Full data view for gene APBA2

Information The variants shown are described using the NM_005503.3 transcript reference sequence.

195 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.-30C>T r.(=) p.(=) g.29346058C>T Copied from the Exome Variant Server APBA2_000001 2/13000 0/8598 2/4402 - - - - - - -
?/? c.-29G>A r.(=) p.(=) g.29346059G>A Copied from the Exome Variant Server APBA2_000002 89/13002 1/8598 88/4404 - - - - - - -
?/? c.-14T>C r.(=) p.(=) g.29346074T>C Copied from the Exome Variant Server APBA2_000003 409/13004 1/8600 408/4404 - - - - - - -
?/? c.-7G>A r.(=) p.(=) g.29346081G>A Copied from the Exome Variant Server APBA2_000004 1/13004 0/8600 1/4404 - - - - - - -
?/? c.33C>T r.(=) p.(=) g.29346120C>T Copied from the Exome Variant Server APBA2_000005 94/13004 1/8600 93/4404 - - - - - - -
?/? c.34G>A r.(?) p.(Gly12Ser) g.29346121G>A Copied from the Exome Variant Server APBA2_000006 5/13004 0/8600 5/4404 - - - - - - -
?/? c.44A>T r.(?) p.(Asp15Val) g.29346131A>T Copied from the Exome Variant Server APBA2_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? c.64C>A r.(?) p.(Pro22Thr) g.29346151C>A Copied from the Exome Variant Server APBA2_000008 10/13006 9/8600 1/4406 - - - - - - -
?/? c.77G>T r.(?) p.(Ser26Ile) g.29346164G>T Copied from the Exome Variant Server APBA2_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.130G>A r.(?) p.(Glu44Lys) g.29346217G>A Copied from the Exome Variant Server APBA2_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.155G>A r.(?) p.(Arg52Gln) g.29346242G>A Copied from the Exome Variant Server APBA2_000011 173/13006 158/8600 15/4406 - - - - - - -
?/? c.164G>A r.(?) p.(Ser55Asn) g.29346251G>A Copied from the Exome Variant Server APBA2_000012 50/13006 47/8600 3/4406 - - - - - - -
?/? c.168C>T r.(=) p.(=) g.29346255C>T Copied from the Exome Variant Server APBA2_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.169G>A r.(?) p.(Ala57Thr) g.29346256G>A Copied from the Exome Variant Server APBA2_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.170C>T r.(?) p.(Ala57Val) g.29346257C>T Copied from the Exome Variant Server APBA2_000015 9/13006 6/8600 3/4406 - - - - - - -
?/? c.171G>A r.(=) p.(=) g.29346258G>A Copied from the Exome Variant Server APBA2_000016 2/13006 2/8600 0/4406 - - - - - - -
?/? c.216C>T r.(=) p.(=) g.29346303C>T Copied from the Exome Variant Server APBA2_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.219C>T r.(=) p.(=) g.29346306C>T Copied from the Exome Variant Server APBA2_000018 7/13006 6/8600 1/4406 - - - - - - -
?/? c.229G>A r.(?) p.(Val77Met) g.29346316G>A Copied from the Exome Variant Server APBA2_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.231G>A r.(=) p.(=) g.29346318G>A Copied from the Exome Variant Server APBA2_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.261C>T r.(=) p.(=) g.29346348C>T Copied from the Exome Variant Server APBA2_000021 174/13006 0/8600 174/4406 - - - - - - -
?/? c.279G>A r.(=) p.(=) g.29346366G>A Copied from the Exome Variant Server APBA2_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.288C>A r.(=) p.(=) g.29346375C>A Copied from the Exome Variant Server APBA2_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.303C>T r.(=) p.(=) g.29346390C>T Copied from the Exome Variant Server APBA2_000024 32/13006 0/8600 32/4406 - - - - - - -
?/? c.321C>T r.(=) p.(=) g.29346408C>T Copied from the Exome Variant Server APBA2_000026 1/13006 0/8600 1/4406 - - - - - - -
?/? c.357G>A r.(=) p.(=) g.29346444G>A Copied from the Exome Variant Server APBA2_000025 1/13006 0/8600 1/4406 - - - - - - -
?/? c.381C>T r.(=) p.(=) g.29346468C>T Copied from the Exome Variant Server APBA2_000027 85/13006 75/8600 10/4406 - - - - - - -
?/? c.410C>T r.(?) p.(Ala137Val) g.29346497C>T Copied from the Exome Variant Server APBA2_000028 8/13006 8/8600 0/4406 - - - - - - -
?/? c.425C>T r.(?) p.(Thr142Met) g.29346512C>T Copied from the Exome Variant Server APBA2_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.431C>T r.(?) p.(Ser144Leu) g.29346518C>T Copied from the Exome Variant Server APBA2_000030 51/13006 0/8600 51/4406 - - - - - - -
?/? c.432G>A r.(=) p.(=) g.29346519G>A Copied from the Exome Variant Server APBA2_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.435G>A r.(=) p.(=) g.29346522G>A Copied from the Exome Variant Server APBA2_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.441G>A r.(=) p.(=) g.29346528G>A Copied from the Exome Variant Server APBA2_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.448C>G r.(?) p.(His150Asp) g.29346535C>G Copied from the Exome Variant Server APBA2_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.450C>T r.(=) p.(=) g.29346537C>T Copied from the Exome Variant Server APBA2_000035 8/13006 0/8600 8/4406 - - - - - - -
?/? c.456C>T r.(=) p.(=) g.29346543C>T Copied from the Exome Variant Server APBA2_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.463G>A r.(?) p.(Glu155Lys) g.29346550G>A Copied from the Exome Variant Server APBA2_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.483A>G r.(=) p.(=) g.29346570A>G Copied from the Exome Variant Server APBA2_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.486C>T r.(=) p.(=) g.29346573C>T Copied from the Exome Variant Server APBA2_000039 2/13006 0/8600 2/4406 - - - - - - -
?/? c.503C>T r.(?) p.(Pro168Leu) g.29346590C>T Copied from the Exome Variant Server APBA2_000040 5/13006 3/8600 2/4406 - - - - - - -
?/? c.519C>T r.(=) p.(=) g.29346606C>T Copied from the Exome Variant Server APBA2_000041 115/13006 0/8600 115/4406 - - - - - - -
?/? c.591C>T r.(=) p.(=) g.29346678C>T Copied from the Exome Variant Server APBA2_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.593C>T r.(?) p.(Pro198Leu) g.29346680C>T Copied from the Exome Variant Server APBA2_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.595G>A r.(?) p.(Glu199Lys) g.29346682G>A Copied from the Exome Variant Server APBA2_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.618C>T r.(=) p.(=) g.29346705C>T Copied from the Exome Variant Server APBA2_000045 54/13004 0/8600 54/4404 - - - - - - -
?/? c.631C>T r.(?) p.(Arg211Cys) g.29346718C>T Copied from the Exome Variant Server APBA2_000046 1/13002 1/8600 0/4402 - - - - - - -
?/? c.632G>A r.(?) p.(Arg211His) g.29346719G>A Copied from the Exome Variant Server APBA2_000047 2/13002 0/8600 2/4402 - - - - - - -
?/? c.640C>T r.(?) p.(Arg214Cys) g.29346727C>T Copied from the Exome Variant Server APBA2_000048 1/13004 1/8600 0/4404 - - - - - - -
?/? c.641G>A r.(?) p.(Arg214His) g.29346728G>A Copied from the Exome Variant Server APBA2_000049 4/13004 4/8600 0/4404 - - - - - - -
?/? c.687C>T r.(=) p.(=) g.29346774C>T Copied from the Exome Variant Server APBA2_000050 5/13006 3/8600 2/4406 - - - - - - -
?/? c.732C>T r.(=) p.(=) g.29346819C>T Copied from the Exome Variant Server APBA2_000051 5/13006 1/8600 4/4406 - - - - - - -
?/? c.751G>A r.(?) p.(Glu251Lys) g.29346838G>A Copied from the Exome Variant Server APBA2_000052 1/13006 0/8600 1/4406 - - - - - - -
?/? c.770G>C r.(?) p.(Gly257Ala) g.29346857G>C Copied from the Exome Variant Server APBA2_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.816C>T r.(=) p.(=) g.29346903C>T Copied from the Exome Variant Server APBA2_000054 2/13004 1/8598 1/4406 - - - - - - -
?/? c.837G>A r.(=) p.(=) g.29346924G>A Copied from the Exome Variant Server APBA2_000055 2/13004 1/8598 1/4406 - - - - - - -
?/? c.864C>T r.(=) p.(=) g.29346951C>T Copied from the Exome Variant Server APBA2_000056 1/12998 1/8594 0/4404 - - - - - - -
?/? c.880G>A r.(?) p.(Gly294Arg) g.29346967G>A Copied from the Exome Variant Server APBA2_000057 1/12972 1/8572 0/4400 - - - - - - -
?/? c.885C>A r.(?) p.(Asp295Glu) g.29346972C>A Copied from the Exome Variant Server APBA2_000058 3/12976 0/8576 3/4400 - - - - - - -
?/? c.886C>A r.(?) p.(Pro296Thr) g.29346973C>A Copied from the Exome Variant Server APBA2_000059 1/12978 1/8578 0/4400 - - - - - - -
?/? c.932T>C r.(?) p.(Leu311Pro) g.29347019T>C Copied from the Exome Variant Server APBA2_000060 4473/12896 1542/8522 2931/4374 - - - - - - -
?/? c.939G>A r.(?) p.(Trp313*) g.29347026G>A Copied from the Exome Variant Server APBA2_000061 1/12860 1/8496 0/4364 - - - - - - -
?/? c.945C>T r.(=) p.(=) g.29347032C>T Copied from the Exome Variant Server APBA2_000062 2/12818 2/8470 0/4348 - - - - - - -
?/? c.950A>G r.(?) p.(Gln317Arg) g.29347037A>G Copied from the Exome Variant Server APBA2_000063 2/12786 1/8452 1/4334 - - - - - - -
?/? c.952-36A>G r.(=) p.(=) g.29367088A>G Copied from the Exome Variant Server APBA2_000064 1/13006 0/8600 1/4406 - - - - - - -
?/? c.952-27C>A r.(=) p.(=) g.29367097C>A Copied from the Exome Variant Server APBA2_000065 2/13006 0/8600 2/4406 - - - - - - -
?/? c.952-25C>T r.(=) p.(=) g.29367099C>T Copied from the Exome Variant Server APBA2_000066 1/13006 0/8600 1/4406 - - - - - - -
?/? c.952-24G>A r.(=) p.(=) g.29367100G>A Copied from the Exome Variant Server APBA2_000067 2/13006 0/8600 2/4406 - - - - - - -
?/? c.976A>G r.(?) p.(Arg326Gly) g.29367148A>G Copied from the Exome Variant Server APBA2_000068 2/13006 2/8600 0/4406 - - - - - - -
?/? c.988C>T r.(?) p.(Arg330Cys) g.29367160C>T Copied from the Exome Variant Server APBA2_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1009G>A r.(?) p.(Val337Ile) g.29367181G>A Copied from the Exome Variant Server APBA2_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1025T>C r.(?) p.(Ile342Thr) g.29367197T>C Copied from the Exome Variant Server APBA2_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1033-39C>T r.(=) p.(=) g.29368219C>T Copied from the Exome Variant Server APBA2_000072 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1033-37A>G r.(=) p.(=) g.29368221A>G Copied from the Exome Variant Server APBA2_000073 1991/13006 1264/8600 727/4406 - - - - - - -
?/? c.1033-33T>A r.(=) p.(=) g.29368225T>A Copied from the Exome Variant Server APBA2_000074 1680/13006 207/8600 1473/4406 - - - - - - -
?/? c.1044G>A r.(=) p.(=) g.29368269G>A Copied from the Exome Variant Server APBA2_000075 20/13006 18/8600 2/4406 - - - - - - -
?/? c.1062T>A r.(?) p.(Phe354Leu) g.29368287T>A Copied from the Exome Variant Server APBA2_000076 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1069+22T>C r.(=) p.(=) g.29368316T>C Copied from the Exome Variant Server APBA2_000077 1012/13006 76/8600 936/4406 - - - - - - -
?/? c.1070-9C>T r.(=) p.(=) g.29385269C>T Copied from the Exome Variant Server APBA2_000078 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1077G>A r.(=) p.(=) g.29385285G>A Copied from the Exome Variant Server APBA2_000079 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1104C>T r.(=) p.(=) g.29385312C>T Copied from the Exome Variant Server APBA2_000080 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1126T>C r.(?) p.(Tyr376His) g.29385334T>C Copied from the Exome Variant Server APBA2_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1156C>T r.(?) p.(Arg386Trp) g.29385364C>T Copied from the Exome Variant Server APBA2_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1191G>A r.(=) p.(=) g.29385399G>A Copied from the Exome Variant Server APBA2_000083 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1200C>T r.(=) p.(=) g.29385408C>T Copied from the Exome Variant Server APBA2_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1215+4G>C r.spl? p.? g.29385427G>C Copied from the Exome Variant Server APBA2_000085 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1215+13C>T r.(=) p.(=) g.29385436C>T Copied from the Exome Variant Server APBA2_000086 11/13006 0/8600 11/4406 - - - - - - -
?/? c.1215+26C>T r.(=) p.(=) g.29385449C>T Copied from the Exome Variant Server APBA2_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1215+47G>A r.(=) p.(=) g.29385470G>A Copied from the Exome Variant Server APBA2_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1216-56C>T r.(=) p.(=) g.29386425C>T Copied from the Exome Variant Server APBA2_000089 3/4566 0/3182 3/1384 - - - - - - -
?/? c.1216-55G>A r.(=) p.(=) g.29386426G>A Copied from the Exome Variant Server APBA2_000090 5/4566 0/3182 5/1384 - - - - - - -
?/? c.1216-9T>C r.(=) p.(=) g.29386472T>C Copied from the Exome Variant Server APBA2_000091 279/13006 66/8600 213/4406 - - - - - - -
?/? c.1224A>G r.(=) p.(=) g.29386489A>G Copied from the Exome Variant Server APBA2_000092 14/13006 0/8600 14/4406 - - - - - - -
?/? c.1239C>G r.(?) p.(Ile413Met) g.29386504C>G Copied from the Exome Variant Server APBA2_000093 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1251+50G>A r.(=) p.(=) g.29386566G>A Copied from the Exome Variant Server APBA2_000094 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1251+68_1251+69insG r.(=) p.(=) g.29386584_29386585insG Copied from the Exome Variant Server APBA2_000095 74/12518 60/8254 14/4264 - - - - - - -
?/? c.1251+75_1251+76insG r.(=) p.(=) g.29386591_29386592insG Copied from the Exome Variant Server APBA2_000096 401/12518 1/8254 400/4264 - - - - - - -
?/? c.1251+77G>A r.(=) p.(=) g.29386593G>A Copied from the Exome Variant Server APBA2_000097 3827/4566 3131/3182 696/1384 - - - - - - -
?/? c.1251+83_1251+84insC r.(=) p.(=) g.29386599_29386600insC Copied from the Exome Variant Server APBA2_000098 288/12518 0/8254 288/4264 - - - - - - -
?/? c.1252-43G>A r.(=) p.(=) g.29390650G>A Copied from the Exome Variant Server APBA2_000099 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1252-41G>A r.(=) p.(=) g.29390652G>A Copied from the Exome Variant Server APBA2_000100 2/13006 2/8600 0/4406 - - - - - - -
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