Full data view for gene FANCC

Information The variants shown are described using the NM_000136.2 transcript reference sequence.

122 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-29A>C r.(=) p.(=) g.98011602T>G Copied from the Exome Variant Server FANCC_000122 5/13006 2/8600 3/4406 - - - - - - -
?/? c.6T>C r.(=) p.(=) g.98011568A>G Copied from the Exome Variant Server FANCC_000121 1/13006 1/8600 0/4406 - - - - - - -
?/? c.28T>G r.(?) p.(Cys10Gly) g.98011546A>C Copied from the Exome Variant Server FANCC_000120 1/13006 1/8600 0/4406 - - - - - - -
?/? c.29G>A r.(?) p.(Cys10Tyr) g.98011545C>T Copied from the Exome Variant Server FANCC_000119 3/13006 3/8600 0/4406 - - - - - - -
?/? c.65G>A r.(?) p.(Trp22*) g.98011509C>T Copied from the Exome Variant Server FANCC_000118 1/13006 0/8600 1/4406 - - - - - - -
?/? c.67del r.(?) p.(Asp23Ilefs*23) g.98011507del Copied from the Exome Variant Server FANCC_000117 2/12518 2/8254 0/4264 - - - - - - -
?/? c.77C>T r.(?) p.(Ser26Phe) g.98011497G>A Copied from the Exome Variant Server FANCC_000116 65/13006 59/8600 6/4406 - - - - - - -
?/? c.104G>C r.(?) p.(Cys35Ser) g.98011470C>G Copied from the Exome Variant Server FANCC_000115 1/13006 0/8600 1/4406 - - - - - - -
?/? c.165+44G>C r.(=) p.(=) g.98011365C>G Copied from the Exome Variant Server FANCC_000114 1/13006 0/8600 1/4406 - - - - - - -
?/? c.165+45G>A r.(=) p.(=) g.98011364C>T Copied from the Exome Variant Server FANCC_000113 2/13006 0/8600 2/4406 - - - - - - -
?/? c.166-40A>T r.(=) p.(=) g.98009838T>A Copied from the Exome Variant Server FANCC_000112 1/13004 1/8598 0/4406 - - - - - - -
?/? c.166-21A>G r.(=) p.(=) g.98009819T>C Copied from the Exome Variant Server FANCC_000111 2/13006 0/8600 2/4406 - - - - - - -
?/? c.166-9C>G r.(=) p.(=) g.98009807G>C Copied from the Exome Variant Server FANCC_000110 1/13006 1/8600 0/4406 - - - - - - -
?/? c.166-7T>C r.(=) p.(=) g.98009805A>G Copied from the Exome Variant Server FANCC_000109 2/13006 0/8600 2/4406 - - - - - - -
?/? c.176C>T r.(?) p.(Thr59Ile) g.98009788G>A Copied from the Exome Variant Server FANCC_000108 1/13006 1/8600 0/4406 - - - - - - -
?/? c.178G>A r.(?) p.(Val60Ile) g.98009786C>T Copied from the Exome Variant Server FANCC_000107 13/13006 12/8600 1/4406 - - - - - - -
?/? c.191T>G r.(?) p.(Phe64Cys) g.98009773A>C Copied from the Exome Variant Server FANCC_000106 1/13004 1/8598 0/4406 - - - - - - -
?/? c.209T>A r.(?) p.(Leu70Gln) g.98009755A>T Copied from the Exome Variant Server FANCC_000105 1/13004 0/8598 1/4406 - - - - - - -
?/? c.248A>G r.(?) p.(Tyr83Cys) g.98009716T>C Copied from the Exome Variant Server FANCC_000104 2/13006 0/8600 2/4406 - - - - - - -
?/? c.250+15C>T r.(=) p.(=) g.98009699G>A Copied from the Exome Variant Server FANCC_000103 1/13006 1/8600 0/4406 - - - - - - -
?/? c.250+16G>A r.(=) p.(=) g.98009698C>T Copied from the Exome Variant Server FANCC_000102 3/13006 0/8600 3/4406 - - - - - - -
?/? c.250+50T>A r.(=) p.(=) g.98009664A>T Copied from the Exome Variant Server FANCC_000101 1/13006 1/8600 0/4406 - - - - - - -
?/? c.251-20T>C r.(=) p.(=) g.98003045A>G Copied from the Exome Variant Server FANCC_000100 4/12976 4/8580 0/4396 - - - - - - -
?/? c.345+6A>T r.(=) p.(=) g.98002925T>A Copied from the Exome Variant Server FANCC_000099 2/12994 2/8590 0/4404 - - - - - - -
?/? c.345+8_345+9del r.(=) p.(=) g.98002922_98002923del Copied from the Exome Variant Server FANCC_000098 36/12506 20/8244 16/4262 - - - - - - -
?/? c.345+41T>C r.(=) p.(=) g.98002890A>G Copied from the Exome Variant Server FANCC_000097 4/12980 4/8582 0/4398 - - - - - - -
?/? c.345+43G>A r.(=) p.(=) g.98002888C>T Copied from the Exome Variant Server FANCC_000096 9/12978 0/8582 9/4396 - - - - - - -
?/? c.346-47T>C r.(=) p.(=) g.97934476A>G Copied from the Exome Variant Server FANCC_000095 27/12976 3/8572 24/4404 - - - - - - -
?/? c.355_358del r.(?) p.(Ser119Ilefs*24) g.97934417_97934420del Copied from the Exome Variant Server FANCC_000094 5/12506 1/8242 4/4264 - - - - - - -
?/? c.356_360del r.(?) p.(Ser119Tyrfs*8) g.97934415_97934419del Copied from the Exome Variant Server FANCC_000093 4/12506 0/8242 4/4264 - - - - - - -
?/? c.371C>T r.(?) p.(Ala124Val) g.97934404G>A Copied from the Exome Variant Server FANCC_000092 1/13004 1/8598 0/4406 - - - - - - -
?/? c.408A>G r.(=) p.(=) g.97934367T>C Copied from the Exome Variant Server FANCC_000090 333/13006 1/8600 332/4406 - - - - - - -
?/? c.416G>A r.(?) p.(Gly139Glu) g.97934359C>T Copied from the Exome Variant Server FANCC_000088 200/13006 2/8600 198/4406 - - - - - - -
?/? c.456+34T>G r.(=) p.(=) g.97934285A>C Copied from the Exome Variant Server FANCC_000086 8/12982 0/8588 8/4394 - - - - - - -
?/? c.456+51A>T r.(=) p.(=) g.97934268T>A Copied from the Exome Variant Server FANCC_000084 1/12954 1/8584 0/4370 - - - - - - -
?/? c.457-34C>T r.(=) p.(=) g.97933459G>A Copied from the Exome Variant Server FANCC_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.457-33G>A r.(=) p.(=) g.97933458C>T Copied from the Exome Variant Server FANCC_000091 2/13006 0/8600 2/4406 - - - - - - -
?/? c.457-18A>G r.(=) p.(=) g.97933443T>C Copied from the Exome Variant Server FANCC_000089 7/13006 1/8600 6/4406 - - - - - - -
?/? c.468A>G r.(=) p.(=) g.97933414T>C Copied from the Exome Variant Server FANCC_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.487_490del r.(?) p.(Glu163Ilefs*30) g.97933392_97933395del Copied from the Exome Variant Server FANCC_000085 1/12518 0/8254 1/4264 - - - - - - -
?/? c.490A>G r.(?) p.(Asn164Asp) g.97933392T>C Copied from the Exome Variant Server FANCC_000083 1/13006 0/8600 1/4406 - - - - - - -
?/? c.521+1G>A r.spl? p.? g.97933360C>T Copied from the Exome Variant Server FANCC_000081 1/13006 0/8600 1/4406 - - - - - - -
?/? c.522-40G>C r.(=) p.(=) g.97912409C>G Copied from the Exome Variant Server FANCC_000080 1/13006 0/8600 1/4406 - - - - - - -
?/? c.522-30T>A r.(=) p.(=) g.97912399A>T Copied from the Exome Variant Server FANCC_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.522-4A>G r.spl? p.? g.97912373T>C Copied from the Exome Variant Server FANCC_000078 2/13006 0/8600 2/4406 - - - - - - -
?/? c.531C>T r.(=) p.(=) g.97912360G>A Copied from the Exome Variant Server FANCC_000077 2/13006 2/8600 0/4406 - - - - - - -
?/? c.553C>T r.(?) p.(Arg185*) g.97912338G>A Copied from the Exome Variant Server FANCC_000076 3/13006 3/8600 0/4406 - - - - - - -
?/? c.554G>A r.(?) p.(Arg185Gln) g.97912337C>T Copied from the Exome Variant Server FANCC_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.565C>A r.(?) p.(Pro189Thr) g.97912326G>T Copied from the Exome Variant Server FANCC_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.584A>T r.(?) p.(Asp195Val) g.97912307T>A Copied from the Exome Variant Server FANCC_000073 41/13006 40/8600 1/4406 - - - - - - -
?/? c.596T>C r.(?) p.(Leu199Pro) g.97912295A>G Copied from the Exome Variant Server FANCC_000072 1/13006 0/8600 1/4406 - - - - - - -
?/? c.632C>G r.(?) p.(Pro211Arg) g.97912259G>C Copied from the Exome Variant Server FANCC_000071 8/13006 8/8600 0/4406 - - - - - - -
?/? c.672C>T r.(=) p.(=) g.97912219G>A Copied from the Exome Variant Server FANCC_000070 5/13006 0/8600 5/4406 - - - - - - -
?/? c.673G>C r.(?) p.(Glu225Gln) g.97912218C>G Copied from the Exome Variant Server FANCC_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.686T>G r.(?) p.(Leu229Arg) g.97912205A>C Copied from the Exome Variant Server FANCC_000068 1/13004 0/8598 1/4406 - - - - - - -
?/? c.686+30C>T r.(=) p.(=) g.97912175G>A Copied from the Exome Variant Server FANCC_000067 183/12994 1/8592 182/4402 - - - - - - -
?/? c.686+31G>A r.(=) p.(=) g.97912174C>T Copied from the Exome Variant Server FANCC_000066 4/12994 3/8592 1/4402 - - - - - - -
?/? c.686+33C>T r.(=) p.(=) g.97912172G>A Copied from the Exome Variant Server FANCC_000065 19/12988 0/8586 19/4402 - - - - - - -
?/? c.686+34G>A r.(=) p.(=) g.97912171C>T Copied from the Exome Variant Server FANCC_000064 2/12988 2/8586 0/4402 - - - - - - -
?/? c.692_694del r.(?) p.(Lys231del) g.97897777_97897779del Copied from the Exome Variant Server FANCC_000063 1/12516 1/8254 0/4262 - - - - - - -
?/? c.705C>T r.(=) p.(=) g.97897766G>A Copied from the Exome Variant Server FANCC_000062 9/13006 7/8600 2/4406 - - - - - - -
?/? c.816C>T r.(=) p.(=) g.97897655G>A Copied from the Exome Variant Server FANCC_000061 9/13006 0/8600 9/4406 - - - - - - -
?/? c.817G>A r.(?) p.(Glu273Lys) g.97897654C>T Copied from the Exome Variant Server FANCC_000060 4/13006 3/8600 1/4406 - - - - - - -
?/? c.826A>G r.(?) p.(Ile276Val) g.97897645T>C Copied from the Exome Variant Server FANCC_000059 1/13006 1/8600 0/4406 - - - - - - -
?/? c.840G>A r.(=) p.(=) g.97897631C>T Copied from the Exome Variant Server FANCC_000058 22/13006 0/8600 22/4406 - - - - - - -
?/? c.843+4C>T r.spl? p.? g.97897624G>A Copied from the Exome Variant Server FANCC_000057 196/13006 2/8600 194/4406 - - - - - - -
?/? c.843+5G>A r.spl? p.? g.97897623C>T Copied from the Exome Variant Server FANCC_000056 2/13006 1/8600 1/4406 - - - - - - -
?/? c.843+28A>G r.(=) p.(=) g.97897600T>C Copied from the Exome Variant Server FANCC_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.844-68T>G r.(=) p.(=) g.97888931A>C Copied from the Exome Variant Server FANCC_000054 1/4566 1/3182 0/1384 - - - - - - -
?/? c.844-10_844-8del r.(=) p.(=) g.97888871_97888873del Copied from the Exome Variant Server FANCC_000053 1/12518 0/8254 1/4264 - - - - - - -
?/? c.877G>C r.(?) p.(Val293Leu) g.97888830C>G Copied from the Exome Variant Server FANCC_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.896+39A>G r.(=) p.(=) g.97888772T>C Copied from the Exome Variant Server FANCC_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.896+40A>G r.(=) p.(=) g.97888771T>C Copied from the Exome Variant Server FANCC_000050 4/13006 4/8600 0/4406 - - - - - - -
?/? c.897-45G>A r.(=) p.(=) g.97887512C>T Copied from the Exome Variant Server FANCC_000049 14/13006 0/8600 14/4406 - - - - - - -
?/? c.897-19C>T r.(=) p.(=) g.97887486G>A Copied from the Exome Variant Server FANCC_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.915C>T r.(=) p.(=) g.97887449G>A Copied from the Exome Variant Server FANCC_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.934A>G r.(?) p.(Ile312Val) g.97887430T>C Copied from the Exome Variant Server FANCC_000046 5/13006 5/8600 0/4406 - - - - - - -
?/? c.974C>T r.(?) p.(Ala325Val) g.97887390G>A Copied from the Exome Variant Server FANCC_000045 2/13006 0/8600 2/4406 - - - - - - -
?/? c.990C>G r.(?) p.(Ser330Arg) g.97887374G>C Copied from the Exome Variant Server FANCC_000044 2/13006 0/8600 2/4406 - - - - - - -
?/? c.996+1G>T r.spl? p.? g.97887367C>A Copied from the Exome Variant Server FANCC_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.996+6T>C r.(=) p.(=) g.97887362A>G Copied from the Exome Variant Server FANCC_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.996+23del r.(=) p.(=) g.97887345del Copied from the Exome Variant Server FANCC_000041 2/12518 2/8254 0/4264 - - - - - - -
?/? c.996+46C>T r.(=) p.(=) g.97887322G>A Copied from the Exome Variant Server FANCC_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1000C>T r.(?) p.(Arg334Trp) g.97879669G>A Copied from the Exome Variant Server FANCC_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1001G>A r.(?) p.(Arg334Gln) g.97879668C>T Copied from the Exome Variant Server FANCC_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1072+42G>C r.(=) p.(=) g.97879555C>G Copied from the Exome Variant Server FANCC_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1072+49G>C r.(=) p.(=) g.97879548C>G Copied from the Exome Variant Server FANCC_000036 9/13006 0/8600 9/4406 - - - - - - -
?/? c.1073-5C>T r.spl? p.? g.97876997G>A Copied from the Exome Variant Server FANCC_000035 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1155-49G>A r.(=) p.(=) g.97873968C>T Copied from the Exome Variant Server FANCC_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1155-38T>C r.(=) p.(=) g.97873957A>G Copied from the Exome Variant Server FANCC_000033 6032/13006 3408/8600 2624/4406 - - - - - - -
?/? c.1155-23C>T r.(=) p.(=) g.97873942G>A Copied from the Exome Variant Server FANCC_000032 10/13006 0/8600 10/4406 - - - - - - -
?/? c.1156T>C r.(?) p.(Ser386Pro) g.97873918A>G Copied from the Exome Variant Server FANCC_000031 27/13006 0/8600 27/4406 - - - - - - -
?/? c.1162G>A r.(?) p.(Gly388Arg) g.97873912C>T Copied from the Exome Variant Server FANCC_000030 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1249G>A r.(?) p.(Glu417Lys) g.97873825C>T Copied from the Exome Variant Server FANCC_000029 4/13006 3/8600 1/4406 - - - - - - -
?/? c.1297C>T r.(?) p.(Arg433Cys) g.97873777G>A Copied from the Exome Variant Server FANCC_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1327A>G r.(?) p.(Met443Val) g.97873747T>C Copied from the Exome Variant Server FANCC_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1330-49T>G r.(=) p.(=) g.97869600A>C Copied from the Exome Variant Server FANCC_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1330-3C>T r.spl? p.? g.97869554G>A Copied from the Exome Variant Server FANCC_000022 119/13006 0/8600 119/4406 - - - - - - -
?/? c.1345G>A r.(?) p.(Val449Met) g.97869536C>T Copied from the Exome Variant Server FANCC_000020 344/13006 9/8600 335/4406 - - - - - - -
?/? c.1351G>A r.(?) p.(Gly451Ser) g.97869530C>T Copied from the Exome Variant Server FANCC_000018 1/13006 0/8600 1/4406 - - - - - - -
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