Full data view for gene KIF4A

Information The variants shown are described using the NM_012310.4 transcript reference sequence.

115 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.-7T>C r.(=) p.(=) g.69510302T>C Copied from the Exome Variant Server KIF4A_000001 1/10563 1/6728 0/3835 - - - - - - -
?/? c.27C>T N/A N/A g.69510335C>T Copied from the Exome Variant Server KIF4A_000002 10486/10558 6659/6723 3827/3835 - - - - - - -
?/? c.62C>A r.(?) p.(Pro21His) g.69510370C>A Copied from the Exome Variant Server KIF4A_000003 1/10563 0/6728 1/3835 - - - - - - -
?/? c.121-22C>G r.(=) p.(=) g.69510519C>G Copied from the Exome Variant Server KIF4A_000004 15/10563 14/6728 1/3835 - - - - - - -
?/? c.235+41T>G r.(=) p.(=) g.69510696T>G Copied from the Exome Variant Server KIF4A_000005 1/10562 0/6727 1/3835 - - - - - - -
?/? c.235+49A>G r.(=) p.(=) g.69510704A>G Copied from the Exome Variant Server KIF4A_000006 4/10562 0/6727 4/3835 - - - - - - -
?/? c.249G>A r.(=) p.(=) g.69516861G>A Copied from the Exome Variant Server KIF4A_000007 3/10563 0/6728 3/3835 - - - - - - -
?/? c.273C>T r.(=) p.(=) g.69516885C>T Copied from the Exome Variant Server KIF4A_000008 2/10563 1/6728 1/3835 - - - - - - -
?/? c.315G>A r.(=) p.(=) g.69516927G>A Copied from the Exome Variant Server KIF4A_000009 1/10563 0/6728 1/3835 - - - - - - -
?/? c.427-51A>T r.(=) p.(=) g.69518912A>T Copied from the Exome Variant Server KIF4A_000010 1/10562 1/6728 0/3834 - - - - - - -
?/? c.462A>G r.(=) p.(=) g.69518998A>G Copied from the Exome Variant Server KIF4A_000011 8/10563 8/6728 0/3835 - - - - - - -
?/? c.516+35_516+36insT r.(=) p.(=) g.69519087_69519088insT Copied from the Exome Variant Server KIF4A_000012 28/10203 0/6482 28/3721 - - - - - - -
?/? c.660A>G r.(=) p.(=) g.69521893A>G Copied from the Exome Variant Server KIF4A_000013 1/10560 1/6725 0/3835 - - - - - - -
?/? c.684-27C>T r.(=) p.(=) g.69522127C>T Copied from the Exome Variant Server KIF4A_000014 52/10563 0/6728 52/3835 - - - - - - -
?/? c.684-24T>C r.(=) p.(=) g.69522130T>C Copied from the Exome Variant Server KIF4A_000015 3/10563 0/6728 3/3835 - - - - - - -
?/? c.684-15C>T r.(=) p.(=) g.69522139C>T Copied from the Exome Variant Server KIF4A_000016 1/10563 0/6728 1/3835 - - - - - - -
?/? c.692G>A r.(?) p.(Ser231Asn) g.69522162G>A Copied from the Exome Variant Server KIF4A_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.778+5G>A r.spl? p.? g.69522253G>A Copied from the Exome Variant Server KIF4A_000018 1/10563 0/6728 1/3835 - - - - - - -
?/? c.831T>G r.(=) p.(=) g.69549307T>G Copied from the Exome Variant Server KIF4A_000019 2/10563 0/6728 2/3835 - - - - - - -
?/? c.896-26C>T r.(=) p.(=) g.69549981C>T Copied from the Exome Variant Server KIF4A_000020 1/10561 1/6727 0/3834 - - - - - - -
?/? c.896-25G>A r.(=) p.(=) g.69549982G>A Copied from the Exome Variant Server KIF4A_000021 1/10561 0/6727 1/3834 - - - - - - -
?/? c.969A>G r.(=) p.(=) g.69550080A>G Copied from the Exome Variant Server KIF4A_000022 263/10563 78/6728 185/3835 - - - - - - -
?/? c.984C>T r.(=) p.(=) g.69550095C>T Copied from the Exome Variant Server KIF4A_000023 1/10563 1/6728 0/3835 - - - - - - -
?/? c.987T>C r.(=) p.(=) g.69550098T>C Copied from the Exome Variant Server KIF4A_000024 512/10563 316/6728 196/3835 - - - - - - -
?/? c.1021A>G r.(?) p.(Ile341Val) g.69550132A>G Copied from the Exome Variant Server KIF4A_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1071+4T>A r.spl? p.? g.69550186T>A Copied from the Exome Variant Server KIF4A_000026 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1071+34A>G r.(=) p.(=) g.69550216A>G Copied from the Exome Variant Server KIF4A_000027 2/10559 0/6724 2/3835 - - - - - - -
?/? c.1071+48G>T r.(=) p.(=) g.69550230G>T Copied from the Exome Variant Server KIF4A_000028 2/10540 0/6713 2/3827 - - - - - - -
?/? c.1072-35G>A r.(=) p.(=) g.69553443G>A Copied from the Exome Variant Server KIF4A_000029 241/10563 231/6728 10/3835 - - - - - - -
?/? c.1116C>A r.(=) p.(=) g.69553522C>A Copied from the Exome Variant Server KIF4A_000030 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1265T>G r.(?) p.(Leu422Trp) g.69561780T>G Copied from the Exome Variant Server KIF4A_000031 1656/10563 323/6728 1333/3835 - - - - - - -
?/? c.1267-33C>G r.(=) p.(=) g.69563520C>G Copied from the Exome Variant Server KIF4A_000032 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1267-32G>A r.(=) p.(=) g.69563521G>A Copied from the Exome Variant Server KIF4A_000033 4/10563 0/6728 4/3835 - - - - - - -
?/? c.1276G>T r.(?) p.(Ala426Ser) g.69563562G>T Copied from the Exome Variant Server KIF4A_000034 91/10563 1/6728 90/3835 - - - - - - -
?/? c.1293C>T r.(=) p.(=) g.69563579C>T Copied from the Exome Variant Server KIF4A_000035 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1294G>A r.(?) p.(Ala432Thr) g.69563580G>A Copied from the Exome Variant Server KIF4A_000036 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1326-25del r.(=) p.(=) g.69563702del Copied from the Exome Variant Server KIF4A_000037 23/10204 15/6483 8/3721 - - - - - - -
?/? c.1326-14G>C r.(=) p.(=) g.69563713G>C Copied from the Exome Variant Server KIF4A_000038 6/10563 0/6728 6/3835 - - - - - - -
?/? c.1462A>G r.(?) p.(Ile488Val) g.69572480A>G Copied from the Exome Variant Server KIF4A_000039 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1472C>T r.(?) p.(Ala491Val) g.69572490C>T Copied from the Exome Variant Server KIF4A_000040 8/10563 8/6728 0/3835 - - - - - - -
?/? c.1486G>A r.(?) p.(Ala496Thr) g.69572504G>A Copied from the Exome Variant Server KIF4A_000041 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1488C>T r.(=) p.(=) g.69572506C>T Copied from the Exome Variant Server KIF4A_000042 2/10563 1/6728 1/3835 - - - - - - -
?/? c.1488+37C>G r.(=) p.(=) g.69572543C>G Copied from the Exome Variant Server KIF4A_000043 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1489-49C>T r.(=) p.(=) g.69573423C>T Copied from the Exome Variant Server KIF4A_000044 1/10557 1/6724 0/3833 - - - - - - -
?/? c.1491A>G r.(=) p.(=) g.69573474A>G Copied from the Exome Variant Server KIF4A_000045 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1526A>T r.(?) p.(Asp509Val) g.69573509A>T Copied from the Exome Variant Server KIF4A_000046 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1529C>G r.(?) p.(Ala510Gly) g.69573512C>G Copied from the Exome Variant Server KIF4A_000047 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1596G>A r.(=) p.(=) g.69573579G>A Copied from the Exome Variant Server KIF4A_000048 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1639G>A r.(?) p.(Asp547Asn) g.69573622G>A Copied from the Exome Variant Server KIF4A_000049 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1656C>T r.(=) p.(=) g.69573639C>T Copied from the Exome Variant Server KIF4A_000050 1660/10556 323/6723 1337/3833 - - - - - - -
?/? c.1674+7_1674+8del r.(=) p.(=) g.69573664_69573665del Copied from the Exome Variant Server KIF4A_000051 2/10157 1/6451 1/3706 - - - - - - -
?/? c.1681A>G r.(?) p.(Ile561Val) g.69594007A>G Copied from the Exome Variant Server KIF4A_000052 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1732T>C r.(=) p.(=) g.69594058T>C Copied from the Exome Variant Server KIF4A_000053 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1750A>G r.(?) p.(Thr584Ala) g.69594076A>G Copied from the Exome Variant Server KIF4A_000054 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1778+32G>A r.(=) p.(=) g.69594136G>A Copied from the Exome Variant Server KIF4A_000055 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1778+38A>G r.(=) p.(=) g.69594142A>G Copied from the Exome Variant Server KIF4A_000056 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1778+45G>A r.(=) p.(=) g.69594149G>A Copied from the Exome Variant Server KIF4A_000057 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1779-52G>C r.(=) p.(=) g.69595002G>C Copied from the Exome Variant Server KIF4A_000058 3/4525 3/3107 0/1418 - - - - - - -
?/? c.1801C>T r.(?) p.(Arg601Cys) g.69595076C>T Copied from the Exome Variant Server KIF4A_000059 2/10563 1/6728 1/3835 - - - - - - -
?/? c.1921C>T r.(?) p.(Arg641Trp) g.69595196C>T Copied from the Exome Variant Server KIF4A_000060 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1924-41C>G r.(=) p.(=) g.69595909C>G Copied from the Exome Variant Server KIF4A_000061 9865/10559 6154/6728 3711/3831 - - - - - - -
?/? c.1955G>A r.(?) p.(Arg652His) g.69595981G>A Copied from the Exome Variant Server KIF4A_000062 2/10563 0/6728 2/3835 - - - - - - -
?/? c.2022G>A r.(=) p.(=) g.69596048G>A Copied from the Exome Variant Server KIF4A_000063 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2033G>A r.(?) p.(Arg678Gln) g.69596059G>A Copied from the Exome Variant Server KIF4A_000064 1/10560 0/6727 1/3833 - - - - - - -
?/? c.2034+51_2034+54del r.(=) p.(=) g.69596111_69596114del Copied from the Exome Variant Server KIF4A_000065 2/10074 1/6421 1/3653 - - - - - - -
?/? c.2059C>T r.(=) p.(=) g.69606492C>T Copied from the Exome Variant Server KIF4A_000066 182/10563 1/6728 181/3835 - - - - - - -
?/? c.2118+7A>G r.(=) p.(=) g.69606558A>G Copied from the Exome Variant Server KIF4A_000067 26/10563 23/6728 3/3835 - - - - - - -
?/? c.2119-51del r.(=) p.(=) g.69606983del Copied from the Exome Variant Server KIF4A_000069 1052/9615 708/6073 344/3542 - - - - - - -
?/? c.2119-51dup r.(=) p.(=) g.69606983dup Copied from the Exome Variant Server KIF4A_000068 473/9615 300/6073 173/3542 - - - - - - -
?/? c.2137C>T r.(?) p.(Arg713Cys) g.69607052C>T Copied from the Exome Variant Server KIF4A_000070 1/10540 0/6709 1/3831 - - - - - - -
?/? c.2170G>T r.(?) p.(Val724Phe) g.69607085G>T Copied from the Exome Variant Server KIF4A_000071 1/10551 1/6721 0/3830 - - - - - - -
?/? c.2233-50A>G r.(=) p.(=) g.69615471A>G Copied from the Exome Variant Server KIF4A_000072 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2273A>G r.(?) p.(Glu758Gly) g.69615561A>G Copied from the Exome Variant Server KIF4A_000073 2/10563 0/6728 2/3835 - - - - - - -
?/? c.2284C>T r.(?) p.(Arg762Cys) g.69615572C>T Copied from the Exome Variant Server KIF4A_000074 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2312G>A r.(?) p.(Arg771Lys) g.69615600G>A Copied from the Exome Variant Server KIF4A_000075 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2349A>C r.(?) p.(Glu783Asp) g.69615637A>C Copied from the Exome Variant Server KIF4A_000076 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2354A>G r.(?) p.(Lys785Arg) g.69615642A>G Copied from the Exome Variant Server KIF4A_000077 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2388+9G>A r.(=) p.(=) g.69615685G>A Copied from the Exome Variant Server KIF4A_000078 8/10559 0/6726 8/3833 - - - - - - -
?/? c.2388+17A>G r.(=) p.(=) g.69615693A>G Copied from the Exome Variant Server KIF4A_000079 1/10559 1/6726 0/3833 - - - - - - -
?/? c.2388+39C>T r.(=) p.(=) g.69615715C>T Copied from the Exome Variant Server KIF4A_000080 49/10561 0/6728 49/3833 - - - - - - -
?/? c.2392C>T r.(?) p.(Arg798Cys) g.69615802C>T Copied from the Exome Variant Server KIF4A_000081 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2415G>A r.(=) p.(=) g.69615825G>A Copied from the Exome Variant Server KIF4A_000082 17/10563 0/6728 17/3835 - - - - - - -
?/? c.2424A>G r.(=) p.(=) g.69615834A>G Copied from the Exome Variant Server KIF4A_000083 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2427_2429del r.(?) p.(Ser810del) g.69615837_69615839del Copied from the Exome Variant Server KIF4A_000084 1/10205 1/6484 0/3721 - - - - - - -
?/? c.2430G>A r.(=) p.(=) g.69615840G>A Copied from the Exome Variant Server KIF4A_000085 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2490-47G>C r.(=) p.(=) g.69622369G>C Copied from the Exome Variant Server KIF4A_000086 28/10563 0/6728 28/3835 - - - - - - -
?/? c.2490-39G>A r.(=) p.(=) g.69622377G>A Copied from the Exome Variant Server KIF4A_000087 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2555A>T r.(?) p.(Gln852Leu) g.69622481A>T Copied from the Exome Variant Server KIF4A_000088 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2619+6_2619+7insA r.(=) p.(=) g.69622551_69622552insA Copied from the Exome Variant Server KIF4A_000089 2/10205 2/6484 0/3721 - - - - - - -
?/? c.2620C>A r.(?) p.(Leu874Met) g.69623714C>A Copied from the Exome Variant Server KIF4A_000090 2/10561 0/6727 2/3834 - - - - - - -
?/? c.2791-20T>C r.(=) p.(=) g.69624545T>C Copied from the Exome Variant Server KIF4A_000091 4/10561 0/6727 4/3834 - - - - - - -
?/? c.2793G>A r.(=) p.(=) g.69624567G>A Copied from the Exome Variant Server KIF4A_000092 1/10562 1/6727 0/3835 - - - - - - -
?/? c.2845G>A r.(?) p.(Glu949Lys) g.69624619G>A Copied from the Exome Variant Server KIF4A_000093 1/10562 1/6727 0/3835 - - - - - - -
?/? c.2977-48C>T r.(=) p.(=) g.69626061C>T Copied from the Exome Variant Server KIF4A_000094 2/10563 2/6728 0/3835 - - - - - - -
?/? c.3072+50G>C r.(=) p.(=) g.69626254G>C Copied from the Exome Variant Server KIF4A_000095 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3073-35T>C r.(=) p.(=) g.69626708T>C Copied from the Exome Variant Server KIF4A_000096 1/10556 1/6725 0/3831 - - - - - - -
?/? c.3073-7T>C r.(=) p.(=) g.69626736T>C Copied from the Exome Variant Server KIF4A_000097 3/10563 0/6728 3/3835 - - - - - - -
?/? c.3073-4C>T r.spl? p.? g.69626739C>T Copied from the Exome Variant Server KIF4A_000098 1020/10563 573/6728 447/3835 - - - - - - -
?/? c.3082T>C r.(?) p.(Ser1028Pro) g.69626752T>C Copied from the Exome Variant Server KIF4A_000099 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3127G>A r.(?) p.(Asp1043Asn) g.69626797G>A Copied from the Exome Variant Server KIF4A_000100 1/10563 0/6728 1/3835 - - - - - - -
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