TCR BETA SNPs

GENE(Arden) GENE(Rowen) PSEUDO? KNOWN? BASE POSN ACCESSION # dbSNP ID ALLELE 1 ALLELE 2 HZ GENE FEATURE AA 1 AA 2 IMGT POSN.1 STRUCTURAL FEATURE KABAT POSN.2 NOTES
BV01S1 BV09 - - 206560 U66059 L36092 458387 A G 0.03 Promoter - - - - - -
BV01S1 BV09 - - 206712 U66059 L36092 19618 A G 0.26 Intron - - - - - -
BV01S1 BV09 - + 206979 U66059 L36092 19617 C G 0.24 Exon2 his gln 55 FR2 48 -
BV02S1 BV20-1 - - 204070 U66060 L36092 19621 A G 0.05 Intron - - - - - -
BV02S1 BV20-1 - - 204270 U66060 L36092 458388 C T 0.02 Intron - - - - - -
BV02S1 BV20-1 - + 204365 U66060 L36092 19619 A T 0.49 Exon2 arg trp 10 FR1 10 -
BV02S1 BV20-1 - + 204461 U66060 L36092 19620 A C 0.39 Exon2 lys gln 48 FR2 41 -
BV03S1 BV28 - - 102112 U66061 L36092 458389 C T 0.08 Intron - - - - - -
BV03S1 BV28 - - 102127 U66061 L36092 458390 A C 0.07 Intron - - - - - -
BV03S1 BV28 - - 102502 U66061 L36092 19622 C T 0.5 RSS_Spacer - - - - - -
BV04S1 BV29-1 - - 121473 U66061 L36092 19624 C G 0.12 5_prime - - - - - -
BV04S1 BV29-1 - - 121648 U66061 L36092 458391 A T 0.03 Exon1 gln leu - LDR - -
BV04S1 BV29-1 - - 122193 U66061 L36092 19623 A C 0.05 Exon2 met leu 94 FR3 82 -
BV05S1 BV05-1 - - 113475 U66059 L36092 19625 A G 0.33 5_prime - - - - - -
BV05S1 BV05-1 - - 114026 U66059 L36092 458392 C T 0.03 Exon2 ser phe 87 FR3 75 -
BV05S1 BV05-1 - - 114096 U66059 L36092 458393 A G 0.03 RSS_Heptamer - - - - - -
BV05S2 BV05-6 - - 56983 U66060 L36092 458394 A G 0.08 5_prime - - - - - -
BV05S2 BV05-6 - - 57049 U66060 L36092 458395 C T 0.21 5_prime - - - - - -
BV05S2 BV05-6 - - 57075 U66060 L36092 458396 A C 0.27 5_prime - - - - - -
BV05S2 BV05-6 - - 57650 U66060 L36092 458397 A T 0.16 Exon2 tyr phe 81 FR3 70 -
BV05S2 BV05-6 - - 57681 U66060 L36092 458398 C T 0.07 Exon2 asn asn 92 FR3 80 -
BV05S2 BV05-6 - - 57689 U66060 L36092 458399 T G 0.08 Exon2 leu trp 95 FR3 83 -
BV05S3 BV05-5 - - 39779 U66060 L36092 458400 T G 0.02 Exon1 val val - LDR - -
BV05S3 BV05-5 - - 39935 U66060 L36092 458401 A G 0.02 Exon2 thr ala 2 FR1 2 -
BV05S3 BV05-5 - - 39985 U66060 L36092 19626 A C 0.42 Exon2 gln his 18 FR1 18 -
BV05S4 BV05-8 - - 97305 U66060 L36092 458402 C G 0.45 Promoter - - - - - -
BV05S4 BV05-8 - - 97338 U66060 L36092 458403 C G 0.14 5_prime - - - - - -
BV05S4 BV05-8 - - 97372 U66060 L36092 458404 A G 0.08 5_prime - - - - - -
BV05S4 BV05-8 - - 97464 U66060 L36092 458405 C T 0.1 Exon1 thr ile - LDR - -
BV05S4 BV05-8 - - 97516 U66060 L36092 458406 A G 0.07 Intron - - - - - -
BV05S4 BV05-8 - - 97654 U66060 L36092 458407 C T 0.34 Exon2 ala val 19 FR1 19 -
BV05S4 BV05-8 - - 97835 U66060 L36092 458408 C T 0.21 Exon2 asn asn 92 FR3 80 -
BV05S5 BV05-3 P - 203735 U66059 L36092 458409 A G 0.05 5_prime - - - - - -
BV05S5 BV05-3 P + 203812 U66059 L36092 19627 C T 0.27 5_prime - - - - - -
BV05S5 BV05-3 P - 203832 U66059 L36092 458410 A G 0.03 5_prime - - - - - -
BV05S5 BV05-3 P - 203988 U66059 L36092 19628 A C 0.05 Intron - - - - - -
BV05S5 BV05-3 P - 204216 U66059 L36092 19629 T G 0.12 Exon2 val gly 49 - - -
BV05S5 BV05-3 P + 204461 U66059 L36092 19630 A T 0.26 3_prime - - - - - -
BV05S6 BV05-4 - + 20185 U66060 L36092 458411 A T 0.39 5_prime - - - - - -
BV05S6 BV05-4 - - 20296 U66060 L36092 458412 C G 0.03 5_prime - - - - - -
BV05S6 BV05-4 - + 20333 U66060 L36092 458413 C T 0.47 Exon1 ala val - LDR - -
BV05S6 BV05-4 - - 20346 U66060 L36092 458414 C T 0.14 Exon1 leu leu - LDR - -
BV05S6 BV05-4 - - 20489 U66060 L36092 458415 C G 0.07 Exon2 asp glu 1 FR1 1 -
BV05S6 BV05-4 - - 20490 U66060 L36092 458416 A G 0.07 Exon2 thr ala 2 FR1 2 -
BV05S6 BV05-4 - - 20640 U66060 L36092 458417 A G 0.02 Exon2 lys glu 59 CDR2 52 cdr2 tip3
BV05S6 BV05-4 - - 20700 U66060 L36092 458418 T G 0.08 Exon2 tyr asp 85 FR3 73 hv4 tip3
BV05S7 BV05-7 P - 77221 U66060 L36092 19631 A G 0.02 5_prime - - - - - -
BV05S7 BV05-7 P - 77291 U66060 L36092 19632 A G 0.02 Exon1 arg gly - - - -
BV05S7 BV05-7 P - 77513 U66060 L36092 19633 T G 0.18 Exon2 his gln 17 - - -
BV05S7 BV05-7 P - 77642 U66060 L36092 458419 C G 0.03 Exon2 phe leu 71 - - -
BV05S7 BV05-7 P - 77713 U66060 L36092 458420 A G 0.18 Exon2 glu gly 97 - - -
BV06S1 BV07-3 - - 199032 U66059 L36092 458421 C T 0.05 5_prime - - - - - -
BV06S1 BV07-3 - + 199311 U66059 L36092 458422 T G 0.26 Exon2 tyr asp 18 FR1 18 -
BV06S1 BV07-3 - + 199445 U66059 L36092 458423 A C 0.26 Exon2 lys asn 73 FR3 *62 -
BV06S1 BV07-3 - + 199510 U66059 L36092 458424 A G 0.26 Exon2 gln arg 96 FR3 84 -
BV06S1 BV07-3 - - 199515 U66059 L36092 458425 T G 0.02 Exon2 tyr asp 98 FR3 86 -
BV06S1 BV07-3 - - 199524 U66059 L36092 458426 A G 0.05 Exon2 met val 101 FR3 89 -
BV06S1 BV07-3 - + 199525 U66059 L36092 458427 C T 0.14 Exon2 ala val 101 FR3 89 -
BV06S1 BV07-3 - + 199533 U66059 L36092 458428 C T 0.23 Exon2 arg cys 104 FR3 92 mutation of invariant cysteine
BV06S2 BV07-8 - - 89152 U66060 L36092 458429 C T 0.37 5_prime - - - - - -
BV06S2 BV07-8 - - 89172 U66060 L36092 458430 A G 0.28 5_prime - - - - - -
BV06S3 BV07-6 - - 49143 U66060 L36092 458431 T G 0.12 5_prime - - - - - -
BV06S3 BV07-6 - - 49152 U66060 L36092 458432 A G 0.12 5_prime - - - - - -
BV06S3 BV07-6 - - 49322 U66060 L36092 458433 C G 0.26 5_prime - - - - - -
BV06S3 BV07-6 - - 49363 U66060 L36092 458434 T G 0.24 5_prime - - - - - -
BV06S3 BV07-6 - - 49373 U66060 L36092 458435 A G 0.34 5_prime - - - - - -
BV06S3 BV07-6 - - 49786 U66060 L36092 458436 C G 0.02 Exon2 pro ala 81 FR3 70 -
BV06S3 BV07-6 - - 49887 U66060 L36092 458437 C T 0.48 RSS_Spacer - - - - - -
BV06S3 BV07-6 - - 50022 U66060 L36092 458438 A G 0.02 3_prime - - - - - -
BV06S3 BV07-6 - - 50107 U66060 L36092 458439 C T 0.02 3_prime - - - - - -
BV06S4 BV07-9 - + 106820 U66060 L36092 458440 A G 0.38 Exon2 asn asp 7 FR1 7 -
BV06S4 BV07-9 - - 107043 U66060 L36092 458441 A G 0.03 Exon2 his arg 93 FR3 81 -
BV06S5 BV07-2 - + 167136 U66059 L36092 458442 A G 0.5 5_prime - - - - - -
BV06S5 BV07-2 - + 167260 U66059 L36092 458443 T G 0.5 Exon1 tyr asp - LDR - -
BV06S5 BV07-2 - - 167525 U66059 L36092 458444 A G 0.02 Exon2 gln arg 43 FR2 36 -
BV06S5 BV07-2 - + 167532 U66059 L36092 458445 C G 0.5 Exon2 ser arg 45 FR2 38 -
BV06S5 BV07-2 - + 167633 U66059 L36092 458446 A G 0.5 Exon2 glu gly 84 FR3 72 hv4 tip3
BV06S5 BV07-2 - + 167778 U66059 L36092 458447 C G 0.5 3_prime - - - - - -
BV06S6 BV07-7 - - 68912 U66060 L36092 458448 C T 0.05 Intron - - - - - -
BV06S6 BV07-7 - - 68985 U66060 L36092 458449 A T 0.07 Intron - - - - - -
BV06S6 BV07-7 - - 69212 U66060 L36092 458450 C T 0.05 Exon2 pro leu 72 FR3 61 -
BV06S6 BV07-7 - - 69261 U66060 L36092 458451 A G 0.02 Exon2 leu leu 89 FR3 77 -
BV06S6 BV07-7 - - 69291 U66060 L36092 458452 A G 0.05 Exon2 ser ser 99 FR3 87 -
BV06S6 BV07-7 - - 69309 U66060 L36092 458453 C T 0.49 Exon2 ala ala - CDR3 - -
BV06S8 BV07-4 P - 12271 U66060 L36092 458454 T G 0.1 5_prime - - - - - -
BV06S8 BV07-4 P - 12288 U66060 L36092 458455 A T 0.1 5_prime - - - - - -
BV06S8 BV07-4 P - 12773 U66060 L36092 458456 C T 0.05 Exon2 arg cys 93 - - -
BV06S9 BV07-5 P - 31296 U66060 L36092 458457 A G 0.02 Exon1 ser gly - - - -
BV06S9 BV07-5 P - 31506 U66060 L36092 458458 C T 0.14 Exon2 tyr tyr - - - -
BV06S9 BV07-5 P - 31716 U66060 L36092 458459 A G 0.15 Exon2 ala ala - - - -
BV06S9 BV07-5 P + 31753 U66060 L36092 458460 C T 0.42 Exon2 pro ser - - - -
BV06S9 BV07-5 P + 31770 U66060 L36092 458461 C T 0.42 RSS_Heptamer - - - - - -
BV06S9 BV07-5 P + 31783 U66060 L36092 458462 C T 0.41 RSS_Spacer - - - - - -
BV07S1 BV04-1 - - 105868 U66059 L36092 458463 C T 0.03 Intron - - - - - -
BV07S1 BV04-1 - - 106122 U66059 L36092 458464 C G 0.03 Exon2 pro arg 72 FR3 61 -
BV07S3 BV04-2 - + 138563 U66059 L36092 19634 C T 0.18 RSS_Nonamer - - - - - -
BV07S3 BV04-2 - + 138592 U66059 L36092 19635 T G 0.16 3_prime - - - - - -
BV07S3 BV04-2 - - 138612 U66059 L36092 458465 C T 0.4 3_prime - - - - - -
BV08S1 BV12-3 - + 137953 U66060 L36092 19636 C T 0.05 Exon2 his his - LDR - -
BV08S1 BV12-3 - - 138030 U66060 L36092 19637 C T 0.14 Exon2 pro leu 25 FR1 25 -
BV08S1 BV12-3 - - 138287 U66060 L36092 458466 C T 0.02 3_prime - - - - - -
BV08S2 BV12-4 - + 141127 U66060 L36092 458467 A G 0.42 Exon1 asp gly - LDR - -
BV08S2 BV12-4 - - 141264 U66060 L36092 458468 C T 0.26 Intron - - - - - -
BV08S2 BV12-4 - + 141366 U66060 L36092 458469 C T 0.43 Exon2 his his 29 CDR1 29 -
BV08S2 BV12-4 - + 141367 U66060 L36092 458470 C G 0.05 Exon2 his asp 30 CDR1 30 cdr1 tip3
BV08S2 BV12-4 - - 141582 U66060 L36092 458471 A G 0.07 RSS_Spacer - - - - - -
BV08S2 BV12-4 - - 141607 U66060 L36092 458472 A C 0.22 RSS_Nonamer - - - - - -
BV08S2 BV12-4 - - 141610 U66060 L36092 458473 C T 0.26 3_prime - - - - - -
BV08S2 BV12-4 - - 141619 U66060 L36092 458474 C T 0.28 3_prime - - - - - -
BV08S3 BV12-5 - - 158498 U66060 L36092 19638 C G 0.49 Exon2 his asp 10 FR1 10 -
BV08S3 BV12-5 - - 158589 U66060 L36092 458475 A T 0.05 Exon2 lys met 47 FR2 40 -
BV08S3 BV12-5 - - 158766 U66060 L36092 458476 C T 0.03 RSS_Heptamer - - - - - -
BV08S4 BV12-1 P - 230181 U66059 L36092 19639 C G 0.03 Exon2 leu leu - - - -
BV08S4 BV12-1 P - 230226 U66059 L36092 19640 A C 0.43 Exon2 stop tyr - - - -
BV08S5 BV12-2 P - 255590 U66059 L36092 458477 C T 0.02 5_prime - - - - - -
BV08S5 BV12-2 P - 255897 U66059 L36092 19641 C T 0.47 Exon2 arg stop - - - Re-activates pseudogene
BV09S1 BV03-1 - - 100993 U66059 L36092 458478 A C 0.03 5_prime - - - - - -
BV09S1 BV03-1 - - 101189 U66059 L36092 19642 C T 0.05 Exon1 leu phe - LDR - -
BV09S1 BV03-1 - - 101313 U66059 L36092 19643 A T 0.03 Intron - - - - - splice site disruption
BV09S1 BV03-1 - - 101494 U66059 L36092 458479 A G 0.03 Exon2 lys glu 69 FR3 58 -
BV09S2 BV03-2 P - 152095 U66059 L36092 19644 C T 0.18 Exon2 thr met - - - -
BV09S2 BV03-2 P - 152266 U66059 L36092 19645 C T 0.24 Exon2 ala val - - - -
BV10S1 BV21-1 P - 214283 U66060 L36092 19646 A T 0.18 Intron - - - - - -
BV10S1 BV21-1 P - 214346 U66060 L36092 19647 C T 0.33 Exon2 gly gly - - - -
BV10S1 BV21-1 P - 214464 U66060 L36092 19648 C T 0.23 Exon2 arg stop - - - -
BV10S1 BV21-1 P - 214477 U66060 L36092 458480 C T 0.02 Exon2 ser leu - - - -
BV11S1 BV25-1 - - 51974 U66061 L36092 19649 T G 0.5 5_prime - - - - - -
BV11S1 BV25-1 - - 51975 U66061 L36092 19650 C T 0.1 5_prime - - - - - -
BV11S1 BV25-1 - - 52067 U66061 L36092 19651 C T 0.05 5_prime - - - - - -
BV11S1 BV25-1 - - 52116 U66061 L36092 19652 A G 0.5 Exon1 met val - LDR - -
BV11S1 BV25-1 - - 52191 U66061 L36092 458481 T G 0.49 Intron - - - - - -
BV11S1 BV25-1 - - 52484 U66061 L36092 19653 C T 0.05 Exon2 thr met 84 FR3 72 hv4 tip3
BV11S1 BV25-1 - - 52750 U66061 L36092 19654 C G 0.5 3_prime - - - - - -
BV12S1 BV10-3 - - 121710 U66060 L36092 19658 A G 0.38 Exon2 met val - LDR - -
BV12S1 BV10-3 - + 121784 U66060 L36092 19655 C T 0.47 Exon2 his his 24 FR1 24 -
BV12S1 BV10-3 - + 121805 U66060 L36092 19656 C T 0.4 Exon2 tyr tyr 31 CDR1 *31 -
BV12S1 BV10-3 - - 121834 U66060 L36092 458482 A G 0.02 Exon2 his arg 48 FR2 41 -
BV12S1 BV10-3 - + 121847 U66060 L36092 19657 A G 0.4 Exon2 leu leu 52 FR2 45 -
BV12S2 BV10-1 - - 214649 U66059 L36092 458483 T G 0.02 Exon1 ser arg - LDR - -
BV12S2 BV10-1 - + 214959 U66059 L36092 19659 A C 0.5 Exon2 gln his 60 CDR2 53 cdr2 tip3
BV12S2 BV10-1 - - 215035 U66059 L36092 19660 T G 0.46 Exon2 stop glu 92 FR3 80 BV inactivating SNP
BV12S3 BV10-2 - - 239807 U66059 L36092 458484 C T 0.05 Intron - - - - - -
BV12S3 BV10-2 - - 240058 U66059 L36092 19661 C T 0.13 Exon2 tyr tyr 76 FR3 65 -
BV13S1 BV06-5 - - 265714 U66059 L36092 458485 A C 0.05 5_prime - - - - - -
BV13S1 BV06-5 - - 265715 U66059 L36092 458486 C T 0.05 5_prime - - - - - -
BV13S1 BV06-5 - - 265774 U66059 L36092 458487 C G 0.22 Intron - - - - - -
BV13S1 BV06-5 - - 266054 U66059 L36092 458488 A G 0.02 Exon2 asn ser 74 FR3 *63 -
BV13S1 BV06-5 - - 266163 U66059 L36092 458489 A G 0.02 RSS_Heptamer - - - - - -
BV13S1 BV06-5 - - 266297 U66059 L36092 458490 C T 0.22 3_prime - - - - - -
BV13S3 BV06-1 - - 120833 U66059 L36092 458491 A C 0.05 5_prime - - - - - -
BV13S3 BV06-1 - - 120843 U66059 L36092 458492 A C 0.48 5_prime - - - - - -
BV13S4 BV06-9 P - 84475 U66060 L36092 458493 C G 0.41 5_prime - - - - - -
BV13S4 BV06-9 P - 84519 U66060 L36092 458494 C T 0.08 5_prime - - - - - -
BV13S4 BV06-9 P - 84569 U66060 L36092 458495 A C 0.03 5_prime - - - - - -
BV13S4 BV06-9 P - 84570 U66060 L36092 458496 C T 0.14 5_prime - - - - - -
BV13S4 BV06-9 P - 84996 U66060 L36092 458497 A G 0.37 Exon2 val val 101 - - -
BV13S5 BV06-4 - + 195469 U66059 L36092 458498 C G 0.49 5_prime - - - - - -
BV13S5 BV06-4 - + 195527 U66059 L36092 458499 A C 0.18 Exon1 arg ser - LDR - -
BV13S5 BV06-4 - + 195671 U66059 L36092 458500 C T 0.18 Exon2 thr ile 1 FR1 1 -
BV13S5 BV06-4 - - 195705 U66059 L36092 458501 A C 0.05 Exon2 ile ile 12 FR1 12 -
BV13S5 BV06-4 - + 195721 U66059 L36092 458502 A C 0.18 Exon2 ser arg 18 FR1 18 -
BV13S5 BV06-4 - - 195979 U66059 L36092 458503 C T 0.1 RSS_Spacer - - - - - -
BV13S6 BV06-6 - + 26659 U66060 L36092 458504 A T 0.39 5_prime - - - - - -
BV13S6 BV06-6 - + 26835 U66060 L36092 458505 C T 0.39 Intron - - - - - -
BV13S6 BV06-6 - + 26863 U66060 L36092 458506 A G 0.38 Intron - - - - - -
BV13S6 BV06-6 - - 26955 U66060 L36092 458507 A G 0.14 Exon2 his arg 11 FR1 11 -
BV13S6 BV06-6 - + 26993 U66060 L36092 458508 A G 0.39 Exon2 thr ala 24 FR1 24 -
BV13S6 BV06-6 - + 27091 U66060 L36092 458509 C T 0.36 Exon2 asp asp 67 FR3 56 -
BV13S6 BV06-6 - - 27106 U66060 L36092 458510 A G 0.03 Exon2 pro pro 72 FR3 61 -
BV13S6 BV06-6 - + 27350 U66060 L36092 458511 C T 0.24 3_prime - - - - - -
BV13S6 BV06-6 - + 27379 U66060 L36092 458512 A G 0.46 3_prime - - - - - -
BV13S7 BV06-8 - - 64370 U66060 L36092 458513 C G 0.16 5_prime - - - - - -
BV13S7 BV06-8 - - 64471 U66060 L36092 458514 C G 0.02 5_prime - - - - - -
BV13S7 BV06-8 - - 64718 U66060 L36092 458515 A C 0.22 Exon2 pro pro - LDR - -
BV13S7 BV06-8 - - 64767 U66060 L36092 458516 A G 0.16 Exon2 arg gly 16 FR1 16 -
BV13S7 BV06-8 - - 64827 U66060 L36092 458517 C T 0.18 Exon2 arg stop 43 FR2 36 BV inactivating SNP
BV13S7 BV06-8 - - 64972 U66060 L36092 458518 A G 0.2 Exon2 gln arg 98 FR3 86 -
BV13S7 BV06-8 - - 65012 U66060 L36092 458519 A G 0.03 RSS_Heptamer - - - - - -
BV13S8 BV06-7 P - 44927 U66060 L36092 458520 A G 0.03 5_prime - - - - - -
BV13S8 BV06-7 P - 45043 U66060 L36092 458521 C T 0.03 5_prime - - - - - -
BV13S8 BV06-7 P - 45330 U66060 L36092 458522 A G 0.03 Exon2 arg gly 49 - - -
BV13S8 BV06-7 P - 45583 U66060 L36092 458523 T G 0.38 3_prime - - - - - -
BV14S1 BV27 - - 96788 U66061 L36092 19662 A C 0.33 Intron - - - - - -
BV14S1 BV27 - - 97264 U66061 L36092 19663 A G 0.05 3_prime - - - - - -
BV15S1 BV24-1 - - 37460 U66061 L36092 19664 C T 0.08 5_prime - - - - - -
BV15S1 BV24-1 - - 38036 U66061 L36092 19665 A G 0.23 Exon2 gln arg 51 FR2 44 -
BV16S1 BV14 - - 165210 U66060 L36092 19666 A G 0.25 5_prime - - - - - -
BV16S1 BV14 - - 165319 U66060 L36092 19667 A T 0.03 Intron - - - - - -
BV16S1 BV14 - - 165471 U66060 L36092 458524 C T 0.03 Exon2 asp asp 24 FR1 24 -
BV16S1 BV14 - + 165570 U66060 L36092 19668 A G 0.4 Exon2 glu glu 68 FR3 57 -
BV16S1 BV14 - - 165791 U66060 L36092 458525 A C 0.03 3_prime - - - - - -
BV17S1 BV19 - - 196137 U66060 L36092 19669 C G 0.02 5_prime - - - - - -
BV17S1 BV19 - - 196279 U66060 L36092 19670 A C 0.02 5_prime - - - - - -
BV17S1 BV19 - - 196324 U66060 L36092 19671 C T 0.49 Exon1 leu phe - LDR - -
BV17S1 BV19 - - 196409 U66060 L36092 19672 T G 0.02 Intron - - - - - -
BV17S1 BV19 - - 196500 U66060 L36092 19673 A G 0.39 Exon2 pro pro 8 FR1 8 -
BV17S1 BV19 - - 196563 U66060 L36092 19674 C T 0.02 Exon2 his his 29 CDR1 29 -
BV18S1 BV18 - - 193040 U66060 L36092 19675 C G 0.2 Exon1 leu val - LDR - -
BV18S1 BV18 - - 193432 U66060 L36092 19676 A G 0.22 Exon2 met val 26 FR1 26 -
BV18S1 BV18 - - 193732 U66060 L36092 19677 A G 0.07 3_prime - - - - - -
BV19S1 BV23-1 P - 28575 U66061 L36092 458526 A G 0.15 Exon2 asp gly - - - -
BV20S1 BV30 - - 214220 U66061 L36092 19681 A G 0.28 3_prime - - - - - -
BV20S1 BV30 - + 214355 U66061 L36092 19680 C T 0.42 Exon2 leu leu 95 FR3 83 -
BV20S1 BV30 - - 214376 U66061 L36092 458529 C T 0.05 Exon2 ile ile - FR3 - -
BV20S1 BV30 - + 214396 U66061 L36092 19679 C T 0.28 Exon2 pro ser 81 FR3 70 SAG contact residue4
BV20S1 BV30 - - 214440 U66061 L36092 458528 A G 0.06 Exon2 asp gly 60 CDR2 53 "cdr2 tip, SAG contact residue"3
BV20S1 BV30 - - 214450 U66061 L36092 458527 A G 0.06 Exon2 val ile 57 CDR2 50 SAG contact residue4
BV20S1 BV30 - + 214492 U66061 L36092 19678 C T 0.25 Exon2 arg stop 43 FR2 36 BV inactivating SNP
BV21S1 BV11-1 - - 222333 U66059 L36092 458530 C T 0.03 5_prime - - - - - -
BV21S1 BV11-1 - - 222640 U66059 L36092 458531 A G 0.14 Exon2 his arg 29 CDR1 29 cdr1 tip3
BV21S1 BV11-1 - - 222653 U66059 L36092 458532 C T 0.14 Exon2 tyr tyr 40 FR2 33 -
BV21S1 BV11-1 - - 222697 U66059 L36092 458533 A G 0.14 Exon2 gln arg 55 FR2 48 -
BV21S1 BV11-1 - - 222744 U66059 L36092 458534 C T 0.02 Exon2 arg