn2702Lys)
c.8160T>A (p.Asn2720Lys)
c.231-12895T>A
c.8190T>A (p.Asn2730Lys)
c.8085T>A (p.Asn2695Lys)
c.8076T>A (p.Asn2692Lys)
c.8037T>A (p.Asn2679Lys)
c.7983T>A (p.Asn2661Lys)
c.7887T>A (p.Asn2629Lys)
c.7857T>A (p.Asn2619Lys)
c.7782T>A (p.Asn2594Lys)
c.7680T>A (p.Asn2560Lys)
c.7311T>A (p.Asn2437Lys)
 dbSNP
5g.112843754T>CCA446211244APCc.8214T>C (p.Asn2738=)
c.*8166T>C (n.*8166T>C)
c.8106T>C (p.Asn2702=)
c.8160T>C (p.Asn2720=)
c.231-12895T>C
c.8190T>C (p.Asn2730=)
c.8085T>C (p.Asn2695=)
c.8076T>C (p.Asn2692=)
c.8037T>C (p.Asn2679=)
c.7983T>C (p.Asn2661=)
c.7887T>C (p.Asn2629=)
c.7857T>C (p.Asn2619=)
c.7782T>C (p.Asn2594=)
c.7680T>C (p.Asn2560=)
c.7311T>C (p.Asn2437=)
5g.112843754T>GCA16039048APCc.8214T>G (p.Asn2738Lys)
c.*8166T>G (n.*8166T>G)
c.8106T>G (p.Asn2702Lys)
c.8160T>G (p.Asn2720Lys)
c.231-12895T>G
c.8190T>G (p.Asn2730Lys)
c.8085T>G (p.Asn2695Lys)
c.8076T>G (p.Asn2692Lys)
c.8037T>G (p.Asn2679Lys)
c.7983T>G (p.Asn2661Lys)
c.7887T>G (p.Asn2629Lys)
c.7857T>G (p.Asn2619Lys)
c.7782T>G (p.Asn2594Lys)
c.7680T>G (p.Asn2560Lys)
c.7311T>G (p.Asn2437Lys)
 dbSNP COSMIC
5g.112843755C>ACA16039049APCc.8215C>A (p.Arg2739Ser)
c.*8167C>A (n.*8167C>A)
c.8107C>A (p.Arg2703Ser)
c.8161C>A (p.Arg2721Ser)
c.231-12894C>A
c.8191C>A (p.Arg2731Ser)
c.8086C>A (p.Arg2696Ser)
c.8077C>A (p.Arg2693Ser)
c.8038C>A (p.Arg2680Ser)
c.7984C>A (p.Arg2662Ser)
c.7888C>A (p.Arg2630Ser)
c.7858C>A (p.Arg2620Ser)
c.7783C>A (p.Arg2595Ser)
c.7681C>A (p.Arg2561Ser)
c.7312C>A (p.Arg2438Ser)
 ClinVar dbSNP gnomAD v4
5g.112843755C=CA1573476521APCc.8215C= (p.Arg2739=)
c.*8167C= (n.*8167C=)
c.8107C= (p.Arg2703=)
c.8161C= (p.Arg2721=)
c.231-12894C=
c.8191C= (p.Arg2731=)
c.8086C= (p.Arg2696=)
c.8077C= (p.Arg2693=)
c.8038C= (p.Arg2680=)
c.7984C= (p.Arg2662=)
c.7888C= (p.Arg2630=)
c.7858C= (p.Arg2620=)
c.7783C= (p.Arg2595=)
c.7681C= (p.Arg2561=)
c.7312C= (p.Arg2438=)
5g.112843755C>GCA16039050APCc.8215C>G (p.Arg2739Gly)
c.*8167C>G (n.*8167C>G)
c.8107C>G (p.Arg2703Gly)
c.8161C>G (p.Arg2721Gly)
c.231-12894C>G
c.8191C>G (p.Arg2731Gly)
c.8086C>G (p.Arg2696Gly)
c.8077C>G (p.Arg2693Gly)
c.8038C>G (p.Arg2680Gly)
c.7984C>G (p.Arg2662Gly)
c.7888C>G (p.Arg2630Gly)
c.7858C>G (p.Arg2620Gly)
c.7783C>G (p.Arg2595Gly)
c.7681C>G (p.Arg2561Gly)
c.7312C>G (p.Arg2438Gly)
 dbSNP
5g.112843755C>TCA014412APCc.8215C>T (p.Arg2739Cys)
c.*8167C>T (n.*8167C>T)
c.8107C>T (p.Arg2703Cys)
c.8161C>T (p.Arg2721Cys)
c.231-12894C>T
c.8191C>T (p.Arg2731Cys)
c.8086C>T (p.Arg2696Cys)
c.8077C>T (p.Arg2693Cys)
c.8038C>T (p.Arg2680Cys)
c.7984C>T (p.Arg2662Cys)
c.7888C>T (p.Arg2630Cys)
c.7858C>T (p.Arg2620Cys)
c.7783C>T (p.Arg2595Cys)
c.7681C>T (p.Arg2561Cys)
c.7312C>T (p.Arg2438Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843756G>ACA014419APCc.8216G>A (p.Arg2739His)
c.*8168G>A (n.*8168G>A)
c.8108G>A (p.Arg2703His)
c.8162G>A (p.Arg2721His)
c.231-12893G>A
c.8192G>A (p.Arg2731His)
c.8087G>A (p.Arg2696His)
c.8078G>A (p.Arg2693His)
c.8039G>A (p.Arg2680His)
c.7985G>A (p.Arg2662His)
c.7889G>A (p.Arg2630His)
c.7859G>A (p.Arg2620His)
c.7784G>A (p.Arg2595His)
c.7682G>A (p.Arg2561His)
c.7313G>A (p.Arg2438His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112843756G>CCA16039051APCc.8216G>C (p.Arg2739Pro)
c.*8168G>C (n.*8168G>C)
c.8108G>C (p.Arg2703Pro)
c.8162G>C (p.Arg2721Pro)
c.231-12893G>C
c.8192G>C (p.Arg2731Pro)
c.8087G>C (p.Arg2696Pro)
c.8078G>C (p.Arg2693Pro)
c.8039G>C (p.Arg2680Pro)
c.7985G>C (p.Arg2662Pro)
c.7889G>C (p.Arg2630Pro)
c.7859G>C (p.Arg2620Pro)
c.7784G>C (p.Arg2595Pro)
c.7682G>C (p.Arg2561Pro)
c.7313G>C (p.Arg2438Pro)
 dbSNP
5g.112843756G=CA1573476556APCc.8216G= (p.Arg2739=)
c.*8168G= (n.*8168G=)
c.8108G= (p.Arg2703=)
c.8162G= (p.Arg2721=)
c.231-12893G=
c.8192G= (p.Arg2731=)
c.8087G= (p.Arg2696=)
c.8078G= (p.Arg2693=)
c.8039G= (p.Arg2680=)
c.7985G= (p.Arg2662=)
c.7889G= (p.Arg2630=)
c.7859G= (p.Arg2620=)
c.7784G= (p.Arg2595=)
c.7682G= (p.Arg2561=)
c.7313G= (p.Arg2438=)
5g.112843756G>TCA16039052APCc.8216G>T (p.Arg2739Leu)
c.*8168G>T (n.*8168G>T)
c.8108G>T (p.Arg2703Leu)
c.8162G>T (p.Arg2721Leu)
c.231-12893G>T
c.8192G>T (p.Arg2731Leu)
c.8087G>T (p.Arg2696Leu)
c.8078G>T (p.Arg2693Leu)
c.8039G>T (p.Arg2680Leu)
c.7985G>T (p.Arg2662Leu)
c.7889G>T (p.Arg2630Leu)
c.7859G>T (p.Arg2620Leu)
c.7784G>T (p.Arg2595Leu)
c.7682G>T (p.Arg2561Leu)
c.7313G>T (p.Arg2438Leu)
 ClinVar dbSNP gnomAD v4
5g.112843757C>ACA446211249APCc.8217C>A (p.Arg2739=)
c.*8169C>A (n.*8169C>A)
c.8109C>A (p.Arg2703=)
c.8163C>A (p.Arg2721=)
c.231-12892C>A
c.8193C>A (p.Arg2731=)
c.8088C>A (p.Arg2696=)
c.8079C>A (p.Arg2693=)
c.8040C>A (p.Arg2680=)
c.7986C>A (p.Arg2662=)
c.7890C>A (p.Arg2630=)
c.7860C>A (p.Arg2620=)
c.7785C>A (p.Arg2595=)
c.7683C>A (p.Arg2561=)
c.7314C>A (p.Arg2438=)
 dbSNP
5g.112843757C>GCA446211247APCc.8217C>G (p.Arg2739=)
c.*8169C>G (n.*8169C>G)
c.8109C>G (p.Arg2703=)
c.8163C>G (p.Arg2721=)
c.231-12892C>G
c.8193C>G (p.Arg2731=)
c.8088C>G (p.Arg2696=)
c.8079C>G (p.Arg2693=)
c.8040C>G (p.Arg2680=)
c.7986C>G (p.Arg2662=)
c.7890C>G (p.Arg2630=)
c.7860C>G (p.Arg2620=)
c.7785C>G (p.Arg2595=)
c.7683C>G (p.Arg2561=)
c.7314C>G (p.Arg2438=)
 ClinVar dbSNP
5g.112843757C>TCA446211246APCc.8217C>T (p.Arg2739=)
c.*8169C>T (n.*8169C>T)
c.8109C>T (p.Arg2703=)
c.8163C>T (p.Arg2721=)
c.231-12892C>T
c.8193C>T (p.Arg2731=)
c.8088C>T (p.Arg2696=)
c.8079C>T (p.Arg2693=)
c.8040C>T (p.Arg2680=)
c.7986C>T (p.Arg2662=)
c.7890C>T (p.Arg2630=)
c.7860C>T (p.Arg2620=)
c.7785C>T (p.Arg2595=)
c.7683C>T (p.Arg2561=)
c.7314C>T (p.Arg2438=)
 ClinVar dbSNP
5g.112843758C>ACA16039053APCc.8218C>A (p.Leu2740Met)
c.*8170C>A (n.*8170C>A)
c.8110C>A (p.Leu2704Met)
c.8164C>A (p.Leu2722Met)
c.231-12891C>A
c.8194C>A (p.Leu2732Met)
c.8089C>A (p.Leu2697Met)
c.8080C>A (p.Leu2694Met)
c.8041C>A (p.Leu2681Met)
c.7987C>A (p.Leu2663Met)
c.7891C>A (p.Leu2631Met)
c.7861C>A (p.Leu2621Met)
c.7786C>A (p.Leu2596Met)
c.7684C>A (p.Leu2562Met)
c.7315C>A (p.Leu2439Met)
 dbSNP
5g.112843758C>GCA16039054APCc.8218C>G (p.Leu2740Val)
c.*8170C>G (n.*8170C>G)
c.8110C>G (p.Leu2704Val)
c.8164C>G (p.Leu2722Val)
c.231-12891C>G
c.8194C>G (p.Leu2732Val)
c.8089C>G (p.Leu2697Val)
c.8080C>G (p.Leu2694Val)
c.8041C>G (p.Leu2681Val)
c.7987C>G (p.Leu2663Val)
c.7891C>G (p.Leu2631Val)
c.7861C>G (p.Leu2621Val)
c.7786C>G (p.Leu2596Val)
c.7684C>G (p.Leu2562Val)
c.7315C>G (p.Leu2439Val)
 dbSNP
5g.112843758C>TCA446211250APCc.8218C>T (p.Leu2740=)
c.*8170C>T (n.*8170C>T)
c.8110C>T (p.Leu2704=)
c.8164C>T (p.Leu2722=)
c.231-12891C>T
c.8194C>T (p.Leu2732=)
c.8089C>T (p.Leu2697=)
c.8080C>T (p.Leu2694=)
c.8041C>T (p.Leu2681=)
c.7987C>T (p.Leu2663=)
c.7891C>T (p.Leu2631=)
c.7861C>T (p.Leu2621=)
c.7786C>T (p.Leu2596=)
c.7684C>T (p.Leu2562=)
c.7315C>T (p.Leu2439=)
 dbSNP gnomAD v4
5g.112843759T>ACA16039055APCc.8219T>A (p.Leu2740Gln)
c.*8171T>A (n.*8171T>A)
c.8111T>A (p.Leu2704Gln)
c.8165T>A (p.Leu2722Gln)
c.231-12890T>A
c.8195T>A (p.Leu2732Gln)
c.8090T>A (p.Leu2697Gln)
c.8081T>A (p.Leu2694Gln)
c.8042T>A (p.Leu2681Gln)
c.7988T>A (p.Leu2663Gln)
c.7892T>A (p.Leu2631Gln)
c.7862T>A (p.Leu2621Gln)
c.7787T>A (p.Leu2596Gln)
c.7685T>A (p.Leu2562Gln)
c.7316T>A (p.Leu2439Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843759T>CCA050043APCc.8219T>C (p.Leu2740Pro)
c.*8171T>C (n.*8171T>C)
c.8111T>C (p.Leu2704Pro)
c.8165T>C (p.Leu2722Pro)
c.231-12890T>C
c.8195T>C (p.Leu2732Pro)
c.8090T>C (p.Leu2697Pro)
c.8081T>C (p.Leu2694Pro)
c.8042T>C (p.Leu2681Pro)
c.7988T>C (p.Leu2663Pro)
c.7892T>C (p.Leu2631Pro)
c.7862T>C (p.Leu2621Pro)
c.7787T>C (p.Leu2596Pro)
c.7685T>C (p.Leu2562Pro)
c.7316T>C (p.Leu2439Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843759T>GCA16039056APCc.8219T>G (p.Leu2740Arg)
c.*8171T>G (n.*8171T>G)
c.8111T>G (p.Leu2704Arg)
c.8165T>G (p.Leu2722Arg)
c.231-12890T>G
c.8195T>G (p.Leu2732Arg)
c.8090T>G (p.Leu2697Arg)
c.8081T>G (p.Leu2694Arg)
c.8042T>G (p.Leu2681Arg)
c.7988T>G (p.Leu2663Arg)
c.7892T>G (p.Leu2631Arg)
c.7862T>G (p.Leu2621Arg)
c.7787T>G (p.Leu2596Arg)
c.7685T>G (p.Leu2562Arg)
c.7316T>G (p.Leu2439Arg)
5g.112843759T=CA1573476579APCc.8219T= (p.Leu2740=)
c.*8171T= (n.*8171T=)
c.8111T= (p.Leu2704=)
c.8165T= (p.Leu2722=)
c.231-12890T=
c.8195T= (p.Leu2732=)
c.8090T= (p.Leu2697=)
c.8081T= (p.Leu2694=)
c.8042T= (p.Leu2681=)
c.7988T= (p.Leu2663=)
c.7892T= (p.Leu2631=)
c.7862T= (p.Leu2621=)
c.7787T= (p.Leu2596=)
c.7685T= (p.Leu2562=)
c.7316T= (p.Leu2439=)
5g.112843760delCA2573138682APCc.8220del (p.Asn2741ThrfsTer16)
c.*8172del (n.*8172del)
c.8112del (p.Asn2705ThrfsTer16)
c.8166del (p.Asn2723ThrfsTer16)
c.231-12889del
c.8196del (p.Asn2733ThrfsTer16)
c.8091del (p.Asn2698ThrfsTer16)
c.8082del (p.Asn2695ThrfsTer16)
c.8043del (p.Asn2682ThrfsTer16)
c.7989del (p.Asn2664ThrfsTer16)
c.7893del (p.Asn2632ThrfsTer16)
c.7863del (p.Asn2622ThrfsTer16)
c.7788del (p.Asn2597ThrfsTer16)
c.7686del (p.Asn2563ThrfsTer16)
c.7317del (p.Asn2440ThrfsTer16)
 ClinVar dbSNP
5g.112843760G>ACA050059APCc.8220G>A (p.Leu2740=)
c.*8172G>A (n.*8172G>A)
c.8112G>A (p.Leu2704=)
c.8166G>A (p.Leu2722=)
c.231-12889G>A
c.8196G>A (p.Leu2732=)
c.8091G>A (p.Leu2697=)
c.8082G>A (p.Leu2694=)
c.8043G>A (p.Leu2681=)
c.7989G>A (p.Leu2663=)
c.7893G>A (p.Leu2631=)
c.7863G>A (p.Leu2621=)
c.7788G>A (p.Leu2596=)
c.7686G>A (p.Leu2562=)
c.7317G>A (p.Leu2439=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843760G>CCA446211253APCc.8220G>C (p.Leu2740=)
c.*8172G>C (n.*8172G>C)
c.8112G>C (p.Leu2704=)
c.8166G>C (p.Leu2722=)
c.231-12889G>C
c.8196G>C (p.Leu2732=)
c.8091G>C (p.Leu2697=)
c.8082G>C (p.Leu2694=)
c.8043G>C (p.Leu2681=)
c.7989G>C (p.Leu2663=)
c.7893G>C (p.Leu2631=)
c.7863G>C (p.Leu2621=)
c.7788G>C (p.Leu2596=)
c.7686G>C (p.Leu2562=)
c.7317G>C (p.Leu2439=)
 ClinVar dbSNP
5g.112843760G=CA1573476592APCc.8220G= (p.Leu2740=)
c.*8172G= (n.*8172G=)
c.8112G= (p.Leu2704=)
c.8166G= (p.Leu2722=)
c.231-12889G=
c.8196G= (p.Leu2732=)
c.8091G= (p.Leu2697=)
c.8082G= (p.Leu2694=)
c.8043G= (p.Leu2681=)
c.7989G= (p.Leu2663=)
c.7893G= (p.Leu2631=)
c.7863G= (p.Leu2621=)
c.7788G= (p.Leu2596=)
c.7686G= (p.Leu2562=)
c.7317G= (p.Leu2439=)
5g.112843760G>TCA446211252APCc.8220G>T (p.Leu2740=)
c.*8172G>T (n.*8172G>T)
c.8112G>T (p.Leu2704=)
c.8166G>T (p.Leu2722=)
c.231-12889G>T
c.8196G>T (p.Leu2732=)
c.8091G>T (p.Leu2697=)
c.8082G>T (p.Leu2694=)
c.8043G>T (p.Leu2681=)
c.7989G>T (p.Leu2663=)
c.7893G>T (p.Leu2631=)
c.7863G>T (p.Leu2621=)
c.7788G>T (p.Leu2596=)
c.7686G>T (p.Leu2562=)
c.7317G>T (p.Leu2439=)
 COSMIC
5g.112843761A>CCA16039057APCc.8221A>C (p.Asn2741His)
c.*8173A>C (n.*8173A>C)
c.8113A>C (p.Asn2705His)
c.8167A>C (p.Asn2723His)
c.231-12888A>C
c.8197A>C (p.Asn2733His)
c.8092A>C (p.Asn2698His)
c.8083A>C (p.Asn2695His)
c.8044A>C (p.Asn2682His)
c.7990A>C (p.Asn2664His)
c.7894A>C (p.Asn2632His)
c.7864A>C (p.Asn2622His)
c.7789A>C (p.Asn2597His)
c.7687A>C (p.Asn2563His)
c.7318A>C (p.Asn2440His)
5g.112843761A>GCA16039058APCc.8221A>G (p.Asn2741Asp)
c.*8173A>G (n.*8173A>G)
c.8113A>G (p.Asn2705Asp)
c.8167A>G (p.Asn2723Asp)
c.231-12888A>G
c.8197A>G (p.Asn2733Asp)
c.8092A>G (p.Asn2698Asp)
c.8083A>G (p.Asn2695Asp)
c.8044A>G (p.Asn2682Asp)
c.7990A>G (p.Asn2664Asp)
c.7894A>G (p.Asn2632Asp)
c.7864A>G (p.Asn2622Asp)
c.7789A>G (p.Asn2597Asp)
c.7687A>G (p.Asn2563Asp)
c.7318A>G (p.Asn2440Asp)
5g.112843761A>TCA16039059APCc.8221A>T (p.Asn2741Tyr)
c.*8173A>T (n.*8173A>T)
c.8113A>T (p.Asn2705Tyr)
c.8167A>T (p.Asn2723Tyr)
c.231-12888A>T
c.8197A>T (p.Asn2733Tyr)
c.8092A>T (p.Asn2698Tyr)
c.8083A>T (p.Asn2695Tyr)
c.8044A>T (p.Asn2682Tyr)
c.7990A>T (p.Asn2664Tyr)
c.7894A>T (p.Asn2632Tyr)
c.7864A>T (p.Asn2622Tyr)
c.7789A>T (p.Asn2597Tyr)
c.7687A>T (p.Asn2563Tyr)
c.7318A>T (p.Asn2440Tyr)
 dbSNP
5g.112843761_112843762insTTATCTTTTGCA2573011523APCc.8221_8222insTTATCTTTTG (p.Asn2741IlefsTer4)
c.*8173_*8174insTTATCTTTTG (n.*8173_*8174insTTATCTTTTG)
c.8113_8114insTTATCTTTTG (p.Asn2705IlefsTer4)
c.8167_8168insTTATCTTTTG (p.Asn2723IlefsTer4)
c.231-12888_231-12887insTTATCTTTTG
c.8197_8198insTTATCTTTTG (p.Asn2733IlefsTer4)
c.8092_8093insTTATCTTTTG (p.Asn2698IlefsTer4)
c.8083_8084insTTATCTTTTG (p.Asn2695IlefsTer4)
c.8044_8045insTTATCTTTTG (p.Asn2682IlefsTer4)
c.7990_7991insTTATCTTTTG (p.Asn2664IlefsTer4)
c.7894_7895insTTATCTTTTG (p.Asn2632IlefsTer4)
c.7864_7865insTTATCTTTTG (p.Asn2622IlefsTer4)
c.7789_7790insTTATCTTTTG (p.Asn2597IlefsTer4)
c.7687_7688insTTATCTTTTG (p.Asn2563IlefsTer4)
c.7318_7319insTTATCTTTTG (p.Asn2440IlefsTer4)
5g.112843762A>CCA16039060APCc.8222A>C (p.Asn2741Thr)
c.*8174A>C (n.*8174A>C)
c.8114A>C (p.Asn2705Thr)
c.8168A>C (p.Asn2723Thr)
c.231-12887A>C
c.8198A>C (p.Asn2733Thr)
c.8093A>C (p.Asn2698Thr)
c.8084A>C (p.Asn2695Thr)
c.8045A>C (p.Asn2682Thr)
c.7991A>C (p.Asn2664Thr)
c.7895A>C (p.Asn2632Thr)
c.7865A>C (p.Asn2622Thr)
c.7790A>C (p.Asn2597Thr)
c.7688A>C (p.Asn2563Thr)
c.7319A>C (p.Asn2440Thr)
 dbSNP
5g.112843762A>GCA16039061APCc.8222A>G (p.Asn2741Ser)
c.*8174A>G (n.*8174A>G)
c.8114A>G (p.Asn2705Ser)
c.8168A>G (p.Asn2723Ser)
c.231-12887A>G
c.8198A>G (p.Asn2733Ser)
c.8093A>G (p.Asn2698Ser)
c.8084A>G (p.Asn2695Ser)
c.8045A>G (p.Asn2682Ser)
c.7991A>G (p.Asn2664Ser)
c.7895A>G (p.Asn2632Ser)
c.7865A>G (p.Asn2622Ser)
c.7790A>G (p.Asn2597Ser)
c.7688A>G (p.Asn2563Ser)
c.7319A>G (p.Asn2440Ser)
5g.112843762A>TCA16039062APCc.8222A>T (p.Asn2741Ile)
c.*8174A>T (n.*8174A>T)
c.8114A>T (p.Asn2705Ile)
c.8168A>T (p.Asn2723Ile)
c.231-12887A>T
c.8198A>T (p.Asn2733Ile)
c.8093A>T (p.Asn2698Ile)
c.8084A>T (p.Asn2695Ile)
c.8045A>T (p.Asn2682Ile)
c.7991A>T (p.Asn2664Ile)
c.7895A>T (p.Asn2632Ile)
c.7865A>T (p.Asn2622Ile)
c.7790A>T (p.Asn2597Ile)
c.7688A>T (p.Asn2563Ile)
c.7319A>T (p.Asn2440Ile)
 dbSNP
5g.112843763C>ACA16039063APCc.8223C>A (p.Asn2741Lys)
c.*8175C>A (n.*8175C>A)
c.8115C>A (p.Asn2705Lys)
c.8169C>A (p.Asn2723Lys)
c.231-12886C>A
c.8199C>A (p.Asn2733Lys)
c.8094C>A (p.Asn2698Lys)
c.8085C>A (p.Asn2695Lys)
c.8046C>A (p.Asn2682Lys)
c.7992C>A (p.Asn2664Lys)
c.7896C>A (p.Asn2632Lys)
c.7866C>A (p.Asn2622Lys)
c.7791C>A (p.Asn2597Lys)
c.7689C>A (p.Asn2563Lys)
c.7320C>A (p.Asn2440Lys)
5g.112843763C>GCA16039064APCc.8223C>G (p.Asn2741Lys)
c.*8175C>G (n.*8175C>G)
c.8115C>G (p.Asn2705Lys)
c.8169C>G (p.Asn2723Lys)
c.231-12886C>G
c.8199C>G (p.Asn2733Lys)
c.8094C>G (p.Asn2698Lys)
c.8085C>G (p.Asn2695Lys)
c.8046C>G (p.Asn2682Lys)
c.7992C>G (p.Asn2664Lys)
c.7896C>G (p.Asn2632Lys)
c.7866C>G (p.Asn2622Lys)
c.7791C>G (p.Asn2597Lys)
c.7689C>G (p.Asn2563Lys)
c.7320C>G (p.Asn2440Lys)
 ClinVar dbSNP
5g.112843763C>TCA446211256APCc.8223C>T (p.Asn2741=)
c.*8175C>T (n.*8175C>T)
c.8115C>T (p.Asn2705=)
c.8169C>T (p.Asn2723=)
c.231-12886C>T
c.8199C>T (p.Asn2733=)
c.8094C>T (p.Asn2698=)
c.8085C>T (p.Asn2695=)
c.8046C>T (p.Asn2682=)
c.7992C>T (p.Asn2664=)
c.7896C>T (p.Asn2632=)
c.7866C>T (p.Asn2622=)
c.7791C>T (p.Asn2597=)
c.7689C>T (p.Asn2563=)
c.7320C>T (p.Asn2440=)
 ClinVar
5g.112843764T>ACA16039065APCc.8224T>A (p.Ser2742Thr)
c.*8176T>A (n.*8176T>A)
c.8116T>A (p.Ser2706Thr)
c.8170T>A (p.Ser2724Thr)
c.231-12885T>A
c.8200T>A (p.Ser2734Thr)
c.8095T>A (p.Ser2699Thr)
c.8086T>A (p.Ser2696Thr)
c.8047T>A (p.Ser2683Thr)
c.7993T>A (p.Ser2665Thr)
c.7897T>A (p.Ser2633Thr)
c.7867T>A (p.Ser2623Thr)
c.7792T>A (p.Ser2598Thr)
c.7690T>A (p.Ser2564Thr)
c.7321T>A (p.Ser2441Thr)
 dbSNP
5g.112843764T>CCA050071APCc.8224T>C (p.Ser2742Pro)
c.*8176T>C (n.*8176T>C)
c.8116T>C (p.Ser2706Pro)
c.8170T>C (p.Ser2724Pro)
c.231-12885T>C
c.8200T>C (p.Ser2734Pro)
c.8095T>C (p.Ser2699Pro)
c.8086T>C (p.Ser2696Pro)
c.8047T>C (p.Ser2683Pro)
c.7993T>C (p.Ser2665Pro)
c.7897T>C (p.Ser2633Pro)
c.7867T>C (p.Ser2623Pro)
c.7792T>C (p.Ser2598Pro)
c.7690T>C (p.Ser2564Pro)
c.7321T>C (p.Ser2441Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843764T>GCA16039066APCc.8224T>G (p.Ser2742Ala)
c.*8176T>G (n.*8176T>G)
c.8116T>G (p.Ser2706Ala)
c.8170T>G (p.Ser2724Ala)
c.231-12885T>G
c.8200T>G (p.Ser2734Ala)
c.8095T>G (p.Ser2699Ala)
c.8086T>G (p.Ser2696Ala)
c.8047T>G (p.Ser2683Ala)
c.7993T>G (p.Ser2665Ala)
c.7897T>G (p.Ser2633Ala)
c.7867T>G (p.Ser2623Ala)
c.7792T>G (p.Ser2598Ala)
c.7690T>G (p.Ser2564Ala)
c.7321T>G (p.Ser2441Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843764T=CA1573476600APCc.8224T= (p.Ser2742=)
c.*8176T= (n.*8176T=)
c.8116T= (p.Ser2706=)
c.8170T= (p.Ser2724=)
c.231-12885T=
c.8200T= (p.Ser2734=)
c.8095T= (p.Ser2699=)
c.8086T= (p.Ser2696=)
c.8047T= (p.Ser2683=)
c.7993T= (p.Ser2665=)
c.7897T= (p.Ser2633=)
c.7867T= (p.Ser2623=)
c.7792T= (p.Ser2598=)
c.7690T= (p.Ser2564=)
c.7321T= (p.Ser2441=)
5g.112843765C>ACA16039067APCc.8225C>A (p.Ser2742Tyr)
c.*8177C>A (n.*8177C>A)
c.8117C>A (p.Ser2706Tyr)
c.8171C>A (p.Ser2724Tyr)
c.231-12884C>A
c.8201C>A (p.Ser2734Tyr)
c.8096C>A (p.Ser2699Tyr)
c.8087C>A (p.Ser2696Tyr)
c.8048C>A (p.Ser2683Tyr)
c.7994C>A (p.Ser2665Tyr)
c.7898C>A (p.Ser2633Tyr)
c.7868C>A (p.Ser2623Tyr)
c.7793C>A (p.Ser2598Tyr)
c.7691C>A (p.Ser2564Tyr)
c.7322C>A (p.Ser2441Tyr)
 dbSNP
5g.112843765C=CA1573476605APCc.8225C= (p.Ser2742=)
c.*8177C= (n.*8177C=)
c.8117C= (p.Ser2706=)
c.8171C= (p.Ser2724=)
c.231-12884C=
c.8201C= (p.Ser2734=)
c.8096C= (p.Ser2699=)
c.8087C= (p.Ser2696=)
c.8048C= (p.Ser2683=)
c.7994C= (p.Ser2665=)
c.7898C= (p.Ser2633=)
c.7868C= (p.Ser2623=)
c.7793C= (p.Ser2598=)
c.7691C= (p.Ser2564=)
c.7322C= (p.Ser2441=)
5g.112843765C>GCA16039068APCc.8225C>G (p.Ser2742Cys)
c.*8177C>G (n.*8177C>G)
c.8117C>G (p.Ser2706Cys)
c.8171C>G (p.Ser2724Cys)
c.231-12884C>G
c.8201C>G (p.Ser2734Cys)
c.8096C>G (p.Ser2699Cys)
c.8087C>G (p.Ser2696Cys)
c.8048C>G (p.Ser2683Cys)
c.7994C>G (p.Ser2665Cys)
c.7898C>G (p.Ser2633Cys)
c.7868C>G (p.Ser2623Cys)
c.7793C>G (p.Ser2598Cys)
c.7691C>G (p.Ser2564Cys)
c.7322C>G (p.Ser2441Cys)
 ClinVar dbSNP
5g.112843765C>TCA16039069APCc.8225C>T (p.Ser2742Phe)
c.*8177C>T (n.*8177C>T)
c.8117C>T (p.Ser2706Phe)
c.8171C>T (p.Ser2724Phe)
c.231-12884C>T
c.8201C>T (p.Ser2734Phe)
c.8096C>T (p.Ser2699Phe)
c.8087C>T (p.Ser2696Phe)
c.8048C>T (p.Ser2683Phe)
c.7994C>T (p.Ser2665Phe)
c.7898C>T (p.Ser2633Phe)
c.7868C>T (p.Ser2623Phe)
c.7793C>T (p.Ser2598Phe)
c.7691C>T (p.Ser2564Phe)
c.7322C>T (p.Ser2441Phe)
 ClinVar dbSNP
5g.112843766C>ACA446211258APCc.8226C>A (p.Ser2742=)
c.*8178C>A (n.*8178C>A)
c.8118C>A (p.Ser2706=)
c.8172C>A (p.Ser2724=)
c.231-12883C>A
c.8202C>A (p.Ser2734=)
c.8097C>A (p.Ser2699=)
c.8088C>A (p.Ser2696=)
c.8049C>A (p.Ser2683=)
c.7995C>A (p.Ser2665=)
c.7899C>A (p.Ser2633=)
c.7869C>A (p.Ser2623=)
c.7794C>A (p.Ser2598=)
c.7692C>A (p.Ser2564=)
c.7323C>A (p.Ser2441=)
5g.112843766C>GCA446211259APCc.8226C>G (p.Ser2742=)
c.*8178C>G (n.*8178C>G)
c.8118C>G (p.Ser2706=)
c.8172C>G (p.Ser2724=)
c.231-12883C>G
c.8202C>G (p.Ser2734=)
c.8097C>G (p.Ser2699=)
c.8088C>G (p.Ser2696=)
c.8049C>G (p.Ser2683=)
c.7995C>G (p.Ser2665=)
c.7899C>G (p.Ser2633=)
c.7869C>G (p.Ser2623=)
c.7794C>G (p.Ser2598=)
c.7692C>G (p.Ser2564=)
c.7323C>G (p.Ser2441=)
 ClinVar dbSNP gnomAD v4
5g.112843766C>TCA446211260APCc.8226C>T (p.Ser2742=)
c.*8178C>T (n.*8178C>T)
c.8118C>T (p.Ser2706=)
c.8172C>T (p.Ser2724=)
c.231-12883C>T
c.8202C>T (p.Ser2734=)
c.8097C>T (p.Ser2699=)
c.8088C>T (p.Ser2696=)
c.8049C>T (p.Ser2683=)
c.7995C>T (p.Ser2665=)
c.7899C>T (p.Ser2633=)
c.7869C>T (p.Ser2623=)
c.7794C>T (p.Ser2598=)
c.7692C>T (p.Ser2564=)
c.7323C>T (p.Ser2441=)
5g.112843767T>ACA16039070APCc.8227T>A (p.Phe2743Ile)
c.*8179T>A (n.*8179T>A)
c.8119T>A (p.Phe2707Ile)
c.8173T>A (p.Phe2725Ile)
c.231-12882T>A
c.8203T>A (p.Phe2735Ile)
c.8098T>A (p.Phe2700Ile)
c.8089T>A (p.Phe2697Ile)
c.8050T>A (p.Phe2684Ile)
c.7996T>A (p.Phe2666Ile)
c.7900T>A (p.Phe2634Ile)
c.7870T>A (p.Phe2624Ile)
c.7795T>A (p.Phe2599Ile)
c.7693T>A (p.Phe2565Ile)
c.7324T>A (p.Phe2442Ile)
 dbSNP
5g.112843767T>CCA16039071APCc.8227T>C (p.Phe2743Leu)
c.*8179T>C (n.*8179T>C)
c.8119T>C (p.Phe2707Leu)
c.8173T>C (p.Phe2725Leu)
c.231-12882T>C
c.8203T>C (p.Phe2735Leu)
c.8098T>C (p.Phe2700Leu)
c.8089T>C (p.Phe2697Leu)
c.8050T>C (p.Phe2684Leu)
c.7996T>C (p.Phe2666Leu)
c.7900T>C (p.Phe2634Leu)
c.7870T>C (p.Phe2624Leu)
c.7795T>C (p.Phe2599Leu)
c.7693T>C (p.Phe2565Leu)
c.7324T>C (p.Phe2442Leu)
 ClinVar dbSNP
5g.112843767T>GCA16039072APCc.8227T>G (p.Phe2743Val)
c.*8179T>G (n.*8179T>G)
c.8119T>G (p.Phe2707Val)
c.8173T>G (p.Phe2725Val)
c.231-12882T>G
c.8203T>G (p.Phe2735Val)
c.8098T>G (p.Phe2700Val)
c.8089T>G (p.Phe2697Val)
c.8050T>G (p.Phe2684Val)
c.7996T>G (p.Phe2666Val)
c.7900T>G (p.Phe2634Val)
c.7870T>G (p.Phe2624Val)
c.7795T>G (p.Phe2599Val)
c.7693T>G (p.Phe2565Val)
c.7324T>G (p.Phe2442Val)
 ClinVar
5g.112843767T=CA1573476623APCc.8227T= (p.Phe2743=)
c.*8179T= (n.*8179T=)
c.8119T= (p.Phe2707=)
c.8173T= (p.Phe2725=)
c.231-12882T=
c.8203T= (p.Phe2735=)
c.8098T= (p.Phe2700=)
c.8089T= (p.Phe2697=)
c.8050T= (p.Phe2684=)
c.7996T= (p.Phe2666=)
c.7900T= (p.Phe2634=)
c.7870T= (p.Phe2624=)
c.7795T= (p.Phe2599=)
c.7693T= (p.Phe2565=)
c.7324T= (p.Phe2442=)
5g.112843768T>ACA16039073APCc.8228T>A (p.Phe2743Tyr)
c.*8180T>A (n.*8180T>A)
c.8120T>A (p.Phe2707Tyr)
c.8174T>A (p.Phe2725Tyr)
c.231-12881T>A
c.8204T>A (p.Phe2735Tyr)
c.8099T>A (p.Phe2700Tyr)
c.8090T>A (p.Phe2697Tyr)
c.8051T>A (p.Phe2684Tyr)
c.7997T>A (p.Phe2666Tyr)
c.7901T>A (p.Phe2634Tyr)
c.7871T>A (p.Phe2624Tyr)
c.7796T>A (p.Phe2599Tyr)
c.7694T>A (p.Phe2565Tyr)
c.7325T>A (p.Phe2442Tyr)
 dbSNP
5g.112843768T>CCA16039074APCc.8228T>C (p.Phe2743Ser)
c.*8180T>C (n.*8180T>C)
c.8120T>C (p.Phe2707Ser)
c.8174T>C (p.Phe2725Ser)
c.231-12881T>C
c.8204T>C (p.Phe2735Ser)
c.8099T>C (p.Phe2700Ser)
c.8090T>C (p.Phe2697Ser)
c.8051T>C (p.Phe2684Ser)
c.7997T>C (p.Phe2666Ser)
c.7901T>C (p.Phe2634Ser)
c.7871T>C (p.Phe2624Ser)
c.7796T>C (p.Phe2599Ser)
c.7694T>C (p.Phe2565Ser)
c.7325T>C (p.Phe2442Ser)
5g.112843768T>GCA16039075APCc.8228T>G (p.Phe2743Cys)
c.*8180T>G (n.*8180T>G)
c.8120T>G (p.Phe2707Cys)
c.8174T>G (p.Phe2725Cys)
c.231-12881T>G
c.8204T>G (p.Phe2735Cys)
c.8099T>G (p.Phe2700Cys)
c.8090T>G (p.Phe2697Cys)
c.8051T>G (p.Phe2684Cys)
c.7997T>G (p.Phe2666Cys)
c.7901T>G (p.Phe2634Cys)
c.7871T>G (p.Phe2624Cys)
c.7796T>G (p.Phe2599Cys)
c.7694T>G (p.Phe2565Cys)
c.7325T>G (p.Phe2442Cys)
 dbSNP gnomAD v4
5g.112843769T>ACA16039076APCc.8229T>A (p.Phe2743Leu)
c.*8181T>A (n.*8181T>A)
c.8121T>A (p.Phe2707Leu)
c.8175T>A (p.Phe2725Leu)
c.231-12880T>A
c.8205T>A (p.Phe2735Leu)
c.8100T>A (p.Phe2700Leu)
c.8091T>A (p.Phe2697Leu)
c.8052T>A (p.Phe2684Leu)
c.7998T>A (p.Phe2666Leu)
c.7902T>A (p.Phe2634Leu)
c.7872T>A (p.Phe2624Leu)
c.7797T>A (p.Phe2599Leu)
c.7695T>A (p.Phe2565Leu)
c.7326T>A (p.Phe2442Leu)
5g.112843769T>CCA446211266APCc.8229T>C (p.Phe2743=)
c.*8181T>C (n.*8181T>C)
c.8121T>C (p.Phe2707=)
c.8175T>C (p.Phe2725=)
c.231-12880T>C
c.8205T>C (p.Phe2735=)
c.8100T>C (p.Phe2700=)
c.8091T>C (p.Phe2697=)
c.8052T>C (p.Phe2684=)
c.7998T>C (p.Phe2666=)
c.7902T>C (p.Phe2634=)
c.7872T>C (p.Phe2624=)
c.7797T>C (p.Phe2599=)
c.7695T>C (p.Phe2565=)
c.7326T>C (p.Phe2442=)
5g.112843769T>GCA16039077APCc.8229T>G (p.Phe2743Leu)
c.*8181T>G (n.*8181T>G)
c.8121T>G (p.Phe2707Leu)
c.8175T>G (p.Phe2725Leu)
c.231-12880T>G
c.8205T>G (p.Phe2735Leu)
c.8100T>G (p.Phe2700Leu)
c.8091T>G (p.Phe2697Leu)
c.8052T>G (p.Phe2684Leu)
c.7998T>G (p.Phe2666Leu)
c.7902T>G (p.Phe2634Leu)
c.7872T>G (p.Phe2624Leu)
c.7797T>G (p.Phe2599Leu)
c.7695T>G (p.Phe2565Leu)
c.7326T>G (p.Phe2442Leu)
5g.112843770A=CA1573476632APCc.8230A= (p.Ile2744=)
c.*8182A= (n.*8182A=)
c.8122A= (p.Ile2708=)
c.8176A= (p.Ile2726=)
c.231-12879A=
c.8206A= (p.Ile2736=)
c.8101A= (p.Ile2701=)
c.8092A= (p.Ile2698=)
c.8053A= (p.Ile2685=)
c.7999A= (p.Ile2667=)
c.7903A= (p.Ile2635=)
c.7873A= (p.Ile2625=)
c.7798A= (p.Ile2600=)
c.7696A= (p.Ile2566=)
c.7327A= (p.Ile2443=)
5g.112843770A>CCA16039078APCc.8230A>C (p.Ile2744Leu)
c.*8182A>C (n.*8182A>C)
c.8122A>C (p.Ile2708Leu)
c.8176A>C (p.Ile2726Leu)
c.231-12879A>C
c.8206A>C (p.Ile2736Leu)
c.8101A>C (p.Ile2701Leu)
c.8092A>C (p.Ile2698Leu)
c.8053A>C (p.Ile2685Leu)
c.7999A>C (p.Ile2667Leu)
c.7903A>C (p.Ile2635Leu)
c.7873A>C (p.Ile2625Leu)
c.7798A>C (p.Ile2600Leu)
c.7696A>C (p.Ile2566Leu)
c.7327A>C (p.Ile2443Leu)
 dbSNP
5g.112843770A>GCA16039079APCc.8230A>G (p.Ile2744Val)
c.*8182A>G (n.*8182A>G)
c.8122A>G (p.Ile2708Val)
c.8176A>G (p.Ile2726Val)
c.231-12879A>G
c.8206A>G (p.Ile2736Val)
c.8101A>G (p.Ile2701Val)
c.8092A>G (p.Ile2698Val)
c.8053A>G (p.Ile2685Val)
c.7999A>G (p.Ile2667Val)
c.7903A>G (p.Ile2635Val)
c.7873A>G (p.Ile2625Val)
c.7798A>G (p.Ile2600Val)
c.7696A>G (p.Ile2566Val)
c.7327A>G (p.Ile2443Val)
5g.112843770A>TCA16039080APCc.8230A>T (p.Ile2744Phe)
c.*8182A>T (n.*8182A>T)
c.8122A>T (p.Ile2708Phe)
c.8176A>T (p.Ile2726Phe)
c.231-12879A>T
c.8206A>T (p.Ile2736Phe)
c.8101A>T (p.Ile2701Phe)
c.8092A>T (p.Ile2698Phe)
c.8053A>T (p.Ile2685Phe)
c.7999A>T (p.Ile2667Phe)
c.7903A>T (p.Ile2635Phe)
c.7873A>T (p.Ile2625Phe)
c.7798A>T (p.Ile2600Phe)
c.7696A>T (p.Ile2566Phe)
c.7327A>T (p.Ile2443Phe)
 dbSNP
5g.112843771T>ACA16039081APCc.8231T>A (p.Ile2744Asn)
c.*8183T>A (n.*8183T>A)
c.8123T>A (p.Ile2708Asn)
c.8177T>A (p.Ile2726Asn)
c.231-12878T>A
c.8207T>A (p.Ile2736Asn)
c.8102T>A (p.Ile2701Asn)
c.8093T>A (p.Ile2698Asn)
c.8054T>A (p.Ile2685Asn)
c.8000T>A (p.Ile2667Asn)
c.7904T>A (p.Ile2635Asn)
c.7874T>A (p.Ile2625Asn)
c.7799T>A (p.Ile2600Asn)
c.7697T>A (p.Ile2566Asn)
c.7328T>A (p.Ile2443Asn)
 dbSNP
5g.112843771T>CCA16039082APCc.8231T>C (p.Ile2744Thr)
c.*8183T>C (n.*8183T>C)
c.8123T>C (p.Ile2708Thr)
c.8177T>C (p.Ile2726Thr)
c.231-12878T>C
c.8207T>C (p.Ile2736Thr)
c.8102T>C (p.Ile2701Thr)
c.8093T>C (p.Ile2698Thr)
c.8054T>C (p.Ile2685Thr)
c.8000T>C (p.Ile2667Thr)
c.7904T>C (p.Ile2635Thr)
c.7874T>C (p.Ile2625Thr)
c.7799T>C (p.Ile2600Thr)
c.7697T>C (p.Ile2566Thr)
c.7328T>C (p.Ile2443Thr)
5g.112843771T>GCA16039083APCc.8231T>G (p.Ile2744Ser)
c.*8183T>G (n.*8183T>G)
c.8123T>G (p.Ile2708Ser)
c.8177T>G (p.Ile2726Ser)
c.231-12878T>G
c.8207T>G (p.Ile2736Ser)
c.8102T>G (p.Ile2701Ser)
c.8093T>G (p.Ile2698Ser)
c.8054T>G (p.Ile2685Ser)
c.8000T>G (p.Ile2667Ser)
c.7904T>G (p.Ile2635Ser)
c.7874T>G (p.Ile2625Ser)
c.7799T>G (p.Ile2600Ser)
c.7697T>G (p.Ile2566Ser)
c.7328T>G (p.Ile2443Ser)
5g.112843772T>ACA446211270APCc.8232T>A (p.Ile2744=)
c.*8184T>A (n.*8184T>A)
c.8124T>A (p.Ile2708=)
c.8178T>A (p.Ile2726=)
c.231-12877T>A
c.8208T>A (p.Ile2736=)
c.8103T>A (p.Ile2701=)
c.8094T>A (p.Ile2698=)
c.8055T>A (p.Ile2685=)
c.8001T>A (p.Ile2667=)
c.7905T>A (p.Ile2635=)
c.7875T>A (p.Ile2625=)
c.7800T>A (p.Ile2600=)
c.7698T>A (p.Ile2566=)
c.7329T>A (p.Ile2443=)
 ClinVar dbSNP
5g.112843772T>CCA446211271APCc.8232T>C (p.Ile2744=)
c.*8184T>C (n.*8184T>C)
c.8124T>C (p.Ile2708=)
c.8178T>C (p.Ile2726=)
c.231-12877T>C
c.8208T>C (p.Ile2736=)
c.8103T>C (p.Ile2701=)
c.8094T>C (p.Ile2698=)
c.8055T>C (p.Ile2685=)
c.8001T>C (p.Ile2667=)
c.7905T>C (p.Ile2635=)
c.7875T>C (p.Ile2625=)
c.7800T>C (p.Ile2600=)
c.7698T>C (p.Ile2566=)
c.7329T>C (p.Ile2443=)
5g.112843772T>GCA16039084APCc.8232T>G (p.Ile2744Met)
c.*8184T>G (n.*8184T>G)
c.8124T>G (p.Ile2708Met)
c.8178T>G (p.Ile2726Met)
c.231-12877T>G
c.8208T>G (p.Ile2736Met)
c.8103T>G (p.Ile2701Met)
c.8094T>G (p.Ile2698Met)
c.8055T>G (p.Ile2685Met)
c.8001T>G (p.Ile2667Met)
c.7905T>G (p.Ile2635Met)
c.7875T>G (p.Ile2625Met)
c.7800T>G (p.Ile2600Met)
c.7698T>G (p.Ile2566Met)
c.7329T>G (p.Ile2443Met)
 ClinVar gnomAD v4
5g.112843772T=CA1573476640APCc.8232T= (p.Ile2744=)
c.*8184T= (n.*8184T=)
c.8124T= (p.Ile2708=)
c.8178T= (p.Ile2726=)
c.231-12877T=
c.8208T= (p.Ile2736=)
c.8103T= (p.Ile2701=)
c.8094T= (p.Ile2698=)
c.8055T= (p.Ile2685=)
c.8001T= (p.Ile2667=)
c.7905T= (p.Ile2635=)
c.7875T= (p.Ile2625=)
c.7800T= (p.Ile2600=)
c.7698T= (p.Ile2566=)
c.7329T= (p.Ile2443=)
5g.112843773C>ACA16039085APCc.8233C>A (p.Gln2745Lys)
c.*8185C>A (n.*8185C>A)
c.8125C>A (p.Gln2709Lys)
c.8179C>A (p.Gln2727Lys)
c.231-12876C>A
c.8209C>A (p.Gln2737Lys)
c.8104C>A (p.Gln2702Lys)
c.8095C>A (p.Gln2699Lys)
c.8056C>A (p.Gln2686Lys)
c.8002C>A (p.Gln2668Lys)
c.7906C>A (p.Gln2636Lys)
c.7876C>A (p.Gln2626Lys)
c.7801C>A (p.Gln2601Lys)
c.7699C>A (p.Gln2567Lys)
c.7330C>A (p.Gln2444Lys)
 ClinVar
5g.112843773C>GCA16039086APCc.8233C>G (p.Gln2745Glu)
c.*8185C>G (n.*8185C>G)
c.8125C>G (p.Gln2709Glu)
c.8179C>G (p.Gln2727Glu)
c.231-12876C>G
c.8209C>G (p.Gln2737Glu)
c.8104C>G (p.Gln2702Glu)
c.8095C>G (p.Gln2699Glu)
c.8056C>G (p.Gln2686Glu)
c.8002C>G (p.Gln2668Glu)
c.7906C>G (p.Gln2636Glu)
c.7876C>G (p.Gln2626Glu)
c.7801C>G (p.Gln2601Glu)
c.7699C>G (p.Gln2567Glu)
c.7330C>G (p.Gln2444Glu)
5g.112843773C>TCA16039087APCc.8233C>T (p.Gln2745Ter)
c.*8185C>T (n.*8185C>T)
c.8125C>T (p.Gln2709Ter)
c.8179C>T (p.Gln2727Ter)
c.231-12876C>T
c.8209C>T (p.Gln2737Ter)
c.8104C>T (p.Gln2702Ter)
c.8095C>T (p.Gln2699Ter)
c.8056C>T (p.Gln2686Ter)
c.8002C>T (p.Gln2668Ter)
c.7906C>T (p.Gln2636Ter)
c.7876C>T (p.Gln2626Ter)
c.7801C>T (p.Gln2601Ter)
c.7699C>T (p.Gln2567Ter)
c.7330C>T (p.Gln2444Ter)
 COSMIC
5g.112843774A=CA1573476644APCc.8234A= (p.Gln2745=)
c.*8186A= (n.*8186A=)
c.8126A= (p.Gln2709=)
c.8180A= (p.Gln2727=)
c.231-12875A=
c.8210A= (p.Gln2737=)
c.8105A= (p.Gln2702=)
c.8096A= (p.Gln2699=)
c.8057A= (p.Gln2686=)
c.8003A= (p.Gln2668=)
c.7907A= (p.Gln2636=)
c.7877A= (p.Gln2626=)
c.7802A= (p.Gln2601=)
c.7700A= (p.Gln2567=)
c.7331A= (p.Gln2444=)
5g.112843774A>CCA16039088APCc.8234A>C (p.Gln2745Pro)
c.*8186A>C (n.*8186A>C)
c.8126A>C (p.Gln2709Pro)
c.8180A>C (p.Gln2727Pro)
c.231-12875A>C
c.8210A>C (p.Gln2737Pro)
c.8105A>C (p.Gln2702Pro)
c.8096A>C (p.Gln2699Pro)
c.8057A>C (p.Gln2686Pro)
c.8003A>C (p.Gln2668Pro)
c.7907A>C (p.Gln2636Pro)
c.7877A>C (p.Gln2626Pro)
c.7802A>C (p.Gln2601Pro)
c.7700A>C (p.Gln2567Pro)
c.7331A>C (p.Gln2444Pro)
5g.112843774A>GCA16039089APCc.8234A>G (p.Gln2745Arg)
c.*8186A>G (n.*8186A>G)
c.8126A>G (p.Gln2709Arg)
c.8180A>G (p.Gln2727Arg)
c.231-12875A>G
c.8210A>G (p.Gln2737Arg)
c.8105A>G (p.Gln2702Arg)
c.8096A>G (p.Gln2699Arg)
c.8057A>G (p.Gln2686Arg)
c.8003A>G (p.Gln2668Arg)
c.7907A>G (p.Gln2636Arg)
c.7877A>G (p.Gln2626Arg)
c.7802A>G (p.Gln2601Arg)
c.7700A>G (p.Gln2567Arg)
c.7331A>G (p.Gln2444Arg)
 dbSNP
5g.112843774A>TCA16039090APCc.8234A>T (p.Gln2745Leu)
c.*8186A>T (n.*8186A>T)
c.8126A>T (p.Gln2709Leu)
c.8180A>T (p.Gln2727Leu)
c.231-12875A>T
c.8210A>T (p.Gln2737Leu)
c.8105A>T (p.Gln2702Leu)
c.8096A>T (p.Gln2699Leu)
c.8057A>T (p.Gln2686Leu)
c.8003A>T (p.Gln2668Leu)
c.7907A>T (p.Gln2636Leu)
c.7877A>T (p.Gln2626Leu)
c.7802A>T (p.Gln2601Leu)
c.7700A>T (p.Gln2567Leu)
c.7331A>T (p.Gln2444Leu)
 ClinVar dbSNP
5g.112843775G>ACA050111APCc.8235G>A (p.Gln2745=)
c.*8187G>A (n.*8187G>A)
c.8127G>A (p.Gln2709=)
c.8181G>A (p.Gln2727=)
c.231-12874G>A
c.8211G>A (p.Gln2737=)
c.8106G>A (p.Gln2702=)
c.8097G>A (p.Gln2699=)
c.8058G>A (p.Gln2686=)
c.8004G>A (p.Gln2668=)
c.7908G>A (p.Gln2636=)
c.7878G>A (p.Gln2626=)
c.7803G>A (p.Gln2601=)
c.7701G>A (p.Gln2567=)
c.7332G>A (p.Gln2444=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843775G>CCA16039091APCc.8235G>C (p.Gln2745His)
c.*8187G>C (n.*8187G>C)
c.8127G>C (p.Gln2709His)
c.8181G>C (p.Gln2727His)
c.231-12874G>C
c.8211G>C (p.Gln2737His)
c.8106G>C (p.Gln2702His)
c.8097G>C (p.Gln2699His)
c.8058G>C (p.Gln2686His)
c.8004G>C (p.Gln2668His)
c.7908G>C (p.Gln2636His)
c.7878G>C (p.Gln2626His)
c.7803G>C (p.Gln2601His)
c.7701G>C (p.Gln2567His)
c.7332G>C (p.Gln2444His)
 ClinVar dbSNP gnomAD v2
5g.112843775G=CA1573476651APCc.8235G= (p.Gln2745=)
c.*8187G= (n.*8187G=)
c.8127G= (p.Gln2709=)
c.8181G= (p.Gln2727=)
c.231-12874G=
c.8211G= (p.Gln2737=)
c.8106G= (p.Gln2702=)
c.8097G= (p.Gln2699=)
c.8058G= (p.Gln2686=)
c.8004G= (p.Gln2668=)
c.7908G= (p.Gln2636=)
c.7878G= (p.Gln2626=)
c.7803G= (p.Gln2601=)
c.7701G= (p.Gln2567=)
c.7332G= (p.Gln2444=)
5g.112843775G>TCA16039092APCc.8235G>T (p.Gln2745His)
c.*8187G>T (n.*8187G>T)
c.8127G>T (p.Gln2709His)
c.8181G>T (p.Gln2727His)
c.231-12874G>T
c.8211G>T (p.Gln2737His)
c.8106G>T (p.Gln2702His)
c.8097G>T (p.Gln2699His)
c.8058G>T (p.Gln2686His)
c.8004G>T (p.Gln2668His)
c.7908G>T (p.Gln2636His)
c.7878G>T (p.Gln2626His)
c.7803G>T (p.Gln2601His)
c.7701G>T (p.Gln2567His)
c.7332G>T (p.Gln2444His)
 dbSNP
5g.112843776G>ACA014427APCc.8236G>A (p.Val2746Met)
c.*8188G>A (n.*8188G>A)
c.8128G>A (p.Val2710Met)
c.8182G>A (p.Val2728Met)
c.231-12873G>A
c.8212G>A (p.Val2738Met)
c.8107G>A (p.Val2703Met)
c.8098G>A (p.Val2700Met)
c.8059G>A (p.Val2687Met)
c.8005G>A (p.Val2669Met)
c.7909G>A (p.Val2637Met)
c.7879G>A (p.Val2627Met)
c.7804G>A (p.Val2602Met)
c.7702G>A (p.Val2568Met)
c.7333G>A (p.Val2445Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843776G>CCA16039093APCc.8236G>C (p.Val2746Leu)
c.*8188G>C (n.*8188G>C)
c.8128G>C (p.Val2710Leu)
c.8182G>C (p.Val2728Leu)
c.231-12873G>C
c.8212G>C (p.Val2738Leu)
c.8107G>C (p.Val2703Leu)
c.8098G>C (p.Val2700Leu)
c.8059G>C (p.Val2687Leu)
c.8005G>C (p.Val2669Leu)
c.7909G>C (p.Val2637Leu)
c.7879G>C (p.Val2627Leu)
c.7804G>C (p.Val2602Leu)
c.7702G>C (p.Val2568Leu)
c.7333G>C (p.Val2445Leu)
 dbSNP
5g.112843776G=CA1573476659APCc.8236G= (p.Val2746=)
c.*8188G= (n.*8188G=)
c.8128G= (p.Val2710=)
c.8182G= (p.Val2728=)
c.231-12873G=
c.8212G= (p.Val2738=)
c.8107G= (p.Val2703=)
c.8098G= (p.Val2700=)
c.8059G= (p.Val2687=)
c.8005G= (p.Val2669=)
c.7909G= (p.Val2637=)
c.7879G= (p.Val2627=)
c.7804G= (p.Val2602=)
c.7702G= (p.Val2568=)
c.7333G= (p.Val2445=)
5g.112843776G>TCA16039094APCc.8236G>T (p.Val2746Leu)
c.*8188G>T (n.*8188G>T)
c.8128G>T (p.Val2710Leu)
c.8182G>T (p.Val2728Leu)
c.231-12873G>T
c.8212G>T (p.Val2738Leu)
c.8107G>T (p.Val2703Leu)
c.8098G>T (p.Val2700Leu)
c.8059G>T (p.Val2687Leu)
c.8005G>T (p.Val2669Leu)
c.7909G>T (p.Val2637Leu)
c.7879G>T (p.Val2627Leu)
c.7804G>T (p.Val2602Leu)
c.7702G>T (p.Val2568Leu)
c.7333G>T (p.Val2445Leu)
 dbSNP
5g.112843777T>ACA16039095APCc.8237T>A (p.Val2746Glu)
c.*8189T>A (n.*8189T>A)
c.8129T>A (p.Val2710Glu)
c.8183T>A (p.Val2728Glu)
c.231-12872T>A
c.8213T>A (p.Val2738Glu)
c.8108T>A (p.Val2703Glu)
c.8099T>A (p.Val2700Glu)
c.8060T>A (p.Val2687Glu)
c.8006T>A (p.Val2669Glu)
c.7910T>A (p.Val2637Glu)
c.7880T>A (p.Val2627Glu)
c.7805T>A (p.Val2602Glu)
c.7703T>A (p.Val2568Glu)
c.7334T>A (p.Val2445Glu)
5g.112843777T>CCA16039096APCc.8237T>C (p.Val2746Ala)
c.*8189T>C (n.*8189T>C)
c.8129T>C (p.Val2710Ala)
c.8183T>C (p.Val2728Ala)
c.231-12872T>C
c.8213T>C (p.Val2738Ala)
c.8108T>C (p.Val2703Ala)
c.8099T>C (p.Val2700Ala)
c.8060T>C (p.Val2687Ala)
c.8006T>C (p.Val2669Ala)
c.7910T>C (p.Val2637Ala)
c.7880T>C (p.Val2627Ala)
c.7805T>C (p.Val2602Ala)
c.7703T>C (p.Val2568Ala)
c.7334T>C (p.Val2445Ala)
5g.112843777T>GCA050131APCc.8237T>G (p.Val2746Gly)
c.*8189T>G (n.*8189T>G)
c.8129T>G (p.Val2710Gly)
c.8183T>G (p.Val2728Gly)
c.231-12872T>G
c.8213T>G (p.Val2738Gly)
c.8108T>G (p.Val2703Gly)
c.8099T>G (p.Val2700Gly)
c.8060T>G (p.Val2687Gly)
c.8006T>G (p.Val2669Gly)
c.7910T>G (p.Val2637Gly)
c.7880T>G (p.Val2627Gly)
c.7805T>G (p.Val2602Gly)
c.7703T>G (p.Val2568Gly)
c.7334T>G (p.Val2445Gly)
 ClinVar dbSNP ExAC gnomAD v4
5g.112843777T=CA1573476664APCc.8237T= (p.Val2746=)
c.*8189T= (n.*8189T=)
c.8129T= (p.Val2710=)
c.8183T= (p.Val2728=)
c.231-12872T=
c.8213T= (p.Val2738=)
c.8108T= (p.Val2703=)
c.8099T= (p.Val2700=)
c.8060T= (p.Val2687=)
c.8006T= (p.Val2669=)
c.7910T= (p.Val2637=)
c.7880T= (p.Val2627=)
c.7805T= (p.Val2602=)
c.7703T= (p.Val2568=)
c.7334T= (p.Val2445=)
5g.112843778G>ACA446211280APCc.8238G>A (p.Val2746=)
c.*8190G>A (n.*8190G>A)
c.8130G>A (p.Val2710=)
c.8184G>A (p.Val2728=)
c.231-12871G>A
c.8214G>A (p.Val2738=)
c.8109G>A (p.Val2703=)
c.8100G>A (p.Val2700=)
c.8061G>A (p.Val2687=)
c.8007G>A (p.Val2669=)
c.7911G>A (p.Val2637=)
c.7881G>A (p.Val2627=)
c.7806G>A (p.Val2602=)
c.7704G>A (p.Val2568=)
c.7335G>A (p.Val2445=)
 ClinVar dbSNP gnomAD v4
5g.112843778G>CCA446211279APCc.8238G>C (p.Val2746=)
c.*8190G>C (n.*8190G>C)
c.8130G>C (p.Val2710=)
c.8184G>C (p.Val2728=)
c.231-12871G>C
c.8214G>C (p.Val2738=)
c.8109G>C (p.Val2703=)
c.8100G>C (p.Val2700=)
c.8061G>C (p.Val2687=)
c.8007G>C (p.Val2669=)
c.7911G>C (p.Val2637=)
c.7881G>C (p.Val2627=)
c.7806G>C (p.Val2602=)
c.7704G>C (p.Val2568=)
c.7335G>C (p.Val2445=)
 ClinVar dbSNP gnomAD v4
5g.112843778G=CA1573476673APCc.8238G= (p.Val2746=)
c.*8190G= (n.*8190G=)
c.8130G= (p.Val2710=)
c.8184G= (p.Val2728=)
c.231-12871G=
c.8214G= (p.Val2738=)
c.8109G= (p.Val2703=)
c.8100G= (p.Val2700=)
c.8061G= (p.Val2687=)
c.8007G= (p.Val2669=)
c.7911G= (p.Val2637=)
c.7881G= (p.Val2627=)
c.7806G= (p.Val2602=)
c.7704G= (p.Val2568=)
c.7335G= (p.Val2445=)
5g.112843778G>TCA446211278APCc.8238G>T (p.Val2746=)
c.*8190G>T (n.*8190G>T)
c.8130G>T (p.Val2710=)
c.8184G>T (p.Val2728=)
c.231-12871G>T
c.8214G>T (p.Val2738=)
c.8109G>T (p.Val2703=)
c.8100G>T (p.Val2700=)
c.8061G>T (p.Val2687=)
c.8007G>T (p.Val2669=)
c.7911G>T (p.Val2637=)
c.7881G>T (p.Val2627=)
c.7806G>T (p.Val2602=)
c.7704G>T (p.Val2568=)
c.7335G>T (p.Val2445=)
5g.112843779delCA2709999311APCc.8239del (p.Asp2747MetfsTer10)
c.*8191del (n.*8191del)
c.8131del (p.Asp2711MetfsTer10)
c.8185del (p.Asp2729MetfsTer10)
c.231-12870del
c.8215del (p.Asp2739MetfsTer10)
c.8110del (p.Asp2704MetfsTer10)
c.8101del (p.Asp2701MetfsTer10)
c.8062del (p.Asp2688MetfsTer10)
c.8008del (p.Asp2670MetfsTer10)
c.7912del (p.Asp2638MetfsTer10)
c.7882del (p.Asp2628MetfsTer10)
c.7807del (p.Asp2603MetfsTer10)
c.7705del (p.Asp2569MetfsTer10)
c.7336del (p.Asp2446MetfsTer10)
 dbSNP
5g.112843779G>ACA16039097APCc.8239G>A (p.Asp2747Asn)
c.*8191G>A (n.*8191G>A)
c.8131G>A (p.Asp2711Asn)
c.8185G>A (p.Asp2729Asn)
c.231-12870G>A
c.8215G>A (p.Asp2739Asn)
c.8110G>A (p.Asp2704Asn)
c.8101G>A (p.Asp2701Asn)
c.8062G>A (p.Asp2688Asn)
c.8008G>A (p.Asp2670Asn)
c.7912G>A (p.Asp2638Asn)
c.7882G>A (p.Asp2628Asn)
c.7807G>A (p.Asp2603Asn)
c.7705G>A (p.Asp2569Asn)
c.7336G>A (p.Asp2446Asn)
 dbSNP
5g.112843779G>CCA16039098APCc.8239G>C (p.Asp2747His)
c.*8191G>C (n.*8191G>C)
c.8131G>C (p.Asp2711His)
c.8185G>C (p.Asp2729His)
c.231-12870G>C
c.8215G>C (p.Asp2739His)
c.8110G>C (p.Asp2704His)
c.8101G>C (p.Asp2701His)
c.8062G>C (p.Asp2688His)
c.8008G>C (p.Asp2670His)
c.7912G>C (p.Asp2638His)
c.7882G>C (p.Asp2628His)
c.7807G>C (p.Asp2603His)
c.7705G>C (p.Asp2569His)
c.7336G>C (p.Asp2446His)
 dbSNP
5g.112843779G>TCA16039099APCc.8239G>T (p.Asp2747Tyr)
c.*8191G>T (n.*8191G>T)
c.8131G>T (p.Asp2711Tyr)
c.8185G>T (p.Asp2729Tyr)
c.231-12870G>T
c.8215G>T (p.Asp2739Tyr)
c.8110G>T (p.Asp2704Tyr)
c.8101G>T (p.Asp2701Tyr)
c.8062G>T (p.Asp2688Tyr)
c.8008G>T (p.Asp2670Tyr)
c.7912G>T (p.Asp2638Tyr)
c.7882G>T (p.Asp2628Tyr)
c.7807G>T (p.Asp2603Tyr)
c.7705G>T (p.Asp2569Tyr)
c.7336G>T (p.Asp2446Tyr)
 dbSNP
5g.112843780A>CCA16039100APCc.8240A>C (p.Asp2747Ala)
c.*8192A>C (n.*8192A>C)
c.8132A>C (p.Asp2711Ala)
c.8186A>C (p.Asp2729Ala)
c.231-12869A>C
c.8216A>C (p.Asp2739Ala)
c.8111A>C (p.Asp2704Ala)
c.8102A>C (p.Asp2701Ala)
c.8063A>C (p.Asp2688Ala)
c.8009A>C (p.Asp2670Ala)
c.7913A>C (p.Asp2638Ala)
c.7883A>C (p.Asp2628Ala)
c.7808A>C (p.Asp2603Ala)
c.7706A>C (p.Asp2569Ala)
c.7337A>C (p.Asp2446Ala)
 dbSNP
5g.112843780A>GCA16039101APCc.8240A>G (p.Asp2747Gly)
c.*8192A>G (n.*8192A>G)
c.8132A>G (p.Asp2711Gly)
c.8186A>G (p.Asp2729Gly)
c.231-12869A>G
c.8216A>G (p.Asp2739Gly)
c.8111A>G (p.Asp2704Gly)
c.8102A>G (p.Asp2701Gly)
c.8063A>G (p.Asp2688Gly)
c.8009A>G (p.Asp2670Gly)
c.7913A>G (p.Asp2638Gly)
c.7883A>G (p.Asp2628Gly)
c.7808A>G (p.Asp2603Gly)
c.7706A>G (p.Asp2569Gly)
c.7337A>G (p.Asp2446Gly)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112843780A>TCA16039102APCc.8240A>T (p.Asp2747Val)
c.*8192A>T (n.*8192A>T)
c.8132A>T (p.Asp2711Val)
c.8186A>T (p.Asp2729Val)
c.231-12869A>T
c.8216A>T (p.Asp2739Val)
c.8111A>T (p.Asp2704Val)
c.8102A>T (p.Asp2701Val)
c.8063A>T (p.Asp2688Val)
c.8009A>T (p.Asp2670Val)
c.7913A>T (p.Asp2638Val)
c.7883A>T (p.Asp2628Val)
c.7808A>T (p.Asp2603Val)
c.7706A>T (p.Asp2569Val)
c.7337A>T (p.Asp2446Val)
 ClinVar dbSNP gnomAD v4
5g.112843781T>ACA16039103APCc.8241T>A (p.Asp2747Glu)
c.*8193T>A (n.*8193T>A)
c.8133T>A (p.Asp2711Glu)
c.8187T>A (p.Asp2729Glu)
c.231-12868T>A
c.8217T>A (p.Asp2739Glu)
c.8112T>A (p.Asp2704Glu)
c.8103T>A (p.Asp2701Glu)
c.8064T>A (p.Asp2688Glu)
c.8010T>A (p.Asp2670Glu)
c.7914T>A (p.Asp2638Glu)
c.7884T>A (p.Asp2628Glu)
c.7809T>A (p.Asp2603Glu)
c.7707T>A (p.Asp2569Glu)
c.7338T>A (p.Asp2446Glu)
 dbSNP
5g.112843781T>CCA446211283APCc.8241T>C (p.Asp2747=)
c.*8193T>C (n.*8193T>C)
c.8133T>C (p.Asp2711=)
c.8187T>C (p.Asp2729=)
c.231-12868T>C
c.8217T>C (p.Asp2739=)
c.8112T>C (p.Asp2704=)
c.8103T>C (p.Asp2701=)
c.8064T>C (p.Asp2688=)
c.8010T>C (p.Asp2670=)
c.7914T>C (p.Asp2638=)
c.7884T>C (p.Asp2628=)
c.7809T>C (p.Asp2603=)
c.7707T>C (p.Asp2569=)
c.7338T>C (p.Asp2446=)
 ClinVar
5g.112843781T>GCA16039104APCc.8241T>G (p.Asp2747Glu)
c.*8193T>G (n.*8193T>G)
c.8133T>G (p.Asp2711Glu)
c.8187T>G (p.Asp2729Glu)
c.231-12868T>G
c.8217T>G (p.Asp2739Glu)
c.8112T>G (p.Asp2704Glu)
c.8103T>G (p.Asp2701Glu)
c.8064T>G (p.Asp2688Glu)
c.8010T>G (p.Asp2670Glu)
c.7914T>G (p.Asp2638Glu)
c.7884T>G (p.Asp2628Glu)
c.7809T>G (p.Asp2603Glu)
c.7707T>G (p.Asp2569Glu)
c.7338T>G (p.Asp2446Glu)
5g.112843782G>ACA16039105APCc.8242G>A (p.Ala2748Thr)
c.*8194G>A (n.*8194G>A)
c.8134G>A (p.Ala2712Thr)
c.8188G>A (p.Ala2730Thr)
c.231-12867G>A
c.8218G>A (p.Ala2740Thr)
c.8113G>A (p.Ala2705Thr)
c.8104G>A (p.Ala2702Thr)
c.8065G>A (p.Ala2689Thr)
c.8011G>A (p.Ala2671Thr)
c.7915G>A (p.Ala2639Thr)
c.7885G>A (p.Ala2629Thr)
c.7810G>A (p.Ala2604Thr)
c.7708G>A (p.Ala2570Thr)
c.7339G>A (p.Ala2447Thr)
 ClinVar dbSNP gnomAD v4
5g.112843782G>CCA16039106APCc.8242G>C (p.Ala2748Pro)
c.*8194G>C (n.*8194G>C)
c.8134G>C (p.Ala2712Pro)
c.8188G>C (p.Ala2730Pro)
c.231-12867G>C
c.8218G>C (p.Ala2740Pro)
c.8113G>C (p.Ala2705Pro)
c.8104G>C (p.Ala2702Pro)
c.8065G>C (p.Ala2689Pro)
c.8011G>C (p.Ala2671Pro)
c.7915G>C (p.Ala2639Pro)
c.7885G>C (p.Ala2629Pro)
c.7810G>C (p.Ala2604Pro)
c.7708G>C (p.Ala2570Pro)
c.7339G>C (p.Ala2447Pro)
 ClinVar dbSNP
5g.112843782G=CA1573476681APCc.8242G= (p.Ala2748=)
c.*8194G= (n.*8194G=)
c.8134G= (p.Ala2712=)
c.8188G= (p.Ala2730=)
c.231-12867G=
c.8218G= (p.Ala2740=)
c.8113G= (p.Ala2705=)
c.8104G= (p.Ala2702=)
c.8065G= (p.Ala2689=)
c.8011G= (p.Ala2671=)
c.7915G= (p.Ala2639=)
c.7885G= (p.Ala2629=)
c.7810G= (p.Ala2604=)
c.7708G= (p.Ala2570=)
c.7339G= (p.Ala2447=)
5g.112843782G>TCA16039107APCc.8242G>T (p.Ala2748Ser)
c.*8194G>T (n.*8194G>T)
c.8134G>T (p.Ala2712Ser)
c.8188G>T (p.Ala2730Ser)
c.231-12867G>T
c.8218G>T (p.Ala2740Ser)
c.8113G>T (p.Ala2705Ser)
c.8104G>T (p.Ala2702Ser)
c.8065G>T (p.Ala2689Ser)
c.8011G>T (p.Ala2671Ser)
c.7915G>T (p.Ala2639Ser)
c.7885G>T (p.Ala2629Ser)
c.7810G>T (p.Ala2604Ser)
c.7708G>T (p.Ala2570Ser)
c.7339G>T (p.Ala2447Ser)
 ClinVar dbSNP COSMIC
5g.112843783C>ACA16039108APCc.8243C>A (p.Ala2748Asp)
c.*8195C>A (n.*8195C>A)
c.8135C>A (p.Ala2712Asp)
c.8189C>A (p.Ala2730Asp)
c.231-12866C>A
c.8219C>A (p.Ala2740Asp)
c.8114C>A (p.Ala2705Asp)
c.8105C>A (p.Ala2702Asp)
c.8066C>A (p.Ala2689Asp)
c.8012C>A (p.Ala2671Asp)
c.7916C>A (p.Ala2639Asp)
c.7886C>A (p.Ala2629Asp)
c.7811C>A (p.Ala2604Asp)
c.7709C>A (p.Ala2570Asp)
c.7340C>A (p.Ala2447Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843783C=CA1573476697APCc.8243C= (p.Ala2748=)
c.*8195C= (n.*8195C=)
c.8135C= (p.Ala2712=)
c.8189C= (p.Ala2730=)
c.231-12866C=
c.8219C= (p.Ala2740=)
c.8114C= (p.Ala2705=)
c.8105C= (p.Ala2702=)
c.8066C= (p.Ala2689=)
c.8012C= (p.Ala2671=)
c.7916C= (p.Ala2639=)
c.7886C= (p.Ala2629=)
c.7811C= (p.Ala2604=)
c.7709C= (p.Ala2570=)
c.7340C= (p.Ala2447=)
5g.112843783C>GCA16039109APCc.8243C>G (p.Ala2748Gly)
c.*8195C>G (n.*8195C>G)
c.8135C>G (p.Ala2712Gly)
c.8189C>G (p.Ala2730Gly)
c.231-12866C>G
c.8219C>G (p.Ala2740Gly)
c.8114C>G (p.Ala2705Gly)
c.8105C>G (p.Ala2702Gly)
c.8066C>G (p.Ala2689Gly)
c.8012C>G (p.Ala2671Gly)
c.7916C>G (p.Ala2639Gly)
c.7886C>G (p.Ala2629Gly)
c.7811C>G (p.Ala2604Gly)
c.7709C>G (p.Ala2570Gly)
c.7340C>G (p.Ala2447Gly)
 ClinVar dbSNP
5g.112843783C>TCA16039110APCc.8243C>T (p.Ala2748Val)
c.*8195C>T (n.*8195C>T)
c.8135C>T (p.Ala2712Val)
c.8189C>T (p.Ala2730Val)
c.231-12866C>T
c.8219C>T (p.Ala2740Val)
c.8114C>T (p.Ala2705Val)
c.8105C>T (p.Ala2702Val)
c.8066C>T (p.Ala2689Val)
c.8012C>T (p.Ala2671Val)
c.7916C>T (p.Ala2639Val)
c.7886C>T (p.Ala2629Val)
c.7811C>T (p.Ala2604Val)
c.7709C>T (p.Ala2570Val)
c.7340C>T (p.Ala2447Val)
 ClinVar dbSNP gnomAD v4
5g.112843784C>ACA446211289APCc.8244C>A (p.Ala2748=)
c.*8196C>A (n.*8196C>A)
c.8136C>A (p.Ala2712=)
c.8190C>A (p.Ala2730=)
c.231-12865C>A
c.8220C>A (p.Ala2740=)
c.8115C>A (p.Ala2705=)
c.8106C>A (p.Ala2702=)
c.8067C>A (p.Ala2689=)
c.8013C>A (p.Ala2671=)
c.7917C>A (p.Ala2639=)
c.7887C>A (p.Ala2629=)
c.7812C>A (p.Ala2604=)
c.7710C>A (p.Ala2570=)
c.7341C>A (p.Ala2447=)
 dbSNP
5g.112843784C>GCA446211287APCc.8244C>G (p.Ala2748=)
c.*8196C>G (n.*8196C>G)
c.8136C>G (p.Ala2712=)
c.8190C>G (p.Ala2730=)
c.231-12865C>G
c.8220C>G (p.Ala2740=)
c.8115C>G (p.Ala2705=)
c.8106C>G (p.Ala2702=)
c.8067C>G (p.Ala2689=)
c.8013C>G (p.Ala2671=)
c.7917C>G (p.Ala2639=)
c.7887C>G (p.Ala2629=)
c.7812C>G (p.Ala2604=)
c.7710C>G (p.Ala2570=)
c.7341C>G (p.Ala2447=)
 ClinVar dbSNP
5g.112843784C>TCA446211288APCc.8244C>T (p.Ala2748=)
c.*8196C>T (n.*8196C>T)
c.8136C>T (p.Ala2712=)
c.8190C>T (p.Ala2730=)
c.231-12865C>T
c.8220C>T (p.Ala2740=)
c.8115C>T (p.Ala2705=)
c.8106C>T (p.Ala2702=)
c.8067C>T (p.Ala2689=)
c.8013C>T (p.Ala2671=)
c.7917C>T (p.Ala2639=)
c.7887C>T (p.Ala2629=)
c.7812C>T (p.Ala2604=)
c.7710C>T (p.Ala2570=)
c.7341C>T (p.Ala2447=)
 dbSNP
5g.112843785C>ACA16039111APCc.8245C>A (p.Pro2749Thr)
c.*8197C>A (n.*8197C>A)
c.8137C>A (p.Pro2713Thr)
c.8191C>A (p.Pro2731Thr)
c.231-12864C>A
c.8221C>A (p.Pro2741Thr)
c.8116C>A (p.Pro2706Thr)
c.8107C>A (p.Pro2703Thr)
c.8068C>A (p.Pro2690Thr)
c.8014C>A (p.Pro2672Thr)
c.7918C>A (p.Pro2640Thr)
c.7888C>A (p.Pro2630Thr)
c.7813C>A (p.Pro2605Thr)
c.7711C>A (p.Pro2571Thr)
c.7342C>A (p.Pro2448Thr)
 dbSNP
5g.112843785C=CA1573476704APCc.8245C= (p.Pro2749=)
c.*8197C= (n.*8197C=)
c.8137C= (p.Pro2713=)
c.8191C= (p.Pro2731=)
c.231-12864C=
c.8221C= (p.Pro2741=)
c.8116C= (p.Pro2706=)
c.8107C= (p.Pro2703=)
c.8068C= (p.Pro2690=)
c.8014C= (p.Pro2672=)
c.7918C= (p.Pro2640=)
c.7888C= (p.Pro2630=)
c.7813C= (p.Pro2605=)
c.7711C= (p.Pro2571=)
c.7342C= (p.Pro2448=)
5g.112843785C>GCA16039112APCc.8245C>G (p.Pro2749Ala)
c.*8197C>G (n.*8197C>G)
c.8137C>G (p.Pro2713Ala)
c.8191C>G (p.Pro2731Ala)
c.231-12864C>G
c.8221C>G (p.Pro2741Ala)
c.8116C>G (p.Pro2706Ala)
c.8107C>G (p.Pro2703Ala)
c.8068C>G (p.Pro2690Ala)
c.8014C>G (p.Pro2672Ala)
c.7918C>G (p.Pro2640Ala)
c.7888C>G (p.Pro2630Ala)
c.7813C>G (p.Pro2605Ala)
c.7711C>G (p.Pro2571Ala)
c.7342C>G (p.Pro2448Ala)
 ClinVar dbSNP
5g.112843785C>TCA050139APCc.8245C>T (p.Pro2749Ser)
c.*8197C>T (n.*8197C>T)
c.8137C>T (p.Pro2713Ser)
c.8191C>T (p.Pro2731Ser)
c.231-12864C>T
c.8221C>T (p.Pro2741Ser)
c.8116C>T (p.Pro2706Ser)
c.8107C>T (p.Pro2703Ser)
c.8068C>T (p.Pro2690Ser)
c.8014C>T (p.Pro2672Ser)
c.7918C>T (p.Pro2640Ser)
c.7888C>T (p.Pro2630Ser)
c.7813C>T (p.Pro2605Ser)
c.7711C>T (p.Pro2571Ser)
c.7342C>T (p.Pro2448Ser)
 ClinVar dbSNP ExAC gnomAD v4
5g.112843786C>ACA16039113APCc.8246C>A (p.Pro2749His)
c.*8198C>A (n.*8198C>A)
c.8138C>A (p.Pro2713His)
c.8192C>A (p.Pro2731His)
c.231-12863C>A
c.8222C>A (p.Pro2741His)
c.8117C>A (p.Pro2706His)
c.8108C>A (p.Pro2703His)
c.8069C>A (p.Pro2690His)
c.8015C>A (p.Pro2672His)
c.7919C>A (p.Pro2640His)
c.7889C>A (p.Pro2630His)
c.7814C>A (p.Pro2605His)
c.7712C>A (p.Pro2571His)
c.7343C>A (p.Pro2448His)
 dbSNP
5g.112843786C=CA1573476714APCc.8246C= (p.Pro2749=)
c.*8198C= (n.*8198C=)
c.8138C= (p.Pro2713=)
c.8192C= (p.Pro2731=)
c.231-12863C=
c.8222C= (p.Pro2741=)
c.8117C= (p.Pro2706=)
c.8108C= (p.Pro2703=)
c.8069C= (p.Pro2690=)
c.8015C= (p.Pro2672=)
c.7919C= (p.Pro2640=)
c.7889C= (p.Pro2630=)
c.7814C= (p.Pro2605=)
c.7712C= (p.Pro2571=)
c.7343C= (p.Pro2448=)
5g.112843786C>GCA16039114APCc.8246C>G (p.Pro2749Arg)
c.*8198C>G (n.*8198C>G)
c.8138C>G (p.Pro2713Arg)
c.8192C>G (p.Pro2731Arg)
c.231-12863C>G
c.8222C>G (p.Pro2741Arg)
c.8117C>G (p.Pro2706Arg)
c.8108C>G (p.Pro2703Arg)
c.8069C>G (p.Pro2690Arg)
c.8015C>G (p.Pro2672Arg)
c.7919C>G (p.Pro2640Arg)
c.7889C>G (p.Pro2630Arg)
c.7814C>G (p.Pro2605Arg)
c.7712C>G (p.Pro2571Arg)
c.7343C>G (p.Pro2448Arg)
 dbSNP
5g.112843786C>TCA16039115APCc.8246C>T (p.Pro2749Leu)
c.*8198C>T (n.*8198C>T)
c.8138C>T (p.Pro2713Leu)
c.8192C>T (p.Pro2731Leu)
c.231-12863C>T
c.8222C>T (p.Pro2741Leu)
c.8117C>T (p.Pro2706Leu)
c.8108C>T (p.Pro2703Leu)
c.8069C>T (p.Pro2690Leu)
c.8015C>T (p.Pro2672Leu)
c.7919C>T (p.Pro2640Leu)
c.7889C>T (p.Pro2630Leu)
c.7814C>T (p.Pro2605Leu)
c.7712C>T (p.Pro2571Leu)
c.7343C>T (p.Pro2448Leu)
 ClinVar dbSNP COSMIC
5g.112843787T>ACA446211290APCc.8247T>A (p.Pro2749=)
c.*8199T>A (n.*8199T>A)
c.8139T>A (p.Pro2713=)
c.8193T>A (p.Pro2731=)
c.231-12862T>A
c.8223T>A (p.Pro2741=)
c.8118T>A (p.Pro2706=)
c.8109T>A (p.Pro2703=)
c.8070T>A (p.Pro2690=)
c.8016T>A (p.Pro2672=)
c.7920T>A (p.Pro2640=)
c.7890T>A (p.Pro2630=)
c.7815T>A (p.Pro2605=)
c.7713T>A (p.Pro2571=)
c.7344T>A (p.Pro2448=)
5g.112843787T>CCA446211291APCc.8247T>C (p.Pro2749=)
c.*8199T>C (n.*8199T>C)
c.8139T>C (p.Pro2713=)
c.8193T>C (p.Pro2731=)
c.231-12862T>C
c.8223T>C (p.Pro2741=)
c.8118T>C (p.Pro2706=)
c.8109T>C (p.Pro2703=)
c.8070T>C (p.Pro2690=)
c.8016T>C (p.Pro2672=)
c.7920T>C (p.Pro2640=)
c.7890T>C (p.Pro2630=)
c.7815T>C (p.Pro2605=)
c.7713T>C (p.Pro2571=)
c.7344T>C (p.Pro2448=)
 dbSNP
5g.112843787T>GCA446211292APCc.8247T>G (p.Pro2749=)
c.*8199T>G (n.*8199T>G)
c.8139T>G (p.Pro2713=)
c.8193T>G (p.Pro2731=)
c.231-12862T>G
c.8223T>G (p.Pro2741=)
c.8118T>G (p.Pro2706=)
c.8109T>G (p.Pro2703=)
c.8070T>G (p.Pro2690=)
c.8016T>G (p.Pro2672=)
c.7920T>G (p.Pro2640=)
c.7890T>G (p.Pro2630=)
c.7815T>G (p.Pro2605=)
c.7713T>G (p.Pro2571=)
c.7344T>G (p.Pro2448=)
5g.112843788G>ACA16039116APCc.8248G>A (p.Asp2750Asn)
c.*8200G>A (n.*8200G>A)
c.8140G>A (p.Asp2714Asn)
c.8194G>A (p.Asp2732Asn)
c.231-12861G>A
c.8224G>A (p.Asp2742Asn)
c.8119G>A (p.Asp2707Asn)
c.8110G>A (p.Asp2704Asn)
c.8071G>A (p.Asp2691Asn)
c.8017G>A (p.Asp2673Asn)
c.7921G>A (p.Asp2641Asn)
c.7891G>A (p.Asp2631Asn)
c.7816G>A (p.Asp2606Asn)
c.7714G>A (p.Asp2572Asn)
c.7345G>A (p.Asp2449Asn)
 dbSNP
5g.112843788G>CCA16039117APCc.8248G>C (p.Asp2750His)
c.*8200G>C (n.*8200G>C)
c.8140G>C (p.Asp2714His)
c.8194G>C (p.Asp2732His)
c.231-12861G>C
c.8224G>C (p.Asp2742His)
c.8119G>C (p.Asp2707His)
c.8110G>C (p.Asp2704His)
c.8071G>C (p.Asp2691His)
c.8017G>C (p.Asp2673His)
c.7921G>C (p.Asp2641His)
c.7891G>C (p.Asp2631His)
c.7816G>C (p.Asp2606His)
c.7714G>C (p.Asp2572His)
c.7345G>C (p.Asp2449His)
 dbSNP
5g.112843788G>TCA16039118APCc.8248G>T (p.Asp2750Tyr)
c.*8200G>T (n.*8200G>T)
c.8140G>T (p.Asp2714Tyr)
c.8194G>T (p.Asp2732Tyr)
c.231-12861G>T
c.8224G>T (p.Asp2742Tyr)
c.8119G>T (p.Asp2707Tyr)
c.8110G>T (p.Asp2704Tyr)
c.8071G>T (p.Asp2691Tyr)
c.8017G>T (p.Asp2673Tyr)
c.7921G>T (p.Asp2641Tyr)
c.7891G>T (p.Asp2631Tyr)
c.7816G>T (p.Asp2606Tyr)
c.7714G>T (p.Asp2572Tyr)
c.7345G>T (p.Asp2449Tyr)
 dbSNP
5g.112843789A>CCA16039119APCc.8249A>C (p.Asp2750Ala)
c.*8201A>C (n.*8201A>C)
c.8141A>C (p.Asp2714Ala)
c.8195A>C (p.Asp2732Ala)
c.231-12860A>C
c.8225A>C (p.Asp2742Ala)
c.8120A>C (p.Asp2707Ala)
c.8111A>C (p.Asp2704Ala)
c.8072A>C (p.Asp2691Ala)
c.8018A>C (p.Asp2673Ala)
c.7922A>C (p.Asp2641Ala)
c.7892A>C (p.Asp2631Ala)
c.7817A>C (p.Asp2606Ala)
c.7715A>C (p.Asp2572Ala)
c.7346A>C (p.Asp2449Ala)
 dbSNP
5g.112843789A>GCA16039120APCc.8249A>G (p.Asp2750Gly)
c.*8201A>G (n.*8201A>G)
c.8141A>G (p.Asp2714Gly)
c.8195A>G (p.Asp2732Gly)
c.231-12860A>G
c.8225A>G (p.Asp2742Gly)
c.8120A>G (p.Asp2707Gly)
c.8111A>G (p.Asp2704Gly)
c.8072A>G (p.Asp2691Gly)
c.8018A>G (p.Asp2673Gly)
c.7922A>G (p.Asp2641Gly)
c.7892A>G (p.Asp2631Gly)
c.7817A>G (p.Asp2606Gly)
c.7715A>G (p.Asp2572Gly)
c.7346A>G (p.Asp2449Gly)
 dbSNP
5g.112843789A>TCA16039121APCc.8249A>T (p.Asp2750Val)
c.*8201A>T (n.*8201A>T)
c.8141A>T (p.Asp2714Val)
c.8195A>T (p.Asp2732Val)
c.231-12860A>T
c.8225A>T (p.Asp2742Val)
c.8120A>T (p.Asp2707Val)
c.8111A>T (p.Asp2704Val)
c.8072A>T (p.Asp2691Val)
c.8018A>T (p.Asp2673Val)
c.7922A>T (p.Asp2641Val)
c.7892A>T (p.Asp2631Val)
c.7817A>T (p.Asp2606Val)
c.7715A>T (p.Asp2572Val)
c.7346A>T (p.Asp2449Val)
 dbSNP
5g.112843790C>ACA16039122APCc.8250C>A (p.Asp2750Glu)
c.*8202C>A (n.*8202C>A)
c.8142C>A (p.Asp2714Glu)
c.8196C>A (p.Asp2732Glu)
c.231-12859C>A
c.8226C>A (p.Asp2742Glu)
c.8121C>A (p.Asp2707Glu)
c.8112C>A (p.Asp2704Glu)
c.8073C>A (p.Asp2691Glu)
c.8019C>A (p.Asp2673Glu)
c.7923C>A (p.Asp2641Glu)
c.7893C>A (p.Asp2631Glu)
c.7818C>A (p.Asp2606Glu)
c.7716C>A (p.Asp2572Glu)
c.7347C>A (p.Asp2449Glu)
 ClinVar dbSNP gnomAD v4
5g.112843790C=CA1573476720APCc.8250C= (p.Asp2750=)
c.*8202C= (n.*8202C=)
c.8142C= (p.Asp2714=)
c.8196C= (p.Asp2732=)
c.231-12859C=
c.8226C= (p.Asp2742=)
c.8121C= (p.Asp2707=)
c.8112C= (p.Asp2704=)
c.8073C= (p.Asp2691=)
c.8019C= (p.Asp2673=)
c.7923C= (p.Asp2641=)
c.7893C= (p.Asp2631=)
c.7818C= (p.Asp2606=)
c.7716C= (p.Asp2572=)
c.7347C= (p.Asp2449=)
5g.112843790C>GCA16039123APCc.8250C>G (p.Asp2750Glu)
c.*8202C>G (n.*8202C>G)
c.8142C>G (p.Asp2714Glu)
c.8196C>G (p.Asp2732Glu)
c.231-12859C>G
c.8226C>G (p.Asp2742Glu)
c.8121C>G (p.Asp2707Glu)
c.8112C>G (p.Asp2704Glu)
c.8073C>G (p.Asp2691Glu)
c.8019C>G (p.Asp2673Glu)
c.7923C>G (p.Asp2641Glu)
c.7893C>G (p.Asp2631Glu)
c.7818C>G (p.Asp2606Glu)
c.7716C>G (p.Asp2572Glu)
c.7347C>G (p.Asp2449Glu)
 dbSNP
5g.112843790C>TCA446211293APCc.8250C>T (p.Asp2750=)
c.*8202C>T (n.*8202C>T)
c.8142C>T (p.Asp2714=)
c.8196C>T (p.Asp2732=)
c.231-12859C>T
c.8226C>T (p.Asp2742=)
c.8121C>T (p.Asp2707=)
c.8112C>T (p.Asp2704=)
c.8073C>T (p.Asp2691=)
c.8019C>T (p.Asp2673=)
c.7923C>T (p.Asp2641=)
c.7893C>T (p.Asp2631=)
c.7818C>T (p.Asp2606=)
c.7716C>T (p.Asp2572=)
c.7347C>T (p.Asp2449=)
 ClinVar dbSNP gnomAD v4
5g.112843791C>ACA16039124APCc.8251C>A (p.Gln2751Lys)
c.*8203C>A (n.*8203C>A)
c.8143C>A (p.Gln2715Lys)
c.8197C>A (p.Gln2733Lys)
c.231-12858C>A
c.8227C>A (p.Gln2743Lys)
c.8122C>A (p.Gln2708Lys)
c.8113C>A (p.Gln2705Lys)
c.8074C>A (p.Gln2692Lys)
c.8020C>A (p.Gln2674Lys)
c.7924C>A (p.Gln2642Lys)
c.7894C>A (p.Gln2632Lys)
c.7819C>A (p.Gln2607Lys)
c.7717C>A (p.Gln2573Lys)
c.7348C>A (p.Gln2450Lys)
 ClinVar
5g.112843791C=CA1573476726APCc.8251C= (p.Gln2751=)
c.*8203C= (n.*8203C=)
c.8143C= (p.Gln2715=)
c.8197C= (p.Gln2733=)
c.231-12858C=
c.8227C= (p.Gln2743=)
c.8122C= (p.Gln2708=)
c.8113C= (p.Gln2705=)
c.8074C= (p.Gln2692=)
c.8020C= (p.Gln2674=)
c.7924C= (p.Gln2642=)
c.7894C= (p.Gln2632=)
c.7819C= (p.Gln2607=)
c.7717C= (p.Gln2573=)
c.7348C= (p.Gln2450=)
5g.112843791C>GCA16039125APCc.8251C>G (p.Gln2751Glu)
c.*8203C>G (n.*8203C>G)
c.8143C>G (p.Gln2715Glu)
c.8197C>G (p.Gln2733Glu)
c.231-12858C>G
c.8227C>G (p.Gln2743Glu)
c.8122C>G (p.Gln2708Glu)
c.8113C>G (p.Gln2705Glu)
c.8074C>G (p.Gln2692Glu)
c.8020C>G (p.Gln2674Glu)
c.7924C>G (p.Gln2642Glu)
c.7894C>G (p.Gln2632Glu)
c.7819C>G (p.Gln2607Glu)
c.7717C>G (p.Gln2573Glu)
c.7348C>G (p.Gln2450Glu)
 ClinVar dbSNP
5g.112843791C>TCA16039126APCc.8251C>T (p.Gln2751Ter)
c.*8203C>T (n.*8203C>T)
c.8143C>T (p.Gln2715Ter)
c.8197C>T (p.Gln2733Ter)
c.231-12858C>T
c.8227C>T (p.Gln2743Ter)
c.8122C>T (p.Gln2708Ter)
c.8113C>T (p.Gln2705Ter)
c.8074C>T (p.Gln2692Ter)
c.8020C>T (p.Gln2674Ter)
c.7924C>T (p.Gln2642Ter)
c.7894C>T (p.Gln2632Ter)
c.7819C>T (p.Gln2607Ter)
c.7717C>T (p.Gln2573Ter)
c.7348C>T (p.Gln2450Ter)
 ClinVar
5g.112843792A>CCA16039127APCc.8252A>C (p.Gln2751Pro)
c.*8204A>C (n.*8204A>C)
c.8144A>C (p.Gln2715Pro)
c.8198A>C (p.Gln2733Pro)
c.231-12857A>C
c.8228A>C (p.Gln2743Pro)
c.8123A>C (p.Gln2708Pro)
c.8114A>C (p.Gln2705Pro)
c.8075A>C (p.Gln2692Pro)
c.8021A>C (p.Gln2674Pro)
c.7925A>C (p.Gln2642Pro)
c.7895A>C (p.Gln2632Pro)
c.7820A>C (p.Gln2607Pro)
c.7718A>C (p.Gln2573Pro)
c.7349A>C (p.Gln2450Pro)
 dbSNP
5g.112843792A>GCA16039128APCc.8252A>G (p.Gln2751Arg)
c.*8204A>G (n.*8204A>G)
c.8144A>G (p.Gln2715Arg)
c.8198A>G (p.Gln2733Arg)
c.231-12857A>G
c.8228A>G (p.Gln2743Arg)
c.8123A>G (p.Gln2708Arg)
c.8114A>G (p.Gln2705Arg)
c.8075A>G (p.Gln2692Arg)
c.8021A>G (p.Gln2674Arg)
c.7925A>G (p.Gln2642Arg)
c.7895A>G (p.Gln2632Arg)
c.7820A>G (p.Gln2607Arg)
c.7718A>G (p.Gln2573Arg)
c.7349A>G (p.Gln2450Arg)
5g.112843792A>TCA16039129APCc.8252A>T (p.Gln2751Leu)
c.*8204A>T (n.*8204A>T)
c.8144A>T (p.Gln2715Leu)
c.8198A>T (p.Gln2733Leu)
c.231-12857A>T
c.8228A>T (p.Gln2743Leu)
c.8123A>T (p.Gln2708Leu)
c.8114A>T (p.Gln2705Leu)
c.8075A>T (p.Gln2692Leu)
c.8021A>T (p.Gln2674Leu)
c.7925A>T (p.Gln2642Leu)
c.7895A>T (p.Gln2632Leu)
c.7820A>T (p.Gln2607Leu)
c.7718A>T (p.Gln2573Leu)
c.7349A>T (p.Gln2450Leu)
 dbSNP
5g.112843793A=CA1573476751APCc.8253A= (p.Gln2751=)
c.*8205A= (n.*8205A=)
c.8145A= (p.Gln2715=)
c.8199A= (p.Gln2733=)
c.231-12856A=
c.8229A= (p.Gln2743=)
c.8124A= (p.Gln2708=)
c.8115A= (p.Gln2705=)
c.8076A= (p.Gln2692=)
c.8022A= (p.Gln2674=)
c.7926A= (p.Gln2642=)
c.7896A= (p.Gln2632=)
c.7821A= (p.Gln2607=)
c.7719A= (p.Gln2573=)
c.7350A= (p.Gln2450=)
5g.112843793A>CCA16039130APCc.8253A>C (p.Gln2751His)
c.*8205A>C (n.*8205A>C)
c.8145A>C (p.Gln2715His)
c.8199A>C (p.Gln2733His)
c.231-12856A>C
c.8229A>C (p.Gln2743His)
c.8124A>C (p.Gln2708His)
c.8115A>C (p.Gln2705His)
c.8076A>C (p.Gln2692His)
c.8022A>C (p.Gln2674His)
c.7926A>C (p.Gln2642His)
c.7896A>C (p.Gln2632His)
c.7821A>C (p.Gln2607His)
c.7719A>C (p.Gln2573His)
c.7350A>C (p.Gln2450His)
5g.112843793A>GCA050150APCc.8253A>G (p.Gln2751=)
c.*8205A>G (n.*8205A>G)
c.8145A>G (p.Gln2715=)
c.8199A>G (p.Gln2733=)
c.231-12856A>G
c.8229A>G (p.Gln2743=)
c.8124A>G (p.Gln2708=)
c.8115A>G (p.Gln2705=)
c.8076A>G (p.Gln2692=)
c.8022A>G (p.Gln2674=)
c.7926A>G (p.Gln2642=)
c.7896A>G (p.Gln2632=)
c.7821A>G (p.Gln2607=)
c.7719A>G (p.Gln2573=)
c.7350A>G (p.Gln2450=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843793A>TCA16039131APCc.8253A>T (p.Gln2751His)
c.*8205A>T (n.*8205A>T)
c.8145A>T (p.Gln2715His)
c.8199A>T (p.Gln2733His)
c.231-12856A>T
c.8229A>T (p.Gln2743His)
c.8124A>T (p.Gln2708His)
c.8115A>T (p.Gln2705His)
c.8076A>T (p.Gln2692His)
c.8022A>T (p.Gln2674His)
c.7926A>T (p.Gln2642His)
c.7896A>T (p.Gln2632His)
c.7821A>T (p.Gln2607His)
c.7719A>T (p.Gln2573His)
c.7350A>T (p.Gln2450His)
 dbSNP
5g.112843794A>CCA16039132APCc.8254A>C (p.Lys2752Gln)
c.*8206A>C (n.*8206A>C)
c.8146A>C (p.Lys2716Gln)
c.8200A>C (p.Lys2734Gln)
c.231-12855A>C
c.8230A>C (p.Lys2744Gln)
c.8125A>C (p.Lys2709Gln)
c.8116A>C (p.Lys2706Gln)
c.8077A>C (p.Lys2693Gln)
c.8023A>C (p.Lys2675Gln)
c.7927A>C (p.Lys2643Gln)
c.7897A>C (p.Lys2633Gln)
c.7822A>C (p.Lys2608Gln)
c.7720A>C (p.Lys2574Gln)
c.7351A>C (p.Lys2451Gln)
 ClinVar
5g.112843794A>GCA16039133APCc.8254A>G (p.Lys2752Glu)
c.*8206A>G (n.*8206A>G)
c.8146A>G (p.Lys2716Glu)
c.8200A>G (p.Lys2734Glu)
c.231-12855A>G
c.8230A>G (p.Lys2744Glu)
c.8125A>G (p.Lys2709Glu)
c.8116A>G (p.Lys2706Glu)
c.8077A>G (p.Lys2693Glu)
c.8023A>G (p.Lys2675Glu)
c.7927A>G (p.Lys2643Glu)
c.7897A>G (p.Lys2633Glu)
c.7822A>G (p.Lys2608Glu)
c.7720A>G (p.Lys2574Glu)
c.7351A>G (p.Lys2451Glu)
5g.112843794A>TCA16039134APCc.8254A>T (p.Lys2752Ter)
c.*8206A>T (n.*8206A>T)
c.8146A>T (p.Lys2716Ter)
c.8200A>T (p.Lys2734Ter)
c.231-12855A>T
c.8230A>T (p.Lys2744Ter)
c.8125A>T (p.Lys2709Ter)
c.8116A>T (p.Lys2706Ter)
c.8077A>T (p.Lys2693Ter)
c.8023A>T (p.Lys2675Ter)
c.7927A>T (p.Lys2643Ter)
c.7897A>T (p.Lys2633Ter)
c.7822A>T (p.Lys2608Ter)
c.7720A>T (p.Lys2574Ter)
c.7351A>T (p.Lys2451Ter)
 dbSNP
5g.112843795A>CCA16039135APCc.8255A>C (p.Lys2752Thr)
c.*8207A>C (n.*8207A>C)
c.8147A>C (p.Lys2716Thr)
c.8201A>C (p.Lys2734Thr)
c.231-12854A>C
c.8231A>C (p.Lys2744Thr)
c.8126A>C (p.Lys2709Thr)
c.8117A>C (p.Lys2706Thr)
c.8078A>C (p.Lys2693Thr)
c.8024A>C (p.Lys2675Thr)
c.7928A>C (p.Lys2643Thr)
c.7898A>C (p.Lys2633Thr)
c.7823A>C (p.Lys2608Thr)
c.7721A>C (p.Lys2574Thr)
c.7352A>C (p.Lys2451Thr)
5g.112843795A>GCA16039136APCc.8255A>G (p.Lys2752Arg)
c.*8207A>G (n.*8207A>G)
c.8147A>G (p.Lys2716Arg)
c.8201A>G (p.Lys2734Arg)
c.231-12854A>G
c.8231A>G (p.Lys2744Arg)
c.8126A>G (p.Lys2709Arg)
c.8117A>G (p.Lys2706Arg)
c.8078A>G (p.Lys2693Arg)
c.8024A>G (p.Lys2675Arg)
c.7928A>G (p.Lys2643Arg)
c.7898A>G (p.Lys2633Arg)
c.7823A>G (p.Lys2608Arg)
c.7721A>G (p.Lys2574Arg)
c.7352A>G (p.Lys2451Arg)
 dbSNP
5g.112843795A>TCA16039137APCc.8255A>T (p.Lys2752Ile)
c.*8207A>T (n.*8207A>T)
c.8147A>T (p.Lys2716Ile)
c.8201A>T (p.Lys2734Ile)
c.231-12854A>T
c.8231A>T (p.Lys2744Ile)
c.8126A>T (p.Lys2709Ile)
c.8117A>T (p.Lys2706Ile)
c.8078A>T (p.Lys2693Ile)
c.8024A>T (p.Lys2675Ile)
c.7928A>T (p.Lys2643Ile)
c.7898A>T (p.Lys2633Ile)
c.7823A>T (p.Lys2608Ile)
c.7721A>T (p.Lys2574Ile)
c.7352A>T (p.Lys2451Ile)
 dbSNP
5g.112843796A>CCA16039138APCc.8256A>C (p.Lys2752Asn)
c.*8208A>C (n.*8208A>C)
c.8148A>C (p.Lys2716Asn)
c.8202A>C (p.Lys2734Asn)
c.231-12853A>C
c.8232A>C (p.Lys2744Asn)
c.8127A>C (p.Lys2709Asn)
c.8118A>C (p.Lys2706Asn)
c.8079A>C (p.Lys2693Asn)
c.8025A>C (p.Lys2675Asn)
c.7929A>C (p.Lys2643Asn)
c.7899A>C (p.Lys2633Asn)
c.7824A>C (p.Lys2608Asn)
c.7722A>C (p.Lys2574Asn)
c.7353A>C (p.Lys2451Asn)
 ClinVar gnomAD v4
5g.112843796A>GCA446211294APCc.8256A>G (p.Lys2752=)
c.*8208A>G (n.*8208A>G)
c.8148A>G (p.Lys2716=)
c.8202A>G (p.Lys2734=)
c.231-12853A>G
c.8232A>G (p.Lys2744=)
c.8127A>G (p.Lys2709=)
c.8118A>G (p.Lys2706=)
c.8079A>G (p.Lys2693=)
c.8025A>G (p.Lys2675=)
c.7929A>G (p.Lys2643=)
c.7899A>G (p.Lys2633=)
c.7824A>G (p.Lys2608=)
c.7722A>G (p.Lys2574=)
c.7353A>G (p.Lys2451=)
 ClinVar dbSNP
5g.112843796A>TCA16039139APCc.8256A>T (p.Lys2752Asn)
c.*8208A>T (n.*8208A>T)
c.8148A>T (p.Lys2716Asn)
c.8202A>T (p.Lys2734Asn)
c.231-12853A>T
c.8232A>T (p.Lys2744Asn)
c.8127A>T (p.Lys2709Asn)
c.8118A>T (p.Lys2706Asn)
c.8079A>T (p.Lys2693Asn)
c.8025A>T (p.Lys2675Asn)
c.7929A>T (p.Lys2643Asn)
c.7899A>T (p.Lys2633Asn)
c.7824A>T (p.Lys2608Asn)
c.7722A>T (p.Lys2574Asn)
c.7353A>T (p.Lys2451Asn)
 dbSNP
5g.112843797G>ACA050179APCc.8257G>A (p.Gly2753Arg)
c.*8209G>A (n.*8209G>A)
c.8149G>A (p.Gly2717Arg)
c.8203G>A (p.Gly2735Arg)
c.231-12852G>A
c.8233G>A (p.Gly2745Arg)
c.8128G>A (p.Gly2710Arg)
c.8119G>A (p.Gly2707Arg)
c.8080G>A (p.Gly2694Arg)
c.8026G>A (p.Gly2676Arg)
c.7930G>A (p.Gly2644Arg)
c.7900G>A (p.Gly2634Arg)
c.7825G>A (p.Gly2609Arg)
c.7723G>A (p.Gly2575Arg)
c.7354G>A (p.Gly2452Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843797G>CCA10582342APCc.8257G>C (p.Gly2753Arg)
c.*8209G>C (n.*8209G>C)
c.8149G>C (p.Gly2717Arg)
c.8203G>C (p.Gly2735Arg)
c.231-12852G>C
c.8233G>C (p.Gly2745Arg)
c.8128G>C (p.Gly2710Arg)
c.8119G>C (p.Gly2707Arg)
c.8080G>C (p.Gly2694Arg)
c.8026G>C (p.Gly2676Arg)
c.7930G>C (p.Gly2644Arg)
c.7900G>C (p.Gly2634Arg)
c.7825G>C (p.Gly2609Arg)
c.7723G>C (p.Gly2575Arg)
c.7354G>C (p.Gly2452Arg)
 ClinVar dbSNP
5g.112843797G=CA1573476766APCc.8257G= (p.Gly2753=)
c.*8209G= (n.*8209G=)
c.8149G= (p.Gly2717=)
c.8203G= (p.Gly2735=)
c.231-12852G=
c.8233G= (p.Gly2745=)
c.8128G= (p.Gly2710=)
c.8119G= (p.Gly2707=)
c.8080G= (p.Gly2694=)
c.8026G= (p.Gly2676=)
c.7930G= (p.Gly2644=)
c.7900G= (p.Gly2634=)
c.7825G= (p.Gly2609=)
c.7723G= (p.Gly2575=)
c.7354G= (p.Gly2452=)
5g.112843797G>TCA16039140APCc.8257G>T (p.Gly2753Ter)
c.*8209G>T (n.*8209G>T)
c.8149G>T (p.Gly2717Ter)
c.8203G>T (p.Gly2735Ter)
c.231-12852G>T
c.8233G>T (p.Gly2745Ter)
c.8128G>T (p.Gly2710Ter)
c.8119G>T (p.Gly2707Ter)
c.8080G>T (p.Gly2694Ter)
c.8026G>T (p.Gly2676Ter)
c.7930G>T (p.Gly2644Ter)
c.7900G>T (p.Gly2634Ter)
c.7825G>T (p.Gly2609Ter)
c.7723G>T (p.Gly2575Ter)
c.7354G>T (p.Gly2452Ter)
 dbSNP
5g.112843798G>ACA16039141APCc.8258G>A (p.Gly2753Glu)
c.*8210G>A (n.*8210G>A)
c.8150G>A (p.Gly2717Glu)
c.8204G>A (p.Gly2735Glu)
c.231-12851G>A
c.8234G>A (p.Gly2745Glu)
c.8129G>A (p.Gly2710Glu)
c.8120G>A (p.Gly2707Glu)
c.8081G>A (p.Gly2694Glu)
c.8027G>A (p.Gly2676Glu)
c.7931G>A (p.Gly2644Glu)
c.7901G>A (p.Gly2634Glu)
c.7826G>A (p.Gly2609Glu)
c.7724G>A (p.Gly2575Glu)
c.7355G>A (p.Gly2452Glu)
 ClinVar dbSNP
5g.112843798G>CCA16039142APCc.8258G>C (p.Gly2753Ala)
c.*8210G>C (n.*8210G>C)
c.8150G>C (p.Gly2717Ala)
c.8204G>C (p.Gly2735Ala)
c.231-12851G>C
c.8234G>C (p.Gly2745Ala)
c.8129G>C (p.Gly2710Ala)
c.8120G>C (p.Gly2707Ala)
c.8081G>C (p.Gly2694Ala)
c.8027G>C (p.Gly2676Ala)
c.7931G>C (p.Gly2644Ala)
c.7901G>C (p.Gly2634Ala)
c.7826G>C (p.Gly2609Ala)
c.7724G>C (p.Gly2575Ala)
c.7355G>C (p.Gly2452Ala)
 dbSNP
5g.112843798G>TCA16039143APCc.8258G>T (p.Gly2753Val)
c.*8210G>T (n.*8210G>T)
c.8150G>T (p.Gly2717Val)
c.8204G>T (p.Gly2735Val)
c.231-12851G>T
c.8234G>T (p.Gly2745Val)
c.8129G>T (p.Gly2710Val)
c.8120G>T (p.Gly2707Val)
c.8081G>T (p.Gly2694Val)
c.8027G>T (p.Gly2676Val)
c.7931G>T (p.Gly2644Val)
c.7901G>T (p.Gly2634Val)
c.7826G>T (p.Gly2609Val)
c.7724G>T (p.Gly2575Val)
c.7355G>T (p.Gly2452Val)
 dbSNP
5g.112843799A>CCA446211295APCc.8259A>C (p.Gly2753=)
c.*8211A>C (n.*8211A>C)
c.8151A>C (p.Gly2717=)
c.8205A>C (p.Gly2735=)
c.231-12850A>C
c.8235A>C (p.Gly2745=)
c.8130A>C (p.Gly2710=)
c.8121A>C (p.Gly2707=)
c.8082A>C (p.Gly2694=)
c.8028A>C (p.Gly2676=)
c.7932A>C (p.Gly2644=)
c.7902A>C (p.Gly2634=)
c.7827A>C (p.Gly2609=)
c.7725A>C (p.Gly2575=)
c.7356A>C (p.Gly2452=)
5g.112843799A>GCA446211296APCc.8259A>G (p.Gly2753=)
c.*8211A>G (n.*8211A>G)
c.8151A>G (p.Gly2717=)
c.8205A>G (p.Gly2735=)
c.231-12850A>G
c.8235A>G (p.Gly2745=)
c.8130A>G (p.Gly2710=)
c.8121A>G (p.Gly2707=)
c.8082A>G (p.Gly2694=)
c.8028A>G (p.Gly2676=)
c.7932A>G (p.Gly2644=)
c.7902A>G (p.Gly2634=)
c.7827A>G (p.Gly2609=)
c.7725A>G (p.Gly2575=)
c.7356A>G (p.Gly2452=)
5g.112843799A>TCA446211297APCc.8259A>T (p.Gly2753=)
c.*8211A>T (n.*8211A>T)
c.8151A>T (p.Gly2717=)
c.8205A>T (p.Gly2735=)
c.231-12850A>T
c.8235A>T (p.Gly2745=)
c.8130A>T (p.Gly2710=)
c.8121A>T (p.Gly2707=)
c.8082A>T (p.Gly2694=)
c.8028A>T (p.Gly2676=)
c.7932A>T (p.Gly2644=)
c.7902A>T (p.Gly2634=)
c.7827A>T (p.Gly2609=)
c.7725A>T (p.Gly2575=)
c.7356A>T (p.Gly2452=)
 dbSNP
5g.112843800A=CA1573476771APCc.8260A= (p.Thr2754=)
c.*8212A= (n.*8212A=)
c.8152A= (p.Thr2718=)
c.8206A= (p.Thr2736=)
c.231-12849A=
c.8236A= (p.Thr2746=)
c.8131A= (p.Thr2711=)
c.8122A= (p.Thr2708=)
c.8083A= (p.Thr2695=)
c.8029A= (p.Thr2677=)
c.7933A= (p.Thr2645=)
c.7903A= (p.Thr2635=)
c.7828A= (p.Thr2610=)
c.7726A= (p.Thr2576=)
c.7357A= (p.Thr2453=)
5g.112843800A>CCA16039144APCc.8260A>C (p.Thr2754Pro)
c.*8212A>C (n.*8212A>C)
c.8152A>C (p.Thr2718Pro)
c.8206A>C (p.Thr2736Pro)
c.231-12849A>C
c.8236A>C (p.Thr2746Pro)
c.8131A>C (p.Thr2711Pro)
c.8122A>C (p.Thr2708Pro)
c.8083A>C (p.Thr2695Pro)
c.8029A>C (p.Thr2677Pro)
c.7933A>C (p.Thr2645Pro)
c.7903A>C (p.Thr2635Pro)
c.7828A>C (p.Thr2610Pro)
c.7726A>C (p.Thr2576Pro)
c.7357A>C (p.Thr2453Pro)
5g.112843800A>GCA16039145APCc.8260A>G (p.Thr2754Ala)
c.*8212A>G (n.*8212A>G)
c.8152A>G (p.Thr2718Ala)
c.8206A>G (p.Thr2736Ala)
c.231-12849A>G
c.8236A>G (p.Thr2746Ala)
c.8131A>G (p.Thr2711Ala)
c.8122A>G (p.Thr2708Ala)
c.8083A>G (p.Thr2695Ala)
c.8029A>G (p.Thr2677Ala)
c.7933A>G (p.Thr2645Ala)
c.7903A>G (p.Thr2635Ala)
c.7828A>G (p.Thr2610Ala)
c.7726A>G (p.Thr2576Ala)
c.7357A>G (p.Thr2453Ala)
 ClinVar dbSNP gnomAD v4
5g.112843800A>TCA16039146APCc.8260A>T (p.Thr2754Ser)
c.*8212A>T (n.*8212A>T)
c.8152A>T (p.Thr2718Ser)
c.8206A>T (p.Thr2736Ser)
c.231-12849A>T
c.8236A>T (p.Thr2746Ser)
c.8131A>T (p.Thr2711Ser)
c.8122A>T (p.Thr2708Ser)
c.8083A>T (p.Thr2695Ser)
c.8029A>T (p.Thr2677Ser)
c.7933A>T (p.Thr2645Ser)
c.7903A>T (p.Thr2635Ser)
c.7828A>T (p.Thr2610Ser)
c.7726A>T (p.Thr2576Ser)
c.7357A>T (p.Thr2453Ser)
 dbSNP
5g.112843801C>ACA16039147APCc.8261C>A (p.Thr2754Asn)
c.*8213C>A (n.*8213C>A)
c.8153C>A (p.Thr2718Asn)
c.8207C>A (p.Thr2736Asn)
c.231-12848C>A
c.8237C>A (p.Thr2746Asn)
c.8132C>A (p.Thr2711Asn)
c.8123C>A (p.Thr2708Asn)
c.8084C>A (p.Thr2695Asn)
c.8030C>A (p.Thr2677Asn)
c.7934C>A (p.Thr2645Asn)
c.7904C>A (p.Thr2635Asn)
c.7829C>A (p.Thr2610Asn)
c.7727C>A (p.Thr2576Asn)
c.7358C>A (p.Thr2453Asn)
 dbSNP
5g.112843801C=CA1573476779APCc.8261C= (p.Thr2754=)
c.*8213C= (n.*8213C=)
c.8153C= (p.Thr2718=)
c.8207C= (p.Thr2736=)
c.231-12848C=
c.8237C= (p.Thr2746=)
c.8132C= (p.Thr2711=)
c.8123C= (p.Thr2708=)
c.8084C= (p.Thr2695=)
c.8030C= (p.Thr2677=)
c.7934C= (p.Thr2645=)
c.7904C= (p.Thr2635=)
c.7829C= (p.Thr2610=)
c.7727C= (p.Thr2576=)
c.7358C= (p.Thr2453=)
5g.112843801C>GCA16039148APCc.8261C>G (p.Thr2754Ser)
c.*8213C>G (n.*8213C>G)
c.8153C>G (p.Thr2718Ser)
c.8207C>G (p.Thr2736Ser)
c.231-12848C>G
c.8237C>G (p.Thr2746Ser)
c.8132C>G (p.Thr2711Ser)
c.8123C>G (p.Thr2708Ser)
c.8084C>G (p.Thr2695Ser)
c.8030C>G (p.Thr2677Ser)
c.7934C>G (p.Thr2645Ser)
c.7904C>G (p.Thr2635Ser)
c.7829C>G (p.Thr2610Ser)
c.7727C>G (p.Thr2576Ser)
c.7358C>G (p.Thr2453Ser)
 ClinVar dbSNP
5g.112843801C>TCA16039149APCc.8261C>T (p.Thr2754Ile)
c.*8213C>T (n.*8213C>T)
c.8153C>T (p.Thr2718Ile)
c.8207C>T (p.Thr2736Ile)
c.231-12848C>T
c.8237C>T (p.Thr2746Ile)
c.8132C>T (p.Thr2711Ile)
c.8123C>T (p.Thr2708Ile)
c.8084C>T (p.Thr2695Ile)
c.8030C>T (p.Thr2677Ile)
c.7934C>T (p.Thr2645Ile)
c.7904C>T (p.Thr2635Ile)
c.7829C>T (p.Thr2610Ile)
c.7727C>T (p.Thr2576Ile)
c.7358C>T (p.Thr2453Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843802T>ACA446211298APCc.8262T>A (p.Thr2754=)
c.*8214T>A (n.*8214T>A)
c.8154T>A (p.Thr2718=)
c.8208T>A (p.Thr2736=)
c.231-12847T>A
c.8238T>A (p.Thr2746=)
c.8133T>A (p.Thr2711=)
c.8124T>A (p.Thr2708=)
c.8085T>A (p.Thr2695=)
c.8031T>A (p.Thr2677=)
c.7935T>A (p.Thr2645=)
c.7905T>A (p.Thr2635=)
c.7830T>A (p.Thr2610=)
c.7728T>A (p.Thr2576=)
c.7359T>A (p.Thr2453=)
 dbSNP
5g.112843802T>CCA446211299APCc.8262T>C (p.Thr2754=)
c.*8214T>C (n.*8214T>C)
c.8154T>C (p.Thr2718=)
c.8208T>C (p.Thr2736=)
c.231-12847T>C
c.8238T>C (p.Thr2746=)
c.8133T>C (p.Thr2711=)
c.8124T>C (p.Thr2708=)
c.8085T>C (p.Thr2695=)
c.8031T>C (p.Thr2677=)
c.7935T>C (p.Thr2645=)
c.7905T>C (p.Thr2635=)
c.7830T>C (p.Thr2610=)
c.7728T>C (p.Thr2576=)
c.7359T>C (p.Thr2453=)
 ClinVar dbSNP gnomAD v4
5g.112843802T>GCA014434APCc.8262T>G (p.Thr2754=)
c.*8214T>G (n.*8214T>G)
c.8154T>G (p.Thr2718=)
c.8208T>G (p.Thr2736=)
c.231-12847T>G
c.8238T>G (p.Thr2746=)
c.8133T>G (p.Thr2711=)
c.8124T>G (p.Thr2708=)
c.8085T>G (p.Thr2695=)
c.8031T>G (p.Thr2677=)
c.7935T>G (p.Thr2645=)
c.7905T>G (p.Thr2635=)
c.7830T>G (p.Thr2610=)
c.7728T>G (p.Thr2576=)
c.7359T>G (p.Thr2453=)
 ClinVar dbSNP gnomAD v4
5g.112843802T=CA1573476795APCc.8262T= (p.Thr2754=)
c.*8214T= (n.*8214T=)
c.8154T= (p.Thr2718=)
c.8208T= (p.Thr2736=)
c.231-12847T=
c.8238T= (p.Thr2746=)
c.8133T= (p.Thr2711=)
c.8124T= (p.Thr2708=)
c.8085T= (p.Thr2695=)
c.8031T= (p.Thr2677=)
c.7935T= (p.Thr2645=)
c.7905T= (p.Thr2635=)
c.7830T= (p.Thr2610=)
c.7728T= (p.Thr2576=)
c.7359T= (p.Thr2453=)
5g.112843803G>ACA16039150APCc.8263G>A (p.Glu2755Lys)
c.*8215G>A (n.*8215G>A)
c.8155G>A (p.Glu2719Lys)
c.8209G>A (p.Glu2737Lys)
c.231-12846G>A
c.8239G>A (p.Glu2747Lys)
c.8134G>A (p.Glu2712Lys)
c.8125G>A (p.Glu2709Lys)
c.8086G>A (p.Glu2696Lys)
c.8032G>A (p.Glu2678Lys)
c.7936G>A (p.Glu2646Lys)
c.7906G>A (p.Glu2636Lys)
c.7831G>A (p.Glu2611Lys)
c.7729G>A (p.Glu2577Lys)
c.7360G>A (p.Glu2454Lys)
 ClinVar dbSNP
5g.112843803G>CCA16039151APCc.8263G>C (p.Glu2755Gln)
c.*8215G>C (n.*8215G>C)
c.8155G>C (p.Glu2719Gln)
c.8209G>C (p.Glu2737Gln)
c.231-12846G>C
c.8239G>C (p.Glu2747Gln)
c.8134G>C (p.Glu2712Gln)
c.8125G>C (p.Glu2709Gln)
c.8086G>C (p.Glu2696Gln)
c.8032G>C (p.Glu2678Gln)
c.7936G>C (p.Glu2646Gln)
c.7906G>C (p.Glu2636Gln)
c.7831G>C (p.Glu2611Gln)
c.7729G>C (p.Glu2577Gln)
c.7360G>C (p.Glu2454Gln)
 dbSNP
5g.112843803G=CA1573476804APCc.8263G= (p.Glu2755=)
c.*8215G= (n.*8215G=)
c.8155G= (p.Glu2719=)
c.8209G= (p.Glu2737=)
c.231-12846G=
c.8239G= (p.Glu2747=)
c.8134G= (p.Glu2712=)
c.8125G= (p.Glu2709=)
c.8086G= (p.Glu2696=)
c.8032G= (p.Glu2678=)
c.7936G= (p.Glu2646=)
c.7906G= (p.Glu2636=)
c.7831G= (p.Glu2611=)
c.7729G= (p.Glu2577=)
c.7360G= (p.Glu2454=)
5g.112843803G>TCA16039152APCc.8263G>T (p.Glu2755Ter)
c.*8215G>T (n.*8215G>T)
c.8155G>T (p.Glu2719Ter)
c.8209G>T (p.Glu2737Ter)
c.231-12846G>T
c.8239G>T (p.Glu2747Ter)
c.8134G>T (p.Glu2712Ter)
c.8125G>T (p.Glu2709Ter)
c.8086G>T (p.Glu2696Ter)
c.8032G>T (p.Glu2678Ter)
c.7936G>T (p.Glu2646Ter)
c.7906G>T (p.Glu2636Ter)
c.7831G>T (p.Glu2611Ter)
c.7729G>T (p.Glu2577Ter)
c.7360G>T (p.Glu2454Ter)
 COSMIC
5g.112843804A>CCA16039153APCc.8264A>C (p.Glu2755Ala)
c.*8216A>C (n.*8216A>C)
c.8156A>C (p.Glu2719Ala)
c.8210A>C (p.Glu2737Ala)
c.231-12845A>C
c.8240A>C (p.Glu2747Ala)
c.8135A>C (p.Glu2712Ala)
c.8126A>C (p.Glu2709Ala)
c.8087A>C (p.Glu2696Ala)
c.8033A>C (p.Glu2678Ala)
c.7937A>C (p.Glu2646Ala)
c.7907A>C (p.Glu2636Ala)
c.7832A>C (p.Glu2611Ala)
c.7730A>C (p.Glu2577Ala)
c.7361A>C (p.Glu2454Ala)
 ClinVar gnomAD v4
5g.112843804A>GCA16039154APCc.8264A>G (p.Glu2755Gly)
c.*8216A>G (n.*8216A>G)
c.8156A>G (p.Glu2719Gly)
c.8210A>G (p.Glu2737Gly)
c.231-12845A>G
c.8240A>G (p.Glu2747Gly)
c.8135A>G (p.Glu2712Gly)
c.8126A>G (p.Glu2709Gly)
c.8087A>G (p.Glu2696Gly)
c.8033A>G (p.Glu2678Gly)
c.7937A>G (p.Glu2646Gly)
c.7907A>G (p.Glu2636Gly)
c.7832A>G (p.Glu2611Gly)
c.7730A>G (p.Glu2577Gly)
c.7361A>G (p.Glu2454Gly)
 dbSNP
5g.112843804A>TCA16039155APCc.8264A>T (p.Glu2755Val)
c.*8216A>T (n.*8216A>T)
c.8156A>T (p.Glu2719Val)
c.8210A>T (p.Glu2737Val)
c.231-12845A>T
c.8240A>T (p.Glu2747Val)
c.8135A>T (p.Glu2712Val)
c.8126A>T (p.Glu2709Val)
c.8087A>T (p.Glu2696Val)
c.8033A>T (p.Glu2678Val)
c.7937A>T (p.Glu2646Val)
c.7907A>T (p.Glu2636Val)
c.7832A>T (p.Glu2611Val)
c.7730A>T (p.Glu2577Val)
c.7361A>T (p.Glu2454Val)
 dbSNP
5g.112843805G>ACA446211300APCc.8265G>A (p.Glu2755=)
c.*8217G>A (n.*8217G>A)
c.8157G>A (p.Glu2719=)
c.8211G>A (p.Glu2737=)
c.231-12844G>A
c.8241G>A (p.Glu2747=)
c.8136G>A (p.Glu2712=)
c.8127G>A (p.Glu2709=)
c.8088G>A (p.Glu2696=)
c.8034G>A (p.Glu2678=)
c.7938G>A (p.Glu2646=)
c.7908G>A (p.Glu2636=)
c.7833G>A (p.Glu2611=)
c.7731G>A (p.Glu2577=)
c.7362G>A (p.Glu2454=)
 dbSNP
5g.112843805G>CCA16039156APCc.8265G>C (p.Glu2755Asp)
c.*8217G>C (n.*8217G>C)
c.8157G>C (p.Glu2719Asp)
c.8211G>C (p.Glu2737Asp)
c.231-12844G>C
c.8241G>C (p.Glu2747Asp)
c.8136G>C (p.Glu2712Asp)
c.8127G>C (p.Glu2709Asp)
c.8088G>C (p.Glu2696Asp)
c.8034G>C (p.Glu2678Asp)
c.7938G>C (p.Glu2646Asp)
c.7908G>C (p.Glu2636Asp)
c.7833G>C (p.Glu2611Asp)
c.7731G>C (p.Glu2577Asp)
c.7362G>C (p.Glu2454Asp)
 ClinVar dbSNP
5g.112843805G=CA1573476810APCc.8265G= (p.Glu2755=)
c.*8217G= (n.*8217G=)
c.8157G= (p.Glu2719=)
c.8211G= (p.Glu2737=)
c.231-12844G=
c.8241G= (p.Glu2747=)
c.8136G= (p.Glu2712=)
c.8127G= (p.Glu2709=)
c.8088G= (p.Glu2696=)
c.8034G= (p.Glu2678=)
c.7938G= (p.Glu2646=)
c.7908G= (p.Glu2636=)
c.7833G= (p.Glu2611=)
c.7731G= (p.Glu2577=)
c.7362G= (p.Glu2454=)
5g.112843805G>TCA16039157APCc.8265G>T (p.Glu2755Asp)
c.*8217G>T (n.*8217G>T)
c.8157G>T (p.Glu2719Asp)
c.8211G>T (p.Glu2737Asp)
c.231-12844G>T
c.8241G>T (p.Glu2747Asp)
c.8136G>T (p.Glu2712Asp)
c.8127G>T (p.Glu2709Asp)
c.8088G>T (p.Glu2696Asp)
c.8034G>T (p.Glu2678Asp)
c.7938G>T (p.Glu2646Asp)
c.7908G>T (p.Glu2636Asp)
c.7833G>T (p.Glu2611Asp)
c.7731G>T (p.Glu2577Asp)
c.7362G>T (p.Glu2454Asp)
5g.112843805_112843806insTTCA1573476821APCc.8265_8266insTT (p.Ile2756LeufsTer2)
c.*8217_*8218insTT (n.*8217_*8218insTT)
c.8157_8158insTT (p.Ile2720LeufsTer2)
c.8211_8212insTT (p.Ile2738LeufsTer2)
c.231-12844_231-12843insTT
c.8241_8242insTT (p.Ile2748LeufsTer2)
c.8136_8137insTT (p.Ile2713LeufsTer2)
c.8127_8128insTT (p.Ile2710LeufsTer2)
c.8088_8089insTT (p.Ile2697LeufsTer2)
c.8034_8035insTT (p.Ile2679LeufsTer2)
c.7938_7939insTT (p.Ile2647LeufsTer2)
c.7908_7909insTT (p.Ile2637LeufsTer2)
c.7833_7834insTT (p.Ile2612LeufsTer2)
c.7731_7732insTT (p.Ile2578LeufsTer2)
c.7362_7363insTT (p.Ile2455LeufsTer2)
 dbSNP
5g.112843806A=CA1573476825APCc.8266A= (p.Ile2756=)
c.*8218A= (n.*8218A=)
c.8158A= (p.Ile2720=)
c.8212A= (p.Ile2738=)
c.231-12843A=
c.8242A= (p.Ile2748=)
c.8137A= (p.Ile2713=)
c.8128A= (p.Ile2710=)
c.8089A= (p.Ile2697=)
c.8035A= (p.Ile2679=)
c.7939A= (p.Ile2647=)
c.7909A= (p.Ile2637=)
c.7834A= (p.Ile2612=)
c.7732A= (p.Ile2578=)
c.7363A= (p.Ile2455=)
5g.112843806A>CCA16039158APCc.8266A>C (p.Ile2756Leu)
c.*8218A>C (n.*8218A>C)
c.8158A>C (p.Ile2720Leu)
c.8212A>C (p.Ile2738Leu)
c.231-12843A>C
c.8242A>C (p.Ile2748Leu)
c.8137A>C (p.Ile2713Leu)
c.8128A>C (p.Ile2710Leu)
c.8089A>C (p.Ile2697Leu)
c.8035A>C (p.Ile2679Leu)
c.7939A>C (p.Ile2647Leu)
c.7909A>C (p.Ile2637Leu)
c.7834A>C (p.Ile2612Leu)
c.7732A>C (p.Ile2578Leu)
c.7363A>C (p.Ile2455Leu)
5g.112843806A>GCA10578459APCc.8266A>G (p.Ile2756Val)
c.*8218A>G (n.*8218A>G)
c.8158A>G (p.Ile2720Val)
c.8212A>G (p.Ile2738Val)
c.231-12843A>G
c.8242A>G (p.Ile2748Val)
c.8137A>G (p.Ile2713Val)
c.8128A>G (p.Ile2710Val)
c.8089A>G (p.Ile2697Val)
c.8035A>G (p.Ile2679Val)
c.7939A>G (p.Ile2647Val)
c.7909A>G (p.Ile2637Val)
c.7834A>G (p.Ile2612Val)
c.7732A>G (p.Ile2578Val)
c.7363A>G (p.Ile2455Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843806A>TCA16039159APCc.8266A>T (p.Ile2756Leu)
c.*8218A>T (n.*8218A>T)
c.8158A>T (p.Ile2720Leu)
c.8212A>T (p.Ile2738Leu)
c.231-12843A>T
c.8242A>T (p.Ile2748Leu)
c.8137A>T (p.Ile2713Leu)
c.8128A>T (p.Ile2710Leu)
c.8089A>T (p.Ile2697Leu)
c.8035A>T (p.Ile2679Leu)
c.7939A>T (p.Ile2647Leu)
c.7909A>T (p.Ile2637Leu)
c.7834A>T (p.Ile2612Leu)
c.7732A>T (p.Ile2578Leu)
c.7363A>T (p.Ile2455Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843810_112843825delCA2582341607APCc.8270_8285del (p.Lys2757IlefsTer13)
c.*8222_*8237del (n.*8222_*8237del)
c.8162_8177del (p.Lys2721IlefsTer13)
c.8216_8231del (p.Lys2739IlefsTer13)
c.231-12839_231-12824del
c.8246_8261del (p.Lys2749IlefsTer13)
c.8141_8156del (p.Lys2714IlefsTer13)
c.8132_8147del (p.Lys2711IlefsTer13)
c.8093_8108del (p.Lys2698IlefsTer13)
c.8039_8054del (p.Lys2680IlefsTer13)
c.7943_7958del (p.Lys2648IlefsTer13)
c.7913_7928del (p.Lys2638IlefsTer13)
c.7838_7853del (p.Lys2613IlefsTer13)
c.7736_7751del (p.Lys2579IlefsTer13)
c.7367_7382del (p.Lys2456IlefsTer13)
 ClinVar
5g.112843807T>ACA16039160APCc.8267T>A (p.Ile2756Lys)
c.*8219T>A (n.*8219T>A)
c.8159T>A (p.Ile2720Lys)
c.8213T>A (p.Ile2738Lys)
c.231-12842T>A
c.8243T>A (p.Ile2748Lys)
c.8138T>A (p.Ile2713Lys)
c.8129T>A (p.Ile2710Lys)
c.8090T>A (p.Ile2697Lys)
c.8036T>A (p.Ile2679Lys)
c.7940T>A (p.Ile2647Lys)
c.7910T>A (p.Ile2637Lys)
c.7835T>A (p.Ile2612Lys)
c.7733T>A (p.Ile2578Lys)
c.7364T>A (p.Ile2455Lys)
5g.112843807T>CCA336116APCc.8267T>C (p.Ile2756Thr)
c.*8219T>C (n.*8219T>C)
c.8159T>C (p.Ile2720Thr)
c.8213T>C (p.Ile2738Thr)
c.231-12842T>C
c.8243T>C (p.Ile2748Thr)
c.8138T>C (p.Ile2713Thr)
c.8129T>C (p.Ile2710Thr)
c.8090T>C (p.Ile2697Thr)
c.8036T>C (p.Ile2679Thr)
c.7940T>C (p.Ile2647Thr)
c.7910T>C (p.Ile2637Thr)
c.7835T>C (p.Ile2612Thr)
c.7733T>C (p.Ile2578Thr)
c.7364T>C (p.Ile2455Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843807T>GCA16039161APCc.8267T>G (p.Ile2756Arg)
c.*8219T>G (n.*8219T>G)
c.8159T>G (p.Ile2720Arg)
c.8213T>G (p.Ile2738Arg)
c.231-12842T>G
c.8243T>G (p.Ile2748Arg)
c.8138T>G (p.Ile2713Arg)
c.8129T>G (p.Ile2710Arg)
c.8090T>G (p.Ile2697Arg)
c.8036T>G (p.Ile2679Arg)
c.7940T>G (p.Ile2647Arg)
c.7910T>G (p.Ile2637Arg)
c.7835T>G (p.Ile2612Arg)
c.7733T>G (p.Ile2578Arg)
c.7364T>G (p.Ile2455Arg)
 ClinVar
5g.112843807T=CA1573476833APCc.8267T= (p.Ile2756=)
c.*8219T= (n.*8219T=)
c.8159T= (p.Ile2720=)
c.8213T= (p.Ile2738=)
c.231-12842T=
c.8243T= (p.Ile2748=)
c.8138T= (p.Ile2713=)
c.8129T= (p.Ile2710=)
c.8090T= (p.Ile2697=)
c.8036T= (p.Ile2679=)
c.7940T= (p.Ile2647=)
c.7910T= (p.Ile2637=)
c.7835T= (p.Ile2612=)
c.7733T= (p.Ile2578=)
c.7364T= (p.Ile2455=)
5g.112843808A=CA1573476861APCc.8268A= (p.Ile2756=)
c.*8220A= (n.*8220A=)
c.8160A= (p.Ile2720=)
c.8214A= (p.Ile2738=)
c.231-12841A=
c.8244A= (p.Ile2748=)
c.8139A= (p.Ile2713=)
c.8130A= (p.Ile2710=)
c.8091A= (p.Ile2697=)
c.8037A= (p.Ile2679=)
c.7941A= (p.Ile2647=)
c.7911A= (p.Ile2637=)
c.7836A= (p.Ile2612=)
c.7734A= (p.Ile2578=)
c.7365A= (p.Ile2455=)
5g.112843808A>CCA446211301APCc.8268A>C (p.Ile2756=)
c.*8220A>C (n.*8220A>C)
c.8160A>C (p.Ile2720=)
c.8214A>C (p.Ile2738=)
c.231-12841A>C
c.8244A>C (p.Ile2748=)
c.8139A>C (p.Ile2713=)
c.8130A>C (p.Ile2710=)
c.8091A>C (p.Ile2697=)
c.8037A>C (p.Ile2679=)
c.7941A>C (p.Ile2647=)
c.7911A>C (p.Ile2637=)
c.7836A>C (p.Ile2612=)
c.7734A>C (p.Ile2578=)
c.7365A>C (p.Ile2455=)
5g.112843808A>GCA16039162APCc.8268A>G (p.Ile2756Met)
c.*8220A>G (n.*8220A>G)
c.8160A>G (p.Ile2720Met)
c.8214A>G (p.Ile2738Met)
c.231-12841A>G
c.8244A>G (p.Ile2748Met)
c.8139A>G (p.Ile2713Met)
c.8130A>G (p.Ile2710Met)
c.8091A>G (p.Ile2697Met)
c.8037A>G (p.Ile2679Met)
c.7941A>G (p.Ile2647Met)
c.7911A>G (p.Ile2637Met)
c.7836A>G (p.Ile2612Met)
c.7734A>G (p.Ile2578Met)
c.7365A>G (p.Ile2455Met)
 ClinVar dbSNP gnomAD v4
5g.112843808A>TCA446211302APCc.8268A>T (p.Ile2756=)
c.*8220A>T (n.*8220A>T)
c.8160A>T (p.Ile2720=)
c.8214A>T (p.Ile2738=)
c.231-12841A>T
c.8244A>T (p.Ile2748=)
c.8139A>T (p.Ile2713=)
c.8130A>T (p.Ile2710=)
c.8091A>T (p.Ile2697=)
c.8037A>T (p.Ile2679=)
c.7941A>T (p.Ile2647=)
c.7911A>T (p.Ile2637=)
c.7836A>T (p.Ile2612=)
c.7734A>T (p.Ile2578=)
c.7365A>T (p.Ile2455=)
 ClinVar dbSNP gnomAD v4
5g.112843809A=CA1573476871APCc.8269A= (p.Lys2757=)
c.*8221A= (n.*8221A=)
c.8161A= (p.Lys2721=)
c.8215A= (p.Lys2739=)
c.231-12840A=
c.8245A= (p.Lys2749=)
c.8140A= (p.Lys2714=)
c.8131A= (p.Lys2711=)
c.8092A= (p.Lys2698=)
c.8038A= (p.Lys2680=)
c.7942A= (p.Lys2648=)
c.7912A= (p.Lys2638=)
c.7837A= (p.Lys2613=)
c.7735A= (p.Lys2579=)
c.7366A= (p.Lys2456=)
5g.112843809A>CCA16039163APCc.8269A>C (p.Lys2757Gln)
c.*8221A>C (n.*8221A>C)
c.8161A>C (p.Lys2721Gln)
c.8215A>C (p.Lys2739Gln)
c.231-12840A>C
c.8245A>C (p.Lys2749Gln)
c.8140A>C (p.Lys2714Gln)
c.8131A>C (p.Lys2711Gln)
c.8092A>C (p.Lys2698Gln)
c.8038A>C (p.Lys2680Gln)
c.7942A>C (p.Lys2648Gln)
c.7912A>C (p.Lys2638Gln)
c.7837A>C (p.Lys2613Gln)
c.7735A>C (p.Lys2579Gln)
c.7366A>C (p.Lys2456Gln)
5g.112843809A>GCA16039164APCc.8269A>G (p.Lys2757Glu)
c.*8221A>G (n.*8221A>G)
c.8161A>G (p.Lys2721Glu)
c.8215A>G (p.Lys2739Glu)
c.231-12840A>G
c.8245A>G (p.Lys2749Glu)
c.8140A>G (p.Lys2714Glu)
c.8131A>G (p.Lys2711Glu)
c.8092A>G (p.Lys2698Glu)
c.8038A>G (p.Lys2680Glu)
c.7942A>G (p.Lys2648Glu)
c.7912A>G (p.Lys2638Glu)
c.7837A>G (p.Lys2613Glu)
c.7735A>G (p.Lys2579Glu)
c.7366A>G (p.Lys2456Glu)
 dbSNP
5g.112843809A>TCA16039165APCc.8269A>T (p.Lys2757Ter)
c.*8221A>T (n.*8221A>T)
c.8161A>T (p.Lys2721Ter)
c.8215A>T (p.Lys2739Ter)
c.231-12840A>T
c.8245A>T (p.Lys2749Ter)
c.8140A>T (p.Lys2714Ter)
c.8131A>T (p.Lys2711Ter)
c.8092A>T (p.Lys2698Ter)
c.8038A>T (p.Lys2680Ter)
c.7942A>T (p.Lys2648Ter)
c.7912A>T (p.Lys2638Ter)
c.7837A>T (p.Lys2613Ter)
c.7735A>T (p.Lys2579Ter)
c.7366A>T (p.Lys2456Ter)
 dbSNP
5g.112843810A>CCA16039166APCc.8270A>C (p.Lys2757Thr)
c.*8222A>C (n.*8222A>C)
c.8162A>C (p.Lys2721Thr)
c.8216A>C (p.Lys2739Thr)
c.231-12839A>C
c.8246A>C (p.Lys2749Thr)
c.8141A>C (p.Lys2714Thr)
c.8132A>C (p.Lys2711Thr)
c.8093A>C (p.Lys2698Thr)
c.8039A>C (p.Lys2680Thr)
c.7943A>C (p.Lys2648Thr)
c.7913A>C (p.Lys2638Thr)
c.7838A>C (p.Lys2613Thr)
c.7736A>C (p.Lys2579Thr)
c.7367A>C (p.Lys2456Thr)
 dbSNP
5g.112843810A>GCA16039167APCc.8270A>G (p.Lys2757Arg)
c.*8222A>G (n.*8222A>G)
c.8162A>G (p.Lys2721Arg)
c.8216A>G (p.Lys2739Arg)
c.231-12839A>G
c.8246A>G (p.Lys2749Arg)
c.8141A>G (p.Lys2714Arg)
c.8132A>G (p.Lys2711Arg)
c.8093A>G (p.Lys2698Arg)
c.8039A>G (p.Lys2680Arg)
c.7943A>G (p.Lys2648Arg)
c.7913A>G (p.Lys2638Arg)
c.7838A>G (p.Lys2613Arg)
c.7736A>G (p.Lys2579Arg)
c.7367A>G (p.Lys2456Arg)
 dbSNP
5g.112843810A>TCA16039168APCc.8270A>T (p.Lys2757Ile)
c.*8222A>T (n.*8222A>T)
c.8162A>T (p.Lys2721Ile)
c.8216A>T (p.Lys2739Ile)
c.231-12839A>T
c.8246A>T (p.Lys2749Ile)
c.8141A>T (p.Lys2714Ile)
c.8132A>T (p.Lys2711Ile)
c.8093A>T (p.Lys2698Ile)
c.8039A>T (p.Lys2680Ile)
c.7943A>T (p.Lys2648Ile)
c.7913A>T (p.Lys2638Ile)
c.7838A>T (p.Lys2613Ile)
c.7736A>T (p.Lys2579Ile)
c.7367A>T (p.Lys2456Ile)
 ClinVar dbSNP gnomAD v4
5g.112843811A>CCA16039169APCc.8271A>C (p.Lys2757Asn)
c.*8223A>C (n.*8223A>C)
c.8163A>C (p.Lys2721Asn)
c.8217A>C (p.Lys2739Asn)
c.231-12838A>C
c.8247A>C (p.Lys2749Asn)
c.8142A>C (p.Lys2714Asn)
c.8133A>C (p.Lys2711Asn)
c.8094A>C (p.Lys2698Asn)
c.8040A>C (p.Lys2680Asn)
c.7944A>C (p.Lys2648Asn)
c.7914A>C (p.Lys2638Asn)
c.7839A>C (p.Lys2613Asn)
c.7737A>C (p.Lys2579Asn)
c.7368A>C (p.Lys2456Asn)
5g.112843811A>GCA446211303APCc.8271A>G (p.Lys2757=)
c.*8223A>G (n.*8223A>G)
c.8163A>G (p.Lys2721=)
c.8217A>G (p.Lys2739=)
c.231-12838A>G
c.8247A>G (p.Lys2749=)
c.8142A>G (p.Lys2714=)
c.8133A>G (p.Lys2711=)
c.8094A>G (p.Lys2698=)
c.8040A>G (p.Lys2680=)
c.7944A>G (p.Lys2648=)
c.7914A>G (p.Lys2638=)
c.7839A>G (p.Lys2613=)
c.7737A>G (p.Lys2579=)
c.7368A>G (p.Lys2456=)
 gnomAD v4
5g.112843811A>TCA16039170APCc.8271A>T (p.Lys2757Asn)
c.*8223A>T (n.*8223A>T)
c.8163A>T (p.Lys2721Asn)
c.8217A>T (p.Lys2739Asn)
c.231-12838A>T
c.8247A>T (p.Lys2749Asn)
c.8142A>T (p.Lys2714Asn)
c.8133A>T (p.Lys2711Asn)
c.8094A>T (p.Lys2698Asn)
c.8040A>T (p.Lys2680Asn)
c.7944A>T (p.Lys2648Asn)
c.7914A>T (p.Lys2638Asn)
c.7839A>T (p.Lys2613Asn)
c.7737A>T (p.Lys2579Asn)
c.7368A>T (p.Lys2456Asn)
5g.112843812C>ACA16039171APCc.8272C>A (p.Pro2758Thr)
c.*8224C>A (n.*8224C>A)
c.8164C>A (p.Pro2722Thr)
c.8218C>A (p.Pro2740Thr)
c.231-12837C>A
c.8248C>A (p.Pro2750Thr)
c.8143C>A (p.Pro2715Thr)
c.8134C>A (p.Pro2712Thr)
c.8095C>A (p.Pro2699Thr)
c.8041C>A (p.Pro2681Thr)
c.7945C>A (p.Pro2649Thr)
c.7915C>A (p.Pro2639Thr)
c.7840C>A (p.Pro2614Thr)
c.7738C>A (p.Pro2580Thr)
c.7369C>A (p.Pro2457Thr)
 ClinVar dbSNP
5g.112843812C=CA1573476878APCc.8272C= (p.Pro2758=)
c.*8224C= (n.*8224C=)
c.8164C= (p.Pro2722=)
c.8218C= (p.Pro2740=)
c.231-12837C=
c.8248C= (p.Pro2750=)
c.8143C= (p.Pro2715=)
c.8134C= (p.Pro2712=)
c.8095C= (p.Pro2699=)
c.8041C= (p.Pro2681=)
c.7945C= (p.Pro2649=)
c.7915C= (p.Pro2639=)
c.7840C= (p.Pro2614=)
c.7738C= (p.Pro2580=)
c.7369C= (p.Pro2457=)
5g.112843812C>GCA16039172APCc.8272C>G (p.Pro2758Ala)
c.*8224C>G (n.*8224C>G)
c.8164C>G (p.Pro2722Ala)
c.8218C>G (p.Pro2740Ala)
c.231-12837C>G
c.8248C>G (p.Pro2750Ala)
c.8143C>G (p.Pro2715Ala)
c.8134C>G (p.Pro2712Ala)
c.8095C>G (p.Pro2699Ala)
c.8041C>G (p.Pro2681Ala)
c.7945C>G (p.Pro2649Ala)
c.7915C>G (p.Pro2639Ala)
c.7840C>G (p.Pro2614Ala)
c.7738C>G (p.Pro2580Ala)
c.7369C>G (p.Pro2457Ala)
 dbSNP
5g.112843812C>TCA050195APCc.8272C>T (p.Pro2758Ser)
c.*8224C>T (n.*8224C>T)
c.8164C>T (p.Pro2722Ser)
c.8218C>T (p.Pro2740Ser)
c.231-12837C>T
c.8248C>T (p.Pro2750Ser)
c.8143C>T (p.Pro2715Ser)
c.8134C>T (p.Pro2712Ser)
c.8095C>T (p.Pro2699Ser)
c.8041C>T (p.Pro2681Ser)
c.7945C>T (p.Pro2649Ser)
c.7915C>T (p.Pro2639Ser)
c.7840C>T (p.Pro2614Ser)
c.7738C>T (p.Pro2580Ser)
c.7369C>T (p.Pro2457Ser)
 ClinVar dbSNP ExAC gnomAD v4
5g.112843812_112843813delinsCCCA1573476884APCc.8272_8273delinsCC (p.Pro2758=)
c.*8224_*8225delinsCC (n.*8224_*8225delinsCC)
c.8164_8165delinsCC (p.Pro2722=)
c.8218_8219delinsCC (p.Pro2740=)
c.231-12837_231-12836delinsCC
c.8248_8249delinsCC (p.Pro2750=)
c.8143_8144delinsCC (p.Pro2715=)
c.8134_8135delinsCC (p.Pro2712=)
c.8095_8096delinsCC (p.Pro2699=)
c.8041_8042delinsCC (p.Pro2681=)
c.7945_7946delinsCC (p.Pro2649=)
c.7915_7916delinsCC (p.Pro2639=)
c.7840_7841delinsCC (p.Pro2614=)
c.7738_7739delinsCC (p.Pro2580=)
c.7369_7370delinsCC (p.Pro2457=)
5g.112843812_112843813delinsTTCA1573476907APCc.8272_8273delinsTT (p.Pro2758Leu)
c.*8224_*8225delinsTT (n.*8224_*8225delinsTT)
c.8164_8165delinsTT (p.Pro2722Leu)
c.8218_8219delinsTT (p.Pro2740Leu)
c.231-12837_231-12836delinsTT
c.8248_8249delinsTT (p.Pro2750Leu)
c.8143_8144delinsTT (p.Pro2715Leu)
c.8134_8135delinsTT (p.Pro2712Leu)
c.8095_8096delinsTT (p.Pro2699Leu)
c.8041_8042delinsTT (p.Pro2681Leu)
c.7945_7946delinsTT (p.Pro2649Leu)
c.7915_7916delinsTT (p.Pro2639Leu)
c.7840_7841delinsTT (p.Pro2614Leu)
c.7738_7739delinsTT (p.Pro2580Leu)
c.7369_7370delinsTT (p.Pro2457Leu)
 ClinVar dbSNP
5g.112843813C>ACA16039173APCc.8273C>A (p.Pro2758Gln)
c.*8225C>A (n.*8225C>A)
c.8165C>A (p.Pro2722Gln)
c.8219C>A (p.Pro2740Gln)
c.231-12836C>A
c.8249C>A (p.Pro2750Gln)
c.8144C>A (p.Pro2715Gln)
c.8135C>A (p.Pro2712Gln)
c.8096C>A (p.Pro2699Gln)
c.8042C>A (p.Pro2681Gln)
c.7946C>A (p.Pro2649Gln)
c.7916C>A (p.Pro2639Gln)
c.7841C>A (p.Pro2614Gln)
c.7739C>A (p.Pro2580Gln)
c.7370C>A (p.Pro2457Gln)
 ClinVar dbSNP
5g.112843813C=CA1573476921APCc.8273C= (p.Pro2758=)
c.*8225C= (n.*8225C=)
c.8165C= (p.Pro2722=)
c.8219C= (p.Pro2740=)
c.231-12836C=
c.8249C= (p.Pro2750=)
c.8144C= (p.Pro2715=)
c.8135C= (p.Pro2712=)
c.8096C= (p.Pro2699=)
c.8042C= (p.Pro2681=)
c.7946C= (p.Pro2649=)
c.7916C= (p.Pro2639=)
c.7841C= (p.Pro2614=)
c.7739C= (p.Pro2580=)
c.7370C= (p.Pro2457=)
5g.112843813C>GCA16039174APCc.8273C>G (p.Pro2758Arg)
c.*8225C>G (n.*8225C>G)
c.8165C>G (p.Pro2722Arg)
c.8219C>G (p.Pro2740Arg)
c.231-12836C>G
c.8249C>G (p.Pro2750Arg)
c.8144C>G (p.Pro2715Arg)
c.8135C>G (p.Pro2712Arg)
c.8096C>G (p.Pro2699Arg)
c.8042C>G (p.Pro2681Arg)
c.7946C>G (p.Pro2649Arg)
c.7916C>G (p.Pro2639Arg)
c.7841C>G (p.Pro2614Arg)
c.7739C>G (p.Pro2580Arg)
c.7370C>G (p.Pro2457Arg)
 dbSNP
5g.112843813C>TCA16039175APCc.8273C>T (p.Pro2758Leu)
c.*8225C>T (n.*8225C>T)
c.8165C>T (p.Pro2722Leu)
c.8219C>T (p.Pro2740Leu)
c.231-12836C>T
c.8249C>T (p.Pro2750Leu)
c.8144C>T (p.Pro2715Leu)
c.8135C>T (p.Pro2712Leu)
c.8096C>T (p.Pro2699Leu)
c.8042C>T (p.Pro2681Leu)
c.7946C>T (p.Pro2649Leu)
c.7916C>T (p.Pro2639Leu)
c.7841C>T (p.Pro2614Leu)
c.7739C>T (p.Pro2580Leu)
c.7370C>T (p.Pro2457Leu)
 ClinVar dbSNP gnomAD v4
5g.112843814A=CA1573476933APCc.8274A= (p.Pro2758=)
c.*8226A= (n.*8226A=)
c.8166A= (p.Pro2722=)
c.8220A= (p.Pro2740=)
c.231-12835A=
c.8250A= (p.Pro2750=)
c.8145A= (p.Pro2715=)
c.8136A= (p.Pro2712=)
c.8097A= (p.Pro2699=)
c.8043A= (p.Pro2681=)
c.7947A= (p.Pro2649=)
c.7917A= (p.Pro2639=)
c.7842A= (p.Pro2614=)
c.7740A= (p.Pro2580=)
c.7371A= (p.Pro2457=)
5g.112843814A>CCA446211304APCc.8274A>C (p.Pro2758=)
c.*8226A>C (n.*8226A>C)
c.8166A>C (p.Pro2722=)
c.8220A>C (p.Pro2740=)
c.231-12835A>C
c.8250A>C (p.Pro2750=)
c.8145A>C (p.Pro2715=)
c.8136A>C (p.Pro2712=)
c.8097A>C (p.Pro2699=)
c.8043A>C (p.Pro2681=)
c.7947A>C (p.Pro2649=)
c.7917A>C (p.Pro2639=)
c.7842A>C (p.Pro2614=)
c.7740A>C (p.Pro2580=)
c.7371A>C (p.Pro2457=)
5g.112843814A>GCA050212APCc.8274A>G (p.Pro2758=)
c.*8226A>G (n.*8226A>G)
c.8166A>G (p.Pro2722=)
c.8220A>G (p.Pro2740=)
c.231-12835A>G
c.8250A>G (p.Pro2750=)
c.8145A>G (p.Pro2715=)
c.8136A>G (p.Pro2712=)
c.8097A>G (p.Pro2699=)
c.8043A>G (p.Pro2681=)
c.7947A>G (p.Pro2649=)
c.7917A>G (p.Pro2639=)
c.7842A>G (p.Pro2614=)
c.7740A>G (p.Pro2580=)
c.7371A>G (p.Pro2457=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843814A>TCA446211305APCc.8274A>T (p.Pro2758=)
c.*8226A>T (n.*8226A>T)
c.8166A>T (p.Pro2722=)
c.8220A>T (p.Pro2740=)
c.231-12835A>T
c.8250A>T (p.Pro2750=)
c.8145A>T (p.Pro2715=)
c.8136A>T (p.Pro2712=)
c.8097A>T (p.Pro2699=)
c.8043A>T (p.Pro2681=)
c.7947A>T (p.Pro2649=)
c.7917A>T (p.Pro2639=)
c.7842A>T (p.Pro2614=)
c.7740A>T (p.Pro2580=)
c.7371A>T (p.Pro2457=)
5g.112843815G>ACA16039176APCc.8275G>A (p.Gly2759Arg)
c.*8227G>A (n.*8227G>A)
c.8167G>A (p.Gly2723Arg)
c.8221G>A (p.Gly2741Arg)
c.231-12834G>A
c.8251G>A (p.Gly2751Arg)
c.8146G>A (p.Gly2716Arg)
c.8137G>A (p.Gly2713Arg)
c.8098G>A (p.Gly2700Arg)
c.8044G>A (p.Gly2682Arg)
c.7948G>A (p.Gly2650Arg)
c.7918G>A (p.Gly2640Arg)
c.7843G>A (p.Gly2615Arg)
c.7741G>A (p.Gly2581Arg)
c.7372G>A (p.Gly2458Arg)
 ClinVar dbSNP
5g.112843815G>CCA16039177APCc.8275G>C (p.Gly2759Arg)
c.*8227G>C (n.*8227G>C)
c.8167G>C (p.Gly2723Arg)
c.8221G>C (p.Gly2741Arg)
c.231-12834G>C
c.8251G>C (p.Gly2751Arg)
c.8146G>C (p.Gly2716Arg)
c.8137G>C (p.Gly2713Arg)
c.8098G>C (p.Gly2700Arg)
c.8044G>C (p.Gly2682Arg)
c.7948G>C (p.Gly2650Arg)
c.7918G>C (p.Gly2640Arg)
c.7843G>C (p.Gly2615Arg)
c.7741G>C (p.Gly2581Arg)
c.7372G>C (p.Gly2458Arg)
 ClinVar dbSNP
5g.112843815G=CA1573476939APCc.8275G= (p.Gly2759=)
c.*8227G= (n.*8227G=)
c.8167G= (p.Gly2723=)
c.8221G= (p.Gly2741=)
c.231-12834G=
c.8251G= (p.Gly2751=)
c.8146G= (p.Gly2716=)
c.8137G= (p.Gly2713=)
c.8098G= (p.Gly2700=)
c.8044G= (p.Gly2682=)
c.7948G= (p.Gly2650=)
c.7918G= (p.Gly2640=)
c.7843G= (p.Gly2615=)
c.7741G= (p.Gly2581=)
c.7372G= (p.Gly2458=)
5g.112843815G>TCA16039178APCc.8275G>T (p.Gly2759Ter)
c.*8227G>T (n.*8227G>T)
c.8167G>T (p.Gly2723Ter)
c.8221G>T (p.Gly2741Ter)
c.231-12834G>T
c.8251G>T (p.Gly2751Ter)
c.8146G>T (p.Gly2716Ter)
c.8137G>T (p.Gly2713Ter)
c.8098G>T (p.Gly2700Ter)
c.8044G>T (p.Gly2682Ter)
c.7948G>T (p.Gly2650Ter)
c.7918G>T (p.Gly2640Ter)
c.7843G>T (p.Gly2615Ter)
c.7741G>T (p.Gly2581Ter)
c.7372G>T (p.Gly2458Ter)
 dbSNP
5g.112843816delCA2695198717APCc.8276del (p.Gly2759AspfsTer16)
c.*8228del (n.*8228del)
c.8168del (p.Gly2723AspfsTer16)
c.8222del (p.Gly2741AspfsTer16)
c.231-12833del
c.8252del (p.Gly2751AspfsTer16)
c.8147del (p.Gly2716AspfsTer16)
c.8138del (p.Gly2713AspfsTer16)
c.8099del (p.Gly2700AspfsTer16)
c.8045del (p.Gly2682AspfsTer16)
c.7949del (p.Gly2650AspfsTer16)
c.7919del (p.Gly2640AspfsTer16)
c.7844del (p.Gly2615AspfsTer16)
c.7742del (p.Gly2581AspfsTer16)
c.7373del (p.Gly2458AspfsTer16)
 ClinVar
5g.112843816G>ACA16039179APCc.8276G>A (p.Gly2759Glu)
c.*8228G>A (n.*8228G>A)
c.8168G>A (p.Gly2723Glu)
c.8222G>A (p.Gly2741Glu)
c.231-12833G>A
c.8252G>A (p.Gly2751Glu)
c.8147G>A (p.Gly2716Glu)
c.8138G>A (p.Gly2713Glu)
c.8099G>A (p.Gly2700Glu)
c.8045G>A (p.Gly2682Glu)
c.7949G>A (p.Gly2650Glu)
c.7919G>A (p.Gly2640Glu)
c.7844G>A (p.Gly2615Glu)
c.7742G>A (p.Gly2581Glu)
c.7373G>A (p.Gly2458Glu)
 dbSNP
5g.112843816G>CCA16039180APCc.8276G>C (p.Gly2759Ala)
c.*8228G>C (n.*8228G>C)
c.8168G>C (p.Gly2723Ala)
c.8222G>C (p.Gly2741Ala)
c.231-12833G>C
c.8252G>C (p.Gly2751Ala)
c.8147G>C (p.Gly2716Ala)
c.8138G>C (p.Gly2713Ala)
c.8099G>C (p.Gly2700Ala)
c.8045G>C (p.Gly2682Ala)
c.7949G>C (p.Gly2650Ala)
c.7919G>C (p.Gly2640Ala)
c.7844G>C (p.Gly2615Ala)
c.7742G>C (p.Gly2581Ala)
c.7373G>C (p.Gly2458Ala)
 dbSNP
5g.112843816G>TCA16039181APCc.8276G>T (p.Gly2759Val)
c.*8228G>T (n.*8228G>T)
c.8168G>T (p.Gly2723Val)
c.8222G>T (p.Gly2741Val)
c.231-12833G>T
c.8252G>T (p.Gly2751Val)
c.8147G>T (p.Gly2716Val)
c.8138G>T (p.Gly2713Val)
c.8099G>T (p.Gly2700Val)
c.8045G>T (p.Gly2682Val)
c.7949G>T (p.Gly2650Val)
c.7919G>T (p.Gly2640Val)
c.7844G>T (p.Gly2615Val)
c.7742G>T (p.Gly2581Val)
c.7373G>T (p.Gly2458Val)
 dbSNP
5g.112843817A=CA1573476951APCc.8277A= (p.Gly2759=)
c.*8229A= (n.*8229A=)
c.8169A= (p.Gly2723=)
c.8223A= (p.Gly2741=)
c.231-12832A=
c.8253A= (p.Gly2751=)
c.8148A= (p.Gly2716=)
c.8139A= (p.Gly2713=)
c.8100A= (p.Gly2700=)
c.8046A= (p.Gly2682=)
c.7950A= (p.Gly2650=)
c.7920A= (p.Gly2640=)
c.7845A= (p.Gly2615=)
c.7743A= (p.Gly2581=)
c.7374A= (p.Gly2458=)
5g.112843817A>CCA446211307APCc.8277A>C (p.Gly2759=)
c.*8229A>C (n.*8229A>C)
c.8169A>C (p.Gly2723=)
c.8223A>C (p.Gly2741=)
c.231-12832A>C
c.8253A>C (p.Gly2751=)
c.8148A>C (p.Gly2716=)
c.8139A>C (p.Gly2713=)
c.8100A>C (p.Gly2700=)
c.8046A>C (p.Gly2682=)
c.7950A>C (p.Gly2650=)
c.7920A>C (p.Gly2640=)
c.7845A>C (p.Gly2615=)
c.7743A>C (p.Gly2581=)
c.7374A>C (p.Gly2458=)
 dbSNP
5g.112843817A>GCA446211309APCc.8277A>G (p.Gly2759=)
c.*8229A>G (n.*8229A>G)
c.8169A>G (p.Gly2723=)
c.8223A>G (p.Gly2741=)
c.231-12832A>G
c.8253A>G (p.Gly2751=)
c.8148A>G (p.Gly2716=)
c.8139A>G (p.Gly2713=)
c.8100A>G (p.Gly2700=)
c.8046A>G (p.Gly2682=)
c.7950A>G (p.Gly2650=)
c.7920A>G (p.Gly2640=)
c.7845A>G (p.Gly2615=)
c.7743A>G (p.Gly2581=)
c.7374A>G (p.Gly2458=)
 ClinVar dbSNP
5g.112843817A>TCA446211310APCc.8277A>T (p.Gly2759=)
c.*8229A>T (n.*8229A>T)
c.8169A>T (p.Gly2723=)
c.8223A>T (p.Gly2741=)
c.231-12832A>T
c.8253A>T (p.Gly2751=)
c.8148A>T (p.Gly2716=)
c.8139A>T (p.Gly2713=)
c.8100A>T (p.Gly2700=)
c.8046A>T (p.Gly2682=)
c.7950A>T (p.Gly2650=)
c.7920A>T (p.Gly2640=)
c.7845A>T (p.Gly2615=)
c.7743A>T (p.Gly2581=)
c.7374A>T (p.Gly2458=)
 dbSNP gnomAD v4
5g.112843818C>ACA16039182APCc.8278C>A (p.Gln2760Lys)
c.*8230C>A (n.*8230C>A)
c.8170C>A (p.Gln2724Lys)
c.8224C>A (p.Gln2742Lys)
c.231-12831C>A
c.8254C>A (p.Gln2752Lys)
c.8149C>A (p.Gln2717Lys)
c.8140C>A (p.Gln2714Lys)
c.8101C>A (p.Gln2701Lys)
c.8047C>A (p.Gln2683Lys)
c.7951C>A (p.Gln2651Lys)
c.7921C>A (p.Gln2641Lys)
c.7846C>A (p.Gln2616Lys)
c.7744C>A (p.Gln2582Lys)
c.7375C>A (p.Gln2459Lys)
 dbSNP
5g.112843818C>GCA16039183APCc.8278C>G (p.Gln2760Glu)
c.*8230C>G (n.*8230C>G)
c.8170C>G (p.Gln2724Glu)
c.8224C>G (p.Gln2742Glu)
c.231-12831C>G
c.8254C>G (p.Gln2752Glu)
c.8149C>G (p.Gln2717Glu)
c.8140C>G (p.Gln2714Glu)
c.8101C>G (p.Gln2701Glu)
c.8047C>G (p.Gln2683Glu)
c.7951C>G (p.Gln2651Glu)
c.7921C>G (p.Gln2641Glu)
c.7846C>G (p.Gln2616Glu)
c.7744C>G (p.Gln2582Glu)
c.7375C>G (p.Gln2459Glu)
5g.112843818C>TCA16039184APCc.8278C>T (p.Gln2760Ter)
c.*8230C>T (n.*8230C>T)
c.8170C>T (p.Gln2724Ter)
c.8224C>T (p.Gln2742Ter)
c.231-12831C>T
c.8254C>T (p.Gln2752Ter)
c.8149C>T (p.Gln2717Ter)
c.8140C>T (p.Gln2714Ter)
c.8101C>T (p.Gln2701Ter)
c.8047C>T (p.Gln2683Ter)
c.7951C>T (p.Gln2651Ter)
c.7921C>T (p.Gln2641Ter)
c.7846C>T (p.Gln2616Ter)
c.7744C>T (p.Gln2582Ter)
c.7375C>T (p.Gln2459Ter)
5g.112843819A>CCA16039185APCc.8279A>C (p.Gln2760Pro)
c.*8231A>C (n.*8231A>C)
c.8171A>C (p.Gln2724Pro)
c.8225A>C (p.Gln2742Pro)
c.231-12830A>C
c.8255A>C (p.Gln2752Pro)
c.8150A>C (p.Gln2717Pro)
c.8141A>C (p.Gln2714Pro)
c.8102A>C (p.Gln2701Pro)
c.8048A>C (p.Gln2683Pro)
c.7952A>C (p.Gln2651Pro)
c.7922A>C (p.Gln2641Pro)
c.7847A>C (p.Gln2616Pro)
c.7745A>C (p.Gln2582Pro)
c.7376A>C (p.Gln2459Pro)
5g.112843819A>GCA16039186APCc.8279A>G (p.Gln2760Arg)
c.*8231A>G (n.*8231A>G)
c.8171A>G (p.Gln2724Arg)
c.8225A>G (p.Gln2742Arg)
c.231-12830A>G
c.8255A>G (p.Gln2752Arg)
c.8150A>G (p.Gln2717Arg)
c.8141A>G (p.Gln2714Arg)
c.8102A>G (p.Gln2701Arg)
c.8048A>G (p.Gln2683Arg)
c.7952A>G (p.Gln2651Arg)
c.7922A>G (p.Gln2641Arg)
c.7847A>G (p.Gln2616Arg)
c.7745A>G (p.Gln2582Arg)
c.7376A>G (p.Gln2459Arg)
5g.112843819A>TCA16039187APCc.8279A>T (p.Gln2760Leu)
c.*8231A>T (n.*8231A>T)
c.8171A>T (p.Gln2724Leu)
c.8225A>T (p.Gln2742Leu)
c.231-12830A>T
c.8255A>T (p.Gln2752Leu)
c.8150A>T (p.Gln2717Leu)
c.8141A>T (p.Gln2714Leu)
c.8102A>T (p.Gln2701Leu)
c.8048A>T (p.Gln2683Leu)
c.7952A>T (p.Gln2651Leu)
c.7922A>T (p.Gln2641Leu)
c.7847A>T (p.Gln2616Leu)
c.7745A>T (p.Gln2582Leu)
c.7376A>T (p.Gln2459Leu)
5g.112843820A=CA1573476963APCc.8280A= (p.Gln2760=)
c.*8232A= (n.*8232A=)
c.8172A= (p.Gln2724=)
c.8226A= (p.Gln2742=)
c.231-12829A=
c.8256A= (p.Gln2752=)
c.8151A= (p.Gln2717=)
c.8142A= (p.Gln2714=)
c.8103A= (p.Gln2701=)
c.8049A= (p.Gln2683=)
c.7953A= (p.Gln2651=)
c.7923A= (p.Gln2641=)
c.7848A= (p.Gln2616=)
c.7746A= (p.Gln2582=)
c.7377A= (p.Gln2459=)
5g.112843820A>CCA16039188APCc.8280A>C (p.Gln2760His)
c.*8232A>C (n.*8232A>C)
c.8172A>C (p.Gln2724His)
c.8226A>C (p.Gln2742His)
c.231-12829A>C
c.8256A>C (p.Gln2752His)
c.8151A>C (p.Gln2717His)
c.8142A>C (p.Gln2714His)
c.8103A>C (p.Gln2701His)
c.8049A>C (p.Gln2683His)
c.7953A>C (p.Gln2651His)
c.7923A>C (p.Gln2641His)
c.7848A>C (p.Gln2616His)
c.7746A>C (p.Gln2582His)
c.7377A>C (p.Gln2459His)
 ClinVar dbSNP
5g.112843820A>GCA446211314APCc.8280A>G (p.Gln2760=)
c.*8232A>G (n.*8232A>G)
c.8172A>G (p.Gln2724=)
c.8226A>G (p.Gln2742=)
c.231-12829A>G
c.8256A>G (p.Gln2752=)
c.8151A>G (p.Gln2717=)
c.8142A>G (p.Gln2714=)
c.8103A>G (p.Gln2701=)
c.8049A>G (p.Gln2683=)
c.7953A>G (p.Gln2651=)
c.7923A>G (p.Gln2641=)
c.7848A>G (p.Gln2616=)
c.7746A>G (p.Gln2582=)
c.7377A>G (p.Gln2459=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843820A>TCA16039189APCc.8280A>T (p.Gln2760His)
c.*8232A>T (n.*8232A>T)
c.8172A>T (p.Gln2724His)
c.8226A>T (p.Gln2742His)
c.231-12829A>T
c.8256A>T (p.Gln2752His)
c.8151A>T (p.Gln2717His)
c.8142A>T (p.Gln2714His)
c.8103A>T (p.Gln2701His)
c.8049A>T (p.Gln2683His)
c.7953A>T (p.Gln2651His)
c.7923A>T (p.Gln2641His)
c.7848A>T (p.Gln2616His)
c.7746A>T (p.Gln2582His)
c.7377A>T (p.Gln2459His)
 dbSNP
5g.112843820_112843823delinsAAATCA1573476962APCc.8280_8283delinsAAAT (p.Gln2760=)
c.*8232_*8235delinsAAAT (n.*8232_*8235delinsAAAT)
c.8172_8175delinsAAAT (p.Gln2724=)
c.8226_8229delinsAAAT (p.Gln2742=)
c.231-12829_231-12826delinsAAAT
c.8256_8259delinsAAAT (p.Gln2752=)
c.8151_8154delinsAAAT (p.Gln2717=)
c.8142_8145delinsAAAT (p.Gln2714=)
c.8103_8106delinsAAAT (p.Gln2701=)
c.8049_8052delinsAAAT (p.Gln2683=)
c.7953_7956delinsAAAT (p.Gln2651=)
c.7923_7926delinsAAAT (p.Gln2641=)
c.7848_7851delinsAAAT (p.Gln2616=)
c.7746_7749delinsAAAT (p.Gln2582=)
c.7377_7380delinsAAAT (p.Gln2459=)
5g.112843821A>CCA16039190APCc.8281A>C (p.Asn2761His)
c.*8233A>C (n.*8233A>C)
c.8173A>C (p.Asn2725His)
c.8227A>C (p.Asn2743His)
c.231-12828A>C
c.8257A>C (p.Asn2753His)
c.8152A>C (p.Asn2718His)
c.8143A>C (p.Asn2715His)
c.8104A>C (p.Asn2702His)
c.8050A>C (p.Asn2684His)
c.7954A>C (p.Asn2652His)
c.7924A>C (p.Asn2642His)
c.7849A>C (p.Asn2617His)
c.7747A>C (p.Asn2583His)
c.7378A>C (p.Asn2460His)
5g.112843821A>GCA16039191APCc.8281A>G (p.Asn2761Asp)
c.*8233A>G (n.*8233A>G)
c.8173A>G (p.Asn2725Asp)
c.8227A>G (p.Asn2743Asp)
c.231-12828A>G
c.8257A>G (p.Asn2753Asp)
c.8152A>G (p.Asn2718Asp)
c.8143A>G (p.Asn2715Asp)
c.8104A>G (p.Asn2702Asp)
c.8050A>G (p.Asn2684Asp)
c.7954A>G (p.Asn2652Asp)
c.7924A>G (p.Asn2642Asp)
c.7849A>G (p.Asn2617Asp)
c.7747A>G (p.Asn2583Asp)
c.7378A>G (p.Asn2460Asp)
 ClinVar dbSNP
5g.112843821A>TCA16039192APCc.8281A>T (p.Asn2761Tyr)
c.*8233A>T (n.*8233A>T)
c.8173A>T (p.Asn2725Tyr)
c.8227A>T (p.Asn2743Tyr)
c.231-12828A>T
c.8257A>T (p.Asn2753Tyr)
c.8152A>T (p.Asn2718Tyr)
c.8143A>T (p.Asn2715Tyr)
c.8104A>T (p.Asn2702Tyr)
c.8050A>T (p.Asn2684Tyr)
c.7954A>T (p.Asn2652Tyr)
c.7924A>T (p.Asn2642Tyr)
c.7849A>T (p.Asn2617Tyr)
c.7747A>T (p.Asn2583Tyr)
c.7378A>T (p.Asn2460Tyr)
 dbSNP
5g.112843824_112843826delCA050220APCc.8284_8286del (p.Asn2762del)
c.*8236_*8238del (n.*8236_*8238del)
c.8176_8178del (p.Asn2726del)
c.8230_8232del (p.Asn2744del)
c.231-12825_231-12823del
c.8260_8262del (p.Asn2754del)
c.8155_8157del (p.Asn2719del)
c.8146_8148del (p.Asn2716del)
c.8107_8109del (p.Asn2703del)
c.8053_8055del (p.Asn2685del)
c.7957_7959del (p.Asn2653del)
c.7927_7929del (p.Asn2643del)
c.7852_7854del (p.Asn2618del)
c.7750_7752del (p.Asn2584del)
c.7381_7383del (p.Asn2461del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843822A=CA1573476972APCc.8282A= (p.Asn2761=)
c.*8234A= (n.*8234A=)
c.8174A= (p.Asn2725=)
c.8228A= (p.Asn2743=)
c.231-12827A=
c.8258A= (p.Asn2753=)
c.8153A= (p.Asn2718=)
c.8144A= (p.Asn2715=)
c.8105A= (p.Asn2702=)
c.8051A= (p.Asn2684=)
c.7955A= (p.Asn2652=)
c.7925A= (p.Asn2642=)
c.7850A= (p.Asn2617=)
c.7748A= (p.Asn2583=)
c.7379A= (p.Asn2460=)
5g.112843822A>CCA16039193APCc.8282A>C (p.Asn2761Thr)
c.*8234A>C (n.*8234A>C)
c.8174A>C (p.Asn2725Thr)
c.8228A>C (p.Asn2743Thr)
c.231-12827A>C
c.8258A>C (p.Asn2753Thr)
c.8153A>C (p.Asn2718Thr)
c.8144A>C (p.Asn2715Thr)
c.8105A>C (p.Asn2702Thr)
c.8051A>C (p.Asn2684Thr)
c.7955A>C (p.Asn2652Thr)
c.7925A>C (p.Asn2642Thr)
c.7850A>C (p.Asn2617Thr)
c.7748A>C (p.Asn2583Thr)
c.7379A>C (p.Asn2460Thr)
 dbSNP
5g.112843822A>GCA050243APCc.8282A>G (p.Asn2761Ser)
c.*8234A>G (n.*8234A>G)
c.8174A>G (p.Asn2725Ser)
c.8228A>G (p.Asn2743Ser)
c.231-12827A>G
c.8258A>G (p.Asn2753Ser)
c.8153A>G (p.Asn2718Ser)
c.8144A>G (p.Asn2715Ser)
c.8105A>G (p.Asn2702Ser)
c.8051A>G (p.Asn2684Ser)
c.7955A>G (p.Asn2652Ser)
c.7925A>G (p.Asn2642Ser)
c.7850A>G (p.Asn2617Ser)
c.7748A>G (p.Asn2583Ser)
c.7379A>G (p.Asn2460Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843822A>TCA16039194APCc.8282A>T (p.Asn2761Ile)
c.*8234A>T (n.*8234A>T)
c.8174A>T (p.Asn2725Ile)
c.8228A>T (p.Asn2743Ile)
c.231-12827A>T
c.8258A>T (p.Asn2753Ile)
c.8153A>T (p.Asn2718Ile)
c.8144A>T (p.Asn2715Ile)
c.8105A>T (p.Asn2702Ile)
c.8051A>T (p.Asn2684Ile)
c.7955A>T (p.Asn2652Ile)
c.7925A>T (p.Asn2642Ile)
c.7850A>T (p.Asn2617Ile)
c.7748A>T (p.Asn2583Ile)
c.7379A>T (p.Asn2460Ile)
 dbSNP
5g.112843823T>ACA16039195APCc.8283T>A (p.Asn2761Lys)
c.*8235T>A (n.*8235T>A)
c.8175T>A (p.Asn2725Lys)
c.8229T>A (p.Asn2743Lys)
c.231-12826T>A
c.8259T>A (p.Asn2753Lys)
c.8154T>A (p.Asn2718Lys)
c.8145T>A (p.Asn2715Lys)
c.8106T>A (p.Asn2702Lys)
c.8052T>A (p.Asn2684Lys)
c.7956T>A (p.Asn2652Lys)
c.7926T>A (p.Asn2642Lys)
c.7851T>A (p.Asn2617Lys)
c.7749T>A (p.Asn2583Lys)
c.7380T>A (p.Asn2460Lys)
5g.112843823T>CCA446211319APCc.8283T>C (p.Asn2761=)
c.*8235T>C (n.*8235T>C)
c.8175T>C (p.Asn2725=)
c.8229T>C (p.Asn2743=)
c.231-12826T>C
c.8259T>C (p.Asn2753=)
c.8154T>C (p.Asn2718=)
c.8145T>C (p.Asn2715=)
c.8106T>C (p.Asn2702=)
c.8052T>C (p.Asn2684=)
c.7956T>C (p.Asn2652=)
c.7926T>C (p.Asn2642=)
c.7851T>C (p.Asn2617=)
c.7749T>C (p.Asn2583=)
c.7380T>C (p.Asn2460=)
 dbSNP
5g.112843823T>GCA16039196APCc.8283T>G (p.Asn2761Lys)
c.*8235T>G (n.*8235T>G)
c.8175T>G (p.Asn2725Lys)
c.8229T>G (p.Asn2743Lys)
c.231-12826T>G
c.8259T>G (p.Asn2753Lys)
c.8154T>G (p.Asn2718Lys)
c.8145T>G (p.Asn2715Lys)
c.8106T>G (p.Asn2702Lys)
c.8052T>G (p.Asn2684Lys)
c.7956T>G (p.Asn2652Lys)
c.7926T>G (p.Asn2642Lys)
c.7851T>G (p.Asn2617Lys)
c.7749T>G (p.Asn2583Lys)
c.7380T>G (p.Asn2460Lys)
 ClinVar dbSNP
5g.112843823T=CA1573476987APCc.8283T= (p.Asn2761=)
c.*8235T= (n.*8235T=)
c.8175T= (p.Asn2725=)
c.8229T= (p.Asn2743=)
c.231-12826T=
c.8259T= (p.Asn2753=)
c.8154T= (p.Asn2718=)
c.8145T= (p.Asn2715=)
c.8106T= (p.Asn2702=)
c.8052T= (p.Asn2684=)
c.7956T= (p.Asn2652=)
c.7926T= (p.Asn2642=)
c.7851T= (p.Asn2617=)
c.7749T= (p.Asn2583=)
c.7380T= (p.Asn2460=)
5g.112843824A=CA1573476995APCc.8284A= (p.Asn2762=)
c.*8236A= (n.*8236A=)
c.8176A= (p.Asn2726=)
c.8230A= (p.Asn2744=)
c.231-12825A=
c.8260A= (p.Asn2754=)
c.8155A= (p.Asn2719=)
c.8146A= (p.Asn2716=)
c.8107A= (p.Asn2703=)
c.8053A= (p.Asn2685=)
c.7957A= (p.Asn2653=)
c.7927A= (p.Asn2643=)
c.7852A= (p.Asn2618=)
c.7750A= (p.Asn2584=)
c.7381A= (p.Asn2461=)
5g.112843824A>CCA16039197APCc.8284A>C (p.Asn2762His)
c.*8236A>C (n.*8236A>C)
c.8176A>C (p.Asn2726His)
c.8230A>C (p.Asn2744His)
c.231-12825A>C
c.8260A>C (p.Asn2754His)
c.8155A>C (p.Asn2719His)
c.8146A>C (p.Asn2716His)
c.8107A>C (p.Asn2703His)
c.8053A>C (p.Asn2685His)
c.7957A>C (p.Asn2653His)
c.7927A>C (p.Asn2643His)
c.7852A>C (p.Asn2618His)
c.7750A>C (p.Asn2584His)
c.7381A>C (p.Asn2461His)
 dbSNP gnomAD v4
5g.112843824A>GCA050261APCc.8284A>G (p.Asn2762Asp)
c.*8236A>G (n.*8236A>G)
c.8176A>G (p.Asn2726Asp)
c.8230A>G (p.Asn2744Asp)
c.231-12825A>G
c.8260A>G (p.Asn2754Asp)
c.8155A>G (p.Asn2719Asp)
c.8146A>G (p.Asn2716Asp)
c.8107A>G (p.Asn2703Asp)
c.8053A>G (p.Asn2685Asp)
c.7957A>G (p.Asn2653Asp)
c.7927A>G (p.Asn2643Asp)
c.7852A>G (p.Asn2618Asp)
c.7750A>G (p.Asn2584Asp)
c.7381A>G (p.Asn2461Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843824A>TCA16039198APCc.8284A>T (p.Asn2762Tyr)
c.*8236A>T (n.*8236A>T)
c.8176A>T (p.Asn2726Tyr)
c.8230A>T (p.Asn2744Tyr)
c.231-12825A>T
c.8260A>T (p.Asn2754Tyr)
c.8155A>T (p.Asn2719Tyr)
c.8146A>T (p.Asn2716Tyr)
c.8107A>T (p.Asn2703Tyr)
c.8053A>T (p.Asn2685Tyr)
c.7957A>T (p.Asn2653Tyr)
c.7927A>T (p.Asn2643Tyr)
c.7852A>T (p.Asn2618Tyr)
c.7750A>T (p.Asn2584Tyr)
c.7381A>T (p.Asn2461Tyr)
 dbSNP
5g.112843825delCA2697546417APCc.8285del (p.Asn2762IlefsTer13)
c.*8237del (n.*8237del)
c.8177del (p.Asn2726IlefsTer13)
c.8231del (p.Asn2744IlefsTer13)
c.231-12824del
c.8261del (p.Asn2754IlefsTer13)
c.8156del (p.Asn2719IlefsTer13)
c.8147del (p.Asn2716IlefsTer13)
c.8108del (p.Asn2703IlefsTer13)
c.8054del (p.Asn2685IlefsTer13)
c.7958del (p.Asn2653IlefsTer13)
c.7928del (p.Asn2643IlefsTer13)
c.7853del (p.Asn2618IlefsTer13)
c.7751del (p.Asn2584IlefsTer13)
c.7382del (p.Asn2461IlefsTer13)
 ClinVar
5g.112843825A>CCA16039199APCc.8285A>C (p.Asn2762Thr)
c.*8237A>C (n.*8237A>C)
c.8177A>C (p.Asn2726Thr)
c.8231A>C (p.Asn2744Thr)
c.231-12824A>C
c.8261A>C (p.Asn2754Thr)
c.8156A>C (p.Asn2719Thr)
c.8147A>C (p.Asn2716Thr)
c.8108A>C (p.Asn2703Thr)
c.8054A>C (p.Asn2685Thr)
c.7958A>C (p.Asn2653Thr)
c.7928A>C (p.Asn2643Thr)
c.7853A>C (p.Asn2618Thr)
c.7751A>C (p.Asn2584Thr)
c.7382A>C (p.Asn2461Thr)
5g.112843825A>GCA16039200APCc.8285A>G (p.Asn2762Ser)
c.*8237A>G (n.*8237A>G)
c.8177A>G (p.Asn2726Ser)
c.8231A>G (p.Asn2744Ser)
c.231-12824A>G
c.8261A>G (p.Asn2754Ser)
c.8156A>G (p.Asn2719Ser)
c.8147A>G (p.Asn2716Ser)
c.8108A>G (p.Asn2703Ser)
c.8054A>G (p.Asn2685Ser)
c.7958A>G (p.Asn2653Ser)
c.7928A>G (p.Asn2643Ser)
c.7853A>G (p.Asn2618Ser)
c.7751A>G (p.Asn2584Ser)
c.7382A>G (p.Asn2461Ser)
 ClinVar
5g.112843825A>TCA16039201APCc.8285A>T (p.Asn2762Ile)
c.*8237A>T (n.*8237A>T)
c.8177A>T (p.Asn2726Ile)
c.8231A>T (p.Asn2744Ile)
c.231-12824A>T
c.8261A>T (p.Asn2754Ile)
c.8156A>T (p.Asn2719Ile)
c.8147A>T (p.Asn2716Ile)
c.8108A>T (p.Asn2703Ile)
c.8054A>T (p.Asn2685Ile)
c.7958A>T (p.Asn2653Ile)
c.7928A>T (p.Asn2643Ile)
c.7853A>T (p.Asn2618Ile)
c.7751A>T (p.Asn2584Ile)
c.7382A>T (p.Asn2461Ile)
 dbSNP
5g.112843826T>ACA16039202APCc.8286T>A (p.Asn2762Lys)
c.*8238T>A (n.*8238T>A)
c.8178T>A (p.Asn2726Lys)
c.8232T>A (p.Asn2744Lys)
c.231-12823T>A
c.8262T>A (p.Asn2754Lys)
c.8157T>A (p.Asn2719Lys)
c.8148T>A (p.Asn2716Lys)
c.8109T>A (p.Asn2703Lys)
c.8055T>A (p.Asn2685Lys)
c.7959T>A (p.Asn2653Lys)
c.7929T>A (p.Asn2643Lys)
c.7854T>A (p.Asn2618Lys)
c.7752T>A (p.Asn2584Lys)
c.7383T>A (p.Asn2461Lys)
 ClinVar
5g.112843826T>CCA446211322APCc.8286T>C (p.Asn2762=)
c.*8238T>C (n.*8238T>C)
c.8178T>C (p.Asn2726=)
c.8232T>C (p.Asn2744=)
c.231-12823T>C
c.8262T>C (p.Asn2754=)
c.8157T>C (p.Asn2719=)
c.8148T>C (p.Asn2716=)
c.8109T>C (p.Asn2703=)
c.8055T>C (p.Asn2685=)
c.7959T>C (p.Asn2653=)
c.7929T>C (p.Asn2643=)
c.7854T>C (p.Asn2618=)
c.7752T>C (p.Asn2584=)
c.7383T>C (p.Asn2461=)
5g.112843826T>GCA16039203APCc.8286T>G (p.Asn2762Lys)
c.*8238T>G (n.*8238T>G)
c.8178T>G (p.Asn2726Lys)
c.8232T>G (p.Asn2744Lys)
c.231-12823T>G
c.8262T>G (p.Asn2754Lys)
c.8157T>G (p.Asn2719Lys)
c.8148T>G (p.Asn2716Lys)
c.8109T>G (p.Asn2703Lys)
c.8055T>G (p.Asn2685Lys)
c.7959T>G (p.Asn2653Lys)
c.7929T>G (p.Asn2643Lys)
c.7854T>G (p.Asn2618Lys)
c.7752T>G (p.Asn2584Lys)
c.7383T>G (p.Asn2461Lys)
5g.112843827C>ACA014450APCc.8287C>A (p.Pro2763Thr)
c.*8239C>A (n.*8239C>A)
c.8179C>A (p.Pro2727Thr)
c.8233C>A (p.Pro2745Thr)
c.231-12822C>A
c.8263C>A (p.Pro2755Thr)
c.8158C>A (p.Pro2720Thr)
c.8149C>A (p.Pro2717Thr)
c.8110C>A (p.Pro2704Thr)
c.8056C>A (p.Pro2686Thr)
c.7960C>A (p.Pro2654Thr)
c.7930C>A (p.Pro2644Thr)
c.7855C>A (p.Pro2619Thr)
c.7753C>A (p.Pro2585Thr)
c.7384C>A (p.Pro2462Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843827C=CA1573477006APCc.8287C= (p.Pro2763=)
c.*8239C= (n.*8239C=)
c.8179C= (p.Pro2727=)
c.8233C= (p.Pro2745=)
c.231-12822C=
c.8263C= (p.Pro2755=)
c.8158C= (p.Pro2720=)
c.8149C= (p.Pro2717=)
c.8110C= (p.Pro2704=)
c.8056C= (p.Pro2686=)
c.7960C= (p.Pro2654=)
c.7930C= (p.Pro2644=)
c.7855C= (p.Pro2619=)
c.7753C= (p.Pro2585=)
c.7384C= (p.Pro2462=)
5g.112843827C>GCA16039204APCc.8287C>G (p.Pro2763Ala)
c.*8239C>G (n.*8239C>G)
c.8179C>G (p.Pro2727Ala)
c.8233C>G (p.Pro2745Ala)
c.231-12822C>G
c.8263C>G (p.Pro2755Ala)
c.8158C>G (p.Pro2720Ala)
c.8149C>G (p.Pro2717Ala)
c.8110C>G (p.Pro2704Ala)
c.8056C>G (p.Pro2686Ala)
c.7960C>G (p.Pro2654Ala)
c.7930C>G (p.Pro2644Ala)
c.7855C>G (p.Pro2619Ala)
c.7753C>G (p.Pro2585Ala)
c.7384C>G (p.Pro2462Ala)
 dbSNP
5g.112843827C>TCA10578460APCc.8287C>T (p.Pro2763Ser)
c.*8239C>T (n.*8239C>T)
c.8179C>T (p.Pro2727Ser)
c.8233C>T (p.Pro2745Ser)
c.231-12822C>T
c.8263C>T (p.Pro2755Ser)
c.8158C>T (p.Pro2720Ser)
c.8149C>T (p.Pro2717Ser)
c.8110C>T (p.Pro2704Ser)
c.8056C>T (p.Pro2686Ser)
c.7960C>T (p.Pro2654Ser)
c.7930C>T (p.Pro2644Ser)
c.7855C>T (p.Pro2619Ser)
c.7753C>T (p.Pro2585Ser)
c.7384C>T (p.Pro2462Ser)
 ClinVar dbSNP COSMIC
5g.112843828C>ACA16039205APCc.8288C>A (p.Pro2763His)
c.*8240C>A (n.*8240C>A)
c.8180C>A (p.Pro2727His)
c.8234C>A (p.Pro2745His)
c.231-12821C>A
c.8264C>A (p.Pro2755His)
c.8159C>A (p.Pro2720His)
c.8150C>A (p.Pro2717His)
c.8111C>A (p.Pro2704His)
c.8057C>A (p.Pro2686His)
c.7961C>A (p.Pro2654His)
c.7931C>A (p.Pro2644His)
c.7856C>A (p.Pro2619His)
c.7754C>A (p.Pro2585His)
c.7385C>A (p.Pro2462His)
 ClinVar dbSNP
5g.112843828C=CA1573477015APCc.8288C= (p.Pro2763=)
c.*8240C= (n.*8240C=)
c.8180C= (p.Pro2727=)
c.8234C= (p.Pro2745=)
c.231-12821C=
c.8264C= (p.Pro2755=)
c.8159C= (p.Pro2720=)
c.8150C= (p.Pro2717=)
c.8111C= (p.Pro2704=)
c.8057C= (p.Pro2686=)
c.7961C= (p.Pro2654=)
c.7931C= (p.Pro2644=)
c.7856C= (p.Pro2619=)
c.7754C= (p.Pro2585=)
c.7385C= (p.Pro2462=)
5g.112843828C>GCA16039206APCc.8288C>G (p.Pro2763Arg)
c.*8240C>G (n.*8240C>G)
c.8180C>G (p.Pro2727Arg)
c.8234C>G (p.Pro2745Arg)
c.231-12821C>G
c.8264C>G (p.Pro2755Arg)
c.8159C>G (p.Pro2720Arg)
c.8150C>G (p.Pro2717Arg)
c.8111C>G (p.Pro2704Arg)
c.8057C>G (p.Pro2686Arg)
c.7961C>G (p.Pro2654Arg)
c.7931C>G (p.Pro2644Arg)
c.7856C>G (p.Pro2619Arg)
c.7754C>G (p.Pro2585Arg)
c.7385C>G (p.Pro2462Arg)
 ClinVar dbSNP
5g.112843828C>TCA050281APCc.8288C>T (p.Pro2763Leu)
c.*8240C>T (n.*8240C>T)
c.8180C>T (p.Pro2727Leu)
c.8234C>T (p.Pro2745Leu)
c.231-12821C>T
c.8264C>T (p.Pro2755Leu)
c.8159C>T (p.Pro2720Leu)
c.8150C>T (p.Pro2717Leu)
c.8111C>T (p.Pro2704Leu)
c.8057C>T (p.Pro2686Leu)
c.7961C>T (p.Pro2654Leu)
c.7931C>T (p.Pro2644Leu)
c.7856C>T (p.Pro2619Leu)
c.7754C>T (p.Pro2585Leu)
c.7385C>T (p.Pro2462Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843829T>ACA014461APCc.8289T>A (p.Pro2763=)
c.*8241T>A (n.*8241T>A)
c.8181T>A (p.Pro2727=)
c.8235T>A (p.Pro2745=)
c.231-12820T>A
c.8265T>A (p.Pro2755=)
c.8160T>A (p.Pro2720=)
c.8151T>A (p.Pro2717=)
c.8112T>A (p.Pro2704=)
c.8058T>A (p.Pro2686=)
c.7962T>A (p.Pro2654=)
c.7932T>A (p.Pro2644=)
c.7857T>A (p.Pro2619=)
c.7755T>A (p.Pro2585=)
c.7386T>A (p.Pro2462=)
 ClinVar dbSNP
5g.112843829T>CCA10578461APCc.8289T>C (p.Pro2763=)
c.*8241T>C (n.*8241T>C)
c.8181T>C (p.Pro2727=)
c.8235T>C (p.Pro2745=)
c.231-12820T>C
c.8265T>C (p.Pro2755=)
c.8160T>C (p.Pro2720=)
c.8151T>C (p.Pro2717=)
c.8112T>C (p.Pro2704=)
c.8058T>C (p.Pro2686=)
c.7962T>C (p.Pro2654=)
c.7932T>C (p.Pro2644=)
c.7857T>C (p.Pro2619=)
c.7755T>C (p.Pro2585=)
c.7386T>C (p.Pro2462=)
 ClinVar dbSNP gnomAD v4
5g.112843829T>GCA446211324APCc.8289T>G (p.Pro2763=)
c.*8241T>G (n.*8241T>G)
c.8181T>G (p.Pro2727=)
c.8235T>G (p.Pro2745=)
c.231-12820T>G
c.8265T>G (p.Pro2755=)
c.8160T>G (p.Pro2720=)
c.8151T>G (p.Pro2717=)
c.8112T>G (p.Pro2704=)
c.8058T>G (p.Pro2686=)
c.7962T>G (p.Pro2654=)
c.7932T>G (p.Pro2644=)
c.7857T>G (p.Pro2619=)
c.7755T>G (p.Pro2585=)
c.7386T>G (p.Pro2462=)
5g.112843829T=CA1573477023APCc.8289T= (p.Pro2763=)
c.*8241T= (n.*8241T=)
c.8181T= (p.Pro2727=)
c.8235T= (p.Pro2745=)
c.231-12820T=
c.8265T= (p.Pro2755=)
c.8160T= (p.Pro2720=)
c.8151T= (p.Pro2717=)
c.8112T= (p.Pro2704=)
c.8058T= (p.Pro2686=)
c.7962T= (p.Pro2654=)
c.7932T= (p.Pro2644=)
c.7857T= (p.Pro2619=)
c.7755T= (p.Pro2585=)
c.7386T= (p.Pro2462=)
5g.112843830G>ACA16039207APCc.8290G>A (p.Val2764Ile)
c.*8242G>A (n.*8242G>A)
c.8182G>A (p.Val2728Ile)
c.8236G>A (p.Val2746Ile)
c.231-12819G>A
c.8266G>A (p.Val2756Ile)
c.8161G>A (p.Val2721Ile)
c.8152G>A (p.Val2718Ile)
c.8113G>A (p.Val2705Ile)
c.8059G>A (p.Val2687Ile)
c.7963G>A (p.Val2655Ile)
c.7933G>A (p.Val2645Ile)
c.7858G>A (p.Val2620Ile)
c.7756G>A (p.Val2586Ile)
c.7387G>A (p.Val2463Ile)
 dbSNP gnomAD v4
5g.112843830G>CCA16039208APCc.8290G>C (p.Val2764Leu)
c.*8242G>C (n.*8242G>C)
c.8182G>C (p.Val2728Leu)
c.8236G>C (p.Val2746Leu)
c.231-12819G>C
c.8266G>C (p.Val2756Leu)
c.8161G>C (p.Val2721Leu)
c.8152G>C (p.Val2718Leu)
c.8113G>C (p.Val2705Leu)
c.8059G>C (p.Val2687Leu)
c.7963G>C (p.Val2655Leu)
c.7933G>C (p.Val2645Leu)
c.7858G>C (p.Val2620Leu)
c.7756G>C (p.Val2586Leu)
c.7387G>C (p.Val2463Leu)
 dbSNP
5g.112843830G=CA1573477056APCc.8290G= (p.Val2764=)
c.*8242G= (n.*8242G=)
c.8182G= (p.Val2728=)
c.8236G= (p.Val2746=)
c.231-12819G=
c.8266G= (p.Val2756=)
c.8161G= (p.Val2721=)
c.8152G= (p.Val2718=)
c.8113G= (p.Val2705=)
c.8059G= (p.Val2687=)
c.7963G= (p.Val2655=)
c.7933G= (p.Val2645=)
c.7858G= (p.Val2620=)
c.7756G= (p.Val2586=)
c.7387G= (p.Val2463=)
5g.112843830G>TCA16039209APCc.8290G>T (p.Val2764Phe)
c.*8242G>T (n.*8242G>T)
c.8182G>T (p.Val2728Phe)
c.8236G>T (p.Val2746Phe)
c.231-12819G>T
c.8266G>T (p.Val2756Phe)
c.8161G>T (p.Val2721Phe)
c.8152G>T (p.Val2718Phe)
c.8113G>T (p.Val2705Phe)
c.8059G>T (p.Val2687Phe)
c.7963G>T (p.Val2655Phe)
c.7933G>T (p.Val2645Phe)
c.7858G>T (p.Val2620Phe)
c.7756G>T (p.Val2586Phe)
c.7387G>T (p.Val2463Phe)
 ClinVar dbSNP
5g.112843831T>ACA16039210APCc.8291T>A (p.Val2764Asp)
c.*8243T>A (n.*8243T>A)
c.8183T>A (p.Val2728Asp)
c.8237T>A (p.Val2746Asp)
c.231-12818T>A
c.8267T>A (p.Val2756Asp)
c.8162T>A (p.Val2721Asp)
c.8153T>A (p.Val2718Asp)
c.8114T>A (p.Val2705Asp)
c.8060T>A (p.Val2687Asp)
c.7964T>A (p.Val2655Asp)
c.7934T>A (p.Val2645Asp)
c.7859T>A (p.Val2620Asp)
c.7757T>A (p.Val2586Asp)
c.7388T>A (p.Val2463Asp)
5g.112843831T>CCA050294APCc.8291T>C (p.Val2764Ala)
c.*8243T>C (n.*8243T>C)
c.8183T>C (p.Val2728Ala)
c.8237T>C (p.Val2746Ala)
c.231-12818T>C
c.8267T>C (p.Val2756Ala)
c.8162T>C (p.Val2721Ala)
c.8153T>C (p.Val2718Ala)
c.8114T>C (p.Val2705Ala)
c.8060T>C (p.Val2687Ala)
c.7964T>C (p.Val2655Ala)
c.7934T>C (p.Val2645Ala)
c.7859T>C (p.Val2620Ala)
c.7757T>C (p.Val2586Ala)
c.7388T>C (p.Val2463Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843831T>GCA16039211APCc.8291T>G (p.Val2764Gly)
c.*8243T>G (n.*8243T>G)
c.8183T>G (p.Val2728Gly)
c.8237T>G (p.Val2746Gly)
c.231-12818T>G
c.8267T>G (p.Val2756Gly)
c.8162T>G (p.Val2721Gly)
c.8153T>G (p.Val2718Gly)
c.8114T>G (p.Val2705Gly)
c.8060T>G (p.Val2687Gly)
c.7964T>G (p.Val2655Gly)
c.7934T>G (p.Val2645Gly)
c.7859T>G (p.Val2620Gly)
c.7757T>G (p.Val2586Gly)
c.7388T>G (p.Val2463Gly)
 ClinVar dbSNP
5g.112843831T=CA1573477064APCc.8291T= (p.Val2764=)
c.*8243T= (n.*8243T=)
c.8183T= (p.Val2728=)
c.8237T= (p.Val2746=)
c.231-12818T=
c.8267T= (p.Val2756=)
c.8162T= (p.Val2721=)
c.8153T= (p.Val2718=)
c.8114T= (p.Val2705=)
c.8060T= (p.Val2687=)
c.7964T= (p.Val2655=)
c.7934T= (p.Val2645=)
c.7859T= (p.Val2620=)
c.7757T= (p.Val2586=)
c.7388T= (p.Val2463=)
5g.112843832C>ACA446211328APCc.8292C>A (p.Val2764=)
c.*8244C>A (n.*8244C>A)
c.8184C>A (p.Val2728=)
c.8238C>A (p.Val2746=)
c.231-12817C>A
c.8268C>A (p.Val2756=)
c.8163C>A (p.Val2721=)
c.8154C>A (p.Val2718=)
c.8115C>A (p.Val2705=)
c.8061C>A (p.Val2687=)
c.7965C>A (p.Val2655=)
c.7935C>A (p.Val2645=)
c.7860C>A (p.Val2620=)
c.7758C>A (p.Val2586=)
c.7389C>A (p.Val2463=)
 dbSNP
5g.112843832C=CA1573477071APCc.8292C= (p.Val2764=)
c.*8244C= (n.*8244C=)
c.8184C= (p.Val2728=)
c.8238C= (p.Val2746=)
c.231-12817C=
c.8268C= (p.Val2756=)
c.8163C= (p.Val2721=)
c.8154C= (p.Val2718=)
c.8115C= (p.Val2705=)
c.8061C= (p.Val2687=)
c.7965C= (p.Val2655=)
c.7935C= (p.Val2645=)
c.7860C= (p.Val2620=)
c.7758C= (p.Val2586=)
c.7389C= (p.Val2463=)
5g.112843832C>GCA446211330APCc.8292C>G (p.Val2764=)
c.*8244C>G (n.*8244C>G)
c.8184C>G (p.Val2728=)
c.8238C>G (p.Val2746=)
c.231-12817C>G
c.8268C>G (p.Val2756=)
c.8163C>G (p.Val2721=)
c.8154C>G (p.Val2718=)
c.8115C>G (p.Val2705=)
c.8061C>G (p.Val2687=)
c.7965C>G (p.Val2655=)
c.7935C>G (p.Val2645=)
c.7860C>G (p.Val2620=)
c.7758C>G (p.Val2586=)
c.7389C>G (p.Val2463=)
 dbSNP
5g.112843832C>TCA446211331APCc.8292C>T (p.Val2764=)
c.*8244C>T (n.*8244C>T)
c.8184C>T (p.Val2728=)
c.8238C>T (p.Val2746=)
c.231-12817C>T
c.8268C>T (p.Val2756=)
c.8163C>T (p.Val2721=)
c.8154C>T (p.Val2718=)
c.8115C>T (p.Val2705=)
c.8061C>T (p.Val2687=)
c.7965C>T (p.Val2655=)
c.7935C>T (p.Val2645=)
c.7860C>T (p.Val2620=)
c.7758C>T (p.Val2586=)
c.7389C>T (p.Val2463=)
 ClinVar dbSNP gnomAD v4
5g.112843833C>ACA16039212APCc.8293C>A (p.Pro2765Thr)
c.*8245C>A (n.*8245C>A)
c.8185C>A (p.Pro2729Thr)
c.8239C>A (p.Pro2747Thr)
c.231-12816C>A
c.8269C>A (p.Pro2757Thr)
c.8164C>A (p.Pro2722Thr)
c.8155C>A (p.Pro2719Thr)
c.8116C>A (p.Pro2706Thr)
c.8062C>A (p.Pro2688Thr)
c.7966C>A (p.Pro2656Thr)
c.7936C>A (p.Pro2646Thr)
c.7861C>A (p.Pro2621Thr)
c.7759C>A (p.Pro2587Thr)
c.7390C>A (p.Pro2464Thr)
 dbSNP
5g.112843833C=CA1573477077APCc.8293C= (p.Pro2765=)
c.*8245C= (n.*8245C=)
c.8185C= (p.Pro2729=)
c.8239C= (p.Pro2747=)
c.231-12816C=
c.8269C= (p.Pro2757=)
c.8164C= (p.Pro2722=)
c.8155C= (p.Pro2719=)
c.8116C= (p.Pro2706=)
c.8062C= (p.Pro2688=)
c.7966C= (p.Pro2656=)
c.7936C= (p.Pro2646=)
c.7861C= (p.Pro2621=)
c.7759C= (p.Pro2587=)
c.7390C= (p.Pro2464=)
5g.112843833C>GCA16039213APCc.8293C>G (p.Pro2765Ala)
c.*8245C>G (n.*8245C>G)
c.8185C>G (p.Pro2729Ala)
c.8239C>G (p.Pro2747Ala)
c.231-12816C>G
c.8269C>G (p.Pro2757Ala)
c.8164C>G (p.Pro2722Ala)
c.8155C>G (p.Pro2719Ala)
c.8116C>G (p.Pro2706Ala)
c.8062C>G (p.Pro2688Ala)
c.7966C>G (p.Pro2656Ala)
c.7936C>G (p.Pro2646Ala)
c.7861C>G (p.Pro2621Ala)
c.7759C>G (p.Pro2587Ala)
c.7390C>G (p.Pro2464Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843833C>TCA16039214APCc.8293C>T (p.Pro2765Ser)
c.*8245C>T (n.*8245C>T)
c.8185C>T (p.Pro2729Ser)
c.8239C>T (p.Pro2747Ser)
c.231-12816C>T
c.8269C>T (p.Pro2757Ser)
c.8164C>T (p.Pro2722Ser)
c.8155C>T (p.Pro2719Ser)
c.8116C>T (p.Pro2706Ser)
c.8062C>T (p.Pro2688Ser)
c.7966C>T (p.Pro2656Ser)
c.7936C>T (p.Pro2646Ser)
c.7861C>T (p.Pro2621Ser)
c.7759C>T (p.Pro2587Ser)
c.7390C>T (p.Pro2464Ser)
 ClinVar dbSNP
5g.112843834C>ACA16039215APCc.8294C>A (p.Pro2765His)
c.*8246C>A (n.*8246C>A)
c.8186C>A (p.Pro2729His)
c.8240C>A (p.Pro2747His)
c.231-12815C>A
c.8270C>A (p.Pro2757His)
c.8165C>A (p.Pro2722His)
c.8156C>A (p.Pro2719His)
c.8117C>A (p.Pro2706His)
c.8063C>A (p.Pro2688His)
c.7967C>A (p.Pro2656His)
c.7937C>A (p.Pro2646His)
c.7862C>A (p.Pro2621His)
c.7760C>A (p.Pro2587His)
c.7391C>A (p.Pro2464His)
 dbSNP
5g.112843834C=CA1573477083APCc.8294C= (p.Pro2765=)
c.*8246C= (n.*8246C=)
c.8186C= (p.Pro2729=)
c.8240C= (p.Pro2747=)
c.231-12815C=
c.8270C= (p.Pro2757=)
c.8165C= (p.Pro2722=)
c.8156C= (p.Pro2719=)
c.8117C= (p.Pro2706=)
c.8063C= (p.Pro2688=)
c.7967C= (p.Pro2656=)
c.7937C= (p.Pro2646=)
c.7862C= (p.Pro2621=)
c.7760C= (p.Pro2587=)
c.7391C= (p.Pro2464=)
5g.112843834C>GCA050303APCc.8294C>G (p.Pro2765Arg)
c.*8246C>G (n.*8246C>G)
c.8186C>G (p.Pro2729Arg)
c.8240C>G (p.Pro2747Arg)
c.231-12815C>G
c.8270C>G (p.Pro2757Arg)
c.8165C>G (p.Pro2722Arg)
c.8156C>G (p.Pro2719Arg)
c.8117C>G (p.Pro2706Arg)
c.8063C>G (p.Pro2688Arg)
c.7967C>G (p.Pro2656Arg)
c.7937C>G (p.Pro2646Arg)
c.7862C>G (p.Pro2621Arg)
c.7760C>G (p.Pro2587Arg)
c.7391C>G (p.Pro2464Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843834C>TCA050311APCc.8294C>T (p.Pro2765Leu)
c.*8246C>T (n.*8246C>T)
c.8186C>T (p.Pro2729Leu)
c.8240C>T (p.Pro2747Leu)
c.231-12815C>T
c.8270C>T (p.Pro2757Leu)
c.8165C>T (p.Pro2722Leu)
c.8156C>T (p.Pro2719Leu)
c.8117C>T (p.Pro2706Leu)
c.8063C>T (p.Pro2688Leu)
c.7967C>T (p.Pro2656Leu)
c.7937C>T (p.Pro2646Leu)
c.7862C>T (p.Pro2621Leu)
c.7760C>T (p.Pro2587Leu)
c.7391C>T (p.Pro2464Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843835T>ACA446211333APCc.8295T>A (p.Pro2765=)
c.*8247T>A (n.*8247T>A)
c.8187T>A (p.Pro2729=)
c.8241T>A (p.Pro2747=)
c.231-12814T>A
c.8271T>A (p.Pro2757=)
c.8166T>A (p.Pro2722=)
c.8157T>A (p.Pro2719=)
c.8118T>A (p.Pro2706=)
c.8064T>A (p.Pro2688=)
c.7968T>A (p.Pro2656=)
c.7938T>A (p.Pro2646=)
c.7863T>A (p.Pro2621=)
c.7761T>A (p.Pro2587=)
c.7392T>A (p.Pro2464=)
 dbSNP
5g.112843835T>CCA446211334APCc.8295T>C (p.Pro2765=)
c.*8247T>C (n.*8247T>C)
c.8187T>C (p.Pro2729=)
c.8241T>C (p.Pro2747=)
c.231-12814T>C
c.8271T>C (p.Pro2757=)
c.8166T>C (p.Pro2722=)
c.8157T>C (p.Pro2719=)
c.8118T>C (p.Pro2706=)
c.8064T>C (p.Pro2688=)
c.7968T>C (p.Pro2656=)
c.7938T>C (p.Pro2646=)
c.7863T>C (p.Pro2621=)
c.7761T>C (p.Pro2587=)
c.7392T>C (p.Pro2464=)
 dbSNP
5g.112843835T>GCA16611679APCc.8295T>G (p.Pro2765=)
c.*8247T>G (n.*8247T>G)
c.8187T>G (p.Pro2729=)
c.8241T>G (p.Pro2747=)
c.231-12814T>G
c.8271T>G (p.Pro2757=)
c.8166T>G (p.Pro2722=)
c.8157T>G (p.Pro2719=)
c.8118T>G (p.Pro2706=)
c.8064T>G (p.Pro2688=)
c.7968T>G (p.Pro2656=)
c.7938T>G (p.Pro2646=)
c.7863T>G (p.Pro2621=)
c.7761T>G (p.Pro2587=)
c.7392T>G (p.Pro2464=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843835T=CA1573477096APCc.8295T= (p.Pro2765=)
c.*8247T= (n.*8247T=)
c.8187T= (p.Pro2729=)
c.8241T= (p.Pro2747=)
c.231-12814T=
c.8271T= (p.Pro2757=)
c.8166T= (p.Pro2722=)
c.8157T= (p.Pro2719=)
c.8118T= (p.Pro2706=)
c.8064T= (p.Pro2688=)
c.7968T= (p.Pro2656=)
c.7938T= (p.Pro2646=)
c.7863T= (p.Pro2621=)
c.7761T= (p.Pro2587=)
c.7392T= (p.Pro2464=)
5g.112843836G>ACA16039216APCc.8296G>A (p.Val2766Ile)
c.*8248G>A (n.*8248G>A)
c.8188G>A (p.Val2730Ile)
c.8242G>A (p.Val2748Ile)
c.231-12813G>A
c.8272G>A (p.Val2758Ile)
c.8167G>A (p.Val2723Ile)
c.8158G>A (p.Val2720Ile)
c.8119G>A (p.Val2707Ile)
c.8065G>A (p.Val2689Ile)
c.7969G>A (p.Val2657Ile)
c.7939G>A (p.Val2647Ile)
c.7864G>A (p.Val2622Ile)
c.7762G>A (p.Val2588Ile)
c.7393G>A (p.Val2465Ile)
 ClinVar dbSNP
5g.112843836G>CCA16039217APCc.8296G>C (p.Val2766Leu)
c.*8248G>C (n.*8248G>C)
c.8188G>C (p.Val2730Leu)
c.8242G>C (p.Val2748Leu)
c.231-12813G>C
c.8272G>C (p.Val2758Leu)
c.8167G>C (p.Val2723Leu)
c.8158G>C (p.Val2720Leu)
c.8119G>C (p.Val2707Leu)
c.8065G>C (p.Val2689Leu)
c.7969G>C (p.Val2657Leu)
c.7939G>C (p.Val2647Leu)
c.7864G>C (p.Val2622Leu)
c.7762G>C (p.Val2588Leu)
c.7393G>C (p.Val2465Leu)
 dbSNP
5g.112843836G>TCA16039218APCc.8296G>T (p.Val2766Leu)
c.*8248G>T (n.*8248G>T)
c.8188G>T (p.Val2730Leu)
c.8242G>T (p.Val2748Leu)
c.231-12813G>T
c.8272G>T (p.Val2758Leu)
c.8167G>T (p.Val2723Leu)
c.8158G>T (p.Val2720Leu)
c.8119G>T (p.Val2707Leu)
c.8065G>T (p.Val2689Leu)
c.7969G>T (p.Val2657Leu)
c.7939G>T (p.Val2647Leu)
c.7864G>T (p.Val2622Leu)
c.7762G>T (p.Val2588Leu)
c.7393G>T (p.Val2465Leu)
 ClinVar gnomAD v4
5g.112843837T>ACA16039219APCc.8297T>A (p.Val2766Glu)
c.*8249T>A (n.*8249T>A)
c.8189T>A (p.Val2730Glu)
c.8243T>A (p.Val2748Glu)
c.231-12812T>A
c.8273T>A (p.Val2758Glu)
c.8168T>A (p.Val2723Glu)
c.8159T>A (p.Val2720Glu)
c.8120T>A (p.Val2707Glu)
c.8066T>A (p.Val2689Glu)
c.7970T>A (p.Val2657Glu)
c.7940T>A (p.Val2647Glu)
c.7865T>A (p.Val2622Glu)
c.7763T>A (p.Val2588Glu)
c.7394T>A (p.Val2465Glu)
 dbSNP
5g.112843837T>CCA16039220APCc.8297T>C (p.Val2766Ala)
c.*8249T>C (n.*8249T>C)
c.8189T>C (p.Val2730Ala)
c.8243T>C (p.Val2748Ala)
c.231-12812T>C
c.8273T>C (p.Val2758Ala)
c.8168T>C (p.Val2723Ala)
c.8159T>C (p.Val2720Ala)
c.8120T>C (p.Val2707Ala)
c.8066T>C (p.Val2689Ala)
c.7970T>C (p.Val2657Ala)
c.7940T>C (p.Val2647Ala)
c.7865T>C (p.Val2622Ala)
c.7763T>C (p.Val2588Ala)
c.7394T>C (p.Val2465Ala)
 dbSNP
5g.112843837T>GCA16039221APCc.8297T>G (p.Val2766Gly)
c.*8249T>G (n.*8249T>G)
c.8189T>G (p.Val2730Gly)
c.8243T>G (p.Val2748Gly)
c.231-12812T>G
c.8273T>G (p.Val2758Gly)
c.8168T>G (p.Val2723Gly)
c.8159T>G (p.Val2720Gly)
c.8120T>G (p.Val2707Gly)
c.8066T>G (p.Val2689Gly)
c.7970T>G (p.Val2657Gly)
c.7940T>G (p.Val2647Gly)
c.7865T>G (p.Val2622Gly)
c.7763T>G (p.Val2588Gly)
c.7394T>G (p.Val2465Gly)
 dbSNP

Number of alleles fetched