Oligo Name

-1293G>C

PstI

0.18 As 0.134 Mix 0.023 Ca	5’-flanking region		CYP2E1*5A CYP2E1*5B	n/a
AL161645.12 /50960	ataactcaaaatccacaagtgatttggctggattgtaaatgacttttattttcttcatttctcatcatattttctattatacataaagattcattgttaatataaaagta(C/T)aaaattgcaacctatgaattaagaacttctatatattgccagttagaagacagaatgaaaaacattctcttcattctaaccacacacacaaaaaactccacaaaatacctatggacta	-1053C>T RsaI	0.18 As 0.134 Mix 0.023 Ca	5’-flanking region		CYP2E1*5A CYP2E1*5B	n/a
AL161645.12 /42260	ttgtagcttctacctattgggctcaagcgatcctcccacctcagcctcccaagtaactgggccacaggtgcacaccaccacacccagctgattaaaaatt(T/A)aaaaaaattattttggctgggcacagtggctcatacctgtaatcctggcactttgggaggctgaggcaggcgatcacgaggtcaggagttcgagacctt	7632T>A DraI	0.137 Mex 0.098 Ca	Intron 6		CYP2E1*5A CYP2E1*6	n/a
AL161645.12 /50238	cggcatggggttggagttgtattacataaaccctactccaaacaaatgcatggggatgtggctggagttccccgttgtctaaccagtgccaaagggcagg(T/A)cggtacctcaccccacgttcttaactatgggttggcaacatgttcctggatgtgtttgctggcacagtgacaggtgctagcaaccagggtgttgacaca	-333T>A	0.20 Ca	5’-flanking region		CYP2E1*7A CYP2E1*7B CYP2E1*7C	n/a
AL161645.12 /49976	gcctttgaaacgatggccaacagcagctaataataaaccagtaatttgggatagacgagtagcaagagggcattggttggtgggtcaccctccttctca(G/T)aacacattataaaaaccttccgtttccacaggattgtctcccgggctggcagcagggccccagcggcaccatgtctgccctcggagtcaccgtggccctg	-71G>T	0.052 Ca	5’-flanking region		CYP2E1*7B	n/a
AL161645.12 /50257	gtaccgtgtctagaggtggtcggcatggggttggagttgtattacataaaccctactccaaacaaatgcatggggatgtggctggagttccccgttgtcta(A/G)ccagtgccaaagggcaggacggtacctcaccccacgttcttaactatgggttggcaacatgttcctggatgtgtttgctggcacagtgacaggtgcta	-352A>G	0.022 Ca	Promoter region		CYP2E1*7C	n/a
Cytochrome P450, subfamily IIIA, polypeptide 4 (CYP3A4); 7q22.1
AF280107.1 /61645	Ggatgtgtaggagtcttctagggggcacaggcacactccaggcataggtaaagatctgtaggtgtggcttgttgggatgaatttcaagtattttggaatgaggacagccatagagacaagggca(A/G)gagagaggcgatttaatagattttatgccaatggctccacttgagtttctgataagaacccagaacccttggactccccagtaacattgattgagttgtttatgatacctcatag	-392A>G CYP3A4-V	0.05 Ca 0.615 AfAm 0 As	Promoter (it falls into the NFSE sequence)		CYP3A4*1B	Decrease activity
AF280107.1 /61593	Gggaggaaatggttacatctgtgtgaggagtttggtgaggaaagactctaagagaaggctctgtctgtctgggtttggaaggatgtgtaggagtcttctagggggcacaggcacactccaggcataggtaaagatctgtaggtgtggcttgt(T/G)gggatgaatttcaagtattttggaatgaggacagccatagagacaagggcaagagagaggcgatttaatagattttatgccaatggctccacttgagtttctgataagaacccagaacccttggactccccagtaacattgattgagtt	-444T>G	0.01 Ca 0 AfAm	Promoter		CYP3A4*1C	n/a
AF280107.1 /61975	Tgcaggcagagcacaggtggccctgctactggctgcagctccagccctgcctccttctctagcatataaacaatccaacagcctcactgaatcactgctgtgcagggcaggaaagctccatgcacatagcccag(C/A)aaagagcaacacagagctgaaaggaagactcagaggagagagataagtaaggaaagtagtgatggctctcatcccagacttggccatggaaacctggcttctcctggctgtcagcctggtgctcctctatctgtgagtaactgt	-62C>A	0.01 Ca 0 AfAm	5’ UTR		CYP3A4*1D	n/a
AF280107.1 /77749	Actcagcgtctttggggcctacagcatggatgtgatcactagcacatcatttggagtgaacatcgactctctcaacaatccacaagacccctttgtggaaaacaccaagaagcttttaagatttgattttttggatccattctttctc(T/C)caataagtatgtggactactatttccttttatttatctttctctcttaaaaataactgctttattgagatataaatcaccatgtaattcatccacttaaaatatacagttcagtgatttgtagtacatttgaagatatgtgtgaccatcatcattttaaactttaaaactt	S222P	0.027 Ca 0 AfAm	Exon 7		CYP3A4*2	Lower oxidase activity for nifedepine but normal hydroxylase activity for testosterone
AF280107.1 /85208	Taagtaagaaaccctaacatgtaactcttaggggtattatgtcattaactttttaaaaatctaccaacgtggaaccagattcagcaagaagaacaaggacaacatagatccttacatatacacaccctttggaagtggacccagaaactgcattggca(T/C)gaggtttgctctcatgaacatgaaacttgctctaatcagagtccttcagaacttctccttcaaaccttgtaaagaaacacaggttagtcaattttctataaaaataatgttgtattaataattcttttaactgagtggtctgtattttttaa	1334T>C M445T	0.0047 Ca 0.009 As	Exon 12		CYP3A4*3	Normal expression and activity
AF280107.1 /75907	Gtagacagtcactaaatagttgttgaataagtgttcctgtttaacacattttctacaaccatggagacctccacaactgatgtaggacaaaatgtttctgctttgaactctagccttttggtccagtgggatttatgaaaagtgcc(A/G)tctctatagctgaggatgaagaatggaagagattacgatcattgctgtctccaaccttcaccagtggaaaactcaaggaggtatgaaaataacatgagttttaataagaaacttaaagaatgaatctggtggggacaggtataaaataagatca	I118V 352A>G	0.0147 As	Exon 5		CYP3A4*4	Decreased activity in vivo
AF280107.1 /77737	tggatgtgatcactagcacatcatttggagtgaacatcgactctctcaacaatccacaagacccctttgtggaaaacaccaagaagcttttaagatttgattttttggatc(C/G)attctttctctcaataagtatgtggactactatttccttttatttatctttctctcttaaaaataactgctttattgagatataaatcaccatgtaattcatccacttaaaatatacagttcagtgat	653C>G P218R	0.0098 As	Exon 7		CYP3A4*5	Decreased activity in vivo
AF280107.1 /79698	agggagatcaaggaccacgcttgtgatttacttctgacttcaggagccactttctgtcagtgaaatttctctttttgcttctagcaccgagtggatttccttcagctgatgattga(insA)ctctcagaattcaaaagaaactgagtcccacaaaggtaaccagagtgtttctgagggctacttgtggggcactcagagggaaggccttgttctgaaaatgtgcaggaagtattccaggatga	831 insA	0.0049 As	Exon 9		CYP3A4*6	Frameshift, presence of a stop codon in position 285 and decrease activity
AF280107.1 /68040	tcctctaactgccagcaagtctgatttcattggcttcgactgttttcatcccaattagaggcagggttaagtacattaaaaataataatcaaatattattttgtttctcctcccagg(G/A)cttttgtatgtttgacatggaatgtcataaaaagtatggaaaagtgtgggggtgagtattctggaaacttccattggatagacttgtttctatgatgagtttaccccactgcacagagga	G167G>A 6004G>A G56D	0.141 Ca	Exon 3		CYP3A4*7	No effect in vitro
AF280107.1 /75944	tggagacctccacaactgatgtaggacaaaatgtttctgctttgaactctagccttttggtccagtgggatttatgaaaagtgccatctctatagctgaggatgaagaatggaagagattac(G/A)atcattgctgtctccaaccttcaccagtggaaaactcaaggaggtatgaaaataacatgagttttaataagaaacttaaagaatgaatctggtggggacaggtataaaataagatca	389G>A 13908G>A R130E	0.0033 Ca	Exon 5		CYP3A4*8	No expression and no presence in vitro
AF280107.1 /76328	actagagtctgcacatttaactatgggtggtgttgtgttttgtgcttagatggtccctatcattgcccagtatggagatgtgttggtgagaaatctgaggcgggaagcagagacaggcaagcct(G/A)tcaccttgaaagagtaagtagaagcgcagccatggggttctgagctgtcatgaacccctccagctgcctgccatggagctgatattcctgctgttgggttattccagtgaccaga	508G>A V170I 14292	0.0024 Ca	Exon 6		CYP3A4*9	No effect in vitro
AF280107.1 /76340	actatgggtggtgttgtgttttgtgcttagatggtccctatcattgcccagtatggagatgtgttggtgagaaatctgaggcgggaagcagagacaggcaagcctgtcaccttgaaa(G/A)agtaagtagaagcgcagccatggggttctgagctgtcatgaacccctccagctgcctgccatggagctgatattcctgctgttgggttattccagtgaccagacaaaaggagggctgtggta	520G>A 14304G>A D174H	0.0024 Ca	Exon 6		CYP3A4*10	No effect in vitro
AF280107.1 /83903	ggactgagttaaaagttaattcaaaatctcaatttatccaaatctgtttcgttctttccaggcaccacccacctatgatactgtgctacagatggagtatcttgacatggtggtgaatgaaa(C/T)gctcagattattcccaattgctatgagacttgagagggtctgcaaaaaagatgttgagatcaatgggatgttcattcccaaaggggtggtggtgatgattccaagctatgctcttca	1088C>T 21867C>T T363M	0.0034 Ca	Exon 11		CYP3A4*11	Lower expression and contents of the protein in vitro
AF280107.1 /83932	caaatctgtttcgttctttccaggcaccacccacctatgatactgtgctacagatggagtatcttgacatggtggtgaatgaaacgctcagattattcccaattgctatgaga(C/T)ttgagagggtctgcaaaaaagatgttgagatcaatgggatgttcattcccaaaggggtggtggtgatgattccaagctatgctcttcaccgtgacccaaagtactggacagagcctgagaagttcc	1117C>T 21896C>T L373F	0.0034 Ca	Exon 11		CYP3A4*12	Lower expression and contents of protein and a higher activity for hyroxylation of testosterone but no change for progesterone
AF280107.1 /84062	gcaaaaaagatgttgagatcaatgggatgttcattcccaaaggggtggtggtgatgattccaagctatgctcttcaccgtgacccaaagtactggacagagcctgagaagttcctcc(C/T)tgaaaggtacaaggcccctgggaagggagccctccctgaaccagcctggttcaagcatattctgcctctcttaatctacaggacagtcatgtggttgtataattatttgcttgtatttttat	1247C>T 22026C>T P416L	0.0034 Ca	Exon 11		CYP3A4*13	Lack of expression in vitro and in vivo
AF280107.1 /82266	ttttgctggctatgaaaccacgagcagtgttctctccttcattatgtatgaactggccactcaccctgatgtccagcagaaactgcaggaggaaattgatgcagttttacccaataaggtgagtggatg(G/A)tacatggagaaggagggaggaggtgaaaccttagcaaaaatgcctcctcaccacttcccaggagaatttttataaaaagcataatcactgattctttcactgactctatgtaggaaggctctgaaaagaaaaagaaagaaacatagcaaatggttgctactggcagaagcg	20230G>A	0.0946 Ca	Intron 10 (Exon-flanking Intronic sequence)		CYP3A4*	n/a
AF280107.1 /62080	cagcaaagagcaacacagagctgaaaggaagactcagaggagagagataagtaaggaaagtagtgatggctctcatcccagacttggccatggaaacctggcttctcc(T/C)ggctgtcagcctggtgctcctctatctgtgagtaactgtccaggctcctcttctctgtttccttggacttggggtgctaatcaggcctctctttcccttatctgttttgaagatcaaaaaagatgttcagg	44T>C L15P	n/a	Exon 1		CYP3A4*14	n/a
AF280107.1 /76305	cttctgggactagagtctgcacatttaactatgggtggtgttgtgttttgtgcttagatggtccctatcattgcccagtatggagatgtgttggtgagaaatctgaggc(G/A)ggaagcagagacaggcaagcctgtcaccttgaaaGagtaagtagaagcgcagccatggggttctgagctgtcatgaacccctccagctgcctgccatggagctgatattcctgctgttgggttattccag	485G>A 14269G>A R162E	n/a	Exon 6		CYP3A4*15	n/a
AF280107.1 /77639	ggacatgtgggtttcctgttgcatgcatagaggaaggatggtaaaaaggtgctgattttaattttccacatctttctccactcagcgtctttggggcctacagcatggatgtgatca(C/G)tagcacatcatttggagtgaacatcgactctctcaacaatccacaagacccctttgtggaaaacaccaagaagcttttaagatttgattttttggatccattctttctctcaataagtatgt	554C>G 15603C>G T185S	n/a	Exon 7		CYP3A4*16	n/a
AF280107.1 /77664	gcatgcatagaggaaggatggtaaaaaggtgctgattttaattttccacatctttctccactcagcgtctttggggcctacagcatggatgtgatcactagcacatcatttggagtgaacat(C/T)gactctctcaacaatccacaagacccctttgtggaaaacaccaagaagcttttaagatttgattttttggatccattctttctctcaataagtatgtggactactatttccttttat	682C>T I193I	0.047 AfAm 0 Ca 0 As	Exon 7		CYP3A4*	n/a
DNA polymerase beta (POLB); 8p11.2
AF170802.3 /27532	caaaaatggccttgtgttttacttgattaaaattaagccttaagtttagaacatctttaaacttggtttaaaatgttcattttagggtgtttgccagcttc(C/G)cagtaaaaatgatgaaaaagaatatccacacagaagaattgatatcaggtattgttcagactttgttgctgacctgttaacttttccaaacttgtctcgttttctccc	P242R	0.01 Mix	Exon 12-13			n/a
Dopamine receptor D2 (DRD2); 11q22-q23
AF148806.1 /6091	ttgctggatgggtggtgcctcccgcaacccttggcttctgagtcctcaaaggagaagactggcgagcagacggtgaggacccagcctgcaatcacagctt(A/G)ttactctgggtgtgggtgggagcgcagtgggcggtcgagggttgcgttcccgcctcaaaacaagggatggcggaatcccccaacccctcctacccgttc	-241A>G	0.09 As	5'-flanking region			n/a
AF148806.1 /6191	attactctgggtgtgggtgggagcgcagtgggcggtcgagggttgcgttcccgcctcaaaacaagggatggcggaatcccccaacccctcctacccgttc(cdel)aggccggggatcgccgaggaggtacagctcctttggtggggggcgggggcggggcctgtctcaggggcggggaccggggcacctccctcccgcgctccc	-141C del BstNI	0.1 Ca 0.22 As	5'-flanking region			Decreased activity
AF050737.1 /32806	ccctctaggaaggacatgatgccctgctttcggctgcggagggccagttgcaggggtgtgcagctcactccatcctggacgtccagctgggcgcctgcct(C/T)gaccagcactttgaggatggctgtgttgcccttgagggcggccaggtgggcgggtgtccagcccaccttgttgcgggcgtggacatttgcgtgatgttc	TaqIA	0.16 Ca	3’ flanking sequence			Associated with low dopamine receptor density
AF050737.1 /22316	ttcaacattgagttccgcaaggccttcctgaagatcctccactgctgactctgctgcctgcccgcacagcagcctgcttcccacctccctgcccaggcc(A/G)gccagcctcacccttgcgaaccgtgagcaggaaggcctgggtggatcggcctcctcttcaccccggcaggccctgcagtgttcgcttggctccatgctc	1412A>G HpaII E8(A/G)	0.32 Ca	Exon 8			n/a
AF050737.1 /20229	gagctggagatggagatgctctccagcaccagcccacccgagaggacccggtacagccccatcccacccagccaccaccagctgactctccccgacccgt(C/G)ccaccayggtctccacagcactccygacagccccgccaaaccagagaagaatgggcatgccaaagaccaccccaagattgccaagatctttgagatcca	960C>G S311C	0.02-0.03 Ca 0.15 AmIn	Exon 7			Impairement in its capacity to modulate adenylyl cyclase activity
AF050737.1 /20236	gatggagatgctctccagcaccagcccacccgagaggacccggtacagccccatcccacccagccaccaccagctgactctccccgacccgtCccacca(T/C)ggtctccacagcactccygacagccccgccaaaccagagaagaatgggcatgccaaagaccaccccaagattgccaagatctttgagatccagaccatgc	H313H E7T/C	0.1 As	Exon 7			n/a
AF050737.1 /20254	gcaccagcccacccgagaggacccggtacagccccatcccacccagccaccaccagctgactctccccgacccgtCccaccaCggtctccacagcactcc(C/T)gacagccccgccaaaccagagaagaatgggcatgccaaagaccaccccaagattgccaagatctttgagatccagaccatgcccaatggcaaarcccgga	P319P	0.50 As	Exon 7			n/a
AF050737.1 /7423	ctcttacctggattcctgctacagcctcccagttggtgtcccgcttccactctgggcccctcctctccgttctccacagtgctgtcagaatcacctattc(A/G)aaaggcgaatccgatcatgtggttcctgctgcccttaggatcatgtataaactcctagcatgacttttaaggccctctatgatcttgcctattgcaacc	TaqIB	0.095 Ca	Intron 1			Associated with low dopamine receptor density
AF050737.1 /8467	atgatctggagaggcagaactggagccggcccttcaacgggtcagacgggaaggcggacagaccccactacaactactatgccacactgctcaccctgct(C/T)atcgctgtcatcgtcttcggcaacgtgctggtgtgcatggctgtgtcccgcgagaaggcgctgcagaccaccaccaactacctgatcgtcagcctcgca	L44L	0.011 Ca	Exon 2			n/a
AF050737.1 /16021	ctggtgtgtgcatattgtggagtgaggggtccctgggcctgcaccccagattcagggtcccccgcccttgcaggtacacagctgtggccatgcccatgct(G/A)tacaatacgcgctacagctccaagcgccgggtcaccgtcatgatctccatcgtctgggtcctgtccttcaccatctcctgcccactcctcttcggactc	L141L	0.02 Ca 0 As	Exon 4			n/a
AF050737.1 /20025	cctgcaggggctgccatgggtcctgggtcccatgcctcagtgacatccttgcctccctggcagggtgaccctgtggtgtttgcaggagtcttcagaggg(G/T)gaaagggaggggccagtgagatgggtggctgatgcctgggaacttgtccggctttacccagagccctctgcctctggtgcaggaggctgcccggcgagcc	3208G>T	0.11 Ca	Intron 5			n/a
Dopamine receptor D4 (DRD4); 11p15.5
AC021663.6 /140989	aattctctgctgcgctttgcaagcactttctcttctgcacgtttggaacctaccccggcctgtcgtgtctttctcctggcctcctcgcgagccgaacct(G/A)ctgtccggtcccgggaccccctgcccagggtcagaggggcGcctacctagctcacggtcttgggccggagggaatggaggagggagcggggtcgaccgct	-809G>A	0.29 As	Promoter			n/a
AC021663.6 /141030	tttggaacctaccccggcctgtcgtgtctttctcctggcctcctcgcgagccgaacctActgtccggtcccgggaccccctgcccagggtcagaggggc(G/A)cctacctagctcacggtcttgggccggagggaatggaggagggagcggggtcgaccgctcagctgtccgcccagtttcggaggcggccacgcgaggatca	-768G>A	0.022 As	Promoter			It falls into a negative modulator
AC021663.6 /141182	gaccgctcagctgtccgcccagtttcggaggcggccacgcgaggatcaactgtgcaacgggtggggccgcggctgaccgtggtggtcgcgggggctgag(C/G)gccagaggctgcgGgGggggggcggcgggatgagctaggcgtcggcggttgagtcgggcgcggagtcgggggcagggggagcgggcgtggagggTgcgca	-616C>G	0.28 As	Promoter			It falls into a negative modulator
U95122 /1827	gcggggtcgaccgctcagctgtccgcccagtttcggaggcggccacgcgaggatcaactgtgcaacgggtggggccgcggctgaccgtggtggtcgcgggggctga(Gdel)caccagaggctgctgggggggggcggcgggatgagctaggcgtcggcggttgagtcgggcgcggagtcgggggcagggggagcgggcgtggagggcgcgcacg	-602Gdel	0.42 As	Promoter			n/a
AC021663.6 /141198	gcccagtttcggaggcggccacgcgaggatcaactgtgcaacgggtggggccgcggctgaccgtggtggtcgcgggggctgagGgccagaggctgcgGg(G/C)ggggggcggcgggatgagctaggcgtcggcggttgagtcgggcgcggagtcgggggcagggggagcgggcgtggagggTgcgcacgaggtcgaggcgagt	-600G>C	0.06 As	Promoter			n/a
AC021663.6 /141277	tgagggccagaggctgcggggggggggcggcgggatgagctaggcgtcggcggttgagtcgggcgcggagtcgggggcagggggagcgggcgtggaggg(C/T)gcgcacgaggtcgaggcgagtccgcgggggaggcgggcagagcctgagctcaggtctttctgcgtctggcggaacgggcctgggagggaggttttgccag	-521C>T	0.41 As	Promoter			It falls into a cell-type specific promoter region and it reduces transcriptionnal efficiency
AC021663.6 /141422	gagctcaggtctttctgcgtctggcggaacgggcctgggagggaggttttgccagataccaggtggactagggtgagcgcccgagggccgggacgcacg(C/T)acgggccgggtaggatggcgctggcgtcgatgcccgcgcgcttcagggcctggtctggccgcccctccatccttgtcggtttctCgggtcgcggaccccg	-376C>T	0.097 As	Promoter			Cell-type specific promoter region
AC021663.6 /141507	ggccgggacgcacgCacgggccgggtaggatggcgctggcgtcgatgcccgcgcgcttcagggcctggtctggccgcccctccatccttgtcggtttct(C/T)gggtcgcggaccccgcgcggcgccgggcgatgctggcctgcccgtggccaccacctcgcttcattcccgtctctttgggccgccgcattcgtccacgtgc	-291C>T	0.16 As	Promoter			Cell-type specific promoter region
AC021663.6 /141670	attcccgtctctttgggccgccgcattcgtccacgtgcccgtctctccctgcgcaaaattccaagatgagcaaatactgggctcacggtggagcgccgcg(G/T)gggcccccctgagccggggcgggtcgggggcgggaccagggtccggccggggcgtgcccgaggggagggactccccggcttgcgacccggcgttgtccg	-128G>T	0.025 As	Promoter			Cell-type specific promoter region
AC021663.6 /144323	ctgctgtccgcggcggtggcggcgcccgtactgtgcggcctcaacgacgtgcgcggccgcgaccccgccgtgtgccgcctggaggaccgcgactacgtgg(T/G)ctactcgtccgtgtgctccttcttcctaccctgcccgctcatgctgctgctctactgggccacgttccgcggcctgcagcgctgggaggtggcacgtcg	V194G	0 Ca 12.6 AfAm	Exon 3			It causes a reduced activity towards dopamine and clozapine
AC021663.6 /143784-143910	gtggggaaggggtgtttccctgcccggtcctctggcctctggctcacagccgggcccccttctccgtattcagccctggaactacccataagagtggggg(C/G)gggtcacaagggcccgcggtggctgggaaacctcagggcctgt	(G)n-repeat	Ca: 143bp 0.13 142 bp 0.65 141 bp 0.03 140 bp 0.16 139 bp 0.03	Intron 3			n/a
AC021663.6 /141828	ccgaggggagggactccccggcttgcgacccggcgttgtccgcggtgctcagcgcccgcccgggcgcgccatggggaaccgcagcaccgcggacgcggac(G/C)ggctgctggctgggcgcgggccggccgcgggggcatctgcgggggcatctgcggggctggctgggcagggcgcggcggcgctggtggggggcgtgctgc	G11R HpaII	0.01 Ca	Exon 1			n/a
AC021663.6 /141787	gggcgggtcgggggcgggaccagggtccggccggggcgtgcccgaggggagggactccccggcttgcgacccggcgttgtccgcggtgctcagcgcccgc(C/T)cgggcgcgccatggggaaccgcagcaccgcggacgcggacgggctgctggctgggcgcgggccggccgcgggggcatctgcgggggcatctgcggggct	-11C>T	0.07 Ca	5’ UTR			n/a
AC021663.6 /142032-142044	cggcgcggtgctcgcggggaactcgctcgtgtgcgtgagcgtggccaccgagcgcgccctgcagacgcccaccaactccttcatcgtgagcctggcggccgccgacctcctcctcgctctcctggtgctgccgctcttcgtctactccgaggtgagccgcgtccggccgcacgagcatcctcacctgctcctcggttccc	13bp del	0.023 Ca	Exon 1			No activity
AC021663.6 /141861-141872	cgttgtccgcggtgctcagcgcccgcccgggcgcgccatggggaaccgcagcaccgcggacgcggacgggctgctggctgggcgcgggccggccgcgggggcatctgcgggggcatctgcggggctggctgggcagggcgcggcggcgctggtggggggcgtgctgctcatcggcgcggtgctcgcggggaactcgctcg	12bp repeat. A1=2rep A2=1rep	0.08 Ca	Exon 1			n/a
Epoxide hydrolase 1, microsomal (EPHX1); 1q42.1
AF253417.1 /11177	tggggagtgggggccagtgcctgcagcctgccctgcctctctcacaggcccttagagcatcgccaggtgcagagctccacagctctctttcccaaggagtaatcagagggtgagaac(G/A)tggagcctggtggacaggtgaaagcactgggatctttctgcccagaaaggggaaagttgcacatttatatcctagagggaagcgacagcagtgcttctccctgtgctgaggtacaggtaagg	11177G>A	0.003 Ca	Exon 1			n/a
AF253417.1 /14622	ctgggctttgccatctactggttcatctcccgggacaaagaggaaactttgccacttgaagatgggtggtgggggccaggcacgaggtccgcagccagggaggacgacagcatc(C/T)gccctttcaaggtggaaacgtcagatgaggagatccacgtaaggcaccttgggccgggccgggctgggcagtggagagggtggtgtgtcgaagacaggggttgggtcttaggccagatgcgggag	14622C>T R49C	0.0067 Ca	Exon 2			n/a
AF253417.1 /17540	ggctgcagggtttgctgtgttttctggaaacagactttgctcttgtgctctgtccttcccatccctctcaacttggggtcctgaattttgctccaggacttacaccagaggatcga(T/C)aagttccgtttcaccccacctttggaggacagaagttccgtttcaccccacctttggaggacagctgcttccactatggcttcaactccaactacctgaagaaagtcatctcctactggcgga	17540T>C	0.0277 Ca	Exon 3			n/a
AF253417.1 /17639	accagaggatcgataagttccgtttcaccccacctttggaggacagctgcttccactatggcttcaactccaactacctgaagaaagtcatctcctactggcggaatgaatt(T/C)gactggaagaagcaggtggagattctcaacagacaccctcacttcaagactaagattgaaggtatgtttgcaaaacgccagccagagagggatgtatgtcatgagaacagccttcttccacaatgtg	17639T>C F101F	0.032 Ca	Exon 3			n/a
AF253417.1 /30929	ccctgctgtgcagacggaggggcgcagggccacagcctcacccctccgtcggctctttcacttccaggatgaaggtctatgtgcccactggcttctctgccttcccttttgagcta(T/C)tgcacacgcctgaaaagtgggtgaggttcaagtacccaaagctcatctcctattcctacatggttcgtgggggccactttgcggcctttgaggagccggagctgctcgcccaggacatccgca	30929T>C L406L	0.0073 Ca	Exon 9			n/a
AF253417.1 /31074	tcaagtacccaaagctcatctcctattcctacatggttcgtgggggccactttgcggcctttgaggagccggagctgctcgcccaggacatccgcaagttcctgtcggtgctggagc(G/A)gcaatgacccacccctctccccccgcctgccacctccccccacaagtgccctccaggcttttcttggggaagataccccttttctgaggaatgagtttgcctccgtcccctgcccatgctgg	31074G>A R454Q	0.0073 Ca	Exon 9			n/a
AF253417.1 /17673	ctgcttccactatggcttcaactccaactacctgaagaaagtcatctcctactggcggaatgaatttgactggaagaagcaggtggagattctcaacaga(T/C)accctcacttcaagactaagattgaagggctggacatccacttcatccacgtgaagcccccccagctgcccgcaggccgtaccccgaagcccttgctga	17673T>C Y113H	0.33 Ca	Exon 3			Decreased activity
AF253417.1 /24448	caggtggagattctcaacagataccctcacttcaagactaagattgaagggctggacatccacttcatccacgtgaagcccccccagctgcccgcaggcc(A/G)taccccgaagcccttgctgatggtgcacggctggcccggctctttctacgagttttataagatcatcccactcctgactgaccccaagaaccatggcct	H139R 24448A>G	0.19 Ca	Exon 4			Increased activity
Excision repair cross-complementing rodent repair deficiency, complemen-tation group 1 (ERCC1); 19q13.3
M63796.1 /19886	ctacacagagccttcccactgtggacacctcggcccaggcggcccctcagacctacgccgaatatgccatctcacagcctctggaaggggctggggccac(G/A)tgccccacagggtcagagcccctggcaggagagacgcccaaccaggccctgaaacccggggcaaaatccaacagcatcattgtgagccctcggcaggtg	225G>A 19886G>A T75T	0.01-0.04 US	Exon 3			n/a
M63796.1 /19716	acagcatcattgtgagccctcggcaggtgaggagggagacggagaagtgaggccttgaggttttcagtgggaaacgctgttctagggatgactccagtg(G/C)aaggaggtctgagttccagccactttgttctccccattcattcattcattcattcattcattcgacagcagtgtgtgggttgagagtgccccagctctac	19716G>C	0.40-0.50 US	Intron 3			n/a
M63796.1 /19007	ggaggagggccctgtggttatcaagggtcatccctattgatggcttctgcccttcgtccctccccagaggggcaatcccgtactgaagttcgtgcgcaa(T/C)gtgccctgggaatttggcgacgtaattcccgactatgtgctgggccagagcacctgtgccctgttcctcaggtgagctctgcggcgccaccccagacttc	354T>C 19007T>C N118N	0.46 US	Exon 4			n/a
M63796.1 /17773	agggctttgggggtcttgaagagactgagacctctcaactcccgctccctgcccccaccagcctccgctaccacaacctgcacccagactacatcca(C/T)gggcggctgcagagcctggggaagaacttcgccttgcgggtcctgcttgtccaggtggatgtggtaagcaggggctgctccctagccagcctcaccgggct	17773C>T H154H	0.04 US	Exon 5			n/a
M63796.1 /17677	tccatgggcggctgcagagcctggggaagaacttcgccttgcgggtcctgcttgtccaggtggatgtggtaagcaggggctgctccctagccagcctcac(A/C)gggctttgaggttgtgcagtgggctgttgaatcccttccaagaggaaatgcagctaaaacctcagcgaggaacgtttttcacatctgagatgacatgggt	17677A>C	0.33 US	Intron 5			n/a
M63796.1 /15310	cattcaggctccacctgggattggtccctgctcccccatcccaccctgcccagcccttcccttctccttcctgtgtgggcctggtgcaggcactgcctct(G/C)tctggccttcagtttcctcatctgtaaaacaaggtcttaatttttttttttttttttttgatacagagcctcactctgtcccctaggctgaagtgcagt	15310G>C	0.13 US	Intron 6			n/a
M63796.1 /8092	ccggatgccagagacagtgccccaagaggagatgccagggccgccactgaattcagagtctggggaggaggctcccacaggccgggacaagaagcggaag(C/A)agcagcagcagcagcctgtgtagtctgcccccgggaaactgaggaactaaagaaagctgaaggtgcccacctgggccaccagaaggtgacacccccaga	8092C>A	0.04-0.27 US	3’ UTR			Unkwnown function. It causes Lys^504Gln in the overlapping gene ASE-1/CAST
Gastrin-releasing peptide receptor (GRPR); Xp22.2-p22.13
AC078993.20 /49739	ctggccctggtattcagaataatattatgcaactgatggggatgcttctttcctgccctagatacaaagccattgtccggccaatggatatccaggcctc(C/T)catgccctgatgaagatctgcctcaaagccgcctttatctggatcatctccatgctgctggccattccagaggccgtgttttctgacctccatcccttc	450C>T S151S	0.33 US	Exon 2			n/a
AC078993.20 /49949	gcaccaaccagaccttcattagctgtgccccatacccacactctaatgagcttcaccccaaaatccattctatggcttcctttctggtcttctacgtcat(C/T)ccactgtcgatcatctctgtttactactacttcattgctaaaaatctgatccagagtgcttacaatcttcccgtggaagggaatatacatgtcaagaag	661C>T I221I	0.36 US	Exon 2			n/a
Glutathione S-transferase A2 (GSTA2); 6p12.2
AL109918.25 /142568	tcagttccccaaaacactgaacagcttcacttactttttcaaaggcagggaagtagcgattttttgttttctcttggatcaaggcaagcttggcatcttgttcctcaggttga(C/G)taaagggcagaagaaggatcatttcacccaaatctgctataccttctatataCatatcaatcctgaaagacaaaaacaaccaaatggtcaaatatcttttgccttagattttataggtttataaaa	S111T	n/a	Exon 4			n/a