Full data view for gene PHF21A

Information The variants shown are described using the NM_016621.3 transcript reference sequence.

124 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.-73_-69del r.(=) p.(=) g.46105839_46105843del Copied from the Exome Variant Server PHF21A_000124 4/12508 1/8252 3/4256 - - - - - - -
?/? c.16C>T r.(=) p.(=) g.46105755G>A Copied from the Exome Variant Server PHF21A_000123 1/13000 0/8598 1/4402 - - - - - - -
?/? c.54+29C>T r.(=) p.(=) g.46105688G>A Copied from the Exome Variant Server PHF21A_000122 11618/13000 7923/8598 3695/4402 - - - - - - -
?/? c.55-63C>T r.(=) p.(=) g.46100780G>A Copied from the Exome Variant Server PHF21A_000121 1/4560 0/3176 1/1384 - - - - - - -
?/? c.55-48G>A r.(=) p.(=) g.46100765C>T Copied from the Exome Variant Server PHF21A_000120 1/12996 0/8592 1/4404 - - - - - - -
?/? c.55-22C>T r.(=) p.(=) g.46100739G>A Copied from the Exome Variant Server PHF21A_000119 1/12998 0/8594 1/4404 - - - - - - -
?/? c.55-21T>A r.(=) p.(=) g.46100738A>T Copied from the Exome Variant Server PHF21A_000118 1/12998 1/8594 0/4404 - - - - - - -
?/? c.55-14C>G r.(=) p.(=) g.46100731G>C Copied from the Exome Variant Server PHF21A_000117 1/13000 1/8596 0/4404 - - - - - - -
?/? c.88-37A>T r.(=) p.(=) g.46098407T>A Copied from the Exome Variant Server PHF21A_000116 3/13002 0/8598 3/4404 - - - - - - -
?/? c.88-30_88-29del r.(=) p.(=) g.46098399_46098400del Copied from the Exome Variant Server PHF21A_000115 2/12516 0/8252 2/4264 - - - - - - -
?/? c.95A>G r.(?) p.(Asp32Gly) g.46098363T>C Copied from the Exome Variant Server PHF21A_000113 1/13002 1/8598 0/4404 - - - - - - -
?/? c.153+14G>C r.(=) p.(=) g.46098291C>G Copied from the Exome Variant Server PHF21A_000111 3/13002 3/8598 0/4404 - - - - - - -
?/? c.153+17G>A r.(=) p.(=) g.46098288C>T Copied from the Exome Variant Server PHF21A_000109 1/13002 1/8598 0/4404 - - - - - - -
?/? c.153+44T>C r.(=) p.(=) g.46098261A>G Copied from the Exome Variant Server PHF21A_000107 1/13002 1/8598 0/4404 - - - - - - -
?/? c.165T>C r.(=) p.(=) g.46001506A>G Copied from the Exome Variant Server PHF21A_000114 4/13002 0/8598 4/4404 - - - - - - -
?/? c.234A>G r.(=) p.(=) g.46001437T>C Copied from the Exome Variant Server PHF21A_000112 2/13002 2/8598 0/4404 - - - - - - -
?/? c.290A>C r.(?) p.(Gln97Pro) g.46001381T>G Copied from the Exome Variant Server PHF21A_000110 1/13002 0/8598 1/4404 - - - - - - -
?/? c.291A>G r.(=) p.(=) g.46001380T>C Copied from the Exome Variant Server PHF21A_000108 3/13002 0/8598 3/4404 - - - - - - -
?/? c.293_294insACA r.(?) p.(Gln100dup) g.46001377_46001378insTGT Copied from the Exome Variant Server PHF21A_000106 1/12518 0/8254 1/4264 - - - - - - -
?/? c.315C>T r.(=) p.(=) g.46001356G>A Copied from the Exome Variant Server PHF21A_000105 2/13002 1/8598 1/4404 - - - - - - -
?/? c.344A>G r.(?) p.(Asn115Ser) g.46001327T>C Copied from the Exome Variant Server PHF21A_000103 8/13002 8/8598 0/4404 - - - - - - -
?/? c.360+3A>G r.spl? p.? g.46001308T>C Copied from the Exome Variant Server PHF21A_000101 26/13002 2/8598 24/4404 - - - - - - -
?/? c.360+11G>A r.(=) p.(=) g.46001300C>T Copied from the Exome Variant Server PHF21A_000099 1/13002 1/8598 0/4404 - - - - - - -
?/? c.449T>C r.(?) p.(Val150Ala) g.45992830A>G Copied from the Exome Variant Server PHF21A_000097 1/13002 1/8598 0/4404 - - - - - - -
?/? c.480C>T r.(=) p.(=) g.45992799G>A Copied from the Exome Variant Server PHF21A_000095 3/13002 2/8598 1/4404 - - - - - - -
?/? c.484A>G r.(?) p.(Ile162Val) g.45992795T>C Copied from the Exome Variant Server PHF21A_000093 1/13002 0/8598 1/4404 - - - - - - -
?/? c.531A>G r.(=) p.(=) g.45992748T>C Copied from the Exome Variant Server PHF21A_000091 1/13002 0/8598 1/4404 - - - - - - -
?/? c.612+21C>T r.(=) p.(=) g.45992646G>A Copied from the Exome Variant Server PHF21A_000104 1/13002 0/8598 1/4404 - - - - - - -
?/? c.612+26G>T r.(=) p.(=) g.45992641C>A Copied from the Exome Variant Server PHF21A_000102 1/13002 1/8598 0/4404 - - - - - - -
?/? c.612+33C>T r.(=) p.(=) g.45992634G>A Copied from the Exome Variant Server PHF21A_000100 1/13002 1/8598 0/4404 - - - - - - -
?/? c.612+51C>T r.(=) p.(=) g.45992616G>A Copied from the Exome Variant Server PHF21A_000098 10/13002 3/8598 7/4404 - - - - - - -
?/? c.613-3del r.spl? p.? g.45991458del Copied from the Exome Variant Server PHF21A_000096 4/12518 2/8254 2/4264 - - - - - - -
?/? c.664C>G r.(?) p.(Pro222Ala) g.45991404G>C Copied from the Exome Variant Server PHF21A_000094 1/13002 0/8598 1/4404 - - - - - - -
?/? c.675C>G r.(=) p.(=) g.45991393G>C Copied from the Exome Variant Server PHF21A_000092 1/13002 0/8598 1/4404 - - - - - - -
?/? c.683G>A r.(?) p.(Arg228His) g.45991385C>T Copied from the Exome Variant Server PHF21A_000090 2/13002 0/8598 2/4404 - - - - - - -
?/? c.702+13A>G r.(=) p.(=) g.45991353T>C Copied from the Exome Variant Server PHF21A_000089 1/13002 0/8598 1/4404 - - - - - - -
?/? c.702+25A>G r.(=) p.(=) g.45991341T>C Copied from the Exome Variant Server PHF21A_000088 2/13002 2/8598 0/4404 - - - - - - -
?/? c.702+54A>G r.(=) p.(=) g.45991312T>C Copied from the Exome Variant Server PHF21A_000087 1/4566 0/3182 1/1384 - - - - - - -
?/? c.703-26A>G r.(=) p.(=) g.45987185T>C Copied from the Exome Variant Server PHF21A_000086 1/13002 1/8598 0/4404 - - - - - - -
?/? c.753A>G r.(=) p.(=) g.45987109T>C Copied from the Exome Variant Server PHF21A_000085 4/13002 4/8598 0/4404 - - - - - - -
?/? c.765C>T r.(=) p.(=) g.45987097G>A Copied from the Exome Variant Server PHF21A_000084 3/13002 3/8598 0/4404 - - - - - - -
?/? c.771T>A r.(=) p.(=) g.45987091A>T Copied from the Exome Variant Server PHF21A_000083 67/13002 61/8598 6/4404 - - - - - - -
?/? c.772C>A r.(?) p.(Pro258Thr) g.45987090G>T Copied from the Exome Variant Server PHF21A_000082 1/13002 1/8598 0/4404 - - - - - - -
?/? c.786G>A r.(=) p.(=) g.45987076C>T Copied from the Exome Variant Server PHF21A_000081 1/13002 1/8598 0/4404 - - - - - - -
?/? c.853G>A r.(?) p.(Val285Ile) g.45987009C>T Copied from the Exome Variant Server PHF21A_000080 2/13002 2/8598 0/4404 - - - - - - -
?/? c.862G>A r.(?) p.(Val288Ile) g.45987000C>T Copied from the Exome Variant Server PHF21A_000079 1/13002 0/8598 1/4404 - - - - - - -
?/? c.882C>T r.(=) p.(=) g.45986980G>A Copied from the Exome Variant Server PHF21A_000078 39/13002 31/8598 8/4404 - - - - - - -
?/? c.949G>A r.(?) p.(Ala317Thr) g.45986913C>T Copied from the Exome Variant Server PHF21A_000077 3/13002 0/8598 3/4404 - - - - - - -
?/? c.960A>G r.(=) p.(=) g.45986902T>C Copied from the Exome Variant Server PHF21A_000076 15/13002 0/8598 15/4404 - - - - - - -
?/? c.971T>C r.(?) p.(Leu324Pro) g.45986891A>G Copied from the Exome Variant Server PHF21A_000075 1/13002 0/8598 1/4404 - - - - - - -
?/? c.996+14A>G r.(=) p.(=) g.45986852T>C Copied from the Exome Variant Server PHF21A_000074 9/13002 9/8598 0/4404 - - - - - - -
?/? c.996+43G>A r.(=) p.(=) g.45986823C>T Copied from the Exome Variant Server PHF21A_000073 1/13000 0/8598 1/4402 - - - - - - -
?/? c.996+51A>G r.(=) p.(=) g.45986815T>C Copied from the Exome Variant Server PHF21A_000072 1/13000 1/8598 0/4402 - - - - - - -
?/? c.997-43T>A r.(=) p.(=) g.45975219A>T Copied from the Exome Variant Server PHF21A_000071 2/12970 2/8578 0/4392 - - - - - - -
?/? c.997-36C>T r.(=) p.(=) g.45975212G>A Copied from the Exome Variant Server PHF21A_000070 100/12986 33/8586 67/4400 - - - - - - -
?/? c.997-20A>G r.(=) p.(=) g.45975196T>C Copied from the Exome Variant Server PHF21A_000069 38/13002 0/8598 38/4404 - - - - - - -
?/? c.1039A>G r.(?) p.(Ser347Gly) g.45975134T>C Copied from the Exome Variant Server PHF21A_000068 1/13002 1/8598 0/4404 - - - - - - -
?/? c.1042C>T r.(?) p.(Arg348Cys) g.45975131G>A Copied from the Exome Variant Server PHF21A_000067 1/13002 0/8598 1/4404 - - - - - - -
?/? c.1043G>A r.(?) p.(Arg348His) g.45975130C>T Copied from the Exome Variant Server PHF21A_000066 382/13002 314/8598 68/4404 - - - - - - -
?/? c.1046C>G r.(?) p.(Thr349Ser) g.45975127G>C Copied from the Exome Variant Server PHF21A_000065 1/13002 0/8598 1/4404 - - - - - - -
?/? c.1063G>A r.(?) p.(Ala355Thr) g.45975110C>T Copied from the Exome Variant Server PHF21A_000064 1/13002 1/8598 0/4404 - - - - - - -
?/? c.1095+35A>G r.(=) p.(=) g.45975043T>C Copied from the Exome Variant Server PHF21A_000063 2/13002 2/8598 0/4404 - - - - - - -
?/? c.1095+36T>C r.(=) p.(=) g.45975042A>G Copied from the Exome Variant Server PHF21A_000061 4/13002 4/8598 0/4404 - - - - - - -
?/? c.1096-71A>G r.(=) p.(=) g.45971879T>C Copied from the Exome Variant Server PHF21A_000059 2/4566 2/3182 0/1384 - - - - - - -
?/? c.1096-17T>C r.(=) p.(=) g.45971825A>G Copied from the Exome Variant Server PHF21A_000058 1/13002 1/8598 0/4404 - - - - - - -
?/? c.1113G>A r.(=) p.(=) g.45971791C>T Copied from the Exome Variant Server PHF21A_000056 1/13002 1/8598 0/4404 - - - - - - -
?/? c.1147+40C>T r.(=) p.(=) g.45971717G>A Copied from the Exome Variant Server PHF21A_000054 30/13002 29/8598 1/4404 - - - - - - -
?/? c.1148-4C>G r.spl? p.? g.45971036G>C Copied from the Exome Variant Server PHF21A_000052 1/13002 1/8598 0/4404 - - - - - - -
?/? c.1227+17T>A r.(=) p.(=) g.45970936A>T Copied from the Exome Variant Server PHF21A_000050 3/13002 1/8598 2/4404 - - - - - - -
?/? c.1227+35T>A r.(=) p.(=) g.45970918A>T Copied from the Exome Variant Server PHF21A_000047 1/13002 0/8598 1/4404 - - - - - - -
?/? c.1228-54A>G r.(=) p.(=) g.45970551T>C Copied from the Exome Variant Server PHF21A_000045 3/4566 0/3182 3/1384 - - - - - - -
?/? c.1246A>G r.(?) p.(Thr416Ala) g.45970479T>C Copied from the Exome Variant Server PHF21A_000043 1/13002 1/8598 0/4404 - - - - - - -
?/? c.1288+44C>G r.(=) p.(=) g.45970393G>C Copied from the Exome Variant Server PHF21A_000040 1/13002 0/8598 1/4404 - - - - - - -
?/? c.1288+57_1288+58insGT r.(=) p.(=) g.45970379_45970380insAC Copied from the Exome Variant Server PHF21A_000036 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1289-86G>C r.(=) p.(=) g.45967735C>G Copied from the Exome Variant Server PHF21A_000033 1/4566 0/3182 1/1384 - - - - - - -
?/? c.1289-34T>A r.(=) p.(=) g.45967683A>T Copied from the Exome Variant Server PHF21A_000030 1/13002 1/8598 0/4404 - - - - - - -
?/? c.1311+37C>T r.(=) p.(=) g.45967590G>A Copied from the Exome Variant Server PHF21A_000027 28/13002 2/8598 26/4404 - - - - - - -
?/? c.1311+38G>A r.(=) p.(=) g.45967589C>T Copied from the Exome Variant Server PHF21A_000062 1/13002 1/8598 0/4404 - - - - - - -
?/? c.1311+68T>C r.(=) p.(=) g.45967559A>G Copied from the Exome Variant Server PHF21A_000060 1/13002 0/8598 1/4404 - - - - - - -
?/? c.1311+123A>G r.(=) p.(=) g.45967504T>C Copied from the Exome Variant Server PHF21A_000057 1/13002 1/8598 0/4404 - - - - - - -
?/? c.1311+184C>T r.(=) p.(=) g.45967443G>A Copied from the Exome Variant Server PHF21A_000055 1/12908 1/8558 0/4350 - - - - - - -
?/? c.1311+263T>A r.(=) p.(=) g.45967364A>T Copied from the Exome Variant Server PHF21A_000053 2/12510 2/8406 0/4104 - - - - - - -
?/? c.1312-35_1312-34insT r.(=) p.(=) g.45959897_45959898insA Copied from the Exome Variant Server PHF21A_000051 2/12518 2/8254 0/4264 - - - - - - -
?/? c.1312-16C>T r.(=) p.(=) g.45959879G>A Copied from the Exome Variant Server PHF21A_000049 1/13002 1/8598 0/4404 - - - - - - -
?/? c.1312-6T>G r.(=) p.(=) g.45959869A>C Copied from the Exome Variant Server PHF21A_000048 13/13002 0/8598 13/4404 - - - - - - -
?/? c.1339G>A r.(?) p.(Val447Ile) g.45959836C>T Copied from the Exome Variant Server PHF21A_000046 1/13002 1/8598 0/4404 - - - - - - -
?/? c.1371C>T r.(=) p.(=) g.45959804G>A Copied from the Exome Variant Server PHF21A_000044 1/13002 0/8598 1/4404 - - - - - - -
?/? c.1410C>A r.(?) p.(Asp470Glu) g.45959765G>T Copied from the Exome Variant Server PHF21A_000041 1/13002 0/8598 1/4404 - - - - - - -
?/? c.1467+30G>A r.(=) p.(=) g.45959678C>T Copied from the Exome Variant Server PHF21A_000038 1/13002 0/8598 1/4404 - - - - - - -
?/? c.1467+39G>A r.(=) p.(=) g.45959669C>T Copied from the Exome Variant Server PHF21A_000035 11018/13002 7769/8598 3249/4404 - - - - - - -
?/? c.1468-16C>G r.(=) p.(=) g.45958136G>C Copied from the Exome Variant Server PHF21A_000031 1/13002 1/8598 0/4404 - - - - - - -
?/? c.1543+7A>G r.(=) p.(=) g.45958038T>C Copied from the Exome Variant Server PHF21A_000028 1/13002 1/8598 0/4404 - - - - - - -
?/? c.1543+54_1543+55insA r.(=) p.(=) g.45957990_45957991insT Copied from the Exome Variant Server PHF21A_000025 2/12518 1/8254 1/4264 - - - - - - -
?/? c.1544-49G>C r.(=) p.(=) g.45957339C>G Copied from the Exome Variant Server PHF21A_000024 13/12968 11/8572 2/4396 - - - - - - -
?/? c.1544-44_1544-41del r.(=) p.(=) g.45957331_45957334del Copied from the Exome Variant Server PHF21A_000022 2/12498 1/8242 1/4256 - - - - - - -
?/? c.1544-31C>G r.(=) p.(=) g.45957321G>C Copied from the Exome Variant Server PHF21A_000020 1/13000 0/8596 1/4404 - - - - - - -
?/? c.1544-30G>A r.(=) p.(=) g.45957320C>T Copied from the Exome Variant Server PHF21A_000018 2/13000 2/8596 0/4404 - - - - - - -
?/? c.1648-34G>A r.(=) p.(=) g.45955810C>T Copied from the Exome Variant Server PHF21A_000016 1/13002 0/8598 1/4404 - - - - - - -
?/? c.1648-25C>G r.(=) p.(=) g.45955801G>C Copied from the Exome Variant Server PHF21A_000014 1/13002 1/8598 0/4404 - - - - - - -
?/? c.1650A>G r.(=) p.(=) g.45955774T>C Copied from the Exome Variant Server PHF21A_000012 1/13002 1/8598 0/4404 - - - - - - -
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