| 151732421 | CV1378390 | single nucleotide variant | NM_152327.5(AK7):c.871-2A>G | not provided [RCV002041344] | uncertain significance | 14 | 96449800 | 96449800 | Human | | name |
| 152122036 | CV1554732 | single nucleotide variant | NM_152327.5(AK7):c.499-8T>C | not provided [RCV002198182] | benign | 14 | 96420814 | 96420814 | Human | | name |
| 152102902 | CV1560497 | single nucleotide variant | NM_152327.5(AK7):c.871-9C>T | not provided [RCV002152026] | likely benign | 14 | 96449793 | 96449793 | Human | | name |
| 152123538 | CV1641140 | single nucleotide variant | NM_152327.5(AK7):c.498+8G>A | not provided [RCV002098492] | benign | 14 | 96408949 | 96408949 | Human | | name |
| 152120132 | CV1664933 | single nucleotide variant | NM_152327.5(AK7):c.498+7A>T | not provided [RCV002117746] | likely benign | 14 | 96408948 | 96408948 | Human | | name |
| 156404071 | CV1898111 | single nucleotide variant | NM_152327.5(AK7):c.499-5A>G | not provided [RCV002585331] | likely benign | 14 | 96420817 | 96420817 | Human | | name |
| 402495039 | CV2978585 | single nucleotide variant | NM_152327.5(AK7):c.105+9C>T | not provided [RCV003714167] | likely benign | 14 | 96392268 | 96392268 | Human | | name |
| 405013744 | CV2994218 | single nucleotide variant | NM_152327.5(AK7):c.403+2T>A | not provided [RCV003694208] | uncertain significance | 14 | 96404867 | 96404867 | Human | | name |
| 402487664 | CV2995424 | single nucleotide variant | NM_152327.5(AK7):c.106-7C>A | not provided [RCV003687225] | uncertain significance | 14 | 96398068 | 96398068 | Human | | name |
| 405176826 | CV3049367 | duplication | NM_152327.5(AK7):c.498+2dup | not provided [RCV003728356] | uncertain significance | 14 | 96408942 | 96408943 | Human | | name |
| 405161291 | CV3062381 | single nucleotide variant | NM_152327.5(AK7):c.779+3A>G | not provided [RCV003727038] | uncertain significance | 14 | 96442821 | 96442821 | Human | | name |
| 405101413 | CV3148088 | single nucleotide variant | NM_152327.5(AK7):c.498+1G>A | not provided [RCV003852718] | uncertain significance | 14 | 96408942 | 96408942 | Human | | name |
| 405215058 | CV3160655 | single nucleotide variant | NM_152327.5(AK7):c.498+4A>T | not provided [RCV003862717] | uncertain significance | 14 | 96408945 | 96408945 | Human | | name |
| 597886913 | CV3741868 | single nucleotide variant | NM_152327.5(AK7):c.498+9A>G | not provided [RCV005070588] | likely benign | 14 | 96408950 | 96408950 | Human | | name |
| 597950607 | CV3759748 | single nucleotide variant | NM_152327.5(AK7):c.870+7T>C | not provided [RCV005079348] | likely benign | 14 | 96446614 | 96446614 | Human | | name |
| 597968397 | CV3761069 | single nucleotide variant | NM_152327.5(AK7):c.295-4T>G | not provided [RCV005083456] | likely benign | 14 | 96404753 | 96404753 | Human | | name |
| 597967442 | CV3824242 | single nucleotide variant | NM_152327.5(AK7):c.780-8G>A | not provided [RCV005165465] | likely benign | 14 | 96446509 | 96446509 | Human | | name |
| 597974370 | CV3831601 | single nucleotide variant | NM_152327.5(AK7):c.609+5G>A | not provided [RCV005168540] | uncertain significance | 14 | 96420937 | 96420937 | Human | | name |
| 597946482 | CV3841666 | single nucleotide variant | NM_152327.5(AK7):c.404-8C>T | not provided [RCV005189099] | likely benign | 14 | 96408839 | 96408839 | Human | | name |
| 151770294 | CV1454571 | single nucleotide variant | NM_152327.5(AK7):c.690+13A>G | not provided [RCV001950092] | likely benign|uncertain significance | 14 | 96437928 | 96437928 | Human | | name |
| 152046230 | CV1525816 | single nucleotide variant | NM_152327.5(AK7):c.779+20C>T | not provided [RCV002126675] | likely benign | 14 | 96442838 | 96442838 | Human | | name |
| 152171065 | CV1543933 | single nucleotide variant | NM_152327.5(AK7):c.690+20C>T | not provided [RCV002161979] | likely benign | 14 | 96437935 | 96437935 | Human | | name |
| 152158770 | CV1544270 | duplication | NM_152327.5(AK7):c.948+29dup | not provided [RCV002122824] | benign | 14 | 96449895 | 96449896 | Human | | name |
| 152032171 | CV1548938 | single nucleotide variant | NM_152327.5(AK7):c.498+17C>T | not provided [RCV002086524] | likely benign | 14 | 96408958 | 96408958 | Human | | name |
| 152118621 | CV1558185 | single nucleotide variant | NM_152327.5(AK7):c.779+11G>A | not provided [RCV002135419] | likely benign | 14 | 96442829 | 96442829 | Human | | name |
| 152119187 | CV1558398 | single nucleotide variant | NM_152327.5(AK7):c.403+20T>C | not provided [RCV002135487] | likely benign | 14 | 96404885 | 96404885 | Human | | name |
| 152125904 | CV1565698 | duplication | NM_152327.5(AK7):c.948+16dup | not provided [RCV002136309] | likely benign | 14 | 96449894 | 96449895 | Human | | name |
| 152107379 | CV1579386 | single nucleotide variant | NM_152327.5(AK7):c.294+16T>C | not provided [RCV002173892] | likely benign | 14 | 96398279 | 96398279 | Human | | name |
| 152070830 | CV1628503 | single nucleotide variant | NM_152327.5(AK7):c.403+17C>T | not provided [RCV002169268] | likely benign | 14 | 96404882 | 96404882 | Human | | name |
| 152145414 | CV1649348 | single nucleotide variant | NM_152327.5(AK7):c.871-17C>T | not provided [RCV002120958] | benign | 14 | 96449785 | 96449785 | Human | | name |
| 152065115 | CV1652507 | single nucleotide variant | NM_152327.5(AK7):c.609+13T>G | not provided [RCV002090792] | benign | 14 | 96420945 | 96420945 | Human | | name |
| 156192665 | CV1904245 | single nucleotide variant | NM_152327.5(AK7):c.1555+3A>G | not provided [RCV002574464] | uncertain significance | 14 | 96472758 | 96472758 | Human | | name |
| 156076968 | CV1912457 | single nucleotide variant | NM_152327.5(AK7):c.1753+9T>C | not provided [RCV002591450] | likely benign | 14 | 96478671 | 96478671 | Human | | name |
| 156414948 | CV1955268 | single nucleotide variant | NM_152327.5(AK7):c.105+16G>T | not provided [RCV002588893] | likely benign | 14 | 96392275 | 96392275 | Human | | name |
| 156213474 | CV1963123 | single nucleotide variant | NM_152327.5(AK7):c.690+16A>T | not provided [RCV002575241] | likely benign | 14 | 96437931 | 96437931 | Human | | name |
| 156417255 | CV1970285 | single nucleotide variant | NM_152327.5(AK7):c.871-16G>A | not provided [RCV002590092] | likely benign | 14 | 96449786 | 96449786 | Human | | name |
| 155906683 | CV1972178 | single nucleotide variant | NM_152327.5(AK7):c.1556-2A>T | not provided [RCV002613714] | uncertain significance | 14 | 96478463 | 96478463 | Human | | name |
| 156325351 | CV1985226 | single nucleotide variant | NM_152327.5(AK7):c.870+20T>C | not provided [RCV002649521] | likely benign | 14 | 96446627 | 96446627 | Human | | name |
| 156202757 | CV2004268 | single nucleotide variant | NM_152327.5(AK7):c.949-15T>A | not provided [RCV002666553] | likely benign | 14 | 96451406 | 96451406 | Human | | name |
| 156139862 | CV2040727 | single nucleotide variant | NM_152327.5(AK7):c.610-17T>G | not provided [RCV002786482] | likely benign | 14 | 96437818 | 96437818 | Human | | name |
| 156234418 | CV2145085 | single nucleotide variant | NM_152327.5(AK7):c.780-11T>G | not provided [RCV003007863] | likely benign | 14 | 96446506 | 96446506 | Human | | name |
| 156227993 | CV2164823 | single nucleotide variant | NM_152327.5(AK7):c.294+14G>T | not provided [RCV003042976] | likely benign | 14 | 96398277 | 96398277 | Human | | name |
| 156069335 | CV2168707 | single nucleotide variant | NM_152327.5(AK7):c.691-12T>C | not provided [RCV003037518] | likely benign | 14 | 96442718 | 96442718 | Human | | name |
| 156316730 | CV2169257 | single nucleotide variant | NM_152327.5(AK7):c.1357+8A>G | not provided [RCV003028906] | likely benign | 14 | 96458220 | 96458220 | Human | | name |
| 402479241 | CV2853905 | single nucleotide variant | NM_152327.5(AK7):c.106-14C>G | not provided [RCV003543839] | likely benign | 14 | 96398061 | 96398061 | Human | | name |
| 405073295 | CV2873023 | single nucleotide variant | NM_152327.5(AK7):c.779+10C>T | not provided [RCV003548661] | likely benign | 14 | 96442828 | 96442828 | Human | | name |
| 405128357 | CV2893301 | single nucleotide variant | NM_152327.5(AK7):c.105+10G>T | not provided [RCV003559796] | likely benign | 14 | 96392269 | 96392269 | Human | | name |
| 402502977 | CV2932670 | single nucleotide variant | NM_152327.5(AK7):c.294+20G>T | not provided [RCV003574188] | likely benign | 14 | 96398283 | 96398283 | Human | | name |
| 402501277 | CV2943709 | single nucleotide variant | NM_152327.5(AK7):c.105+16G>A | not provided [RCV003661633] | likely benign | 14 | 96392275 | 96392275 | Human | | name |
| 405092537 | CV2947066 | single nucleotide variant | NM_152327.5(AK7):c.403+11T>G | not provided [RCV003665384] | likely benign | 14 | 96404876 | 96404876 | Human | | name |
| 405163712 | CV2960558 | single nucleotide variant | NM_152327.5(AK7):c.690+20C>G | not provided [RCV003674870] | likely benign | 14 | 96437935 | 96437935 | Human | | name |
| 402487989 | CV2995480 | single nucleotide variant | NM_152327.5(AK7):c.690+18G>A | not provided [RCV003687255] | likely benign | 14 | 96437933 | 96437933 | Human | | name |
| 405029843 | CV3012556 | single nucleotide variant | NM_152327.5(AK7):c.1486+2T>C | not provided [RCV003695484] | uncertain significance | 14 | 96471608 | 96471608 | Human | | name |
| 405027880 | CV3015539 | single nucleotide variant | NM_152327.5(AK7):c.294+20G>A | not provided [RCV003695345] | likely benign | 14 | 96398283 | 96398283 | Human | | name |
| 405213757 | CV3078322 | single nucleotide variant | NM_152327.5(AK7):c.1098+3A>G | not provided [RCV003732364] | uncertain significance | 14 | 96451573 | 96451573 | Human | | name |
| 405168238 | CV3122307 | single nucleotide variant | NM_152327.5(AK7):c.948+11G>A | not provided [RCV003818896] | likely benign | 14 | 96449890 | 96449890 | Human | | name |
| 405205857 | CV3126683 | single nucleotide variant | NM_152327.5(AK7):c.498+15A>G | not provided [RCV003822617] | likely benign | 14 | 96408956 | 96408956 | Human | | name |
| 405209933 | CV3145927 | single nucleotide variant | NM_152327.5(AK7):c.1753+9T>G | not provided [RCV003845657] | likely benign | 14 | 96478671 | 96478671 | Human | | name |
| 405191464 | CV3149660 | single nucleotide variant | NM_152327.5(AK7):c.404-19C>T | not provided [RCV003843386] | likely benign | 14 | 96408828 | 96408828 | Human | | name |
| 405148209 | CV3152167 | single nucleotide variant | NM_152327.5(AK7):c.294+10G>A | not provided [RCV003856138] | likely benign | 14 | 96398273 | 96398273 | Human | | name |
| 405211882 | CV3173531 | single nucleotide variant | NM_152327.5(AK7):c.779+10C>A | not provided [RCV003862280] | likely benign | 14 | 96442828 | 96442828 | Human | | name |
| 597831694 | CV3740069 | single nucleotide variant | NM_152327.5(AK7):c.1098+9C>G | not provided [RCV005062767] | likely benign | 14 | 96451579 | 96451579 | Human | | name |
| 597862032 | CV3745151 | single nucleotide variant | NM_152327.5(AK7):c.105+18C>T | not provided [RCV005067507] | likely benign | 14 | 96392277 | 96392277 | Human | | name |
| 597935494 | CV3759432 | single nucleotide variant | NM_152327.5(AK7):c.948+13G>A | not provided [RCV005076552] | likely benign | 14 | 96449892 | 96449892 | Human | | name |
| 597945088 | CV3776775 | single nucleotide variant | NM_152327.5(AK7):c.1099-7C>T | not provided [RCV005119631] | likely benign | 14 | 96456340 | 96456340 | Human | | name |
| 597935732 | CV3807165 | single nucleotide variant | NM_152327.5(AK7):c.403+10G>A | not provided [RCV005157736] | likely benign | 14 | 96404875 | 96404875 | Human | | name |
| 597896727 | CV3834637 | single nucleotide variant | NM_152327.5(AK7):c.779+15A>G | not provided [RCV005180548] | likely benign | 14 | 96442833 | 96442833 | Human | | name |
| 597937072 | CV3862636 | single nucleotide variant | NM_152327.5(AK7):c.1974+7G>A | not provided [RCV005207908] | likely benign | 14 | 96483226 | 96483226 | Human | | name |
| 12896931 | CV390143 | single nucleotide variant | NM_152327.5(AK7):c.948+12C>T | not provided [RCV002056682]|not specified [RCV000456011] | benign | 14 | 96449891 | 96449891 | Human | | name |
| 152071573 | CV1544369 | single nucleotide variant | NM_152327.5(AK7):c.1555+16T>C | not provided [RCV002129682] | benign | 14 | 96472771 | 96472771 | Human | | name |
| 152152044 | CV1559787 | single nucleotide variant | NM_152327.5(AK7):c.1975-17C>T | not provided [RCV002220968] | likely benign | 14 | 96486881 | 96486881 | Human | | name |
| 152145900 | CV1564238 | single nucleotide variant | NM_152327.5(AK7):c.1358-10T>A | not provided [RCV002138800] | likely benign | 14 | 96471468 | 96471468 | Human | | name |
| 152123609 | CV1587279 | single nucleotide variant | NM_152327.5(AK7):c.1555+16T>G | not provided [RCV002136029] | likely benign | 14 | 96472771 | 96472771 | Human | | name |
| 152075791 | CV1616794 | deletion | NM_152327.5(AK7):c.1358-13del | not provided [RCV002210576] | benign | 14 | 96471465 | 96471465 | Human | | name |
| 152040455 | CV1644136 | single nucleotide variant | NM_152327.5(AK7):c.1487-20G>A | not provided [RCV002126013] | likely benign | 14 | 96472667 | 96472667 | Human | | name |
| 152145869 | CV1649439 | single nucleotide variant | NM_152327.5(AK7):c.1227+13A>T | not provided [RCV002121028] | likely benign | 14 | 96456488 | 96456488 | Human | | name |
| 152121459 | CV1662230 | single nucleotide variant | NM_152327.5(AK7):c.2133+19A>T | not provided [RCV002117902] | benign | 14 | 96487075 | 96487075 | Human | | name |
| 156326748 | CV1956226 | single nucleotide variant | NM_152327.5(AK7):c.1357+16C>T | not provided [RCV002579768] | likely benign | 14 | 96458228 | 96458228 | Human | | name |
| 156332391 | CV1966607 | single nucleotide variant | NM_152327.5(AK7):c.1754-17T>C | not provided [RCV002600866] | uncertain significance | 14 | 96482982 | 96482982 | Human | | name |
| 156412154 | CV1969298 | single nucleotide variant | NM_152327.5(AK7):c.1486+16C>T | not provided [RCV002587725] | benign | 14 | 96471622 | 96471622 | Human | | name |
| 156157376 | CV1987911 | single nucleotide variant | NM_152327.5(AK7):c.1099-14C>T | not provided [RCV002642279] | likely benign | 14 | 96456333 | 96456333 | Human | | name |
| 156213265 | CV2018976 | single nucleotide variant | NM_152327.5(AK7):c.1099-16C>A | not provided [RCV002700710] | likely benign | 14 | 96456331 | 96456331 | Human | | name |
| 156310110 | CV2063346 | single nucleotide variant | NM_152327.5(AK7):c.2134-10T>A | not provided [RCV002834070] | likely benign | 14 | 96488295 | 96488295 | Human | | name |
| 156291675 | CV2065061 | single nucleotide variant | NM_152327.5(AK7):c.2134-18T>C | not provided [RCV002856778] | likely benign | 14 | 96488287 | 96488287 | Human | | name |
| 155988841 | CV2133405 | single nucleotide variant | NM_152327.5(AK7):c.1227+12A>G | not provided [RCV002996468] | likely benign | 14 | 96456487 | 96456487 | Human | | name |
| 405239605 | CV2979893 | duplication | NM_152327.5(AK7):c.2133+25dup | not provided [RCV003683764] | benign | 14 | 96487074 | 96487075 | Human | | name |
| 405184997 | CV3040332 | single nucleotide variant | NM_152327.5(AK7):c.1753+16A>G | not provided [RCV003705931] | likely benign | 14 | 96478678 | 96478678 | Human | | name |
| 404989393 | CV3179968 | single nucleotide variant | NM_152327.5(AK7):c.1486+12T>C | not provided [RCV003881446] | likely benign | 14 | 96471618 | 96471618 | Human | | name |
| 597888485 | CV3739266 | single nucleotide variant | NM_152327.5(AK7):c.1358-20C>T | not provided [RCV005070813] | likely benign | 14 | 96471458 | 96471458 | Human | | name |
| 597872377 | CV3747162 | single nucleotide variant | NM_152327.5(AK7):c.1228-13C>T | not provided [RCV005068846] | likely benign | 14 | 96458070 | 96458070 | Human | | name |
| 405274570 | CV3208952 | single nucleotide variant | NM_152327.5(AK7):c.2134-336A>C | AK7-related disorder [RCV003951729] | likely benign | 14 | 96487969 | 96487969 | Human | | name , trait , alternate_id |
| 152156940 | CV1586074 | deletion | NM_152327.5(AK7):c.949-9_949-6del | not provided [RCV002140278] | likely benign | 14 | 96451409 | 96451412 | Human | | name |
| 156391989 | CV2005750 | deletion | NM_152327.5(AK7):c.871-3_871-2del | not provided [RCV002680857] | uncertain significance | 14 | 96449798 | 96449799 | Human | | name |
| 155956329 | CV2040157 | duplication | NM_152327.5(AK7):c.105+4_105+9dup | not provided [RCV002776037] | benign | 14 | 96392262 | 96392263 | Human | | name |
| 597925526 | CV3840413 | deletion | NM_152327.5(AK7):c.871-5_871-4del | not provided [RCV005184882] | likely benign | 14 | 96449797 | 96449798 | Human | | name |
| 152167881 | CV1547816 | single nucleotide variant | NM_152327.5(AK7):c.51C>A (p.Thr17=) | not provided [RCV002160975] | benign | 14 | 96392205 | 96392205 | Human | | name |
| 152051039 | CV1569179 | duplication | NM_152327.5(AK7):c.948+28_948+29dup | not provided [RCV002207526] | benign | 14 | 96449895 | 96449896 | Human | | name |
| 152083324 | CV1569434 | single nucleotide variant | NM_152327.5(AK7):c.99C>A (p.Ile33=) | not provided [RCV002113054] | likely benign | 14 | 96392253 | 96392253 | Human | | name |
| 152026928 | CV1593638 | single nucleotide variant | NM_152327.5(AK7):c.30C>G (p.Leu10=) | not provided [RCV002104721] | likely benign | 14 | 96392184 | 96392184 | Human | | name |
| 155990266 | CV1990458 | single nucleotide variant | NM_152327.5(AK7):c.54G>A (p.Gln18=) | not provided [RCV002617990] | likely benign | 14 | 96392208 | 96392208 | Human | | name |
| 156212509 | CV1997195 | single nucleotide variant | NM_152327.5(AK7):c.33G>C (p.Thr11=) | not provided [RCV002666897] | likely benign | 14 | 96392187 | 96392187 | Human | | name |
| 156231955 | CV2019811 | single nucleotide variant | NM_152327.5(AK7):c.30C>T (p.Leu10=) | not provided [RCV002701394] | likely benign | 14 | 96392184 | 96392184 | Human | | name |
| 156086516 | CV2080068 | single nucleotide variant | NM_152327.5(AK7):c.60G>T (p.Val20=) | not provided [RCV002847563] | likely benign | 14 | 96392214 | 96392214 | Human | | name |
| 156145819 | CV2122803 | deletion | NM_152327.5(AK7):c.1556-9_1556-7del | not provided [RCV002954393] | likely benign|uncertain significance | 14 | 96478454 | 96478456 | Human | | name |
| 405096017 | CV3045552 | single nucleotide variant | NM_152327.5(AK7):c.7G>A (p.Glu3Lys) | not provided [RCV003717970] | uncertain significance | 14 | 96392161 | 96392161 | Human | | name |
| 405135953 | CV3115707 | microsatellite | NM_152327.5(AK7):c.2133+8_2133+9del | not provided [RCV003816364] | likely benign | 14 | 96487062 | 96487063 | Human | | name |
| 152031243 | CV1591044 | single nucleotide variant | NM_152327.5(AK7):c.288G>A (p.Thr96=) | not provided [RCV002186654] | likely benign | 14 | 96398257 | 96398257 | Human | | name |
| 156386447 | CV1894103 | single nucleotide variant | NM_152327.5(AK7):c.168A>G (p.Glu56=) | not provided [RCV003093727] | likely benign | 14 | 96398137 | 96398137 | Human | | name |
| 156409683 | CV1922819 | single nucleotide variant | NM_152327.5(AK7):c.243G>A (p.Thr81=) | not provided [RCV002607630] | likely benign | 14 | 96398212 | 96398212 | Human | | name |
| 156416601 | CV1976710 | single nucleotide variant | NM_152327.5(AK7):c.273C>T (p.Asp91=) | not provided [RCV002589776] | likely benign | 14 | 96398242 | 96398242 | Human | | name |
| 156223468 | CV2115243 | single nucleotide variant | NM_152327.5(AK7):c.198T>G (p.Ala66=) | not provided [RCV002932549] | likely benign | 14 | 96398167 | 96398167 | Human | | name |
| 405173421 | CV2907747 | single nucleotide variant | NM_152327.5(AK7):c.135G>A (p.Ser45=) | not provided [RCV003563326] | likely benign | 14 | 96398104 | 96398104 | Human | | name |
| 405055190 | CV2931927 | single nucleotide variant | NM_152327.5(AK7):c.135G>C (p.Ser45=) | not provided [RCV003580082] | likely benign | 14 | 96398104 | 96398104 | Human | | name |
| 405063083 | CV2939739 | single nucleotide variant | NM_152327.5(AK7):c.22G>C (p.Ala8Pro) | not provided [RCV003658923] | uncertain significance | 14 | 96392176 | 96392176 | Human | | name |
| 405192279 | CV3118132 | single nucleotide variant | NM_152327.5(AK7):c.105G>A (p.Lys35=) | not provided [RCV003821042] | uncertain significance | 14 | 96392259 | 96392259 | Human | | name |
| 405233117 | CV3145003 | single nucleotide variant | NM_152327.5(AK7):c.25G>C (p.Ala9Pro) | not provided [RCV003853260] | uncertain significance | 14 | 96392179 | 96392179 | Human | | name |
| 597873346 | CV3747317 | single nucleotide variant | NM_152327.5(AK7):c.279G>A (p.Ala93=) | not provided [RCV005069001] | likely benign | 14 | 96398248 | 96398248 | Human | | name |
| 597944404 | CV3847875 | single nucleotide variant | NM_152327.5(AK7):c.279G>C (p.Ala93=) | not provided [RCV005188604] | likely benign | 14 | 96398248 | 96398248 | Human | | name |
| 151724780 | CV1437146 | single nucleotide variant | NM_152327.5(AK7):c.705C>T (p.Gly235=) | not provided [RCV002004130] | likely benign|uncertain significance | 14 | 96442744 | 96442744 | Human | | name |
| 151757213 | CV1443492 | single nucleotide variant | NM_152327.5(AK7):c.44T>C (p.Ile15Thr) | not provided [RCV001872841] | uncertain significance | 14 | 96392198 | 96392198 | Human | | name |
| 152117238 | CV1524068 | single nucleotide variant | NM_152327.5(AK7):c.354C>T (p.Asn118=) | not provided [RCV002135252] | likely benign | 14 | 96404816 | 96404816 | Human | | name |
| 152101060 | CV1546910 | single nucleotide variant | NM_152327.5(AK7):c.993G>A (p.Ala331=) | not provided [RCV002151818] | benign | 14 | 96451465 | 96451465 | Human | | name |
| 152107774 | CV1578005 | single nucleotide variant | NM_152327.5(AK7):c.819C>T (p.His273=) | not provided [RCV002096417] | likely benign | 14 | 96446556 | 96446556 | Human | | name |
| 152145027 | CV1582605 | single nucleotide variant | NM_152327.5(AK7):c.897G>A (p.Gly299=) | not provided [RCV002201106] | likely benign | 14 | 96449828 | 96449828 | Human | | name |
| 152096771 | CV1599790 | single nucleotide variant | NM_152327.5(AK7):c.507T>C (p.Ser169=) | not provided [RCV002151299] | benign | 14 | 96420830 | 96420830 | Human | | name |
| 152049203 | CV1602275 | single nucleotide variant | NM_152327.5(AK7):c.660G>A (p.Ala220=) | AK7-related disorder [RCV003933443]|not provided [RCV002127024] | likely benign | 14 | 96437885 | 96437885 | Human | 1 | name , trait , alternate_id |
| 152143743 | CV1636746 | single nucleotide variant | NM_152327.5(AK7):c.681A>T (p.Thr227=) | AK7-related disorder [RCV003933555]|not provided [RCV002120726] | likely benign | 14 | 96437906 | 96437906 | Human | 1 | name , trait , alternate_id |
| 152126570 | CV1646377 | single nucleotide variant | NM_152327.5(AK7):c.738A>G (p.Gly246=) | not provided [RCV002217489] | likely benign | 14 | 96442777 | 96442777 | Human | | name |
| 152115372 | CV1653997 | single nucleotide variant | NM_152327.5(AK7):c.792C>T (p.Asn264=) | not provided [RCV002097405] | likely benign | 14 | 96446529 | 96446529 | Human | | name |
| 156407983 | CV1873152 | single nucleotide variant | NM_152327.5(AK7):c.927A>G (p.Ala309=) | not provided [RCV003071092] | likely benign | 14 | 96449858 | 96449858 | Human | | name |
| 156050036 | CV1884356 | single nucleotide variant | NM_152327.5(AK7):c.903C>A (p.Ile301=) | not provided [RCV003078838] | likely benign | 14 | 96449834 | 96449834 | Human | | name |
| 156274132 | CV1957322 | deletion | NM_152327.5(AK7):c.1486+18_1486+22del | not provided [RCV002577264] | likely benign | 14 | 96471623 | 96471627 | Human | | name |
| 156398354 | CV1965892 | deletion | NM_152327.5(AK7):c.1974+18_1974+21del | not provided [RCV002584608] | likely benign | 14 | 96483234 | 96483237 | Human | | name |
| 156078337 | CV1975588 | single nucleotide variant | NM_152327.5(AK7):c.768T>C (p.Leu256=) | not provided [RCV002621461] | likely benign | 14 | 96442807 | 96442807 | Human | | name |
| 156388247 | CV1983148 | single nucleotide variant | NM_152327.5(AK7):c.996C>G (p.Leu332=) | not provided [RCV002634766] | likely benign | 14 | 96451468 | 96451468 | Human | | name |
| 156103591 | CV1992092 | single nucleotide variant | NM_152327.5(AK7):c.804C>T (p.His268=) | not provided [RCV002622305] | likely benign | 14 | 96446541 | 96446541 | Human | | name |
| 156103512 | CV2011715 | single nucleotide variant | NM_152327.5(AK7):c.357C>T (p.Ile119=) | not provided [RCV002695396] | likely benign | 14 | 96404819 | 96404819 | Human | | name |
| 155972149 | CV2079286 | single nucleotide variant | NM_152327.5(AK7):c.459G>A (p.Ser153=) | not provided [RCV002881538] | likely benign | 14 | 96408902 | 96408902 | Human | | name |
| 156159483 | CV2096801 | single nucleotide variant | NM_152327.5(AK7):c.996C>A (p.Leu332=) | not provided [RCV002872603] | likely benign | 14 | 96451468 | 96451468 | Human | | name |
| 156161750 | CV2136845 | single nucleotide variant | NM_152327.5(AK7):c.402T>C (p.Ser134=) | not provided [RCV003005089] | uncertain significance | 14 | 96404864 | 96404864 | Human | | name |
| 401902253 | CV2807217 | single nucleotide variant | NM_152327.5(AK7):c.471T>C (p.Thr157=) | not provided [RCV003393595] | likely benign | 14 | 96408914 | 96408914 | Human | | name |
| 405217371 | CV2873467 | single nucleotide variant | NM_152327.5(AK7):c.639T>C (p.Ala213=) | not provided [RCV003553396] | likely benign | 14 | 96437864 | 96437864 | Human | | name |
| 402521090 | CV2902828 | single nucleotide variant | NM_152327.5(AK7):c.609G>A (p.Lys203=) | not provided [RCV003575860] | uncertain significance | 14 | 96420932 | 96420932 | Human | | name |
| 405100604 | CV2948028 | single nucleotide variant | NM_152327.5(AK7):c.546G>A (p.Lys182=) | not provided [RCV003666052] | likely benign | 14 | 96420869 | 96420869 | Human | | name |
| 405138724 | CV2954492 | single nucleotide variant | NM_152327.5(AK7):c.603A>G (p.Gly201=) | not provided [RCV003672970] | likely benign | 14 | 96420926 | 96420926 | Human | | name |
| 405162068 | CV3021585 | single nucleotide variant | NM_152327.5(AK7):c.657A>G (p.Gly219=) | not provided [RCV003703982] | likely benign | 14 | 96437882 | 96437882 | Human | | name |
| 405048962 | CV3025391 | single nucleotide variant | NM_152327.5(AK7):c.696T>A (p.Ala232=) | not provided [RCV003696868] | likely benign | 14 | 96442735 | 96442735 | Human | | name |
| 405040231 | CV3063872 | single nucleotide variant | NM_152327.5(AK7):c.82T>A (p.Tyr28Asn) | not provided [RCV003739859] | uncertain significance | 14 | 96392236 | 96392236 | Human | | name |
| 405213788 | CV3128300 | single nucleotide variant | NM_152327.5(AK7):c.498C>A (p.Pro166=) | not provided [RCV003823724] | uncertain significance | 14 | 96408941 | 96408941 | Human | | name |
| 405227291 | CV3169490 | single nucleotide variant | NM_152327.5(AK7):c.648C>T (p.Leu216=) | not provided [RCV003864514] | likely benign | 14 | 96437873 | 96437873 | Human | | name |
| 402471039 | CV3171471 | single nucleotide variant | NM_152327.5(AK7):c.477G>A (p.Ala159=) | not provided [RCV003874255] | likely benign | 14 | 96408920 | 96408920 | Human | | name |
| 597867508 | CV3739088 | single nucleotide variant | NM_152327.5(AK7):c.453A>G (p.Leu151=) | not provided [RCV005068155] | likely benign | 14 | 96408896 | 96408896 | Human | | name |
| 597884762 | CV3745487 | single nucleotide variant | NM_152327.5(AK7):c.732C>T (p.Gly244=) | not provided [RCV005070323] | likely benign | 14 | 96442771 | 96442771 | Human | | name |
| 597918786 | CV3842510 | single nucleotide variant | NM_152327.5(AK7):c.873T>C (p.Cys291=) | not provided [RCV005183995] | likely benign | 14 | 96449804 | 96449804 | Human | | name |
| 151814033 | CV1366511 | single nucleotide variant | NM_152327.5(AK7):c.223A>C (p.Thr75Pro) | not provided [RCV001933487]|not specified [RCV004917747] | uncertain significance | 14 | 96398192 | 96398192 | Human | | name |
| 151859300 | CV1398422 | single nucleotide variant | NM_152327.5(AK7):c.265C>T (p.Arg89Trp) | not provided [RCV002017558] | uncertain significance | 14 | 96398234 | 96398234 | Human | | name |
| 151887921 | CV1434285 | single nucleotide variant | NM_152327.5(AK7):c.286A>G (p.Thr96Ala) | not provided [RCV001887857] | uncertain significance | 14 | 96398255 | 96398255 | Human | | name |
| 151860585 | CV1438548 | single nucleotide variant | NM_152327.5(AK7):c.266G>A (p.Arg89Gln) | not provided [RCV001923944]|not specified [RCV004616880] | likely benign|uncertain significance | 14 | 96398235 | 96398235 | Human | | name |
| 152115686 | CV1526263 | single nucleotide variant | NM_152327.5(AK7):c.1257G>A (p.Gly419=) | not provided [RCV002174895] | likely benign | 14 | 96458112 | 96458112 | Human | | name |
| 152064032 | CV1535721 | single nucleotide variant | NM_152327.5(AK7):c.1521C>A (p.Gly507=) | not provided [RCV002168376] | likely benign | 14 | 96472721 | 96472721 | Human | | name |
| 152071610 | CV1544378 | single nucleotide variant | NM_152327.5(AK7):c.1632G>A (p.Ala544=) | not provided [RCV002129686] | benign | 14 | 96478541 | 96478541 | Human | | name |
| 152104436 | CV1544691 | single nucleotide variant | NM_152327.5(AK7):c.1368C>T (p.Asp456=) | not provided [RCV002115762] | benign | 14 | 96471488 | 96471488 | Human | | name |
| 152039046 | CV1555105 | single nucleotide variant | NM_152327.5(AK7):c.1743G>A (p.Pro581=) | not provided [RCV002107462] | benign | 14 | 96478652 | 96478652 | Human | | name |
| 152074205 | CV1556818 | single nucleotide variant | NM_152327.5(AK7):c.1626C>T (p.Ile542=) | not provided [RCV002111871] | likely benign | 14 | 96478535 | 96478535 | Human | | name |
| 152105476 | CV1574986 | single nucleotide variant | NM_152327.5(AK7):c.1476C>T (p.Asp492=) | not provided [RCV002096100] | likely benign | 14 | 96471596 | 96471596 | Human | | name |
| 152170600 | CV1592501 | single nucleotide variant | NM_152327.5(AK7):c.1311A>G (p.Ala437=) | not provided [RCV002161827] | benign | 14 | 96458166 | 96458166 | Human | | name |
| 152106751 | CV1609690 | single nucleotide variant | NM_152327.5(AK7):c.1071G>A (p.Lys357=) | not provided [RCV002116024] | benign | 14 | 96451543 | 96451543 | Human | | name |
| 152115343 | CV1628207 | single nucleotide variant | NM_152327.5(AK7):c.1845C>T (p.Asp615=) | AK7-related disorder [RCV003911252]|not provided [RCV002197324] | likely benign | 14 | 96483090 | 96483090 | Human | 1 | name , trait , alternate_id |
| 156324310 | CV1871029 | single nucleotide variant | NM_152327.5(AK7):c.2103C>T (p.Asn701=) | not provided [RCV003063294] | likely benign | 14 | 96487026 | 96487026 | Human | | name |
| 156099371 | CV1896704 | single nucleotide variant | NM_152327.5(AK7):c.285G>C (p.Glu95Asp) | not provided [RCV003080541]|not specified [RCV004073274] | uncertain significance | 14 | 96398254 | 96398254 | Human | | name |
| 156322311 | CV1897952 | single nucleotide variant | NM_152327.5(AK7):c.1248C>T (p.Asn416=) | not provided [RCV002579329] | likely benign | 14 | 96458103 | 96458103 | Human | | name |
| 156375099 | CV1899311 | single nucleotide variant | NM_152327.5(AK7):c.2112C>T (p.Pro704=) | not provided [RCV003092795] | likely benign | 14 | 96487035 | 96487035 | Human | | name |
| 156371862 | CV1901464 | single nucleotide variant | NM_152327.5(AK7):c.205A>T (p.Thr69Ser) | not provided [RCV002582479] | uncertain significance | 14 | 96398174 | 96398174 | Human | | name |
| 156296000 | CV1904711 | single nucleotide variant | NM_152327.5(AK7):c.242C>T (p.Thr81Met) | not provided [RCV002588038]|not specified [RCV004073402] | uncertain significance | 14 | 96398211 | 96398211 | Human | | name |
| 155939090 | CV1913432 | single nucleotide variant | NM_152327.5(AK7):c.1225C>T (p.Leu409=) | not provided [RCV002615510] | likely benign | 14 | 96456473 | 96456473 | Human | | name |
| 156200790 | CV1916759 | single nucleotide variant | NM_152327.5(AK7):c.1581G>T (p.Ser527=) | not provided [RCV002595695] | likely benign | 14 | 96478490 | 96478490 | Human | | name |
| 155949904 | CV1921877 | single nucleotide variant | NM_152327.5(AK7):c.1068C>T (p.Leu356=) | not provided [RCV002616166] | likely benign | 14 | 96451540 | 96451540 | Human | | name |
| 156180807 | CV1953457 | single nucleotide variant | NM_152327.5(AK7):c.100G>A (p.Gly34Arg) | not provided [RCV002574107] | uncertain significance | 14 | 96392254 | 96392254 | Human | | name |
| 156155089 | CV1987658 | single nucleotide variant | NM_152327.5(AK7):c.1233G>A (p.Ala411=) | not provided [RCV002642204] | uncertain significance | 14 | 96458088 | 96458088 | Human | | name |
| 156390708 | CV1998825 | single nucleotide variant | NM_152327.5(AK7):c.1905T>G (p.Ala635=) | not provided [RCV002680734] | likely benign | 14 | 96483150 | 96483150 | Human | | name |
| 156260402 | CV2049495 | single nucleotide variant | NM_152327.5(AK7):c.1617T>C (p.Pro539=) | not provided [RCV002806307] | likely benign | 14 | 96478526 | 96478526 | Human | | name |
| 156100299 | CV2099238 | single nucleotide variant | NM_152327.5(AK7):c.1452A>G (p.Pro484=) | AK7-related disorder [RCV003943538]|not provided [RCV002913377] | benign|likely benign | 14 | 96471572 | 96471572 | Human | 1 | name , trait , alternate_id |
| 156293565 | CV2111534 | single nucleotide variant | NM_152327.5(AK7):c.2058C>T (p.Thr686=) | not provided [RCV002922254] | likely benign | 14 | 96486981 | 96486981 | Human | | name |
| 156144058 | CV2122581 | single nucleotide variant | NM_152327.5(AK7):c.1698C>T (p.Asp566=) | AK7-related disorder [RCV003943648]|not provided [RCV002954334] | likely benign | 14 | 96478607 | 96478607 | Human | 1 | name , trait , alternate_id |
| 156171548 | CV2312587 | single nucleotide variant | NM_152327.5(AK7):c.212T>G (p.Val71Gly) | not provided [RCV003777952]|not specified [RCV004169327] | uncertain significance | 14 | 96398181 | 96398181 | Human | | name |
| 329384901 | CV2454512 | single nucleotide variant | NM_152327.5(AK7):c.295G>C (p.Ala99Pro) | not specified [RCV004268004] | uncertain significance | 14 | 96404757 | 96404757 | Human | | name |
| 405146640 | CV2881498 | single nucleotide variant | NM_152327.5(AK7):c.1605G>A (p.Val535=) | not provided [RCV003561400] | likely benign | 14 | 96478514 | 96478514 | Human | | name |
| 405184123 | CV2920226 | single nucleotide variant | NM_152327.5(AK7):c.1905T>C (p.Ala635=) | not provided [RCV003564207] | likely benign | 14 | 96483150 | 96483150 | Human | | name |
| 405139834 | CV3045872 | single nucleotide variant | NM_152327.5(AK7):c.1695C>T (p.Ile565=) | AK7-related disorder [RCV003901321]|not provided [RCV003725551] | likely benign | 14 | 96478604 | 96478604 | Human | 1 | name , trait , alternate_id |
| 405133833 | CV3051826 | single nucleotide variant | NM_152327.5(AK7):c.1800G>A (p.Gln600=) | not provided [RCV003725065] | likely benign | 14 | 96483045 | 96483045 | Human | | name |
| 405200353 | CV3056617 | single nucleotide variant | NM_152327.5(AK7):c.1875T>C (p.Ala625=) | not provided [RCV003730596] | likely benign | 14 | 96483120 | 96483120 | Human | | name |
| 405194530 | CV3062838 | single nucleotide variant | NM_152327.5(AK7):c.1104C>T (p.Ile368=) | not provided [RCV003730046] | likely benign | 14 | 96456352 | 96456352 | Human | | name |
| 405144934 | CV3122693 | single nucleotide variant | NM_152327.5(AK7):c.1275C>T (p.Val425=) | not provided [RCV003817115] | likely benign | 14 | 96458130 | 96458130 | Human | | name |
| 405111843 | CV3137355 | single nucleotide variant | NM_152327.5(AK7):c.1962C>T (p.Arg654=) | not provided [RCV003836318] | likely benign | 14 | 96483207 | 96483207 | Human | | name |
| 405064699 | CV3139731 | single nucleotide variant | NM_152327.5(AK7):c.1869G>C (p.Arg623=) | not provided [RCV003833078] | likely benign | 14 | 96483114 | 96483114 | Human | | name |
| 405105727 | CV3139936 | single nucleotide variant | NM_152327.5(AK7):c.2070A>G (p.Pro690=) | not provided [RCV003835347] | likely benign | 14 | 96486993 | 96486993 | Human | | name |
| 405223664 | CV3158453 | single nucleotide variant | NM_152327.5(AK7):c.287C>T (p.Thr96Met) | not provided [RCV003863949] | uncertain significance | 14 | 96398256 | 96398256 | Human | | name |
| 405214952 | CV3160642 | single nucleotide variant | NM_152327.5(AK7):c.1701T>C (p.Asp567=) | not provided [RCV003862704] | likely benign | 14 | 96478610 | 96478610 | Human | | name |
| 405128836 | CV3163226 | single nucleotide variant | NM_152327.5(AK7):c.278C>T (p.Ala93Val) | not provided [RCV003854407] | uncertain significance | 14 | 96398247 | 96398247 | Human | | name |
| 402522778 | CV3175762 | single nucleotide variant | NM_152327.5(AK7):c.287C>G (p.Thr96Arg) | not provided [RCV003879862] | uncertain significance | 14 | 96398256 | 96398256 | Human | | name |
| 402512105 | CV3178435 | single nucleotide variant | NM_152327.5(AK7):c.277G>A (p.Ala93Thr) | not provided [RCV003879052] | uncertain significance | 14 | 96398246 | 96398246 | Human | | name |
| 405707662 | CV3225409 | single nucleotide variant | NM_152327.5(AK7):c.289T>C (p.Tyr97His) | Spermatogenic failure 27 [RCV003990463] | uncertain significance | 14 | 96398258 | 96398258 | Human | 1 | name |
| 405775106 | CV3273456 | single nucleotide variant | NM_152327.5(AK7):c.248C>G (p.Ser83Cys) | not specified [RCV004396620] | uncertain significance | 14 | 96398217 | 96398217 | Human | | name |
| 597967850 | CV3752120 | single nucleotide variant | NM_152327.5(AK7):c.1920C>T (p.Arg640=) | not provided [RCV005083314] | likely benign | 14 | 96483165 | 96483165 | Human | | name |
| 597956015 | CV3754521 | single nucleotide variant | NM_152327.5(AK7):c.1560C>T (p.Phe520=) | not provided [RCV005080371] | likely benign | 14 | 96478469 | 96478469 | Human | | name |
| 597847741 | CV3762079 | single nucleotide variant | NM_152327.5(AK7):c.1530T>C (p.Phe510=) | not provided [RCV005087497] | likely benign | 14 | 96472730 | 96472730 | Human | | name |
| 597947945 | CV3800830 | single nucleotide variant | NM_152327.5(AK7):c.1581G>A (p.Ser527=) | not provided [RCV005135230] | likely benign | 14 | 96478490 | 96478490 | Human | | name |
| 597959627 | CV3811423 | single nucleotide variant | NM_152327.5(AK7):c.1512T>C (p.Asp504=) | not provided [RCV005163269] | likely benign | 14 | 96472712 | 96472712 | Human | | name |
| 597973671 | CV3820643 | single nucleotide variant | NM_152327.5(AK7):c.1644C>T (p.Tyr548=) | not provided [RCV005168160] | likely benign | 14 | 96478553 | 96478553 | Human | | name |
| 597900339 | CV3835362 | single nucleotide variant | NM_152327.5(AK7):c.185C>T (p.Ala62Val) | not provided [RCV005181085] | uncertain significance | 14 | 96398154 | 96398154 | Human | | name |
| 597957799 | CV3848954 | single nucleotide variant | NM_152327.5(AK7):c.1062T>C (p.Thr354=) | not provided [RCV005191955] | likely benign | 14 | 96451534 | 96451534 | Human | | name |
| 8635362 | CV90584 | single nucleotide variant | NM_152327.3(AK7):c.2145C>T (p.Leu715=) | Malignant melanoma [RCV000070682] | not provided | 14 | 96488316 | 96488316 | Human | | name |
| 151760676 | CV1358024 | single nucleotide variant | NM_152327.5(AK7):c.805G>A (p.Val269Met) | not provided [RCV001928473] | uncertain significance | 14 | 96446542 | 96446542 | Human | | name |
| 151778318 | CV1380041 | single nucleotide variant | NM_152327.5(AK7):c.455T>C (p.Leu152Pro) | AK7-related disorder [RCV003968662]|not provided [RCV001950823] | likely benign | 14 | 96408898 | 96408898 | Human | 1 | name , trait , alternate_id |
| 151876486 | CV1461402 | single nucleotide variant | NM_152327.5(AK7):c.310G>T (p.Asp104Tyr) | not provided [RCV001925880]|not specified [RCV004043388] | uncertain significance | 14 | 96404772 | 96404772 | Human | | name |
| 151734646 | CV1508721 | single nucleotide variant | NM_152327.5(AK7):c.818A>G (p.His273Arg) | not provided [RCV002021659] | uncertain significance | 14 | 96446555 | 96446555 | Human | | name |
| 152159324 | CV1621141 | single nucleotide variant | NM_152327.5(AK7):c.659C>T (p.Ala220Val) | not provided [RCV002203161] | likely benign | 14 | 96437884 | 96437884 | Human | | name |
| 156412386 | CV1890548 | single nucleotide variant | NM_152327.5(AK7):c.458C>T (p.Ser153Leu) | not provided [RCV003072871] | uncertain significance | 14 | 96408901 | 96408901 | Human | | name |
| 156356456 | CV1926916 | single nucleotide variant | NM_152327.5(AK7):c.992C>T (p.Ala331Val) | not provided [RCV002651318] | uncertain significance | 14 | 96451464 | 96451464 | Human | | name |
| 156304870 | CV1931253 | single nucleotide variant | NM_152327.5(AK7):c.596A>G (p.Lys199Arg) | not provided [RCV002647834] | uncertain significance | 14 | 96420919 | 96420919 | Human | | name |
| 156442201 | CV1938186 | single nucleotide variant | NM_152327.5(AK7):c.631G>A (p.Val211Ile) | not provided [RCV003112540]|not specified [RCV004244635] | uncertain significance | 14 | 96437856 | 96437856 | Human | | name |
| 156164633 | CV1986138 | single nucleotide variant | NM_152327.5(AK7):c.304C>T (p.Arg102Ter) | not provided [RCV002642532] | uncertain significance | 14 | 96404766 | 96404766 | Human | | name |
| 156110579 | CV1996996 | single nucleotide variant | NM_152327.5(AK7):c.568C>T (p.His190Tyr) | not provided [RCV002662472] | uncertain significance | 14 | 96420891 | 96420891 | Human | | name |
| 156372576 | CV2003574 | single nucleotide variant | NM_152327.5(AK7):c.341T>A (p.Val114Asp) | not provided [RCV002653025] | uncertain significance | 14 | 96404803 | 96404803 | Human | | name |
| 156127646 | CV2005526 | single nucleotide variant | NM_152327.5(AK7):c.364A>C (p.Ser122Arg) | not provided [RCV002663098]|not specified [RCV004917795] | uncertain significance | 14 | 96404826 | 96404826 | Human | | name |
| 156322202 | CV2014649 | single nucleotide variant | NM_152327.5(AK7):c.535C>T (p.Arg179Ter) | not provided [RCV002672276] | uncertain significance | 14 | 96420858 | 96420858 | Human | | name |
| 155979288 | CV2028742 | single nucleotide variant | NM_152327.5(AK7):c.665G>A (p.Gly222Glu) | not provided [RCV002755251] | uncertain significance | 14 | 96437890 | 96437890 | Human | | name |
| 156340344 | CV2055337 | single nucleotide variant | NM_152327.5(AK7):c.776C>T (p.Ala259Val) | not provided [RCV002811164] | uncertain significance | 14 | 96442815 | 96442815 | Human | | name |
| 156255832 | CV2060659 | single nucleotide variant | NM_152327.5(AK7):c.722C>T (p.Pro241Leu) | not provided [RCV002791848] | uncertain significance | 14 | 96442761 | 96442761 | Human | | name |
| 155968019 | CV2082893 | single nucleotide variant | NM_152327.5(AK7):c.310G>C (p.Asp104His) | not provided [RCV002881350] | uncertain significance | 14 | 96404772 | 96404772 | Human | | name |
| 156246792 | CV2119570 | single nucleotide variant | NM_152327.5(AK7):c.323G>T (p.Arg108Leu) | not provided [RCV002959063] | uncertain significance | 14 | 96404785 | 96404785 | Human | | name |
| 156039552 | CV2121364 | single nucleotide variant | NM_152327.5(AK7):c.712C>G (p.Pro238Ala) | not provided [RCV002923858] | uncertain significance | 14 | 96442751 | 96442751 | Human | | name |
| 155913677 | CV2149582 | single nucleotide variant | NM_152327.5(AK7):c.638C>G (p.Ala213Gly) | not provided [RCV003012440] | uncertain significance | 14 | 96437863 | 96437863 | Human | | name |
| 156303098 | CV2156678 | single nucleotide variant | NM_152327.5(AK7):c.802C>T (p.His268Tyr) | not provided [RCV003010480] | uncertain significance | 14 | 96446539 | 96446539 | Human | | name |
| 156253035 | CV2232471 | single nucleotide variant | NM_152327.5(AK7):c.793G>T (p.Val265Phe) | not specified [RCV004099083] | uncertain significance | 14 | 96446530 | 96446530 | Human | | name |
| 155970525 | CV2392257 | single nucleotide variant | NM_152327.5(AK7):c.796A>G (p.Ile266Val) | not specified [RCV004243866] | uncertain significance | 14 | 96446533 | 96446533 | Human | | name |
| 329361299 | CV2459599 | single nucleotide variant | NM_152327.5(AK7):c.733G>A (p.Asp245Asn) | not specified [RCV004277046] | uncertain significance | 14 | 96442772 | 96442772 | Human | | name |
| 329353354 | CV2468988 | single nucleotide variant | NM_152327.5(AK7):c.929A>G (p.Tyr310Cys) | not specified [RCV004274251] | uncertain significance | 14 | 96449860 | 96449860 | Human | | name |
| 401721897 | CV2680730 | single nucleotide variant | NM_152327.5(AK7):c.323G>A (p.Arg108His) | not provided [RCV003549035]|not specified [RCV004291339] | uncertain significance | 14 | 96404785 | 96404785 | Human | | name |
| 401773053 | CV2709097 | single nucleotide variant | NM_152327.5(AK7):c.447T>G (p.Phe149Leu) | not specified [RCV004314432] | uncertain significance | 14 | 96408890 | 96408890 | Human | | name |
| 401751355 | CV2716363 | single nucleotide variant | NM_152327.5(AK7):c.584A>T (p.Lys195Ile) | not specified [RCV004325358] | uncertain significance | 14 | 96420907 | 96420907 | Human | | name |
| 402487751 | CV2928402 | single nucleotide variant | NM_152327.5(AK7):c.517T>C (p.Phe173Leu) | not provided [RCV003572590] | uncertain significance | 14 | 96420840 | 96420840 | Human | | name |
| 405081697 | CV2941889 | single nucleotide variant | NM_152327.5(AK7):c.436C>T (p.Arg146Ter) | not provided [RCV003664665] | uncertain significance | 14 | 96408879 | 96408879 | Human | | name |
| 402512889 | CV2948413 | single nucleotide variant | NM_152327.5(AK7):c.377T>G (p.Met126Arg) | not provided [RCV003662644] | uncertain significance | 14 | 96404839 | 96404839 | Human | | name |
| 402490960 | CV2949068 | single nucleotide variant | NM_152327.5(AK7):c.952G>A (p.Asp318Asn) | not provided [RCV003660541] | uncertain significance | 14 | 96451424 | 96451424 | Human | | name |
| 405152436 | CV2950467 | single nucleotide variant | NM_152327.5(AK7):c.866T>G (p.Val289Gly) | not provided [RCV003670126] | uncertain significance | 14 | 96446603 | 96446603 | Human | | name |
| 405152104 | CV2957019 | single nucleotide variant | NM_152327.5(AK7):c.986T>C (p.Met329Thr) | not provided [RCV003670035] | uncertain significance | 14 | 96451458 | 96451458 | Human | | name |
| 405194905 | CV2985949 | single nucleotide variant | NM_152327.5(AK7):c.334T>G (p.Cys112Gly) | not provided [RCV003706754] | uncertain significance | 14 | 96404796 | 96404796 | Human | | name |
| 405092193 | CV3044779 | single nucleotide variant | NM_152327.5(AK7):c.670A>G (p.Met224Val) | not provided [RCV003717786] | uncertain significance | 14 | 96437895 | 96437895 | Human | | name |
| 405251639 | CV3046197 | single nucleotide variant | NM_152327.5(AK7):c.706G>A (p.Glu236Lys) | not provided [RCV003721959] | uncertain significance | 14 | 96442745 | 96442745 | Human | | name |
| 405147835 | CV3067444 | single nucleotide variant | NM_152327.5(AK7):c.668G>A (p.Gly223Asp) | not provided [RCV003726193] | uncertain significance | 14 | 96437893 | 96437893 | Human | | name |
| 405073266 | CV3145485 | single nucleotide variant | NM_152327.5(AK7):c.957T>A (p.Cys319Ter) | not provided [RCV003851070] | uncertain significance | 14 | 96451429 | 96451429 | Human | | name |
| 405211596 | CV3146371 | single nucleotide variant | NM_152327.5(AK7):c.917G>C (p.Arg306Thr) | not provided [RCV003845902] | uncertain significance | 14 | 96449848 | 96449848 | Human | | name |
| 405204302 | CV3165523 | single nucleotide variant | NM_152327.5(AK7):c.973G>T (p.Val325Phe) | not provided [RCV003861189] | uncertain significance | 14 | 96451445 | 96451445 | Human | | name |
| 405241935 | CV3173216 | single nucleotide variant | NM_152327.5(AK7):c.548C>T (p.Ser183Phe) | not provided [RCV003867501] | uncertain significance | 14 | 96420871 | 96420871 | Human | | name |
| 405775346 | CV3273497 | single nucleotide variant | NM_152327.5(AK7):c.457T>C (p.Ser153Pro) | not specified [RCV004396661] | uncertain significance | 14 | 96408900 | 96408900 | Human | | name |
| 405775431 | CV3273511 | single nucleotide variant | NM_152327.5(AK7):c.611C>T (p.Ala204Val) | not specified [RCV004396675] | likely benign | 14 | 96437836 | 96437836 | Human | | name |
| 407495425 | CV3443104 | single nucleotide variant | NM_152327.5(AK7):c.950A>C (p.Gln317Pro) | not specified [RCV004621596] | uncertain significance | 14 | 96451422 | 96451422 | Human | | name |
| 597883069 | CV3764304 | single nucleotide variant | NM_152327.5(AK7):c.437G>A (p.Arg146Gln) | not provided [RCV005109522] | uncertain significance | 14 | 96408880 | 96408880 | Human | | name |
| 597926490 | CV3783316 | single nucleotide variant | NM_152327.5(AK7):c.419T>C (p.Val140Ala) | not provided [RCV005116002] | uncertain significance | 14 | 96408862 | 96408862 | Human | | name |
| 597952949 | CV3843870 | single nucleotide variant | NM_152327.5(AK7):c.634G>T (p.Val212Phe) | not provided [RCV005190732] | uncertain significance | 14 | 96437859 | 96437859 | Human | | name |
| 597953171 | CV3843921 | single nucleotide variant | NM_152327.5(AK7):c.863T>C (p.Ile288Thr) | not provided [RCV005190783] | uncertain significance | 14 | 96446600 | 96446600 | Human | | name |
| 598125094 | CV3883804 | duplication | NM_152327.5(AK7):c.1020dup (p.Arg341fs) | not provided [RCV005236159] | uncertain significance | 14 | 96451490 | 96451491 | Human | | name |
| 12896586 | CV390118 | single nucleotide variant | NM_152327.5(AK7):c.305G>A (p.Arg102Gln) | not provided [RCV002056681]|not specified [RCV000455552] | benign | 14 | 96404767 | 96404767 | Human | | name |
| 598212010 | CV3965590 | single nucleotide variant | NM_152327.5(AK7):c.956G>A (p.Cys319Tyr) | not specified [RCV005339015] | uncertain significance | 14 | 96451428 | 96451428 | Human | | name |
| 8654980 | CV75615 | duplication | NM_152327.5(AK7):c.1171dup (p.Tyr391fs) | Primary ciliary dyskinesia [RCV000054831] | uncertain significance | 14 | 96456418 | 96456419 | Human | 1 | name |
| 8635361 | CV90583 | single nucleotide variant | NM_152327.3(AK7):c.602G>A (p.Gly201Glu) | Malignant melanoma [RCV000070681] | not provided | 14 | 96420925 | 96420925 | Human | | name |
| 151747864 | CV1345473 | single nucleotide variant | NM_152327.5(AK7):c.2104G>A (p.Val702Ile) | not provided [RCV001893997] | uncertain significance | 14 | 96487027 | 96487027 | Human | | name |
| 151836175 | CV1351144 | single nucleotide variant | NM_152327.5(AK7):c.1460A>G (p.Tyr487Cys) | not provided [RCV002014811]|not specified [RCV004043961] | uncertain significance | 14 | 96471580 | 96471580 | Human | | name |
| 151751960 | CV1357509 | single nucleotide variant | NM_152327.5(AK7):c.1997A>G (p.Lys666Arg) | not provided [RCV001894423] | uncertain significance | 14 | 96486920 | 96486920 | Human | | name |
| 151833795 | CV1396415 | single nucleotide variant | NM_152327.5(AK7):c.1165A>G (p.Asn389Asp) | not provided [RCV001902072] | uncertain significance | 14 | 96456413 | 96456413 | Human | | name |
| 151767241 | CV1415083 | single nucleotide variant | NM_152327.5(AK7):c.1727A>G (p.Glu576Gly) | not provided [RCV001929170] | uncertain significance | 14 | 96478636 | 96478636 | Human | | name |
| 151800029 | CV1417569 | single nucleotide variant | NM_152327.5(AK7):c.1657T>A (p.Phe553Ile) | not provided [RCV002047897]|not specified [RCV004046132] | uncertain significance | 14 | 96478566 | 96478566 | Human | | name |
| 151752143 | CV1426828 | single nucleotide variant | NM_152327.5(AK7):c.1385G>C (p.Arg462Thr) | not provided [RCV002006970] | uncertain significance | 14 | 96471505 | 96471505 | Human | | name |
| 151884700 | CV1432683 | single nucleotide variant | NM_152327.5(AK7):c.2024C>T (p.Ala675Val) | not provided [RCV002000330]|not specified [RCV004042423] | uncertain significance | 14 | 96486947 | 96486947 | Human | | name |
| 151769603 | CV1451012 | single nucleotide variant | NM_152327.5(AK7):c.1198G>A (p.Asp400Asn) | not provided [RCV001929386] | uncertain significance | 14 | 96456446 | 96456446 | Human | | name |
| 151757456 | CV1475079 | single nucleotide variant | NM_152327.5(AK7):c.1565G>A (p.Cys522Tyr) | not provided [RCV001969811] | uncertain significance | 14 | 96478474 | 96478474 | Human | | name |
| 151710236 | CV1487230 | single nucleotide variant | NM_152327.5(AK7):c.1123C>T (p.Pro375Ser) | not provided [RCV001889219] | uncertain significance | 14 | 96456371 | 96456371 | Human | | name |
| 151785555 | CV1499196 | single nucleotide variant | NM_152327.5(AK7):c.1696G>A (p.Asp566Asn) | not provided [RCV002026677] | uncertain significance | 14 | 96478605 | 96478605 | Human | | name |
| 152046780 | CV1527231 | single nucleotide variant | NM_152327.5(AK7):c.1561G>A (p.Val521Ile) | not provided [RCV002166365] | likely benign | 14 | 96478470 | 96478470 | Human | | name |
| 152118542 | CV1540371 | single nucleotide variant | NM_152327.5(AK7):c.1078A>G (p.Lys360Glu) | AK7-related disorder [RCV003913651]|not provided [RCV002097829] | benign|likely benign | 14 | 96451550 | 96451550 | Human | 1 | name , trait , alternate_id |
| 152087289 | CV1589969 | single nucleotide variant | NM_152327.5(AK7):c.1936G>A (p.Val646Met) | not provided [RCV002193801] | likely benign | 14 | 96483181 | 96483181 | Human | | name |
| 156417666 | CV1909946 | single nucleotide variant | NM_152327.5(AK7):c.2075T>G (p.Leu692Arg) | not provided [RCV002610839] | uncertain significance | 14 | 96486998 | 96486998 | Human | | name |
| 156405318 | CV1913043 | single nucleotide variant | NM_152327.5(AK7):c.1845C>A (p.Asp615Glu) | not provided [RCV002606302] | uncertain significance | 14 | 96483090 | 96483090 | Human | | name |
| 156205034 | CV1922679 | single nucleotide variant | NM_152327.5(AK7):c.1709T>C (p.Val570Ala) | not provided [RCV002643776] | uncertain significance | 14 | 96478618 | 96478618 | Human | | name |
| 156419429 | CV1932879 | single nucleotide variant | NM_152327.5(AK7):c.1340G>T (p.Ser447Ile) | not provided [RCV002612663] | uncertain significance | 14 | 96458195 | 96458195 | Human | | name |
| 156032038 | CV1940905 | single nucleotide variant | NM_152327.5(AK7):c.1022G>A (p.Arg341Gln) | not provided [RCV003111690]|not specified [RCV004135029] | uncertain significance | 14 | 96451494 | 96451494 | Human | | name |
| 156191532 | CV1945334 | single nucleotide variant | NM_152327.5(AK7):c.1886G>A (p.Arg629Gln) | not provided [RCV003111742]|not specified [RCV004204247] | uncertain significance | 14 | 96483131 | 96483131 | Human | | name |
| 156442728 | CV1948837 | single nucleotide variant | NM_152327.5(AK7):c.1699G>A (p.Asp567Asn) | not provided [RCV003113080]|not specified [RCV004917837] | uncertain significance | 14 | 96478608 | 96478608 | Human | | name |
| 156116348 | CV1952377 | single nucleotide variant | NM_152327.5(AK7):c.1369G>A (p.Asp457Asn) | not provided [RCV002571688] | uncertain significance | 14 | 96471489 | 96471489 | Human | | name |
| 156087245 | CV1953291 | single nucleotide variant | NM_152327.5(AK7):c.1640A>G (p.His547Arg) | not provided [RCV002570101] | uncertain significance | 14 | 96478549 | 96478549 | Human | | name |
| 156138187 | CV1963024 | single nucleotide variant | NM_152327.5(AK7):c.1276G>A (p.Glu426Lys) | not provided [RCV002572473] | uncertain significance | 14 | 96458131 | 96458131 | Human | | name |
| 156344488 | CV1970435 | single nucleotide variant | NM_152327.5(AK7):c.1627G>A (p.Val543Met) | not provided [RCV002601456]|not specified [RCV004065641] | uncertain significance | 14 | 96478536 | 96478536 | Human | | name |
| 156321815 | CV1976166 | single nucleotide variant | NM_152327.5(AK7):c.1186A>G (p.Ile396Val) | not provided [RCV002600281] | uncertain significance | 14 | 96456434 | 96456434 | Human | | name |
| 156330145 | CV1992737 | single nucleotide variant | NM_152327.5(AK7):c.1016A>G (p.Asn339Ser) | not provided [RCV002649773] | uncertain significance | 14 | 96451488 | 96451488 | Human | | name |
| 156101762 | CV2001119 | single nucleotide variant | NM_152327.5(AK7):c.1451C>T (p.Pro484Leu) | not provided [RCV002639609] | uncertain significance | 14 | 96471571 | 96471571 | Human | | name |
| 156226255 | CV2009490 | single nucleotide variant | NM_152327.5(AK7):c.1075T>C (p.Tyr359His) | not provided [RCV002701193] | uncertain significance | 14 | 96451547 | 96451547 | Human | | name |
| 156080848 | CV2011991 | single nucleotide variant | NM_152327.5(AK7):c.1061C>T (p.Thr354Ile) | not provided [RCV002705985] | uncertain significance | 14 | 96451533 | 96451533 | Human | | name |
| 156286444 | CV2012819 | single nucleotide variant | NM_152327.5(AK7):c.2095T>A (p.Cys699Ser) | not provided [RCV002715480] | uncertain significance | 14 | 96487018 | 96487018 | Human | | name |
| 155907332 | CV2027692 | single nucleotide variant | NM_152327.5(AK7):c.1144A>G (p.Ser382Gly) | not provided [RCV002726553] | uncertain significance | 14 | 96456392 | 96456392 | Human | | name |
| 156208088 | CV2042386 | single nucleotide variant | NM_152327.5(AK7):c.1040G>A (p.Gly347Glu) | not provided [RCV002766494] | uncertain significance | 14 | 96451512 | 96451512 | Human | | name |
| 156175854 | CV2052028 | single nucleotide variant | NM_152327.5(AK7):c.1825C>G (p.Arg609Gly) | not provided [RCV002828141] | uncertain significance | 14 | 96483070 | 96483070 | Human | | name |
| 156108331 | CV2072464 | single nucleotide variant | NM_152327.5(AK7):c.1216A>C (p.Ile406Leu) | not provided [RCV002870798] | uncertain significance | 14 | 96456464 | 96456464 | Human | | name |
| 155949996 | CV2084286 | single nucleotide variant | NM_152327.5(AK7):c.1313A>T (p.Gln438Leu) | not provided [RCV002880445] | uncertain significance | 14 | 96458168 | 96458168 | Human | | name |
| 156247093 | CV2106328 | single nucleotide variant | NM_152327.5(AK7):c.1682G>A (p.Arg561Gln) | not provided [RCV002933411] | uncertain significance | 14 | 96478591 | 96478591 | Human | | name |
| 156215562 | CV2110927 | single nucleotide variant | NM_152327.5(AK7):c.1181A>G (p.His394Arg) | AK7-related disorder [RCV003906316]|not provided [RCV002932245] | benign | 14 | 96456429 | 96456429 | Human | 1 | name , trait , alternate_id |
| 156130227 | CV2125105 | single nucleotide variant | NM_152327.5(AK7):c.1846G>A (p.Glu616Lys) | not provided [RCV002953850] | likely benign | 14 | 96483091 | 96483091 | Human | | name |
| 156094493 | CV2135718 | single nucleotide variant | NM_152327.5(AK7):c.1249G>A (p.Asp417Asn) | not provided [RCV003001962]|not specified [RCV004065239] | uncertain significance | 14 | 96458104 | 96458104 | Human | | name |
| 155912274 | CV2141786 | single nucleotide variant | NM_152327.5(AK7):c.1826G>A (p.Arg609Gln) | not provided [RCV002968143] | uncertain significance | 14 | 96483071 | 96483071 | Human | | name |
| 156158115 | CV2147169 | single nucleotide variant | NM_152327.5(AK7):c.1627G>C (p.Val543Leu) | not provided [RCV003023090] | uncertain significance | 14 | 96478536 | 96478536 | Human | | name |
| 156243763 | CV2148902 | single nucleotide variant | NM_152327.5(AK7):c.1825C>T (p.Arg609Ter) | not provided [RCV003008195] | uncertain significance | 14 | 96483070 | 96483070 | Human | | name |
| 156130224 | CV2151923 | single nucleotide variant | NM_152327.5(AK7):c.2060A>G (p.Tyr687Cys) | not provided [RCV003003329] | uncertain significance | 14 | 96486983 | 96486983 | Human | | name |
| 156386898 | CV2221348 | single nucleotide variant | NM_152327.5(AK7):c.1651G>A (p.Asp551Asn) | not specified [RCV004095028] | uncertain significance | 14 | 96478560 | 96478560 | Human | | name |
| 155976027 | CV2235977 | single nucleotide variant | NM_152327.5(AK7):c.1327G>A (p.Gly443Ser) | not specified [RCV004113854] | uncertain significance | 14 | 96458182 | 96458182 | Human | | name |
| 155983375 | CV2240722 | single nucleotide variant | NM_152327.5(AK7):c.1918C>T (p.Arg640Cys) | not specified [RCV004119341] | uncertain significance | 14 | 96483163 | 96483163 | Human | | name |
| 155998284 | CV2287132 | single nucleotide variant | NM_152327.5(AK7):c.1702G>A (p.Glu568Lys) | not specified [RCV004144998] | uncertain significance | 14 | 96478611 | 96478611 | Human | | name |
| 156278845 | CV2297523 | single nucleotide variant | NM_152327.5(AK7):c.1580C>T (p.Ser527Leu) | not specified [RCV004153446] | uncertain significance | 14 | 96478489 | 96478489 | Human | | name |
| 155922880 | CV2347400 | single nucleotide variant | NM_152327.5(AK7):c.1729C>T (p.Leu577Phe) | not specified [RCV004207239] | uncertain significance | 14 | 96478638 | 96478638 | Human | | name |
| 155938237 | CV2380647 | single nucleotide variant | NM_152327.5(AK7):c.1682G>C (p.Arg561Pro) | not specified [RCV004218236] | uncertain significance | 14 | 96478591 | 96478591 | Human | | name |
| 329370836 | CV2435702 | single nucleotide variant | NM_152327.5(AK7):c.1418G>T (p.Cys473Phe) | not provided [RCV003730434]|not specified [RCV004254935] | uncertain significance | 14 | 96471538 | 96471538 | Human | | name |
| 329381064 | CV2464480 | single nucleotide variant | NM_152327.5(AK7):c.1474G>T (p.Asp492Tyr) | not specified [RCV004276401] | uncertain significance | 14 | 96471594 | 96471594 | Human | | name |
| 401739329 | CV2722107 | single nucleotide variant | NM_152327.5(AK7):c.1442A>G (p.Asp481Gly) | not specified [RCV004328367] | uncertain significance | 14 | 96471562 | 96471562 | Human | | name |
| 402525289 | CV2868251 | single nucleotide variant | NM_152327.5(AK7):c.1597G>A (p.Glu533Lys) | not provided [RCV003547961] | likely benign | 14 | 96478506 | 96478506 | Human | | name |
| 405067681 | CV2875547 | single nucleotide variant | NM_152327.5(AK7):c.2146T>C (p.Phe716Leu) | not provided [RCV003548339] | uncertain significance | 14 | 96488317 | 96488317 | Human | | name |
| 402504562 | CV2880106 | single nucleotide variant | NM_152327.5(AK7):c.1058A>C (p.Asn353Thr) | not provided [RCV003546239] | uncertain significance | 14 | 96451530 | 96451530 | Human | | name |
| 405209608 | CV2910213 | single nucleotide variant | NM_152327.5(AK7):c.1232C>G (p.Ala411Gly) | not provided [RCV003566974] | uncertain significance | 14 | 96458087 | 96458087 | Human | | name |
| 402465991 | CV2913821 | single nucleotide variant | NM_152327.5(AK7):c.1877C>T (p.Ala626Val) | not provided [RCV003569290]|not specified [RCV004917858] | uncertain significance | 14 | 96483122 | 96483122 | Human | | name |
| 402500689 | CV2923109 | single nucleotide variant | NM_152327.5(AK7):c.1364T>C (p.Leu455Pro) | not provided [RCV003573956] | uncertain significance | 14 | 96471484 | 96471484 | Human | | name |
| 405066795 | CV2936701 | single nucleotide variant | NM_152327.5(AK7):c.1273G>T (p.Val425Phe) | not provided [RCV003659172] | uncertain significance | 14 | 96458128 | 96458128 | Human | | name |
| 405100311 | CV2937944 | single nucleotide variant | NM_152327.5(AK7):c.1885C>T (p.Arg629Trp) | not provided [RCV003665720] | uncertain significance | 14 | 96483130 | 96483130 | Human | | name |
| 405101617 | CV2942016 | single nucleotide variant | NM_152327.5(AK7):c.1598A>T (p.Glu533Val) | not provided [RCV003666228] | uncertain significance | 14 | 96478507 | 96478507 | Human | | name |
| 404983535 | CV2989749 | single nucleotide variant | NM_152327.5(AK7):c.1513G>T (p.Val505Phe) | not provided [RCV003691561] | uncertain significance | 14 | 96472713 | 96472713 | Human | | name |
| 405206731 | CV2994371 | single nucleotide variant | NM_152327.5(AK7):c.1901C>T (p.Ala634Val) | not provided [RCV003678833] | uncertain significance | 14 | 96483146 | 96483146 | Human | | name |
| 405002967 | CV3016248 | single nucleotide variant | NM_152327.5(AK7):c.1252G>A (p.Val418Ile) | not provided [RCV003693350] | uncertain significance | 14 | 96458107 | 96458107 | Human | | name |
| 405235557 | CV3040924 | single nucleotide variant | NM_152327.5(AK7):c.1386A>T (p.Arg462Ser) | not provided [RCV003712293] | uncertain significance | 14 | 96471506 | 96471506 | Human | | name |
| 405253144 | CV3044306 | single nucleotide variant | NM_152327.5(AK7):c.1592T>C (p.Leu531Pro) | not provided [RCV003722439] | uncertain significance | 14 | 96478501 | 96478501 | Human | | name |
| 405246096 | CV3051784 | single nucleotide variant | NM_152327.5(AK7):c.1867C>T (p.Arg623Trp) | not provided [RCV003720460] | uncertain significance | 14 | 96483112 | 96483112 | Human | | name |
| 405185605 | CV3058580 | single nucleotide variant | NM_152327.5(AK7):c.1522A>G (p.Arg508Gly) | not provided [RCV003729234] | uncertain significance | 14 | 96472722 | 96472722 | Human | | name |
| 405202608 | CV3067091 | single nucleotide variant | NM_152327.5(AK7):c.1868G>A (p.Arg623Gln) | not provided [RCV003730929] | uncertain significance | 14 | 96483113 | 96483113 | Human | | name |
| 405190448 | CV3069839 | single nucleotide variant | NM_152327.5(AK7):c.1988A>G (p.Glu663Gly) | not provided [RCV003729671] | uncertain significance | 14 | 96486911 | 96486911 | Human | | name |
| 405191659 | CV3069995 | single nucleotide variant | NM_152327.5(AK7):c.1894A>G (p.Arg632Gly) | not provided [RCV003729777]|not specified [RCV004374249] | uncertain significance | 14 | 96483139 | 96483139 | Human | | name |
| 405134208 | CV3115558 | single nucleotide variant | NM_152327.5(AK7):c.1655G>A (p.Arg552Gln) | not provided [RCV003816215] | uncertain significance | 14 | 96478564 | 96478564 | Human | | name |
| 405104017 | CV3120065 | single nucleotide variant | NM_152327.5(AK7):c.1040G>T (p.Gly347Val) | not provided [RCV003812135] | uncertain significance | 14 | 96451512 | 96451512 | Human | | name |
| 405176072 | CV3123075 | single nucleotide variant | NM_152327.5(AK7):c.1000G>A (p.Val334Met) | not provided [RCV003819474] | uncertain significance | 14 | 96451472 | 96451472 | Human | | name |
| 405185442 | CV3124277 | single nucleotide variant | NM_152327.5(AK7):c.1681C>T (p.Arg561Trp) | not provided [RCV003820476] | uncertain significance | 14 | 96478590 | 96478590 | Human | | name |
| 405154264 | CV3135172 | single nucleotide variant | NM_152327.5(AK7):c.1899G>C (p.Glu633Asp) | not provided [RCV003840284] | uncertain significance | 14 | 96483144 | 96483144 | Human | | name |
| 405144788 | CV3141352 | single nucleotide variant | NM_152327.5(AK7):c.1300G>A (p.Val434Met) | not provided [RCV003839468] | uncertain significance | 14 | 96458155 | 96458155 | Human | | name |
| 405150286 | CV3142090 | single nucleotide variant | NM_152327.5(AK7):c.1990G>T (p.Glu664Ter) | not provided [RCV003840012] | uncertain significance | 14 | 96486913 | 96486913 | Human | | name |
| 405073285 | CV3145486 | single nucleotide variant | NM_152327.5(AK7):c.1008G>C (p.Glu336Asp) | not provided [RCV003851071] | uncertain significance | 14 | 96451480 | 96451480 | Human | | name |
| 405184674 | CV3159759 | single nucleotide variant | NM_152327.5(AK7):c.1877C>A (p.Ala626Glu) | not provided [RCV003859010] | uncertain significance | 14 | 96483122 | 96483122 | Human | | name |
| 405087500 | CV3167463 | single nucleotide variant | NM_152327.5(AK7):c.2059T>C (p.Tyr687His) | not provided [RCV003852045]|not specified [RCV005335952] | likely benign|uncertain significance | 14 | 96486982 | 96486982 | Human | | name |
| 405196560 | CV3168165 | single nucleotide variant | NM_152327.5(AK7):c.1748A>G (p.His583Arg) | not provided [RCV003860297] | uncertain significance | 14 | 96478657 | 96478657 | Human | | name |
| 402520153 | CV3179432 | single nucleotide variant | NM_152327.5(AK7):c.2091T>A (p.Asn697Lys) | not provided [RCV003879683] | uncertain significance | 14 | 96487014 | 96487014 | Human | | name |
| 405228844 | CV3180441 | single nucleotide variant | NM_152327.5(AK7):c.1255G>A (p.Gly419Arg) | not provided [RCV003864862]|not specified [RCV004621934] | uncertain significance | 14 | 96458110 | 96458110 | Human | | name |
| 404981744 | CV3183512 | single nucleotide variant | NM_152327.5(AK7):c.1742C>T (p.Pro581Leu) | not provided [RCV003880535] | uncertain significance | 14 | 96478651 | 96478651 | Human | | name |
| 405774224 | CV3273305 | single nucleotide variant | NM_152327.5(AK7):c.1008G>T (p.Glu336Asp) | not specified [RCV004396469] | uncertain significance | 14 | 96451480 | 96451480 | Human | | name |
| 405774364 | CV3273329 | single nucleotide variant | NM_152327.5(AK7):c.1418G>A (p.Cys473Tyr) | not specified [RCV004396493] | uncertain significance | 14 | 96471538 | 96471538 | Human | | name |
| 405774946 | CV3273430 | single nucleotide variant | NM_152327.5(AK7):c.1919G>T (p.Arg640Leu) | not specified [RCV004396594] | uncertain significance | 14 | 96483164 | 96483164 | Human | | name |
| 407495889 | CV3443070 | single nucleotide variant | NM_152327.5(AK7):c.1900G>C (p.Ala634Pro) | not specified [RCV004621562] | uncertain significance | 14 | 96483145 | 96483145 | Human | | name |
| 407495857 | CV3443079 | single nucleotide variant | NM_152327.5(AK7):c.1907A>C (p.Glu636Ala) | not specified [RCV004621571] | uncertain significance | 14 | 96483152 | 96483152 | Human | | name |
| 596925350 | CV3542029 | single nucleotide variant | NM_152327.5(AK7):c.1153A>T (p.Lys385Ter) | Spermatogenic failure 27 [RCV004795744] | uncertain significance | 14 | 96456401 | 96456401 | Human | 1 | name |
| 597697667 | CV3669008 | single nucleotide variant | NM_152327.5(AK7):c.1484A>G (p.Asn495Ser) | not specified [RCV004916015] | uncertain significance | 14 | 96471604 | 96471604 | Human | | name |
| 597697765 | CV3669020 | single nucleotide variant | NM_152327.5(AK7):c.1341C>A (p.Ser447Arg) | not specified [RCV004916026] | uncertain significance | 14 | 96458196 | 96458196 | Human | | name |
| 597697970 | CV3669045 | single nucleotide variant | NM_152327.5(AK7):c.1453A>G (p.Lys485Glu) | not specified [RCV004916049] | uncertain significance | 14 | 96471573 | 96471573 | Human | | name |
| 597831092 | CV3743782 | single nucleotide variant | NM_152327.5(AK7):c.1928A>G (p.Gln643Arg) | not provided [RCV005062599] | uncertain significance | 14 | 96483173 | 96483173 | Human | | name |
| 597874996 | CV3766250 | single nucleotide variant | NM_152327.5(AK7):c.1360C>G (p.Gln454Glu) | not provided [RCV005108382] | uncertain significance | 14 | 96471480 | 96471480 | Human | | name |
| 597944578 | CV3793759 | single nucleotide variant | NM_152327.5(AK7):c.1696G>C (p.Asp566His) | not provided [RCV005134399] | uncertain significance | 14 | 96478605 | 96478605 | Human | | name |
| 597974407 | CV3802159 | single nucleotide variant | NM_152327.5(AK7):c.1706C>A (p.Thr569Asn) | not provided [RCV005143935] | uncertain significance | 14 | 96478615 | 96478615 | Human | | name |
| 597971328 | CV3802526 | single nucleotide variant | NM_152327.5(AK7):c.1367A>G (p.Asp456Gly) | not provided [RCV005142124] | uncertain significance | 14 | 96471487 | 96471487 | Human | | name |
| 597971824 | CV3802726 | single nucleotide variant | NM_152327.5(AK7):c.1897G>A (p.Glu633Lys) | not provided [RCV005142324] | uncertain significance | 14 | 96483142 | 96483142 | Human | | name |
| 597962205 | CV3809107 | single nucleotide variant | NM_152327.5(AK7):c.1798C>T (p.Gln600Ter) | not provided [RCV005164009] | uncertain significance | 14 | 96483043 | 96483043 | Human | | name |
| 597918615 | CV3811555 | single nucleotide variant | NM_152327.5(AK7):c.1808A>T (p.Lys603Ile) | not provided [RCV005155386] | uncertain significance | 14 | 96483053 | 96483053 | Human | | name |
| 597920099 | CV3811740 | single nucleotide variant | NM_152327.5(AK7):c.1135G>C (p.Gly379Arg) | not provided [RCV005155571] | uncertain significance | 14 | 96456383 | 96456383 | Human | | name |
| 597958250 | CV3814784 | single nucleotide variant | NM_152327.5(AK7):c.1318C>T (p.Leu440Phe) | not provided [RCV005162909] | uncertain significance | 14 | 96458173 | 96458173 | Human | | name |
| 597953322 | CV3815992 | single nucleotide variant | NM_152327.5(AK7):c.1757T>C (p.Val586Ala) | not provided [RCV005161744] | uncertain significance | 14 | 96483002 | 96483002 | Human | | name |
| 597971415 | CV3833022 | single nucleotide variant | NM_152327.5(AK7):c.1759G>C (p.Gly587Arg) | not provided [RCV005166919] | uncertain significance | 14 | 96483004 | 96483004 | Human | | name |
| 597957184 | CV3838448 | single nucleotide variant | NM_152327.5(AK7):c.1096A>T (p.Met366Leu) | not provided [RCV005191823] | uncertain significance | 14 | 96451568 | 96451568 | Human | | name |
| 597962641 | CV3841045 | single nucleotide variant | NM_152327.5(AK7):c.1378A>G (p.Ile460Val) | not provided [RCV005193338] | uncertain significance | 14 | 96471498 | 96471498 | Human | | name |
| 597907564 | CV3843026 | single nucleotide variant | NM_152327.5(AK7):c.1486C>T (p.Gln496Ter) | not provided [RCV005182334] | uncertain significance | 14 | 96471606 | 96471606 | Human | | name |
| 12896125 | CV390146 | single nucleotide variant | NM_152327.5(AK7):c.1153A>G (p.Lys385Glu) | not provided [RCV000948416]|not specified [RCV000454915] | benign | 14 | 96456401 | 96456401 | Human | | name |
| 12896625 | CV390149 | single nucleotide variant | NM_152327.5(AK7):c.1167C>G (p.Asn389Lys) | not provided [RCV002056683]|not specified [RCV000455601] | benign | 14 | 96456415 | 96456415 | Human | | name |
| 598212033 | CV3965595 | single nucleotide variant | NM_152327.5(AK7):c.2002G>A (p.Glu668Lys) | not specified [RCV005339020] | uncertain significance | 14 | 96486925 | 96486925 | Human | | name |
| 598212090 | CV3965605 | single nucleotide variant | NM_152327.5(AK7):c.2011G>A (p.Glu671Lys) | not specified [RCV005339030] | uncertain significance | 14 | 96486934 | 96486934 | Human | | name |
| 13612575 | CV514264 | single nucleotide variant | NM_152327.5(AK7):c.2018T>G (p.Leu673Arg) | Spermatogenic failure 27 [RCV000627039] | pathogenic | 14 | 96486941 | 96486941 | Human | 1 | name |
| 14393244 | CV609315 | single nucleotide variant | NM_152327.5(AK7):c.2018T>C (p.Leu673Pro) | Spermatogenic failure 27 [RCV000755755]|not provided [RCV002067184] | likely pathogenic|likely benign | 14 | 96486941 | 96486941 | Human | 1 | name |
| 156318488 | CV1897640 | microsatellite | NM_152327.5(AK7):c.1265AAG[2] (p.Glu424del) | not provided [RCV002579093] | uncertain significance | 14 | 96458118 | 96458120 | Human | | name |
| 156095065 | CV2087708 | insertion | NM_152327.5(AK7):c.639_640insA (p.Ala214fs) | not provided [RCV002847865] | uncertain significance | 14 | 96437864 | 96437865 | Human | | name |
| 405137716 | CV3048607 | microsatellite | NM_152327.5(AK7):c.1497GGA[2] (p.Glu502del) | not provided [RCV003725377] | uncertain significance | 14 | 96472695 | 96472697 | Human | | name |
| 402472679 | CV2978979 | deletion | NM_001350888.2(AK7):c.1486+1091_1486+1105del | not provided [RCV003678188] | uncertain significance | 14 | 96472686 | 96472700 | Human | | name |
| 151824790 | CV1373335 | deletion | NM_152327.5(AK7):c.2146_2148del (p.Phe716del) | not provided [RCV001934491] | uncertain significance | 14 | 96488315 | 96488317 | Human | | name |
| 405144176 | CV3056242 | insertion | NM_152327.5(AK7):c.262_263insTGCC (p.Pro88fs) | not provided [RCV003725908] | uncertain significance | 14 | 96398228 | 96398229 | Human | | name |
| 151806422 | CV1430068 | microsatellite | NM_152327.5(AK7):c.153GGAAGA[1] (p.Glu53_Glu56del) | not provided [RCV001974375] | uncertain significance | 14 | 96398119 | 96398130 | Human | | name |
| 156299640 | CV1933399 | microsatellite | NM_152327.5(AK7):c.153GGAAGA[2] (p.Glu55_Glu56del) | not provided [RCV002629183] | uncertain significance | 14 | 96398119 | 96398124 | Human | | name |
| 151805044 | CV1429825 | indel | NM_152327.5(AK7):c.1975-17_1975-14delinsTATTCTATTTTAGAATATTCTATTCTATTTTATTT | not provided [RCV001974258] | uncertain significance | 14 | 96486881 | 96486884 | Human | | name |