Unique variants in gene RHBDF2

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

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

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 1 - c.95C>T r.(?) p.(Pro32Leu) g.74477512G>A - RHBDF2_000038 - - - - Despoina Kalfakakou
./. 1 - c.129G>A r.(=) p.(=) g.74477478C>T - RHBDF2_000033 - - - - Despoina Kalfakakou
./. 1 - c.150+24C>A r.(=) p.(=) g.74477433G>T - RHBDF2_000053 - - - - Despoina Kalfakakou
./. 1 - c.151-35A>T r.(=) p.(=) g.74475971T>A - RHBDF2_000058 - - - - Despoina Kalfakakou
./. 1 - c.151-7C>G r.(=) p.(=) g.74475943G>C - RHBDF2_000059 - - - - Despoina Kalfakakou
./. 1 - c.178G>A r.(?) p.(Val60Ile) g.74475909C>T - RHBDF2_000022 - - - - Despoina Kalfakakou
./. 1 - c.272+10C>G r.(=) p.(=) g.74475805G>C - RHBDF2_000019 - - - - Despoina Kalfakakou
./. 1 - c.273-52T>G r.(=) p.(=) g.74475411A>C - RHBDF2_000012 - - - - Despoina Kalfakakou
./. 1 - c.300C>T r.(=) p.(=) g.74475332G>A - RHBDF2_000011 - - - - Despoina Kalfakakou
./. 1 - c.304G>A r.(?) p.(Asp102Asn) g.74475328C>T - RHBDF2_000060 - - - - Despoina Kalfakakou
./. 6 - c.314G>A r.(?) p.(Gly105Glu) g.74475318C>T - RHBDF2_000021 - - - - Despoina Kalfakakou
./. 1 - c.327G>T r.(?) p.(Gln109His) g.74475305C>A - RHBDF2_000020 - - - - Despoina Kalfakakou
./. 1 - c.337C>T r.(?) p.(Arg113Cys) g.74475295G>A - RHBDF2_000044 - - - - Despoina Kalfakakou
./. 1 - c.362G>T r.(?) p.(Arg121Leu) g.74475270C>A - RHBDF2_000055 - - - - Despoina Kalfakakou
./. 1 - c.371G>A r.(?) p.(Arg124His) g.74475261C>T - RHBDF2_000004 - - - - Despoina Kalfakakou
./. 1 - c.391C>T r.(?) p.(Arg131Cys) g.74475241G>A - RHBDF2_000046 - - - - Despoina Kalfakakou
./. 1 - c.423G>A r.(=) p.(=) g.74475209C>T - RHBDF2_000051 - - - - Despoina Kalfakakou
./. 1 - c.459G>A r.(=) p.(=) g.74475173C>T - RHBDF2_000039 - - - - Despoina Kalfakakou
./. 2 - c.510G>A r.(=) p.(=) g.74475050C>T - RHBDF2_000063 - - - - Despoina Kalfakakou
./. 1 - c.546G>A r.(=) p.(=) g.74475014C>T - RHBDF2_000062 rs3744044 - - - Despoina Kalfakakou
./. 1 - c.561C>G r.(=) p.(=) g.74474999G>C - RHBDF2_000050 - - - - Despoina Kalfakakou
./. 1 - c.586G>C r.(?) p.(Val196Leu) g.74474974C>G - RHBDF2_000049 - - - - Despoina Kalfakakou
./. 1 - c.673-51C>T r.(=) p.(=) g.74473918G>A - RHBDF2_000042 - - - - Despoina Kalfakakou
./. 1 - c.673G>A r.(?) p.(Gly225Arg) g.74473867C>T - RHBDF2_000010 - - - - Despoina Kalfakakou
./. 1 - c.684G>A r.(=) p.(=) g.74473856C>T - RHBDF2_000037 - - - - Despoina Kalfakakou
./. 1 - c.788C>T r.(?) p.(Ser263Phe) g.74473752G>A - RHBDF2_000070 - - - - Despoina Kalfakakou
./. 21 - c.801+41G>T r.(=) p.(=) g.74473698C>A - RHBDF2_000003 - - - - Despoina Kalfakakou
./. 2 - c.853G>A r.(?) p.(Ala285Thr) g.74473329C>T - RHBDF2_000002 - - - - Despoina Kalfakakou
./. 1 - c.920+30G>T r.(=) p.(=) g.74473232C>A - RHBDF2_000009 - - - - Despoina Kalfakakou
./. 6 - c.949G>A r.(?) p.(Gly317Arg) g.74473078C>T - RHBDF2_000018 - - - - Despoina Kalfakakou
./. 2 - c.955C>T r.(?) p.(Arg319Trp) g.74473072G>A - RHBDF2_000008 - - - - Despoina Kalfakakou
./. 1 - c.956G>A r.(?) p.(Arg319Gln) g.74473071C>T - RHBDF2_000054 - - - - Despoina Kalfakakou
./. 1 - c.961G>A r.(?) p.(Gly321Ser) g.74473066C>T - RHBDF2_000040 - - - - Despoina Kalfakakou
./. 1 - c.995C>T r.(?) p.(Ala332Val) g.74473032G>A - RHBDF2_000026 - - - - Despoina Kalfakakou
./. 3 - c.1004G>A r.(?) p.(Arg335Gln) g.74473023C>T - RHBDF2_000025 - - - - Despoina Kalfakakou
./. 1 - c.1026C>T r.(=) p.(=) g.74473001G>A - RHBDF2_000069 - - - - Despoina Kalfakakou
./. 1 - c.1116-47G>A r.(=) p.(=) g.74471270C>T - RHBDF2_000024 - - - - Despoina Kalfakakou
./. 2 - c.1116-46T>C r.(=) p.(=) g.74471269A>G - RHBDF2_000023 - - - - Despoina Kalfakakou
./. 10 - c.1116-35G>A r.(=) p.(=) g.74471258C>T - RHBDF2_000001 rs62085019 - - - Despoina Kalfakakou
./. 1 - c.1189G>T r.(?) p.(Ala397Ser) g.74471150C>A - RHBDF2_000045 - - - - Despoina Kalfakakou
./. 1 - c.1227+26G>C r.(=) p.(=) g.74471086C>G - RHBDF2_000064 - - - - Despoina Kalfakakou
./. 1 - c.1303-8T>C r.(=) p.(=) g.74470624A>G - RHBDF2_000065 - - - - Despoina Kalfakakou
./. 1 - c.1335A>G r.(=) p.(=) g.74470584T>C - RHBDF2_000016 - - - - Despoina Kalfakakou
./. 1 - c.1346G>A r.(?) p.(Arg449Gln) g.74470573C>T - RHBDF2_000048 - - - - Despoina Kalfakakou
./. 1 - c.1380C>T r.(=) p.(=) g.74470539G>A - RHBDF2_000015 rs34005184 - - - Despoina Kalfakakou
./. 1 - c.1395G>T r.(?) p.(Glu465Asp) g.74470524C>A - RHBDF2_000028 - - - - Despoina Kalfakakou
./. 11 - c.1396C>T r.(?) p.(Arg466Trp) g.74470523G>A - RHBDF2_000005 - - - - Despoina Kalfakakou
./. 1 - c.1414G>A r.(?) p.(Val472Ile) g.74470505C>T - RHBDF2_000052 - - - - Despoina Kalfakakou
./. 1 - c.1432G>A r.(?) p.(Gly478Arg) g.74470487C>T - RHBDF2_000027 - - - - Despoina Kalfakakou
./. 3 - c.1486A>G r.(?) p.(Lys496Glu) g.74470203T>C - RHBDF2_000035 - - - - Despoina Kalfakakou
./. 11 - c.1495G>T r.(?) p.(Asp499Tyr) g.74470194C>A - RHBDF2_000006 rs11553545 - - - Despoina Kalfakakou
./. 1 - c.1531G>A r.(?) p.(Gly511Ser) g.74470158C>T - RHBDF2_000032 - - - - Despoina Kalfakakou
./. 5 - c.1575-40C>A r.(=) p.(=) g.74470024G>T - RHBDF2_000014 - - - - Despoina Kalfakakou
./. 28 - c.1575-16T>A r.(=) p.(=) g.74470000A>T - RHBDF2_000013 - - - - Despoina Kalfakakou
./. 1 - c.1599C>T r.(=) p.(=) g.74469960G>A - RHBDF2_000056 - - - - Despoina Kalfakakou
./. 1 - c.1600G>A r.(?) p.(Gly534Ser) g.74469959C>T - RHBDF2_000061 - - - - Despoina Kalfakakou
./. 6 - c.1638+7G>A r.(=) p.(=) g.74469914C>T - RHBDF2_000031 - - - - Despoina Kalfakakou
./. 1 - c.1638+13_1638+14insCCTG r.(=) p.(=) g.74469907_74469908insCAGG - RHBDF2_000043 - - - - Despoina Kalfakakou
./. 1 - c.1639-11C>T r.(=) p.(=) g.74469835G>A - RHBDF2_000030 - - - - Despoina Kalfakakou
./. 1 - c.1706G>A r.(?) p.(Arg569His) g.74469757C>T - RHBDF2_000067 - - - - Despoina Kalfakakou
./. 1 - c.1733+42C>A r.(=) p.(=) g.74469688G>T - RHBDF2_000068 - - - - Despoina Kalfakakou
./. 1 - c.1733+42C>G r.(=) p.(=) g.74469688G>C - RHBDF2_000047 - - - - Despoina Kalfakakou
./. 9 - c.1733+44_1733+45insC r.(=) p.(=) g.74469685_74469686insG - RHBDF2_000017 - - - - Despoina Kalfakakou
./. 2 - c.1734-39G>A r.(=) p.(=) g.74469448C>T - RHBDF2_000036 - - - - Despoina Kalfakakou
./. 22 - c.1812G>A r.(=) p.(=) g.74469185C>T - RHBDF2_000007 - - - - Despoina Kalfakakou
./. 1 - c.1910+32C>T r.(=) p.(=) g.74469055G>A - RHBDF2_000066 - - - - Despoina Kalfakakou
./. 4 - c.1962C>T r.(=) p.(=) g.74468870G>A - RHBDF2_000029 - - - - Despoina Kalfakakou
./. 2 - c.1977C>T r.(=) p.(=) g.74468855G>A - RHBDF2_000034 - - - - Despoina Kalfakakou
./. 1 - c.2365G>A r.(?) p.(Ala789Thr) g.74467834C>T - RHBDF2_000041 - - - - Despoina Kalfakakou
./. 1 - c.2393C>G r.(?) p.(Pro798Arg) g.74467806G>C - RHBDF2_000057 - - - - Despoina Kalfakakou
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