Unique variants in gene DRP2

Information The variants shown are described using the NM_001939.2 transcript reference sequence.

135 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.-28C>T r.(=) p.(=) g.100486609C>T Copied from the Exome Variant Server DRP2_000001 1/10563 1/6728 0/3835
1 c.-23del r.(=) p.(=) g.100486614del Copied from the Exome Variant Server DRP2_000002 21/10205 11/6484 10/3721
1 c.-17C>A r.(=) p.(=) g.100486620C>A Copied from the Exome Variant Server DRP2_000003 1/10563 1/6728 0/3835
1 c.1A>G r.? p.? g.100486637A>G Copied from the Exome Variant Server DRP2_000004 1/10563 0/6728 1/3835
1 c.95G>A r.(?) p.(Arg32Gln) g.100486731G>A Copied from the Exome Variant Server DRP2_000005 1/10563 1/6728 0/3835
1 c.118-46G>T r.(=) p.(=) g.100490803G>T Copied from the Exome Variant Server DRP2_000006 3/10563 0/6728 3/3835
1 c.171C>G r.(=) p.(=) g.100490902C>G Copied from the Exome Variant Server DRP2_000007 30/10563 0/6728 30/3835
1 c.180C>A r.(?) p.(Ser60Arg) g.100490911C>A Copied from the Exome Variant Server DRP2_000008 108/10563 101/6728 7/3835
1 c.189G>T r.(=) p.(=) g.100490920G>T Copied from the Exome Variant Server DRP2_000009 6/10563 6/6728 0/3835
1 c.202G>C r.(?) p.(Val68Leu) g.100490933G>C Copied from the Exome Variant Server DRP2_000010 1415/10563 882/6728 533/3835
1 c.282-34A>T r.(=) p.(=) g.100492574A>T Copied from the Exome Variant Server DRP2_000011 1/10563 0/6728 1/3835
1 c.282-30A>G r.(=) p.(=) g.100492578A>G Copied from the Exome Variant Server DRP2_000012 3/10563 3/6728 0/3835
1 c.283G>A r.(?) p.(Ala95Thr) g.100492609G>A Copied from the Exome Variant Server DRP2_000013 2/10563 1/6728 1/3835
1 c.287G>A r.(?) p.(Arg96His) g.100492613G>A Copied from the Exome Variant Server DRP2_000014 1/10563 0/6728 1/3835
1 c.295G>A r.(?) p.(Ala99Thr) g.100492621G>A Copied from the Exome Variant Server DRP2_000015 1/10563 1/6728 0/3835
1 c.435T>C r.(=) p.(=) g.100492761T>C Copied from the Exome Variant Server DRP2_000017 165/10563 1/6728 164/3835
1 c.438G>A r.(=) p.(=) g.100492764G>A Copied from the Exome Variant Server DRP2_000019 1/10563 1/6728 0/3835
1 c.438+9G>A r.(=) p.(=) g.100492773G>A Copied from the Exome Variant Server DRP2_000021 1224/10563 676/6728 548/3835
1 c.438+23G>A r.(=) p.(=) g.100492787G>A Copied from the Exome Variant Server DRP2_000023 1/10563 1/6728 0/3835
1 c.439-45T>C r.(=) p.(=) g.100493925T>C Copied from the Exome Variant Server DRP2_000025 1/10563 1/6728 0/3835
1 c.439-7T>C r.(=) p.(=) g.100493963T>C Copied from the Exome Variant Server DRP2_000027 1/10563 1/6728 0/3835
1 c.439G>A r.(?) p.(Ala147Thr) g.100493970G>A Copied from the Exome Variant Server DRP2_000029 11/10563 11/6728 0/3835
1 c.465G>T r.(=) p.(=) g.100493996G>T Copied from the Exome Variant Server DRP2_000031 159/10563 0/6728 159/3835
1 c.466G>T r.(?) p.(Gly156Cys) g.100493997G>T Copied from the Exome Variant Server DRP2_000016 1/10563 1/6728 0/3835
1 c.487C>T r.(=) p.(=) g.100494018C>T Copied from the Exome Variant Server DRP2_000018 1/10563 0/6728 1/3835
1 c.524T>G r.(?) p.(Phe175Cys) g.100494055T>G Copied from the Exome Variant Server DRP2_000020 59/10563 1/6728 58/3835
1 c.546T>C r.(=) p.(=) g.100494077T>C Copied from the Exome Variant Server DRP2_000022 19/10563 18/6728 1/3835
1 c.560-36G>A r.(=) p.(=) g.100496621G>A Copied from the Exome Variant Server DRP2_000024 1/10563 0/6728 1/3835
1 c.564C>T r.(=) p.(=) g.100496661C>T Copied from the Exome Variant Server DRP2_000026 3/10563 3/6728 0/3835
1 c.577C>T r.(?) p.(Arg193Trp) g.100496674C>T Copied from the Exome Variant Server DRP2_000028 1/10563 1/6728 0/3835
1 c.615G>A r.(=) p.(=) g.100496712G>A Copied from the Exome Variant Server DRP2_000030 1/10563 0/6728 1/3835
1 c.624C>T r.(=) p.(=) g.100496721C>T Copied from the Exome Variant Server DRP2_000032 7/10563 0/6728 7/3835
1 c.652C>T r.(?) p.(Arg218Cys) g.100496749C>T Copied from the Exome Variant Server DRP2_000033 1/10563 1/6728 0/3835
1 c.670C>T r.(?) p.(Arg224Cys) g.100496767C>T Copied from the Exome Variant Server DRP2_000034 1/10563 0/6728 1/3835
1 c.779T>C r.(?) p.(Ile260Thr) g.100496876T>C Copied from the Exome Variant Server DRP2_000035 1/10448 0/6651 1/3797
1 c.819G>A r.(=) p.(=) g.100496916G>A Copied from the Exome Variant Server DRP2_000036 1/10033 1/6374 0/3659
1 c.828+45_828+46insC r.(=) p.(=) g.100496970_100496971insC Copied from the Exome Variant Server DRP2_000037 7/9160 6/5804 1/3356
1 c.828+48C>T r.(=) p.(=) g.100496973C>T Copied from the Exome Variant Server DRP2_000038 128/9589 0/6093 128/3496
1 c.831G>A r.(=) p.(=) g.100497316G>A Copied from the Exome Variant Server DRP2_000039 2/10563 2/6728 0/3835
1 c.832T>G r.(?) p.(Phe278Val) g.100497317T>G Copied from the Exome Variant Server DRP2_000040 1/10563 1/6728 0/3835
1 c.846C>A r.(?) p.(Phe282Leu) g.100497331C>A Copied from the Exome Variant Server DRP2_000041 1/10563 0/6728 1/3835
1 c.894A>G r.(=) p.(=) g.100497379A>G Copied from the Exome Variant Server DRP2_000042 1/10563 1/6728 0/3835
1 c.959G>A r.(?) p.(Arg320Gln) g.100497444G>A Copied from the Exome Variant Server DRP2_000043 3/10563 0/6728 3/3835
1 c.976-4A>G r.spl? p.? g.100497889A>G Copied from the Exome Variant Server DRP2_000044 143/10563 7/6728 136/3835
1 c.1000C>G r.(?) p.(Gln334Glu) g.100497917C>G Copied from the Exome Variant Server DRP2_000045 1/10563 1/6728 0/3835
1 c.1041G>C r.(?) p.(Gln347His) g.100497958G>C Copied from the Exome Variant Server DRP2_000046 1/10563 1/6728 0/3835
1 c.1054+21T>C r.(=) p.(=) g.100497992T>C Copied from the Exome Variant Server DRP2_000047 1/10563 1/6728 0/3835
1 c.1055-17C>T r.(=) p.(=) g.100499989C>T Copied from the Exome Variant Server DRP2_000048 3/10563 0/6728 3/3835
1 c.1071C>T r.(=) p.(=) g.100500022C>T Copied from the Exome Variant Server DRP2_000049 1/10563 1/6728 0/3835
1 c.1115+25C>T r.(=) p.(=) g.100500091C>T Copied from the Exome Variant Server DRP2_000050 2/10563 0/6728 2/3835
1 c.1116-70G>T r.(=) p.(=) g.100500307G>T Copied from the Exome Variant Server DRP2_000051 10/3600 9/2391 1/1209
1 c.1177+20G>A r.(=) p.(=) g.100500458G>A Copied from the Exome Variant Server DRP2_000052 1/10560 0/6726 1/3834
1 c.1177+44_1177+49del r.(=) p.(=) g.100500482_100500487del Copied from the Exome Variant Server DRP2_000053 1106/10199 122/6481 984/3718
1 c.1178-45C>T r.(=) p.(=) g.100502034C>T Copied from the Exome Variant Server DRP2_000054 1/10563 1/6728 0/3835
1 c.1178-29C>T r.(=) p.(=) g.100502050C>T Copied from the Exome Variant Server DRP2_000055 1/10563 0/6728 1/3835
1 c.1178-25G>A r.(=) p.(=) g.100502054G>A Copied from the Exome Variant Server DRP2_000056 1/10563 1/6728 0/3835
1 c.1252+25A>G r.(=) p.(=) g.100502178A>G Copied from the Exome Variant Server DRP2_000057 95/10563 1/6728 94/3835
1 c.1252+29C>T r.(=) p.(=) g.100502182C>T Copied from the Exome Variant Server DRP2_000058 4/10563 2/6728 2/3835
1 c.1253-52G>C r.(=) p.(=) g.100503026G>C Copied from the Exome Variant Server DRP2_000059 53/4525 1/3107 52/1418
1 c.1253-46C>A r.(=) p.(=) g.100503032C>A Copied from the Exome Variant Server DRP2_000060 2/10561 2/6726 0/3835
1 c.1253-32A>T r.(=) p.(=) g.100503046A>T Copied from the Exome Variant Server DRP2_000061 2/10563 0/6728 2/3835
1 c.1253-30T>A r.(=) p.(=) g.100503048T>A Copied from the Exome Variant Server DRP2_000062 20/10563 1/6728 19/3835
1 c.1254G>A r.(=) p.(=) g.100503079G>A Copied from the Exome Variant Server DRP2_000063 1/10563 1/6728 0/3835
1 c.1277C>T r.(?) p.(Ala426Val) g.100503102C>T Copied from the Exome Variant Server DRP2_000064 1/10563 0/6728 1/3835
1 c.1296G>A r.(=) p.(=) g.100503121G>A Copied from the Exome Variant Server DRP2_000065 1/10563 1/6728 0/3835
1 c.1300G>T r.(?) p.(Asp434Tyr) g.100503125G>T Copied from the Exome Variant Server DRP2_000066 1/10563 0/6728 1/3835
1 c.1320C>T r.(=) p.(=) g.100503145C>T Copied from the Exome Variant Server DRP2_000067 1/10563 0/6728 1/3835
1 c.1339G>A r.(?) p.(Val447Ile) g.100503164G>A Copied from the Exome Variant Server DRP2_000068 1/10563 0/6728 1/3835
1 c.1359C>T r.(=) p.(=) g.100503184C>T Copied from the Exome Variant Server DRP2_000069 4/10563 0/6728 4/3835
1 c.1369C>T r.(?) p.(Arg457Cys) g.100503194C>T Copied from the Exome Variant Server DRP2_000070 1/10563 1/6728 0/3835
1 c.1393C>T r.(=) p.(=) g.100503218C>T Copied from the Exome Variant Server DRP2_000071 5/10563 0/6728 5/3835
1 c.1395G>C r.(=) p.(=) g.100503220G>C Copied from the Exome Variant Server DRP2_000072 1/10563 0/6728 1/3835
1 c.1401C>T r.(=) p.(=) g.100503226C>T Copied from the Exome Variant Server DRP2_000073 1/10563 1/6728 0/3835
1 c.1413T>C r.(=) p.(=) g.100503238T>C Copied from the Exome Variant Server DRP2_000074 1/10563 1/6728 0/3835
1 c.1454+5G>A r.spl? p.? g.100503284G>A Copied from the Exome Variant Server DRP2_000075 124/10563 111/6728 13/3835
1 c.1454+8C>T r.(=) p.(=) g.100503287C>T Copied from the Exome Variant Server DRP2_000076 6/10563 6/6728 0/3835
1 c.1455-36A>G r.(=) p.(=) g.100503467A>G Copied from the Exome Variant Server DRP2_000077 1/10563 1/6728 0/3835
1 c.1459C>T r.(?) p.(Arg487Cys) g.100503507C>T Copied from the Exome Variant Server DRP2_000078 1/10563 1/6728 0/3835
1 c.1464C>T r.(=) p.(=) g.100503512C>T Copied from the Exome Variant Server DRP2_000079 1/10563 1/6728 0/3835
1 c.1498A>G r.(?) p.(Ile500Val) g.100503546A>G Copied from the Exome Variant Server DRP2_000080 1/10563 1/6728 0/3835
1 c.1517C>T r.(?) p.(Thr506Met) g.100503565C>T Copied from the Exome Variant Server DRP2_000081 2/10563 2/6728 0/3835
1 c.1519G>C r.(?) p.(Glu507Gln) g.100503567G>C Copied from the Exome Variant Server DRP2_000082 1/10563 1/6728 0/3835
1 c.1533A>G r.(=) p.(=) g.100503581A>G Copied from the Exome Variant Server DRP2_000083 3/10563 3/6728 0/3835
1 c.1540+32T>A r.(=) p.(=) g.100503620T>A Copied from the Exome Variant Server DRP2_000084 1/10563 1/6728 0/3835
1 c.1541-30_1541-15del r.(=) p.(=) g.100505382_100505397del Copied from the Exome Variant Server DRP2_000085 33/10196 25/6478 8/3718
1 c.1666G>T r.(?) p.(Val556Leu) g.100505537G>T Copied from the Exome Variant Server DRP2_000086 1/10563 1/6728 0/3835
1 c.1682G>A r.(?) p.(Arg561His) g.100505553G>A Copied from the Exome Variant Server DRP2_000087 1/10563 0/6728 1/3835
1 c.1695T>A r.(=) p.(=) g.100505566T>A Copied from the Exome Variant Server DRP2_000088 1/10563 0/6728 1/3835
1 c.1698+48G>C r.(=) p.(=) g.100505617G>C Copied from the Exome Variant Server DRP2_000089 3636/10563 2404/6728 1232/3835
1 c.1699-47G>A r.(=) p.(=) g.100505859G>A Copied from the Exome Variant Server DRP2_000090 2/10563 2/6728 0/3835
1 c.1699-25C>G r.(=) p.(=) g.100505881C>G Copied from the Exome Variant Server DRP2_000091 1780/10563 1451/6728 329/3835
1 c.1704C>T r.(=) p.(=) g.100505911C>T Copied from the Exome Variant Server DRP2_000092 2/10563 1/6728 1/3835
1 c.1755G>A r.(=) p.(=) g.100505962G>A Copied from the Exome Variant Server DRP2_000093 65/10563 63/6728 2/3835
1 c.1776G>A r.(=) p.(=) g.100505983G>A Copied from the Exome Variant Server DRP2_000094 1/10563 0/6728 1/3835
1 c.1845G>A r.(=) p.(=) g.100506052G>A Copied from the Exome Variant Server DRP2_000095 1/10563 0/6728 1/3835
1 c.1860G>A r.(=) p.(=) g.100506067G>A Copied from the Exome Variant Server DRP2_000096 1/10563 0/6728 1/3835
1 c.1865+15A>C r.(=) p.(=) g.100506087A>C Copied from the Exome Variant Server DRP2_000097 4/10563 0/6728 4/3835
1 c.1866-40C>T r.(=) p.(=) g.100507554C>T Copied from the Exome Variant Server DRP2_000098 6/10563 0/6728 6/3835
1 c.1866-7C>T r.(=) p.(=) g.100507587C>T Copied from the Exome Variant Server DRP2_000099 24/10563 0/6728 24/3835
1 c.1866-5C>G r.spl? p.? g.100507589C>G Copied from the Exome Variant Server DRP2_000100 1/10563 0/6728 1/3835
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