← Back to All Deposition Forms

ASMD Public Deposition

Alternative   Splicing     Mutation       Database  v1.2

Bechtel J M, Rajesh P, Ilikchyan I, Deng Y, Mishra P K, Wang Q, Wu X, Afonin K A, Grose W E, Wang Y, Khuder S, and Fedorov A

Mutation Target for Note: 1: "SMN" NM_022875, exon #8, @6, C→T 2: "MAPT" NM_016835, exon #11, @30, T→C 3: "MAPT" NM_016835, exon #11, @16, AAG→_ 4: "CD40" NM_001250, exon #5, @5, A→T 5: "ADA" NM_000022, exon #7, @37, G→A 6: "ATM" NM_000051, exon #43, @59, G→A 7: "PMM2" NC_000016, exon #5, @68, G→A 8: "HEXB" NM_000521, exon #11, @8, C→T 9: "ATP7A" NM_000052, exon #20, @103, G→A 10: "BRCA1" NM_007296, exon #14, @6, G→T 12: "F8" NM_000132, exon #19, @48, C→T 13: "HPRT" NM_000194, exon #2, @92, G→T 14: "HPRT" NM_000194, exon #3, @9, G→A 15: "HPRT" NM_000194, exon #6, @80, C→A 16: "HPRT" NM_000194, exon #8, @48, G→T 17: "HPRT" NM_000194, exon #8, @65, C→T 18: "CFTR" NM_000492, exon #10, @173, G→A 20: "HPRT" NM_000194, exon #8, @6, G→A 21: "HPRT" NM_000194, exon #8, @7, G→T 22: "HPRT" NM_000194, exon #8, @12, G→A 23: "IVD" NM_002225.2, exon #2, @4, C→T 24: "IVD" NM_002225.2, exon #2, @5, G→C 25: "IVD" NM_002225.2, exon #2, @61, G→A 26: "IVD" NM_002225.2, exon #8, @86, _→G 27: "MAPT" NM_016835, exon #11, @15, T→G 28: "MLH1" NM_000249, exon #17, @80, G→C 29: "HPRT" NM_000194, exon #8, @57, G→T 30: "HPRT" NM_000194, exon #8, @58, A→T 31: "HPRT" NM_000194, exon #8, @70, A→T 32: "MAPT" NM_016835, exon #11, @66, T→C 33: "PAH" NM_000277, exon #11, @132, A→T 34: "PTPRC" NM_002838, exon #4, @77, C→G 35: "ATM" NM_000051, exon #8, @86, C→T 36: "ATM" NM_000051, exon #8, @140, C→T 37: "ATM" NM_000051, exon #41, @14, G→T 38: "ATM" NM_000051, exon #41, @53, G→T 39: "APC" NM_000038, exon #14, @126, G→T 40: "MLH1" NM_000249, exon #17, @80, G→T 41: "MLH1" NM_000249, exon #17, @79, C→T 42: "FAH" NM_000137, exon #8, @90, C→T 43: "HMBS" NM_000190, exon #2, @33, C→G 44: "RET" NM_020975, exon #11, @62, C→T 45: "NF1" NM_001042492, exon #9, @22, C→T 46: "NF1" NM_001042492, exon #9, @57, G→A 47: "NF1" NM_001042492, exon #9, @58, C→A 48: "MLH1" NM_000249, exon #17, @79, CG→_ 49: "FBN" NM_000138, exon #51, @41, C→T 50: "PDHA" NM_000284.1, exon #6, @45, A→G 51: "PDHA" NM_000284.1, exon #6, @13, G→A 52: "HPRT" NM_000194, exon #3, @73, _→G 53: "HPRT" NM_000194, exon #2, @71, A→_ 54: "HPRT" NM_000194, exon #1, @88, G→A 56: "HPRT" NM_000194, exon #8, @18, CC→TT 57: "HPRT" NM_000194, exon #8, @19, C→T 58: "HPRT" NM_000194, exon #3, @17, C→T 59: "HPRT" NM_000194, exon #3, @29, A→T 60: "HPRT" NM_000194, exon #3, @75, G→T 61: "HPRT" NM_000194, exon #8, @12, G→T 62: "ATP7A" NM_000052, exon #7, @39, AG→_ 63: "CLC5" NM_000084.2, exon #10, @105, T→G 64: "HADH2" NM_004493, exon #5, @88, C→A 65: "HEXB" NM_000521, exon #12, @64, A→G 66: "DMD" NM_000109.2, exon #31, @17, T→A 67: "NF1" NM_001042492, exon #19, @15, C→T 68: "SMN" NM_022875, exon #8, @40, TCC→_ 69: "SMN" NM_022875, exon #8, @43, TTA→_ 70: "SMN" NM_022875, exon #8, @46, AAT→_ 71: "SMN" NM_022875, exon #8, @49, TAA→_ 72: "SMN" NM_022875, exon #8, @45, A→G 73: "SMN" NM_022875, exon #8, @45, A→C 74: "SMN" NM_022875, exon #8, @46, A→C 75: "SMN" NM_022875, exon #8, @47, A→C 76: "SMN" NM_022875, exon #8, @49, T→G 77: "SMN" NM_022875, exon #8, @51, A→T 78: "SMN" NM_022875, exon #8, @51, A→C 79: "SMN" NM_022875, exon #8, @20, A→T 80: "SMN" NM_022875, exon #8, @37, C→T 81: "SMN" NM_022875, exon #8, @25, GG→TT 82: "CFTR" NM_000492, exon #13, @19, T→A 83: "CFTR" NM_000492, exon #13, @25, G→A 84: "CFTR" NM_000492, exon #13, @34, A→G 85: "CFTR" NM_000492, exon #13, @37, C→T 86: "CFTR" NM_000492, exon #13, @40, T→C 87: "CFTR" NM_000492, exon #13, @40, T→G 88: "CFTR" NM_000492, exon #13, @43, T→A 89: "CFTR" NM_000492, exon #13, @49, A→G 90: "CFTR" NM_000492, exon #13, @49, A→T 91: "CFTR" NM_000492, exon #13, @52, C→T 92: "CFTR" NM_000492, exon #10, @16, T→_ 93: "CFTR" NM_000492, exon #10, @18, T→G 94: "CFTR" NM_000492, exon #10, @61, G→A 95: "CFTR" NM_000492, exon #10, @72, C→G 96: "CFTR" NM_000492, exon #10, @122, T→G 97: "CFTR" NM_000492, exon #10, @144, A→T 98: "CFTR" NM_000492, exon #10, @145, C→G 99: "CFTR" NM_000492, exon #10, @145, C→A 100: "CFTR" NM_000492, exon #10, @146, A→G 101: "CFTR" NM_000492, exon #10, @146, A→T 102: "CFTR" NM_000492, exon #10, @146, A→C 103: "CFTR" NM_000492, exon #10, @147, G→T 104: "CFTR" NM_000492, exon #10, @146, A→_ 105: "CFTR" NM_000492, exon #10, @147, G→C 106: "CFTR" NM_000492, exon #10, @148, T→G 107: "CFTR" NM_000492, exon #10, @148, T→C 108: "CFTR" NM_000492, exon #10, @148, T→A 109: "CFTR" NM_000492, exon #10, @150, G→A 110: "CFTR" NM_000492, exon #10, @153, G→T 111: "CFTR" NM_000492, exon #10, @154, G→T 112: "CFTR" NM_000492, exon #10, @154, G→C 113: "CFTR" NM_000492, exon #10, @155, C→A 114: "CFTR" NM_000492, exon #10, @155, C→G 115: "CFTR" NM_000492, exon #10, @155, C→T 116: "CFTR" NM_000492, exon #10, @156, G→T 117: "CFTR" NM_000492, exon #10, @156, G→C 118: "CFTR" NM_000492, exon #10, @164, _→G 119: "COL11A2" NM_080680, exon #54, @13, C→T 120: "ACADSB" NM_001609, exon #10, @37, A→G 121: "NF1" NM_001042492, exon #45, @36, C→G 122: "NF1" NM_001042492, exon #45, @36, C→A 123: "NF1" NM_001042492, exon #45, @36, C→T 124: "NBN" NM_002485, exon #7, @37, _→GG 125: "ITGA2B" NM_000419, exon #28, @57, _→CCCCT 126: "COL17A1" NM_000494, exon #33, @21, C→T 127: "GM2A" NM_000405, exon #2, @79, G→T 128: "ITGA2B" NM_000419, exon #28, @100, C→T 129: "SMN" NM_022875, exon #4, @32, G→A 130: "SMN" NM_022875, exon #4, @166, GAAGT→_ 131: "COL7A1" NM_000094, exon #19, @29, _→G 132: "LAMB3" NM_000228, exon #17, @142, C→T 133: "GH1" J03071, exon #3, @5, A→G 134: "GH1" J03071, exon #3, @3, A→C 135: "GH1" J03071, exon #3, @3, A→G 136: "GH1" J03071, exon #3, @4, G→C 137: "GH1" J03071, exon #3, @6, A→C 138: "GH1" J03071, exon #3, @6, A→G 139: "GH1" J03071, exon #3, @23, A→T 140: "GH1" J03071, exon #3, @24, A→T 141: "GH1" J03071, exon #3, @27, G→T 142: "GH1" J03071, exon #3, @29, A→G 143: "ATP7A" NM_000052, exon #7, @103, G→A 145: "ATP7A" NM_000052, exon #8, @64, C→T 146: "ACADM" NM_000016, exon #5, @76, C→T 147: "MLH1" NM_000249, exon #3, @6, AGA→_ 148: "MLH1" NM_000249, exon #3, @7, G→C 149: "MLH1" NM_000249, exon #3, @7, G→T 150: "MLH1" NM_000249, exon #3, @9, T→C 151: "PTEN" NM_000314, exon #6, @19, C→T 152: "HMGCL" NM_000191, exon #2, @49, G→T 153: "CISD2" NM_001008388, exon #2, @6, G→C 154: "XMRE" NM_005765, exon #4, @21, C→T 155: "LHCGR" NM_000233, exon #10, @26, G→A 156: "PSEN1" NM_000021, exon #9, @3, A→C 157: "DMD" NM_000109.2, exon #38, @109, TTCA→_ 158: "DMD" NM_000109.2, exon #38, @109, T→A 159: "DMD" NM_000109.2, exon #38, @110, T→A 160: "DMD" NM_000109.2, exon #38, @111, C→G 161: "DMD" NM_000109.2, exon #38, @111, C→A 162: "DMD" NM_000109.2, exon #38, @111, C→T 163: "DMD" NM_000109.2, exon #38, @111, C→_ 164: "DMD" NM_000109.2, exon #38, @112, A→T 165: "DMD" NM_000109.2, exon #27, @28, G→T 166: "ITGA2B" NM_000419, exon #27, @101, C→T 167: "PDHA" NM_000284.1, exon #6, @82, G→A 168: "POLG" NM_002693, exon #17, @19, G→T 169: "GLDC" NM_000170, exon #22, @38, C→A 170: "PLP1" NM_000533, exon #3, @218, C→T 171: "PLP1" NM_000533, exon #3, @218, C→G 172: "PDHA" NM_000284.1, exon #5, @65, C→T 173: "PDHA" NM_000284.1, exon #5, @80, C→T 174: "CHRNE" AF105999, exon #7, @12, TGGGCCA→_ 175: "CHRNE" AF105999, exon #6, @32, T→G 176: "SLC25A20" NM_000387, exon #3, @72, C→_

Clear Form

---

↑ Top	ASMD v1.2
This material is based upon work supported by the National Science Foundation under Grant No. 0643542.   Any opinions, findings and conclusions or recommendations expressed in this material are those of the author(s) and do not necessarily reflect the views of the National Science Foundation (NSF).