Full data view for gene ABHD16B

Information The variants shown are described using the NM_080622.3 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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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>T r.(=) p.(=) g.62492855C>T Copied from the Exome Variant Server ABHD16B_000001 4/12446 4/8228 0/4218 - - - - - - -
?/? c.-33C>G r.(=) p.(=) g.62492861C>G Copied from the Exome Variant Server ABHD16B_000002 3/12522 0/8280 3/4242 - - - - - - -
?/? c.-25C>T r.(=) p.(=) g.62492869C>T Copied from the Exome Variant Server ABHD16B_000003 2/12602 1/8318 1/4284 - - - - - - -
?/? c.-16G>A r.(=) p.(=) g.62492878G>A Copied from the Exome Variant Server ABHD16B_000004 1/12710 1/8386 0/4324 - - - - - - -
?/? c.19G>A r.(?) p.(Val7Met) g.62492912G>A Copied from the Exome Variant Server ABHD16B_000005 8/12922 3/8538 5/4384 - - - - - - -
?/? c.28C>T r.(=) p.(=) g.62492921C>T Copied from the Exome Variant Server ABHD16B_000006 3/12932 0/8550 3/4382 - - - - - - -
?/? c.29T>A r.(?) p.(Leu10Gln) g.62492922T>A Copied from the Exome Variant Server ABHD16B_000007 671/12932 598/8550 73/4382 - - - - - - -
?/? c.31G>A r.(?) p.(Val11Met) g.62492924G>A Copied from the Exome Variant Server ABHD16B_000008 1/12932 1/8548 0/4384 - - - - - - -
?/? c.34C>T r.(?) p.(Arg12Cys) g.62492927C>T Copied from the Exome Variant Server ABHD16B_000009 1/12934 0/8554 1/4380 - - - - - - -
?/? c.91G>A r.(?) p.(Val31Met) g.62492984G>A Copied from the Exome Variant Server ABHD16B_000010 2/12772 0/8466 2/4306 - - - - - - -
?/? c.331G>A r.(?) p.(Val111Met) g.62493224G>A Copied from the Exome Variant Server ABHD16B_000011 5/10204 0/6836 5/3368 - - - - - - -
?/? c.345C>T r.(=) p.(=) g.62493238C>T Copied from the Exome Variant Server ABHD16B_000012 4/10840 4/7254 0/3586 - - - - - - -
?/? c.356T>A r.(?) p.(Met119Lys) g.62493249T>A Copied from the Exome Variant Server ABHD16B_000013 2/11130 0/7430 2/3700 - - - - - - -
?/? c.389G>T r.(?) p.(Gly130Val) g.62493282G>T Copied from the Exome Variant Server ABHD16B_000014 1/12332 1/8178 0/4154 - - - - - - -
?/? c.424C>T r.(?) p.(Arg142Cys) g.62493317C>T Copied from the Exome Variant Server ABHD16B_000015 2/12822 1/8484 1/4338 - - - - - - -
?/? c.460G>A r.(?) p.(Asp154Asn) g.62493353G>A Copied from the Exome Variant Server ABHD16B_000016 2/12978 1/8586 1/4392 - - - - - - -
?/? c.478C>T r.(?) p.(Arg160Cys) g.62493371C>T Copied from the Exome Variant Server ABHD16B_000017 186/12986 1/8590 185/4396 - - - - - - -
?/? c.491C>T r.(?) p.(Pro164Leu) g.62493384C>T Copied from the Exome Variant Server ABHD16B_000018 101/12990 17/8596 84/4394 - - - - - - -
?/? c.515G>A r.(?) p.(Arg172His) g.62493408G>A Copied from the Exome Variant Server ABHD16B_000019 2/13000 0/8598 2/4402 - - - - - - -
?/? c.637G>A r.(?) p.(Val213Met) g.62493530G>A Copied from the Exome Variant Server ABHD16B_000020 8/12996 0/8596 8/4400 - - - - - - -
?/? c.672C>T r.(=) p.(=) g.62493565C>T Copied from the Exome Variant Server ABHD16B_000021 1/13000 0/8598 1/4402 - - - - - - -
?/? c.682G>A r.(?) p.(Glu228Lys) g.62493575G>A Copied from the Exome Variant Server ABHD16B_000022 11/13000 1/8598 10/4402 - - - - - - -
?/? c.696C>G r.(?) p.(His232Gln) g.62493589C>G Copied from the Exome Variant Server ABHD16B_000023 2/13000 2/8598 0/4402 - - - - - - -
?/? c.697C>T r.(?) p.(Arg233Cys) g.62493590C>T Copied from the Exome Variant Server ABHD16B_000024 1/12998 0/8596 1/4402 - - - - - - -
?/? c.703C>T r.(?) p.(His235Tyr) g.62493596C>T Copied from the Exome Variant Server ABHD16B_000025 1/13000 1/8596 0/4404 - - - - - - -
?/? c.749G>A r.(?) p.(Gly250Asp) g.62493642G>A Copied from the Exome Variant Server ABHD16B_000026 1/12990 1/8590 0/4400 - - - - - - -
?/? c.756G>A r.(=) p.(=) g.62493649G>A Copied from the Exome Variant Server ABHD16B_000027 1/12996 1/8596 0/4400 - - - - - - -
?/? c.758C>G r.(?) p.(Ala253Gly) g.62493651C>G Copied from the Exome Variant Server ABHD16B_000028 1/12998 0/8596 1/4402 - - - - - - -
?/? c.817G>A r.(?) p.(Asp273Asn) g.62493710G>A Copied from the Exome Variant Server ABHD16B_000029 1/12998 1/8600 0/4398 - - - - - - -
?/? c.844G>C r.(?) p.(Val282Leu) g.62493737G>C Copied from the Exome Variant Server ABHD16B_000030 2/12992 1/8592 1/4400 - - - - - - -
?/? c.878G>A r.(?) p.(Arg293His) g.62493771G>A Copied from the Exome Variant Server ABHD16B_000031 1/12960 0/8584 1/4376 - - - - - - -
?/? c.882C>T r.(=) p.(=) g.62493775C>T Copied from the Exome Variant Server ABHD16B_000032 1/12950 0/8584 1/4366 - - - - - - -
?/? c.962A>G r.(?) p.(Gln321Arg) g.62493855A>G Copied from the Exome Variant Server ABHD16B_000033 2/12910 0/8544 2/4366 - - - - - - -
?/? c.972G>A r.(=) p.(=) g.62493865G>A Copied from the Exome Variant Server ABHD16B_000034 89/12928 4/8560 85/4368 - - - - - - -
?/? c.996del r.(?) p.(Leu334Cysfs*26) g.62493889del Copied from the Exome Variant Server ABHD16B_000035 40/12368 30/8156 10/4212 - - - - - - -
?/? c.1011T>C r.(=) p.(=) g.62493904T>C Copied from the Exome Variant Server ABHD16B_000036 311/12896 3/8532 308/4364 - - - - - - -
?/? c.1085G>A r.(?) p.(Arg362Gln) g.62493978G>A Copied from the Exome Variant Server ABHD16B_000037 611/12562 540/8308 71/4254 - - - - - - -
?/? c.1108C>A r.(?) p.(Arg370Ser) g.62494001C>A Copied from the Exome Variant Server ABHD16B_000038 40/12202 0/8050 40/4152 - - - - - - -
?/? c.1134G>C r.(=) p.(=) g.62494027G>C Copied from the Exome Variant Server ABHD16B_000039 588/11824 483/7780 105/4044 - - - - - - -
?/? c.1143C>T r.(=) p.(=) g.62494036C>T Copied from the Exome Variant Server ABHD16B_000040 2/11824 0/7768 2/4056 - - - - - - -
?/? c.1151A>G r.(?) p.(Tyr384Cys) g.62494044A>G Copied from the Exome Variant Server ABHD16B_000041 1/11818 0/7766 1/4052 - - - - - - -
?/? c.1205G>A r.(?) p.(Arg402His) g.62494098G>A Copied from the Exome Variant Server ABHD16B_000042 1/11504 0/7554 1/3950 - - - - - - -
?/? c.1258del r.(?) p.(Ala421Profs*10) g.62494151del Copied from the Exome Variant Server ABHD16B_000043 19/11082 8/7270 11/3812 - - - - - - -
?/? c.1278G>A r.(=) p.(=) g.62494171G>A Copied from the Exome Variant Server ABHD16B_000044 2/11936 0/7868 2/4068 - - - - - - -
?/? c.1306C>T r.(?) p.(Arg436Trp) g.62494199C>T Copied from the Exome Variant Server ABHD16B_000045 2/12320 0/8148 2/4172 - - - - - - -
?/? c.1331G>T r.(?) p.(Arg444Leu) g.62494224G>T Copied from the Exome Variant Server ABHD16B_000046 4/12874 3/8524 1/4350 - - - - - - -
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