Full data view for gene RAD54L

Information The variants shown are described using the NM_003579.3 transcript reference sequence.

153 entries on 2 pages. Showing entries 1 - 100.
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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.-55C>G r.(=) p.(=) g.46714023C>G Copied from the Exome Variant Server RAD54L_000001 1/4566 0/3182 1/1384 - - - - - - -
?/? c.-49T>C r.(=) p.(=) g.46714029T>C Copied from the Exome Variant Server RAD54L_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-24A>C r.(=) p.(=) g.46714054A>C Copied from the Exome Variant Server RAD54L_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-4C>G r.(=) p.(=) g.46714074C>G Copied from the Exome Variant Server RAD54L_000004 13/13006 12/8600 1/4406 - - - - - - -
?/? c.3+1G>A r.spl? p.? g.46714081G>A Copied from the Exome Variant Server RAD54L_000005 1/13006 0/8600 1/4406 - - - - - - -
?/? c.3+24T>G r.(=) p.(=) g.46714104T>G Copied from the Exome Variant Server RAD54L_000006 5/13006 0/8600 5/4406 - - - - - - -
?/? c.3+39G>C r.(=) p.(=) g.46714119G>C Copied from the Exome Variant Server RAD54L_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.4-12C>G r.(=) p.(=) g.46714172C>G Copied from the Exome Variant Server RAD54L_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.15_26del r.(?) p.(Ala6_Gln9del) g.46714195_46714206del Copied from the Exome Variant Server RAD54L_000009 1/12520 0/8254 1/4266 - - - - - - -
?/? c.48A>G r.(=) p.(=) g.46714228A>G Copied from the Exome Variant Server RAD54L_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.62A>G r.(?) p.(Asp21Gly) g.46714242A>G Copied from the Exome Variant Server RAD54L_000011 151/13006 134/8600 17/4406 - - - - - - -
?/? c.86T>C r.(?) p.(Leu29Pro) g.46714266T>C Copied from the Exome Variant Server RAD54L_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.91-52T>C r.(=) p.(=) g.46715620T>C Copied from the Exome Variant Server RAD54L_000013 3/5734 3/3982 0/1752 - - - - - - -
?/? c.91-9C>G r.(=) p.(=) g.46715663C>G Copied from the Exome Variant Server RAD54L_000014 2/13006 2/8600 0/4406 - - - - - - -
?/? c.103C>T r.(?) p.(Arg35Trp) g.46715684C>T Copied from the Exome Variant Server RAD54L_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.144G>C r.(=) p.(=) g.46715725G>C Copied from the Exome Variant Server RAD54L_000016 36/13006 0/8600 36/4406 - - - - - - -
?/? c.145T>C r.(?) p.(Ser49Pro) g.46715726T>C Copied from the Exome Variant Server RAD54L_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.210+6C>T r.(=) p.(=) g.46715797C>T Copied from the Exome Variant Server RAD54L_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.210+44C>T r.(=) p.(=) g.46715835C>T Copied from the Exome Variant Server RAD54L_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.211-48A>G r.(=) p.(=) g.46724310A>G Copied from the Exome Variant Server RAD54L_000020 24/13006 1/8600 23/4406 - - - - - - -
?/? c.223C>T r.(?) p.(Arg75*) g.46724370C>T Copied from the Exome Variant Server RAD54L_000021 2/13004 0/8598 2/4406 - - - - - - -
?/? c.271+20G>A r.(=) p.(=) g.46724438G>A Copied from the Exome Variant Server RAD54L_000022 2/13004 1/8598 1/4406 - - - - - - -
?/? c.271+44G>A r.(=) p.(=) g.46724462G>A Copied from the Exome Variant Server RAD54L_000023 30/13004 0/8598 30/4406 - - - - - - -
?/? c.272-21G>A r.(=) p.(=) g.46725615G>A Copied from the Exome Variant Server RAD54L_000024 64/13006 0/8600 64/4406 - - - - - - -
?/? c.272-12A>C r.(=) p.(=) g.46725624A>C Copied from the Exome Variant Server RAD54L_000025 2/13006 1/8600 1/4406 - - - - - - -
?/? c.272-9G>C r.(=) p.(=) g.46725627G>C Copied from the Exome Variant Server RAD54L_000026 1/13006 0/8600 1/4406 - - - - - - -
?/? c.302A>G r.(?) p.(Lys101Arg) g.46725666A>G Copied from the Exome Variant Server RAD54L_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.316C>T r.(?) p.(Arg106Cys) g.46725680C>T Copied from the Exome Variant Server RAD54L_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.317G>A r.(?) p.(Arg106His) g.46725681G>A Copied from the Exome Variant Server RAD54L_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.319C>T r.(?) p.(Arg107Trp) g.46725683C>T Copied from the Exome Variant Server RAD54L_000033 2/13006 2/8600 0/4406 - - - - - - -
?/? c.336C>G r.(=) p.(=) g.46725700C>G Copied from the Exome Variant Server RAD54L_000035 1/13006 0/8600 1/4406 - - - - - - -
?/? c.374C>T r.(?) p.(Pro125Leu) g.46725738C>T Copied from the Exome Variant Server RAD54L_000037 3/13006 3/8600 0/4406 - - - - - - -
?/? c.408-59C>T r.(=) p.(=) g.46726155C>T Copied from the Exome Variant Server RAD54L_000039 17/4566 0/3182 17/1384 - - - - - - -
?/? c.408-28C>T r.(=) p.(=) g.46726186C>T Copied from the Exome Variant Server RAD54L_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.429G>T r.(=) p.(=) g.46726235G>T Copied from the Exome Variant Server RAD54L_000043 4/13006 1/8600 3/4406 - - - - - - -
?/? c.460C>T r.(?) p.(Arg154Trp) g.46726266C>T Copied from the Exome Variant Server RAD54L_000045 2/13006 0/8600 2/4406 - - - - - - -
?/? c.461G>A r.(?) p.(Arg154Gln) g.46726267G>A Copied from the Exome Variant Server RAD54L_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.462G>A r.(=) p.(=) g.46726268G>A Copied from the Exome Variant Server RAD54L_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.473G>C r.(?) p.(Arg158Thr) g.46726279G>C Copied from the Exome Variant Server RAD54L_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.477+25G>T r.(=) p.(=) g.46726308G>T Copied from the Exome Variant Server RAD54L_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.478-38G>A r.(=) p.(=) g.46726361G>A Copied from the Exome Variant Server RAD54L_000030 3/13006 3/8600 0/4406 - - - - - - -
?/? c.478-6C>T r.(=) p.(=) g.46726393C>T Copied from the Exome Variant Server RAD54L_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.512G>A r.(?) p.(Arg171Gln) g.46726433G>A Copied from the Exome Variant Server RAD54L_000034 4/13006 0/8600 4/4406 - - - - - - -
?/? c.514C>T r.(?) p.(Arg172Cys) g.46726435C>T Copied from the Exome Variant Server RAD54L_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.515G>A r.(?) p.(Arg172His) g.46726436G>A Copied from the Exome Variant Server RAD54L_000038 3/13006 0/8600 3/4406 - - - - - - -
?/? c.569C>T r.(?) p.(Thr190Met) g.46726490C>T Copied from the Exome Variant Server RAD54L_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.579C>T r.(=) p.(=) g.46726500C>T Copied from the Exome Variant Server RAD54L_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.604C>T r.(?) p.(Arg202Cys) g.46726525C>T Copied from the Exome Variant Server RAD54L_000044 39/13006 37/8600 2/4406 - - - - - - -
?/? c.653C>T r.(?) p.(Ser218Leu) g.46726574C>T Copied from the Exome Variant Server RAD54L_000046 1/13006 0/8600 1/4406 - - - - - - -
?/? c.657T>C r.(=) p.(=) g.46726578T>C Copied from the Exome Variant Server RAD54L_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.723G>A r.(=) p.(=) g.46726644G>A Copied from the Exome Variant Server RAD54L_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.729C>T r.(=) p.(=) g.46726650C>T Copied from the Exome Variant Server RAD54L_000052 1/13006 0/8600 1/4406 - - - - - - -
?/? c.744G>A r.(=) p.(=) g.46726665G>A Copied from the Exome Variant Server RAD54L_000054 3/13006 0/8600 3/4406 - - - - - - -
?/? c.766+4C>A r.spl? p.? g.46726691C>A Copied from the Exome Variant Server RAD54L_000056 2/13006 0/8600 2/4406 - - - - - - -
?/? c.767-50T>G r.(=) p.(=) g.46726883T>G Copied from the Exome Variant Server RAD54L_000058 13/13000 0/8598 13/4402 - - - - - - -
?/? c.767-44T>C r.(=) p.(=) g.46726889T>C Copied from the Exome Variant Server RAD54L_000060 8/13004 6/8598 2/4406 - - - - - - -
?/? c.767-2A>G r.spl? p.? g.46726931A>G Copied from the Exome Variant Server RAD54L_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.767A>T r.(?) p.(Glu256Val) g.46726933A>T Copied from the Exome Variant Server RAD54L_000064 5/13006 0/8600 5/4406 - - - - - - -
?/? c.785G>T r.(?) p.(Arg262Leu) g.46726951G>T Copied from the Exome Variant Server RAD54L_000066 2/13006 2/8600 0/4406 - - - - - - -
?/? c.796G>C r.(?) p.(Val266Leu) g.46726962G>C Copied from the Exome Variant Server RAD54L_000068 2/13006 1/8600 1/4406 - - - - - - -
?/? c.807C>T r.(=) p.(=) g.46726973C>T Copied from the Exome Variant Server RAD54L_000070 1/13006 0/8600 1/4406 - - - - - - -
?/? c.866G>A r.(?) p.(Ser289Asn) g.46727032G>A Copied from the Exome Variant Server RAD54L_000072 1/13006 0/8600 1/4406 - - - - - - -
?/? c.883T>C r.(?) p.(Cys295Arg) g.46727049T>C Copied from the Exome Variant Server RAD54L_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.888C>T r.(=) p.(=) g.46727054C>T Copied from the Exome Variant Server RAD54L_000076 3/13006 3/8600 0/4406 - - - - - - -
?/? c.891+46A>G r.(=) p.(=) g.46727103A>G Copied from the Exome Variant Server RAD54L_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.892-47C>T r.(=) p.(=) g.46733084C>T Copied from the Exome Variant Server RAD54L_000055 3/13006 3/8600 0/4406 - - - - - - -
?/? c.892-44A>G r.(=) p.(=) g.46733087A>G Copied from the Exome Variant Server RAD54L_000057 3/13006 0/8600 3/4406 - - - - - - -
?/? c.892-26C>T r.(=) p.(=) g.46733105C>T Copied from the Exome Variant Server RAD54L_000059 223/13006 9/8600 214/4406 - - - - - - -
?/? c.894A>G r.(=) p.(=) g.46733133A>G Copied from the Exome Variant Server RAD54L_000061 108/13006 4/8600 104/4406 - - - - - - -
?/? c.945G>T r.(?) p.(Leu315Phe) g.46733184G>T Copied from the Exome Variant Server RAD54L_000063 1/13006 0/8600 1/4406 - - - - - - -
?/? c.955C>T r.(?) p.(Arg319Trp) g.46733194C>T Copied from the Exome Variant Server RAD54L_000065 1/13006 0/8600 1/4406 - - - - - - -
?/? c.972C>T r.(=) p.(=) g.46733211C>T Copied from the Exome Variant Server RAD54L_000067 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1019A>G r.(?) p.(His340Arg) g.46733258A>G Copied from the Exome Variant Server RAD54L_000069 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1032C>T r.(=) p.(=) g.46733271C>T Copied from the Exome Variant Server RAD54L_000071 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1043-31T>A r.(=) p.(=) g.46736300T>A Copied from the Exome Variant Server RAD54L_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1043-25T>C r.(=) p.(=) g.46736306T>C Copied from the Exome Variant Server RAD54L_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1051C>T r.(?) p.(His351Tyr) g.46736339C>T Copied from the Exome Variant Server RAD54L_000077 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1094G>A r.(?) p.(Arg365Gln) g.46736382G>A Copied from the Exome Variant Server RAD54L_000078 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1099del r.(?) p.(Ala367Leufs*10) g.46736387del Copied from the Exome Variant Server RAD54L_000079 1/12520 1/8254 0/4266 - - - - - - -
?/? c.1138C>T r.(?) p.(Arg380Trp) g.46736426C>T Copied from the Exome Variant Server RAD54L_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1139G>A r.(?) p.(Arg380Gln) g.46736427G>A Copied from the Exome Variant Server RAD54L_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1169+15C>T r.(=) p.(=) g.46736472C>T Copied from the Exome Variant Server RAD54L_000085 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1169+35del r.(=) p.(=) g.46736492del Copied from the Exome Variant Server RAD54L_000087 1/12516 1/8250 0/4266 - - - - - - -
?/? c.1170-34C>T r.(=) p.(=) g.46738104C>T Copied from the Exome Variant Server RAD54L_000089 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1244+28G>A r.(=) p.(=) g.46738240G>A Copied from the Exome Variant Server RAD54L_000091 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1245-38G>A r.(=) p.(=) g.46738306G>A Copied from the Exome Variant Server RAD54L_000093 63/13006 0/8600 63/4406 - - - - - - -
?/? c.1245-37G>T r.(=) p.(=) g.46738307G>T Copied from the Exome Variant Server RAD54L_000095 62/13006 0/8600 62/4406 - - - - - - -
?/? c.1245-20G>A r.(=) p.(=) g.46738324G>A Copied from the Exome Variant Server RAD54L_000098 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1278G>A r.(=) p.(=) g.46738377G>A Copied from the Exome Variant Server RAD54L_000100 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1298C>T r.(?) p.(Pro433Leu) g.46738397C>T Copied from the Exome Variant Server RAD54L_000080 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1363A>C r.(?) p.(Lys455Gln) g.46738462A>C Copied from the Exome Variant Server RAD54L_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1375+32T>C r.(=) p.(=) g.46738506T>C Copied from the Exome Variant Server RAD54L_000084 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1376-41C>A r.(=) p.(=) g.46738986C>A Copied from the Exome Variant Server RAD54L_000086 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1398G>A r.(=) p.(=) g.46739049G>A Copied from the Exome Variant Server RAD54L_000088 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1416T>A r.(?) p.(Asp472Glu) g.46739067T>A Copied from the Exome Variant Server RAD54L_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1448C>G r.(?) p.(Pro483Arg) g.46739099C>G Copied from the Exome Variant Server RAD54L_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1460C>T r.(?) p.(Ser487Phe) g.46739111C>T Copied from the Exome Variant Server RAD54L_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1486+52del r.(=) p.(=) g.46739189del Copied from the Exome Variant Server RAD54L_000097 30/12520 20/8254 10/4266 - - - - - - -
?/? c.1486+52dup r.(=) p.(=) g.46739189dup Copied from the Exome Variant Server RAD54L_000096 51/12520 40/8254 11/4266 - - - - - - -
?/? c.1487-43T>C r.(=) p.(=) g.46739253T>C Copied from the Exome Variant Server RAD54L_000099 3/13006 0/8600 3/4406 - - - - - - -
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