Full data view for gene BMX

Information The variants shown are described using the NM_001721.6 transcript reference sequence.

89 entries on 1 page. Showing entries 1 - 89.
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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.-9-33C>T r.(=) p.(=) g.15526435C>T Copied from the Exome Variant Server BMX_000001 1/10319 1/6622 0/3697 - - - - - - -
?/? c.14C>T r.(?) p.(Ser5Phe) g.15526490C>T Copied from the Exome Variant Server BMX_000002 1/10522 0/6697 1/3825 - - - - - - -
?/? c.27A>T r.(?) p.(Glu9Asp) g.15526503A>T Copied from the Exome Variant Server BMX_000003 1/10527 1/6700 0/3827 - - - - - - -
?/? c.77A>G r.(?) p.(Tyr26Cys) g.15526553A>G Copied from the Exome Variant Server BMX_000004 1/10538 1/6703 0/3835 - - - - - - -
?/? c.139-50G>T r.(=) p.(=) g.15527402G>T Copied from the Exome Variant Server BMX_000005 1/10554 1/6727 0/3827 - - - - - - -
?/? c.139-44T>C r.(=) p.(=) g.15527408T>C Copied from the Exome Variant Server BMX_000006 1/10558 1/6726 0/3832 - - - - - - -
?/? c.163A>G r.(?) p.(Ile55Val) g.15527476A>G Copied from the Exome Variant Server BMX_000007 1/10563 0/6728 1/3835 - - - - - - -
?/? c.243+11G>A r.(=) p.(=) g.15527567G>A Copied from the Exome Variant Server BMX_000008 1/10562 1/6727 0/3835 - - - - - - -
?/? c.244-32T>C r.(=) p.(=) g.15529528T>C Copied from the Exome Variant Server BMX_000009 1/10561 1/6726 0/3835 - - - - - - -
?/? c.244-29A>T r.(=) p.(=) g.15529531A>T Copied from the Exome Variant Server BMX_000010 2/10561 2/6726 0/3835 - - - - - - -
?/? c.264T>A r.(=) p.(=) g.15529580T>A Copied from the Exome Variant Server BMX_000011 14/10563 13/6728 1/3835 - - - - - - -
?/? c.283A>G r.(?) p.(Asn95Asp) g.15529599A>G Copied from the Exome Variant Server BMX_000012 2/10563 1/6728 1/3835 - - - - - - -
?/? c.295C>T r.(?) p.(Arg99*) g.15529611C>T Copied from the Exome Variant Server BMX_000013 1/10563 0/6728 1/3835 - - - - - - -
?/? c.325+19T>C r.(=) p.(=) g.15529660T>C Copied from the Exome Variant Server BMX_000014 1/10561 0/6728 1/3833 - - - - - - -
?/? c.325+37del r.(=) p.(=) g.15529678del Copied from the Exome Variant Server BMX_000015 36/10189 23/6471 13/3718 - - - - - - -
?/? c.325+44G>C r.(=) p.(=) g.15529685G>C Copied from the Exome Variant Server BMX_000016 1/10545 1/6717 0/3828 - - - - - - -
?/? c.325+45C>T r.(=) p.(=) g.15529686C>T Copied from the Exome Variant Server BMX_000017 1142/10544 8/6716 1134/3828 - - - - - - -
?/? c.336T>C r.(=) p.(=) g.15534245T>C Copied from the Exome Variant Server BMX_000018 4/10563 0/6728 4/3835 - - - - - - -
?/? c.343C>T r.(?) p.(His115Tyr) g.15534252C>T Copied from the Exome Variant Server BMX_000019 1/10563 0/6728 1/3835 - - - - - - -
?/? c.352G>C r.(?) p.(Val118Leu) g.15534261G>C Copied from the Exome Variant Server BMX_000020 1/10563 0/6728 1/3835 - - - - - - -
?/? c.382G>A r.(?) p.(Gly128Arg) g.15534291G>A Copied from the Exome Variant Server BMX_000021 2/10563 1/6728 1/3835 - - - - - - -
?/? c.445+32T>C r.(=) p.(=) g.15534386T>C Copied from the Exome Variant Server BMX_000022 1/10563 1/6728 0/3835 - - - - - - -
?/? c.445+40A>T r.(=) p.(=) g.15534394A>T Copied from the Exome Variant Server BMX_000023 1/10563 0/6728 1/3835 - - - - - - -
?/? c.445+50A>G r.(=) p.(=) g.15534404A>G Copied from the Exome Variant Server BMX_000024 1/10563 1/6728 0/3835 - - - - - - -
?/? c.446-47T>C r.(=) p.(=) g.15536005T>C Copied from the Exome Variant Server BMX_000025 36/10560 34/6725 2/3835 - - - - - - -
?/? c.446-41G>C r.(=) p.(=) g.15536011G>C Copied from the Exome Variant Server BMX_000026 1/10561 1/6726 0/3835 - - - - - - -
?/? c.510+30T>C r.(=) p.(=) g.15536146T>C Copied from the Exome Variant Server BMX_000028 1/10563 1/6728 0/3835 - - - - - - -
?/? c.510+62C>T r.(=) p.(=) g.15536178C>T Copied from the Exome Variant Server BMX_000027 370/3598 2/2389 368/1209 - - - - - - -
?/? c.511-30T>C r.(=) p.(=) g.15540439T>C Copied from the Exome Variant Server BMX_000029 1/10563 1/6728 0/3835 - - - - - - -
?/? c.511-16T>C r.(=) p.(=) g.15540453T>C Copied from the Exome Variant Server BMX_000030 1202/10563 7/6728 1195/3835 - - - - - - -
?/? c.640G>A r.(?) p.(Ala214Thr) g.15540598G>A Copied from the Exome Variant Server BMX_000031 3/10563 3/6728 0/3835 - - - - - - -
?/? c.641C>T r.(?) p.(Ala214Val) g.15540599C>T Copied from the Exome Variant Server BMX_000032 6/10563 6/6728 0/3835 - - - - - - -
?/? c.642G>A r.(=) p.(=) g.15540600G>A Copied from the Exome Variant Server BMX_000033 3/10563 2/6728 1/3835 - - - - - - -
?/? c.687C>T r.(=) p.(=) g.15540645C>T Copied from the Exome Variant Server BMX_000034 2/10563 1/6728 1/3835 - - - - - - -
?/? c.694A>C r.(?) p.(Met232Leu) g.15540652A>C Copied from the Exome Variant Server BMX_000035 1/10563 1/6728 0/3835 - - - - - - -
?/? c.718T>G r.(?) p.(Phe240Val) g.15540676T>G Copied from the Exome Variant Server BMX_000036 1/10563 1/6728 0/3835 - - - - - - -
?/? c.734A>C r.(?) p.(Gln245Pro) g.15540692A>C Copied from the Exome Variant Server BMX_000037 2/10562 2/6727 0/3835 - - - - - - -
?/? c.830+26C>T r.(=) p.(=) g.15543514C>T Copied from the Exome Variant Server BMX_000038 9/10563 9/6728 0/3835 - - - - - - -
?/? c.831-32C>T r.(=) p.(=) g.15544133C>T Copied from the Exome Variant Server BMX_000039 1015/10563 5/6728 1010/3835 - - - - - - -
?/? c.851C>T r.(?) p.(Ser284Leu) g.15544185C>T Copied from the Exome Variant Server BMX_000040 22/10563 21/6728 1/3835 - - - - - - -
?/? c.884+22G>A r.(=) p.(=) g.15544240G>A Copied from the Exome Variant Server BMX_000041 1/10563 0/6728 1/3835 - - - - - - -
?/? c.884+52T>A r.(=) p.(=) g.15544270T>A Copied from the Exome Variant Server BMX_000042 3/6038 3/3621 0/2417 - - - - - - -
?/? c.933A>G r.(=) p.(=) g.15548144A>G Copied from the Exome Variant Server BMX_000043 1/10563 1/6728 0/3835 - - - - - - -
?/? c.939+12T>A r.(=) p.(=) g.15548162T>A Copied from the Exome Variant Server BMX_000044 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1019+11T>C r.(=) p.(=) g.15549541T>C Copied from the Exome Variant Server BMX_000045 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1019+14G>A r.(=) p.(=) g.15549544G>A Copied from the Exome Variant Server BMX_000047 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1019+24C>A r.(=) p.(=) g.15549554C>A Copied from the Exome Variant Server BMX_000049 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1019+38C>T r.(=) p.(=) g.15549568C>T Copied from the Exome Variant Server BMX_000052 1/10561 0/6726 1/3835 - - - - - - -
?/? c.1019+43A>G r.(=) p.(=) g.15549573A>G Copied from the Exome Variant Server BMX_000053 2/10562 0/6727 2/3835 - - - - - - -
?/? c.1020-49C>G r.(=) p.(=) g.15552286C>G Copied from the Exome Variant Server BMX_000056 1/10550 0/6715 1/3835 - - - - - - -
?/? c.1020-41A>G r.(=) p.(=) g.15552294A>G Copied from the Exome Variant Server BMX_000058 1/10552 1/6717 0/3835 - - - - - - -
?/? c.1020-40_1020-37del r.(=) p.(=) g.15552295_15552298del Copied from the Exome Variant Server BMX_000060 7/10194 3/6473 4/3721 - - - - - - -
?/? c.1020-38G>A r.(=) p.(=) g.15552297G>A Copied from the Exome Variant Server BMX_000046 1/10554 1/6719 0/3835 - - - - - - -
?/? c.1035T>A r.(=) p.(=) g.15552350T>A Copied from the Exome Variant Server BMX_000048 2/10562 0/6727 2/3835 - - - - - - -
?/? c.1056T>C r.(=) p.(=) g.15552371T>C Copied from the Exome Variant Server BMX_000050 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1116G>A r.(=) p.(=) g.15552431G>A Copied from the Exome Variant Server BMX_000051 1/10560 0/6725 1/3835 - - - - - - -
?/? c.1147+20C>A r.(=) p.(=) g.15552482C>A Copied from the Exome Variant Server BMX_000054 2/10558 2/6727 0/3831 - - - - - - -
?/? c.1148-37A>T r.(=) p.(=) g.15554439A>T Copied from the Exome Variant Server BMX_000055 4/10563 4/6728 0/3835 - - - - - - -
?/? c.1148-36T>C r.(=) p.(=) g.15554440T>C Copied from the Exome Variant Server BMX_000057 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1148-25T>C r.(=) p.(=) g.15554451T>C Copied from the Exome Variant Server BMX_000059 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1188C>A r.(=) p.(=) g.15554516C>A Copied from the Exome Variant Server BMX_000061 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1222+52T>G r.(=) p.(=) g.15554602T>G Copied from the Exome Variant Server BMX_000062 3434/6038 2266/3621 1168/2417 - - - - - - -
?/? c.1223-31G>A r.(=) p.(=) g.15555226G>A Copied from the Exome Variant Server BMX_000063 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1265A>C r.(?) p.(Glu422Ala) g.15555299A>C Copied from the Exome Variant Server BMX_000064 17/10563 16/6728 1/3835 - - - - - - -
?/? c.1305G>A r.(=) p.(=) g.15555339G>A Copied from the Exome Variant Server BMX_000065 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1394+21G>C r.(=) p.(=) g.15555449G>C Copied from the Exome Variant Server BMX_000066 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1394+40T>C r.(=) p.(=) g.15555468T>C Copied from the Exome Variant Server BMX_000067 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1394+47G>A r.(=) p.(=) g.15555475G>A Copied from the Exome Variant Server BMX_000068 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1395-42T>C r.(=) p.(=) g.15560063T>C Copied from the Exome Variant Server BMX_000069 374/10563 3/6728 371/3835 - - - - - - -
?/? c.1421A>G r.(?) p.(Lys474Arg) g.15560131A>G Copied from the Exome Variant Server BMX_000070 1/10561 1/6726 0/3835 - - - - - - -
?/? c.1428T>C r.(=) p.(=) g.15560138T>C Copied from the Exome Variant Server BMX_000071 1/10561 1/6726 0/3835 - - - - - - -
?/? c.1574C>T r.(?) p.(Ala525Val) g.15560284C>T Copied from the Exome Variant Server BMX_000072 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1602C>T r.(=) p.(=) g.15560312C>T Copied from the Exome Variant Server BMX_000073 11/10561 0/6726 11/3835 - - - - - - -
?/? c.1611+6C>A r.(=) p.(=) g.15560327C>A Copied from the Exome Variant Server BMX_000074 9/10561 2/6726 7/3835 - - - - - - -
?/? c.1619G>A r.(?) p.(Arg540His) g.15561201G>A Copied from the Exome Variant Server BMX_000075 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1635C>T r.(=) p.(=) g.15561217C>T Copied from the Exome Variant Server BMX_000076 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1636A>G r.(?) p.(Arg546Gly) g.15561218A>G Copied from the Exome Variant Server BMX_000077 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1676+13C>T r.(=) p.(=) g.15561271C>T Copied from the Exome Variant Server BMX_000078 18/10563 0/6728 18/3835 - - - - - - -
?/? c.1677-37C>T r.(=) p.(=) g.15564889C>T Copied from the Exome Variant Server BMX_000079 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1677-35G>A r.(=) p.(=) g.15564891G>A Copied from the Exome Variant Server BMX_000080 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1711G>C r.(?) p.(Gly571Arg) g.15564960G>C Copied from the Exome Variant Server BMX_000081 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1795+20C>T r.(=) p.(=) g.15565064C>T Copied from the Exome Variant Server BMX_000082 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1796-36C>A r.(=) p.(=) g.15567927C>A Copied from the Exome Variant Server BMX_000083 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1865T>C r.(?) p.(Val622Ala) g.15568032T>C Copied from the Exome Variant Server BMX_000084 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1953+15T>C r.(=) p.(=) g.15568135T>C Copied from the Exome Variant Server BMX_000085 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1953+47G>A r.(=) p.(=) g.15568167G>A Copied from the Exome Variant Server BMX_000086 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1954-17_1954-15del r.(=) p.(=) g.15574179_15574181del Copied from the Exome Variant Server BMX_000087 40/10205 24/6484 16/3721 - - - - - - -
?/? c.2006T>C r.(?) p.(Leu669Pro) g.15574248T>C Copied from the Exome Variant Server BMX_000088 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*28T>C r.(=) p.(=) g.15574298T>C Copied from the Exome Variant Server BMX_000089 1/10563 1/6728 0/3835 - - - - - - -
Legend