CBS MUTATION DATABASE
Mutation database|
CBS MUTATION DATABASE |
|
Mutation database |
| cDNA NT change | Gene NT change | Protein change | Exon/Intron | Mutation type | Restriction site | CpG | # |
| 833 T>C | 9122 T>C | I278T | EX8 | miss | Bsr I+ | 153 | |
| 572 C>T | 6714 C>T | T191M | EX5 | miss | FokI+ | CG>TG | 149 |
| 919 G>A | 9208 G>A | G307S | EX8 | miss | Alu I+ | CG>CA | 88 |
| 1006 C>T | 9851 C>T | R336C | EX9 | miss | CG>TG; * | 83 | |
| IVS11-2 A>C | 13217 A>C | del ex 12 | IN11 | del | Msp I+ | 25 | |
| 969 G>A | 9814 G>A | W323X | EX9 | nons | CG>TG | 20 | |
| 1330 G>A | 13325 G>A | D444N | EX12 | miss | Taq I- | CG>CA | 17 |
| 374 G>A | 5873 G>A | R125Q | EX3 | miss | Pst I+ | CG>CA | 14 |
| 430 G>A | 5929 G>A | E144K | EX3 | miss | Taq I- | CG>CA | 12 |
| 1058 C>T | 11664 C>T | T353M | EX10 | miss | CG>TG | 12 | |
| 797 G>A | 8265 G>A | R266K | EX7 | miss | 10 | ||
| 1566delG | 18220delG | fs, stop at aa 540 | EX16 | del | NciI- | 10 | |
| 785 C>T | 8253 C>T | T262M | EX7 | miss | CG>TG | 10 | |
| 341 C>T | 5840 C>T | A114V | EX3 | miss | Mae II+ | CG>TG | 10 |
| 494 G>A | 6541 G>A | C165Y | EX4 | miss | BsoF I- | 8 | |
| 362 G>A | 5861 G>A | R121H | EX3 | miss | CG>CA; * | 7 | |
| 904 G>A | 9193 G>A | E302K | EX8 | miss | CG>CA | 6 | |
| 253 G>A | 3620 G>A | G85R | EX2 | miss | CG>CA | 6 | |
| 1039 G>A | 9884 G>A | G347S | EX9 | miss | CG>CA | 6 | |
| 302 T>C | 3669 T>C | L101P | EX2 | miss | 6 | ||
| 676 G>A | 6932 G>A | A226T | EX6 | miss | CG>CA | 5 | |
| 1321 A>T | 13316 A>T | K441X | EX12 | nons | 5 | ||
| 457 G>A | 6504 G>A | G153R | EX4 | miss | 5 | ||
| 451 G>A | 5950 G>A | G151R | EX3 | miss | CG>CA | 5 | |
| 770 C>T | 8238 C>T | T257M | EX7 | miss | Nla III+ | CG>TG | 5 |
| 862 G>A | 9151 G>A | A288T | EX8 | miss | CG>CA | 5 | |
| 700 G>A | 6956 G>A | D234N | EX6 | miss | CG>CA | 5 | |
| 959 T>C | 9804 T>C | V320A | EX9 | miss | 5 | ||
| 373 C>T | 5872 C>T | R125W | EX3 | miss | Aci I - | CG>TG | 5 |
| 19insC | 19insC | fs, stop at aa 36 | EX1 | ins | 5 | ||
| 1007 G>A | 9852 G>A | R336H | EX9 | miss | Sph I- | CG>CA; * | 5 |
| IVS1+1G>A | 210 G>A | del ex1 or 153del57 | IN1 | del | 5 | ||
| 346 G>A | 5845 G>A | G116R | EX3 | miss | CG>CA | 5 | |
| 146 C>T | 146 C>T | P49L | EX1 | miss | Dde I+ | CG>TG | 5 |
| 361 C>T | 5860 C>T | R121C | EX3 | miss | CG>TG; * | 5 | |
| 770 C>T | 8238 C>T | T257M | EX7 | miss | CG>TG | 4 | |
| 1105 C>T | 11711 C>T | R369C | EX10 | miss | Hha I- | CG>TG; * | 4 |
| 1111 G>A | 11717 G>A | V371M | EX10 | miss | CG>CA | 3 | |
| 684 C>A | 6940 C>A | N228K | EX6 | miss | 3 | ||
| 194 A>G | 194 A>G | H65R | EX1 | miss | 3 | ||
| 1013 T>C | 9858 T>C | L338P | EX9 | miss | PvuI+ | 3 | |
| 533 del 18 | n.d. | del aa 179-184 | n.d. | del | 3 | ||
| 1046 G>A | 11652 G>A | S349N | EX10 | miss | 3 | ||
| 456 C>G | 6503 C>G | I152M | EX4 | miss | Sau3A I- | 3 | |
| 1316 G>A | 13311 G>A | R439Q | EX12 | miss | EcoR II+, Msp I- | CG>CA | 3 |
| 841 C>T | 9130 C>T | D281N | EX8 | miss | BamH I- | 3 | |
| 325 T>C | 5824 T>C | C109R | EX3 | miss | 3 | ||
| 824 G>A | 8292 G>A | C275Y | EX7 | miss | 3 | ||
| 304 A>C; IVS4-29del129 | 3671 A>C 6643 del29 | K102Q; del EX5 | EX2; IVS4 | miss | PstI+ | 3 | |
| 442 G>A | 5941 G>A | G148R | EX3 | miss | Msp I-,BstN I+ | CG>CA | 3 |
| 463 G>A | 6510 G>A | A155T | EX4 | miss | Sau96 I+ | 3 | |
| 694 C>G | 6950 C>G | H232D | EX6 | miss | 3 | ||
| 1136 G>A | 11742 G>A | R379Q | EX10 | miss | CG>CA | 2 | |
| 683 A>G | 6939 A>G | N228S | EX6 | miss | 2 | ||
| 689delT | 6945delT | L230RfsX39 | EX6 | del | Msp I+ | 2 | |
| IVS9+1 G>T | 9885 G>T | del ex 9, T318fsX330 | IN9 | splicing | HphI- | 2 | |
| 1081G>A | 11687 G>A | A361T | EX10 | miss | Hha I- | CG>CA | 2 |
| 1106 G>A | 11712 G>A | R369H | EX10 | miss | CG>CA; * | 2 | |
| 1060 G>A | 11666 G>A | V354M | EX10 | miss | 2 | ||
| 862_866del5 | 9151_9155del5 | E289GfsX39 | EX8 | del | 2 | ||
| 1150 A>G | 12888 A>G | K384E | EX11 | miss | 2 | ||
| 1152 G>C | 12890 G>C | K384N | EX11 | miss | 2 | ||
| 715 G>A | 6971 G>A | E239K | EX6 | miss | 2 | ||
| 700_702delGAC | 6956_6958delGAC | 234delD | EX6 | del | 2 | ||
| 691 G>C | 6947 G>C | A231L | EX6 | miss | 2 | ||
| IVS5-14_-7del8 | 6909_6916del8 | Y223GfsX23 | IVS5 | del | 2 | ||
| IVS12-1 G>C | 13933 G>C | del exon 13 | IVS12 | splicing | 2 | ||
| 262 C>T | 3629 C>T | P88S | EX2 | miss | Mnl I+ | 2 | |
| 233 C>G | 3600 C>G | P78R | EX2 | miss | 2 | ||
| 362 G>T | 5861 G>T | R121L | EX3 | miss | 2 | ||
| IVS1-1G>C | 3576 G>C | 210del26, fs stop at aa 9 | IN1 | splicing | 2 | ||
| 1591del4 | 18245del4 | 1591delTTCG, fs | EX16 | del | 2 | ||
| 502 G>A | 6549 G>A | V168M | EX4 | miss | CG>CA | 2 | |
| IVS 12+1 G>A | 13554 G>A | del ex 12 | IN12 | del | Sau3A I+ | 2 | |
| 518delTGA | 6565_6567delTGA | M173del | EX4 | del | 2 | ||
| 526 G>A | 6573 G>A | E176K | EX4 | miss | BstX I+ | CG>CA | 2 |
| IVS4+1 G>A | 6579 G>A | n.d. | IVS4 | splicing | 2 | ||
| 1226 G>A | 13221 G>A | W409X | EX12 | nons | Bsl I- | 2 | |
| 28delG | 28delG | fs, stop at aa 81 | EX1 | del | 2 | ||
| 1616 T>C | 18270 T>C | L539S | EX16 | miss | 2 | ||
| 1367 T>C | 13942 T>C | L456P | EX13 | miss | 2 | ||
| 1627del19 | 18281del19 | fs, stop at aa 568 | EX16 | del | Sau96I- | 2 | |
| IVS8+1G>A | 9244G>A | del ex 8 | IN8 | other | 2 | ||
| 429 C>G | 5928 C>G | I143M | EX3 | miss | TaqI- | CG>GG | 2 |
| 1601 T>A | 18255 T>A | V534D | EX16 | miss | 1 | ||
| 1590del4 | 18244del4 | 1590delGTTC, fs | EX16 | del | 1 | ||
| 1559insACCACAG | 18213insACCACAG | S520R, fs, stop at aa540 | EX16 | other | 1 | ||
| 1063G>C | 11669G>C | A355P | EX10 | miss | 1 | ||
| 1576 C>A | 18230 C>A | Q526K | EX16 | miss | 1 | ||
| 1055 G>A | 11661 G>A | S352N | EX10 | miss | 1 | ||
| del ex 12, del ex 11 and | n.d. | del ex 12, del ex 11 and | n.d. | del | - | 1 | |
| 1622ins4 | 18276ins4 | 1622insTGGA, fs | EX16 | ins | 1 | ||
| 1673del5 | 18327del5 | n.d. | EX17 | splicing | 1 | ||
| 1471 C>T | 15304 C>T | R491C | EX14 | miss | Bgl II+ | CG>TG | 1 |
| 1082 T>C | 11688 T>C | A361V | EX10 | miss | 1 | ||
| 1221delC | 12959delC | W408fsX423 | EX11 | del | 1 | ||
| IVS11+39del99 | 13000del99 | n.d. | IN11 | del | 1 | ||
| IVS11-89del49 | 13130del49 | n.d. | IN11 | del | 1 | ||
| 1170 G>A | 12908 G>A | W390X | EX11 | nons | 1 | ||
| 1259C>G | 13254 C>G | S420X | EX12 | nons | 1 | ||
| 1265 C>T | 13260 C>T | P422L | EX12 | miss | CG>TG | 1 | |
| 1146 del 78 | n.d. | del ex 11 | n.d. | other | 1 | ||
| IVS10+7 C>T | 11758 C>T | n.d. | IN10 | splicing | 1 | ||
| 1286_1288delTCA | 13281_13283del | I429del,fs | EX12 | del | 1 | ||
| IVS11+1G>A | 11752 G>A | del aa382-407 | IN11 | other | 1 | ||
| 1301 C>A | 13296 C>A | T434N | EX12 | miss | 1 | ||
| 1304T>C | 13299T>C | I435T | EX12 | miss | 1 | ||
| 1336 G>T | 13331 G>T | A446S | EX12 | miss | 1 | ||
| 1109 G>A | 11715 G>A | C370Y | EX10 | miss | Mae II+ | 1 | |
| 1126 G>A | 11732 G>A | D376N | EX10 | miss | CG>CA | 1 | |
| 1397C>T | 13972 C>T | S466L | EX13 | miss | CG>TG | 1 | |
| 1173 G>T | 12911 G>T | M391I | EX11 | miss | 1 | ||
| 103G>A; 129G>A | 103 G>A | D35N; W43X | EX1 | miss | 1 | ||
| 415 G>A | 5914 G>A | G139R | EX3 | miss | CG>CA | 1 | |
| 434 C>T | 5933 C>T | P145L | EX3 | miss | CG>TG | 1 | |
| 442insG | 5941insG | N149fsX187 | EX3 | ins | 1 | ||
| 443 G>A | 5942 G>A | G148E | EX3 | miss | 1 | ||
| 452del 80 | n.d. | del ex 4 | n.d. | del | 1 | ||
| 461 T>A | 6508 T>A | L154Q | EX4 | miss | CG>TG | 1 | |
| 464C>T | 6510 C>T | A155V | EX4 | miss | 1 | ||
| 469 G>C | 6516 G>C | A157P | EX4 | miss | 1 | ||
| 493del22 | 6540del22 | fs,del aa 165-172 | EX4 | del | 1 | ||
| 503 T>C | 6550 T>C | V168A | EX4 | miss | 1 | ||
| 488 | 6585 | Y163R | EX4 | miss | 1 | ||
| 393 G>C | 5892 G>C | E131D | EX3 | miss | 1 | ||
| 384 G>C | 5883 G>C | E128D | EX3 | miss | Mul I-,Fok I- | 1 | |
| del bp 153-209 | n.d. | del aa 52-70 | n.d. | del | - | 1 | |
| 172 C>T | 172 C>T | R58W | EX1 | miss | CG>TG | 1 | |
| 194 A>C | 194 A>C | H65R | EX1 | miss | 1 | ||
| IVS1+1insC | 210insC | del ex 1 (?) | IN1 | ins | 1 | ||
| G253 del | G253del | fs | EX2 | del | 1 | ||
| 260 C>A | 3627 C>A | T87N | EX2 | miss | MslI- | 1 | |
| 306 G>C | 3673 G>C | K102N | EX2 | miss | 1 | ||
| 313 C>G | 3680 C>G | 313del4, fs | EX2 | del | 1 | ||
| 374 G>A | 5873 G>A | R125Q | EX3 | miss | Pst I+ | CG>CA | 1 |
| 374 G>C | 5873 G>C | R125P | EX3 | miss | Hpa II+ | CG>CC | 1 |
| 376 A>G | 5875 A>G | M126V | EX3 | miss | 1 | ||
| IVS4-38del796 | 6636_7431del796 | V178GfsX23 | IVS4-6 | del | 1 | ||
| IVS4-31del 29 | 6643del29 | del ex 5 | IN4 | del | 1 | ||
| 796A>G | 8264 A>G | R266G | EX7 | miss | BstN I- | 1 | |
| 808del3 | 8276del3 | del E270 | EX7 | del | 1 | ||
| IVS7+1 G>A | 8297 G>A | 828ins104, 737del92 | IN7 | splicing | 1 | ||
| 833 T>G | 9122 T>C | I278S | EX8 | miss | TspR I+ | 1 | |
| 869 C>T | 9158 C>T | P290L | EX8 | miss | Alu I+ | CG>TG | 1 |
| 892insC | 9181insC | Q298fsX329 | EX8 | ins | 1 | ||
| 913 G>A | 9202 G>A | G305R | EX8 | miss | 1 | ||
| 593 A>T | 6735 A>T | D198V | EX5 | miss | 1 | ||
| 955del85 | n.d. | del ex 9 | n.d. | other | 1 | ||
| 962 A>T | 9807 A>T | D321V | EX9 | miss | Hpy8 I- | 1 | |
| 992 C>A | 9837 C>A | A331E | EX9 | miss | Hinf I+ | 1 | |
| 785 C>G | 8253 C>G | T262R | EX7 | miss | CG>GG | 1 | |
| 775 G>A | 8243 G>A | G259S | EX7 | miss | CG>CA | 1 | |
| 539 T>C | 6681 T>C | V180A | EX5 | miss | 1 | ||
| 599 C>T | 6741 C>T | P200L | EX5 | miss | Msp I- | 1 | |
| 650 C>T | 6792 C>T | S217F | EX6 | miss | 1 | ||
| 671 G>A | 6927 G>A | R224H | EX6 | miss | CG>CA | 1 | |
| 684 C>G | 6940 C>G | N228K | EX6 | miss | 1 | ||
| 727 C>T | 6983 C>T | Q243X | EX6 | nons | Fnu4HI- | 1 | |
| IVS6-1 G>C | 8204 G>C | n.d. | IN6 | splicing | 1 | ||
| 739del 30 | n.d. | del aa 247-256 | n.d. | del | 1 | ||
| 740del25 | 8208del25 | del aa 247-255 | EX7 | del | 1 | ||
| 361 C>A | 5680 C>A | R121S | EX3 | miss | 1 | ||
| 775 G>A | 8243 G>A | G259D | EX7 | miss | CG>CA | 1 | |
| 992 C>T | 9837 C>T | A331V | EX9 | miss | CG>TG | 1 |
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