Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.23336351_23336355delinsATCTTCA2078625259SACSc.7521_7525delinsAAGAT (p.Glu2507=)
c.2186-6871_2186-6867delinsAAGAT (p.=)
c.2431+5090_2431+5094delinsAAGAT (p.=)
c.5271_5275delinsAAGAT (p.Glu1757=)
n.1058-6871_1058-6867delinsAAGAT (p.=)
n.2129+5090_2129+5094delinsAAGAT
c.7080_7084delinsAAGAT (p.Glu2360=)
c.7548_7552delinsAAGAT (p.Glu2516=)
c.7572_7576delinsAAGAT (p.Glu2524=)
c.7539_7543delinsAAGAT (p.Glu2513=)
c.7512_7516delinsAAGAT (p.Glu2504=)
13g.23336355_23336358delCA16041619SACSc.7521_7524del (p.Glu2507AspfsTer21)
c.2186-6871_2186-6868del (p.=)
c.2431+5090_2431+5093del (p.=)
c.5271_5274del (p.Glu1757AspfsTer21)
n.1058-6871_1058-6868del (p.=)
n.2129+5090_2129+5093del
c.7080_7083del (p.Glu2360AspfsTer21)
c.7548_7551del (p.Glu2516AspfsTer21)
c.7572_7575del (p.Glu2524AspfsTer21)
c.7539_7542del (p.Glu2513AspfsTer21)
c.7512_7515del (p.Glu2504AspfsTer21)
ClinVar dbSNP
13g.23336355T>ACA387518855SACSc.7521A>T (p.Glu2507Asp)
c.2186-6871A>T (p.=)
c.2431+5090A>T (p.=)
c.5271A>T (p.Glu1757Asp)
n.1058-6871A>T (p.=)
n.2129+5090A>T
c.7080A>T (p.Glu2360Asp)
c.7548A>T (p.Glu2516Asp)
c.7572A>T (p.Glu2524Asp)
c.7539A>T (p.Glu2513Asp)
c.7512A>T (p.Glu2504Asp)
13g.23336355T>CCA483160829SACSc.7521A>G (p.Glu2507=)
c.2186-6871A>G (p.=)
c.2431+5090A>G (p.=)
c.5271A>G (p.Glu1757=)
n.1058-6871A>G (p.=)
n.2129+5090A>G
c.7080A>G (p.Glu2360=)
c.7548A>G (p.Glu2516=)
c.7572A>G (p.Glu2524=)
c.7539A>G (p.Glu2513=)
c.7512A>G (p.Glu2504=)
13g.23336355T>GCA387518854SACSc.7521A>C (p.Glu2507Asp)
c.2186-6871A>C (p.=)
c.2431+5090A>C (p.=)
c.5271A>C (p.Glu1757Asp)
n.1058-6871A>C (p.=)
n.2129+5090A>C
c.7080A>C (p.Glu2360Asp)
c.7548A>C (p.Glu2516Asp)
c.7572A>C (p.Glu2524Asp)
c.7539A>C (p.Glu2513Asp)
c.7512A>C (p.Glu2504Asp)
13g.23336356T>ACA387518856SACSc.7520A>T (p.Glu2507Val)
c.2186-6872A>T (p.=)
c.2431+5089A>T (p.=)
c.5270A>T (p.Glu1757Val)
n.1058-6872A>T (p.=)
n.2129+5089A>T
c.7079A>T (p.Glu2360Val)
c.7547A>T (p.Glu2516Val)
c.7571A>T (p.Glu2524Val)
c.7538A>T (p.Glu2513Val)
c.7511A>T (p.Glu2504Val)
13g.23336356T>CCA387518857SACSc.7520A>G (p.Glu2507Gly)
c.2186-6872A>G (p.=)
c.2431+5089A>G (p.=)
c.5270A>G (p.Glu1757Gly)
n.1058-6872A>G (p.=)
n.2129+5089A>G
c.7079A>G (p.Glu2360Gly)
c.7547A>G (p.Glu2516Gly)
c.7571A>G (p.Glu2524Gly)
c.7538A>G (p.Glu2513Gly)
c.7511A>G (p.Glu2504Gly)
13g.23336356T>GCA387518858SACSc.7520A>C (p.Glu2507Ala)
c.2186-6872A>C (p.=)
c.2431+5089A>C (p.=)
c.5270A>C (p.Glu1757Ala)
n.1058-6872A>C (p.=)
n.2129+5089A>C
c.7079A>C (p.Glu2360Ala)
c.7547A>C (p.Glu2516Ala)
c.7571A>C (p.Glu2524Ala)
c.7538A>C (p.Glu2513Ala)
c.7511A>C (p.Glu2504Ala)
13g.23336357C>ACA387518859SACSc.7519G>T (p.Glu2507Ter)
c.2186-6873G>T (p.=)
c.2431+5088G>T (p.=)
c.5269G>T (p.Glu1757Ter)
n.1058-6873G>T (p.=)
n.2129+5088G>T
c.7078G>T (p.Glu2360Ter)
c.7546G>T (p.Glu2516Ter)
c.7570G>T (p.Glu2524Ter)
c.7537G>T (p.Glu2513Ter)
c.7510G>T (p.Glu2504Ter)
13g.23336357C>GCA387518860SACSc.7519G>C (p.Glu2507Gln)
c.2186-6873G>C (p.=)
c.2431+5088G>C (p.=)
c.5269G>C (p.Glu1757Gln)
n.1058-6873G>C (p.=)
n.2129+5088G>C
c.7078G>C (p.Glu2360Gln)
c.7546G>C (p.Glu2516Gln)
c.7570G>C (p.Glu2524Gln)
c.7537G>C (p.Glu2513Gln)
c.7510G>C (p.Glu2504Gln)
13g.23336357C>TCA387518861SACSc.7519G>A (p.Glu2507Lys)
c.2186-6873G>A (p.=)
c.2431+5088G>A (p.=)
c.5269G>A (p.Glu1757Lys)
n.1058-6873G>A (p.=)
n.2129+5088G>A
c.7078G>A (p.Glu2360Lys)
c.7546G>A (p.Glu2516Lys)
c.7570G>A (p.Glu2524Lys)
c.7537G>A (p.Glu2513Lys)
c.7510G>A (p.Glu2504Lys)
13g.23336358T>ACA387518862SACSc.7518A>T (p.Leu2506Phe)
c.2186-6874A>T (p.=)
c.2431+5087A>T (p.=)
c.5268A>T (p.Leu1756Phe)
n.1058-6874A>T (p.=)
n.2129+5087A>T
c.7077A>T (p.Leu2359Phe)
c.7545A>T (p.Leu2515Phe)
c.7569A>T (p.Leu2523Phe)
c.7536A>T (p.Leu2512Phe)
c.7509A>T (p.Leu2503Phe)
13g.23336358T>CCA483160834SACSc.7518A>G (p.Leu2506=)
c.2186-6874A>G (p.=)
c.2431+5087A>G (p.=)
c.5268A>G (p.Leu1756=)
n.1058-6874A>G (p.=)
n.2129+5087A>G
c.7077A>G (p.Leu2359=)
c.7545A>G (p.Leu2515=)
c.7569A>G (p.Leu2523=)
c.7536A>G (p.Leu2512=)
c.7509A>G (p.Leu2503=)
13g.23336358T>GCA387518863SACSc.7518A>C (p.Leu2506Phe)
c.2186-6874A>C (p.=)
c.2431+5087A>C (p.=)
c.5268A>C (p.Leu1756Phe)
n.1058-6874A>C (p.=)
n.2129+5087A>C
c.7077A>C (p.Leu2359Phe)
c.7545A>C (p.Leu2515Phe)
c.7569A>C (p.Leu2523Phe)
c.7536A>C (p.Leu2512Phe)
c.7509A>C (p.Leu2503Phe)
13g.23336358T=CA2078625281SACSc.7518A= (p.Leu2506=)
c.2186-6874A= (p.=)
c.2431+5087A= (p.=)
c.5268A= (p.Leu1756=)
n.1058-6874A= (p.=)
n.2129+5087A=
c.7077A= (p.Leu2359=)
c.7545A= (p.Leu2515=)
c.7569A= (p.Leu2523=)
c.7536A= (p.Leu2512=)
c.7509A= (p.Leu2503=)
13g.23336359A>CCA387518864SACSc.7517T>G (p.Leu2506Ter)
c.2186-6875T>G (p.=)
c.2431+5086T>G (p.=)
c.5267T>G (p.Leu1756Ter)
n.1058-6875T>G (p.=)
n.2129+5086T>G
c.7076T>G (p.Leu2359Ter)
c.7544T>G (p.Leu2515Ter)
c.7568T>G (p.Leu2523Ter)
c.7535T>G (p.Leu2512Ter)
c.7508T>G (p.Leu2503Ter)
13g.23336359A>GCA387518865SACSc.7517T>C (p.Leu2506Ser)
c.2186-6875T>C (p.=)
c.2431+5086T>C (p.=)
c.5267T>C (p.Leu1756Ser)
n.1058-6875T>C (p.=)
n.2129+5086T>C
c.7076T>C (p.Leu2359Ser)
c.7544T>C (p.Leu2515Ser)
c.7568T>C (p.Leu2523Ser)
c.7535T>C (p.Leu2512Ser)
c.7508T>C (p.Leu2503Ser)
13g.23336359A>TCA387518866SACSc.7517T>A (p.Leu2506Ter)
c.2186-6875T>A (p.=)
c.2431+5086T>A (p.=)
c.5267T>A (p.Leu1756Ter)
n.1058-6875T>A (p.=)
n.2129+5086T>A
c.7076T>A (p.Leu2359Ter)
c.7544T>A (p.Leu2515Ter)
c.7568T>A (p.Leu2523Ter)
c.7535T>A (p.Leu2512Ter)
c.7508T>A (p.Leu2503Ter)
13g.23336360A>CCA387518867SACSc.7516T>G (p.Leu2506Val)
c.2186-6876T>G (p.=)
c.2431+5085T>G (p.=)
c.5266T>G (p.Leu1756Val)
n.1058-6876T>G (p.=)
n.2129+5085T>G
c.7075T>G (p.Leu2359Val)
c.7543T>G (p.Leu2515Val)
c.7567T>G (p.Leu2523Val)
c.7534T>G (p.Leu2512Val)
c.7507T>G (p.Leu2503Val)
13g.23336360A>GCA483160843SACSc.7516T>C (p.Leu2506=)
c.2186-6876T>C (p.=)
c.2431+5085T>C (p.=)
c.5266T>C (p.Leu1756=)
n.1058-6876T>C (p.=)
n.2129+5085T>C
c.7075T>C (p.Leu2359=)
c.7543T>C (p.Leu2515=)
c.7567T>C (p.Leu2523=)
c.7534T>C (p.Leu2512=)
c.7507T>C (p.Leu2503=)
13g.23336360A>TCA387518868SACSc.7516T>A (p.Leu2506Ile)
c.2186-6876T>A (p.=)
c.2431+5085T>A (p.=)
c.5266T>A (p.Leu1756Ile)
n.1058-6876T>A (p.=)
n.2129+5085T>A
c.7075T>A (p.Leu2359Ile)
c.7543T>A (p.Leu2515Ile)
c.7567T>A (p.Leu2523Ile)
c.7534T>A (p.Leu2512Ile)
c.7507T>A (p.Leu2503Ile)
13g.23336361G>ACA483160845SACSc.7515C>T (p.Ala2505=)
c.2186-6877C>T (p.=)
c.2431+5084C>T (p.=)
c.5265C>T (p.Ala1755=)
n.1058-6877C>T (p.=)
n.2129+5084C>T
c.7074C>T (p.Ala2358=)
c.7542C>T (p.Ala2514=)
c.7566C>T (p.Ala2522=)
c.7533C>T (p.Ala2511=)
c.7506C>T (p.Ala2502=)
gnomAD COSMIC COSMIC
13g.23336361G>CCA483160853SACSc.7515C>G (p.Ala2505=)
c.2186-6877C>G (p.=)
c.2431+5084C>G (p.=)
c.5265C>G (p.Ala1755=)
n.1058-6877C>G (p.=)
n.2129+5084C>G
c.7074C>G (p.Ala2358=)
c.7542C>G (p.Ala2514=)
c.7566C>G (p.Ala2522=)
c.7533C>G (p.Ala2511=)
c.7506C>G (p.Ala2502=)
13g.23336361G=CA2078625287SACSc.7515C= (p.Ala2505=)
c.2186-6877C= (p.=)
c.2431+5084C= (p.=)
c.5265C= (p.Ala1755=)
n.1058-6877C= (p.=)
n.2129+5084C=
c.7074C= (p.Ala2358=)
c.7542C= (p.Ala2514=)
c.7566C= (p.Ala2522=)
c.7533C= (p.Ala2511=)
c.7506C= (p.Ala2502=)
13g.23336361G>TCA483160847SACSc.7515C>A (p.Ala2505=)
c.2186-6877C>A (p.=)
c.2431+5084C>A (p.=)
c.5265C>A (p.Ala1755=)
n.1058-6877C>A (p.=)
n.2129+5084C>A
c.7074C>A (p.Ala2358=)
c.7542C>A (p.Ala2514=)
c.7566C>A (p.Ala2522=)
c.7533C>A (p.Ala2511=)
c.7506C>A (p.Ala2502=)
13g.23336362G>ACA387518869SACSc.7514C>T (p.Ala2505Val)
c.2186-6878C>T (p.=)
c.2431+5083C>T (p.=)
c.5264C>T (p.Ala1755Val)
n.1058-6878C>T (p.=)
n.2129+5083C>T
c.7073C>T (p.Ala2358Val)
c.7541C>T (p.Ala2514Val)
c.7565C>T (p.Ala2522Val)
c.7532C>T (p.Ala2511Val)
c.7505C>T (p.Ala2502Val)
COSMIC COSMIC
13g.23336362G>CCA387518871SACSc.7514C>G (p.Ala2505Gly)
c.2186-6878C>G (p.=)
c.2431+5083C>G (p.=)
c.5264C>G (p.Ala1755Gly)
n.1058-6878C>G (p.=)
n.2129+5083C>G
c.7073C>G (p.Ala2358Gly)
c.7541C>G (p.Ala2514Gly)
c.7565C>G (p.Ala2522Gly)
c.7532C>G (p.Ala2511Gly)
c.7505C>G (p.Ala2502Gly)
13g.23336362G=CA2078625292SACSc.7514C= (p.Ala2505=)
c.2186-6878C= (p.=)
c.2431+5083C= (p.=)
c.5264C= (p.Ala1755=)
n.1058-6878C= (p.=)
n.2129+5083C=
c.7073C= (p.Ala2358=)
c.7541C= (p.Ala2514=)
c.7565C= (p.Ala2522=)
c.7532C= (p.Ala2511=)
c.7505C= (p.Ala2502=)
13g.23336362G>TCA387518870SACSc.7514C>A (p.Ala2505Asp)
c.2186-6878C>A (p.=)
c.2431+5083C>A (p.=)
c.5264C>A (p.Ala1755Asp)
n.1058-6878C>A (p.=)
n.2129+5083C>A
c.7073C>A (p.Ala2358Asp)
c.7541C>A (p.Ala2514Asp)
c.7565C>A (p.Ala2522Asp)
c.7532C>A (p.Ala2511Asp)
c.7505C>A (p.Ala2502Asp)
gnomAD
13g.23336363C>ACA387518872SACSc.7513G>T (p.Ala2505Ser)
c.2186-6879G>T (p.=)
c.2431+5082G>T (p.=)
c.5263G>T (p.Ala1755Ser)
n.1058-6879G>T (p.=)
n.2129+5082G>T
c.7072G>T (p.Ala2358Ser)
c.7540G>T (p.Ala2514Ser)
c.7564G>T (p.Ala2522Ser)
c.7531G>T (p.Ala2511Ser)
c.7504G>T (p.Ala2502Ser)
13g.23336363C>GCA387518873SACSc.7513G>C (p.Ala2505Pro)
c.2186-6879G>C (p.=)
c.2431+5082G>C (p.=)
c.5263G>C (p.Ala1755Pro)
n.1058-6879G>C (p.=)
n.2129+5082G>C
c.7072G>C (p.Ala2358Pro)
c.7540G>C (p.Ala2514Pro)
c.7564G>C (p.Ala2522Pro)
c.7531G>C (p.Ala2511Pro)
c.7504G>C (p.Ala2502Pro)
13g.23336363C>TCA387518874SACSc.7513G>A (p.Ala2505Thr)
c.2186-6879G>A (p.=)
c.2431+5082G>A (p.=)
c.5263G>A (p.Ala1755Thr)
n.1058-6879G>A (p.=)
n.2129+5082G>A
c.7072G>A (p.Ala2358Thr)
c.7540G>A (p.Ala2514Thr)
c.7564G>A (p.Ala2522Thr)
c.7531G>A (p.Ala2511Thr)
c.7504G>A (p.Ala2502Thr)
13g.23336364T>ACA387518875SACSc.7512A>T (p.Lys2504Asn)
c.2186-6880A>T (p.=)
c.2431+5081A>T (p.=)
c.5262A>T (p.Lys1754Asn)
n.1058-6880A>T (p.=)
n.2129+5081A>T
c.7071A>T (p.Lys2357Asn)
c.7539A>T (p.Lys2513Asn)
c.7563A>T (p.Lys2521Asn)
c.7530A>T (p.Lys2510Asn)
c.7503A>T (p.Lys2501Asn)
13g.23336364T>CCA483160858SACSc.7512A>G (p.Lys2504=)
c.2186-6880A>G (p.=)
c.2431+5081A>G (p.=)
c.5262A>G (p.Lys1754=)
n.1058-6880A>G (p.=)
n.2129+5081A>G
c.7071A>G (p.Lys2357=)
c.7539A>G (p.Lys2513=)
c.7563A>G (p.Lys2521=)
c.7530A>G (p.Lys2510=)
c.7503A>G (p.Lys2501=)
13g.23336364T>GCA387518876SACSc.7512A>C (p.Lys2504Asn)
c.2186-6880A>C (p.=)
c.2431+5081A>C (p.=)
c.5262A>C (p.Lys1754Asn)
n.1058-6880A>C (p.=)
n.2129+5081A>C
c.7071A>C (p.Lys2357Asn)
c.7539A>C (p.Lys2513Asn)
c.7563A>C (p.Lys2521Asn)
c.7530A>C (p.Lys2510Asn)
c.7503A>C (p.Lys2501Asn)
13g.23336365T>ACA387518877SACSc.7511A>T (p.Lys2504Ile)
c.2186-6881A>T (p.=)
c.2431+5080A>T (p.=)
c.5261A>T (p.Lys1754Ile)
n.1058-6881A>T (p.=)
n.2129+5080A>T
c.7070A>T (p.Lys2357Ile)
c.7538A>T (p.Lys2513Ile)
c.7562A>T (p.Lys2521Ile)
c.7529A>T (p.Lys2510Ile)
c.7502A>T (p.Lys2501Ile)
13g.23336365T>CCA387518878SACSc.7511A>G (p.Lys2504Arg)
c.2186-6881A>G (p.=)
c.2431+5080A>G (p.=)
c.5261A>G (p.Lys1754Arg)
n.1058-6881A>G (p.=)
n.2129+5080A>G
c.7070A>G (p.Lys2357Arg)
c.7538A>G (p.Lys2513Arg)
c.7562A>G (p.Lys2521Arg)
c.7529A>G (p.Lys2510Arg)
c.7502A>G (p.Lys2501Arg)
13g.23336365T>GCA387518879SACSc.7511A>C (p.Lys2504Thr)
c.2186-6881A>C (p.=)
c.2431+5080A>C (p.=)
c.5261A>C (p.Lys1754Thr)
n.1058-6881A>C (p.=)
n.2129+5080A>C
c.7070A>C (p.Lys2357Thr)
c.7538A>C (p.Lys2513Thr)
c.7562A>C (p.Lys2521Thr)
c.7529A>C (p.Lys2510Thr)
c.7502A>C (p.Lys2501Thr)
13g.23336366T>ACA387518880SACSc.7510A>T (p.Lys2504Ter)
c.2186-6882A>T (p.=)
c.2431+5079A>T (p.=)
c.5260A>T (p.Lys1754Ter)
n.1058-6882A>T (p.=)
n.2129+5079A>T
c.7069A>T (p.Lys2357Ter)
c.7537A>T (p.Lys2513Ter)
c.7561A>T (p.Lys2521Ter)
c.7528A>T (p.Lys2510Ter)
c.7501A>T (p.Lys2501Ter)
13g.23336366T>CCA387518881SACSc.7510A>G (p.Lys2504Glu)
c.2186-6882A>G (p.=)
c.2431+5079A>G (p.=)
c.5260A>G (p.Lys1754Glu)
n.1058-6882A>G (p.=)
n.2129+5079A>G
c.7069A>G (p.Lys2357Glu)
c.7537A>G (p.Lys2513Glu)
c.7561A>G (p.Lys2521Glu)
c.7528A>G (p.Lys2510Glu)
c.7501A>G (p.Lys2501Glu)
13g.23336366T>GCA387518882SACSc.7510A>C (p.Lys2504Gln)
c.2186-6882A>C (p.=)
c.2431+5079A>C (p.=)
c.5260A>C (p.Lys1754Gln)
n.1058-6882A>C (p.=)
n.2129+5079A>C
c.7069A>C (p.Lys2357Gln)
c.7537A>C (p.Lys2513Gln)
c.7561A>C (p.Lys2521Gln)
c.7528A>C (p.Lys2510Gln)
c.7501A>C (p.Lys2501Gln)
13g.23336367G>ACA483160862SACSc.7509C>T (p.His2503=)
c.2186-6883C>T (p.=)
c.2431+5078C>T (p.=)
c.5259C>T (p.His1753=)
n.1058-6883C>T (p.=)
n.2129+5078C>T
c.7068C>T (p.His2356=)
c.7536C>T (p.His2512=)
c.7560C>T (p.His2520=)
c.7527C>T (p.His2509=)
c.7500C>T (p.His2500=)
13g.23336367G>CCA387518883SACSc.7509C>G (p.His2503Gln)
c.2186-6883C>G (p.=)
c.2431+5078C>G (p.=)
c.5259C>G (p.His1753Gln)
n.1058-6883C>G (p.=)
n.2129+5078C>G
c.7068C>G (p.His2356Gln)
c.7536C>G (p.His2512Gln)
c.7560C>G (p.His2520Gln)
c.7527C>G (p.His2509Gln)
c.7500C>G (p.His2500Gln)
13g.23336367G=CA2078625298SACSc.7509C= (p.His2503=)
c.2186-6883C= (p.=)
c.2431+5078C= (p.=)
c.5259C= (p.His1753=)
n.1058-6883C= (p.=)
n.2129+5078C=
c.7068C= (p.His2356=)
c.7536C= (p.His2512=)
c.7560C= (p.His2520=)
c.7527C= (p.His2509=)
c.7500C= (p.His2500=)
13g.23336367G>TCA6910893SACSc.7509C>A (p.His2503Gln)
c.2186-6883C>A (p.=)
c.2431+5078C>A (p.=)
c.5259C>A (p.His1753Gln)
n.1058-6883C>A (p.=)
n.2129+5078C>A
c.7068C>A (p.His2356Gln)
c.7536C>A (p.His2512Gln)
c.7560C>A (p.His2520Gln)
c.7527C>A (p.His2509Gln)
c.7500C>A (p.His2500Gln)
dbSNP ExAC gnomAD
13g.23336368T>ACA387518884SACSc.7508A>T (p.His2503Leu)
c.2186-6884A>T (p.=)
c.2431+5077A>T (p.=)
c.5258A>T (p.His1753Leu)
n.1058-6884A>T (p.=)
n.2129+5077A>T
c.7067A>T (p.His2356Leu)
c.7535A>T (p.His2512Leu)
c.7559A>T (p.His2520Leu)
c.7526A>T (p.His2509Leu)
c.7499A>T (p.His2500Leu)
13g.23336368T>CCA387518886SACSc.7508A>G (p.His2503Arg)
c.2186-6884A>G (p.=)
c.2431+5077A>G (p.=)
c.5258A>G (p.His1753Arg)
n.1058-6884A>G (p.=)
n.2129+5077A>G
c.7067A>G (p.His2356Arg)
c.7535A>G (p.His2512Arg)
c.7559A>G (p.His2520Arg)
c.7526A>G (p.His2509Arg)
c.7499A>G (p.His2500Arg)
13g.23336368T>GCA387518885SACSc.7508A>C (p.His2503Pro)
c.2186-6884A>C (p.=)
c.2431+5077A>C (p.=)
c.5258A>C (p.His1753Pro)
n.1058-6884A>C (p.=)
n.2129+5077A>C
c.7067A>C (p.His2356Pro)
c.7535A>C (p.His2512Pro)
c.7559A>C (p.His2520Pro)
c.7526A>C (p.His2509Pro)
c.7499A>C (p.His2500Pro)
13g.23336370_23336398dupCA2078625304SACSc.7480_7508dup (p.His2503GlnfsTer2)
c.2186-6912_2186-6884dup (p.=)
c.2431+5049_2431+5077dup (p.=)
c.5230_5258dup (p.His1753GlnfsTer2)
n.1058-6912_1058-6884dup (p.=)
n.2129+5049_2129+5077dup
c.7039_7067dup (p.His2356GlnfsTer2)
c.7507_7535dup (p.His2512GlnfsTer2)
c.7531_7559dup (p.His2520GlnfsTer2)
c.7498_7526dup (p.His2509GlnfsTer2)
c.7471_7499dup (p.His2500GlnfsTer2)
dbSNP
13g.23336369G>ACA387518887SACSc.7507C>T (p.His2503Tyr)
c.2186-6885C>T (p.=)
c.2431+5076C>T (p.=)
c.5257C>T (p.His1753Tyr)
n.1058-6885C>T (p.=)
n.2129+5076C>T
c.7066C>T (p.His2356Tyr)
c.7534C>T (p.His2512Tyr)
c.7558C>T (p.His2520Tyr)
c.7525C>T (p.His2509Tyr)
c.7498C>T (p.His2500Tyr)

Number of alleles fetched