Full data view for gene KLHL34

Information The variants shown are described using the NM_153270.1 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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.-37_-36insC r.(=) p.(=) g.21675942_21675943insG Copied from the Exome Variant Server KLHL34_000037 7/8526 0/5368 7/3158 - - - - - - -
?/? c.197G>A r.(?) p.(Arg66Gln) g.21675710C>T Copied from the Exome Variant Server KLHL34_000036 1/10559 1/6725 0/3834 - - - - - - -
?/? c.214del r.(?) p.(Leu72Cysfs*28) g.21675693del Copied from the Exome Variant Server KLHL34_000035 13/10190 6/6474 7/3716 - - - - - - -
?/? c.263A>T r.(?) p.(Tyr88Phe) g.21675644T>A Copied from the Exome Variant Server KLHL34_000034 1/10563 0/6728 1/3835 - - - - - - -
?/? c.270C>G r.(=) p.(=) g.21675637G>C Copied from the Exome Variant Server KLHL34_000033 2/10563 0/6728 2/3835 - - - - - - -
?/? c.419G>A r.(?) p.(Arg140His) g.21675488C>T Copied from the Exome Variant Server KLHL34_000032 1/10257 0/6519 1/3738 - - - - - - -
?/? c.473T>C r.(?) p.(Leu158Ser) g.21675434A>G Copied from the Exome Variant Server KLHL34_000031 44/9072 41/5776 3/3296 - - - - - - -
?/? c.488_490del r.(?) p.(Ala163_Arg164delinsGly) g.21675417_21675419del Copied from the Exome Variant Server KLHL34_000030 123/7186 78/4683 45/2503 - - - - - - -
?/? c.498_499insA r.(?) p.(Gly167Argfs*45) g.21675408_21675409insT Copied from the Exome Variant Server KLHL34_000029 17/8070 5/5157 12/2913 - - - - - - -
?/? c.642A>G r.(=) p.(=) g.21675265T>C Copied from the Exome Variant Server KLHL34_000028 1/10440 1/6663 0/3777 - - - - - - -
?/? c.791G>A r.(?) p.(Arg264His) g.21675116C>T Copied from the Exome Variant Server KLHL34_000027 1/10483 1/6675 0/3808 - - - - - - -
?/? c.805C>T r.(?) p.(Gln269*) g.21675102G>A Copied from the Exome Variant Server KLHL34_000026 1/10501 0/6681 1/3820 - - - - - - -
?/? c.861G>A r.(=) p.(=) g.21675046C>T Copied from the Exome Variant Server KLHL34_000025 1/10507 1/6690 0/3817 - - - - - - -
?/? c.892G>A r.(?) p.(Val298Ile) g.21675015C>T Copied from the Exome Variant Server KLHL34_000024 1/10466 0/6667 1/3799 - - - - - - -
?/? c.953A>C r.(?) p.(Glu318Ala) g.21674954T>G Copied from the Exome Variant Server KLHL34_000023 28/10387 27/6616 1/3771 - - - - - - -
?/? c.985_987del r.(?) p.(Glu329del) g.21674920_21674922del Copied from the Exome Variant Server KLHL34_000022 222/10057 150/6387 72/3670 - - - - - - -
?/? c.985_987dup r.(?) p.(Glu329dup) g.21674920_21674922dup Copied from the Exome Variant Server KLHL34_000021 9/10057 6/6387 3/3670 - - - - - - -
?/? c.993G>A r.(=) p.(=) g.21674914C>T Copied from the Exome Variant Server KLHL34_000020 13/10534 12/6714 1/3820 - - - - - - -
?/? c.1081G>T r.(?) p.(Val361Leu) g.21674826C>A Copied from the Exome Variant Server KLHL34_000019 1/10550 0/6720 1/3830 - - - - - - -
?/? c.1082T>C r.(?) p.(Val361Ala) g.21674825A>G Copied from the Exome Variant Server KLHL34_000018 2/10552 1/6722 1/3830 - - - - - - -
?/? c.1156G>A r.(?) p.(Asp386Asn) g.21674751C>T Copied from the Exome Variant Server KLHL34_000017 1/10535 0/6710 1/3825 - - - - - - -
?/? c.1286C>T r.(?) p.(Ala429Val) g.21674621G>A Copied from the Exome Variant Server KLHL34_000016 1/9317 1/5933 0/3384 - - - - - - -
?/? c.1304C>T r.(?) p.(Ala435Val) g.21674603G>A Copied from the Exome Variant Server KLHL34_000015 14/9757 0/6209 14/3548 - - - - - - -
?/? c.1332G>C r.(?) p.(Glu444Asp) g.21674575C>G Copied from the Exome Variant Server KLHL34_000014 1/10170 1/6453 0/3717 - - - - - - -
?/? c.1410C>A r.(=) p.(=) g.21674497G>T Copied from the Exome Variant Server KLHL34_000013 1/10433 1/6632 0/3801 - - - - - - -
?/? c.1442G>A r.(?) p.(Gly481Asp) g.21674465C>T Copied from the Exome Variant Server KLHL34_000012 1/10533 1/6711 0/3822 - - - - - - -
?/? c.1551C>T r.(=) p.(=) g.21674356G>A Copied from the Exome Variant Server KLHL34_000011 7/10558 0/6724 7/3834 - - - - - - -
?/? c.1613_1615del r.(?) p.(Phe538del) g.21674292_21674294del Copied from the Exome Variant Server KLHL34_000010 55/10150 33/6452 22/3698 - - - - - - -
?/? c.1658G>A r.(?) p.(Arg553Gln) g.21674249C>T Copied from the Exome Variant Server KLHL34_000009 1/10446 1/6652 0/3794 - - - - - - -
?/? c.1739A>G r.(?) p.(Lys580Arg) g.21674168T>C Copied from the Exome Variant Server KLHL34_000008 1/10550 0/6720 1/3830 - - - - - - -
?/? c.1775T>C r.(?) p.(Val592Ala) g.21674132A>G Copied from the Exome Variant Server KLHL34_000007 2/10556 2/6723 0/3833 - - - - - - -
?/? c.1798G>A r.(?) p.(Asp600Asn) g.21674109C>T Copied from the Exome Variant Server KLHL34_000006 1/10559 1/6724 0/3835 - - - - - - -
?/? c.1802G>A r.(?) p.(Arg601His) g.21674105C>T Copied from the Exome Variant Server KLHL34_000005 1/10560 1/6725 0/3835 - - - - - - -
?/? c.1819T>A r.(?) p.(Cys607Ser) g.21674088A>T Copied from the Exome Variant Server KLHL34_000004 1/10560 1/6725 0/3835 - - - - - - -
?/? c.1850G>C r.(?) p.(Arg617Pro) g.21674057C>G Copied from the Exome Variant Server KLHL34_000003 3/10562 0/6727 3/3835 - - - - - - -
?/? c.1887C>T r.(=) p.(=) g.21674020G>A Copied from the Exome Variant Server KLHL34_000002 9/10563 7/6728 2/3835 - - - - - - -
?/? c.1918G>A r.(?) p.(Asp640Asn) g.21673989C>T Copied from the Exome Variant Server KLHL34_000001 1/10563 1/6728 0/3835 - - - - - - -
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