Full data view for gene ADAM23

Information The variants shown are described using the NM_003812.2 transcript reference sequence.

189 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.77del r.(?) p.(Gln26Hisfs*143) g.207308667del Copied from the Exome Variant Server ADAM23_000001 14/1548 8/1114 6/434 - - - - - - -
?/? c.215-44G>T r.(=) p.(=) g.207309987G>T Copied from the Exome Variant Server ADAM23_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? c.215-34A>G r.(=) p.(=) g.207309997A>G Copied from the Exome Variant Server ADAM23_000003 1/13006 0/8600 1/4406 - - - - - - -
?/? c.215-14C>G r.(=) p.(=) g.207310017C>G Copied from the Exome Variant Server ADAM23_000004 4/13006 4/8600 0/4406 - - - - - - -
?/? c.215-9C>G r.(=) p.(=) g.207310022C>G Copied from the Exome Variant Server ADAM23_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.217C>T r.(?) p.(Pro73Ser) g.207310033C>T Copied from the Exome Variant Server ADAM23_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.247T>A r.(?) p.(Leu83Met) g.207310063T>A Copied from the Exome Variant Server ADAM23_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? c.312C>T r.(=) p.(=) g.207310128C>T Copied from the Exome Variant Server ADAM23_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.319A>G r.(?) p.(Met107Val) g.207310135A>G Copied from the Exome Variant Server ADAM23_000009 15/13006 13/8600 2/4406 - - - - - - -
?/? c.323A>G r.(?) p.(Gln108Arg) g.207310139A>G Copied from the Exome Variant Server ADAM23_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.354A>G r.(?) p.(Ile118Met) g.207310170A>G Copied from the Exome Variant Server ADAM23_000011 33/13006 30/8600 3/4406 - - - - - - -
?/? c.361A>C r.(?) p.(Ile121Leu) g.207310177A>C Copied from the Exome Variant Server ADAM23_000012 9/13006 7/8600 2/4406 - - - - - - -
?/? c.373T>G r.(?) p.(Ser125Ala) g.207310189T>G Copied from the Exome Variant Server ADAM23_000013 107/13006 77/8600 30/4406 - - - - - - -
?/? c.432+16G>T r.(=) p.(=) g.207310264G>T Copied from the Exome Variant Server ADAM23_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.434C>G r.(?) p.(Ala145Gly) g.207345957C>G Copied from the Exome Variant Server ADAM23_000015 11/13006 0/8600 11/4406 - - - - - - -
?/? c.439C>T r.(?) p.(His147Tyr) g.207345962C>T Copied from the Exome Variant Server ADAM23_000016 10/13006 1/8600 9/4406 - - - - - - -
?/? c.471C>T r.(=) p.(=) g.207345994C>T Copied from the Exome Variant Server ADAM23_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.474C>T r.(=) p.(=) g.207345997C>T Copied from the Exome Variant Server ADAM23_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.475G>A r.(?) p.(Gly159Ser) g.207345998G>A Copied from the Exome Variant Server ADAM23_000019 17/13006 0/8600 17/4406 - - - - - - -
?/? c.495C>T r.(=) p.(=) g.207346018C>T Copied from the Exome Variant Server ADAM23_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.500T>C r.(?) p.(Ile167Thr) g.207346023T>C Copied from the Exome Variant Server ADAM23_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.509+19_509+21del r.(=) p.(=) g.207346051_207346053del Copied from the Exome Variant Server ADAM23_000022 1/12512 0/8248 1/4264 - - - - - - -
?/? c.510-64C>T r.(=) p.(=) g.207395545C>T Copied from the Exome Variant Server ADAM23_000023 3/4566 2/3182 1/1384 - - - - - - -
?/? c.510-42T>C r.(=) p.(=) g.207395567T>C Copied from the Exome Variant Server ADAM23_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.510-39C>G r.(=) p.(=) g.207395570C>G Copied from the Exome Variant Server ADAM23_000025 10/13006 0/8600 10/4406 - - - - - - -
?/? c.547G>A r.(?) p.(Glu183Lys) g.207395646G>A Copied from the Exome Variant Server ADAM23_000026 1/13006 0/8600 1/4406 - - - - - - -
?/? c.573+5G>A r.spl? p.? g.207395677G>A Copied from the Exome Variant Server ADAM23_000027 5/13006 0/8600 5/4406 - - - - - - -
?/? c.573+11C>T r.(=) p.(=) g.207395683C>T Copied from the Exome Variant Server ADAM23_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.573+18G>T r.(=) p.(=) g.207395690G>T Copied from the Exome Variant Server ADAM23_000029 2/13006 0/8600 2/4406 - - - - - - -
?/? c.573+30A>G r.(=) p.(=) g.207395702A>G Copied from the Exome Variant Server ADAM23_000030 107/13006 95/8600 12/4406 - - - - - - -
?/? c.573+37G>T r.(=) p.(=) g.207395709G>T Copied from the Exome Variant Server ADAM23_000031 17/13006 0/8600 17/4406 - - - - - - -
?/? c.573+45A>G r.(=) p.(=) g.207395717A>G Copied from the Exome Variant Server ADAM23_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.574-50A>G r.(=) p.(=) g.207406726A>G Copied from the Exome Variant Server ADAM23_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.613G>A r.(?) p.(Val205Ile) g.207406815G>A Copied from the Exome Variant Server ADAM23_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.626A>G r.(?) p.(Lys209Arg) g.207406828A>G Copied from the Exome Variant Server ADAM23_000035 9/13006 8/8600 1/4406 - - - - - - -
?/? c.647A>G r.(?) p.(Asn216Ser) g.207406849A>G Copied from the Exome Variant Server ADAM23_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.656+20G>A r.(=) p.(=) g.207406878G>A Copied from the Exome Variant Server ADAM23_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.656+36C>A r.(=) p.(=) g.207406894C>A Copied from the Exome Variant Server ADAM23_000038 2/13006 2/8600 0/4406 - - - - - - -
?/? c.657-32T>C r.(=) p.(=) g.207407945T>C Copied from the Exome Variant Server ADAM23_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.686A>G r.(?) p.(Tyr229Cys) g.207408006A>G Copied from the Exome Variant Server ADAM23_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.704A>C r.(?) p.(Glu235Ala) g.207408024A>C Copied from the Exome Variant Server ADAM23_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.720+9A>C r.(=) p.(=) g.207408049A>C Copied from the Exome Variant Server ADAM23_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.720+13C>T r.(=) p.(=) g.207408053C>T Copied from the Exome Variant Server ADAM23_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.721-61_721-60del r.(=) p.(=) g.207412092_207412093del Copied from the Exome Variant Server ADAM23_000044 1/12514 1/8250 0/4264 - - - - - - -
?/? c.721-35T>C r.(=) p.(=) g.207412118T>C Copied from the Exome Variant Server ADAM23_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.721-8T>C r.(=) p.(=) g.207412145T>C Copied from the Exome Variant Server ADAM23_000046 2/13006 0/8600 2/4406 - - - - - - -
?/? c.757T>C r.(=) p.(=) g.207412189T>C Copied from the Exome Variant Server ADAM23_000047 1/13006 0/8600 1/4406 - - - - - - -
?/? c.793+22C>T r.(=) p.(=) g.207412247C>T Copied from the Exome Variant Server ADAM23_000048 1/13004 1/8600 0/4404 - - - - - - -
?/? c.794-48C>G r.(=) p.(=) g.207412957C>G Copied from the Exome Variant Server ADAM23_000049 46/13006 43/8600 3/4406 - - - - - - -
?/? c.794-34A>G r.(=) p.(=) g.207412971A>G Copied from the Exome Variant Server ADAM23_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.840G>A r.(?) p.(Trp280*) g.207413051G>A Copied from the Exome Variant Server ADAM23_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.856A>C r.(=) p.(=) g.207413067A>C Copied from the Exome Variant Server ADAM23_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.867+18C>T r.(=) p.(=) g.207413096C>T Copied from the Exome Variant Server ADAM23_000053 49/13006 0/8600 49/4406 - - - - - - -
?/? c.867+24G>A r.(=) p.(=) g.207413102G>A Copied from the Exome Variant Server ADAM23_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.867+32A>G r.(=) p.(=) g.207413110A>G Copied from the Exome Variant Server ADAM23_000055 4/13006 4/8600 0/4406 - - - - - - -
?/? c.867+39T>C r.(=) p.(=) g.207413117T>C Copied from the Exome Variant Server ADAM23_000056 1/13006 0/8600 1/4406 - - - - - - -
?/? c.868-5C>T r.spl? p.? g.207414814C>T Copied from the Exome Variant Server ADAM23_000057 3/12994 3/8590 0/4404 - - - - - - -
?/? c.868-4G>A r.spl? p.? g.207414815G>A Copied from the Exome Variant Server ADAM23_000058 2/12994 2/8590 0/4404 - - - - - - -
?/? c.932C>T r.(?) p.(Thr311Met) g.207414883C>T Copied from the Exome Variant Server ADAM23_000059 1/13000 1/8594 0/4406 - - - - - - -
?/? c.933+31C>T r.(=) p.(=) g.207414915C>T Copied from the Exome Variant Server ADAM23_000060 2/13000 1/8594 1/4406 - - - - - - -
?/? c.934-13A>G r.(=) p.(=) g.207422138A>G Copied from the Exome Variant Server ADAM23_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.934-11T>C r.(=) p.(=) g.207422140T>C Copied from the Exome Variant Server ADAM23_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.954T>A r.(=) p.(=) g.207422171T>A Copied from the Exome Variant Server ADAM23_000063 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1005+59G>T r.(=) p.(=) g.207422281G>T Copied from the Exome Variant Server ADAM23_000064 8/4566 0/3182 8/1384 - - - - - - -
?/? c.1006-24A>G r.(=) p.(=) g.207424655A>G Copied from the Exome Variant Server ADAM23_000065 6/13006 0/8600 6/4406 - - - - - - -
?/? c.1006-20G>T r.(=) p.(=) g.207424659G>T Copied from the Exome Variant Server ADAM23_000066 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1006-5C>T r.spl? p.? g.207424674C>T Copied from the Exome Variant Server ADAM23_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1017G>T r.(?) p.(Glu339Asp) g.207424690G>T Copied from the Exome Variant Server ADAM23_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1033G>A r.(?) p.(Val345Ile) g.207424706G>A Copied from the Exome Variant Server ADAM23_000070 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1081A>G r.(?) p.(Ile361Val) g.207424754A>G Copied from the Exome Variant Server ADAM23_000072 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1118C>T r.(?) p.(Ser373Leu) g.207424791C>T Copied from the Exome Variant Server ADAM23_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1127G>A r.(?) p.(Arg376Gln) g.207424800G>A Copied from the Exome Variant Server ADAM23_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1162C>T r.(?) p.(Leu388Phe) g.207424835C>T Copied from the Exome Variant Server ADAM23_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1169+4C>T r.spl? p.? g.207424846C>T Copied from the Exome Variant Server ADAM23_000080 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1169+22T>C r.(=) p.(=) g.207424864T>C Copied from the Exome Variant Server ADAM23_000082 176/13006 0/8600 176/4406 - - - - - - -
?/? c.1169+34T>C r.(=) p.(=) g.207424876T>C Copied from the Exome Variant Server ADAM23_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1170-38A>T r.(=) p.(=) g.207425814A>T Copied from the Exome Variant Server ADAM23_000071 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1170-34C>T r.(=) p.(=) g.207425818C>T Copied from the Exome Variant Server ADAM23_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1172G>A r.(?) p.(Arg391Gln) g.207425854G>A Copied from the Exome Variant Server ADAM23_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1232C>T r.(?) p.(Thr411Ile) g.207425914C>T Copied from the Exome Variant Server ADAM23_000077 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1254+14A>G r.(=) p.(=) g.207425950A>G Copied from the Exome Variant Server ADAM23_000079 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1254+16_1254+17insA r.(=) p.(=) g.207425952_207425953insA Copied from the Exome Variant Server ADAM23_000081 1/12520 0/8254 1/4266 - - - - - - -
?/? c.1254+55G>A r.(=) p.(=) g.207425991G>A Copied from the Exome Variant Server ADAM23_000083 1/4566 0/3182 1/1384 - - - - - - -
?/? c.1255-44A>C r.(=) p.(=) g.207426883A>C Copied from the Exome Variant Server ADAM23_000084 31/13006 0/8600 31/4406 - - - - - - -
?/? c.1255-41C>T r.(=) p.(=) g.207426886C>T Copied from the Exome Variant Server ADAM23_000085 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1346-58del r.(=) p.(=) g.207429686del Copied from the Exome Variant Server ADAM23_000086 3/12520 1/8254 2/4266 - - - - - - -
?/? c.1346-40T>G r.(=) p.(=) g.207429704T>G Copied from the Exome Variant Server ADAM23_000087 17/13006 0/8600 17/4406 - - - - - - -
?/? c.1346-35T>C r.(=) p.(=) g.207429709T>C Copied from the Exome Variant Server ADAM23_000088 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1394+9T>A r.(=) p.(=) g.207429801T>A Copied from the Exome Variant Server ADAM23_000089 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1394+29A>T r.(=) p.(=) g.207429821A>T Copied from the Exome Variant Server ADAM23_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1395-472G>C r.(=) p.(=) g.207431475G>C Copied from the Exome Variant Server ADAM23_000091 256/4566 236/3182 20/1384 - - - - - - -
?/? c.1395-321_1395-320insA r.(=) p.(=) g.207431626_207431627insA Copied from the Exome Variant Server ADAM23_000092 1/6312 1/4316 0/1996 - - - - - - -
?/? c.1423T>G r.(?) p.(Cys475Gly) g.207431975T>G Copied from the Exome Variant Server ADAM23_000093 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1489A>G r.(?) p.(Thr497Ala) g.207432041A>G Copied from the Exome Variant Server ADAM23_000094 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1494+41C>G r.(=) p.(=) g.207432087C>G Copied from the Exome Variant Server ADAM23_000095 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1495-59del r.(=) p.(=) g.207435405del Copied from the Exome Variant Server ADAM23_000096 788/12520 7/8254 781/4266 - - - - - - -
?/? c.1495-30A>G r.(=) p.(=) g.207435434A>G Copied from the Exome Variant Server ADAM23_000097 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1495-22C>T r.(=) p.(=) g.207435442C>T Copied from the Exome Variant Server ADAM23_000098 52/13006 0/8600 52/4406 - - - - - - -
?/? c.1505C>T r.(?) p.(Pro502Leu) g.207435474C>T Copied from the Exome Variant Server ADAM23_000099 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1566+297A>G r.(=) p.(=) g.207435832A>G Copied from the Exome Variant Server ADAM23_000100 39/4566 35/3182 4/1384 - - - - - - -
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