Full data view for gene BHLHB9

Information The variants shown are described using the NM_030639.2 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
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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.-43C>T r.(=) p.(=) g.102003881C>T Copied from the Exome Variant Server BHLHB9_000001 5/10545 5/6717 0/3828 - - - - - - -
?/? c.-28G>C r.(=) p.(=) g.102003896G>C Copied from the Exome Variant Server BHLHB9_000002 5/10552 5/6722 0/3830 - - - - - - -
?/? c.-3A>G r.(=) p.(=) g.102003921A>G Copied from the Exome Variant Server BHLHB9_000003 2/10560 2/6726 0/3834 - - - - - - -
?/? c.11C>G r.(?) p.(Thr4Ser) g.102003934C>G Copied from the Exome Variant Server BHLHB9_000004 1/10562 1/6727 0/3835 - - - - - - -
?/? c.52G>C r.(?) p.(Ala18Pro) g.102003975G>C Copied from the Exome Variant Server BHLHB9_000005 1/10563 0/6728 1/3835 - - - - - - -
?/? c.59T>C r.(?) p.(Ile20Thr) g.102003982T>C Copied from the Exome Variant Server BHLHB9_000006 1/10563 0/6728 1/3835 - - - - - - -
?/? c.98T>G r.(?) p.(Val33Gly) g.102004021T>G Copied from the Exome Variant Server BHLHB9_000007 1/10563 1/6728 0/3835 - - - - - - -
?/? c.105G>A r.(=) p.(=) g.102004028G>A Copied from the Exome Variant Server BHLHB9_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.123G>A r.(=) p.(=) g.102004046G>A Copied from the Exome Variant Server BHLHB9_000014 149/10563 0/6728 149/3835 - - - - - - -
?/? c.210G>A r.(=) p.(=) g.102004133G>A Copied from the Exome Variant Server BHLHB9_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.233C>T r.(?) p.(Pro78Leu) g.102004156C>T Copied from the Exome Variant Server BHLHB9_000008 1/10563 1/6728 0/3835 - - - - - - -
?/? c.300A>T r.(=) p.(=) g.102004223A>T Copied from the Exome Variant Server BHLHB9_000009 1/10563 1/6728 0/3835 - - - - - - -
?/? c.385G>T r.(?) p.(Ala129Ser) g.102004308G>T Copied from the Exome Variant Server BHLHB9_000010 19/10563 0/6728 19/3835 - - - - - - -
?/? c.394A>G r.(?) p.(Ser132Gly) g.102004317A>G Copied from the Exome Variant Server BHLHB9_000012 136/10563 124/6728 12/3835 - - - - - - -
?/? c.400A>G r.(?) p.(Ser134Gly) g.102004323A>G Copied from the Exome Variant Server BHLHB9_000015 1/10563 0/6728 1/3835 - - - - - - -
?/? c.461C>T r.(?) p.(Ala154Val) g.102004384C>T Copied from the Exome Variant Server BHLHB9_000018 8/10563 7/6728 1/3835 - - - - - - -
?/? c.462G>A r.(=) p.(=) g.102004385G>A Copied from the Exome Variant Server BHLHB9_000021 1/10563 1/6728 0/3835 - - - - - - -
?/? c.565A>C r.(?) p.(Asn189His) g.102004488A>C Copied from the Exome Variant Server BHLHB9_000023 2/10563 2/6728 0/3835 - - - - - - -
?/? c.567T>A r.(?) p.(Asn189Lys) g.102004490T>A Copied from the Exome Variant Server BHLHB9_000025 3/10563 3/6728 0/3835 - - - - - - -
?/? c.655A>G r.(?) p.(Ile219Val) g.102004578A>G Copied from the Exome Variant Server BHLHB9_000027 1/10563 1/6728 0/3835 - - - - - - -
?/? c.663C>T r.(=) p.(=) g.102004586C>T Copied from the Exome Variant Server BHLHB9_000029 1/10563 1/6728 0/3835 - - - - - - -
?/? c.665A>T r.(?) p.(Asn222Ile) g.102004588A>T Copied from the Exome Variant Server BHLHB9_000031 1/10563 0/6728 1/3835 - - - - - - -
?/? c.713C>T r.(?) p.(Pro238Leu) g.102004636C>T Copied from the Exome Variant Server BHLHB9_000032 24/10562 0/6727 24/3835 - - - - - - -
?/? c.739A>G r.(?) p.(Ile247Val) g.102004662A>G Copied from the Exome Variant Server BHLHB9_000033 1/10559 1/6725 0/3834 - - - - - - -
?/? c.753C>T r.(=) p.(=) g.102004676C>T Copied from the Exome Variant Server BHLHB9_000034 2/10560 0/6726 2/3834 - - - - - - -
?/? c.796C>T r.(?) p.(Arg266Cys) g.102004719C>T Copied from the Exome Variant Server BHLHB9_000035 1/10562 0/6728 1/3834 - - - - - - -
?/? c.820T>C r.(?) p.(Cys274Arg) g.102004743T>C Copied from the Exome Variant Server BHLHB9_000036 1/10563 1/6728 0/3835 - - - - - - -
?/? c.844C>T r.(?) p.(Arg282Cys) g.102004767C>T Copied from the Exome Variant Server BHLHB9_000037 1/10563 0/6728 1/3835 - - - - - - -
?/? c.851A>G r.(?) p.(Asp284Gly) g.102004774A>G Copied from the Exome Variant Server BHLHB9_000038 2/10563 0/6728 2/3835 - - - - - - -
?/? c.889C>A r.(?) p.(Arg297Ser) g.102004812C>A Copied from the Exome Variant Server BHLHB9_000039 1/10563 0/6728 1/3835 - - - - - - -
?/? c.900G>A r.(=) p.(=) g.102004823G>A Copied from the Exome Variant Server BHLHB9_000040 1/10563 0/6728 1/3835 - - - - - - -
?/? c.928T>A r.(?) p.(Phe310Ile) g.102004851T>A Copied from the Exome Variant Server BHLHB9_000041 1/10563 1/6728 0/3835 - - - - - - -
?/? c.943A>G r.(?) p.(Lys315Glu) g.102004866A>G Copied from the Exome Variant Server BHLHB9_000042 1/10563 1/6728 0/3835 - - - - - - -
?/? c.952T>C r.(?) p.(Cys318Arg) g.102004875T>C Copied from the Exome Variant Server BHLHB9_000043 58/10563 54/6728 4/3835 - - - - - - -
?/? c.1048G>A r.(?) p.(Val350Ile) g.102004971G>A Copied from the Exome Variant Server BHLHB9_000044 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1055A>G r.(?) p.(Asn352Ser) g.102004978A>G Copied from the Exome Variant Server BHLHB9_000013 3/10563 2/6728 1/3835 - - - - - - -
?/? c.1168A>G r.(?) p.(Asn390Asp) g.102005091A>G Copied from the Exome Variant Server BHLHB9_000016 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1195C>T r.(?) p.(Arg399Cys) g.102005118C>T Copied from the Exome Variant Server BHLHB9_000019 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1331A>G r.(?) p.(Asn444Ser) g.102005254A>G Copied from the Exome Variant Server BHLHB9_000020 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1390G>A r.(?) p.(Val464Ile) g.102005313G>A Copied from the Exome Variant Server BHLHB9_000022 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1426A>G r.(?) p.(Thr476Ala) g.102005349A>G Copied from the Exome Variant Server BHLHB9_000024 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1443G>A r.(?) p.(Met481Ile) g.102005366G>A Copied from the Exome Variant Server BHLHB9_000026 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1640T>G r.(?) p.(Met547Arg) g.102005563T>G Copied from the Exome Variant Server BHLHB9_000028 1/10561 0/6727 1/3834 - - - - - - -
?/? c.*42T>C r.(=) p.(=) g.102005609T>C Copied from the Exome Variant Server BHLHB9_000030 1/10461 0/6663 1/3798 - - - - - - -
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