All transcript variants in gene RET

Information The variants shown are described using the NM_020975.4 transcript reference sequence.

221 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.44_46del r.(?) p.(Leu19del) g.43572750_43572752del Copied from the Exome Variant Server RET_000001 46/4636 31/3158 15/1478
?/? c.79T>C r.(=) p.(=) g.43595912T>C Copied from the Exome Variant Server RET_000002 1/13006 1/8600 0/4406
?/? c.81G>A r.(=) p.(=) g.43595914G>A Copied from the Exome Variant Server RET_000003 1/13006 0/8600 1/4406
?/? c.96G>A r.(=) p.(=) g.43595929G>A Copied from the Exome Variant Server RET_000004 2/13006 2/8600 0/4406
?/? c.118C>T r.(=) p.(=) g.43595951C>T Copied from the Exome Variant Server RET_000005 1/13006 1/8600 0/4406
?/? c.135A>G N/A N/A g.43595968A>G Copied from the Exome Variant Server RET_000006 10524/13006 6359/8600 4165/4406
?/? c.166C>A r.(?) p.(Leu56Met) g.43595999C>A Copied from the Exome Variant Server RET_000007 48/13006 46/8600 2/4406
?/? c.175G>A r.(?) p.(Ala59Thr) g.43596008G>A Copied from the Exome Variant Server RET_000008 1/13006 0/8600 1/4406
?/? c.177C>A r.(=) p.(=) g.43596010C>A Copied from the Exome Variant Server RET_000009 1/13006 1/8600 0/4406
?/? c.204G>T r.(=) p.(=) g.43596037G>T Copied from the Exome Variant Server RET_000010 3/13006 0/8600 3/4406
?/? c.224C>T r.(?) p.(Thr75Met) g.43596057C>T Copied from the Exome Variant Server RET_000011 1/13006 0/8600 1/4406
?/? c.225G>A r.(=) p.(=) g.43596058G>A Copied from the Exome Variant Server RET_000012 6/13006 0/8600 6/4406
?/? c.262A>G r.(?) p.(Ile88Val) g.43596095A>G Copied from the Exome Variant Server RET_000013 4/13006 0/8600 4/4406
?/? c.304G>A r.(?) p.(Asp102Asn) g.43596137G>A Copied from the Exome Variant Server RET_000014 1/13002 1/8600 0/4402
?/? c.308A>G r.(?) p.(His103Arg) g.43596141A>G Copied from the Exome Variant Server RET_000015 1/13002 1/8600 0/4402
?/? c.337+6G>A r.(=) p.(=) g.43596176G>A Copied from the Exome Variant Server RET_000017 1/12974 0/8580 1/4394
?/? c.337+9G>A r.(=) p.(=) g.43596179G>A Copied from the Exome Variant Server RET_000019 2706/12966 2271/8578 435/4388
?/? c.337+12G>A r.(=) p.(=) g.43596182G>A Copied from the Exome Variant Server RET_000021 25/12960 4/8572 21/4388
?/? c.337+34C>T r.(=) p.(=) g.43596204C>T Copied from the Exome Variant Server RET_000023 3/12378 3/8200 0/4178
?/? c.338-32G>A r.(=) p.(=) g.43597758G>A Copied from the Exome Variant Server RET_000025 19/13006 0/8600 19/4406
?/? c.375C>A r.(=) p.(=) g.43597827C>A Copied from the Exome Variant Server RET_000027 114/13006 102/8600 12/4406
?/? c.391T>C r.(?) p.(Ser131Pro) g.43597843T>C Copied from the Exome Variant Server RET_000029 1/13006 1/8600 0/4406
?/? c.398G>A r.(?) p.(Arg133His) g.43597850G>A Copied from the Exome Variant Server RET_000031 2/13006 0/8600 2/4406
?/? c.405C>T r.(=) p.(=) g.43597857C>T Copied from the Exome Variant Server RET_000033 7/13006 0/8600 7/4406
?/? c.452A>G r.(?) p.(Asn151Ser) g.43597904A>G Copied from the Exome Variant Server RET_000035 1/13006 0/8600 1/4406
?/? c.468C>T r.(=) p.(=) g.43597920C>T Copied from the Exome Variant Server RET_000016 30/13006 0/8600 30/4406
?/? c.487C>A r.(=) p.(=) g.43597939C>A Copied from the Exome Variant Server RET_000018 2/13006 0/8600 2/4406
?/? c.488G>A r.(?) p.(Arg163Gln) g.43597940G>A Copied from the Exome Variant Server RET_000020 1/13006 0/8600 1/4406
?/? c.505G>A r.(?) p.(Glu169Lys) g.43597957G>A Copied from the Exome Variant Server RET_000022 1/13006 1/8600 0/4406
?/? c.518C>T r.(?) p.(Ser173Phe) g.43597970C>T Copied from the Exome Variant Server RET_000024 1/13006 0/8600 1/4406
?/? c.539G>A r.(?) p.(Arg180Gln) g.43597991G>A Copied from the Exome Variant Server RET_000026 1/13006 1/8600 0/4406
?/? c.548G>A r.(?) p.(Gly183Asp) g.43598000G>A Copied from the Exome Variant Server RET_000028 1/13006 0/8600 1/4406
?/? c.582G>A r.(=) p.(=) g.43598034G>A Copied from the Exome Variant Server RET_000030 1/13006 1/8600 0/4406
?/? c.625+10G>A r.(=) p.(=) g.43598087G>A Copied from the Exome Variant Server RET_000032 1/13006 1/8600 0/4406
?/? c.626-21C>T r.(=) p.(=) g.43600379C>T Copied from the Exome Variant Server RET_000034 2/12492 2/8240 0/4252
?/? c.654G>A r.(=) p.(=) g.43600428G>A Copied from the Exome Variant Server RET_000036 21/12928 0/8538 21/4390
?/? c.678C>T r.(=) p.(=) g.43600452C>T Copied from the Exome Variant Server RET_000037 2/12958 0/8570 2/4388
?/? c.718G>C r.(?) p.(Val240Leu) g.43600492G>C Copied from the Exome Variant Server RET_000039 1/12996 1/8594 0/4402
?/? c.731C>T r.(?) p.(Thr244Ile) g.43600505C>T Copied from the Exome Variant Server RET_000041 1/12996 1/8594 0/4402
?/? c.740C>T r.(?) p.(Ala247Val) g.43600514C>T Copied from the Exome Variant Server RET_000043 1/12996 1/8596 0/4400
?/? c.785T>C r.(?) p.(Val262Ala) g.43600559T>C Copied from the Exome Variant Server RET_000045 3/12996 3/8596 0/4400
?/? c.825C>T r.(=) p.(=) g.43600599C>T Copied from the Exome Variant Server RET_000047 1/13002 0/8598 1/4404
?/? c.867+13G>C r.(=) p.(=) g.43600654G>C Copied from the Exome Variant Server RET_000049 1/13004 0/8598 1/4406
?/? c.867+43C>T r.(=) p.(=) g.43600684C>T Copied from the Exome Variant Server RET_000051 1/12992 1/8590 0/4402
?/? c.867+48A>G r.(=) p.(=) g.43600689A>G Copied from the Exome Variant Server RET_000053 4842/12982 3513/8584 1329/4398
?/? c.868-39A>G r.(=) p.(=) g.43601785A>G Copied from the Exome Variant Server RET_000055 1/12992 1/8594 0/4398
?/? c.868-18G>A r.(=) p.(=) g.43601806G>A Copied from the Exome Variant Server RET_000057 122/13004 3/8598 119/4406
?/? c.868-6C>T r.(=) p.(=) g.43601818C>T Copied from the Exome Variant Server RET_000059 2/13006 0/8600 2/4406
?/? c.951G>T r.(=) p.(=) g.43601907G>T Copied from the Exome Variant Server RET_000061 1/13004 1/8598 0/4406
?/? c.957C>A r.(=) p.(=) g.43601913C>A Copied from the Exome Variant Server RET_000063 4/13004 3/8598 1/4406
?/? c.961G>A r.(?) p.(Gly321Arg) g.43601917G>A Copied from the Exome Variant Server RET_000038 1/13004 1/8598 0/4406
?/? c.993G>A r.(=) p.(=) g.43601949G>A Copied from the Exome Variant Server RET_000040 1/13004 0/8600 1/4404
?/? c.1008C>G r.(?) p.(Asn336Lys) g.43601964C>G Copied from the Exome Variant Server RET_000042 1/13004 0/8600 1/4404
?/? c.1017G>A r.(=) p.(=) g.43601973G>A Copied from the Exome Variant Server RET_000044 1/13006 1/8600 0/4406
?/? c.1018G>T r.(?) p.(Val340Phe) g.43601974G>T Copied from the Exome Variant Server RET_000046 1/13006 0/8600 1/4406
?/? c.1047G>A r.(=) p.(=) g.43602003G>A Copied from the Exome Variant Server RET_000048 1/13004 1/8598 0/4406
?/? c.1050C>T r.(=) p.(=) g.43602006C>T Copied from the Exome Variant Server RET_000050 2/13004 0/8598 2/4406
?/? c.1063A>G r.(?) p.(Arg355Gly) g.43602019A>G Copied from the Exome Variant Server RET_000052 1/13000 0/8598 1/4402
?/? c.1063+10G>A r.(=) p.(=) g.43602029G>A Copied from the Exome Variant Server RET_000054 1/13002 0/8600 1/4402
?/? c.1063+21G>A r.(=) p.(=) g.43602040G>A Copied from the Exome Variant Server RET_000056 2/12996 1/8594 1/4402
?/? c.1063+47G>A r.(=) p.(=) g.43602066G>A Copied from the Exome Variant Server RET_000058 43/12980 39/8586 4/4394
?/? c.1064-33G>A r.(=) p.(=) g.43604446G>A Copied from the Exome Variant Server RET_000060 7/13006 0/8600 7/4406
?/? c.1064-22A>G r.(=) p.(=) g.43604457A>G Copied from the Exome Variant Server RET_000062 2/13006 0/8600 2/4406
?/? c.1064-16G>T r.(=) p.(=) g.43604463G>T Copied from the Exome Variant Server RET_000064 1/13006 1/8600 0/4406
?/? c.1064-14G>T r.(=) p.(=) g.43604465G>T Copied from the Exome Variant Server RET_000065 1/13006 0/8600 1/4406
?/? c.1103G>A r.(?) p.(Arg368His) g.43604518G>A Copied from the Exome Variant Server RET_000066 1/13006 1/8600 0/4406
?/? c.1119G>A r.(=) p.(=) g.43604534G>A Copied from the Exome Variant Server RET_000067 5/13006 0/8600 5/4406
?/? c.1124T>A r.(?) p.(Leu375Gln) g.43604539T>A Copied from the Exome Variant Server RET_000068 5/13006 0/8600 5/4406
?/? c.1157C>T r.(?) p.(Ala386Val) g.43604572C>T Copied from the Exome Variant Server RET_000069 10/13006 0/8600 10/4406
?/? c.1158G>A r.(=) p.(=) g.43604573G>A Copied from the Exome Variant Server RET_000070 4/13006 4/8600 0/4406
?/? c.1182C>T r.(=) p.(=) g.43604597C>T Copied from the Exome Variant Server RET_000071 1/13006 1/8600 0/4406
?/? c.1197G>A r.(=) p.(=) g.43604612G>A Copied from the Exome Variant Server RET_000072 8/13006 0/8600 8/4406
?/? c.1201A>T r.(?) p.(Ser401Cys) g.43604616A>T Copied from the Exome Variant Server RET_000073 1/13006 1/8600 0/4406
?/? c.1253G>C r.(?) p.(Arg418Pro) g.43604668G>C Copied from the Exome Variant Server RET_000074 1/13006 1/8600 0/4406
?/? c.1263+19C>T r.(=) p.(=) g.43604697C>T Copied from the Exome Variant Server RET_000075 1/13004 1/8600 0/4404
?/? c.1263+46G>A r.(=) p.(=) g.43604724G>A Copied from the Exome Variant Server RET_000076 1/12996 0/8598 1/4398
?/? c.1263+53del r.(=) p.(=) g.43604731del Copied from the Exome Variant Server RET_000077 87/12510 6/8252 81/4258
?/? c.1264-43C>T r.(=) p.(=) g.43606612C>T Copied from the Exome Variant Server RET_000078 1/13006 1/8600 0/4406
?/? c.1264-25A>G r.(=) p.(=) g.43606630A>G Copied from the Exome Variant Server RET_000079 14/13006 0/8600 14/4406
?/? c.1264-12G>C r.(=) p.(=) g.43606643G>C Copied from the Exome Variant Server RET_000080 1/13006 0/8600 1/4406
?/? c.1264-5C>T r.spl? p.? g.43606650C>T Copied from the Exome Variant Server RET_000081 443/13006 6/8600 437/4406
?/? c.1296A>G r.(=) p.(=) g.43606687A>G Copied from the Exome Variant Server RET_000082 9736/13006 5936/8600 3800/4406
?/? c.1336G>C r.(?) p.(Gly446Arg) g.43606727G>C Copied from the Exome Variant Server RET_000083 32/13006 0/8600 32/4406
?/? c.1354C>A r.(?) p.(Leu452Ile) g.43606745C>A Copied from the Exome Variant Server RET_000084 5/13006 0/8600 5/4406
?/? c.1363G>A r.(?) p.(Val455Ile) g.43606754G>A Copied from the Exome Variant Server RET_000085 2/13006 0/8600 2/4406
?/? c.1371A>T r.(=) p.(=) g.43606762A>T Copied from the Exome Variant Server RET_000086 2/13006 0/8600 2/4406
?/? c.1424G>A r.(?) p.(Arg475Gln) g.43606815G>A Copied from the Exome Variant Server RET_000087 1/13006 0/8600 1/4406
?/? c.1465G>A r.(?) p.(Asp489Asn) g.43606856G>A Copied from the Exome Variant Server RET_000088 2/13006 1/8600 1/4406
?/? c.1467C>A r.(?) p.(Asp489Glu) g.43606858C>A Copied from the Exome Variant Server RET_000089 1/13006 1/8600 0/4406
?/? c.1493C>T r.(?) p.(Ala498Val) g.43606884C>T Copied from the Exome Variant Server RET_000090 1/13006 1/8600 0/4406
?/? c.1522+35C>T r.(=) p.(=) g.43606948C>T Copied from the Exome Variant Server RET_000092 2/12950 2/8566 0/4384
?/? c.1531G>A r.(?) p.(Glu511Lys) g.43607555G>A Copied from the Exome Variant Server RET_000094 3/12994 3/8592 0/4402
?/? c.1538C>G r.(?) p.(Ala513Gly) g.43607562C>G Copied from the Exome Variant Server RET_000096 1/13000 1/8596 0/4404
?/? c.1596C>T r.(=) p.(=) g.43607620C>T Copied from the Exome Variant Server RET_000098 1/12974 1/8580 0/4394
?/? c.1613C>G r.(?) p.(Thr538Arg) g.43607637C>G Copied from the Exome Variant Server RET_000100 1/12940 1/8566 0/4374
?/? c.1642G>A r.(?) p.(Gly548Ser) g.43607666G>A Copied from the Exome Variant Server RET_000102 3/12824 0/8494 3/4330
?/? c.1648+47C>T r.(=) p.(=) g.43607719C>T Copied from the Exome Variant Server RET_000104 2/11778 0/7774 2/4004
?/? c.1648+48G>A r.(=) p.(=) g.43607720G>A Copied from the Exome Variant Server RET_000106 1/11720 1/7724 0/3996
?/? c.1649-51C>T r.(=) p.(=) g.43608250C>T Copied from the Exome Variant Server RET_000108 3/12992 0/8594 3/4398
?/? c.1649-50G>A r.(=) p.(=) g.43608251G>A Copied from the Exome Variant Server RET_000110 1/12988 1/8592 0/4396
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