All transcript variants in gene IDS

Information The variants shown are described using the NM_000202.5 transcript reference sequence.

86 entries on 1 page. Showing entries 1 - 86.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.13C>T r.(?) p.(Arg5Trp) g.148586655G>A Copied from the Exome Variant Server IDS_000086 1/10558 1/6725 0/3833
?/? c.18C>A r.(=) p.(=) g.148586650G>T Copied from the Exome Variant Server IDS_000085 1/10559 0/6724 1/3835
?/? c.41G>A r.(?) p.(Gly14Asp) g.148586627C>T Copied from the Exome Variant Server IDS_000084 2/10562 0/6727 2/3835
?/? c.58G>C r.(?) p.(Val20Leu) g.148586610C>G Copied from the Exome Variant Server IDS_000074 2/10563 0/6728 2/3835
?/? c.103+7C>T r.(=) p.(=) g.148586558G>A Copied from the Exome Variant Server IDS_000073 1/10563 1/6728 0/3835
?/? c.103+32del r.(=) p.(=) g.148586533del Copied from the Exome Variant Server IDS_000072 4/10205 4/6484 0/3721
?/? c.103+45_103+48del r.(=) p.(=) g.148586517_148586520del Copied from the Exome Variant Server IDS_000049 36/10204 20/6483 16/3721
?/? c.104-15C>T r.(=) p.(=) g.148585838G>A Copied from the Exome Variant Server IDS_000048 1/10563 1/6728 0/3835
?/? c.104-9C>G r.(=) p.(=) g.148585832G>C Copied from the Exome Variant Server IDS_000047 1/10563 1/6728 0/3835
?/? c.104A>G r.(?) p.(Asp35Gly) g.148585823T>C Copied from the Exome Variant Server IDS_000046 6/10563 6/6728 0/3835
?/? c.114C>T r.(=) p.(=) g.148585813G>A Copied from the Exome Variant Server IDS_000045 1/10563 1/6728 0/3835
?/? c.123C>G r.(=) p.(=) g.148585804G>C Copied from the Exome Variant Server IDS_000044 10/10563 0/6728 10/3835
?/? c.126C>T r.(=) p.(=) g.148585801G>A Copied from the Exome Variant Server IDS_000043 10/10563 0/6728 10/3835
?/? c.162T>C r.(=) p.(=) g.148585765A>G Copied from the Exome Variant Server IDS_000042 1/10563 1/6728 0/3835
?/? c.236C>G r.(?) p.(Ala79Gly) g.148585691G>C Copied from the Exome Variant Server IDS_000041 1/10559 1/6724 0/3835
?/? c.240+44C>A r.(=) p.(=) g.148585643G>T Copied from the Exome Variant Server IDS_000040 1/10562 0/6727 1/3835
?/? c.241-31G>A r.(=) p.(=) g.148585050C>T Copied from the Exome Variant Server IDS_000039 4/10249 0/6537 4/3712
?/? c.336C>T r.(=) p.(=) g.148584924G>A Copied from the Exome Variant Server IDS_000038 5/10504 0/6677 5/3827
?/? c.395C>T r.(?) p.(Ser132Leu) g.148584865G>A Copied from the Exome Variant Server IDS_000037 1/10561 0/6727 1/3834
?/? c.396G>A r.(=) p.(=) g.148584864C>T Copied from the Exome Variant Server IDS_000036 7/10561 0/6727 7/3834
?/? c.418+11A>G r.(=) p.(=) g.148584831T>C Copied from the Exome Variant Server IDS_000035 1/10559 1/6726 0/3833
?/? c.419-28G>A r.(=) p.(=) g.148582596C>T Copied from the Exome Variant Server IDS_000034 4/10563 0/6728 4/3835
?/? c.437C>G r.(?) p.(Thr146Ser) g.148582550G>C Copied from the Exome Variant Server IDS_000033 1/10563 0/6728 1/3835
?/? c.438C>T r.(=) p.(=) g.148582549G>A Copied from the Exome Variant Server IDS_000025 3624/10563 2656/6728 968/3835
?/? c.445T>G r.(?) p.(Ser149Ala) g.148582542A>C Copied from the Exome Variant Server IDS_000024 2/10563 2/6728 0/3835
?/? c.450G>A r.(=) p.(=) g.148582537C>T Copied from the Exome Variant Server IDS_000023 1/10563 1/6728 0/3835
?/? c.465T>A r.(?) p.(Phe155Leu) g.148582522A>T Copied from the Exome Variant Server IDS_000022 120/10563 1/6728 119/3835
?/? c.467C>A r.(?) p.(Pro156Gln) g.148582520G>T Copied from the Exome Variant Server IDS_000021 123/10563 1/6728 122/3835
?/? c.501C>T r.(=) p.(=) g.148582486G>A Copied from the Exome Variant Server IDS_000020 1/10563 0/6728 1/3835
?/? c.507+6G>T r.(=) p.(=) g.148582474C>A Copied from the Exome Variant Server IDS_000019 3/10563 2/6728 1/3835
?/? c.507+14A>G r.(=) p.(=) g.148582466T>C Copied from the Exome Variant Server IDS_000018 1/10563 1/6728 0/3835
?/? c.507+17G>C r.(=) p.(=) g.148582463C>G Copied from the Exome Variant Server IDS_000017 1/10563 0/6728 1/3835
?/? c.515G>A r.(?) p.(Arg172Gln) g.148579831C>T Copied from the Exome Variant Server IDS_000016 1/10563 0/6728 1/3835
?/? c.517G>A r.(?) p.(Gly173Arg) g.148579829C>T Copied from the Exome Variant Server IDS_000015 1/10563 0/6728 1/3835
?/? c.575C>G r.(?) p.(Pro192Arg) g.148579771G>C Copied from the Exome Variant Server IDS_000014 2/10563 2/6728 0/3835
?/? c.584C>A r.(?) p.(Thr195Asn) g.148579762G>T Copied from the Exome Variant Server IDS_000013 1/10563 0/6728 1/3835
?/? c.641C>T r.(?) p.(Thr214Met) g.148579705G>A Copied from the Exome Variant Server IDS_000012 184/10563 0/6728 184/3835
?/? c.666C>T r.(=) p.(=) g.148579680G>A Copied from the Exome Variant Server IDS_000011 5/10563 5/6728 0/3835
?/? c.667G>A r.(?) p.(Val223Ile) g.148579679C>T Copied from the Exome Variant Server IDS_000010 1/10563 1/6728 0/3835
?/? c.708+44T>C r.(=) p.(=) g.148579594A>G Copied from the Exome Variant Server IDS_000009 2/10563 2/6728 0/3835
?/? c.727C>T r.(?) p.(Pro243Ser) g.148578029G>A Copied from the Exome Variant Server IDS_000008 1/10563 1/6728 0/3835
?/? c.733G>A r.(?) p.(Glu245Lys) g.148578023C>T Copied from the Exome Variant Server IDS_000007 1/10563 0/6728 1/3835
?/? c.754G>A r.(?) p.(Asp252Asn) g.148578002C>T Copied from the Exome Variant Server IDS_000006 24/10563 24/6728 0/3835
?/? c.760G>A r.(?) p.(Glu254Lys) g.148577996C>T Copied from the Exome Variant Server IDS_000005 1/10563 1/6728 0/3835
?/? c.781C>G r.(?) p.(Pro261Ala) g.148577975G>C Copied from the Exome Variant Server IDS_000004 4/10563 0/6728 4/3835
?/? c.825C>T r.(=) p.(=) g.148577931G>A Copied from the Exome Variant Server IDS_000003 14/10563 14/6728 0/3835
?/? c.833C>T r.(?) p.(Ala278Val) g.148577923G>A Copied from the Exome Variant Server IDS_000002 1/10563 0/6728 1/3835
?/? c.849G>C r.(=) p.(=) g.148577907C>G Copied from the Exome Variant Server IDS_000001 2/10563 2/6728 0/3835
?/? c.879+28T>C r.(=) p.(=) g.148577849A>G Copied from the Exome Variant Server IDS_000032 1/10563 0/6728 1/3835
?/? c.879+879_879+880insG r.(=) p.(=) g.148576997_148576998insC Copied from the Exome Variant Server IDS_000031 69/4460 4/2884 65/1576
?/? c.879+1260C>T r.(=) p.(=) g.148576617G>A Copied from the Exome Variant Server IDS_000030 13/3600 11/2391 2/1209
?/? c.879+1611_879+1612del r.(=) p.(=) g.148576265_148576266del Copied from the Exome Variant Server IDS_000029 9/5374 0/3327 9/2047
?/? c.879+1615T>C r.(=) p.(=) g.148576262A>G Copied from the Exome Variant Server IDS_000028 2/3600 2/2391 0/1209
?/? c.880-1144T>C r.(=) p.(=) g.148573115A>G Copied from the Exome Variant Server IDS_000027 1/4522 0/3104 1/1418
?/? c.884A>G r.(?) p.(Lys295Arg) g.148571967T>C Copied from the Exome Variant Server IDS_000026 11/10563 0/6728 11/3835
?/? c.925A>G r.(?) p.(Thr309Ala) g.148571926T>C Copied from the Exome Variant Server IDS_000071 50/10563 0/6728 50/3835
?/? c.937C>T r.(?) p.(Arg313Cys) g.148571914G>A Copied from the Exome Variant Server IDS_000070 1/10563 1/6728 0/3835
?/? c.950C>A r.(?) p.(Ala317Asp) g.148571901G>T Copied from the Exome Variant Server IDS_000069 2/10563 1/6728 1/3835
?/? c.1006+38T>C r.(=) p.(=) g.148571807A>G Copied from the Exome Variant Server IDS_000068 105/10563 0/6728 105/3835
?/? c.1006+39G>A r.(=) p.(=) g.148571806C>T Copied from the Exome Variant Server IDS_000067 3/10563 0/6728 3/3835
?/? c.1007-239T>G r.(=) p.(=) g.148568868A>C Copied from the Exome Variant Server IDS_000066 1/10481 0/6690 1/3791
?/? c.1007-193C>T r.(=) p.(=) g.148568822G>A Copied from the Exome Variant Server IDS_000065 1/10562 1/6727 0/3835
?/? c.1007-156C>T r.(=) p.(=) g.148568785G>A Copied from the Exome Variant Server IDS_000064 1/10561 1/6726 0/3835
?/? c.1046G>A r.(?) p.(Ser349Asn) g.148568590C>T Copied from the Exome Variant Server IDS_000063 1/10563 0/6728 1/3835
?/? c.1047C>T r.(=) p.(=) g.148568589G>A Copied from the Exome Variant Server IDS_000062 1/10563 1/6728 0/3835
?/? c.1074C>G r.(=) p.(=) g.148568562G>C Copied from the Exome Variant Server IDS_000061 5/10563 5/6728 0/3835
?/? c.1085A>G r.(?) p.(Tyr362Cys) g.148568551T>C Copied from the Exome Variant Server IDS_000060 2/10563 0/6728 2/3835
?/? c.1113G>A r.(=) p.(=) g.148568523C>T Copied from the Exome Variant Server IDS_000059 1/10563 1/6728 0/3835
?/? c.1136C>T r.(?) p.(Pro379Leu) g.148568500G>A Copied from the Exome Variant Server IDS_000058 1/10563 0/6728 1/3835
?/? c.1144G>C r.(?) p.(Asp382His) g.148568492C>G Copied from the Exome Variant Server IDS_000057 1/10563 0/6728 1/3835
?/? c.1181-51T>C r.(=) p.(=) g.148564800A>G Copied from the Exome Variant Server IDS_000056 1/10507 1/6689 0/3818
?/? c.1181-35T>C r.(=) p.(=) g.148564784A>G Copied from the Exome Variant Server IDS_000055 6/10544 0/6712 6/3832
?/? c.1181-14G>A r.(=) p.(=) g.148564763C>T Copied from the Exome Variant Server IDS_000054 1/10563 1/6728 0/3835
?/? c.1181-13C>T r.(=) p.(=) g.148564762G>A Copied from the Exome Variant Server IDS_000053 9/10563 9/6728 0/3835
?/? c.1227G>A r.(=) p.(=) g.148564703C>T Copied from the Exome Variant Server IDS_000052 1/10563 1/6728 0/3835
?/? c.1269C>T r.(=) p.(=) g.148564661G>A Copied from the Exome Variant Server IDS_000051 64/10563 0/6728 64/3835
?/? c.1290G>A r.(=) p.(=) g.148564640C>T Copied from the Exome Variant Server IDS_000050 1/10563 0/6728 1/3835
?/? c.1352C>T r.(?) p.(Pro451Leu) g.148564578G>A Copied from the Exome Variant Server IDS_000083 1/10563 1/6728 0/3835
?/? c.1363G>C r.(?) p.(Gly455Arg) g.148564567C>G Copied from the Exome Variant Server IDS_000082 1/10563 1/6728 0/3835
?/? c.1370C>G r.(?) p.(Pro457Arg) g.148564560G>C Copied from the Exome Variant Server IDS_000081 1/10563 0/6728 1/3835
?/? c.1490A>G r.(?) p.(Tyr497Cys) g.148564440T>C Copied from the Exome Variant Server IDS_000080 3/10563 0/6728 3/3835
?/? c.1499C>T r.(?) p.(Thr500Ile) g.148564431G>A Copied from the Exome Variant Server IDS_000079 2/10563 2/6728 0/3835
?/? c.1616C>G r.(?) p.(Ser539Cys) g.148564314G>C Copied from the Exome Variant Server IDS_000078 1/10563 1/6728 0/3835
?/? c.1621G>T r.(?) p.(Gly541Cys) g.148564309C>A Copied from the Exome Variant Server IDS_000077 1/10563 1/6728 0/3835
?/? c.1622G>A r.(?) p.(Gly541Asp) g.148564308C>T Copied from the Exome Variant Server IDS_000076 1/10563 1/6728 0/3835
?/? c.*7C>A r.(=) p.(=) g.148564270G>T Copied from the Exome Variant Server IDS_000075 1/10563 1/6728 0/3835
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