Full data view for gene ERCC6L

Information The variants shown are described using the NM_017669.2 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
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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.-44G>A r.(=) p.(=) g.71458805C>T Copied from the Exome Variant Server ERCC6L_000084 1081/10430 246/6641 835/3789 - - - - - - -
?/? c.-40C>T r.(=) p.(=) g.71458801G>A Copied from the Exome Variant Server ERCC6L_000083 1/10452 1/6655 0/3797 - - - - - - -
?/? c.-44_-38del r.(=) p.(=) g.71458799_71458805del Copied from the Exome Variant Server ERCC6L_000082 43/9668 9/6122 34/3546 - - - - - - -
?/? c.-33_-32insAAACTCC r.(=) p.(=) g.71458793_71458794insGGAGTTT Copied from the Exome Variant Server ERCC6L_000081 951/10047 327/6374 624/3673 - - - - - - -
?/? c.-20T>G r.(=) p.(=) g.71458781A>C Copied from the Exome Variant Server ERCC6L_000080 2/10541 0/6715 2/3826 - - - - - - -
?/? c.39G>A r.(=) p.(=) g.71458723C>T Copied from the Exome Variant Server ERCC6L_000079 3/10557 0/6725 3/3832 - - - - - - -
?/? c.68+5G>A r.spl? p.? g.71458689C>T Copied from the Exome Variant Server ERCC6L_000078 1/10539 0/6711 1/3828 - - - - - - -
?/? c.69-7_69-6insT r.(=) p.(=) g.71428554_71428555insA Copied from the Exome Variant Server ERCC6L_000077 117/10166 78/6466 39/3700 - - - - - - -
?/? c.159T>A r.(?) p.(Asn53Lys) g.71428458A>T Copied from the Exome Variant Server ERCC6L_000076 1/10563 1/6728 0/3835 - - - - - - -
?/? c.204G>A r.(=) p.(=) g.71428413C>T Copied from the Exome Variant Server ERCC6L_000075 1/10563 0/6728 1/3835 - - - - - - -
?/? c.208T>G r.(?) p.(Leu70Val) g.71428409A>C Copied from the Exome Variant Server ERCC6L_000074 4/10563 4/6728 0/3835 - - - - - - -
?/? c.214G>A r.(?) p.(Glu72Lys) g.71428403C>T Copied from the Exome Variant Server ERCC6L_000073 2/10563 0/6728 2/3835 - - - - - - -
?/? c.266A>G r.(?) p.(Tyr89Cys) g.71428351T>C Copied from the Exome Variant Server ERCC6L_000072 1/10563 0/6728 1/3835 - - - - - - -
?/? c.269G>A r.(?) p.(Arg90Gln) g.71428348C>T Copied from the Exome Variant Server ERCC6L_000071 39/10563 2/6728 37/3835 - - - - - - -
?/? c.358T>C r.(=) p.(=) g.71428259A>G Copied from the Exome Variant Server ERCC6L_000070 1/10563 1/6728 0/3835 - - - - - - -
?/? c.411C>T r.(=) p.(=) g.71428206G>A Copied from the Exome Variant Server ERCC6L_000069 2/10563 2/6728 0/3835 - - - - - - -
?/? c.412G>A r.(?) p.(Gly138Ser) g.71428205C>T Copied from the Exome Variant Server ERCC6L_000068 4/10563 2/6728 2/3835 - - - - - - -
?/? c.428C>T r.(?) p.(Ser143Leu) g.71428189G>A Copied from the Exome Variant Server ERCC6L_000067 1/10563 0/6728 1/3835 - - - - - - -
?/? c.498G>A r.(=) p.(=) g.71428119C>T Copied from the Exome Variant Server ERCC6L_000066 285/10563 3/6728 282/3835 - - - - - - -
?/? c.561C>T r.(=) p.(=) g.71428056G>A Copied from the Exome Variant Server ERCC6L_000065 1/10563 0/6728 1/3835 - - - - - - -
?/? c.566A>G r.(?) p.(Asn189Ser) g.71428051T>C Copied from the Exome Variant Server ERCC6L_000063 218/10563 1/6728 217/3835 - - - - - - -
?/? c.684T>A r.(?) p.(Asp228Glu) g.71427933A>T Copied from the Exome Variant Server ERCC6L_000061 2/10563 0/6728 2/3835 - - - - - - -
?/? c.734G>A r.(?) p.(Arg245His) g.71427883C>T Copied from the Exome Variant Server ERCC6L_000059 1/10563 0/6728 1/3835 - - - - - - -
?/? c.778A>G r.(?) p.(Ile260Val) g.71427839T>C Copied from the Exome Variant Server ERCC6L_000057 1/10563 1/6728 0/3835 - - - - - - -
?/? c.801A>G r.(=) p.(=) g.71427816T>C Copied from the Exome Variant Server ERCC6L_000055 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1027G>C r.(?) p.(Ala343Pro) g.71427590C>G Copied from the Exome Variant Server ERCC6L_000053 1/10556 1/6725 0/3831 - - - - - - -
?/? c.1037A>T r.(?) p.(Asn346Ile) g.71427580T>A Copied from the Exome Variant Server ERCC6L_000051 1/10546 1/6721 0/3825 - - - - - - -
?/? c.1192C>T r.(?) p.(Arg398Cys) g.71427425G>A Copied from the Exome Variant Server ERCC6L_000064 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1193G>A r.(?) p.(Arg398His) g.71427424C>T Copied from the Exome Variant Server ERCC6L_000062 4/10563 4/6728 0/3835 - - - - - - -
?/? c.1361C>G r.(?) p.(Thr454Arg) g.71427256G>C Copied from the Exome Variant Server ERCC6L_000060 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1389A>C r.(=) p.(=) g.71427228T>G Copied from the Exome Variant Server ERCC6L_000058 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1494T>C r.(=) p.(=) g.71427123A>G Copied from the Exome Variant Server ERCC6L_000056 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1537C>T r.(?) p.(Leu513Phe) g.71427080G>A Copied from the Exome Variant Server ERCC6L_000054 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1561A>C r.(?) p.(Asn521His) g.71427056T>G Copied from the Exome Variant Server ERCC6L_000052 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1575A>G r.(=) p.(=) g.71427042T>C Copied from the Exome Variant Server ERCC6L_000050 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1590T>C r.(=) p.(=) g.71427027A>G Copied from the Exome Variant Server ERCC6L_000049 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1692T>C r.(=) p.(=) g.71426925A>G Copied from the Exome Variant Server ERCC6L_000048 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1697C>T r.(?) p.(Ala566Val) g.71426920G>A Copied from the Exome Variant Server ERCC6L_000047 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1881C>A r.(=) p.(=) g.71426736G>T Copied from the Exome Variant Server ERCC6L_000046 123/10563 0/6728 123/3835 - - - - - - -
?/? c.1886C>T r.(?) p.(Thr629Ile) g.71426731G>A Copied from the Exome Variant Server ERCC6L_000045 4/10563 0/6728 4/3835 - - - - - - -
?/? c.1891G>C r.(?) p.(Glu631Gln) g.71426726C>G Copied from the Exome Variant Server ERCC6L_000044 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2011A>C r.(?) p.(Ile671Leu) g.71426606T>G Copied from the Exome Variant Server ERCC6L_000043 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2258A>G r.(?) p.(Gln753Arg) g.71426359T>C Copied from the Exome Variant Server ERCC6L_000042 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2276G>A r.(?) p.(Ser759Asn) g.71426341C>T Copied from the Exome Variant Server ERCC6L_000041 350/10563 306/6728 44/3835 - - - - - - -
?/? c.2288C>T r.(?) p.(Thr763Ile) g.71426329G>A Copied from the Exome Variant Server ERCC6L_000040 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2330T>C r.(?) p.(Ile777Thr) g.71426287A>G Copied from the Exome Variant Server ERCC6L_000039 2/10563 2/6728 0/3835 - - - - - - -
?/? c.2341C>T r.(?) p.(Pro781Ser) g.71426276G>A Copied from the Exome Variant Server ERCC6L_000037 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2479A>G r.(?) p.(Asn827Asp) g.71426138T>C Copied from the Exome Variant Server ERCC6L_000035 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2519A>G r.(?) p.(Asn840Ser) g.71426098T>C Copied from the Exome Variant Server ERCC6L_000033 11/10563 0/6728 11/3835 - - - - - - -
?/? c.2536G>C r.(?) p.(Glu846Gln) g.71426081C>G Copied from the Exome Variant Server ERCC6L_000031 2/10563 0/6728 2/3835 - - - - - - -
?/? c.2541A>G r.(=) p.(=) g.71426076T>C Copied from the Exome Variant Server ERCC6L_000029 2/10563 0/6728 2/3835 - - - - - - -
?/? c.2584C>T r.(=) p.(=) g.71426033G>A Copied from the Exome Variant Server ERCC6L_000027 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2598T>C r.(=) p.(=) g.71426019A>G Copied from the Exome Variant Server ERCC6L_000038 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2601T>C r.(=) p.(=) g.71426016A>G Copied from the Exome Variant Server ERCC6L_000036 2/10563 1/6728 1/3835 - - - - - - -
?/? c.2672G>A r.(?) p.(Arg891His) g.71425945C>T Copied from the Exome Variant Server ERCC6L_000034 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2688G>T r.(?) p.(Trp896Cys) g.71425929C>A Copied from the Exome Variant Server ERCC6L_000032 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2888A>G r.(?) p.(Asn963Ser) g.71425729T>C Copied from the Exome Variant Server ERCC6L_000030 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2965A>G r.(?) p.(Arg989Gly) g.71425652T>C Copied from the Exome Variant Server ERCC6L_000028 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2997C>T r.(=) p.(=) g.71425620G>A Copied from the Exome Variant Server ERCC6L_000026 1/10563 0/6728 1/3835 - - - - - - -
?/? c.3034G>A r.(?) p.(Glu1012Lys) g.71425583C>T Copied from the Exome Variant Server ERCC6L_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3035_3037del r.(?) p.(Glu1012del) g.71425580_71425582del Copied from the Exome Variant Server ERCC6L_000024 2/10205 2/6484 0/3721 - - - - - - -
?/? c.3039A>G r.(=) p.(=) g.71425578T>C Copied from the Exome Variant Server ERCC6L_000023 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3090C>T r.(=) p.(=) g.71425527G>A Copied from the Exome Variant Server ERCC6L_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.3156A>G r.(=) p.(=) g.71425461T>C Copied from the Exome Variant Server ERCC6L_000021 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3219G>T r.(?) p.(Arg1073Ser) g.71425398C>A Copied from the Exome Variant Server ERCC6L_000020 1/10563 0/6728 1/3835 - - - - - - -
?/? c.3346_3348del r.(?) p.(Asp1116del) g.71425269_71425271del Copied from the Exome Variant Server ERCC6L_000019 5/10205 2/6484 3/3721 - - - - - - -
?/? c.3350G>T r.(?) p.(Ser1117Ile) g.71425267C>A Copied from the Exome Variant Server ERCC6L_000018 1/10563 0/6728 1/3835 - - - - - - -
?/? c.3382G>A r.(?) p.(Glu1128Lys) g.71425235C>T Copied from the Exome Variant Server ERCC6L_000017 166/10563 148/6728 18/3835 - - - - - - -
?/? c.3391G>A r.(?) p.(Val1131Met) g.71425226C>T Copied from the Exome Variant Server ERCC6L_000016 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3393G>A r.(=) p.(=) g.71425224C>T Copied from the Exome Variant Server ERCC6L_000015 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3408C>T r.(=) p.(=) g.71425209G>A Copied from the Exome Variant Server ERCC6L_000014 5/10563 4/6728 1/3835 - - - - - - -
?/? c.3430G>A r.(?) p.(Glu1144Lys) g.71425187C>T Copied from the Exome Variant Server ERCC6L_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3441C>T r.(=) p.(=) g.71425176G>A Copied from the Exome Variant Server ERCC6L_000012 3/10563 3/6728 0/3835 - - - - - - -
?/? c.3442G>A r.(?) p.(Gly1148Arg) g.71425175C>T Copied from the Exome Variant Server ERCC6L_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3475T>C r.(?) p.(Trp1159Arg) g.71425142A>G Copied from the Exome Variant Server ERCC6L_000010 1/10563 0/6728 1/3835 - - - - - - -
?/? c.3486G>A r.(=) p.(=) g.71425131C>T Copied from the Exome Variant Server ERCC6L_000009 1/10563 0/6728 1/3835 - - - - - - -
?/? c.3552G>A r.(=) p.(=) g.71425065C>T Copied from the Exome Variant Server ERCC6L_000008 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3600T>C r.(=) p.(=) g.71425017A>G Copied from the Exome Variant Server ERCC6L_000007 3/10563 3/6728 0/3835 - - - - - - -
?/? c.3617G>A r.(?) p.(Arg1206His) g.71425000C>T Copied from the Exome Variant Server ERCC6L_000006 8/10563 0/6728 8/3835 - - - - - - -
?/? c.3627A>G r.(=) p.(=) g.71424990T>C Copied from the Exome Variant Server ERCC6L_000005 1/10563 0/6728 1/3835 - - - - - - -
?/? c.3677C>T r.(?) p.(Ala1226Val) g.71424940G>A Copied from the Exome Variant Server ERCC6L_000004 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*3A>G r.(=) p.(=) g.71424861T>C Copied from the Exome Variant Server ERCC6L_000003 378/10562 39/6727 339/3835 - - - - - - -
?/? c.*9C>T r.(=) p.(=) g.71424855G>A Copied from the Exome Variant Server ERCC6L_000002 1/10560 1/6725 0/3835 - - - - - - -
?/? c.*31G>A r.(=) p.(=) g.71424833C>T Copied from the Exome Variant Server ERCC6L_000001 1/10551 1/6722 0/3829 - - - - - - -
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