CBS MUTATION DATABASE

doc.gif (130 bytes) Mutation database
    

List of all CBS mutations

cDNA NT changeGene NT changeProtein changeExon/IntronMutation typeRestriction siteCpG #
833 T>C9122 T>CI278TEX8missBsr I+153
572 C>T6714 C>TT191MEX5missFokI+CG>TG149
919 G>A9208 G>AG307SEX8missAlu I+CG>CA88
1006 C>T9851 C>TR336CEX9missCG>TG; *83
IVS11-2 A>C13217 A>Cdel ex 12IN11delMsp I+25
969 G>A9814 G>AW323XEX9nonsCG>TG20
1330 G>A13325 G>AD444NEX12missTaq I-CG>CA17
374 G>A5873 G>AR125QEX3missPst I+CG>CA14
430 G>A5929 G>AE144KEX3missTaq I-CG>CA12
1058 C>T11664 C>TT353MEX10missCG>TG12
797 G>A8265 G>AR266KEX7miss10
1566delG18220delGfs, stop at aa 540EX16delNciI-10
785 C>T8253 C>TT262MEX7missCG>TG10
341 C>T5840 C>TA114VEX3missMae II+CG>TG10
494 G>A6541 G>AC165YEX4missBsoF I-8
362 G>A5861 G>AR121HEX3missCG>CA; *7
904 G>A9193 G>AE302KEX8missCG>CA6
253 G>A3620 G>AG85REX2missCG>CA6
1039 G>A9884 G>AG347SEX9missCG>CA6
302 T>C3669 T>CL101PEX2miss6
676 G>A6932 G>AA226TEX6missCG>CA5
1321 A>T13316 A>TK441XEX12nons5
457 G>A6504 G>AG153REX4miss5
451 G>A5950 G>AG151REX3missCG>CA5
770 C>T8238 C>TT257MEX7missNla III+CG>TG5
862 G>A9151 G>AA288TEX8missCG>CA5
700 G>A6956 G>AD234NEX6missCG>CA5
959 T>C9804 T>CV320AEX9miss5
373 C>T5872 C>TR125WEX3missAci I -CG>TG5
19insC19insCfs, stop at aa 36EX1ins5
1007 G>A9852 G>AR336HEX9missSph I-CG>CA; *5
IVS1+1G>A210 G>Adel ex1 or 153del57IN1del5
346 G>A5845 G>AG116REX3missCG>CA5
146 C>T146 C>TP49LEX1missDde I+CG>TG5
361 C>T5860 C>TR121CEX3missCG>TG; *5
770 C>T8238 C>TT257MEX7missCG>TG4
1105 C>T11711 C>TR369CEX10missHha I-CG>TG; *4
1111 G>A11717 G>AV371MEX10missCG>CA3
684 C>A6940 C>AN228KEX6miss3
194 A>G194 A>GH65REX1miss3
1013 T>C9858 T>CL338PEX9missPvuI+3
533 del 18n.d.del aa 179-184n.d.del3
1046 G>A11652 G>AS349NEX10miss3
456 C>G6503 C>GI152MEX4missSau3A I-3
1316 G>A13311 G>AR439QEX12missEcoR II+, Msp I-CG>CA3
841 C>T9130 C>TD281NEX8missBamH I-3
325 T>C5824 T>CC109REX3miss3
824 G>A8292 G>AC275YEX7miss3
304 A>C; IVS4-29del1293671 A>C 6643 del29K102Q; del EX5EX2; IVS4missPstI+3
442 G>A5941 G>AG148REX3missMsp I-,BstN I+CG>CA3
463 G>A6510 G>AA155TEX4missSau96 I+3
694 C>G6950 C>GH232DEX6miss3
1136 G>A11742 G>AR379QEX10missCG>CA2
683 A>G6939 A>GN228SEX6miss2
689delT6945delTL230RfsX39EX6delMsp I+2
IVS9+1 G>T9885 G>Tdel ex 9, T318fsX330IN9splicingHphI-2
1081G>A11687 G>AA361TEX10missHha I-CG>CA2
1106 G>A11712 G>AR369HEX10missCG>CA; *2
1060 G>A11666 G>AV354MEX10miss2
862_866del59151_9155del5E289GfsX39EX8del2
1150 A>G12888 A>GK384EEX11miss2
1152 G>C12890 G>CK384NEX11miss2
715 G>A6971 G>AE239KEX6miss2
700_702delGAC6956_6958delGAC234delDEX6del2
691 G>C6947 G>CA231LEX6miss2
IVS5-14_-7del86909_6916del8Y223GfsX23IVS5del2
IVS12-1 G>C13933 G>Cdel exon 13IVS12splicing2
262 C>T3629 C>TP88SEX2missMnl I+2
233 C>G3600 C>GP78REX2miss2
362 G>T5861 G>TR121LEX3miss2
IVS1-1G>C3576 G>C210del26, fs stop at aa 9IN1splicing2
1591del418245del41591delTTCG, fsEX16del2
502 G>A6549 G>AV168MEX4missCG>CA2
IVS 12+1 G>A13554 G>Adel ex 12IN12delSau3A I+2
518delTGA6565_6567delTGAM173delEX4del2
526 G>A6573 G>AE176KEX4missBstX I+CG>CA2
IVS4+1 G>A6579 G>An.d.IVS4splicing2
1226 G>A13221 G>AW409XEX12nonsBsl I-2
28delG28delGfs, stop at aa 81EX1del2
1616 T>C18270 T>CL539SEX16miss2
1367 T>C13942 T>CL456PEX13miss2
1627del1918281del19fs, stop at aa 568EX16delSau96I-2
IVS8+1G>A9244G>Adel ex 8IN8other2
429 C>G5928 C>GI143MEX3missTaqI-CG>GG2
1601 T>A18255 T>AV534DEX16miss1
1590del418244del41590delGTTC, fsEX16del1
1559insACCACAG18213insACCACAGS520R, fs, stop at aa540EX16other1
1063G>C11669G>CA355PEX10miss1
1576 C>A18230 C>AQ526KEX16miss1
1055 G>A11661 G>AS352NEX10miss1
del ex 12, del ex 11 andn.d.del ex 12, del ex 11 andn.d.del-1
1622ins418276ins41622insTGGA, fsEX16ins1
1673del518327del5n.d.EX17splicing1
1471 C>T15304 C>TR491CEX14missBgl II+CG>TG1
1082 T>C11688 T>CA361VEX10miss1
1221delC12959delCW408fsX423EX11del1
IVS11+39del9913000del99n.d.IN11del1
IVS11-89del4913130del49n.d.IN11del1
1170 G>A12908 G>AW390XEX11nons1
1259C>G13254 C>GS420XEX12nons1
1265 C>T13260 C>TP422LEX12missCG>TG1
1146 del 78n.d.del ex 11n.d.other1
IVS10+7 C>T11758 C>Tn.d.IN10splicing1
1286_1288delTCA13281_13283delI429del,fsEX12del1
IVS11+1G>A11752 G>Adel aa382-407IN11other1
1301 C>A13296 C>AT434NEX12miss1
1304T>C13299T>CI435TEX12miss1
1336 G>T13331 G>TA446SEX12miss1
1109 G>A11715 G>AC370YEX10missMae II+1
1126 G>A11732 G>AD376NEX10missCG>CA1
1397C>T13972 C>TS466LEX13missCG>TG1
1173 G>T12911 G>TM391IEX11miss1
103G>A; 129G>A103 G>AD35N; W43XEX1miss1
415 G>A5914 G>AG139REX3missCG>CA1
434 C>T5933 C>TP145LEX3missCG>TG1
442insG5941insGN149fsX187EX3ins1
443 G>A5942 G>AG148EEX3miss1
452del 80n.d.del ex 4n.d.del1
461 T>A6508 T>AL154QEX4missCG>TG1
464C>T6510 C>TA155VEX4miss1
469 G>C6516 G>CA157PEX4miss1
493del226540del22fs,del aa 165-172EX4del1
503 T>C6550 T>CV168AEX4miss1
4886585Y163REX4miss1
393 G>C5892 G>CE131DEX3miss1
384 G>C5883 G>CE128DEX3missMul I-,Fok I-1
del bp 153-209n.d.del aa 52-70n.d.del-1
172 C>T172 C>TR58WEX1missCG>TG1
194 A>C194 A>CH65REX1miss1
IVS1+1insC210insCdel ex 1 (?)IN1ins1
G253 delG253delfsEX2del1
260 C>A3627 C>AT87NEX2missMslI-1
306 G>C3673 G>CK102NEX2miss1
313 C>G3680 C>G313del4, fsEX2del1
374 G>A5873 G>AR125QEX3missPst I+CG>CA1
374 G>C5873 G>CR125PEX3missHpa II+CG>CC1
376 A>G5875 A>GM126VEX3miss1
IVS4-38del7966636_7431del796V178GfsX23IVS4-6del1
IVS4-31del 296643del29del ex 5IN4del1
796A>G8264 A>GR266GEX7missBstN I-1
808del38276del3del E270EX7del1
IVS7+1 G>A8297 G>A828ins104, 737del92IN7splicing1
833 T>G9122 T>CI278SEX8missTspR I+1
869 C>T9158 C>TP290LEX8missAlu I+CG>TG1
892insC9181insCQ298fsX329EX8ins1
913 G>A9202 G>AG305REX8miss1
593 A>T6735 A>TD198VEX5miss1
955del85n.d.del ex 9n.d.other1
962 A>T9807 A>TD321VEX9missHpy8 I-1
992 C>A9837 C>AA331EEX9missHinf I+1
785 C>G8253 C>GT262REX7missCG>GG1
775 G>A8243 G>AG259SEX7missCG>CA1
539 T>C6681 T>CV180AEX5miss1
599 C>T6741 C>TP200LEX5missMsp I-1
650 C>T6792 C>TS217FEX6miss1
671 G>A6927 G>AR224HEX6missCG>CA1
684 C>G6940 C>GN228KEX6miss1
727 C>T6983 C>TQ243XEX6nonsFnu4HI-1
IVS6-1 G>C8204 G>Cn.d.IN6splicing1
739del 30n.d.del aa 247-256n.d.del1
740del258208del25del aa 247-255EX7del1
361 C>A5680 C>AR121SEX3miss1
775 G>A8243 G>AG259DEX7missCG>CA1
992 C>T9837 C>TA331VEX9missCG>TG1

Retrieved from the database: 24/04/2014, 08:41 AM


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