RAG1
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.7618C>T
CDS: c.2326C>T
AnimoAcid: p.Arg776Trp		 Substitutions Direct sequencing Xiao Z et al., 2009
2 Substitutions Genomic: g.6232C>T
CDS: c.940C>T
AnimoAcid: p.Arg314Trp		 Substitutions NA Schuetz C et al., 2008
3 Substitutions Genomic: g.7502G>A
CDS: c.2210G>A
AnimoAcid: p.Arg737His		 Substitutions NA Schuetz C et al., 2008
4 Substitutions Genomic: g.6811C>T
CDS: c.1519C>T
AnimoAcid: p.Arg507Trp		 Substitutions NA Schuetz C et al., 2008
5 Substitutions Genomic: g.7625G>A
CDS: c.2333G>A
AnimoAcid: p.Arg778Gln		 Substitutions NA Schuetz C et al., 2008
6 Substitutions Genomic: g.8215C>T
CDS: c.2923C>T
AnimoAcid: p.Arg975Trp		 Substitutions NA Schuetz C et al., 2008
7 Deletion Genomic: g.5811delT
CDS: c.519delT
AnimoAcid: p.Glu174SerfsX27		 Deletion Direct sequencing de Villartay JP et al., 2005
8 Substitutions Genomic: g.7813C>T
CDS: c.2521C>T
AnimoAcid: p.Arg841Trp		 Substitutions Direct sequencing de Villartay JP et al., 2005
9 Deletion Genomic: g.5548_5549delAA
CDS: c.256_257delAA
AnimoAcid: p.Lys86ValfsX33		 Deletion Direct sequencing de Villartay JP et al., 2005
10 Substitutions Genomic: g.8234A>C
CDS: c.2942A>C
AnimoAcid: p.Gln981Pro		 Substitutions Direct sequencing de Villartay JP et al., 2005
11 Substitutions Genomic: g.7978T>C
CDS: c.2686T>C
AnimoAcid: p.Trp896Arg		 Substitutions Direct sequencing Zhang J et al., 2005
12 Deletion Genomic: g.5811delT
CDS: c.519delT
AnimoAcid: p.Glu174SerfsX27		 Deletion Fluorescent sequencing Noordzij JG et al., 2002
13 Substitutions Genomic: g.6503G>A
CDS: c.1211G>A
AnimoAcid: p.Arg404Gln		 Substitutions Fluorescent sequencing Noordzij JG et al., 2002
14 Substitutions Genomic: g.6969G>T
CDS: c.1677G>T
AnimoAcid: p.Arg559Ser		 Substitutions Direct sequencing Kumaki S et al., 2001
15 Substitutions Genomic: g.7981C>T
CDS: c.2689C>T
AnimoAcid: p.Arg897X		 Substitutions Direct sequencing Kumaki S et al., 2001
16 Substitutions Genomic: g.7486C>T
CDS: c.2194C>T
AnimoAcid: p.Leu732Phe		 Substitutions Direct sequencing Corneo B et al., 2001
17 Substitutions Genomic: g.8210G>A
CDS: c.2918G>A
AnimoAcid: p.Arg973His		 Substitutions Direct sequencing Corneo B et al., 2001
18 Deletion Genomic: g.5811delT
CDS: c.519delT
AnimoAcid: p.Glu174SerfsX27		 Deletion Direct sequencing Corneo B et al., 2001
19 Substitutions Genomic: g.6502C>T
CDS: c.1210C>T
AnimoAcid: p.Arg404Trp		 Substitutions Direct sequencing Corneo B et al., 2001
20 Deletion Genomic: g.7915delT
CDS: c.2623delT
AnimoAcid: p.Ser875ProfsX8		 Deletion Direct sequencing Corneo B et al., 2001
21 Substitutions Genomic: g.6713G>A
CDS: c.1421G>A
AnimoAcid: p.Arg474His		 Substitutions Direct sequencing Corneo B et al., 2001
22 Substitutions Genomic: g.7163G>A
CDS: c.1871G>A
AnimoAcid: p.Arg624His		 Substitutions Direct sequencing Corneo B et al., 2001
23 Substitutions Genomic: g.8266A>G
CDS: c.2974A>G
AnimoAcid: p.Lys992Glu		 Substitutions Direct sequencing Corneo B et al., 2001
24 Deletion Genomic: g.5548_5549delAA
CDS: c.256_257delAA
AnimoAcid: p.Lys86ValfsX33		 Deletion Direct sequencing Corneo B et al., 2001
25 Substitutions Genomic: g.6291T>A
CDS: c.999T>A
AnimoAcid: p.Tyr333X		 Substitutions Direct sequencing Corneo B et al., 2001
26 Substitutions Genomic: g.7059C>G
CDS: c.1767C>G
AnimoAcid: p.Tyr589X		 Substitutions Direct sequencing Villa A et al., 2001
27 Substitutions Genomic: g.7456G>A
CDS: c.2164G>A
AnimoAcid: p.Glu722Lys		 Substitutions Direct sequencing Villa A et al., 2001
28 Substitutions Genomic: g.7612G>T
CDS: c.2320G>T
AnimoAcid: p.Glu774X		 Substitutions Direct sequencing Villa A et al., 2001
29 Substitutions Genomic: g.7907T>A
CDS: c.2615T>A
AnimoAcid: p.Leu872X		 Substitutions Direct sequencing Villa A et al., 2001
30 Deletion Genomic: g.7362_7369del8
CDS: c.2070_2077del8
AnimoAcid: p.Met691SerfsX57		 Deletion Direct sequencing Villa A et al., 2001
31 Deletion Genomic: g.6701_6702del2
CDS: c.1409_1410del2
AnimoAcid: p.Cys470PhefsX40		 Deletion Direct sequencing Villa A et al., 2001
32 Substitutions Genomic: g.7856A>T
CDS: c.2564A>T
AnimoAcid: p.Asn855Ile		 Substitutions Direct sequencing Villa A et al., 2001
33 Substitutions Genomic: g.7981C>T
CDS: c.2689C>T
AnimoAcid: p.Arg897X		 Substitutions Direct sequencing Villa A et al., 2001
34 Substitutions Genomic: g.7163G>A
CDS: c.1871G>A
AnimoAcid: p.Arg624His		 Substitutions Direct sequencing Villa A et al., 2001
35 Substitutions Genomic: g.8168G>A
CDS: c.2876G>A
AnimoAcid: p.Trp959X		 Substitutions Direct sequencing Villa A et al., 2001
36 Substitutions Genomic: g.8106T>G
CDS: c.2814T>G
AnimoAcid: p.Tyr938X		 Substitutions Direct sequencing Villa A et al., 2001
37 Deletion Genomic: g.6441delA
CDS: c.1149delA
AnimoAcid: p.Glu384ArgfsX19		 Deletion Direct sequencing Villa A et al., 2001
38 Substitutions Genomic: g.6478C>T
CDS: c.1186C>T
AnimoAcid: p.Arg396Cys		 Substitutions Direct sequencing Villa A et al., 2001
39 Substitutions Genomic: g.6713G>A
CDS: c.1421G>A
AnimoAcid: p.Arg474His		 Substitutions Direct sequencing Villa A et al., 2001
40 Substitutions Genomic: g.7550A>T
CDS: c.2258A>T
AnimoAcid: p.His753Leu		 Substitutions Direct sequencing Villa A et al., 2001
41 Substitutions Genomic: g.6589G>A
CDS: c.1297G>A
AnimoAcid: p.Val433Met		 Substitutions Direct sequencing Villa A et al., 2001
42 Substitutions Genomic: g.6623C>T
CDS: c.1331C>T
AnimoAcid: p.Ala444Val		 Substitutions Direct sequencing Villa A et al., 2001
43 Substitutions Genomic: g.6811C>T
CDS: c.1519C>T
AnimoAcid: p.Arg507Trp		 Substitutions Direct sequencing Villa A et al., 2001
44 Substitutions Genomic: g.6973C>T
CDS: c.1681C>T
AnimoAcid: p.Arg561Cys		 Substitutions Direct sequencing Villa A et al., 2001
45 Substitutions Genomic: g.6578A>G
CDS: c.1286A>G
AnimoAcid: p.Asp429Gly		 Substitutions Direct sequencing Villa A et al., 2001
46 Deletion Genomic: g.5548_5549delAA
CDS: c.256_257delAA
AnimoAcid: p.Lys86ValfsX33		 Deletion Direct sequencing Villa A et al., 2001
47 Substitutions Genomic: g.7813C>T
CDS: c.2521C>T
AnimoAcid: p.Arg841Trp		 Substitutions Direct sequencing Villa A et al., 2001
48 Substitutions Genomic: g.6521G>A
CDS: c.1229G>A
AnimoAcid: p.Arg410Gln		 Substitutions Direct sequencing Villa A et al., 2001
49 Substitutions Genomic: g.6858G>T
CDS: c.1566G>T
AnimoAcid: p.Trp522Cys		 Substitutions Direct sequencing Villa A et al., 2001
50 Substitutions Genomic: g.6493T>C
CDS: c.1201T>C
AnimoAcid: p.Ser401Pro		 Substitutions Direct sequencing Villa A et al., 2001
51 Substitutions Genomic: g.6275G>A
CDS: c.983G>A
AnimoAcid: p.Cys328Tyr		 Substitutions Direct sequencing Villa A et al., 2001
52 Substitutions Genomic: g.6479G>A
CDS: c.1187G>A
AnimoAcid: p.Arg396His		 Substitutions Direct sequencing Villa A et al., 2001
53 Deletion Genomic: g.6903_6915del13
CDS: c.1611_1623del13
AnimoAcid: p.Ile538LeufsX29		 Deletion Direct sequencing Villa A et al., 2001
54 Substitutions Genomic: g.7298A>G
CDS: c.2006A>G
AnimoAcid: p.Glu669Gly		 Substitutions Direct sequencing Villa A et al., 2001
55 Substitutions Genomic: g.7992C>A
CDS: c.2700C>A
AnimoAcid: p.Cys900X		 Substitutions Direct sequencing Villa A et al., 2001
56 Substitutions Genomic: g.8027A>G
CDS: c.2735A>G
AnimoAcid: p.Tyr912Cys		 Substitutions Direct sequencing Villa A et al., 2001
57 Substitutions Genomic: g.6974G>A
CDS: c.1682G>A
AnimoAcid: p.Arg561His		 Substitutions Direct sequencing Villa A et al., 2001
58 Substitutions Genomic: g.6479G>T
CDS: c.1187G>T
AnimoAcid: p.Arg396Leu		 Substitutions Direct sequencing Villa A et al., 2001
59 Substitutions Genomic: g.8216G>A
CDS: c.2924G>A
AnimoAcid: p.Arg975Gln		 Substitutions Direct sequencing Villa A et al., 2001
60 Substitutions Genomic: g.7502G>A
CDS: c.2210G>A
AnimoAcid: p.Arg737His		 Substitutions Direct sequencing Villa A et al., 2001
61 Substitutions Genomic: g.7162C>T
CDS: c.1870C>T
AnimoAcid: p.Arg624Cys		 Substitutions Direct sequencing Villa A et al., 2001
62 Substitutions Genomic: g.6969G>T
CDS: c.1677G>T
AnimoAcid: p.Arg559Ser		 Substitutions Direct sequencing Villa A et al., 2001
63 Substitutions Genomic: g.6595A>G
CDS: c.1303A>G
AnimoAcid: p.Met435Val		 Substitutions Direct sequencing Villa A et al., 2001
64 Deletion Genomic: g.5548_5549delAA
CDS: c.256_257delAA
AnimoAcid: p.Lys86ValfsX33		 Deletion Direct sequencing Santagata S et al., 2000
65 Substitutions Genomic: g.7162C>T
CDS: c.1870C>T
AnimoAcid: p.Arg624Cys		 Substitutions Direct sequencing Santagata S et al., 2000
66 Substitutions Genomic: g.7456G>A
CDS: c.2164G>A
AnimoAcid: p.Glu722Lys		 Substitutions Direct sequencing Santagata S et al., 2000
67 Substitutions Genomic: g.7779G>T
CDS: c.2487G>T
AnimoAcid: p.Arg829X		 Substitutions Direct sequencing Santagata S et al., 2000
68 Duplications Genomic: g.7200_7218dup19
CDS: c.1908_1926dup19
AnimoAcid: p.Val643GlnfsX9		 Duplications Direct sequencing Santagata S et al., 2000
69 Deletion Genomic: g.6067delA
CDS: c.775delA
AnimoAcid: p.Ser259AlafsX5		 Deletion Direct sequencing Santagata S et al., 2000
70 Deletion Genomic: g.5811delT
CDS: c.519delT
AnimoAcid: p.Glu174SerfsX27		 Deletion Direct sequencing Noordzij JG et al., 2000
71 Substitutions Genomic: g.6974G>A
CDS: c.1682G>A
AnimoAcid: p.Arg561His		 Substitutions Direct sequencing Villa A et al., 1998
72 Substitutions Genomic: g.6478C>T
CDS: c.1186C>T
AnimoAcid: p.Arg396Cys		 Substitutions Direct sequencing Villa A et al., 1998
73 Substitutions Genomic: g.8027A>G
CDS: c.2735A>G
AnimoAcid: p.Tyr912Cys		 Substitutions Direct sequencing Villa A et al., 1998
74 Substitutions Genomic: g.6479G>A
CDS: c.1187G>A
AnimoAcid: p.Arg396His		 Substitutions Direct sequencing Villa A et al., 1998
75 Deletion Genomic: g.6903_6915del13
CDS: c.1611_1623del13
AnimoAcid: p.Ile538LeufsX29		 Deletion Direct sequencing Villa A et al., 1998
76 Deletion Genomic: g.5548_5549delAA
CDS: c.256_257delAA
AnimoAcid: p.Lys86ValfsX33		 Deletion Direct sequencing Villa A et al., 1998
77 Substitutions Genomic: g.6578A>G
CDS: c.1286A>G
AnimoAcid: p.Asp429Gly		 Substitutions Direct sequencing Villa A et al., 1998
78 Substitutions Genomic: g.6973C>T
CDS: c.1681C>T
AnimoAcid: p.Arg561Cys		 Substitutions Direct sequencing Villa A et al., 1998
79 Substitutions Genomic: g.7502G>A
CDS: c.2210G>A
AnimoAcid: p.Arg737His		 Substitutions Direct sequencing Villa A et al., 1998
80 Substitutions Genomic: g.6974G>A
CDS: c.1682G>A
AnimoAcid: p.Arg561His		 Substitutions NA Ehl S et al., 2005
81 Substitutions Genomic: g.6478C>T
CDS: c.1186C>T
AnimoAcid: p.Arg396Cys		 Substitutions Direct sequencing Wada T et al., 2000
82 Substitutions Genomic: g.7946T>G
CDS: c.2654T>G
AnimoAcid: p.Leu885Arg		 Substitutions Direct sequencing Wada T et al., 2000
83 Substitutions Genomic: g.5759C>T
CDS: c.467C>T
AnimoAcid: p.Ala156Val		 Substitutions Dideoxy fingerprinting Signorini S et al., 1999
84 Substitutions Genomic: g.6578A>G
CDS: c.1286A>G
AnimoAcid: p.Asp429Gly		 Substitutions Dideoxy fingerprinting Villa A et al., 2000
85 Substitutions Genomic: g.7456G>A
CDS: c.2164G>A
AnimoAcid: p.Glu722Lys		 Substitutions Dideoxy fingerprinting Villa A et al., 2000
86 Substitutions Genomic: g.6858G>T
CDS: c.1566G>T
AnimoAcid: p.Trp522Cys		 Substitutions Dideoxy fingerprinting Villa A et al., 2000
87 Substitutions Genomic: g.7456G>A
CDS: c.2164G>A
AnimoAcid: p.Glu722Lys		 Substitutions Direct sequencing, SSCP Schwarz K et al., 1996
88 Substitutions Genomic: g.7612G>T
CDS: c.2320G>T
AnimoAcid: p.Glu774X		 Substitutions Direct sequencing, SSCP Schwarz K et al., 1996
89 Substitutions Genomic: g.8106T>G
CDS: c.2814T>G
AnimoAcid: p.Tyr938X		 Substitutions Direct sequencing, SSCP Schwarz K et al., 1996
90 Substitutions Genomic: g.7981C>T
CDS: c.2689C>T
AnimoAcid: p.Arg897X		 Substitutions Direct sequencing, SSCP Schwarz K et al., 1996
91 Substitutions Genomic: g.7163G>A
CDS: c.1871G>A
AnimoAcid: p.Arg624His		 Substitutions Direct sequencing, SSCP Schwarz K et al., 1996
92 Deletion Genomic: g.7294delC
CDS: c.2002delC
AnimoAcid: p.His668Thrfs		 Deletion Direct sequencing Wada T et al., 2005
93 Substitutions Genomic: g.6472C>T
CDS: c.1180C>T
AnimoAcid: p.Arg394Trp		 Substitutions Direct sequencing Sobacchi C et al., 2006
94 Substitutions Genomic: g.6034C>T
CDS: c.742C>T
AnimoAcid: p.Gln248X		 Substitutions Direct sequencing Sobacchi C et al., 2006
95 Deletion Genomic: g.5546_5548delCTA
CDS: c.254_256delCTA
AnimoAcid: p.Pro85Glnfs		 Deletion Direct sequencing Sobacchi C et al., 2006
96 Substitutions Genomic: g.7438C>T
CDS: c.2146C>T
AnimoAcid: p.Arg716Trp		 Substitutions Direct sequencing Sobacchi C et al., 2006
97 Substitutions Genomic: g.5698A>C
CDS: c.406A>C
AnimoAcid: p.Lys136Gln		 Substitutions Direct sequencing Sobacchi C et al., 2006
98 Substitutions Genomic: g.5867G>A
CDS: c.575G>A
AnimoAcid: p.Cys192Tyr		 Substitutions Direct sequencing Sobacchi C et al., 2006
99 Substitutions Genomic: g.8159T>C
CDS: c.2867T>C
AnimoAcid: p.Ile956Thr		 Substitutions Direct sequencing Sobacchi C et al., 2006
100 Substitutions Genomic: g.7418G>A
CDS: c.2126G>A
AnimoAcid: p.Gly709Asp		 Substitutions Direct sequencing Sobacchi C et al., 2006
101 Substitutions Genomic: g.7059C>G
CDS: c.1767C>G
AnimoAcid: p.Tyr589X		 Substitutions Direct sequencing Sobacchi C et al., 2006
102 Deletion Genomic: g.7239delT
CDS: c.1947delT
AnimoAcid: p.Asn650ThrfsX22		 Deletion Direct sequencing Sobacchi C et al., 2006
103 Substitutions Genomic: g.7241A>G
CDS: c.1949A>G
AnimoAcid: p.Asn650Ser		 Substitutions Direct sequencing Sobacchi C et al., 2006
104 Substitutions Genomic: g.6712C>A
CDS: c.1420C>A
AnimoAcid: p.Arg474Ser		 Substitutions Direct sequencing Sobacchi C et al., 2006
105 Substitutions Genomic: g.7156G>C
CDS: c.1864G>C
AnimoAcid: p.Ala622Pro		 Substitutions Direct sequencing Sobacchi C et al., 2006
106 Substitutions Genomic: g.7779G>T
CDS: c.2487G>T
AnimoAcid: p.Arg829Ser		 Substitutions Direct sequencing Sobacchi C et al., 2006
107 Substitutions Genomic: g.7780A>T
CDS: c.2488A>T
AnimoAcid: p.Lys830X		 Substitutions Direct sequencing Sobacchi C et al., 2006
108 Substitutions Genomic: g.7624C>T
CDS: c.2332C>T
AnimoAcid: p.Arg778Trp		 Substitutions Direct sequencing Sobacchi C et al., 2006
109 Deletion Genomic: g.6057delA
CDS: c.765delA
AnimoAcid: p.Arg256GlyfsX8		 Deletion Direct sequencing Sobacchi C et al., 2006
110 Substitutions Genomic: g.6503G>A
CDS: c.1211G>A
AnimoAcid: p.Arg404Gln		 Substitutions Direct sequencing Sobacchi C et al., 2006
111 Substitutions Genomic: g.6973C>T
CDS: c.1681C>T
AnimoAcid: p.Arg561Cys		 Substitutions Direct sequencing Sobacchi C et al., 2006
112 Substitutions Genomic: g.8267A>G
CDS: c.2975A>G
AnimoAcid: p.Lys992Arg		 Substitutions Direct sequencing Sobacchi C et al., 2006
113 Substitutions Genomic: g.6638G>A
CDS: c.1346G>A
AnimoAcid: p.Arg449Lys		 Substitutions Direct sequencing Sobacchi C et al., 2006
114 Substitutions Genomic: g.7098T>G
CDS: c.1806T>G
AnimoAcid: p.Cys602Trp		 Substitutions Direct sequencing Sobacchi C et al., 2006
115 Deletion Genomic: g.5811delT
CDS: c.519delT
AnimoAcid: p.Glu174Serfs		 Deletion PCR based assay Jaouad IC et al., 2008
116 Substitutions Genomic: g.7813C>T
CDS: c.2521C>T
AnimoAcid: p.Arg841Trp		 Substitutions Direct sequencing McCusker C et al., 2009
117 Substitutions Genomic: g.6493T>C
CDS: c.1201T>C
AnimoAcid: p.Ser401Pro		 Substitutions Direct sequencing Alsmadi O et al., 2009
118 Substitutions Genomic: g.6479G>A
CDS: c.1187G>A
AnimoAcid: p.Arg396His		 Substitutions Direct sequencing Alsmadi O et al., 2009
119 Substitutions Genomic: g.6589G>A
CDS: c.1297G>A
AnimoAcid: p.Val433Met		 Substitutions Direct sequencing Alsmadi O et al., 2009
120 Substitutions Genomic: g.7163G>A
CDS: c.1871G>A
AnimoAcid: p.Arg624His		 Substitutions Direct sequencing Alsmadi O et al., 2009
121 Substitutions Genomic: g.6472C>T
CDS: c.1180C>T
AnimoAcid: p.Arg394Trp		 Substitutions Direct sequencing Alsmadi O et al., 2009
122 Substitutions Genomic: g.6969G>T
CDS: c.1677G>T
AnimoAcid: p.Arg559Ser		 Substitutions Direct sequencing Alsmadi O et al., 2009
123 Substitutions Genomic: g.6858G>T
CDS: c.1566G>T
AnimoAcid: p.Trp522Cys		 Substitutions Direct sequencing De Ravin SS et al., 2010
124 Deletion Genomic: g.6913delC
CDS: c.1621delC
AnimoAcid: p.Leu541CysfsX30		 Deletion Direct sequencing De Ravin SS et al., 2010
125 Substitutions Genomic: g.5716C>T
CDS: c.424C>T
AnimoAcid: p.Arg142X		 Substitutions Direct sequencing Asai E et al., 2010
126 Substitutions Genomic: g.6479G>A
CDS: c.1187G>A
AnimoAcid: p.Arg396His		 Substitutions Direct sequencing Asai E et al., 2010
127 Substitutions Genomic: g.6712C>T
CDS: c.1420C>T
AnimoAcid: p.Arg474Cys		 Substitutions Direct sequencing Asai E et al., 2010
128 Substitutions Genomic: g.7487T>C
CDS: c.2195T>C
AnimoAcid: p.Leu732Pro		 Substitutions Direct sequencing Asai E et al., 2010
129 Substitutions Genomic: g.7600G>A
CDS: c.2308G>A
AnimoAcid: p.Glu770Lys		 Substitutions Direct sequencing Asai E et al., 2010
130 Substitutions Genomic: g.7450G>T
CDS: c.2158G>T
AnimoAcid: p.Gly720Cys		 Substitutions Direct sequencing Corneo B et al., 2001
131 Substitutions Genomic: g.6712C>T
CDS: c.1420C>T
AnimoAcid: p.Arg474Cys		 Substitutions Direct sequencing Kuijpers TW et al., 2011
132 Substitutions Genomic: g.6808C>T
CDS: c.1516C>T
AnimoAcid: p.Leu506Phe		 Substitutions Direct sequencing Kuijpers TW et al., 2011
133 Substitutions Genomic: g.6473G>A
CDS: c.1181G>A
AnimoAcid: p.Arg394Gln		 Substitutions Direct sequencing Kutukculer N et al., 2012
134 Substitutions Genomic: g.7619G>A
CDS: c.2327G>A
AnimoAcid: p.Arg776Gln		 Substitutions Direct sequencing Kutukculer N et al., 2012
135 Substitutions Genomic: g.6034C>T
CDS: c.742C>T
AnimoAcid: p.Gln248X		 Substitutions Direct sequencing Kutukculer N et al., 2012
136 Deletion Genomic: g.5548_5549delAA
CDS: c.256_257delAA
AnimoAcid: p.Lys86ValfsX33		 Deletion Direct sequencing Kutukculer N et al., 2012
137 Deletion Genomic: g.5548_5549delAA
CDS: c.256_257delAA
AnimoAcid: p.Lys86ValfsX33		 Deletion Direct sequencing Sharapova S et al., 2012
138 Substitutions Genomic: g.6623C>T
CDS: c.1331C>T
AnimoAcid: p.Ala444Val		 Substitutions Direct sequencing Sharapova S et al., 2012