Full data view for gene ELANE

Information The variants shown are described using the NM_001972.2 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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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.39C>G r.(=) p.(=) g.852367C>G Copied from the Exome Variant Server ELANE_000001 1/13004 1/8600 0/4404 - - - - - - -
?/? c.67+23C>G r.(=) p.(=) g.852418C>G Copied from the Exome Variant Server ELANE_000002 1/13000 1/8600 0/4400 - - - - - - -
?/? c.68-15C>A r.(=) p.(=) g.852861C>A Copied from the Exome Variant Server ELANE_000003 3/12136 0/8038 3/4098 - - - - - - -
?/? c.68-13G>A r.(=) p.(=) g.852863G>A Copied from the Exome Variant Server ELANE_000004 3/12228 3/8096 0/4132 - - - - - - -
?/? c.68-5C>T r.spl? p.? g.852871C>T Copied from the Exome Variant Server ELANE_000005 1/12298 0/8152 1/4146 - - - - - - -
?/? c.70A>C r.(?) p.(Thr24Pro) g.852878A>C Copied from the Exome Variant Server ELANE_000006 1/12346 0/8184 1/4162 - - - - - - -
?/? c.99C>T r.(=) p.(=) g.852907C>T Copied from the Exome Variant Server ELANE_000007 53/12310 1/8156 52/4154 - - - - - - -
?/? c.104G>A r.(?) p.(Arg35Gln) g.852912G>A Copied from the Exome Variant Server ELANE_000008 1/12420 0/8226 1/4194 - - - - - - -
?/? c.171C>T r.(=) p.(=) g.852979C>T Copied from the Exome Variant Server ELANE_000009 5/12622 0/8348 5/4274 - - - - - - -
?/? c.174C>T r.(=) p.(=) g.852982C>T Copied from the Exome Variant Server ELANE_000010 1/12610 1/8340 0/4270 - - - - - - -
?/? c.259C>T r.(?) p.(His87Tyr) g.853296C>T Copied from the Exome Variant Server ELANE_000011 1/12918 0/8546 1/4372 - - - - - - -
?/? c.297C>G r.(?) p.(Phe99Leu) g.853334C>G Copied from the Exome Variant Server ELANE_000012 1/12934 0/8560 1/4374 - - - - - - -
?/? c.334G>A r.(?) p.(Val112Ile) g.853371G>A Copied from the Exome Variant Server ELANE_000013 1/12876 1/8522 0/4354 - - - - - - -
?/? c.366+9G>A r.(=) p.(=) g.853412G>A Copied from the Exome Variant Server ELANE_000014 2/12302 2/8118 0/4184 - - - - - - -
?/? c.366+12C>A r.(=) p.(=) g.853415C>A Copied from the Exome Variant Server ELANE_000015 3/12234 0/8084 3/4150 - - - - - - -
?/? c.367-30C>T r.(=) p.(=) g.855534C>T Copied from the Exome Variant Server ELANE_000016 2/12906 2/8540 0/4366 - - - - - - -
?/? c.367-7G>A r.(=) p.(=) g.855557G>A Copied from the Exome Variant Server ELANE_000017 1/12974 1/8580 0/4394 - - - - - - -
?/? c.373G>A r.(?) p.(Gly125Arg) g.855570G>A Copied from the Exome Variant Server ELANE_000018 1/12988 1/8586 0/4402 - - - - - - -
?/? c.378G>A r.(=) p.(=) g.855575G>A Copied from the Exome Variant Server ELANE_000019 2/12988 2/8586 0/4402 - - - - - - -
?/? c.390C>T r.(=) p.(=) g.855587C>T Copied from the Exome Variant Server ELANE_000020 410/12978 92/8580 318/4398 - - - - - - -
?/? c.396C>T r.(=) p.(=) g.855593C>T Copied from the Exome Variant Server ELANE_000021 1/12986 0/8586 1/4400 - - - - - - -
?/? c.407C>T r.(?) p.(Ala136Val) g.855604C>T Copied from the Exome Variant Server ELANE_000022 1/12990 0/8590 1/4400 - - - - - - -
?/? c.417G>A r.(=) p.(=) g.855614G>A Copied from the Exome Variant Server ELANE_000023 2/12986 0/8588 2/4398 - - - - - - -
?/? c.428G>A r.(?) p.(Arg143His) g.855625G>A Copied from the Exome Variant Server ELANE_000024 2/12992 1/8588 1/4404 - - - - - - -
?/? c.430C>T r.(?) p.(Arg144Cys) g.855627C>T Copied from the Exome Variant Server ELANE_000025 1/12994 0/8588 1/4406 - - - - - - -
?/? c.431G>A r.(?) p.(Arg144His) g.855628G>A Copied from the Exome Variant Server ELANE_000026 3/13000 0/8594 3/4406 - - - - - - -
?/? c.441C>T r.(=) p.(=) g.855638C>T Copied from the Exome Variant Server ELANE_000027 2/13000 1/8594 1/4406 - - - - - - -
?/? c.456G>A r.(=) p.(=) g.855653G>A Copied from the Exome Variant Server ELANE_000028 1/13000 1/8594 0/4406 - - - - - - -
?/? c.525G>A r.(=) p.(=) g.855722G>A Copied from the Exome Variant Server ELANE_000029 1/13002 0/8596 1/4406 - - - - - - -
?/? c.556G>A r.(?) p.(Val186Ile) g.855753G>A Copied from the Exome Variant Server ELANE_000030 1/12998 1/8594 0/4404 - - - - - - -
?/? c.568G>A r.(?) p.(Val190Met) g.855765G>A Copied from the Exome Variant Server ELANE_000031 3/13000 3/8594 0/4406 - - - - - - -
?/? c.597+10C>G r.(=) p.(=) g.855804C>G Copied from the Exome Variant Server ELANE_000032 7/12990 6/8590 1/4400 - - - - - - -
?/? c.597+14G>A r.(=) p.(=) g.855808G>A Copied from the Exome Variant Server ELANE_000033 1/12992 1/8590 0/4402 - - - - - - -
?/? c.597+28C>T r.(=) p.(=) g.855822C>T Copied from the Exome Variant Server ELANE_000034 1/12976 0/8576 1/4400 - - - - - - -
?/? c.598-34C>A r.(=) p.(=) g.855924C>A Copied from the Exome Variant Server ELANE_000035 1/13000 0/8598 1/4402 - - - - - - -
?/? c.600G>A r.(=) p.(=) g.855960G>A Copied from the Exome Variant Server ELANE_000036 1/13004 1/8598 0/4406 - - - - - - -
?/? c.606C>A r.(=) p.(=) g.855966C>A Copied from the Exome Variant Server ELANE_000037 1709/13004 1548/8598 161/4406 - - - - - - -
?/? c.627C>T r.(=) p.(=) g.855987C>T Copied from the Exome Variant Server ELANE_000038 1/13004 1/8598 0/4406 - - - - - - -
?/? c.628G>A r.(?) p.(Gly210Arg) g.855988G>A Copied from the Exome Variant Server ELANE_000039 3/13006 0/8600 3/4406 - - - - - - -
?/? c.654C>T r.(=) p.(=) g.856014C>T Copied from the Exome Variant Server ELANE_000040 2/13006 2/8600 0/4406 - - - - - - -
?/? c.655G>A r.(?) p.(Val219Ile) g.856015G>A Copied from the Exome Variant Server ELANE_000041 107/13006 0/8600 107/4406 - - - - - - -
?/? c.770C>T r.(?) p.(Pro257Leu) g.856130C>T Copied from the Exome Variant Server ELANE_000042 100/13004 93/8598 7/4406 - - - - - - -
?/? c.773G>A r.(?) p.(Arg258Gln) g.856133G>A Copied from the Exome Variant Server ELANE_000043 1/13002 1/8596 0/4406 - - - - - - -
?/? c.778C>A r.(?) p.(Pro260Thr) g.856138C>A Copied from the Exome Variant Server ELANE_000044 7/13002 1/8596 6/4406 - - - - - - -
?/? c.779C>G r.(?) p.(Pro260Arg) g.856139C>G Copied from the Exome Variant Server ELANE_000045 1/13002 1/8596 0/4406 - - - - - - -
?/? c.784C>T r.(?) p.(Pro262Ser) g.856144C>T Copied from the Exome Variant Server ELANE_000046 12/13002 0/8596 12/4406 - - - - - - -
?/? c.785C>T r.(?) p.(Pro262Leu) g.856145C>T Copied from the Exome Variant Server ELANE_000047 52/13002 0/8596 52/4406 - - - - - - -
?/? c.*9G>A r.(=) p.(=) g.856173G>A Copied from the Exome Variant Server ELANE_000048 2/12996 0/8594 2/4402 - - - - - - -
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