Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.23336255A>CCA387518627SACSc.7621T>G (p.Ser2541Ala)
c.2186-6771T>G (p.=)
c.2431+5190T>G (p.=)
c.5371T>G (p.Ser1791Ala)
n.1058-6771T>G (p.=)
n.2129+5190T>G
c.7180T>G (p.Ser2394Ala)
c.7648T>G (p.Ser2550Ala)
c.7672T>G (p.Ser2558Ala)
c.7639T>G (p.Ser2547Ala)
c.7612T>G (p.Ser2538Ala)
13g.23336255A>GCA387518626SACSc.7621T>C (p.Ser2541Pro)
c.2186-6771T>C (p.=)
c.2431+5190T>C (p.=)
c.5371T>C (p.Ser1791Pro)
n.1058-6771T>C (p.=)
n.2129+5190T>C
c.7180T>C (p.Ser2394Pro)
c.7648T>C (p.Ser2550Pro)
c.7672T>C (p.Ser2558Pro)
c.7639T>C (p.Ser2547Pro)
c.7612T>C (p.Ser2538Pro)
13g.23336255A>TCA387518625SACSc.7621T>A (p.Ser2541Thr)
c.2186-6771T>A (p.=)
c.2431+5190T>A (p.=)
c.5371T>A (p.Ser1791Thr)
n.1058-6771T>A (p.=)
n.2129+5190T>A
c.7180T>A (p.Ser2394Thr)
c.7648T>A (p.Ser2550Thr)
c.7672T>A (p.Ser2558Thr)
c.7639T>A (p.Ser2547Thr)
c.7612T>A (p.Ser2538Thr)
13g.23336256A=CA2078625068SACSc.7620T= (p.Pro2540=)
c.2186-6772T= (p.=)
c.2431+5189T= (p.=)
c.5370T= (p.Pro1790=)
n.1058-6772T= (p.=)
n.2129+5189T=
c.7179T= (p.Pro2393=)
c.7647T= (p.Pro2549=)
c.7671T= (p.Pro2557=)
c.7638T= (p.Pro2546=)
c.7611T= (p.Pro2537=)
13g.23336256A>CCA483160911SACSc.7620T>G (p.Pro2540=)
c.2186-6772T>G (p.=)
c.2431+5189T>G (p.=)
c.5370T>G (p.Pro1790=)
n.1058-6772T>G (p.=)
n.2129+5189T>G
c.7179T>G (p.Pro2393=)
c.7647T>G (p.Pro2549=)
c.7671T>G (p.Pro2557=)
c.7638T>G (p.Pro2546=)
c.7611T>G (p.Pro2537=)
13g.23336256A>GCA483160915SACSc.7620T>C (p.Pro2540=)
c.2186-6772T>C (p.=)
c.2431+5189T>C (p.=)
c.5370T>C (p.Pro1790=)
n.1058-6772T>C (p.=)
n.2129+5189T>C
c.7179T>C (p.Pro2393=)
c.7647T>C (p.Pro2549=)
c.7671T>C (p.Pro2557=)
c.7638T>C (p.Pro2546=)
c.7611T>C (p.Pro2537=)
13g.23336256A>TCA483160913SACSc.7620T>A (p.Pro2540=)
c.2186-6772T>A (p.=)
c.2431+5189T>A (p.=)
c.5370T>A (p.Pro1790=)
n.1058-6772T>A (p.=)
n.2129+5189T>A
c.7179T>A (p.Pro2393=)
c.7647T>A (p.Pro2549=)
c.7671T>A (p.Pro2557=)
c.7638T>A (p.Pro2546=)
c.7611T>A (p.Pro2537=)
13g.23336257G>ACA387518628SACSc.7619C>T (p.Pro2540Leu)
c.2186-6773C>T (p.=)
c.2431+5188C>T (p.=)
c.5369C>T (p.Pro1790Leu)
n.1058-6773C>T (p.=)
n.2129+5188C>T
c.7178C>T (p.Pro2393Leu)
c.7646C>T (p.Pro2549Leu)
c.7670C>T (p.Pro2557Leu)
c.7637C>T (p.Pro2546Leu)
c.7610C>T (p.Pro2537Leu)
13g.23336257G>CCA387518629SACSc.7619C>G (p.Pro2540Arg)
c.2186-6773C>G (p.=)
c.2431+5188C>G (p.=)
c.5369C>G (p.Pro1790Arg)
n.1058-6773C>G (p.=)
n.2129+5188C>G
c.7178C>G (p.Pro2393Arg)
c.7646C>G (p.Pro2549Arg)
c.7670C>G (p.Pro2557Arg)
c.7637C>G (p.Pro2546Arg)
c.7610C>G (p.Pro2537Arg)
13g.23336257G=CA2078625072SACSc.7619C= (p.Pro2540=)
c.2186-6773C= (p.=)
c.2431+5188C= (p.=)
c.5369C= (p.Pro1790=)
n.1058-6773C= (p.=)
n.2129+5188C=
c.7178C= (p.Pro2393=)
c.7646C= (p.Pro2549=)
c.7670C= (p.Pro2557=)
c.7637C= (p.Pro2546=)
c.7610C= (p.Pro2537=)
13g.23336257G>TCA387518630SACSc.7619C>A (p.Pro2540His)
c.2186-6773C>A (p.=)
c.2431+5188C>A (p.=)
c.5369C>A (p.Pro1790His)
n.1058-6773C>A (p.=)
n.2129+5188C>A
c.7178C>A (p.Pro2393His)
c.7646C>A (p.Pro2549His)
c.7670C>A (p.Pro2557His)
c.7637C>A (p.Pro2546His)
c.7610C>A (p.Pro2537His)
13g.23336258G>ACA387518631SACSc.7618C>T (p.Pro2540Ser)
c.2186-6774C>T (p.=)
c.2431+5187C>T (p.=)
c.5368C>T (p.Pro1790Ser)
n.1058-6774C>T (p.=)
n.2129+5187C>T
c.7177C>T (p.Pro2393Ser)
c.7645C>T (p.Pro2549Ser)
c.7669C>T (p.Pro2557Ser)
c.7636C>T (p.Pro2546Ser)
c.7609C>T (p.Pro2537Ser)
13g.23336258G>CCA387518632SACSc.7618C>G (p.Pro2540Ala)
c.2186-6774C>G (p.=)
c.2431+5187C>G (p.=)
c.5368C>G (p.Pro1790Ala)
n.1058-6774C>G (p.=)
n.2129+5187C>G
c.7177C>G (p.Pro2393Ala)
c.7645C>G (p.Pro2549Ala)
c.7669C>G (p.Pro2557Ala)
c.7636C>G (p.Pro2546Ala)
c.7609C>G (p.Pro2537Ala)
13g.23336258G=CA2078625075SACSc.7618C= (p.Pro2540=)
c.2186-6774C= (p.=)
c.2431+5187C= (p.=)
c.5368C= (p.Pro1790=)
n.1058-6774C= (p.=)
n.2129+5187C=
c.7177C= (p.Pro2393=)
c.7645C= (p.Pro2549=)
c.7669C= (p.Pro2557=)
c.7636C= (p.Pro2546=)
c.7609C= (p.Pro2537=)
13g.23336258G>TCA387518633SACSc.7618C>A (p.Pro2540Thr)
c.2186-6774C>A (p.=)
c.2431+5187C>A (p.=)
c.5368C>A (p.Pro1790Thr)
n.1058-6774C>A (p.=)
n.2129+5187C>A
c.7177C>A (p.Pro2393Thr)
c.7645C>A (p.Pro2549Thr)
c.7669C>A (p.Pro2557Thr)
c.7636C>A (p.Pro2546Thr)
c.7609C>A (p.Pro2537Thr)
13g.23336259A>CCA387518634SACSc.7617T>G (p.Tyr2539Ter)
c.2186-6775T>G (p.=)
c.2431+5186T>G (p.=)
c.5367T>G (p.Tyr1789Ter)
n.1058-6775T>G (p.=)
n.2129+5186T>G
c.7176T>G (p.Tyr2392Ter)
c.7644T>G (p.Tyr2548Ter)
c.7668T>G (p.Tyr2556Ter)
c.7635T>G (p.Tyr2545Ter)
c.7608T>G (p.Tyr2536Ter)
13g.23336259A>GCA483160606SACSc.7617T>C (p.Tyr2539=)
c.2186-6775T>C (p.=)
c.2431+5186T>C (p.=)
c.5367T>C (p.Tyr1789=)
n.1058-6775T>C (p.=)
n.2129+5186T>C
c.7176T>C (p.Tyr2392=)
c.7644T>C (p.Tyr2548=)
c.7668T>C (p.Tyr2556=)
c.7635T>C (p.Tyr2545=)
c.7608T>C (p.Tyr2536=)
13g.23336259A>TCA387518635SACSc.7617T>A (p.Tyr2539Ter)
c.2186-6775T>A (p.=)
c.2431+5186T>A (p.=)
c.5367T>A (p.Tyr1789Ter)
n.1058-6775T>A (p.=)
n.2129+5186T>A
c.7176T>A (p.Tyr2392Ter)
c.7644T>A (p.Tyr2548Ter)
c.7668T>A (p.Tyr2556Ter)
c.7635T>A (p.Tyr2545Ter)
c.7608T>A (p.Tyr2536Ter)
13g.23336260T>ACA387518636SACSc.7616A>T (p.Tyr2539Phe)
c.2186-6776A>T (p.=)
c.2431+5185A>T (p.=)
c.5366A>T (p.Tyr1789Phe)
n.1058-6776A>T (p.=)
n.2129+5185A>T
c.7175A>T (p.Tyr2392Phe)
c.7643A>T (p.Tyr2548Phe)
c.7667A>T (p.Tyr2556Phe)
c.7634A>T (p.Tyr2545Phe)
c.7607A>T (p.Tyr2536Phe)
13g.23336260T>CCA387518637SACSc.7616A>G (p.Tyr2539Cys)
c.2186-6776A>G (p.=)
c.2431+5185A>G (p.=)
c.5366A>G (p.Tyr1789Cys)
n.1058-6776A>G (p.=)
n.2129+5185A>G
c.7175A>G (p.Tyr2392Cys)
c.7643A>G (p.Tyr2548Cys)
c.7667A>G (p.Tyr2556Cys)
c.7634A>G (p.Tyr2545Cys)
c.7607A>G (p.Tyr2536Cys)
13g.23336260T>GCA387518638SACSc.7616A>C (p.Tyr2539Ser)
c.2186-6776A>C (p.=)
c.2431+5185A>C (p.=)
c.5366A>C (p.Tyr1789Ser)
n.1058-6776A>C (p.=)
n.2129+5185A>C
c.7175A>C (p.Tyr2392Ser)
c.7643A>C (p.Tyr2548Ser)
c.7667A>C (p.Tyr2556Ser)
c.7634A>C (p.Tyr2545Ser)
c.7607A>C (p.Tyr2536Ser)
13g.23336261A>CCA387518641SACSc.7615T>G (p.Tyr2539Asp)
c.2186-6777T>G (p.=)
c.2431+5184T>G (p.=)
c.5365T>G (p.Tyr1789Asp)
n.1058-6777T>G (p.=)
n.2129+5184T>G
c.7174T>G (p.Tyr2392Asp)
c.7642T>G (p.Tyr2548Asp)
c.7666T>G (p.Tyr2556Asp)
c.7633T>G (p.Tyr2545Asp)
c.7606T>G (p.Tyr2536Asp)
13g.23336261A>GCA387518640SACSc.7615T>C (p.Tyr2539His)
c.2186-6777T>C (p.=)
c.2431+5184T>C (p.=)
c.5365T>C (p.Tyr1789His)
n.1058-6777T>C (p.=)
n.2129+5184T>C
c.7174T>C (p.Tyr2392His)
c.7642T>C (p.Tyr2548His)
c.7666T>C (p.Tyr2556His)
c.7633T>C (p.Tyr2545His)
c.7606T>C (p.Tyr2536His)
13g.23336261A>TCA387518639SACSc.7615T>A (p.Tyr2539Asn)
c.2186-6777T>A (p.=)
c.2431+5184T>A (p.=)
c.5365T>A (p.Tyr1789Asn)
n.1058-6777T>A (p.=)
n.2129+5184T>A
c.7174T>A (p.Tyr2392Asn)
c.7642T>A (p.Tyr2548Asn)
c.7666T>A (p.Tyr2556Asn)
c.7633T>A (p.Tyr2545Asn)
c.7606T>A (p.Tyr2536Asn)
13g.23336262T>ACA483160608SACSc.7614A>T (p.Ala2538=)
c.2186-6778A>T (p.=)
c.2431+5183A>T (p.=)
c.5364A>T (p.Ala1788=)
n.1058-6778A>T (p.=)
n.2129+5183A>T
c.7173A>T (p.Ala2391=)
c.7641A>T (p.Ala2547=)
c.7665A>T (p.Ala2555=)
c.7632A>T (p.Ala2544=)
c.7605A>T (p.Ala2535=)
13g.23336262T>CCA246656681SACSc.7614A>G (p.Ala2538=)
c.2186-6778A>G (p.=)
c.2431+5183A>G (p.=)
c.5364A>G (p.Ala1788=)
n.1058-6778A>G (p.=)
n.2129+5183A>G
c.7173A>G (p.Ala2391=)
c.7641A>G (p.Ala2547=)
c.7665A>G (p.Ala2555=)
c.7632A>G (p.Ala2544=)
c.7605A>G (p.Ala2535=)
dbSNP gnomAD
13g.23336262T>GCA6910883SACSc.7614A>C (p.Ala2538=)
c.2186-6778A>C (p.=)
c.2431+5183A>C (p.=)
c.5364A>C (p.Ala1788=)
n.1058-6778A>C (p.=)
n.2129+5183A>C
c.7173A>C (p.Ala2391=)
c.7641A>C (p.Ala2547=)
c.7665A>C (p.Ala2555=)
c.7632A>C (p.Ala2544=)
c.7605A>C (p.Ala2535=)
ClinVar dbSNP ExAC gnomAD
13g.23336262T=CA2078625079SACSc.7614A= (p.Ala2538=)
c.2186-6778A= (p.=)
c.2431+5183A= (p.=)
c.5364A= (p.Ala1788=)
n.1058-6778A= (p.=)
n.2129+5183A=
c.7173A= (p.Ala2391=)
c.7641A= (p.Ala2547=)
c.7665A= (p.Ala2555=)
c.7632A= (p.Ala2544=)
c.7605A= (p.Ala2535=)
13g.23336263G>ACA387518642SACSc.7613C>T (p.Ala2538Val)
c.2186-6779C>T (p.=)
c.2431+5182C>T (p.=)
c.5363C>T (p.Ala1788Val)
n.1058-6779C>T (p.=)
n.2129+5182C>T
c.7172C>T (p.Ala2391Val)
c.7640C>T (p.Ala2547Val)
c.7664C>T (p.Ala2555Val)
c.7631C>T (p.Ala2544Val)
c.7604C>T (p.Ala2535Val)
ClinVar gnomAD
13g.23336263G>CCA387518643SACSc.7613C>G (p.Ala2538Gly)
c.2186-6779C>G (p.=)
c.2431+5182C>G (p.=)
c.5363C>G (p.Ala1788Gly)
n.1058-6779C>G (p.=)
n.2129+5182C>G
c.7172C>G (p.Ala2391Gly)
c.7640C>G (p.Ala2547Gly)
c.7664C>G (p.Ala2555Gly)
c.7631C>G (p.Ala2544Gly)
c.7604C>G (p.Ala2535Gly)
13g.23336263G=CA2078625088SACSc.7613C= (p.Ala2538=)
c.2186-6779C= (p.=)
c.2431+5182C= (p.=)
c.5363C= (p.Ala1788=)
n.1058-6779C= (p.=)
n.2129+5182C=
c.7172C= (p.Ala2391=)
c.7640C= (p.Ala2547=)
c.7664C= (p.Ala2555=)
c.7631C= (p.Ala2544=)
c.7604C= (p.Ala2535=)
13g.23336263G>TCA387518644SACSc.7613C>A (p.Ala2538Glu)
c.2186-6779C>A (p.=)
c.2431+5182C>A (p.=)
c.5363C>A (p.Ala1788Glu)
n.1058-6779C>A (p.=)
n.2129+5182C>A
c.7172C>A (p.Ala2391Glu)
c.7640C>A (p.Ala2547Glu)
c.7664C>A (p.Ala2555Glu)
c.7631C>A (p.Ala2544Glu)
c.7604C>A (p.Ala2535Glu)
13g.23336264C>ACA387518645SACSc.7612G>T (p.Ala2538Ser)
c.2186-6780G>T (p.=)
c.2431+5181G>T (p.=)
c.5362G>T (p.Ala1788Ser)
n.1058-6780G>T (p.=)
n.2129+5181G>T
c.7171G>T (p.Ala2391Ser)
c.7639G>T (p.Ala2547Ser)
c.7663G>T (p.Ala2555Ser)
c.7630G>T (p.Ala2544Ser)
c.7603G>T (p.Ala2535Ser)
13g.23336264C>GCA387518646SACSc.7612G>C (p.Ala2538Pro)
c.2186-6780G>C (p.=)
c.2431+5181G>C (p.=)
c.5362G>C (p.Ala1788Pro)
n.1058-6780G>C (p.=)
n.2129+5181G>C
c.7171G>C (p.Ala2391Pro)
c.7639G>C (p.Ala2547Pro)
c.7663G>C (p.Ala2555Pro)
c.7630G>C (p.Ala2544Pro)
c.7603G>C (p.Ala2535Pro)
13g.23336264C>TCA387518647SACSc.7612G>A (p.Ala2538Thr)
c.2186-6780G>A (p.=)
c.2431+5181G>A (p.=)
c.5362G>A (p.Ala1788Thr)
n.1058-6780G>A (p.=)
n.2129+5181G>A
c.7171G>A (p.Ala2391Thr)
c.7639G>A (p.Ala2547Thr)
c.7663G>A (p.Ala2555Thr)
c.7630G>A (p.Ala2544Thr)
c.7603G>A (p.Ala2535Thr)
13g.23336265A>CCA387518648SACSc.7611T>G (p.Asn2537Lys)
c.2186-6781T>G (p.=)
c.2431+5180T>G (p.=)
c.5361T>G (p.Asn1787Lys)
n.1058-6781T>G (p.=)
n.2129+5180T>G
c.7170T>G (p.Asn2390Lys)
c.7638T>G (p.Asn2546Lys)
c.7662T>G (p.Asn2554Lys)
c.7629T>G (p.Asn2543Lys)
c.7602T>G (p.Asn2534Lys)
13g.23336265A>GCA483160612SACSc.7611T>C (p.Asn2537=)
c.2186-6781T>C (p.=)
c.2431+5180T>C (p.=)
c.5361T>C (p.Asn1787=)
n.1058-6781T>C (p.=)
n.2129+5180T>C
c.7170T>C (p.Asn2390=)
c.7638T>C (p.Asn2546=)
c.7662T>C (p.Asn2554=)
c.7629T>C (p.Asn2543=)
c.7602T>C (p.Asn2534=)
13g.23336265A>TCA387518649SACSc.7611T>A (p.Asn2537Lys)
c.2186-6781T>A (p.=)
c.2431+5180T>A (p.=)
c.5361T>A (p.Asn1787Lys)
n.1058-6781T>A (p.=)
n.2129+5180T>A
c.7170T>A (p.Asn2390Lys)
c.7638T>A (p.Asn2546Lys)
c.7662T>A (p.Asn2554Lys)
c.7629T>A (p.Asn2543Lys)
c.7602T>A (p.Asn2534Lys)
13g.23336266T>ACA387518650SACSc.7610A>T (p.Asn2537Ile)
c.2186-6782A>T (p.=)
c.2431+5179A>T (p.=)
c.5360A>T (p.Asn1787Ile)
n.1058-6782A>T (p.=)
n.2129+5179A>T
c.7169A>T (p.Asn2390Ile)
c.7637A>T (p.Asn2546Ile)
c.7661A>T (p.Asn2554Ile)
c.7628A>T (p.Asn2543Ile)
c.7601A>T (p.Asn2534Ile)
13g.23336266T>CCA387518651SACSc.7610A>G (p.Asn2537Ser)
c.2186-6782A>G (p.=)
c.2431+5179A>G (p.=)
c.5360A>G (p.Asn1787Ser)
n.1058-6782A>G (p.=)
n.2129+5179A>G
c.7169A>G (p.Asn2390Ser)
c.7637A>G (p.Asn2546Ser)
c.7661A>G (p.Asn2554Ser)
c.7628A>G (p.Asn2543Ser)
c.7601A>G (p.Asn2534Ser)
gnomAD
13g.23336266T>GCA387518652SACSc.7610A>C (p.Asn2537Thr)
c.2186-6782A>C (p.=)
c.2431+5179A>C (p.=)
c.5360A>C (p.Asn1787Thr)
n.1058-6782A>C (p.=)
n.2129+5179A>C
c.7169A>C (p.Asn2390Thr)
c.7637A>C (p.Asn2546Thr)
c.7661A>C (p.Asn2554Thr)
c.7628A>C (p.Asn2543Thr)
c.7601A>C (p.Asn2534Thr)
13g.23336266T=CA2078625093SACSc.7610A= (p.Asn2537=)
c.2186-6782A= (p.=)
c.2431+5179A= (p.=)
c.5360A= (p.Asn1787=)
n.1058-6782A= (p.=)
n.2129+5179A=
c.7169A= (p.Asn2390=)
c.7637A= (p.Asn2546=)
c.7661A= (p.Asn2554=)
c.7628A= (p.Asn2543=)
c.7601A= (p.Asn2534=)
13g.23336266_23336267insCCAACA2078625094SACSc.7609_7610insTTGG (p.Asn2537IlefsTer7)
c.2186-6783_2186-6782insTTGG (p.=)
c.2431+5178_2431+5179insTTGG (p.=)
c.5359_5360insTTGG (p.Asn1787IlefsTer7)
n.1058-6783_1058-6782insTTGG (p.=)
n.2129+5178_2129+5179insTTGG
c.7168_7169insTTGG (p.Asn2390IlefsTer7)
c.7636_7637insTTGG (p.Asn2546IlefsTer7)
c.7660_7661insTTGG (p.Asn2554IlefsTer7)
c.7627_7628insTTGG (p.Asn2543IlefsTer7)
c.7600_7601insTTGG (p.Asn2534IlefsTer7)
dbSNP
13g.23336267T>ACA387518655SACSc.7609A>T (p.Asn2537Tyr)
c.2186-6783A>T (p.=)
c.2431+5178A>T (p.=)
c.5359A>T (p.Asn1787Tyr)
n.1058-6783A>T (p.=)
n.2129+5178A>T
c.7168A>T (p.Asn2390Tyr)
c.7636A>T (p.Asn2546Tyr)
c.7660A>T (p.Asn2554Tyr)
c.7627A>T (p.Asn2543Tyr)
c.7600A>T (p.Asn2534Tyr)
13g.23336267T>CCA387518654SACSc.7609A>G (p.Asn2537Asp)
c.2186-6783A>G (p.=)
c.2431+5178A>G (p.=)
c.5359A>G (p.Asn1787Asp)
n.1058-6783A>G (p.=)
n.2129+5178A>G
c.7168A>G (p.Asn2390Asp)
c.7636A>G (p.Asn2546Asp)
c.7660A>G (p.Asn2554Asp)
c.7627A>G (p.Asn2543Asp)
c.7600A>G (p.Asn2534Asp)
13g.23336267T>GCA387518653SACSc.7609A>C (p.Asn2537His)
c.2186-6783A>C (p.=)
c.2431+5178A>C (p.=)
c.5359A>C (p.Asn1787His)
n.1058-6783A>C (p.=)
n.2129+5178A>C
c.7168A>C (p.Asn2390His)
c.7636A>C (p.Asn2546His)
c.7660A>C (p.Asn2554His)
c.7627A>C (p.Asn2543His)
c.7600A>C (p.Asn2534His)
13g.23336267T=CA2078625095SACSc.7609A= (p.Asn2537=)
c.2186-6783A= (p.=)
c.2431+5178A= (p.=)
c.5359A= (p.Asn1787=)
n.1058-6783A= (p.=)
n.2129+5178A=
c.7168A= (p.Asn2390=)
c.7636A= (p.Asn2546=)
c.7660A= (p.Asn2554=)
c.7627A= (p.Asn2543=)
c.7600A= (p.Asn2534=)
13g.23336268A>CCA483160613SACSc.7608T>G (p.Leu2536=)
c.2186-6784T>G (p.=)
c.2431+5177T>G (p.=)
c.5358T>G (p.Leu1786=)
n.1058-6784T>G (p.=)
n.2129+5177T>G
c.7167T>G (p.Leu2389=)
c.7635T>G (p.Leu2545=)
c.7659T>G (p.Leu2553=)
c.7626T>G (p.Leu2542=)
c.7599T>G (p.Leu2533=)
13g.23336268A>GCA483160614SACSc.7608T>C (p.Leu2536=)
c.2186-6784T>C (p.=)
c.2431+5177T>C (p.=)
c.5358T>C (p.Leu1786=)
n.1058-6784T>C (p.=)
n.2129+5177T>C
c.7167T>C (p.Leu2389=)
c.7635T>C (p.Leu2545=)
c.7659T>C (p.Leu2553=)
c.7626T>C (p.Leu2542=)
c.7599T>C (p.Leu2533=)
13g.23336268A>TCA483160615SACSc.7608T>A (p.Leu2536=)
c.2186-6784T>A (p.=)
c.2431+5177T>A (p.=)
c.5358T>A (p.Leu1786=)
n.1058-6784T>A (p.=)
n.2129+5177T>A
c.7167T>A (p.Leu2389=)
c.7635T>A (p.Leu2545=)
c.7659T>A (p.Leu2553=)
c.7626T>A (p.Leu2542=)
c.7599T>A (p.Leu2533=)

Number of alleles fetched