A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease

Hamby, Stephen E; Thomas, Nick ST; Cooper, David N; Chuzhanova, Nadia

doi:10.1186/1479-7364-5-4-241

Human Genomics

Table S1 Nonstop mutations recorded in the Human Gene Mutation Database

From: A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease

Entrez Gene ID	*Gene*	Base change	Amino acid change	Codon	Chromosome	*Gene*	Ref_Seq mRNA Acc Num (Longest)		CDS	Next STOP codon	polyA signals *AATAAA ATTAAA*	Flanking nucleotide sequence Terminal amino-acids
							Transcript size	Number of Exons
58	ACTA1	cTAG-CAG	Term-Gln	376	1q42.13	ACTA1	NM_001100.3	1509 bp 7 exons	106-1239 TAG	1378-1380 *TAA*	1465..1470 ATTAAA	tcgtccaccgcaaatgcttctagcacactccacctccagcacg tgc ttc tag = C F *
58	ACTA1	TAG-TGG	Term-Trp
58	ACTA1	TAGa-TAT	Term-Tyr
326	AIRE	TGAc-TGT	Term-Cys	546	21q22.3	AIRE	NM_000383.2	2257 bp 15 exons	128-1765 TGA	1943-1945 *TAA*	1941..1946 ATTAAA	cggcggcccccttcccctcctgaccccagatggccgggacatg ccc tcc tga = P S *
336	APOA2	gTGA-AGA	Term-Arg	78	1q21-q23	APOA2	NM_001643.1	473 bp 4 exons	59-361 TGA	422-424 *TAA*	454..459 AATAAA	gaacacagcctgccacccagtgaagtgtccagaccattgtctt acc cag tga = T Q *
336	APOA2	gTGA-CGA	Term-Arg
336	APOA2	gTGA-GGA	Term-Gly
336	APOA2	TGA-TCA	Term-Ser
353	APRT	TGA-CGA	Term-Arg	181	16q24	APRT	NM_000485.2	807 bp 5 exons	36-578 TGA	790-792 *TAA*	Not Identified	tctctctcctgcagtatgagtgaccacagggcctcccagccca tat gag tga = Y E *
353	APRT	TGA-TCA	Term-Ser
411	ARSB	gTAG-CAG	Term-Gln	534	5q11-q13	ARSB	NM_000046.2	6076 bp 9 exons	1287-2888 TAG	3036-3038 *TAA*	3485..3490 AATAAA 4564-4569 AATAAA 5804-5809 AATAAA 6039..6044 AATAAA 6043..6048 AATAAA	gggtgtggggcccttggatgtaggatttcagggaggctagaaa tgg atg tag = W M *
435	ASL	TAGg-TAC	Term-Tyr	465	7cen-q11.2	ASL	NM_000048.3	1937 bp 16 exons	112-1506 TAG	1654-1656 *TAA*	1528-1533 AATAAA 1752-1757 AATAAA 1913-1918 AATAAA 1921-1926 AATAAA 1932-1937 AATAAA	tactgcaggcacagcaggcctaggtcctcccacacctgccccc cag gcc tag = Q A *
443	ASPA	TAG-TGG	Term-Trp	314	17pter-p13	ASPA	NM_000049.2	1435 bp 6 exons	159-1100 TAG	1233-1235 *TAA*	1364-1369 AATAAA	gtattcgctgctgtttacattagaaatcacttccagcttacat tta cat tag = L H *
472	ATM	gTGA-GGA	Term-Gly	3057	11q22-q23	ATM	NM_000051.3	13147 bp 63 exons	386-9556 TGA	9641-9643 *TAG*	10215-10220 ATTAAA 10514-10519 ATTAAA 13129-13134 AATAAA	caggatggaaagcttgggtgtgatcttcagtatatgaattacc tgg gtg tga = W Y *
472	ATM	TGA-TCA	Term-Ser
477	ATP1A2	cTGA-CGA	Term-Arg	1021	1q21-q23	ATP1A2	NM_000702.2	5496 bp 23 exons	133-3195 TGA	3277-3280 *TAA*	5195-5200 AATAAA 5434..5439 AATAAA	tggagaaggagacatactactgaccccattggaagaagaacca tac tac tga = Y Y *
50617	ATP6V0A4	gTAG-CAG	Term-Gln	841	7q33-q34	ATP6V0A4	NM_020632.2	3152 bp 23 exons	284-2806 TAG	2963-2965 *TGA*	3039-3044 AATAAA 3116-3121 AATAAA	tggatggcacagccgaggagtaggctgagggctgcacctccca gag gag tag = E E *
540	ATP7B	cTGA-CGA	Term-Arg	1466	13q14.3	ATP7B	NM_000053.2	6644 bp 21 exons	158-4555 TGA	4556-4558 *TGA*	3788-3793 ATTAAA 4831-4836 ATTAAA 4892-4897 AATAAA	gggatgaggagcagtacatctgatgacttcaggcaggcgggcc tac atc tga = Y I *
166379	BBS12	TAGt-TAC	Term-Tyr	711	4q27	BBS12	NM_152618.2	3260 bp 2 exons	194-2326 TAG	2375-2377 *TAA*	2379-2384 AATAAA 3220-3225 AATAAA	taacgggctttctatttttgtagtgttactggctaagtctttg ttt ttg tag = T L *
120329	CASP12	gTGA-CGA	Term-Arg	125	11q22.3	CASP12	AY358222.1		3-1057 TAA	1064-1066 *TAA*	1227..1232 AATAAA	ctatctctttcctgggaattaaactcataagaagcaactca ggg aat taa = G N
846	CASR	aTAA-CAA	Term-Gln	1079	3q13	CASR	NM_000388.2	??bp ? exons	439-3609 TAA	3631-3633 *TAG*	5831-5836 ATTAAA 6126-6131 AATAAA 6615..6620 AATAAA	agaaaacgtagtgaattcataaaatggaaggagaagactg aat tca taa = N S *
1027	CDKN1B	gTAA-CAA	Term-Gln	199	12p13.1-p12	CDKN1B	NM_004064.2	2422 bp 3 exons	466-1062 TAA	1240-1242 *TGA*	1836-1841 ATTAAA 1948-1953 ATTAAA 2382-2387 AATAAA	ctcagaagacgtcaaacgtaaacagctcgaattaagaatatg caa acg taa = Q T *
120329	CFTR	TAG-TGG	Term-Trp	1481	7q31.2	CFTR	NM_000492.3	6132 bp 27 exons	133-4575 TAG	4585-4587 *TAA*	6108..6113 AATAAA	aggtgcaagatacaaggctttagagagcagcataaatgttgac agg ctt tag = R L *
1080	COL1A2	aTAA-CAA	Term-Gln	1277	7q22.1	COL1A2	NM_000089.3	5411 bp 52 exons	472-4572 TAA	4585-4587 *TAA*	4848-4853 AATAAA 4861-4866 AATAAA 5357-5362 AATAAA 5378..5383 AATAAA	ttggcccagtctgtttcaaataaatgaactcaatctaaattaa ttc aaa taa = F K *
1378	CRYBB1	gTGA-CGA	Term-Arg	253	22q12.1	CRYBB1	NM_001887.3	921 bp 6 exons	71-829 TGA	905..907 *TAA*	903..908 AATAAA	tggccacagagccccccaagtgagtccacacctcactctgcta ccc aag tga = P K *
1414	CRYM	TAAa-TAT	Term-Tyr	315	16p13.11-p12.3	CRYM	NM_001888.2	1303 bp 9 exons	86-1030 TAA	1043-1045 *TGA*	1267..1272 AATAAA	attcctggtcatctggtaaataaaacaaaggaacttgatgttg ggt aaa taa = G K *
1428	CTSK	TGAc-TGG	Term-Trp	330	1q21	CTSK	NM_000396.2	1702 bp 8 exons	125-1114 TGA	1169-1171 *TAA*	1650-1655 AATAAA 1680-1685 AATAAA	tggccagcttccccaagatgtgactccagccagccaaatccat aag atg tga = K M *
1513	CYP2C19	TGAa-TGC	Term-Cys	491	10q24.1-q24.3	CYP2C19	NM_000769.1	1473 bp 9 exons	1-1473 TGA	1549-1551 *TGA*	1617-1622 ATTAAA 1733-1738 ATTAAA	agctgtgcttcattcctgtctgaagaagcacagatggtctggc cct gtc tga = P V *
1557	DBT	TGA-TTA	Term-Leu	422	1p31	DBT	NM_001918.2	10831 bp 11 exons	34-1482 TGA	1501-1503 *TGA*	Multiple polyA sites 10794-10799 AATAAA	ttatgctactagatctgaaatgaagactgataagacattcttg ctg aaa tga = L K *
1629	DHCR7	cTAA-CAA	Term-Gln	476	11q13.2-q13.5	DHCR7	NM_001360.2	2665 bp 8 exons	274-1701 TAA	1852-1854 *TAA*	2099-2105 AATAAA 2642-2648 ATTAAA	gcctgctgcctggaatcttctaagggcacgccctagggagaag atc ttc taa = I F *
1717	DOK7	tTGA-CGA	Term-Arg	505	4p16.2	DOK7	NM_173660.3	2566 bp 7 exons	71-1585 TGA	2130-2132 *TGA*	2547-2553 AATAAA	tcaaggtaaacccccctccttgagagccgcagatcccgccccg cct cct tga = P P *
285489	EDA	cTAG-CAG	Term-Gln	392	Xq12	EDA	NM_001399.4	5296 bp 10 exons	243-1418 TAG	1503-1505 *TGA*	5251-5256 AATAAA	tgggtgaagcccctgcatcctagattccccccattttgcctct gca tcc tag = A S *
2110	ETFDH	gTAA-CAA	Term-Gln	618	4q32-q35	ETFDH	NM_004453.2	2349 bp 13 exons	333-2186 TAA	2223-2225 *TAA*	2307-2312 AATAAA	acctgcttacaatggaatgtaaactgcagctagccagtttct gga atg taa = G M *
1896	EYA1	TAAc-TAC	Term-Tyr	593	8q13.3	EYA1	NM_000503.3	4326 bp 18 exons	641-2419 TAA	2435-2437 *TGA*	3014-3020 ATTAAA 3585-3591 AATAAA 3849-3855 AATAAA 4299-4304 AATAAA	ccttggaactggagtacctgtaacagcgctcggcactttgaca tac ctg taa = Y L *
2138	F8	cTGA-CGA	Term-Arg	2333	Xq28	F8	NM_000132.2	9030 bp 27 exons	172-7227 TGA	7327-7329 *TAG*	7637-7643 AATAAA 8004-8010 AATAAA 8048-8054 AATAAA 9010-9015 AATAAA	gcgaggcacaggacctctactgagggtggccactgcagcacct ctc tac tga = L Y *
2157	FGB	aTAG-AAG	Term-Lys	462	4q28	FGB	NM_005141.2	1949 bp 8 exons	26-1501 TAG	1535-1537 *TGA*	1649-1655 AATAAA 1913-1918 AATAAA	ggcccttcttcccacagcaatagtccccaatacgtagattttt cag caa tag = Q Q *
2244	FGFR3	gTGA-AGA	Term-Arg	807	4p16.3	FGFR3	NM_000142.2	4093 bp 18 exons	40-2460 TGA	2759-2761 *TAA*	4238-4243 AATAAA	gcagtgggggctcgcggacgtgaagggccactggtccccaaca cgg acg tga = R T *
2261	FGFR3	gTGA-GGA	Term-Gly
2261	FGFR3	TGA-TCA	Term-Ser
2261	FGFR3	TGA-TTA	Term-Leu
2261	FGFR3	TGAa-TGC	Term-Cys
2261	FGFR3	TGAa-TGG	Term-Trp
2261	FGFR3	TGAa-TGT	Term-Cys
2273	FHL1	gTAA-GAA	Term-Glu	281	Xq26	FHL1	NM_001449.3	2398 bp 8 exons	209-1051 TAA	1205-1207 *TAA*	2360..2365 AATAAA	cactgcaaaaaatgctccgtgaatctggccaacaagcgcttt gct ccg tga = A P *
2261	FKRP	cTGA-AGA	Term-Arg	496	19q13.32	FKRP	NM_024301.3	3349 bp 4 exons	2980-1785 TGA	1846-1848 *TGA*	2489-2494 AATAAA 2540-2545 AATAAA	tgagtctgacgggaagcggctgaagccctgataacctcgcctt agc ggc tga = S G *
79147	FMO2	tTAG-CAG	Term-Gln	472	1q23-q25	FMO2	NM_001460.2	5181 bp 10 exons	118-1533 TAG	1723-1725 *TAG*	Multiple polyA sites ?????? AATAAA	tcggaccctgcaactcctattagtatcgcctggttgggcctgg tcc tat tag = S Y *
2301	FOXE3	gTGA-CGA	Term-Arg	320	1p32	FOXE3	NM_012186.2	2000 bp SINGLE Exon	245-1204 TGA	1418-1420 *TGA*	1939-1944 ATTAAA 1954-1959 ATTAAA	cggggctggagcgctacctgtgagcctgcgccgcgcgggcag tac ctg tga = Y L
2301	FOXE3	TGA-TCA	Term-Ser
2294	FOXF1	gTGA-CGA	Term-Arg	380	16q24	FOXF1	NM_001451.2	2579 bp 3 exons	44-1183 TGA	1400-1402 *TAG*	3218-3223 AATAAA 3301-3306 AATAAA	acatcaagccttgcgtgatgtgaggctgccgccgcaggccct gtg atg tga = V M *
2327	FOXH1	gTGA-CGA	Term-Arg	366	8q24.3	FOXH1	NM_003923.1	1793 bp 3 exons	580-1677 TGA	1684-1686 *TAA*	Not found	tgctctcctggtgcagcctgtgaggctcttaagacaggggcca agc ctg tga = S L *
8928	FUCA1	gTAA-AAA	Term-Lys	462	1p34	FUCA1	NM_000147.3	2095 bp 8 exons	46-1446 TAA	1681-1683 *TGA*	1575-1581 ATTAAA 2044-2049 AATAAA	taaagctgacaggagtgaagtaatcatttgagtgcaagaagaa gtg aag taa = V K *
2517	GALT	cTGA-CGA	Term-Arg	380	9p13	GALT	NM_000155.2	1347 bp 11 exons	68-1207 TGA	1352-1354 *TAA*	1315-1320 AATAAA	gggagacagcaaccatcgcctgaccacgccgaccacagggcct atc gcc tga = I A *
2592	GALT	TGAc-TGC	Term-Cys
2623	GATA1	aTGA-CGA	Term-Arg	414	Xp11.23	GATA1	NM_002049.2	1522 bp 6 exons	113-1354 TGA	1475-1477 *TAA*	1478-1484 AATAAA	gtggctccgctcagctcatgagggcacagagcatggcct agc tca tga = S S *
2592	GCDH	TGAg-TGG	Term-Trp	439	19p13.2	GCDH	NM_000159.2	1839 bp 12 exons	78-1394 TGA	1473-1475 *TGA*	1802..1807 AATAAA	aggcgttcacggccagcaagtgagccgctccatcaggggcccg agc aag tga = S K *
2639	GCH1	cTGA-CGA	Term-Arg	251	14q22.1-q22.2	GCH1	NM_000161.2	2941 bp 6 exons	162-914 TGA	1017-1019 *TGA*	Multiple polyA sites 2896-2901 ATTAAA	tcctgactctcattaggagctgagcttcattcagtgtgtgtgc agg agc tga = R S *
2645	GCK	gTGA-CGA	Term-Arg	466	7p15.3-p15.1	GCK	NM_000162.2	2759 bp 10 exons	487-1884 TGA	2314-2316 *TGA*	2724-2729 ATTAAA	aggcctgtatgctgggccagtgagagcagtggccgcaagcgcag ggc cag tga = G Q *
2645	GCK	TGA-TTA	Term-Leu
55806	HR	cTAG-CAG	Term-Gln	35	8p21.2	HR	NM_005144.3	4981 bp 19 exons	131-3700 TAG	4151-4153 *TGA*	4311-4316 ATTAAA 4952-4957 ATTAAA 4956-4961 AATAAA	caggaggccaaatagagggatgctaggtg gcc aaa tag = A K *
	HR	TAG-TGG	Term-Trp
2643	HBA2	TAAg-TAT	Term-Tyr	142	16p13.3	HBA2	NM_000517.3	575 bp 3 exons	38-466 TAA	557-559 *TAA*	555-560 AATAAA	tgctgacctccaaataccgttaagctggagcctcggtagccgt tac cgt taa = Y R *
3040	HBA2	tTAA-AAA	Term-Lys
3040	HBA2	tTAA-CAA	Term-Gln
3040	HBA2	tTAA-GAA	Term-Glu
3040	HBA2	tTAA-TCA	Term-Ser
3081	HGD	tTGA-CGA	Term-Arg	446	3q13.33	HGD	NM_000187.2	1920 bp 14 exons	371-1708 TGA	1778-1780 *TAG*	1892..1898 AATAAA	ccagcagaacctaattgagactggaacattgctaccataa cct aat tga = P N *
3284	HSD3B2	TGAt-TGC	Term-Cys	373	1p13.1	HSD3B2	NM_000198.2	1669 bp 4 exons	143-1261 TGA	1544-1546 *TGA*	1649..1654 AATAAA	ccctgaagtccaagactcagtgatttaaggatgacagagatgt act cag tga = T Q *
3425	IDUA	aTGA-GGA	Term-Gly	654	4p16.3	IDUA	NM_000203.3	2203 bp 14 exons	89-2050 TGA	2231-2233 *TGA*	2145-2150 AATATA	ccccatccccgggcaatccatgagcctgtgctgagccccagtg aat cca tga = N P *
3425	IDUA	TGAg-TGT	Term-Cys
8517	IKBKG	TAG-TGG	Term-Trp	420	Xq28	IKBKG	NM_001099856.1	2073 bp 10 exons	225-1483 TAG	1563-1565 *TAG*	2049-2054 AGTAAA	atgtcatggagtgcattgagtagggccggccagtgcaaggcca att gag tag = I E *
9445	ITM2B	tTGA-AGA	Term-Arg	267	13q14.3	ITM2B	NM_021999.3	1870 bp 6 exons	1874-987 TGA	1018-1020 *TAA*	1131-1136 ATTAAA 1440-1445 ATTAAA 1664-1669 AATAAA 1785-1790 AATAAA 1834-1839 ATTAAA	tggaaactttaatttgttcttgaacagtcaagaaaaacattat tgt tct tga = C K *
169522	KCNV2	tTAG-TAT	Term-Tyr	546	9p24.2	KCNV2	NM_133497.2	1882 bp 2 exons	215-1852 TAG	2031-2033 *TAG*	2142-2147 AATAAA	tcaccccaagacaagagaattagtattttataggacatgtggc gag aat tag = E N *
169522	KCNV2	tTAG-CAG	Term-Gln
84634	KISS1R	cTGA-AGA	Term-Arg	399	19p13.3	KISS1R	NM_032551.4	1607 bp 5 exons	146-1342 TGA	1839-1841 *TAA*	1554-1559 ATTAAA	gggaggacaacgcccctctctgagcggacccggtgggaatccg cct ctc tga = P L *
3914	LAMB3	TGAt-TGG	Term-Trp	1173	1q32	LAMB3	NM_000228.2	4093 bp 23 exons	145-3663 TGA	3829-3831 *TGA*	4008-4013 AATGAA 4020-4025 AATAAA	tctactatgccacctgcaagtgatgctacagcttccagcccgt tgc aag tga = C K *
9388	LIPG	cTGA-CGA	Term-Arg	501	18q21.1	LIPG	NM_006033.2	4143 bp ? exons	253-1755 TGA	1900-1902 *TGA*	4094-4099 ATTAAA 4118-4123 AATAAA	actgtggagcttccctgagggtgcccgggcaagtcttg ctt ccc tga = L P *
4143	MAT1A	TAGa-TAT	Term-Tyr	396	10q22	MAT1A	NM_000429.2	3419 bp 9 exons	256-1443 TAG	1645-1647 *TAA*	3382-3387 AATAAA	ttcccaggaagcttgtattttagagccagggggagctgggcct gta ttt tag = V F *
4159	MC3R	TAG-TCG	Term-Ser	361	20q13.2-q13.3	MC3R	NM_019888.2	1112 bp 1 exon	1-1083 TAG	1102-1104 *TGA*	Not found	gcaacggcatgaacttgggataggatgcagggccatggaaatg ttg gga tag = L G *
64087	MCCC2	gTAA-CAA	Term-Gln	564	5q12-q13	MCCC2	NM_022132.3	2329 bp 17 exons	100-1791 TAA	17987-1800 *TAA*	1796-1801 AATAAA	acttcggtatcttcaggatgtaactggaataaaggatgttttc agg atg taa = R M *
5080	MECP2	cTGA-TGG	Term-Trp	487	Xq28	MECP2	NM_004992.2	10241 bp 4 exons	227-1687 TGA	1766-1768 *TGA*	1790-1795 AATAAA 7191-7196 TATAAA 7300-7305 AATAAA 9490-9495 AATAAA	ccgtgaccgagagagttagctgactttacacggagcggattgc gtt agc tga = V S *
5080	MECP2	cTGA-CGA	Term-Arg
5080	MECP2	cTGA-TTA	Term-Leu
5080	MECP2	cTGA-TGC	Term-Cys
4338	MOCS2	TAAt-TAC	Term-Tyr	189	5q11	MOCS2	NM_004531.3	1347 bp 8 exons	40-793 TAA	845-847 *TGA*	1238-1243 ATTAAA 1289-1294 ATTAAA 1299-1304 AATAAA	gcttttgggcatccaacagttaatcacttatgtttttagagca aac agt taa = N S *
4524	MTHFR	TGA-TCA	Term-Ser	657	1p36.3	MTHFR	NM_005957.3	7105 bp 12 exons	185-2155 TGA	2303-2305 *TGA*	3833-3838 ?????? 7086-7091 AATAAA	cgagagaaacggaggctccatgaccctgcgtcctgacgccctg gct cca tga = A P *
55651	NHP2	aTGA-AGA	Term-Arg	154	5q35.3	NHP2	NM_017838.3	867 bp 4 exons	144-605 TGA	756-758 *TGA*	802-805 ACTAAA 836-841 AGTAAA	agtccctgcccctacccctatgaggggctccggtagcacctgg ccc cta tga = P L *
4878	NPPA	cTGA-CGA	Term-Arg	152	1p36.21	NPPA	NM_006172.2	840 bp 3 exons	95-550 TGA	554-556 *TAA*	768-773 ATTAAA 819-824 AATAAA	ctgtgttctctttgcagtactgaagataacagccagggaggac cag tac tga = Q Y *
190	NR0B1	aTAA-GAA	Term-Glu	471	Xp21.3-p21.2	NR0B1	NM_000475.3	1555 bp 2 exons	13-1424 TAA	1447-1479 *TAA*	1475-1480 AA TAAA 1514-1519 AATAAA	aaatgctctgtacaaagatataaagtcatgtgggccacacaag aag ata taa = K I *
4939	OAS2	TAG-TGG	Term-Trp	720	12q24.2	OAS2	NM_016817.2	3539 bp 11 exons	141-2300 TAG	2322-2324 *TAA*	3015-3020 AATAAA 3340-3345 AATAAA 3513-3518 AATAAA	ataattctaaaagaaacttctagagatcatctggcaatcgctt aac ttc tag = N F *
4976	OPA1	TAAa-TAC	Term-Tyr	961	3q28-q29	OPA1	NM_015560.1	5864 bp 31 exons	56-2938 TGA	2975-29771 *TGA*	3046-3051 AATAAA	aagctcttcatcaggagaaataaattaagtgagtaaaaattct gag aaa taa = E K *
5009	OTC	TGAt-TGG	Term-Trp	355	Xp21.1	OTC	NM_000531.4	1647 bp 10 exons	215..1279 TGA	1319-1321 *TAA*	1365-1370 AATAAA 1622-1627 AATAAA	agctccagaagcctaaattttgatgttgtgttacttgtcaaga aaa ttt tga = K F *
5080	PAX6	TAA-TTA	Term-Leu	423	11p13	PAX6	NM_000280.2	2816 bp 15 exons	513-1781 TAA	1821-1823 *TAA*	2269-2274 ATTAAA 2495-2500 AATAAA	aatactggccaagattacagtaa aaaaaaaaaaaaaaaaaaaaaggaaaggaaa tta cag taa = L Q *
5080	PAX6	TAA-TAT	Term-Tyr
5189	PEX1	aTAA-CAA	Term-Gln	1284	7q21.2	PEX1	NM_000466.2	4390 bp 24 exons	97-3948 TAA	4030-4032 *TGA*	4261-4266 AATAAA 4356-4361 AATAAA	gacagaaagtaactttagcataaaatatacttctttttgattt tta gca taa = L A *
8929	PHOX2B	TGAt-TGG	Term-Trp	315	4p12	PHOX2B	NM_003924.2	3033 bp 3 exons	361-1305 TGA	1426-1428 *TGA*	1452-1457 AATAAA 1766-1771 AATAAA 1798-1803 ATTAAA 1861-1866 ATTAAA	tagtgaagagcagtatgttctgatctggaatcctgcggcggcg atg ttc tga = M F *
8929	PHOX2B	TGAt-TGC	Term-Cys
55163	PNPO	tTAA-CAA	Term-Gln	262	17q21.32	PNPO	NM_018129.2	3482 bp 7 exons	154-939 TAA	1021-1023 *TAA*	1405-1410 ATTAAA 2412-2417 ATTAAA 3438-3443 AATAAA	tctatgagagacttgcaccttaactctgggacctgctggccca gca cct taa = A P *
5627	PROS1	TAAg-TAT	Term-Tyr	636	3q11.2	PROS1	NM_000313.1	3309 bp 15 exons	147-2177 TAA	2217-2219 *TAA*	2636-2641 ATTAAA 2735-2740 ATTAAA 3289-3294 AATAAA	ggaaaaagacaaagaattcttaaggcatcttttctctgcttat aat tct taa = N A *
10594	PRPF8	cTGA-CGA	Term-Arg	2336	17p13.3	PRPF8	NM_006445.3	7311 bp 43 exons	115-7122 TGA	7243-7245 *TGA*	7261-7266 AATAAA 7274-7279 AATAAA	atcgggaggacctgtatgcctgaccgtttccctgcctcctgct tat gcc tga = Y A *
5744	PTHLH	TGAa-TGG	Term-Trp	178	12p12.1-p11.2	PTHLH	NM_198965.1	1331 bp 5 exons	323-856 TGA	1013-1015 *TGA*	1304-1309 AATAAA	ttcacggaggcattgaaattttcagcagagaccttc agg cat tga = R H
10111	RAD50	TAAa-TAT	Term-Tyr	1313	5q31	RAD50	NM_005732.2	5891 bp 25 exons	388-4326 TAA	4522-4524 *TGA*	5836-5841 AATAAA	tgggattcaatgttcattaaaaatatccaagatttaaatg gtt cat taa = V H *
6066	RHCE	TAAg-TAC	Term-Tyr	418	1p36.11	RHCE	NM_020485.3	1635 bp 9 exons	87-1340 TAA	1416-1418 *TGA*	1482-1487 ATTAAA 1490-1495 ATTAAA 1536-1541 AATAAA 1596-1601 ATTAAA	atttggctgttggattttaagcaaaagcatccaagaaaaa gga ttt taa = G F *
6010	RHO	cTAA-CAA	Term-Gln	349	3q21-q24	RHO	NM_000539.2	2768 bp 5 exons	96-1142 TAA	1293-1295 *TAA*	1239-1244 AATGAA 1506-1511 AATAAA 1659-1664 TATAAA 2563-2568 ATTAAA	cgagccaggtggccccggcctaagacctgcctaggactctgtg ccg gcc taa = P A *
6010	RHO	cTAA-GAA	Term-Glu
860	RUNX2	TGA-TCA	Term-Ser	522	6p21	RUNX2	NM_001024630.2	5572 bp 9 exons	7-1776 TGA	1853-1855 *TAG*	2761-2666 ATTAAA 3073-3078 ATTAAA 3892-3897 AATAAA 4183-4188 ATTAAA 4448-4453 ATTAAA 4591-4596 ATTAAA	aatctgtttggcgaccatattgaaattcctcagcagtggccca cca tat tga = P Y
710	SERPING1	cTGA-AGA	Term-Arg	479	11q12-q13.1	SERPING1	NM_000062.2	1984 bp 8 exons	192-1694 TGA	1830-1832 *TGA*	1940-1945 AATAAA	gagtatatgaccccagggcctgagacctgcaggatcaggttag agg gcc tga = R A *
4068	SH2D1A	aTGA-AGA	Term-Arg	129	Xq25-q26	SH2D1A	NM_002351.2	2507 bp 4 exons	346-732 TGA	766-768 *TAA*	738-743 AATAAA 1036-1041 AATAAA	atgtctgcctgaaagccccatgaagaaaaataaaacaccttgt gcc cca tga = A P *
6473	SHOX	cTGA-CGA	Term-Arg	293	Xp22.33	SHOXa	NM_000451.3	3757 bp 6 exons	692-1570 TGA	1712-1715 *TAG*	2486-2491 ATTAAA	gcggaggccctggggctctgacccgccgcgcagccc ggg ctc tga = G L *
6473	SHOX	aTGA-CGA	Term-Arg	226		SHOXb	NM_006883.2	1951 bp 6 exons	692-1369 TGA	1433-1436 *TAG*	Not found
5172	SLC26A4	TGAa-TGG	Term-Trp	781	7q31	SLC26A4	NM_000441.1	4930 bp 21 exons	225-2567 TGA	2691-2693 *TAA*	2719-2724 AATAAA 3014-3019 AATAAA 3038-3043 AATAAA 3066-3071 AATAAA 3229-3234 AATAAA	ctatgcgtacacttgcatcctgaaagtgggttcgggaggtctc gca tcc tga = A S *
54977	SLC25A38	cTGA-CGA	Term-Arg	305	3p22.1	SLC25A38	NM_017875.2	2124 bp 7 exons	402-1316 TGA	1398-1400 *TAA*	1897-1902 AATAAA 1965-1670 ATTAAA 2092-2097 AATAAA	gggcctgaagtcctgaccaagagaggactgg aag tcc tga = K S *
6663	SOX10	cTAA-TAC	Term-Tyr	467	22q13.1	SOX10	NM_006941.3	2882 bp 4 exons	279-1679 TAA	1935-1937 *TGA*	2840-2845 AATAAA 2846-2851 ATTAAA	atacgacactgtcccggccctaaagggggccctgtcgccacca cgg ccc taa = R P *
6663	SOX10	cTAA-AAA	Term-Lys
6716	SRD5A2	TAA-TCA	Term-Ser	255	2p23	SRD5A2	NM_000348.3	2446 bp 5 exons	72..836 TAA	918-920 *TAA*	846-851 ATTAAA 1235-1240 ATTAAA 2426-2431 ATTAAA	cccttattccattcatcttttaaaggaaccaaattaaaaagga atc ttt taa = I F *
7170	TPM3	TAA-TCA	Term-Ser	286	1q21.2	TPM3	NM_152263.2	7116 bp 12 exons	116-973 TAA	1142-1144 *TAA*	1140-1145 ATTAAA 1414-1419 ATTAAA 1894-1899 ATTAAA	tccttactttttcatacagataattatcaccgtttctgctctg tac aga taa = Y R *
7454	WAS	cTGA-AGA	Term-Arg	503	Xp11.4-p11.21	WAS	NM_000377.1	1806 bp 12 exons	35-1543 TGA	1805-1807 *TAA*	1777-1782 AATAAA	aagatgatgaatgggatgactgagtggctgagttacttgctgc gat gac tga = D D *
7454	WAS	cTGA-CGA	Term-Arg
7454	WAS	TGA-TCA	Term-Ser
7490	WT1	TGAg-TGG	Term-Trp	450	11p13	WT1	NM_024424.2	3020 bp 10 exons	197-1741 TGA	1805-1807 *TGA*	2206-2211 AATAAA 3002-3007 ATTAAA	ccaaactccagctggcgctttgaggggtctccctcggggaccg gcg ctt tga = A L *

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ISSN: 1479-7364

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