All transcript variants in gene CLPTM1

Information The variants shown are described using the NM_001294.2 transcript reference sequence.

151 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.72+43del r.(=) p.(=) g.45458767del Copied from the Exome Variant Server CLPTM1_000001 12/6570 10/4690 2/1880
?/? c.73-43C>T r.(=) p.(=) g.45465177C>T Copied from the Exome Variant Server CLPTM1_000002 2/12976 1/8580 1/4396
?/? c.73-38C>G r.(=) p.(=) g.45465182C>G Copied from the Exome Variant Server CLPTM1_000003 1/12988 1/8588 0/4400
?/? c.73-36A>G r.(=) p.(=) g.45465184A>G Copied from the Exome Variant Server CLPTM1_000004 150/12992 1/8590 149/4402
?/? c.80G>C r.(?) p.(Ser27Thr) g.45465227G>C Copied from the Exome Variant Server CLPTM1_000005 4/13002 3/8598 1/4404
?/? c.94G>A r.(?) p.(Gly32Arg) g.45465241G>A Copied from the Exome Variant Server CLPTM1_000006 7/13002 0/8600 7/4402
?/? c.104C>T r.(?) p.(Pro35Leu) g.45465251C>T Copied from the Exome Variant Server CLPTM1_000007 1/13000 1/8600 0/4400
?/? c.111G>A r.(=) p.(=) g.45465258G>A Copied from the Exome Variant Server CLPTM1_000008 1/12998 0/8600 1/4398
?/? c.116C>T r.(?) p.(Thr39Ile) g.45465263C>T Copied from the Exome Variant Server CLPTM1_000009 2/13000 0/8598 2/4402
?/? c.135G>A r.(=) p.(=) g.45465282G>A Copied from the Exome Variant Server CLPTM1_000010 46/12992 0/8596 46/4396
?/? c.185+32del r.(=) p.(=) g.45465364del Copied from the Exome Variant Server CLPTM1_000011 4867/12472 3351/8238 1516/4234
?/? c.185+37A>G r.(=) p.(=) g.45465369A>G Copied from the Exome Variant Server CLPTM1_000012 173/12952 5/8580 168/4372
?/? c.186-49C>T r.(=) p.(=) g.45476295C>T Copied from the Exome Variant Server CLPTM1_000013 239/13006 0/8600 239/4406
?/? c.186-19T>G r.(=) p.(=) g.45476325T>G Copied from the Exome Variant Server CLPTM1_000014 1/13006 1/8600 0/4406
?/? c.213T>C r.(=) p.(=) g.45476371T>C Copied from the Exome Variant Server CLPTM1_000015 1/13006 0/8600 1/4406
?/? c.224G>A r.(?) p.(Arg75Gln) g.45476382G>A Copied from the Exome Variant Server CLPTM1_000016 1/13006 0/8600 1/4406
?/? c.230C>T r.(?) p.(Pro77Leu) g.45476388C>T Copied from the Exome Variant Server CLPTM1_000017 1/13006 1/8600 0/4406
?/? c.231G>A r.(=) p.(=) g.45476389G>A Copied from the Exome Variant Server CLPTM1_000018 7/13006 0/8600 7/4406
?/? c.249G>A r.(=) p.(=) g.45476407G>A Copied from the Exome Variant Server CLPTM1_000019 1/13006 1/8600 0/4406
?/? c.255C>T r.(=) p.(=) g.45476413C>T Copied from the Exome Variant Server CLPTM1_000020 160/13006 1/8600 159/4406
?/? c.264T>C r.(=) p.(=) g.45476422T>C Copied from the Exome Variant Server CLPTM1_000021 11947/13006 8218/8600 3729/4406
?/? c.274G>A r.(?) p.(Ala92Thr) g.45476432G>A Copied from the Exome Variant Server CLPTM1_000022 1/13006 0/8600 1/4406
?/? c.309+37T>G r.(=) p.(=) g.45476504T>G Copied from the Exome Variant Server CLPTM1_000023 1336/13004 404/8598 932/4406
?/? c.309+41G>T r.(=) p.(=) g.45476508G>T Copied from the Exome Variant Server CLPTM1_000024 21/13004 0/8598 21/4406
?/? c.310-22T>A r.(=) p.(=) g.45477674T>A Copied from the Exome Variant Server CLPTM1_000025 1/13006 1/8600 0/4406
?/? c.310A>C r.(?) p.(Asn104His) g.45477696A>C Copied from the Exome Variant Server CLPTM1_000026 1/13006 1/8600 0/4406
?/? c.345T>C r.(=) p.(=) g.45477731T>C Copied from the Exome Variant Server CLPTM1_000027 84/13006 78/8600 6/4406
?/? c.363G>A r.(=) p.(=) g.45477749G>A Copied from the Exome Variant Server CLPTM1_000028 9/13006 0/8600 9/4406
?/? c.367G>T r.(?) p.(Ala123Ser) g.45477753G>T Copied from the Exome Variant Server CLPTM1_000029 1/13006 1/8600 0/4406
?/? c.414C>T r.(=) p.(=) g.45477800C>T Copied from the Exome Variant Server CLPTM1_000030 2/13006 0/8600 2/4406
?/? c.456C>T r.(=) p.(=) g.45477842C>T Copied from the Exome Variant Server CLPTM1_000031 1/13006 0/8600 1/4406
?/? c.468+5G>A r.spl? p.? g.45477859G>A Copied from the Exome Variant Server CLPTM1_000032 2/13006 1/8600 1/4406
?/? c.468+11C>G r.(=) p.(=) g.45477865C>G Copied from the Exome Variant Server CLPTM1_000033 1/13006 0/8600 1/4406
?/? c.468+22del r.(=) p.(=) g.45477876del Copied from the Exome Variant Server CLPTM1_000034 8/12518 7/8254 1/4264
?/? c.468+46A>C r.(=) p.(=) g.45477900A>C Copied from the Exome Variant Server CLPTM1_000035 1/13006 1/8600 0/4406
?/? c.469-11G>A r.(=) p.(=) g.45480589G>A Copied from the Exome Variant Server CLPTM1_000036 2/13006 0/8600 2/4406
?/? c.469-9_469-8insT r.(=) p.(=) g.45480591_45480592insT Copied from the Exome Variant Server CLPTM1_000037 24/12518 0/8254 24/4264
?/? c.483C>T r.(=) p.(=) g.45480614C>T Copied from the Exome Variant Server CLPTM1_000038 2/13006 2/8600 0/4406
?/? c.556C>T r.(?) p.(Arg186Cys) g.45480687C>T Copied from the Exome Variant Server CLPTM1_000039 57/13006 1/8600 56/4406
?/? c.577A>G r.(?) p.(Met193Val) g.45480708A>G Copied from the Exome Variant Server CLPTM1_000040 14/13006 0/8600 14/4406
?/? c.586+7C>T r.(=) p.(=) g.45480724C>T Copied from the Exome Variant Server CLPTM1_000041 5/13006 5/8600 0/4406
?/? c.586+8G>T r.(=) p.(=) g.45480725G>T Copied from the Exome Variant Server CLPTM1_000042 15/13006 0/8600 15/4406
?/? c.587-42A>G r.(=) p.(=) g.45488434A>G Copied from the Exome Variant Server CLPTM1_000043 11953/13006 8214/8600 3739/4406
?/? c.654G>A r.(=) p.(=) g.45488543G>A Copied from the Exome Variant Server CLPTM1_000044 6/13006 6/8600 0/4406
?/? c.657C>T r.(=) p.(=) g.45488546C>T Copied from the Exome Variant Server CLPTM1_000045 1/13006 0/8600 1/4406
?/? c.672+6T>C r.(=) p.(=) g.45488567T>C Copied from the Exome Variant Server CLPTM1_000046 11957/13006 8219/8600 3738/4406
?/? c.672+42G>T r.(=) p.(=) g.45488603G>T Copied from the Exome Variant Server CLPTM1_000047 1/13006 1/8600 0/4406
?/? c.673-39C>T r.(=) p.(=) g.45489674C>T Copied from the Exome Variant Server CLPTM1_000048 140/13006 129/8600 11/4406
?/? c.673-13C>T r.(=) p.(=) g.45489700C>T Copied from the Exome Variant Server CLPTM1_000049 67/13006 1/8600 66/4406
?/? c.673-12del r.(=) p.(=) g.45489701del Copied from the Exome Variant Server CLPTM1_000050 2/12518 0/8254 2/4264
?/? c.678T>C r.(=) p.(=) g.45489718T>C Copied from the Exome Variant Server CLPTM1_000051 1/13006 0/8600 1/4406
?/? c.735C>T r.(=) p.(=) g.45489775C>T Copied from the Exome Variant Server CLPTM1_000052 1/13006 0/8600 1/4406
?/? c.742G>A r.(?) p.(Asp248Asn) g.45489782G>A Copied from the Exome Variant Server CLPTM1_000053 1/13006 0/8600 1/4406
?/? c.744C>T r.(=) p.(=) g.45489784C>T Copied from the Exome Variant Server CLPTM1_000054 1/13006 0/8600 1/4406
?/? c.792A>G r.(=) p.(=) g.45489832A>G Copied from the Exome Variant Server CLPTM1_000055 3/13006 3/8600 0/4406
?/? c.793+26C>T r.(=) p.(=) g.45489859C>T Copied from the Exome Variant Server CLPTM1_000056 2/13006 2/8600 0/4406
?/? c.793+52G>A r.(=) p.(=) g.45489885G>A Copied from the Exome Variant Server CLPTM1_000057 3/7272 0/4618 3/2654
?/? c.794-34G>A r.(=) p.(=) g.45490403G>A Copied from the Exome Variant Server CLPTM1_000058 2/13006 2/8600 0/4406
?/? c.794-9G>A r.(=) p.(=) g.45490428G>A Copied from the Exome Variant Server CLPTM1_000059 887/13006 397/8600 490/4406
?/? c.794-7G>A r.(=) p.(=) g.45490430G>A Copied from the Exome Variant Server CLPTM1_000060 2/13006 0/8600 2/4406
?/? c.804C>T r.(=) p.(=) g.45490447C>T Copied from the Exome Variant Server CLPTM1_000061 4/13006 3/8600 1/4406
?/? c.810C>T r.(=) p.(=) g.45490453C>T Copied from the Exome Variant Server CLPTM1_000062 1/13006 0/8600 1/4406
?/? c.817G>A r.(?) p.(Gly273Ser) g.45490460G>A Copied from the Exome Variant Server CLPTM1_000063 1/13006 1/8600 0/4406
?/? c.835A>G r.(?) p.(Ile279Val) g.45490478A>G Copied from the Exome Variant Server CLPTM1_000064 2/13006 1/8600 1/4406
?/? c.886G>A r.(?) p.(Glu296Lys) g.45490529G>A Copied from the Exome Variant Server CLPTM1_000065 3/13006 3/8600 0/4406
?/? c.911G>A r.(?) p.(Arg304His) g.45490554G>A Copied from the Exome Variant Server CLPTM1_000066 1/13006 1/8600 0/4406
?/? c.913G>A r.(?) p.(Val305Ile) g.45490556G>A Copied from the Exome Variant Server CLPTM1_000067 1/13006 0/8600 1/4406
?/? c.927A>G r.(=) p.(=) g.45490570A>G Copied from the Exome Variant Server CLPTM1_000068 4895/13006 2764/8600 2131/4406
?/? c.993T>C r.(=) p.(=) g.45490636T>C Copied from the Exome Variant Server CLPTM1_000069 6913/13006 5455/8600 1458/4406
?/? c.1005C>T r.(=) p.(=) g.45490648C>T Copied from the Exome Variant Server CLPTM1_000070 1/13006 0/8600 1/4406
?/? c.1006G>A r.(?) p.(Glu336Lys) g.45490649G>A Copied from the Exome Variant Server CLPTM1_000071 1/13006 0/8600 1/4406
?/? c.1038+12C>T r.(=) p.(=) g.45490693C>T Copied from the Exome Variant Server CLPTM1_000072 81/13006 1/8600 80/4406
?/? c.1038+21C>T r.(=) p.(=) g.45490702C>T Copied from the Exome Variant Server CLPTM1_000073 179/13006 155/8600 24/4406
?/? c.1038+31C>T r.(=) p.(=) g.45490712C>T Copied from the Exome Variant Server CLPTM1_000074 4/13006 4/8600 0/4406
?/? c.1039-28A>G r.(=) p.(=) g.45491310A>G Copied from the Exome Variant Server CLPTM1_000075 1/13006 0/8600 1/4406
?/? c.1039-13G>A r.(=) p.(=) g.45491325G>A Copied from the Exome Variant Server CLPTM1_000076 1/13006 0/8600 1/4406
?/? c.1050G>A r.(=) p.(=) g.45491349G>A Copied from the Exome Variant Server CLPTM1_000077 1/13006 0/8600 1/4406
?/? c.1095C>T r.(=) p.(=) g.45491394C>T Copied from the Exome Variant Server CLPTM1_000078 2/13006 1/8600 1/4406
?/? c.1117C>T r.(=) p.(=) g.45491416C>T Copied from the Exome Variant Server CLPTM1_000079 1/13006 1/8600 0/4406
?/? c.1133-49T>G r.(=) p.(=) g.45493604T>G Copied from the Exome Variant Server CLPTM1_000080 4/13006 0/8600 4/4406
?/? c.1133-24T>C r.(=) p.(=) g.45493629T>C Copied from the Exome Variant Server CLPTM1_000081 1/13006 1/8600 0/4406
?/? c.1133-18C>G r.(=) p.(=) g.45493635C>G Copied from the Exome Variant Server CLPTM1_000082 6666/13006 4711/8600 1955/4406
?/? c.1133-13C>G r.(=) p.(=) g.45493640C>G Copied from the Exome Variant Server CLPTM1_000083 80/13006 1/8600 79/4406
?/? c.1133-11C>G r.(=) p.(=) g.45493642C>G Copied from the Exome Variant Server CLPTM1_000084 3/13006 3/8600 0/4406
?/? c.1133-6G>A r.(=) p.(=) g.45493647G>A Copied from the Exome Variant Server CLPTM1_000085 1/13006 1/8600 0/4406
?/? c.1140G>A r.(=) p.(=) g.45493660G>A Copied from the Exome Variant Server CLPTM1_000086 2/13006 0/8600 2/4406
?/? c.1189T>G r.(?) p.(Phe397Val) g.45493709T>G Copied from the Exome Variant Server CLPTM1_000087 4/13006 1/8600 3/4406
?/? c.1195G>A r.(?) p.(Gly399Ser) g.45493715G>A Copied from the Exome Variant Server CLPTM1_000088 1/13006 0/8600 1/4406
?/? c.1216G>A r.(?) p.(Val406Ile) g.45493736G>A Copied from the Exome Variant Server CLPTM1_000089 1/13006 1/8600 0/4406
?/? c.1239C>T r.(=) p.(=) g.45493759C>T Copied from the Exome Variant Server CLPTM1_000090 1/13006 1/8600 0/4406
?/? c.1251C>T r.(=) p.(=) g.45493771C>T Copied from the Exome Variant Server CLPTM1_000091 2/13006 0/8600 2/4406
?/? c.1274T>C r.(?) p.(Ile425Thr) g.45493794T>C Copied from the Exome Variant Server CLPTM1_000092 1/13006 1/8600 0/4406
?/? c.1284C>T r.(=) p.(=) g.45493804C>T Copied from the Exome Variant Server CLPTM1_000093 170/13006 2/8600 168/4406
?/? c.1323+14G>A r.(=) p.(=) g.45493857G>A Copied from the Exome Variant Server CLPTM1_000094 1/13006 0/8600 1/4406
?/? c.1323+27G>T r.(=) p.(=) g.45493870G>T Copied from the Exome Variant Server CLPTM1_000095 1/13004 0/8600 1/4404
?/? c.1335G>T r.(?) p.(Glu445Asp) g.45494119G>T Copied from the Exome Variant Server CLPTM1_000096 1/13006 1/8600 0/4406
?/? c.1376A>G r.(?) p.(Asp459Gly) g.45494160A>G Copied from the Exome Variant Server CLPTM1_000097 2/13006 0/8600 2/4406
?/? c.1419+44_1419+45insC r.(=) p.(=) g.45494247_45494248insC Copied from the Exome Variant Server CLPTM1_000098 12480/12514 8223/8250 4257/4264
?/? c.1419+49G>A r.(=) p.(=) g.45494252G>A Copied from the Exome Variant Server CLPTM1_000099 26/13000 0/8596 26/4404
?/? c.1420-14C>G r.(=) p.(=) g.45494482C>G Copied from the Exome Variant Server CLPTM1_000100 1/13006 0/8600 1/4406
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