All transcript variants in gene MSH3

Information The variants shown are described using the NM_002439.4 transcript reference sequence.

223 entries on 3 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-50C>T r.(=) p.(=) g.79950497C>T Copied from the Exome Variant Server DHFR_000025 3178/12098 2097/8008 1081/4090
?/? c.-39C>T r.(=) p.(=) g.79950508C>T Copied from the Exome Variant Server DHFR_000026 1505/12480 1332/8244 173/4236
?/? c.-35A>G r.(=) p.(=) g.79950512A>G Copied from the Exome Variant Server DHFR_000027 9608/12628 5694/8344 3914/4284
?/? c.-12C>G r.(=) p.(=) g.79950535C>G Copied from the Exome Variant Server DHFR_000028 5/12916 0/8544 5/4372
?/? c.16C>T r.(?) p.(Pro6Ser) g.79950562C>T Copied from the Exome Variant Server DHFR_000029 2/12970 2/8580 0/4390
?/? c.21G>A r.(=) p.(=) g.79950567G>A Copied from the Exome Variant Server DHFR_000030 92/12972 67/8580 25/4392
?/? c.26G>A r.(?) p.(Gly9Asp) g.79950572G>A Copied from the Exome Variant Server DHFR_000031 1/12970 0/8580 1/4390
?/? c.31C>G r.(?) p.(Leu11Val) g.79950577C>G Copied from the Exome Variant Server DHFR_000032 1/12976 1/8586 0/4390
?/? c.96A>C r.(=) p.(=) g.79950642A>C Copied from the Exome Variant Server DHFR_000033 3/12996 3/8592 0/4404
?/? c.111C>T r.(=) p.(=) g.79950657C>T Copied from the Exome Variant Server DHFR_000034 1/12994 1/8590 0/4404
?/? c.114C>G r.(=) p.(=) g.79950660C>G Copied from the Exome Variant Server DHFR_000035 2/12992 2/8590 0/4402
?/? c.129A>G r.(=) p.(=) g.79950675A>G Copied from the Exome Variant Server DHFR_000036 3/12988 0/8590 3/4398
?/? c.151_159del r.(?) p.(Ala60_Ala62del) g.79950697_79950705del Copied from the Exome Variant Server DHFR_000037 3543/11968 2250/7896 1293/4072
?/? c.151_159dup r.(?) p.(Ala60_Ala62dup) g.79950697_79950705dup Copied from the Exome Variant Server DHFR_000038 92/11968 76/7896 16/4072
?/? c.154_171del r.(?) p.(Ala57_Ala62del) g.79950700_79950717del Copied from the Exome Variant Server DHFR_000039 3352/12008 2199/7922 1153/4086
?/? c.163_171del r.(?) p.(Ala60_Ala62del) g.79950709_79950717del Copied from the Exome Variant Server DHFR_000040 2082/10530 1241/6990 841/3540
?/? c.164_190del r.(?) p.(Ala57_Ala65del) g.79950710_79950736del Copied from the Exome Variant Server DHFR_000041 266/11656 186/7704 80/3952
?/? c.169_186del r.(?) p.(Ala57_Ala62del) g.79950715_79950732del Copied from the Exome Variant Server DHFR_000042 2370/11656 1563/7704 807/3952
?/? c.181_189dup r.(?) p.(Ala61_Pro63dup) g.79950727_79950735dup Copied from the Exome Variant Server DHFR_000043 788/10836 610/7112 178/3724
?/? c.182_208del r.(?) p.(Ala62_Ala70del) g.79950728_79950754del Copied from the Exome Variant Server DHFR_000044 69/10836 53/7112 16/3724
?/? c.195_203del r.(?) p.(Pro67_Pro69del) g.79950741_79950749del Copied from the Exome Variant Server DHFR_000045 1717/10836 1081/7112 636/3724
?/? c.195_203dup r.(?) p.(Pro67_Pro69dup) g.79950741_79950749dup Copied from the Exome Variant Server DHFR_000046 494/10836 58/7112 436/3724
?/? c.196_204del r.(?) p.(Pro67_Pro69del) g.79950742_79950750del Copied from the Exome Variant Server DHFR_000047 3046/9840 1941/6556 1105/3284
?/? c.238-8C>G r.(=) p.(=) g.79952222C>G Copied from the Exome Variant Server MSH3_000006 1/13006 0/8600 1/4406
?/? c.238-3T>C r.spl? p.? g.79952227T>C Copied from the Exome Variant Server MSH3_000008 1/13006 1/8600 0/4406
?/? c.285G>T r.(=) p.(=) g.79952277G>T Copied from the Exome Variant Server MSH3_000010 2/13006 0/8600 2/4406
?/? c.287C>T r.(?) p.(Pro96Leu) g.79952279C>T Copied from the Exome Variant Server MSH3_000012 1/13006 0/8600 1/4406
?/? c.316C>G r.(?) p.(Gln106Glu) g.79952308C>G Copied from the Exome Variant Server MSH3_000014 2/13006 2/8600 0/4406
?/? c.345G>T r.(?) p.(Met115Ile) g.79952337G>T Copied from the Exome Variant Server MSH3_000016 1/13006 0/8600 1/4406
?/? c.353A>T r.(?) p.(Asn118Ile) g.79952345A>T Copied from the Exome Variant Server MSH3_000001 2/13006 1/8600 1/4406
?/? c.358+14G>A r.(=) p.(=) g.79952364G>A Copied from the Exome Variant Server MSH3_000002 1/13006 0/8600 1/4406
?/? c.358+25C>T r.(=) p.(=) g.79952375C>T Copied from the Exome Variant Server MSH3_000003 13/13006 0/8600 13/4406
?/? c.358+40T>C r.(=) p.(=) g.79952390T>C Copied from the Exome Variant Server MSH3_000004 3679/13006 2431/8600 1248/4406
?/? c.358+52G>T r.(=) p.(=) g.79952402G>T Copied from the Exome Variant Server MSH3_000005 1/7272 1/4618 0/2654
?/? c.359-51A>T r.(=) p.(=) g.79960911A>T Copied from the Exome Variant Server MSH3_000007 1/12976 0/8590 1/4386
?/? c.359-33A>G r.(=) p.(=) g.79960929A>G Copied from the Exome Variant Server MSH3_000009 5/13000 5/8598 0/4402
?/? c.359-22_359-20del r.(=) p.(=) g.79960940_79960942del Copied from the Exome Variant Server MSH3_000011 3/12514 2/8252 1/4262
?/? c.359-7G>A r.(=) p.(=) g.79960955G>A Copied from the Exome Variant Server MSH3_000013 3960/13004 2478/8600 1482/4404
?/? c.386A>G r.(?) p.(Asn129Ser) g.79960989A>G Copied from the Exome Variant Server MSH3_000015 1/13006 0/8600 1/4406
?/? c.409T>C r.(=) p.(=) g.79961012T>C Copied from the Exome Variant Server MSH3_000017 2/13006 2/8600 0/4406
?/? c.421T>C r.(?) p.(Cys141Arg) g.79961024T>C Copied from the Exome Variant Server MSH3_000018 1/13006 0/8600 1/4406
?/? c.427G>A r.(?) p.(Asp143Asn) g.79961030G>A Copied from the Exome Variant Server MSH3_000019 2/13006 0/8600 2/4406
?/? c.438T>G r.(=) p.(=) g.79961041T>G Copied from the Exome Variant Server MSH3_000020 1/13006 0/8600 1/4406
?/? c.528C>T r.(=) p.(=) g.79961131C>T Copied from the Exome Variant Server MSH3_000021 1/13006 0/8600 1/4406
?/? c.529G>A r.(?) p.(Ala177Thr) g.79961132G>A Copied from the Exome Variant Server MSH3_000022 1/13006 0/8600 1/4406
?/? c.554A>G r.(?) p.(Asp185Gly) g.79961157A>G Copied from the Exome Variant Server MSH3_000023 4/13004 0/8600 4/4404
?/? c.562C>T r.(?) p.(Arg188Cys) g.79961165C>T Copied from the Exome Variant Server MSH3_000024 1/13004 1/8600 0/4404
?/? c.574C>T r.(?) p.(Gln192*) g.79961177C>T Copied from the Exome Variant Server MSH3_000025 2/13004 2/8600 0/4404
?/? c.579+11G>T r.(=) p.(=) g.79961193G>T Copied from the Exome Variant Server MSH3_000026 1/13004 1/8600 0/4404
?/? c.580-46A>T r.(=) p.(=) g.79965870A>T Copied from the Exome Variant Server MSH3_000027 1/12980 1/8594 0/4386
?/? c.585del r.(?) p.(Thr196Hisfs*37) g.79965921del Copied from the Exome Variant Server MSH3_000028 5/12520 2/8254 3/4266
?/? c.672G>T r.(=) p.(=) g.79966008G>T Copied from the Exome Variant Server MSH3_000029 2/13006 0/8600 2/4406
?/? c.692C>T r.(?) p.(Pro231Leu) g.79966028C>T Copied from the Exome Variant Server MSH3_000030 3/13006 0/8600 3/4406
?/? c.693G>A r.(=) p.(=) g.79966029G>A Copied from the Exome Variant Server MSH3_000031 1321/13006 524/8600 797/4406
?/? c.696A>C r.(=) p.(=) g.79966032A>C Copied from the Exome Variant Server MSH3_000032 1/13006 1/8600 0/4406
?/? c.703C>T r.(?) p.(Gln235*) g.79966039C>T Copied from the Exome Variant Server MSH3_000033 1/13006 1/8600 0/4406
?/? c.711A>G r.(?) p.(Ile237Met) g.79966047A>G Copied from the Exome Variant Server MSH3_000034 1/13006 1/8600 0/4406
?/? c.792+7C>T r.(=) p.(=) g.79966135C>T Copied from the Exome Variant Server MSH3_000035 1/13006 1/8600 0/4406
?/? c.792+8G>A r.(=) p.(=) g.79966136G>A Copied from the Exome Variant Server MSH3_000036 19/13006 0/8600 19/4406
?/? c.792+50G>A r.(=) p.(=) g.79966178G>A Copied from the Exome Variant Server MSH3_000037 504/12986 453/8596 51/4390
?/? c.808C>T r.(?) p.(Leu270Phe) g.79968078C>T Copied from the Exome Variant Server MSH3_000038 1/13006 1/8600 0/4406
?/? c.845C>T r.(?) p.(Thr282Ile) g.79968115C>T Copied from the Exome Variant Server MSH3_000039 1/13006 1/8600 0/4406
?/? c.909+50_909+51del r.(=) p.(=) g.79968229_79968230del Copied from the Exome Variant Server MSH3_000040 1/12520 1/8254 0/4266
?/? c.909+51G>T r.(=) p.(=) g.79968230G>T Copied from the Exome Variant Server MSH3_000041 1/13006 1/8600 0/4406
?/? c.951C>A r.(=) p.(=) g.79968601C>A Copied from the Exome Variant Server MSH3_000042 8/13006 0/8600 8/4406
?/? c.953T>C r.(?) p.(Ile318Thr) g.79968603T>C Copied from the Exome Variant Server MSH3_000043 2/13006 1/8600 1/4406
?/? c.1027+15C>T r.(=) p.(=) g.79968692C>T Copied from the Exome Variant Server MSH3_000044 1/13006 0/8600 1/4406
?/? c.1027+16G>A r.(=) p.(=) g.79968693G>A Copied from the Exome Variant Server MSH3_000045 1/13006 1/8600 0/4406
?/? c.1051G>A r.(?) p.(Asp351Asn) g.79970825G>A Copied from the Exome Variant Server MSH3_000046 1/13006 1/8600 0/4406
?/? c.1085A>C r.(?) p.(Asp362Ala) g.79970859A>C Copied from the Exome Variant Server MSH3_000047 1/13006 1/8600 0/4406
?/? c.1122T>G r.(?) p.(Asn374Lys) g.79970896T>G Copied from the Exome Variant Server MSH3_000048 2/13006 0/8600 2/4406
?/? c.1144A>T r.(?) p.(Lys382*) g.79970918A>T Copied from the Exome Variant Server MSH3_000049 1/13006 0/8600 1/4406
?/? c.1160T>A r.(?) p.(Phe387Tyr) g.79970934T>A Copied from the Exome Variant Server MSH3_000051 11/13004 0/8598 11/4406
?/? c.1163T>C r.(?) p.(Ile388Thr) g.79970937T>C Copied from the Exome Variant Server MSH3_000053 1/13004 0/8598 1/4406
?/? c.1173+11T>C r.(=) p.(=) g.79970958T>C Copied from the Exome Variant Server MSH3_000055 1/13006 0/8600 1/4406
?/? c.1173+12G>A r.(=) p.(=) g.79970959G>A Copied from the Exome Variant Server MSH3_000058 1/13006 1/8600 0/4406
?/? c.1174-12A>G r.(=) p.(=) g.79974734A>G Copied from the Exome Variant Server MSH3_000059 2/13006 2/8600 0/4406
?/? c.1194C>T r.(=) p.(=) g.79974766C>T Copied from the Exome Variant Server MSH3_000062 4/13006 4/8600 0/4406
?/? c.1249C>T r.(?) p.(Arg417Trp) g.79974821C>T Copied from the Exome Variant Server MSH3_000063 6/13006 0/8600 6/4406
?/? c.1296G>T r.(?) p.(Leu432Phe) g.79974868G>T Copied from the Exome Variant Server MSH3_000050 1/13006 1/8600 0/4406
?/? c.1313C>T r.(?) p.(Ala438Val) g.79974885C>T Copied from the Exome Variant Server MSH3_000052 14/13006 0/8600 14/4406
?/? c.1316T>C r.(?) p.(Leu439Pro) g.79974888T>C Copied from the Exome Variant Server MSH3_000054 1/13006 0/8600 1/4406
?/? c.1340+32G>A r.(=) p.(=) g.79974944G>A Copied from the Exome Variant Server MSH3_000056 1/13006 1/8600 0/4406
?/? c.1341-45T>C r.(=) p.(=) g.80021227T>C Copied from the Exome Variant Server MSH3_000057 1/13006 1/8600 0/4406
?/? c.1341-29A>G r.(=) p.(=) g.80021243A>G Copied from the Exome Variant Server MSH3_000060 1/13006 0/8600 1/4406
?/? c.1361G>A r.(?) p.(Arg454Gln) g.80021292G>A Copied from the Exome Variant Server MSH3_000061 1/13006 1/8600 0/4406
?/? c.1379A>C r.(?) p.(Asn460Thr) g.80021310A>C Copied from the Exome Variant Server MSH3_000064 1/13006 1/8600 0/4406
?/? c.1394A>G r.(?) p.(Tyr465Cys) g.80021325A>G Copied from the Exome Variant Server MSH3_000065 3/13006 3/8600 0/4406
?/? c.1453+15T>C r.(=) p.(=) g.80021399T>C Copied from the Exome Variant Server MSH3_000066 14/13006 13/8600 1/4406
?/? c.1461A>C r.(?) p.(Gln487His) g.80024677A>C Copied from the Exome Variant Server MSH3_000067 1/12994 1/8596 0/4398
?/? c.1469C>A r.(?) p.(Ser490Tyr) g.80024685C>A Copied from the Exome Variant Server MSH3_000068 24/12998 0/8598 24/4400
?/? c.1522A>G r.(?) p.(Lys508Glu) g.80024738A>G Copied from the Exome Variant Server MSH3_000069 13/13006 0/8600 13/4406
?/? c.1558del r.(?) p.(Ser520Profs*16) g.80024774del Copied from the Exome Variant Server MSH3_000070 1/12508 0/8252 1/4256
?/? c.1567G>A r.(?) p.(Glu523Lys) g.80024783G>A Copied from the Exome Variant Server MSH3_000071 103/13002 1/8598 102/4404
?/? c.1568+28_1568+29insAAG r.(=) p.(=) g.80024812_80024813insAAG Copied from the Exome Variant Server MSH3_000072 82/12486 40/8248 42/4238
?/? c.1571A>C r.(?) p.(Asn524Thr) g.80037285A>C Copied from the Exome Variant Server MSH3_000073 30/12998 0/8596 30/4402
?/? c.1623_1624insT r.(?) p.(Leu542Phefs*12) g.80037337_80037338insT Copied from the Exome Variant Server MSH3_000074 1/12516 0/8250 1/4266
?/? c.1644A>G r.(=) p.(=) g.80037358A>G Copied from the Exome Variant Server MSH3_000075 1/13000 1/8594 0/4406
?/? c.1653+4A>G r.spl? p.? g.80037371A>G Copied from the Exome Variant Server MSH3_000076 1/13000 0/8594 1/4406
?/? c.1653+33A>G r.(=) p.(=) g.80037400A>G Copied from the Exome Variant Server MSH3_000077 1/12996 0/8590 1/4406
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