All transcript variants in gene FOLH1

Information The variants shown are described using the NM_004476.1 transcript reference sequence.

117 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.-45C>T r.(=) p.(=) g.49230006G>A Copied from the Exome Variant Server FOLH1_000117 1/12528 0/8306 1/4222
?/? c.10C>T r.(?) p.(Leu4Phe) g.49229952G>A Copied from the Exome Variant Server FOLH1_000116 4/12882 4/8522 0/4360
?/? c.14_16del r.(?) p.(Leu5del) g.49229946_49229948del Copied from the Exome Variant Server FOLH1_000115 289/12342 2/8134 287/4208
?/? c.118+7G>A r.(=) p.(=) g.49229837C>T Copied from the Exome Variant Server FOLH1_000114 75/12584 67/8324 8/4260
?/? c.118+11G>C r.(=) p.(=) g.49229833C>G Copied from the Exome Variant Server FOLH1_000113 639/12530 585/8290 54/4240
?/? c.119-20T>C r.(=) p.(=) g.49227744A>G Copied from the Exome Variant Server FOLH1_000112 1/12966 0/8576 1/4390
?/? c.135C>T r.(=) p.(=) g.49227708G>A Copied from the Exome Variant Server FOLH1_000111 6/12970 0/8574 6/4396
?/? c.192A>G r.(=) p.(=) g.49227651T>C Copied from the Exome Variant Server FOLH1_000110 1/12976 1/8578 0/4398
?/? c.210C>A r.(=) p.(=) g.49227633G>T Copied from the Exome Variant Server FOLH1_000109 1/12984 1/8584 0/4400
?/? c.223T>C r.(?) p.(Tyr75His) g.49227620A>G Copied from the Exome Variant Server FOLH1_000108 4229/12986 1924/8586 2305/4400
?/? c.224+14C>T r.(=) p.(=) g.49227605G>A Copied from the Exome Variant Server FOLH1_000107 5/12986 0/8586 5/4400
?/? c.224+30C>T r.(=) p.(=) g.49227589G>A Copied from the Exome Variant Server FOLH1_000106 2/12984 2/8584 0/4400
?/? c.224+49A>T r.(=) p.(=) g.49227570T>A Copied from the Exome Variant Server FOLH1_000105 124/12966 117/8572 7/4394
?/? c.241C>A r.(?) p.(Pro81Thr) g.49221977G>T Copied from the Exome Variant Server FOLH1_000104 1/12996 0/8594 1/4402
?/? c.304G>C r.(?) p.(Glu102Gln) g.49221914C>G Copied from the Exome Variant Server FOLH1_000103 14/12992 14/8596 0/4396
?/? c.327G>A r.(=) p.(=) g.49221891C>T Copied from the Exome Variant Server FOLH1_000102 13/12994 0/8596 13/4398
?/? c.333A>T r.(=) p.(=) g.49221885T>A Copied from the Exome Variant Server FOLH1_000101 4656/12994 2297/8596 2359/4398
?/? c.362A>G r.(?) p.(Asn121Ser) g.49221856T>C Copied from the Exome Variant Server FOLH1_000100 1/12992 1/8594 0/4398
?/? c.382A>G r.(?) p.(Ile128Val) g.49221836T>C Copied from the Exome Variant Server FOLH1_000099 1/12982 1/8584 0/4398
?/? c.395A>G r.(?) p.(Asn132Ser) g.49221823T>C Copied from the Exome Variant Server FOLH1_000098 21/12950 19/8566 2/4384
?/? c.411+21_411+24del r.(=) p.(=) g.49221783_49221786del Copied from the Exome Variant Server FOLH1_000097 31/9702 26/6636 5/3066
?/? c.419A>G r.(?) p.(Asn140Ser) g.49214439T>C Copied from the Exome Variant Server FOLH1_000096 2/12998 2/8596 0/4402
?/? c.420C>A r.(?) p.(Asn140Lys) g.49214438G>T Copied from the Exome Variant Server FOLH1_000095 1/12998 0/8596 1/4402
?/? c.443C>T r.(?) p.(Pro148Leu) g.49214415G>A Copied from the Exome Variant Server FOLH1_000094 1/12998 0/8596 1/4402
?/? c.464C>T r.(?) p.(Ser155Leu) g.49214394G>A Copied from the Exome Variant Server FOLH1_000093 97/12998 0/8596 97/4402
?/? c.465G>A r.(=) p.(=) g.49214393C>T Copied from the Exome Variant Server FOLH1_000092 1/12998 0/8596 1/4402
?/? c.478C>G r.(?) p.(Pro160Ala) g.49214380G>C Copied from the Exome Variant Server FOLH1_000091 19/12996 19/8594 0/4402
?/? c.513+7A>G r.(=) p.(=) g.49214338T>C Copied from the Exome Variant Server FOLH1_000090 2/12990 0/8588 2/4402
?/? c.513+13T>C r.(=) p.(=) g.49214332A>G Copied from the Exome Variant Server FOLH1_000089 1/12988 0/8586 1/4402
?/? c.516C>T r.(=) p.(=) g.49208319G>A Copied from the Exome Variant Server FOLH1_000088 115/12998 46/8596 69/4402
?/? c.537T>C r.(=) p.(=) g.49208298A>G Copied from the Exome Variant Server FOLH1_000087 46/12998 42/8596 4/4402
?/? c.541C>T r.(?) p.(Arg181*) g.49208294G>A Copied from the Exome Variant Server FOLH1_000086 1/12998 0/8596 1/4402
?/? c.569G>A r.(?) p.(Arg190Gln) g.49208266C>T Copied from the Exome Variant Server FOLH1_000085 1/12994 0/8592 1/4402
?/? c.639+18T>A r.(=) p.(=) g.49208178A>T Copied from the Exome Variant Server FOLH1_000084 91/12976 0/8588 91/4388
?/? c.639+32C>A r.(=) p.(=) g.49208164G>T Copied from the Exome Variant Server FOLH1_000083 1/12950 1/8582 0/4368
?/? c.655C>G r.(?) p.(Leu219Val) g.49207392G>C Copied from the Exome Variant Server FOLH1_000082 1/12998 0/8596 1/4402
?/? c.666del r.(?) p.(Gly224Glufs*16) g.49207381del Copied from the Exome Variant Server FOLH1_000081 1/12518 1/8254 0/4264
?/? c.723C>T r.(=) p.(=) g.49207324G>A Copied from the Exome Variant Server FOLH1_000080 1/12998 1/8596 0/4402
?/? c.732T>C r.(=) p.(=) g.49207315A>G Copied from the Exome Variant Server FOLH1_000079 4065/12988 2040/8586 2025/4402
?/? c.764G>A r.(?) p.(Arg255His) g.49207283C>T Copied from the Exome Variant Server FOLH1_000078 1/12996 1/8594 0/4402
?/? c.802C>T r.(?) p.(Leu268Phe) g.49207245G>A Copied from the Exome Variant Server FOLH1_000077 22/12998 18/8596 4/4402
?/? c.814T>A r.(?) p.(Tyr272Asn) g.49207233A>T Copied from the Exome Variant Server FOLH1_000076 1/12998 0/8596 1/4402
?/? c.826+7del r.(=) p.(=) g.49207214del Copied from the Exome Variant Server FOLH1_000075 1/12518 1/8254 0/4264
?/? c.826+13T>A r.(=) p.(=) g.49207208A>T Copied from the Exome Variant Server FOLH1_000074 2/12998 0/8596 2/4402
?/? c.826+29G>A r.(=) p.(=) g.49207192C>T Copied from the Exome Variant Server FOLH1_000073 1/12998 1/8596 0/4402
?/? c.827-51G>A r.(=) p.(=) g.49204845C>T Copied from the Exome Variant Server FOLH1_000072 4/12970 2/8592 2/4378
?/? c.900T>C r.(=) p.(=) g.49204721A>G Copied from the Exome Variant Server FOLH1_000071 14/12998 0/8596 14/4402
?/? c.920+24T>C r.(=) p.(=) g.49204677A>G Copied from the Exome Variant Server FOLH1_000070 3/12998 0/8596 3/4402
?/? c.920+25G>A r.(=) p.(=) g.49204676C>T Copied from the Exome Variant Server FOLH1_000069 1/12998 1/8596 0/4402
?/? c.920+33G>C r.(=) p.(=) g.49204668C>G Copied from the Exome Variant Server FOLH1_000068 1/12998 0/8596 1/4402
?/? c.920+50A>C r.(=) p.(=) g.49204651T>G Copied from the Exome Variant Server FOLH1_000067 1/12998 1/8596 0/4402
?/? c.921-51C>T r.(=) p.(=) g.49197560G>A Copied from the Exome Variant Server FOLH1_000066 1/12998 1/8596 0/4402
?/? c.921-50G>A r.(=) p.(=) g.49197559C>T Copied from the Exome Variant Server FOLH1_000065 1/12998 0/8596 1/4402
?/? c.921-39G>T r.(=) p.(=) g.49197548C>A Copied from the Exome Variant Server FOLH1_000064 425/12998 394/8596 31/4402
?/? c.921-13T>C r.(=) p.(=) g.49197522A>G Copied from the Exome Variant Server FOLH1_000063 1/12998 0/8596 1/4402
?/? c.924A>C r.(?) p.(Lys308Asn) g.49197506T>G Copied from the Exome Variant Server FOLH1_000062 21/12998 18/8596 3/4402
?/? c.938C>T r.(?) p.(Ala313Val) g.49197492G>A Copied from the Exome Variant Server FOLH1_000061 1/12998 0/8596 1/4402
?/? c.978C>G r.(=) p.(=) g.49197452G>C Copied from the Exome Variant Server FOLH1_000060 1/12998 0/8596 1/4402
?/? c.1014T>C r.(=) p.(=) g.49197416A>G Copied from the Exome Variant Server FOLH1_000059 995/12998 781/8596 214/4402
?/? c.1019+13T>C r.(=) p.(=) g.49197398A>G Copied from the Exome Variant Server FOLH1_000058 1/12990 1/8588 0/4402
?/? c.1020-39_1020-38insA r.(=) p.(=) g.49196567_49196568insT Copied from the Exome Variant Server FOLH1_000057 13/12516 1/8252 12/4264
?/? c.1020-27del r.(=) p.(=) g.49196556del Copied from the Exome Variant Server FOLH1_000056 472/12516 203/8252 269/4264
?/? c.1020-27dup r.(=) p.(=) g.49196556dup Copied from the Exome Variant Server FOLH1_000055 84/12516 49/8252 35/4264
?/? c.1020-9_1020-8del r.(=) p.(=) g.49196537_49196538del Copied from the Exome Variant Server FOLH1_000054 1/12518 1/8254 0/4264
?/? c.1078G>A r.(?) p.(Gly360Ser) g.49196471C>T Copied from the Exome Variant Server FOLH1_000053 1/12986 1/8586 0/4400
?/? c.1093G>A r.(?) p.(Ala365Thr) g.49196456C>T Copied from the Exome Variant Server FOLH1_000052 20/12986 0/8586 20/4400
?/? c.1095A>G r.(=) p.(=) g.49196454T>C Copied from the Exome Variant Server FOLH1_000051 1/12984 1/8584 0/4400
?/? c.1105+40C>A r.(=) p.(=) g.49196404G>T Copied from the Exome Variant Server FOLH1_000050 1/12912 0/8540 1/4372
?/? c.1106-38C>A r.(=) p.(=) g.49195066G>T Copied from the Exome Variant Server FOLH1_000049 2/12998 2/8596 0/4402
?/? c.1113T>C r.(=) p.(=) g.49195021A>G Copied from the Exome Variant Server FOLH1_000048 2/12992 0/8590 2/4402
?/? c.1225+12A>G r.(=) p.(=) g.49194897T>C Copied from the Exome Variant Server FOLH1_000047 51/12998 0/8596 51/4402
?/? c.1225+15C>T r.(=) p.(=) g.49194894G>A Copied from the Exome Variant Server FOLH1_000046 4363/12996 1928/8594 2435/4402
?/? c.1225+19A>T r.(=) p.(=) g.49194890T>A Copied from the Exome Variant Server FOLH1_000045 485/12996 452/8594 33/4402
?/? c.1225+34C>T r.(=) p.(=) g.49194875G>A Copied from the Exome Variant Server FOLH1_000044 5/12996 0/8594 5/4402
?/? c.1225+38C>T r.(=) p.(=) g.49194871G>A Copied from the Exome Variant Server FOLH1_000043 3/12996 0/8594 3/4402
?/? c.1225+42G>A r.(=) p.(=) g.49194867C>T Copied from the Exome Variant Server FOLH1_000042 1/12996 0/8594 1/4402
?/? c.1269A>C r.(=) p.(=) g.49192786T>G Copied from the Exome Variant Server FOLH1_000041 5/12928 0/8546 5/4382
?/? c.1289G>A r.(?) p.(Gly430Asp) g.49192766C>T Copied from the Exome Variant Server FOLH1_000040 1/12946 1/8576 0/4370
?/? c.1308+44G>C r.(=) p.(=) g.49192703C>G Copied from the Exome Variant Server FOLH1_000039 1/12932 0/8584 1/4348
?/? c.1308+57A>G r.(=) p.(=) g.49192690T>C Copied from the Exome Variant Server FOLH1_000038 819/4566 431/3182 388/1384
?/? c.1339G>A r.(?) p.(Val447Met) g.49190780C>T Copied from the Exome Variant Server FOLH1_000037 2/12998 2/8596 0/4402
?/? c.1403C>T r.(?) p.(Pro468Leu) g.49186294G>A Copied from the Exome Variant Server FOLH1_000036 1/12982 1/8588 0/4394
?/? c.1423C>T r.(?) p.(His475Tyr) g.49186274G>A Copied from the Exome Variant Server FOLH1_000035 559/12988 438/8594 121/4394
?/? c.1440+17A>G r.(=) p.(=) g.49186240T>C Copied from the Exome Variant Server FOLH1_000034 1/12960 1/8574 0/4386
?/? c.1440+65_1440+66insTAT r.(=) p.(=) g.49186191_49186192insATA Copied from the Exome Variant Server FOLH1_000033 406/12284 329/8102 77/4182
?/? c.1469G>A r.(?) p.(Gly490Asp) g.49179567C>T Copied from the Exome Variant Server FOLH1_000032 1/12990 1/8588 0/4402
?/? c.1532+10T>G r.(=) p.(=) g.49179494A>C Copied from the Exome Variant Server FOLH1_000031 1/12998 1/8596 0/4402
?/? c.1532+14T>C r.(=) p.(=) g.49179490A>G Copied from the Exome Variant Server FOLH1_000030 1/12998 1/8596 0/4402
?/? c.1533-50C>A r.(=) p.(=) g.49178409G>T Copied from the Exome Variant Server FOLH1_000029 12/12986 0/8586 12/4400
?/? c.1533-20T>C r.(=) p.(=) g.49178379A>G Copied from the Exome Variant Server FOLH1_000028 3/12974 0/8578 3/4396
?/? c.1579C>T r.(?) p.(Arg527*) g.49178313G>A Copied from the Exome Variant Server FOLH1_000027 1/12982 1/8580 0/4402
?/? c.1606C>T r.(?) p.(Arg536Trp) g.49178286G>A Copied from the Exome Variant Server FOLH1_000026 1/12994 0/8592 1/4402
?/? c.1623+15A>G r.(=) p.(=) g.49178254T>C Copied from the Exome Variant Server FOLH1_000025 611/12990 480/8590 131/4400
?/? c.1624-14T>C r.(=) p.(=) g.49176058A>G Copied from the Exome Variant Server FOLH1_000024 682/12986 623/8584 59/4402
?/? c.1821T>C r.(=) p.(=) g.49175847A>G Copied from the Exome Variant Server FOLH1_000023 1/12996 1/8594 0/4402
?/? c.1858C>A r.(?) p.(Gln620Lys) g.49175810G>T Copied from the Exome Variant Server FOLH1_000022 1/12998 1/8596 0/4402
?/? c.1877G>A r.(?) p.(Ser626Asn) g.49175791C>T Copied from the Exome Variant Server FOLH1_000021 1/12998 1/8596 0/4402
?/? c.1893A>G r.(=) p.(=) g.49175475T>C Copied from the Exome Variant Server FOLH1_000020 104/12992 96/8592 8/4400
?/? c.1959T>C r.(=) p.(=) g.49175409A>G Copied from the Exome Variant Server FOLH1_000019 1/12994 1/8592 0/4402
?/? c.1970+21C>T r.(=) p.(=) g.49175377G>A Copied from the Exome Variant Server FOLH1_000018 1/12992 0/8592 1/4400
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