All transcript variants in gene SSRP1

Information The variants shown are described using the NM_003146.2 transcript reference sequence.

123 entries on 2 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.-30C>A r.(=) p.(=) g.57102625G>T Copied from the Exome Variant Server SSRP1_000123 1/12994 0/8592 1/4402
?/? c.9G>A r.(=) p.(=) g.57102587C>T Copied from the Exome Variant Server SSRP1_000122 2/12994 0/8592 2/4402
?/? c.32A>G r.(?) p.(Tyr11Cys) g.57102564T>C Copied from the Exome Variant Server SSRP1_000121 1/12994 1/8592 0/4402
?/? c.52A>G r.(?) p.(Met18Val) g.57102544T>C Copied from the Exome Variant Server SSRP1_000120 1/12994 1/8592 0/4402
?/? c.54+9G>A r.(=) p.(=) g.57102533C>T Copied from the Exome Variant Server SSRP1_000119 1/12994 1/8592 0/4402
?/? c.54+31_54+32insA r.(=) p.(=) g.57102510_57102511insT Copied from the Exome Variant Server SSRP1_000118 109/12518 1/8254 108/4264
?/? c.54+43G>C r.(=) p.(=) g.57102499C>G Copied from the Exome Variant Server SSRP1_000117 1/12994 1/8592 0/4402
?/? c.54+46G>A r.(=) p.(=) g.57102496C>T Copied from the Exome Variant Server SSRP1_000116 1/12994 1/8592 0/4402
?/? c.55-23A>G r.(=) p.(=) g.57102145T>C Copied from the Exome Variant Server SSRP1_000115 1/12994 0/8592 1/4402
?/? c.55-11T>G r.(=) p.(=) g.57102133A>C Copied from the Exome Variant Server SSRP1_000114 1/12994 0/8592 1/4402
?/? c.78C>T r.(=) p.(=) g.57102099G>A Copied from the Exome Variant Server SSRP1_000113 1/12994 1/8592 0/4402
?/? c.80G>A r.(?) p.(Arg27His) g.57102097C>T Copied from the Exome Variant Server SSRP1_000112 40/12994 36/8592 4/4402
?/? c.81T>C r.(=) p.(=) g.57102096A>G Copied from the Exome Variant Server SSRP1_000111 2973/12994 1434/8592 1539/4402
?/? c.93C>T r.(=) p.(=) g.57102084G>A Copied from the Exome Variant Server SSRP1_000110 1/12994 0/8592 1/4402
?/? c.102T>C r.(=) p.(=) g.57102075A>G Copied from the Exome Variant Server SSRP1_000109 7/12994 2/8592 5/4402
?/? c.180T>C r.(=) p.(=) g.57101997A>G Copied from the Exome Variant Server SSRP1_000108 13/12994 12/8592 1/4402
?/? c.241-37G>T r.(=) p.(=) g.57101051C>A Copied from the Exome Variant Server SSRP1_000107 1/12994 1/8592 0/4402
?/? c.241-29G>A r.(=) p.(=) g.57101043C>T Copied from the Exome Variant Server SSRP1_000106 1/12994 1/8592 0/4402
?/? c.255C>G r.(=) p.(=) g.57101000G>C Copied from the Exome Variant Server SSRP1_000105 194/12994 5/8592 189/4402
?/? c.281G>A r.(?) p.(Arg94His) g.57100974C>T Copied from the Exome Variant Server SSRP1_000104 1/12994 1/8592 0/4402
?/? c.303C>A r.(?) p.(Asp101Glu) g.57100952G>T Copied from the Exome Variant Server SSRP1_000103 1/12994 1/8592 0/4402
?/? c.315G>A r.(=) p.(=) g.57100940C>T Copied from the Exome Variant Server SSRP1_000102 1/12994 1/8592 0/4402
?/? c.346+13G>A r.(=) p.(=) g.57100896C>T Copied from the Exome Variant Server SSRP1_000101 9/12994 0/8592 9/4402
?/? c.347-5C>T r.spl? p.? g.57100628G>A Copied from the Exome Variant Server SSRP1_000100 1/12994 1/8592 0/4402
?/? c.349C>G r.(?) p.(Gln117Glu) g.57100621G>C Copied from the Exome Variant Server SSRP1_000099 1/12994 0/8592 1/4402
?/? c.379C>T r.(?) p.(Pro127Ser) g.57100591G>A Copied from the Exome Variant Server SSRP1_000098 5/12994 2/8592 3/4402
?/? c.380C>T r.(?) p.(Pro127Leu) g.57100590G>A Copied from the Exome Variant Server SSRP1_000097 1/12994 1/8592 0/4402
?/? c.495C>T r.(=) p.(=) g.57100475G>A Copied from the Exome Variant Server SSRP1_000096 3/12994 3/8592 0/4402
?/? c.498C>T r.(=) p.(=) g.57100472G>A Copied from the Exome Variant Server SSRP1_000095 51/12994 42/8592 9/4402
?/? c.499G>A r.(?) p.(Val167Ile) g.57100471C>T Copied from the Exome Variant Server SSRP1_000094 3/12994 0/8592 3/4402
?/? c.509C>G r.(?) p.(Thr170Ser) g.57100461G>C Copied from the Exome Variant Server SSRP1_000093 1/12994 0/8592 1/4402
?/? c.537+20C>A r.(=) p.(=) g.57100413G>T Copied from the Exome Variant Server SSRP1_000092 1/12994 1/8592 0/4402
?/? c.537+39T>C r.(=) p.(=) g.57100394A>G Copied from the Exome Variant Server SSRP1_000090 1/12994 1/8592 0/4402
?/? c.538-22C>T r.(=) p.(=) g.57100351G>A Copied from the Exome Variant Server SSRP1_000088 2789/12994 1403/8592 1386/4402
?/? c.601A>G r.(?) p.(Ile201Val) g.57100266T>C Copied from the Exome Variant Server SSRP1_000086 7/12994 7/8592 0/4402
?/? c.607C>T r.(?) p.(Arg203Trp) g.57100260G>A Copied from the Exome Variant Server SSRP1_000084 1/12994 0/8592 1/4402
?/? c.642T>C r.(=) p.(=) g.57100225A>G Copied from the Exome Variant Server SSRP1_000091 306/12994 274/8592 32/4402
?/? c.660C>T r.(=) p.(=) g.57100207G>A Copied from the Exome Variant Server SSRP1_000089 1/12994 1/8592 0/4402
?/? c.681C>A r.(=) p.(=) g.57100186G>T Copied from the Exome Variant Server SSRP1_000087 7/12994 0/8592 7/4402
?/? c.753C>T r.(=) p.(=) g.57100114G>A Copied from the Exome Variant Server SSRP1_000085 1/12994 1/8592 0/4402
?/? c.768+38T>C r.(=) p.(=) g.57100061A>G Copied from the Exome Variant Server SSRP1_000083 1/12994 1/8592 0/4402
?/? c.768+44A>G r.(=) p.(=) g.57100055T>C Copied from the Exome Variant Server SSRP1_000082 2/12994 2/8592 0/4402
?/? c.769-52T>G r.(=) p.(=) g.57100012A>C Copied from the Exome Variant Server SSRP1_000081 2/7272 0/4618 2/2654
?/? c.769-34T>C r.(=) p.(=) g.57099994A>G Copied from the Exome Variant Server SSRP1_000080 1/12994 0/8592 1/4402
?/? c.769-19T>G r.(=) p.(=) g.57099979A>C Copied from the Exome Variant Server SSRP1_000079 1/12994 1/8592 0/4402
?/? c.769-6T>C r.(=) p.(=) g.57099966A>G Copied from the Exome Variant Server SSRP1_000078 5/12994 0/8592 5/4402
?/? c.840C>T r.(=) p.(=) g.57099889G>A Copied from the Exome Variant Server SSRP1_000077 1/12994 1/8592 0/4402
?/? c.851C>T r.(?) p.(Ser284Leu) g.57099878G>A Copied from the Exome Variant Server SSRP1_000076 3/12994 3/8592 0/4402
?/? c.852G>A r.(=) p.(=) g.57099877C>T Copied from the Exome Variant Server SSRP1_000075 10/12994 7/8592 3/4402
?/? c.870C>T r.(=) p.(=) g.57099859G>A Copied from the Exome Variant Server SSRP1_000074 1/12994 1/8592 0/4402
?/? c.872+21G>A r.(=) p.(=) g.57099836C>T Copied from the Exome Variant Server SSRP1_000073 1/12994 1/8592 0/4402
?/? c.872+41C>T r.(=) p.(=) g.57099816G>A Copied from the Exome Variant Server SSRP1_000072 1/12994 0/8592 1/4402
?/? c.873-8C>A r.(=) p.(=) g.57099762G>T Copied from the Exome Variant Server SSRP1_000071 1/12994 1/8592 0/4402
?/? c.927C>T r.(=) p.(=) g.57099700G>A Copied from the Exome Variant Server SSRP1_000070 1/12994 1/8592 0/4402
?/? c.966A>G r.(=) p.(=) g.57099661T>C Copied from the Exome Variant Server SSRP1_000069 495/12994 391/8592 104/4402
?/? c.1001+22C>T r.(=) p.(=) g.57099604G>A Copied from the Exome Variant Server SSRP1_000068 2/12994 2/8592 0/4402
?/? c.1001+24T>C r.(=) p.(=) g.57099602A>G Copied from the Exome Variant Server SSRP1_000067 1/12994 1/8592 0/4402
?/? c.1001+25G>A r.(=) p.(=) g.57099601C>T Copied from the Exome Variant Server SSRP1_000066 49/12994 0/8592 49/4402
?/? c.1001+36G>C r.(=) p.(=) g.57099590C>G Copied from the Exome Variant Server SSRP1_000065 1/12994 1/8592 0/4402
?/? c.1002-36G>A r.(=) p.(=) g.57099399C>T Copied from the Exome Variant Server SSRP1_000064 1/12990 1/8588 0/4402
?/? c.1002-18C>T r.(=) p.(=) g.57099381G>A Copied from the Exome Variant Server SSRP1_000063 3/12992 0/8592 3/4400
?/? c.1002-17C>T r.(=) p.(=) g.57099380G>A Copied from the Exome Variant Server SSRP1_000062 10/12992 0/8592 10/4400
?/? c.1002-14G>C r.(=) p.(=) g.57099377C>G Copied from the Exome Variant Server SSRP1_000061 2/12994 2/8592 0/4402
?/? c.1002-10C>T r.(=) p.(=) g.57099373G>A Copied from the Exome Variant Server SSRP1_000060 2/12994 2/8592 0/4402
?/? c.1014C>T r.(=) p.(=) g.57099351G>A Copied from the Exome Variant Server SSRP1_000059 1/12994 1/8592 0/4402
?/? c.1062G>A r.(=) p.(=) g.57099303C>T Copied from the Exome Variant Server SSRP1_000058 15/12994 14/8592 1/4402
?/? c.1224-37C>T r.(=) p.(=) g.57098438G>A Copied from the Exome Variant Server SSRP1_000057 1/12994 1/8592 0/4402
?/? c.1224-35A>G r.(=) p.(=) g.57098436T>C Copied from the Exome Variant Server SSRP1_000056 1/12994 0/8592 1/4402
?/? c.1224-14A>G r.(=) p.(=) g.57098415T>C Copied from the Exome Variant Server SSRP1_000055 2/12994 0/8592 2/4402
?/? c.1238A>G r.(?) p.(Lys413Arg) g.57098387T>C Copied from the Exome Variant Server SSRP1_000054 1/12994 1/8592 0/4402
?/? c.1257C>T r.(=) p.(=) g.57098368G>A Copied from the Exome Variant Server SSRP1_000053 8/12994 0/8592 8/4402
?/? c.1296+28del r.(=) p.(=) g.57098301del Copied from the Exome Variant Server SSRP1_000052 31/12518 15/8254 16/4264
?/? c.1296+36G>C r.(=) p.(=) g.57098293C>G Copied from the Exome Variant Server SSRP1_000051 1/12994 1/8592 0/4402
?/? c.1297-21C>T r.(=) p.(=) g.57097924G>A Copied from the Exome Variant Server SSRP1_000050 2007/12994 1399/8592 608/4402
?/? c.1297-20G>A r.(=) p.(=) g.57097923C>T Copied from the Exome Variant Server SSRP1_000049 5/12994 5/8592 0/4402
?/? c.1297-9C>T r.(=) p.(=) g.57097912G>A Copied from the Exome Variant Server SSRP1_000048 3/12994 0/8592 3/4402
?/? c.1314C>T r.(=) p.(=) g.57097886G>A Copied from the Exome Variant Server SSRP1_000047 3/12994 0/8592 3/4402
?/? c.1392G>A r.(=) p.(=) g.57097808C>T Copied from the Exome Variant Server SSRP1_000046 2/12994 2/8592 0/4402
?/? c.1435+8A>G r.(=) p.(=) g.57097757T>C Copied from the Exome Variant Server SSRP1_000045 8/12994 0/8592 8/4402
?/? c.1435+14C>T r.(=) p.(=) g.57097751G>A Copied from the Exome Variant Server SSRP1_000044 46/12994 43/8592 3/4402
?/? c.1435+25C>T r.(=) p.(=) g.57097740G>A Copied from the Exome Variant Server SSRP1_000043 45/12994 37/8592 8/4402
?/? c.1435+37_1435+38insG r.(=) p.(=) g.57097727_57097728insC Copied from the Exome Variant Server SSRP1_000042 13/12516 1/8252 12/4264
?/? c.1436-38T>C r.(=) p.(=) g.57097650A>G Copied from the Exome Variant Server SSRP1_000041 2/12994 0/8592 2/4402
?/? c.1481+22T>C r.(=) p.(=) g.57097545A>G Copied from the Exome Variant Server SSRP1_000040 1/12994 0/8592 1/4402
?/? c.1481+41C>T r.(=) p.(=) g.57097526G>A Copied from the Exome Variant Server SSRP1_000039 1/12994 1/8592 0/4402
?/? c.1482-37C>T r.(=) p.(=) g.57095937G>A Copied from the Exome Variant Server SSRP1_000038 33/12994 28/8592 5/4402
?/? c.1482-30C>T r.(=) p.(=) g.57095930G>A Copied from the Exome Variant Server SSRP1_000037 258/12994 1/8592 257/4402
?/? c.1550G>A r.(?) p.(Arg517Gln) g.57095832C>T Copied from the Exome Variant Server SSRP1_000036 1/12994 1/8592 0/4402
?/? c.1585C>T r.(?) p.(Arg529Cys) g.57095797G>A Copied from the Exome Variant Server SSRP1_000035 2/12994 1/8592 1/4402
?/? c.1593C>T r.(=) p.(=) g.57095789G>A Copied from the Exome Variant Server SSRP1_000034 1/12994 1/8592 0/4402
?/? c.1612-5T>C r.spl? p.? g.57095361A>G Copied from the Exome Variant Server SSRP1_000033 9/12994 0/8592 9/4402
?/? c.1634A>G r.(?) p.(Asn545Ser) g.57095334T>C Copied from the Exome Variant Server SSRP1_000032 8/12994 0/8592 8/4402
?/? c.1676A>G r.(?) p.(Asn559Ser) g.57095292T>C Copied from the Exome Variant Server SSRP1_000031 1/12994 0/8592 1/4402
?/? c.1750A>G r.(?) p.(Ile584Val) g.57095218T>C Copied from the Exome Variant Server SSRP1_000030 7/12994 7/8592 0/4402
?/? c.1758G>A r.(=) p.(=) g.57095210C>T Copied from the Exome Variant Server SSRP1_000029 1/12994 1/8592 0/4402
?/? c.1782+12C>T r.(=) p.(=) g.57095174G>A Copied from the Exome Variant Server SSRP1_000028 1/12994 1/8592 0/4402
?/? c.1782+28C>G r.(=) p.(=) g.57095158G>C Copied from the Exome Variant Server SSRP1_000027 1/12994 0/8592 1/4402
?/? c.1871+7G>A r.(=) p.(=) g.57094893C>T Copied from the Exome Variant Server SSRP1_000026 1/12994 1/8592 0/4402
?/? c.1871+9C>T r.(=) p.(=) g.57094891G>A Copied from the Exome Variant Server SSRP1_000025 1/12994 0/8592 1/4402
?/? c.1871+10G>A r.(=) p.(=) g.57094890C>T Copied from the Exome Variant Server SSRP1_000024 1/12994 1/8592 0/4402
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