Full data view for gene EFHC2

Information The variants shown are described using the NM_025184.3 transcript reference sequence.

85 entries on 1 page. Showing entries 1 - 85.
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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.-57_-56insG r.(=) p.(=) g.44202890_44202891insC Copied from the Exome Variant Server EFHC2_000085 8760/8814 5831/5868 2929/2946 - - - - - - -
?/? c.-45C>T r.(=) p.(=) g.44202879G>A Copied from the Exome Variant Server EFHC2_000084 174/9501 1/6312 173/3189 - - - - - - -
?/? c.9G>A r.(=) p.(=) g.44202826C>T Copied from the Exome Variant Server EFHC2_000083 2/9956 2/6509 0/3447 - - - - - - -
?/? c.35A>G r.(?) p.(Asn12Ser) g.44202800T>C Copied from the Exome Variant Server EFHC2_000082 26/10007 0/6511 26/3496 - - - - - - -
?/? c.42+25C>T r.(=) p.(=) g.44202768G>A Copied from the Exome Variant Server EFHC2_000081 7/9936 7/6480 0/3456 - - - - - - -
?/? c.43-11T>A r.(=) p.(=) g.44172013A>T Copied from the Exome Variant Server EFHC2_000080 1/9461 1/6371 0/3090 - - - - - - -
?/? c.92A>G r.(?) p.(Asn31Ser) g.44171953T>C Copied from the Exome Variant Server EFHC2_000079 579/9521 474/6399 105/3122 - - - - - - -
?/? c.170G>A r.(?) p.(Cys57Tyr) g.44171875C>T Copied from the Exome Variant Server EFHC2_000078 129/9672 54/6433 75/3239 - - - - - - -
?/? c.200A>T r.(?) p.(Asp67Val) g.44171845T>A Copied from the Exome Variant Server EFHC2_000077 11/9707 1/6442 10/3265 - - - - - - -
?/? c.219C>G r.(=) p.(=) g.44171826G>C Copied from the Exome Variant Server EFHC2_000076 3/9709 0/6440 3/3269 - - - - - - -
?/? c.232-31A>G r.(=) p.(=) g.44132113T>C Copied from the Exome Variant Server EFHC2_000075 1/8602 1/5844 0/2758 - - - - - - -
?/? c.251A>G r.(?) p.(Tyr84Cys) g.44132063T>C Copied from the Exome Variant Server EFHC2_000074 1/9173 0/6198 1/2975 - - - - - - -
?/? c.383-31T>G r.(=) p.(=) g.44120575A>C Copied from the Exome Variant Server EFHC2_000073 1/9601 1/6405 0/3196 - - - - - - -
?/? c.383-30A>G r.(=) p.(=) g.44120574T>C Copied from the Exome Variant Server EFHC2_000072 3/9601 0/6403 3/3198 - - - - - - -
?/? c.383-25A>G r.(=) p.(=) g.44120569T>C Copied from the Exome Variant Server EFHC2_000071 3/9604 2/6404 1/3200 - - - - - - -
?/? c.383-4A>G r.spl? p.? g.44120548T>C Copied from the Exome Variant Server EFHC2_000070 1/9565 1/6405 0/3160 - - - - - - -
?/? c.404G>A r.(?) p.(Arg135Gln) g.44120523C>T Copied from the Exome Variant Server EFHC2_000069 5/9530 5/6398 0/3132 - - - - - - -
?/? c.417G>A r.(=) p.(=) g.44120510C>T Copied from the Exome Variant Server EFHC2_000068 3/9531 1/6397 2/3134 - - - - - - -
?/? c.481T>C r.(?) p.(Tyr161His) g.44120446A>G Copied from the Exome Variant Server EFHC2_000067 1/9506 1/6384 0/3122 - - - - - - -
?/? c.487C>T r.(?) p.(Arg163Trp) g.44120440G>A Copied from the Exome Variant Server EFHC2_000066 1/9514 0/6382 1/3132 - - - - - - -
?/? c.589A>G r.(?) p.(Met197Val) g.44120338T>C Copied from the Exome Variant Server EFHC2_000065 1/9553 0/6399 1/3154 - - - - - - -
?/? c.618C>T r.(=) p.(=) g.44109680G>A Copied from the Exome Variant Server EFHC2_000064 1/9668 1/6430 0/3238 - - - - - - -
?/? c.625C>T r.(?) p.(Pro209Ser) g.44109673G>A Copied from the Exome Variant Server EFHC2_000063 1/9697 1/6429 0/3268 - - - - - - -
?/? c.631C>T r.(?) p.(Arg211Cys) g.44109667G>A Copied from the Exome Variant Server EFHC2_000062 2/9715 2/6439 0/3276 - - - - - - -
?/? c.632G>A r.(?) p.(Arg211His) g.44109666C>T Copied from the Exome Variant Server EFHC2_000061 1/9728 1/6446 0/3282 - - - - - - -
?/? c.733G>A r.(?) p.(Asp245Asn) g.44109565C>T Copied from the Exome Variant Server EFHC2_000060 1/9818 0/6470 1/3348 - - - - - - -
?/? c.737G>A r.(?) p.(Arg246His) g.44109561C>T Copied from the Exome Variant Server EFHC2_000059 2/9804 2/6464 0/3340 - - - - - - -
?/? c.815G>A r.(?) p.(Arg272Gln) g.44109483C>T Copied from the Exome Variant Server EFHC2_000058 4/9749 3/6477 1/3272 - - - - - - -
?/? c.838C>T r.(?) p.(Arg280Trp) g.44109460G>A Copied from the Exome Variant Server EFHC2_000057 1/9730 0/6462 1/3268 - - - - - - -
?/? c.858+39G>A r.(=) p.(=) g.44109401C>T Copied from the Exome Variant Server EFHC2_000056 1/9754 0/6459 1/3295 - - - - - - -
?/? c.914A>G r.(?) p.(Asn305Ser) g.44108107T>C Copied from the Exome Variant Server EFHC2_000055 1/9554 0/6396 1/3158 - - - - - - -
?/? c.920A>G r.(?) p.(Tyr307Cys) g.44108101T>C Copied from the Exome Variant Server EFHC2_000054 1/9540 1/6392 0/3148 - - - - - - -
?/? c.960C>T r.(=) p.(=) g.44108061G>A Copied from the Exome Variant Server EFHC2_000053 1/9543 0/6396 1/3147 - - - - - - -
?/? c.972+2G>A r.spl? p.? g.44108047C>T Copied from the Exome Variant Server EFHC2_000052 1/9565 1/6396 0/3169 - - - - - - -
?/? c.973-31T>A r.(=) p.(=) g.44107687A>T Copied from the Exome Variant Server EFHC2_000051 1/9446 0/6363 1/3083 - - - - - - -
?/? c.975A>G r.(=) p.(=) g.44107654T>C Copied from the Exome Variant Server EFHC2_000050 2/9473 0/6374 2/3099 - - - - - - -
?/? c.1017C>G r.(=) p.(=) g.44107612G>C Copied from the Exome Variant Server EFHC2_000049 1/9537 1/6385 0/3152 - - - - - - -
?/? c.1111+36A>C r.(=) p.(=) g.44107482T>G Copied from the Exome Variant Server EFHC2_000048 3/6784 3/4558 0/2226 - - - - - - -
?/? c.1213C>T r.(?) p.(Arg405Cys) g.44101434G>A Copied from the Exome Variant Server EFHC2_000047 1/9586 0/6396 1/3190 - - - - - - -
?/? c.1214G>A r.(?) p.(Arg405His) g.44101433C>T Copied from the Exome Variant Server EFHC2_000046 1/9586 0/6398 1/3188 - - - - - - -
?/? c.1244A>G r.(?) p.(His415Arg) g.44101403T>C Copied from the Exome Variant Server EFHC2_000045 1/9587 0/6382 1/3205 - - - - - - -
?/? c.1260G>T r.(?) p.(Lys420Asn) g.44101387C>A Copied from the Exome Variant Server EFHC2_000044 1/9578 0/6393 1/3185 - - - - - - -
?/? c.1280+16A>G r.(=) p.(=) g.44101351T>C Copied from the Exome Variant Server EFHC2_000043 5/9626 5/6429 0/3197 - - - - - - -
?/? c.1280+29G>T r.(=) p.(=) g.44101338C>A Copied from the Exome Variant Server EFHC2_000042 1/9622 1/6425 0/3197 - - - - - - -
?/? c.1281-24_1281-21del r.(=) p.(=) g.44094714_44094717del Copied from the Exome Variant Server EFHC2_000041 2/9133 2/6136 0/2997 - - - - - - -
?/? c.1289C>A r.(?) p.(Ser430Tyr) g.44094685G>T Copied from the Exome Variant Server EFHC2_000040 727/9469 531/6380 196/3089 - - - - - - -
?/? c.1292A>G r.(?) p.(Lys431Arg) g.44094682T>C Copied from the Exome Variant Server EFHC2_000039 1/9477 0/6386 1/3091 - - - - - - -
?/? c.1337G>A r.(?) p.(Cys446Tyr) g.44094637C>T Copied from the Exome Variant Server EFHC2_000038 1/9507 1/6391 0/3116 - - - - - - -
?/? c.1344C>T r.(=) p.(=) g.44094630G>A Copied from the Exome Variant Server EFHC2_000037 102/9511 0/6391 102/3120 - - - - - - -
?/? c.1356G>A r.(?) p.(Met452Ile) g.44094618C>T Copied from the Exome Variant Server EFHC2_000036 2/9511 0/6393 2/3118 - - - - - - -
?/? c.1377C>T r.(=) p.(=) g.44094597G>A Copied from the Exome Variant Server EFHC2_000035 2/9496 2/6387 0/3109 - - - - - - -
?/? c.1410A>G r.(?) p.(Ile470Met) g.44094564T>C Copied from the Exome Variant Server EFHC2_000034 3/9457 3/6371 0/3086 - - - - - - -
?/? c.1423+24A>G r.(=) p.(=) g.44094527T>C Copied from the Exome Variant Server EFHC2_000033 1/9393 1/6347 0/3046 - - - - - - -
?/? c.1424-36A>C r.(=) p.(=) g.44091959T>G Copied from the Exome Variant Server EFHC2_000032 32/9347 1/6287 31/3060 - - - - - - -
?/? c.1456C>T r.(?) p.(Arg486Cys) g.44091891G>A Copied from the Exome Variant Server EFHC2_000031 1/9614 1/6419 0/3195 - - - - - - -
?/? c.1457G>A r.(?) p.(Arg486His) g.44091890C>T Copied from the Exome Variant Server EFHC2_000030 1/9638 1/6431 0/3207 - - - - - - -
?/? c.1459G>A r.(?) p.(Val487Ile) g.44091888C>T Copied from the Exome Variant Server EFHC2_000029 1/9665 1/6442 0/3223 - - - - - - -
?/? c.1516G>A r.(?) p.(Glu506Lys) g.44091831C>T Copied from the Exome Variant Server EFHC2_000028 32/9937 30/6520 2/3417 - - - - - - -
?/? c.1519G>C r.(?) p.(Glu507Gln) g.44091828C>G Copied from the Exome Variant Server EFHC2_000027 16/9949 9/6526 7/3423 - - - - - - -
?/? c.1538C>T r.(?) p.(Thr513Met) g.44091809G>A Copied from the Exome Variant Server EFHC2_000026 1/9991 1/6538 0/3453 - - - - - - -
?/? c.1574A>G r.(?) p.(Asn525Ser) g.44091773T>C Copied from the Exome Variant Server EFHC2_000025 1/9950 0/6521 1/3429 - - - - - - -
?/? c.1620+44C>T r.(=) p.(=) g.44091683G>A Copied from the Exome Variant Server EFHC2_000024 2/9564 2/6318 0/3246 - - - - - - -
?/? c.1620+45G>A r.(=) p.(=) g.44091682C>T Copied from the Exome Variant Server EFHC2_000023 1/9519 1/6301 0/3218 - - - - - - -
?/? c.1696G>A r.(?) p.(Val566Ile) g.44088950C>T Copied from the Exome Variant Server EFHC2_000022 7/9575 6/6405 1/3170 - - - - - - -
?/? c.1752-34T>C r.(=) p.(=) g.44037844A>G Copied from the Exome Variant Server EFHC2_000021 9/9387 9/6332 0/3055 - - - - - - -
?/? c.1782C>A r.(?) p.(Asn594Lys) g.44037780G>T Copied from the Exome Variant Server EFHC2_000020 1/9522 1/6392 0/3130 - - - - - - -
?/? c.1786G>A r.(?) p.(Ala596Thr) g.44037776C>T Copied from the Exome Variant Server EFHC2_000019 5/9524 0/6394 5/3130 - - - - - - -
?/? c.1813C>T r.(?) p.(Arg605Cys) g.44037749G>A Copied from the Exome Variant Server EFHC2_000018 1/9546 1/6400 0/3146 - - - - - - -
?/? c.1861A>G r.(?) p.(Ile621Val) g.44037701T>C Copied from the Exome Variant Server EFHC2_000017 1/9526 0/6394 1/3132 - - - - - - -
?/? c.1863C>T r.(=) p.(=) g.44037699G>A Copied from the Exome Variant Server EFHC2_000016 2/9524 2/6394 0/3130 - - - - - - -
?/? c.1875C>T r.(=) p.(=) g.44037687G>A Copied from the Exome Variant Server EFHC2_000015 1/9537 1/6403 0/3134 - - - - - - -
?/? c.1883T>G r.(?) p.(Phe628Cys) g.44037679A>C Copied from the Exome Variant Server EFHC2_000014 1/9511 1/6387 0/3124 - - - - - - -
?/? c.1950-44G>A r.(=) p.(=) g.44035674C>T Copied from the Exome Variant Server EFHC2_000013 421/9377 356/6316 65/3061 - - - - - - -
?/? c.1950-39C>A r.(=) p.(=) g.44035669G>T Copied from the Exome Variant Server EFHC2_000012 3/9392 3/6331 0/3061 - - - - - - -
?/? c.1950-26del r.(=) p.(=) g.44035656del Copied from the Exome Variant Server EFHC2_000011 3/9109 3/6128 0/2981 - - - - - - -
?/? c.1973A>G r.(?) p.(Asp658Gly) g.44035607T>C Copied from the Exome Variant Server EFHC2_000010 1/9505 1/6401 0/3104 - - - - - - -
?/? c.2023C>T r.(=) p.(=) g.44035557G>A Copied from the Exome Variant Server EFHC2_000009 3/9534 0/6400 3/3134 - - - - - - -
?/? c.2064A>G r.(=) p.(=) g.44023252T>C Copied from the Exome Variant Server EFHC2_000008 1/9039 1/6108 0/2931 - - - - - - -
?/? c.2148+15T>C r.(=) p.(=) g.44023153A>G Copied from the Exome Variant Server EFHC2_000007 8/9042 7/6095 1/2947 - - - - - - -
?/? c.2160T>C r.(=) p.(=) g.44008131A>G Copied from the Exome Variant Server EFHC2_000006 5/9544 5/6391 0/3153 - - - - - - -
?/? c.2192C>T r.(?) p.(Ala731Val) g.44008099G>A Copied from the Exome Variant Server EFHC2_000005 9/9571 0/6402 9/3169 - - - - - - -
?/? c.2214C>G r.(=) p.(=) g.44008077G>C Copied from the Exome Variant Server EFHC2_000004 1/9572 0/6404 1/3168 - - - - - - -
?/? c.2241G>C r.(?) p.(Glu747Asp) g.44008050C>G Copied from the Exome Variant Server EFHC2_000003 1/9547 0/6393 1/3154 - - - - - - -
?/? c.*30T>G r.(=) p.(=) g.44008011A>C Copied from the Exome Variant Server EFHC2_000002 153/9427 0/6342 153/3085 - - - - - - -
?/? c.*42A>G r.(=) p.(=) g.44007999T>C Copied from the Exome Variant Server EFHC2_000001 1/9354 0/6309 1/3045 - - - - - - -
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