All transcript variants in gene MID2

Information The variants shown are described using the NM_012216.3 transcript reference sequence.

70 entries on 1 page. Showing entries 1 - 70.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.21C>T r.(=) p.(=) g.107083916C>T Copied from the Exome Variant Server MID2_000001 1/10562 1/6727 0/3835
?/? c.167G>A r.(?) p.(Arg56His) g.107084062G>A Copied from the Exome Variant Server MID2_000002 1/10563 1/6728 0/3835
?/? c.175G>A r.(?) p.(Val59Ile) g.107084070G>A Copied from the Exome Variant Server MID2_000003 1/10563 0/6728 1/3835
?/? c.180A>C r.(=) p.(=) g.107084075A>C Copied from the Exome Variant Server MID2_000004 1150/10563 434/6728 716/3835
?/? c.247A>G r.(?) p.(Ile83Val) g.107084142A>G Copied from the Exome Variant Server MID2_000005 1/10563 0/6728 1/3835
?/? c.263G>A r.(?) p.(Arg88Gln) g.107084158G>A Copied from the Exome Variant Server MID2_000006 1/10563 1/6728 0/3835
?/? c.347C>A r.(?) p.(Ser116Tyr) g.107084242C>A Copied from the Exome Variant Server MID2_000007 1/10563 0/6728 1/3835
?/? c.362G>A r.(?) p.(Arg121His) g.107084257G>A Copied from the Exome Variant Server MID2_000008 2/10563 2/6728 0/3835
?/? c.363C>A r.(=) p.(=) g.107084258C>A Copied from the Exome Variant Server MID2_000009 1/10563 0/6728 1/3835
?/? c.364C>T r.(?) p.(Arg122Trp) g.107084259C>T Copied from the Exome Variant Server MID2_000010 3/10563 0/6728 3/3835
?/? c.391G>A r.(?) p.(Ala131Thr) g.107084286G>A Copied from the Exome Variant Server MID2_000011 1/10563 0/6728 1/3835
?/? c.438G>A r.(=) p.(=) g.107084333G>A Copied from the Exome Variant Server MID2_000012 2/10563 0/6728 2/3835
?/? c.448G>T r.(?) p.(Ala150Ser) g.107084343G>T Copied from the Exome Variant Server MID2_000013 1/10563 1/6728 0/3835
?/? c.490C>G r.(?) p.(Arg164Gly) g.107084385C>G Copied from the Exome Variant Server MID2_000014 2/10563 2/6728 0/3835
?/? c.499C>G r.(?) p.(Arg167Gly) g.107084394C>G Copied from the Exome Variant Server MID2_000015 1/10563 0/6728 1/3835
?/? c.506C>T r.(?) p.(Thr169Met) g.107084401C>T Copied from the Exome Variant Server MID2_000016 1/10563 1/6728 0/3835
?/? c.553G>A r.(?) p.(Val185Met) g.107084448G>A Copied from the Exome Variant Server MID2_000017 1/10563 0/6728 1/3835
?/? c.571C>A r.(=) p.(=) g.107084466C>A Copied from the Exome Variant Server MID2_000018 1/10563 1/6728 0/3835
?/? c.637T>C r.(=) p.(=) g.107084532T>C Copied from the Exome Variant Server MID2_000019 2/10563 1/6728 1/3835
?/? c.720+17G>A r.(=) p.(=) g.107084632G>A Copied from the Exome Variant Server MID2_000020 58/10560 3/6725 55/3835
?/? c.721-48T>A r.(=) p.(=) g.107097791T>A Copied from the Exome Variant Server MID2_000021 2/10563 0/6728 2/3835
?/? c.721-16C>A r.(=) p.(=) g.107097823C>A Copied from the Exome Variant Server MID2_000022 1/10563 1/6728 0/3835
?/? c.721-9C>T r.(=) p.(=) g.107097830C>T Copied from the Exome Variant Server MID2_000023 1/10563 0/6728 1/3835
?/? c.765C>T r.(=) p.(=) g.107097883C>T Copied from the Exome Variant Server MID2_000024 2/10563 0/6728 2/3835
?/? c.816+23A>G r.(=) p.(=) g.107097957A>G Copied from the Exome Variant Server MID2_000025 1/10563 1/6728 0/3835
?/? c.817-17del r.(=) p.(=) g.107147171del Copied from the Exome Variant Server MID2_000026 1/10205 0/6484 1/3721
?/? c.900C>T r.(=) p.(=) g.107147271C>T Copied from the Exome Variant Server MID2_000027 3/10563 0/6728 3/3835
?/? c.924+7C>T r.(=) p.(=) g.107147302C>T Copied from the Exome Variant Server MID2_000028 13/10562 0/6727 13/3835
?/? c.924+8G>A r.(=) p.(=) g.107147303G>A Copied from the Exome Variant Server MID2_000029 1/10562 1/6727 0/3835
?/? c.924+11G>C r.(=) p.(=) g.107147306G>C Copied from the Exome Variant Server MID2_000030 3/10562 2/6727 1/3835
?/? c.925-38G>C r.(=) p.(=) g.107148670G>C Copied from the Exome Variant Server MID2_000031 1/10563 0/6728 1/3835
?/? c.929T>C r.(?) p.(Met310Thr) g.107148712T>C Copied from the Exome Variant Server MID2_000032 2/10563 2/6728 0/3835
?/? c.968G>A r.(?) p.(Arg323His) g.107148751G>A Copied from the Exome Variant Server MID2_000033 1/10563 1/6728 0/3835
?/? c.991G>A r.(?) p.(Val331Ile) g.107148774G>A Copied from the Exome Variant Server MID2_000034 1/10563 1/6728 0/3835
?/? c.1039C>T r.(?) p.(Arg347Trp) g.107148822C>T Copied from the Exome Variant Server MID2_000035 1/10563 1/6728 0/3835
?/? c.1067C>T r.(?) p.(Ala356Val) g.107148850C>T Copied from the Exome Variant Server MID2_000036 1/10563 1/6728 0/3835
?/? c.1074-46T>C r.(=) p.(=) g.107159186T>C Copied from the Exome Variant Server MID2_000037 1/10563 0/6728 1/3835
?/? c.1074-44G>A r.(=) p.(=) g.107159188G>A Copied from the Exome Variant Server MID2_000038 2/10563 0/6728 2/3835
?/? c.1074-8del r.(=) p.(=) g.107159224del Copied from the Exome Variant Server MID2_000039 47/10205 30/6484 17/3721
?/? c.1133C>A r.(?) p.(Ala378Asp) g.107159291C>A Copied from the Exome Variant Server MID2_000040 401/10562 342/6727 59/3835
?/? c.1201+14G>A r.(=) p.(=) g.107159373G>A Copied from the Exome Variant Server MID2_000041 1/10548 1/6719 0/3829
?/? c.1201+16G>A r.(=) p.(=) g.107159375G>A Copied from the Exome Variant Server MID2_000042 40/10549 0/6718 40/3831
?/? c.1201+34del r.(=) p.(=) g.107159393del Copied from the Exome Variant Server MID2_000044 22/10044 17/6414 5/3630
?/? c.1201+34dup r.(=) p.(=) g.107159393dup Copied from the Exome Variant Server MID2_000043 11/10044 5/6414 6/3630
?/? c.1294A>T r.(?) p.(Ser432Cys) g.107160828A>T Copied from the Exome Variant Server MID2_000045 1/10563 1/6728 0/3835
?/? c.1306C>T r.(?) p.(Leu436Phe) g.107160840C>T Copied from the Exome Variant Server MID2_000046 1/10563 1/6728 0/3835
?/? c.1423G>A r.(?) p.(Gly475Arg) g.107160957G>A Copied from the Exome Variant Server MID2_000047 1/10563 1/6728 0/3835
?/? c.1426G>T r.(?) p.(Ala476Ser) g.107160960G>T Copied from the Exome Variant Server MID2_000048 1/10563 0/6728 1/3835
?/? c.1435+35A>G r.(=) p.(=) g.107161004A>G Copied from the Exome Variant Server MID2_000049 1/10563 1/6728 0/3835
?/? c.1436-19G>A r.(=) p.(=) g.107167554G>A Copied from the Exome Variant Server MID2_000050 6/10563 0/6728 6/3835
?/? c.1475A>G r.(?) p.(Asn492Ser) g.107167612A>G Copied from the Exome Variant Server MID2_000051 1/10563 1/6728 0/3835
?/? c.1568A>G r.(?) p.(Asn523Ser) g.107167705A>G Copied from the Exome Variant Server MID2_000052 1/10563 1/6728 0/3835
?/? c.1597+43C>G r.(=) p.(=) g.107167777C>G Copied from the Exome Variant Server MID2_000053 1/10563 0/6728 1/3835
?/? c.1598-27_1598-26del r.(=) p.(=) g.107169297_107169298del Copied from the Exome Variant Server MID2_000054 104/10145 60/6450 44/3695
?/? c.1598-27_1598-26dup r.(=) p.(=) g.107169297_107169298dup Copied from the Exome Variant Server MID2_000055 108/10145 62/6450 46/3695
?/? c.1598-26del r.(=) p.(=) g.107169298del Copied from the Exome Variant Server MID2_000057 1396/10145 918/6450 478/3695
?/? c.1598-26dup r.(=) p.(=) g.107169298dup Copied from the Exome Variant Server MID2_000056 1071/10145 692/6450 379/3695
?/? c.1602A>G r.(=) p.(=) g.107169328A>G Copied from the Exome Variant Server MID2_000058 66/10560 1/6727 65/3833
?/? c.1637A>G r.(?) p.(Lys546Arg) g.107169363A>G Copied from the Exome Variant Server MID2_000059 14/10563 1/6728 13/3835
?/? c.1652A>G r.(?) p.(Asn551Ser) g.107169378A>G Copied from the Exome Variant Server MID2_000060 1/10563 1/6728 0/3835
?/? c.1656T>C r.(=) p.(=) g.107169382T>C Copied from the Exome Variant Server MID2_000061 10/10563 0/6728 10/3835
?/? c.1660T>C r.(=) p.(=) g.107169386T>C Copied from the Exome Variant Server MID2_000062 1/10563 0/6728 1/3835
?/? c.1734T>C r.(=) p.(=) g.107169460T>C Copied from the Exome Variant Server MID2_000063 1/10563 0/6728 1/3835
?/? c.1768_1769insG r.(?) p.(Cys590Trpfs*27) g.107169494_107169495insG Copied from the Exome Variant Server MID2_000064 52/10205 39/6484 13/3721
?/? c.1806-35A>C r.(=) p.(=) g.107169866A>C Copied from the Exome Variant Server MID2_000065 250/10561 1/6726 249/3835
?/? c.1806-13C>T r.(=) p.(=) g.107169888C>T Copied from the Exome Variant Server MID2_000066 1/10563 1/6728 0/3835
?/? c.1903G>T r.(?) p.(Val635Leu) g.107169998G>T Copied from the Exome Variant Server MID2_000067 1/10563 1/6728 0/3835
?/? c.2137C>T r.(?) p.(Pro713Ser) g.107170232C>T Copied from the Exome Variant Server MID2_000068 2/10563 0/6728 2/3835
?/? c.2143C>T r.(?) p.(Arg715Trp) g.107170238C>T Copied from the Exome Variant Server MID2_000069 1/10563 1/6728 0/3835
?/? c.2144G>A r.(?) p.(Arg715Gln) g.107170239G>A Copied from the Exome Variant Server MID2_000070 1/10563 0/6728 1/3835
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