NC_000009.12:g.108879632_108879635del


NM_003640.5(ELP1):c.126T>G

rs2275640 
NM_003640.5(ELP1):c.17G>A

rs199738099 
NM_003640.5(ELP1):c.301C>G

rs2275641 
NM_003640.5(ELP1):c.31G>C


NM_003640.5(ELP1):c.56+101G>C


NM_003640.5(ELP1):c.59_56+15del

rs993537831 
NM_003640.5(ELP1):c.64G>A

rs575166769 
NM_003640.5(ELP1):c.71G>C

rs2275639 
NM_003640.5(ELP1):c.1017C>A (p.Ser339Arg)

rs56053149 
NM_003640.5(ELP1):c.1075C>T (p.Leu359=)

rs2230789 
NM_003640.5(ELP1):c.1143G>A (p.Val381=)

rs35936107 
NM_003640.5(ELP1):c.1144G>A (p.Gly382Arg)

rs776167946 
NM_003640.5(ELP1):c.1190249C>T


NM_003640.5(ELP1):c.1230G>A (p.Pro410=)

rs41278359 
NM_003640.5(ELP1):c.1251A>G (p.Gln417=)

rs763812233 
NM_003640.5(ELP1):c.1360+153C>G


NM_003640.5(ELP1):c.1360+293C>T


NM_003640.5(ELP1):c.1361140A>G


NM_003640.5(ELP1):c.136123A>G


NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly)

rs149685738 
NM_003640.5(ELP1):c.1460+72A>G


NM_003640.5(ELP1):c.1461121T>C


NM_003640.5(ELP1):c.150+145A>G


NM_003640.5(ELP1):c.150+16A>G

rs148164198 
NM_003640.5(ELP1):c.1574G>A (p.Arg525Gln)

rs838827 
NM_003640.5(ELP1):c.164415_164413del

rs753571092 
NM_003640.5(ELP1):c.1644203G>A


NM_003640.5(ELP1):c.1704A>G (p.Ser568=)

rs138192941 
NM_003640.5(ELP1):c.1721C>T (p.Ala574Val)

rs35455790 
NM_003640.5(ELP1):c.1730A>G (p.Gln577Arg)

rs879254309 
NM_003640.5(ELP1):c.1750+115C>G


NM_003640.5(ELP1):c.1750+233C>G


NM_003640.5(ELP1):c.1854+283G>T


NM_003640.5(ELP1):c.1854+41C>T


NM_003640.5(ELP1):c.1855160A>G


NM_003640.5(ELP1):c.1855217A>G


NM_003640.5(ELP1):c.1886G>A (p.Arg629His)

rs148378319 
NM_003640.5(ELP1):c.189C>T (p.Leu63=)

rs2230786 
NM_003640.5(ELP1):c.1926G>A (p.Thr642=)

rs10979605 
NM_003640.5(ELP1):c.1965C>T (p.Thr655=)

rs2230791 
NM_003640.5(ELP1):c.201520T>C

rs760415006 
NM_003640.5(ELP1):c.2015328G>A


NM_003640.5(ELP1):c.201571G>A


NM_003640.5(ELP1):c.201572C>T


NM_003640.5(ELP1):c.2025C>T (p.Ala675=)

rs200532312 
NM_003640.5(ELP1):c.2065C>T (p.Arg689Trp)

rs201390288 
NM_003640.5(ELP1):c.209G>A (p.Arg70His)

rs111936933 
NM_003640.5(ELP1):c.2131113T>G


NM_003640.5(ELP1):c.2131175C>T


NM_003640.5(ELP1):c.2204+18G>C

rs115641835 
NM_003640.5(ELP1):c.2204+6T>C

rs111033171 
NM_003640.5(ELP1):c.2205121C>T


NM_003640.5(ELP1):c.2205197C>T


NM_003640.5(ELP1):c.2294G>A (p.Gly765Glu)

rs2230792 
NM_003640.5(ELP1):c.2363+159G>T


NM_003640.5(ELP1):c.2363+70A>G


NM_003640.5(ELP1):c.2394T>C (p.Pro798=)

rs138819925 
NM_003640.5(ELP1):c.2436C>T (p.Asp812=)

rs113967847 
NM_003640.5(ELP1):c.2446A>C (p.Ile816Leu)

rs2230793 
NM_003640.5(ELP1):c.2490A>G (p.Ile830Met)

rs2230794 
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter)

rs767527819 
NM_003640.5(ELP1):c.2506T>A (p.Cys836Ser)

rs879253977 
NM_003640.5(ELP1):c.2529T>C (p.His843=)

rs757233952 
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn)

rs10979599 
NM_003640.5(ELP1):c.2587+14C>T

rs141670242 
NM_003640.5(ELP1):c.258811_258810insAC


NM_003640.5(ELP1):c.258839A>C


NM_003640.5(ELP1):c.258897A>G


NM_003640.5(ELP1):c.2631C>T (p.Ala877=)

rs138023874 
NM_003640.5(ELP1):c.2736+304T>C


NM_003640.5(ELP1):c.2736+308A>G


NM_003640.5(ELP1):c.2737179C>T


NM_003640.5(ELP1):c.2790T>C (p.Asn930=)

rs1057521262 
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)

rs149845612 
NM_003640.5(ELP1):c.2860+291T>A


NM_003640.5(ELP1):c.286A>G (p.Ser96Gly)

rs35942802 
NM_003640.5(ELP1):c.2948A>T (p.Gln983Leu)

rs749200669 
NM_003640.5(ELP1):c.2958+202T>C


NM_003640.5(ELP1):c.3014C>T (p.Ala1005Val)

rs55658431 
NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser)

rs2230795 
NM_003640.5(ELP1):c.304220C>T


NM_003640.5(ELP1):c.3160+23T>C


NM_003640.5(ELP1):c.3160+47A>T


NM_003640.5(ELP1):c.3222+113A>G


NM_003640.5(ELP1):c.3222+115A>G


NM_003640.5(ELP1):c.3222+14C>T

rs374787755 
NM_003640.5(ELP1):c.3222+205T>G


NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly)

rs146440397 
NM_003640.5(ELP1):c.3285+9C>T

rs2275495 
NM_003640.5(ELP1):c.3346+110C>T


NM_003640.5(ELP1):c.3346+7G>T

rs144631706 
NM_003640.5(ELP1):c.334715A>G

rs200154542 
NM_003640.5(ELP1):c.3398G>A (p.Arg1133His)

rs143580972 
NM_003640.5(ELP1):c.3460+13G>A

rs149897637 
NM_003640.5(ELP1):c.3460+13G>T

rs149897637 
NM_003640.5(ELP1):c.3474C>T (p.Pro1158=)

rs146956297 
NM_003640.5(ELP1):c.348T>C (p.Ser116=)

rs2230787 
NM_003640.5(ELP1):c.3572+199C>T


NM_003640.5(ELP1):c.3572+99G>A


NM_003640.5(ELP1):c.359A>G (p.Asp120Gly)

rs879254229 
NM_003640.5(ELP1):c.360C>G (p.Asp120Glu)

rs775972369 
NM_003640.5(ELP1):c.3636G>A (p.Pro1212=)

rs780520998 
NM_003640.5(ELP1):c.3700+236G>A


NM_003640.5(ELP1):c.3701124A>C


NM_003640.5(ELP1):c.3701166T>C


NM_003640.5(ELP1):c.3701202G>A


NM_003640.5(ELP1):c.370195C>G


NM_003640.5(ELP1):c.3730T>G (p.Phe1244Val)

rs756928248 
NM_003640.5(ELP1):c.385614dup

rs1554737879 
NM_003640.5(ELP1):c.3856221C>A


NM_003640.5(ELP1):c.385654C>A


NM_003640.5(ELP1):c.385681G>T


NM_003640.5(ELP1):c.385682G>C


NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser)

rs145319352 
NM_003640.5(ELP1):c.3931+189G>A


NM_003640.5(ELP1):c.3932185G>A


NM_003640.5(ELP1):c.441G>A (p.Gln147=)

rs2230788 
NM_003640.5(ELP1):c.470A>G (p.Lys157Arg)

rs557686367 
NM_003640.5(ELP1):c.552+133A>G


NM_003640.5(ELP1):c.552+215G>A


NM_003640.5(ELP1):c.56G>A (p.Gly19Glu)

rs771715592 
NM_003640.5(ELP1):c.606G>T (p.Gly202=)

rs768309637 
NM_003640.5(ELP1):c.6507C>T

rs368410371 
NM_003640.5(ELP1):c.740+226A>G


NM_003640.5(ELP1):c.741104TCAT[5]


NM_003640.5(ELP1):c.751A>G (p.Ser251Gly)

rs17853166 
NM_003640.5(ELP1):c.80G>A (p.Arg27Gln)

rs375666523 
NM_003640.5(ELP1):c.819C>T (p.Leu273=)

rs12340246 
NM_003640.5(ELP1):c.888A>G (p.Ala296=)

rs371923882 
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro)

rs78135392 
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys)

rs1140064 
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu)

rs374814563 
NM_003640.5(ELP1):c.948G>A (p.Pro316=)

rs148917889 
NM_003640.5(ELP1):c.958+56A>T


NM_003640.5(ELP1):c.959118C>T


NM_003640.5(ELP1):c.95915C>T

rs112114410 
NM_003640.5(ELP1):c.95944T>G

