The UMD-APC mutations database
Splice mutations (<10 bp from exon) (248 records)

    Request ID: 636815779

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
IVS2-1G>C (21-1G>C)	c.IVS2-1G>C (c.221-1G>C)	2-3				Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3998 7_9540812034E081958 Causal - 7
IVS2-2A>G (21-2A>G)	c.IVS2-2A>G (c.221-2A>G)	2-3				Causal	unvalidated	00/00/00	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5847 10_APC-204---3154 P Causal - 10 3191 33_SAT289---09-1432 Causal - 33 3192 33_SAT289---08-206 Causal - 33 3193 33_SAT289---09-1431 Causal - 33 3194 33_SAT289---08-1544 Causal - 33 4042 7_10756911484E091893 Causal - 7
IVS2-1G>A (21-1G>A)	c.IVS2-1G>A (c.221-1G>A)	3				Causal	unvalidated	00/00/00	13
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2590 10_APC-140---213P Causal - 10 3190 33_PSL1416---07-1379 Causal - 33 4254 SO_-1852G00594G00594 Causal - 71 4399 SO_-1852G01319G01319 Causal - 71 4400 SO_-1852G01320G01320 Causal - 71 4401 SO_-1852G01321G01321 Causal - 71 4402 SO_-1852G01322G01322 Causal - 71 5050 SO_-3772G05187G05187 Causal - 71 5249 SO_-4437G06570G06570 Causal - 71 5413 SO_-5414G08326G08326 Causal - 71 5468 SO_-1852G08987G08987 Causal - 71 5469 SO_-5414G09001G09001 Causal - 71 5509 7_-4437ILP0510548E050412 Causal - 7
IVS2-9A>G (21-9A>G)	c.IVS2-9A>G (c.221-9A>G)	3				UV	French MMR network	27/02/15	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2931 19_12713---12713.001 UV - 19 2932 19_12713---12713.002 UV - 19 2933 19_12713---12713.003 UV - 19
IVS3+2T>A (22+2T>A)	c.IVS3+2T>A (c.422+2T>A)	3-4				Causal	unvalidated	00/00/00	13
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3433 37_P09.44-E1269799137 Causal - 37 3434 37_P09.44-E1048494967 Causal - 37 3435 37_P09.44-E1269899138 Causal - 37 3436 37_P09.44-E13852--- Causal - 37 3437 37_P09.44-E13853--- Causal - 37 3642 SO_-347810810 Causal - 71 3643 SO_-347811811 Causal - 71 3644 SO_-347813813 Causal - 71 3645 SO_-347814814 Causal - 71 3646 SO_-347815815 Causal - 71 3647 SO_-347816816 Causal - 71 3648 SO_-347817817 Causal - 71 3649 SO_-347818818 Causal - 71
IVS3-9A>G (23-9A>G)	c.IVS3-9A>G (c.423-9A>G)	3-4				Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5828 19_1271312713.00312713.003 Causal - 19 5827 19_1271312713.00212713.002 Causal - 19 5826 19_1271312713.00112713.001 Causal - 19
IVS4-1G>A (32-1G>A)	c.IVS4-1G>A (c.532-1G>A)	5				Causal	unvalidated	00/00/00	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5753 10_APC-190---2834 P Causal - 10 2893 19_1427---1427.001 Causal - 19 2894 19_1427---1427.003 Causal - 19 4230 SO_-1241G00535G00535 Causal - 71 5081 SO_-613G05320G05320 Causal - 71
IVS4-1insAAAC (32-1insAAAC)	c.IVS4-1insAAAC (c.532-1insAAAC)	5				Causal	French MMR network	25/02/15	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3712 SO_-44812071207 Causal - 71 3713 SO_-44812091209 Causal - 71 3714 SO_-44812121212 Causal - 71 3715 SO_-44812151215 Causal - 71 4451 SO_-448G01594G01594 Causal - 71 5528 7_-448ILP0511099E050781 Causal - 7
IVS4-8G>A (32-8G>A)	c.IVS4-8G>A (c.532-8G>A)	5				Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2928 19_19094---19094.001 Causal - 19 2929 19_19094---19094.003 Causal - 19
IVS5+1G>A (45+1G>A)	c.IVS5+1G>A (c.645+1G>A)	5				Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3539 SO_-17119119 Causal - 71 3540 SO_-17120120 Causal - 71
IVS5-1G>A (46-1G>A)	c.IVS5-1G>A (c.646-1G>A)	6				Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3428 37_P03.01-E1531--- Causal - 37 3429 37_P03.01-E1724--- Causal - 37
IVS5-2A>T (46-2A>T)	c.IVS5-2A>T (c.646-2A>T)	6				Causal	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5788 10_APC-143---3469 P Causal - 10 2592 10_APC-143---1216P Causal - 10 3430 37_P11.027-E16922RNA11660 Causal - 37 4281 SO_-1072G00724G00724 Causal - 71
IVS6-1G>C (30-1G>C)	c.IVS6-1G>C (c.730-1G>C)	7				Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3937 7_5382600161E061323 Causal - 7 3938 7_5382600164E061714 Causal - 7
IVS6-3C>G (30-3C>G)	c.IVS6-3C>G (c.730-3C>G)	7				Causal	unvalidated	00/00/00	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5798 10_APC-85---3485 P Causal - 10 2593 10_APC-068---824P Causal - 10 2594 10_APC-068---1122P Causal - 10 2595 10_APC-085---988P Causal - 10 2596 10_APC-85---2392P Causal - 10 2597 10_APC-85---2395P Causal - 10 3431 37_P08.137303--- Causal - 37
IVS7+1G>A (34+1G>A)	c.IVS7+1G>A (c.834+1G>A)	7				Causal	unvalidated	00/00/00	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2312 4_38945---38945 Causal - 4 3664 SO_-375904904 Causal - 71 3665 SO_-375905905 Causal - 71 3666 SO_-375906906 Causal - 71 3667 SO_-375907907 Causal - 71 4839 SO_-375G04171G04171 Causal - 71 5335 SO_-2968G07509G07509 Causal - 71
IVS7-1G>A (35-1G>A)	c.IVS7-1G>A (c.835-1G>A)	8				Causal	unvalidated	00/00/00	10
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2307 4_31228---31228 Causal - 4 3581 SO_-76315315 Causal - 71 3582 SO_-76316316 Causal - 71 3583 SO_-76322322 Causal - 71 3584 SO_-76324324 Causal - 71 3585 SO_-76328328 Causal - 71 3758 SO_-7622702270 Causal - 71 4813 SO_-76G04054G04054 Causal - 71 4814 SO_-76G04055G04055 Causal - 71 5678 7_-76ILP0710658E060820 Causal - 7
IVS7-3T>C (35-3T>C)	c.IVS7-3T>C (c.835-3T>C)	8				Neutral	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2920 19_17991---17991.001 Neutral - 19 2921 19_17991---17991.001 Neutral - 19
IVS8+1G>A (33+1G>A)	c.IVS8+1G>A (c.933+1G>A)	8				Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5121 SO_-161G05542G05542 Causal - 71
IVS8+2T>C (33+2T>C)	c.IVS8+2T>C (c.933+2T>C)	8				Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4356 SO_-2255G01161G01161 Causal - 71
IVS9+2del (312+2del)	c.IVS9+2del (c.1312+2del)	9-10				Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3203 33_PSL3243---10-1056 Causal - 33
IVS9+3A>G (312+3A>G)	c.IVS9+3A>G (c.1312+3A>G)	9-10				Causal	unvalidated	00/00/00	26
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2313 4_22408---22408 Causal - 4 2314 4_22408---26766 Causal - 4 2315 4_22408---26768 Causal - 4 2316 4_22408---36556 Causal - 4 2317 4_22408---41882 Causal - 4 2318 4_22408---30596 Causal - 4 2602 10_APC-108---1348P Causal - 10 2603 10_APC-108---1431P Causal - 10 2604 10_APC-108---1534P Causal - 10 2605 10_APC-144---1840P Causal - 10 2606 10_APC-172---2346P Causal - 10 3438 37_P98.08198--- Causal - 37 3439 37_P98.08198--- Causal - 37 3624 SO_-292723723 Causal - 71 3625 SO_-292724724 Causal - 71 3626 SO_-292725725 Causal - 71 3730 SO_-29219481948 Causal - 71 3731 SO_-29219501950 Causal - 71 3925 SO_-114185698569 Causal - 71 4190 SO_-1141G00310G00310 Causal - 71 4291 SO_-1141G00798G00798 Causal - 71 4371 SO_-2306G01225G01225 Causal - 71 4372 SO_-2306G01226G01226 Causal - 71 4629 SO_-2827G02661G02661 Causal - 71 5727 10_APC-172---2694 P Causal - 10 5322 SO_-4878G07325G07325 Causal - 71
IVS9+5G>T (312+5G>T)	c.IVS9+5G>T (c.1312+5G>T)	9-10				Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3441 37_P00.02629--- Causal - 37 3442 37_P00.02630--- Causal - 37
IVS10-1G>A (409-1G>A)	c.IVS10-1G>A (c.1409-1G>A)	10-11			ASEF binding domain ARM1	Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3425 37_P00.10825--- Causal - 37
IVS10-1G>C (409-1G>C)	c.IVS10-1G>C (c.1409-1G>C)	10-11			ASEF binding domain ARM1	Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3426 37_P09.48-E1071389246 Causal - 37
IVS10-1G>T (409-1G>T)	c.IVS10-1G>T (c.1409-1G>T)	10-11			ASEF binding domain ARM1	Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5636 7_-6461ILP0611948E070228 Causal - 7
IVS10-2del3 (409-2del3)	c.IVS10-2del3 (c.1409-2del3)	10-11			ASEF binding domain ARM1	Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5231 SO_-4218G06288G06288 Causal - 71
IVS10-3T>G (409-3T>G)	c.IVS10-3T>G (c.1409-3T>G)	10-11			ASEF binding domain ARM1	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4124 SO_-1663G00027G00027 UV - 71
IVS10-5A>G (409-5A>G)	c.IVS10-5A>G (c.1409-5A>G)	10-11			ASEF binding domain ARM1	Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5415 SO_-5443G08360G08360 Causal - 71
IVS10-6A>G (409-6A>G)	c.IVS10-6A>G (c.1409-6A>G)	10-11			ASEF binding domain ARM1	Causal	unvalidated	00/00/00	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2925 19_25083---25083-001 Causal - 19 3196 33_SAT554---10-601 Causal - 33 4926 SO_-802G04527G04527 Causal - 71 4927 SO_-802G04528G04528 Causal - 71 5613 7_-802ILP0611335E061265 Causal - 7 5688 7_-802ILP0711063E071187 Causal - 7
IVS11+1G>A (548+1G>A)	c.IVS11+1G>A (c.1548+1G>A)	11			ASEF binding domain ARM2	Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3198 33_PSL1541---08-283 Causal - 33 3949 7_8159711813E081252 Causal - 7 5300 SO_-4720G07073G07073 Causal - 71
IVS11-8A>C (549-8A>C)	c.IVS11-8A>C (c.1549-8A>C)	12			ASEF binding domain ARM2	Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3197 33_PSL2427---09-528 Causal - 33
IVS11-8A>G (549-8A>G)	c.IVS11-8A>G (c.1549-8A>G)	12				UV	unvalidated	00/00/00	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4098 7_-1381012925E110026 UV - 7 4099 7_100801012926E110025 UV - 7 4312 SO_-138G00915G00915 UV - 71 4313 SO_-138G00918G00918 UV - 71 4330 SO_-138G01036G01036 UV - 71 5437 SO_-138G08713G08713 UV - 71
IVS12+1G>A (626+1G>A)	c.IVS12+1G>A (c.1626+1G>A)	12			ASEF binding domain ARM2	Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3965 7_8548810395E080574 Causal - 7
IVS13+1del (743+1del)	c.IVS13+1del (c.1743+1del)	13			ASEF binding domain ARM3	Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4866 SO_-440G04232G04232 Causal - 71 4867 SO_-440G04234G04234 Causal - 71
IVS13+1G>C (743+1G>C)	c.IVS13+1G>C (c.1743+1G>C)	13			ASEF binding domain ARM3	Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2308 4_29379---30963,29379 Causal - 4
IVS13+1G>T (743+1G>T)	c.IVS13+1G>T (c.1743+1G>T)	13			ASEF binding domain ARM3	Causal	unvalidated	00/00/00	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5773 37_P13.19-E23248143095 Causal - 37 5785 37_P13.19-E27412158653 Causal - 37 5786 37_P13.19-E27413158651 Causal - 37 5792 10_APC-217---3457 P Causal - 10 3857 SO_-53146654665 Causal - 71 4292 SO_-531G00813G00813 Causal - 71 4473 SO_-531G01636G01636 Causal - 71
IVS13-1G>C (744-1G>C)	c.IVS13-1G>C (c.1744-1G>C)	14			ASEF binding domain ARM3	Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3427 37_P08.01673364032 Causal - 37
IVS14+1del (958+1del)	c.IVS14+1del (c.1958+1del)	14-15			ASEF binding domain ARM5	Causal	unvalidated	00/00/00	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4078 7_-22131011515E102216 Causal - 7 4336 SO_-2213G01060G01060 Causal - 71 4628 SO_-2793G02654G02654 Causal - 71 5293 SO_-2793G07031G07031 Causal - 71 5294 SO_-2793G07032G07032 Causal - 71
IVS14+1G>A (958+1G>A)	c.IVS14+1G>A (c.1958+1G>A)	14-15			ASEF binding domain ARM5	Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2936 19_1155---1155.001 Causal - 19 4233 SO_-1256G00543G00543 Causal - 71 5245 SO_-1256G06482G06482 Causal - 71
IVS14+1G>T (958+1G>T)	c.IVS14+1G>T (c.1958+1G>T)	14-15			ASEF binding domain ARM5	Causal	unvalidated	00/00/00	64
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2309 4_31409---31409 Causal - 4 2310 4_31409---31393 Causal - 4 2311 4_31409---31408 Causal - 4 2601 10_APC-179---2619P Causal - 10 3199 33_SAT332/PSL238---08-829 Causal - 33 3200 33_SAT332/PSL238---05-292 Causal - 33 3201 33_SAT537---10-275 Causal - 33 3202 33_SAT537---10-277 Causal - 33 3579 SO_-430310310 Causal - 71 3702 SO_-43011391139 Causal - 71 3703 SO_-43011441144 Causal - 71 3778 SO_-43029132913 Causal - 71 3881 SO_-43059135913 Causal - 71 3945 7_7273711466E071752 Causal - 7 4009 7_-430813124E090142 Causal - 7 4016 7_-430910035E090199 Causal - 7 4079 7_72731011588E101556 Causal - 7 4139 SO_-430G00083G00083 Causal - 71 4246 SO_-207G00572G00572 Causal - 71 4315 SO_-430G00923G00923 Causal - 71 4316 SO_-430G00925G00925 Causal - 71 4388 SO_-430G01277G01277 Causal - 71 4389 SO_-430G01278G01278 Causal - 71 4390 SO_-430G01279G01279 Causal - 71 4445 SO_-430G01584G01584 Causal - 71 4636 SO_-430G02683G02683 Causal - 71 4637 SO_-430G02684G02684 Causal - 71 4650 SO_-2882G02803G02803 Causal - 71 4651 SO_-2882G02804G02804 Causal - 71 4686 SO_-3038G03049G03049 Causal - 71 4697 SO_-430G03136G03136 Causal - 71 4698 SO_-430G03138G03138 Causal - 71 4787 SO_-430G03856G03856 Causal - 71 4788 SO_-430G03857G03857 Causal - 71 4845 SO_-430G04185G04185 Causal - 71 4846 SO_-430G04192G04192 Causal - 71 4847 SO_-430G04195G04195 Causal - 71 4848 SO_-430G04206G04206 Causal - 71 4849 SO_-430G04208G04208 Causal - 71 4850 SO_-430G04209G04209 Causal - 71 4851 SO_-430G04210G04210 Causal - 71 4852 SO_-430G04212G04212 Causal - 71 4853 SO_-430G04213G04213 Causal - 71 4854 SO_-430G04214G04214 Causal - 71 4855 SO_-430G04215G04215 Causal - 71 4856 SO_-430G04216G04216 Causal - 71 4857 SO_-430G04217G04217 Causal - 71 4858 SO_-430G04220G04220 Causal - 71 4859 SO_-430G04221G04221 Causal - 71 4860 SO_-430G04224G04224 Causal - 71 4861 SO_-430G04226G04226 Causal - 71 4862 SO_-430G04227G04227 Causal - 71 4863 SO_-430G04228G04228 Causal - 71 4864 SO_-430G04229G04229 Causal - 71 4865 SO_-430G04230G04230 Causal - 71 4950 SO_-3581G04664G04664 Causal - 71 4955 SO_-207G04714G04714 Causal - 71 5732 10_APC-189---2761 P Causal - 10 5176 SO_-430G05706G05706 Causal - 71 5210 SO_-430G06019G06019 Causal - 71 5485 7_-5816ILP0411732E041226 Causal - 7 5489 7_-430ILP0411813E041056 Causal - 7 5554 7_-3038ILP0512070E051112 Causal - 7 5700 7_-430ILP0711644--- Causal - 7
IVS14+2T>C (958+2T>C)	c.IVS14+2T>C (c.1958+2T>C)	14-15			ASEF binding domain ARM5	Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4514 SO_-1027G01814G01814 Causal - 71 4584 SO_-1027G02369G02369 Causal - 71 4585 SO_-1027G02372G02372 Causal - 71
IVS14+3A>G (958+3A>G)	c.IVS14+3A>G (c.1958+3A>G)	14-15			ASEF binding domain ARM5	Likely Causal	unvalidated	00/00/00	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2607 10_APC-097---1175P Likely Causal - 10 2608 10_APC-97---1992P Likely Causal - 10 2609 10_APC-97---1994P Likely Causal - 10 2610 10_APC-97---2082P Likely Causal - 10 2940 19_11978---11978.001 Likely Causal - 19 4981 SO_-985G04825G04825 Likely Causal - 71 5541 7_-772ILP0511475E050960 Likely Causal - 7
IVS14+8T>C (958+8T>C)	c.IVS14+8T>C (c.1958+8T>C)	14-15			ASEF binding domain ARM5	Neutral	unvalidated	00/00/00	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2319 4_32922---32922 Neutral - 4 2962 19_21206---21206-001 Neutral - 19 2963 19_8609---8609.001 Neutral - 19 2964 19_11618---11618.001 Neutral - 19 3206 33_PSL2326---09-257 Neutral - 33 5272 SO_-4541G06823G06823 Neutral - 71
IVS14-1G>A (959-1G>A)	c.IVS14-1G>A (c.1959-1G>A)	14-15			ASEF binding domain ARM5	Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3704 SO_-43411661166 Causal - 71 3705 SO_-43411671167 Causal - 71 4446 SO_-434G01587G01587 Causal - 71
IVS14-6T>G (959-6T>G)	c.IVS14-6T>G (c.1959-6T>G)	14-15				Causal	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2598 10_APC-079---920P Causal - 10 2599 10_APC-79---2394P Causal - 10 2600 10_APC-79---2395P Causal - 10 3432 37_P08.23-E7368RNA-69334 Causal - 37