Unique variants in gene CLGN

Information The variants shown are described using the NM_004362.2 transcript reference sequence.

122 entries on 2 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.25T>G r.(?) p.(Cys9Gly) g.141334208A>C Copied from the Exome Variant Server CLGN_000122 1/13002 1/8596 0/4406
1 c.27T>A r.(?) p.(Cys9*) g.141334206A>T Copied from the Exome Variant Server CLGN_000121 2/13002 2/8596 0/4406
1 c.82A>G r.(?) p.(Thr28Ala) g.141334151T>C Copied from the Exome Variant Server CLGN_000120 1/13004 0/8598 1/4406
1 c.83C>T r.(?) p.(Thr28Met) g.141334150G>A Copied from the Exome Variant Server CLGN_000119 2/13004 1/8598 1/4406
1 c.84G>A r.(=) p.(=) g.141334149C>T Copied from the Exome Variant Server CLGN_000118 2/13004 0/8598 2/4406
1 c.115G>T r.(?) p.(Asp39Tyr) g.141334118C>A Copied from the Exome Variant Server CLGN_000117 1/13002 0/8598 1/4404
1 c.218+15_218+16insTTCA r.(=) p.(=) g.141331691_141331692insTGAA Copied from the Exome Variant Server CLGN_000116 1/12498 0/8232 1/4266
1 c.219-19T>C r.(=) p.(=) g.141331068A>G Copied from the Exome Variant Server CLGN_000115 1/12982 1/8578 0/4404
1 c.223G>T r.(?) p.(Val75Phe) g.141331045C>A Copied from the Exome Variant Server CLGN_000114 3/12988 0/8584 3/4404
1 c.224T>C r.(?) p.(Val75Ala) g.141331044A>G Copied from the Exome Variant Server CLGN_000113 2/12988 2/8584 0/4404
1 c.269T>C r.(?) p.(Ile90Thr) g.141330999A>G Copied from the Exome Variant Server CLGN_000112 1/12990 0/8588 1/4402
1 c.274G>A r.(?) p.(Asp92Asn) g.141330994C>T Copied from the Exome Variant Server CLGN_000111 1/12988 0/8586 1/4402
1 c.277+25A>G r.(=) p.(=) g.141330966T>C Copied from the Exome Variant Server CLGN_000110 3/12972 2/8574 1/4398
1 c.277+28T>C r.(=) p.(=) g.141330963A>G Copied from the Exome Variant Server CLGN_000109 345/12972 308/8576 37/4396
1 c.277+34G>T r.(=) p.(=) g.141330957C>A Copied from the Exome Variant Server CLGN_000108 1/12970 0/8574 1/4396
1 c.278-43A>G r.(=) p.(=) g.141327280T>C Copied from the Exome Variant Server CLGN_000107 48/12982 1/8592 47/4390
1 c.309C>A r.(?) p.(Asn103Lys) g.141327206G>T Copied from the Exome Variant Server CLGN_000106 1/13004 1/8598 0/4406
1 c.313G>C r.(?) p.(Val105Leu) g.141327202C>G Copied from the Exome Variant Server CLGN_000105 1/13004 1/8598 0/4406
1 c.363A>G r.(=) p.(=) g.141327152T>C Copied from the Exome Variant Server CLGN_000104 1/13006 1/8600 0/4406
1 c.364A>G r.(?) p.(Ile122Val) g.141327151T>C Copied from the Exome Variant Server CLGN_000103 1/13006 1/8600 0/4406
1 c.365T>C r.(?) p.(Ile122Thr) g.141327150A>G Copied from the Exome Variant Server CLGN_000102 1/13006 1/8600 0/4406
1 c.366A>G r.(?) p.(Ile122Met) g.141327149T>C Copied from the Exome Variant Server CLGN_000101 1/13006 1/8600 0/4406
1 c.377T>G r.(?) p.(Leu126*) g.141327138A>C Copied from the Exome Variant Server CLGN_000100 1/13006 1/8600 0/4406
1 c.419+11C>T r.(=) p.(=) g.141327085G>A Copied from the Exome Variant Server CLGN_000099 10/13006 10/8600 0/4406
1 c.419+43A>G r.(=) p.(=) g.141327053T>C Copied from the Exome Variant Server CLGN_000098 1/13002 1/8598 0/4404
1 c.420-49C>T r.(=) p.(=) g.141323269G>A Copied from the Exome Variant Server CLGN_000097 836/12924 396/8536 440/4388
1 c.420-29G>T r.(=) p.(=) g.141323249C>A Copied from the Exome Variant Server CLGN_000096 1/12966 1/8564 0/4402
1 c.420-23C>T r.(=) p.(=) g.141323243G>A Copied from the Exome Variant Server CLGN_000095 1/12970 0/8568 1/4402
1 c.420-22G>A r.(=) p.(=) g.141323242C>T Copied from the Exome Variant Server CLGN_000094 2/12970 2/8568 0/4402
1 c.440A>T r.(?) p.(Asp147Val) g.141323200T>A Copied from the Exome Variant Server CLGN_000093 16/12956 0/8554 16/4402
1 c.459T>C r.(=) p.(=) g.141323181A>G Copied from the Exome Variant Server CLGN_000092 1/12968 1/8564 0/4404
1 c.478G>T r.(?) p.(Ala160Ser) g.141323162C>A Copied from the Exome Variant Server CLGN_000091 789/12974 405/8570 384/4404
1 c.485C>T r.(?) p.(Thr162Ile) g.141323155G>A Copied from the Exome Variant Server CLGN_000090 2/12972 0/8568 2/4404
1 c.501+14A>T r.(=) p.(=) g.141323125T>A Copied from the Exome Variant Server CLGN_000089 1/12910 0/8530 1/4380
1 c.502-52A>G r.(=) p.(=) g.141321755T>C Copied from the Exome Variant Server CLGN_000088 1/7262 1/4608 0/2654
1 c.502-17C>T r.(=) p.(=) g.141321720G>A Copied from the Exome Variant Server CLGN_000087 1/13002 1/8598 0/4404
1 c.502-9T>C r.(=) p.(=) g.141321712A>G Copied from the Exome Variant Server CLGN_000086 1/13002 0/8598 1/4404
1 c.555T>C r.(=) p.(=) g.141321650A>G Copied from the Exome Variant Server CLGN_000085 73/13002 0/8596 73/4406
1 c.616G>A r.(?) p.(Glu206Lys) g.141321589C>T Copied from the Exome Variant Server CLGN_000082 16/13006 0/8600 16/4406
1 c.632A>C r.(?) p.(Lys211Thr) g.141321573T>G Copied from the Exome Variant Server CLGN_000080 1/13006 1/8600 0/4406
1 c.694+1G>T r.spl? p.? g.141321510C>A Copied from the Exome Variant Server CLGN_000078 6/13006 6/8600 0/4406
1 c.694+5_694+6insTATA r.spl? p.? g.141321505_141321506insTATA Copied from the Exome Variant Server CLGN_000076 1/12520 1/8254 0/4266
1 c.694+19_694+20insCAT r.(=) p.(=) g.141321491_141321492insATG Copied from the Exome Variant Server CLGN_000074 1/12520 0/8254 1/4266
1 c.694+35T>C r.(=) p.(=) g.141321476A>G Copied from the Exome Variant Server CLGN_000072 1/13006 1/8600 0/4406
1 c.694+49T>A r.(=) p.(=) g.141321462A>T Copied from the Exome Variant Server CLGN_000070 197/13004 0/8598 197/4406
1 c.695-45G>A r.(=) p.(=) g.141320239C>T Copied from the Exome Variant Server CLGN_000069 1/13000 0/8600 1/4400
1 c.695-9G>A r.(=) p.(=) g.141320203C>T Copied from the Exome Variant Server CLGN_000066 1/13006 1/8600 0/4406
1 c.695-1G>A r.spl? p.? g.141320195C>T Copied from the Exome Variant Server CLGN_000064 1/13006 1/8600 0/4406
1 c.731A>G r.(?) p.(Asp244Gly) g.141320158T>C Copied from the Exome Variant Server CLGN_000084 1/13006 1/8600 0/4406
1 c.737C>G r.(?) p.(Thr246Arg) g.141320152G>C Copied from the Exome Variant Server CLGN_000083 1/13006 0/8600 1/4406
1 c.748A>G r.(?) p.(Lys250Glu) g.141320141T>C Copied from the Exome Variant Server CLGN_000081 4/13006 0/8600 4/4406
1 c.759C>T r.(=) p.(=) g.141320130G>A Copied from the Exome Variant Server CLGN_000079 152/13006 143/8600 9/4406
1 c.795A>G r.(=) p.(=) g.141320094T>C Copied from the Exome Variant Server CLGN_000077 2/13006 0/8600 2/4406
1 c.808C>T r.(?) p.(Pro270Ser) g.141320081G>A Copied from the Exome Variant Server CLGN_000075 218/13006 201/8600 17/4406
1 c.843_844del r.(?) p.(Arg281Serfs*5) g.141320045_141320046del Copied from the Exome Variant Server CLGN_000073 22/12520 12/8254 10/4266
1 c.868G>A r.(?) p.(Val290Ile) g.141320021C>T Copied from the Exome Variant Server CLGN_000071 799/13006 409/8600 390/4406
1 c.885-29A>T r.(=) p.(=) g.141317388T>A Copied from the Exome Variant Server CLGN_000068 1/13006 0/8600 1/4406
1 c.885G>A r.(?) p.(Trp295*) g.141317359C>T Copied from the Exome Variant Server CLGN_000067 1/13006 1/8600 0/4406
1 c.910G>T r.(?) p.(Glu304*) g.141317334C>A Copied from the Exome Variant Server CLGN_000065 1/13006 1/8600 0/4406
1 c.958A>G r.(?) p.(Lys320Glu) g.141317286T>C Copied from the Exome Variant Server CLGN_000063 1/13006 0/8600 1/4406
1 c.998+2T>G r.spl? p.? g.141317244A>C Copied from the Exome Variant Server CLGN_000062 1/13006 0/8600 1/4406
1 c.998+15T>C r.(=) p.(=) g.141317231A>G Copied from the Exome Variant Server CLGN_000061 1/13006 1/8600 0/4406
1 c.998+26C>T r.(=) p.(=) g.141317220G>A Copied from the Exome Variant Server CLGN_000060 874/13006 409/8600 465/4406
1 c.998+27G>A r.(=) p.(=) g.141317219C>T Copied from the Exome Variant Server CLGN_000059 1/13006 0/8600 1/4406
1 c.998+49C>T r.(=) p.(=) g.141317197G>A Copied from the Exome Variant Server CLGN_000058 2/13006 2/8600 0/4406
1 c.998+50A>G r.(=) p.(=) g.141317196T>C Copied from the Exome Variant Server CLGN_000057 1/13006 1/8600 0/4406
1 c.1010C>T r.(?) p.(Thr337Met) g.141317112G>A Copied from the Exome Variant Server CLGN_000056 1/13006 1/8600 0/4406
1 c.1011G>A r.(=) p.(=) g.141317111C>T Copied from the Exome Variant Server CLGN_000055 2/13006 2/8600 0/4406
1 c.1017A>G r.(=) p.(=) g.141317105T>C Copied from the Exome Variant Server CLGN_000054 1/13006 1/8600 0/4406
1 c.1054C>T r.(?) p.(Arg352Trp) g.141317068G>A Copied from the Exome Variant Server CLGN_000053 874/13006 696/8600 178/4406
1 c.1055G>A r.(?) p.(Arg352Gln) g.141317067C>T Copied from the Exome Variant Server CLGN_000051 1/13006 0/8600 1/4406
1 c.1102T>C r.(?) p.(Tyr368His) g.141317020A>G Copied from the Exome Variant Server CLGN_000049 1/13006 1/8600 0/4406
1 c.1119A>T r.(?) p.(Arg373Ser) g.141317003T>A Copied from the Exome Variant Server CLGN_000047 1/13006 1/8600 0/4406
1 c.1124C>T r.(?) p.(Pro375Leu) g.141316998G>A Copied from the Exome Variant Server CLGN_000052 1/13006 0/8600 1/4406
1 c.1132G>A r.(?) p.(Asp378Asn) g.141316990C>T Copied from the Exome Variant Server CLGN_000050 1/13006 1/8600 0/4406
1 c.1149+10G>A r.(=) p.(=) g.141316963C>T Copied from the Exome Variant Server CLGN_000048 32/13006 26/8600 6/4406
1 c.1150-24T>C r.(=) p.(=) g.141315219A>G Copied from the Exome Variant Server CLGN_000046 4/12860 4/8552 0/4308
1 c.1160G>A r.(?) p.(Ser387Asn) g.141315185C>T Copied from the Exome Variant Server CLGN_000045 1/13000 1/8600 0/4400
1 c.1166G>A r.(?) p.(Arg389Gln) g.141315179C>T Copied from the Exome Variant Server CLGN_000044 1/13000 1/8600 0/4400
1 c.1171A>G r.(?) p.(Ile391Val) g.141315174T>C Copied from the Exome Variant Server CLGN_000043 1/13004 0/8600 1/4404
1 c.1193A>C r.(?) p.(Glu398Ala) g.141315152T>G Copied from the Exome Variant Server CLGN_000042 26/13006 24/8600 2/4406
1 c.1196A>G r.(?) p.(Asp399Gly) g.141315149T>C Copied from the Exome Variant Server CLGN_000041 1/13006 0/8600 1/4406
1 c.1234G>T r.(?) p.(Gly412Cys) g.141315111C>A Copied from the Exome Variant Server CLGN_000040 1/13006 0/8600 1/4406
1 c.1249T>C r.(?) p.(Ser417Pro) g.141315096A>G Copied from the Exome Variant Server CLGN_000039 1/13006 1/8600 0/4406
1 c.1260T>C r.(=) p.(=) g.141315085A>G Copied from the Exome Variant Server CLGN_000038 1/13006 1/8600 0/4406
1 c.1292C>T r.(?) p.(Ser431Leu) g.141315053G>A Copied from the Exome Variant Server CLGN_000037 1/13006 0/8600 1/4406
1 c.1293G>A r.(=) p.(=) g.141315052C>T Copied from the Exome Variant Server CLGN_000036 1/13006 1/8600 0/4406
1 c.1335A>G r.(=) p.(=) g.141315010T>C Copied from the Exome Variant Server CLGN_000035 2/13006 2/8600 0/4406
1 c.1336T>C r.(?) p.(Trp446Arg) g.141315009A>G Copied from the Exome Variant Server CLGN_000034 2/13006 0/8600 2/4406
1 c.1365+23T>C r.(=) p.(=) g.141314957A>G Copied from the Exome Variant Server CLGN_000033 3/13006 3/8600 0/4406
1 c.1365+34C>A r.(=) p.(=) g.141314946G>T Copied from the Exome Variant Server CLGN_000032 1/13006 1/8600 0/4406
1 c.1365+45A>T r.(=) p.(=) g.141314935T>A Copied from the Exome Variant Server CLGN_000031 1/13002 1/8596 0/4406
1 c.1366-9C>T r.(=) p.(=) g.141313874G>A Copied from the Exome Variant Server CLGN_000030 2/13006 2/8600 0/4406
1 c.1366-8G>A r.(=) p.(=) g.141313873C>T Copied from the Exome Variant Server CLGN_000029 437/13006 402/8600 35/4406
1 c.1435A>T r.(?) p.(Thr479Ser) g.141313796T>A Copied from the Exome Variant Server CLGN_000028 2/13006 0/8600 2/4406
1 c.1436C>G r.(?) p.(Thr479Arg) g.141313795G>C Copied from the Exome Variant Server CLGN_000027 1/13006 0/8600 1/4406
1 c.1491+25C>T r.(=) p.(=) g.141313715G>A Copied from the Exome Variant Server CLGN_000026 1/13006 1/8600 0/4406
1 c.1491+31_1491+32insT r.(=) p.(=) g.141313708_141313709insA Copied from the Exome Variant Server CLGN_000025 11/12514 1/8250 10/4264
1 c.1492-51T>C r.(=) p.(=) g.141313583A>G Copied from the Exome Variant Server CLGN_000024 15/12984 0/8580 15/4404
1 c.1492-15T>C r.(=) p.(=) g.141313547A>G Copied from the Exome Variant Server CLGN_000023 2/13002 0/8596 2/4406
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