| 15195769 | CV777219 | single nucleotide variant | NM_001378068.1(ANKAR):c.1307+5G>A | not provided [RCV000956015] | benign | 2 | 189693182 | 189693182 | Human | | name |
| 15195766 | CV697213 | single nucleotide variant | NM_001378068.1(ANKAR):c.276T>G (p.Thr92=) | not provided [RCV000956014] | benign | 2 | 189676766 | 189676766 | Human | | name |
| 401752732 | CV2707107 | single nucleotide variant | NM_001378068.1(ANKAR):c.29C>G (p.Pro10Arg) | not specified [RCV004321688] | uncertain significance | 2 | 189676519 | 189676519 | Human | | name |
| 401750812 | CV2715771 | single nucleotide variant | NM_001378068.1(ANKAR):c.41A>G (p.Gln14Arg) | not specified [RCV004328908] | uncertain significance | 2 | 189676531 | 189676531 | Human | | name |
| 597645838 | CV3697165 | single nucleotide variant | NM_001378068.1(ANKAR):c.85A>G (p.Arg29Gly) | not specified [RCV004942406] | uncertain significance | 2 | 189676575 | 189676575 | Human | | name |
| 8625233 | CV80352 | single nucleotide variant | NM_144708.3(ANKAR):c.1958A>G (p.Asp653Gly) | Malignant melanoma [RCV000060429] | not provided | 2 | 189706985 | 189706985 | Human | | name |
| 156397574 | CV2197266 | single nucleotide variant | NM_001378068.1(ANKAR):c.281T>C (p.Leu94Pro) | not specified [RCV004079041] | uncertain significance | 2 | 189676771 | 189676771 | Human | | name |
| 155939140 | CV2225357 | single nucleotide variant | NM_001378068.1(ANKAR):c.265G>A (p.Val89Met) | not specified [RCV004100775] | uncertain significance | 2 | 189676755 | 189676755 | Human | | name |
| 156304557 | CV2369131 | single nucleotide variant | NM_001378068.1(ANKAR):c.185G>A (p.Arg62His) | not specified [RCV004208057] | uncertain significance | 2 | 189676675 | 189676675 | Human | | name |
| 329372454 | CV2455219 | single nucleotide variant | NM_001378068.1(ANKAR):c.248C>T (p.Ala83Val) | not specified [RCV004274445] | uncertain significance | 2 | 189676738 | 189676738 | Human | | name |
| 401929983 | CV2819437 | single nucleotide variant | NM_001378068.1(ANKAR):c.1830C>T (p.Ala610=) | not provided [RCV003440107] | likely benign | 2 | 189705144 | 189705144 | Human | | name |
| 597645518 | CV3697043 | single nucleotide variant | NM_001378068.1(ANKAR):c.178G>A (p.Asp60Asn) | not specified [RCV004942384] | uncertain significance | 2 | 189676668 | 189676668 | Human | | name |
| 15183700 | CV707899 | single nucleotide variant | NM_001378068.1(ANKAR):c.281T>G (p.Leu94Arg) | not provided [RCV000974937] | benign | 2 | 189676771 | 189676771 | Human | | name |
| 15150593 | CV707902 | single nucleotide variant | NM_001378068.1(ANKAR):c.2337G>A (p.Leu779=) | not provided [RCV000967975] | benign | 2 | 189719684 | 189719684 | Human | | name |
| 15121768 | CV707903 | single nucleotide variant | NM_001378068.1(ANKAR):c.2814C>T (p.Asn938=) | not provided [RCV000962954] | benign | 2 | 189728034 | 189728034 | Human | | name |
| 15110364 | CV747116 | duplication | NM_001378068.1(ANKAR):c.105dup (p.Glu36Ter) | not provided [RCV000916517] | likely benign | 2 | 189676588 | 189676589 | Human | | name |
| 15120023 | CV747117 | single nucleotide variant | NM_001378068.1(ANKAR):c.1332A>G (p.Leu444=) | not provided [RCV000918244] | likely benign | 2 | 189695005 | 189695005 | Human | | name |
| 8630102 | CV85249 | single nucleotide variant | NM_144708.3(ANKAR):c.3475C>T (p.Arg1159Cys) | Malignant melanoma [RCV000065331] | not provided | 2 | 189737734 | 189737734 | Human | | name |
| 155918826 | CV2206113 | single nucleotide variant | NM_001378068.1(ANKAR):c.560C>T (p.Pro187Leu) | not specified [RCV004078521] | uncertain significance | 2 | 189677050 | 189677050 | Human | | name |
| 156141544 | CV2208426 | single nucleotide variant | NM_001378068.1(ANKAR):c.747C>G (p.Phe249Leu) | not specified [RCV004090970] | uncertain significance | 2 | 189689672 | 189689672 | Human | | name |
| 156145848 | CV2292566 | single nucleotide variant | NM_001378068.1(ANKAR):c.832G>T (p.Asp278Tyr) | not specified [RCV004150337] | uncertain significance | 2 | 189689757 | 189689757 | Human | | name |
| 156331942 | CV2339712 | single nucleotide variant | NM_001378068.1(ANKAR):c.430G>A (p.Gly144Arg) | not specified [RCV004196414] | uncertain significance | 2 | 189676920 | 189676920 | Human | | name |
| 329396936 | CV2468341 | single nucleotide variant | NM_001378068.1(ANKAR):c.992A>G (p.Lys331Arg) | not specified [RCV004275886] | uncertain significance | 2 | 189689917 | 189689917 | Human | | name |
| 405818185 | CV3280879 | single nucleotide variant | NM_001378068.1(ANKAR):c.915G>T (p.Lys305Asn) | not specified [RCV004413195] | uncertain significance | 2 | 189689840 | 189689840 | Human | | name |
| 407518905 | CV3453779 | single nucleotide variant | NM_001378068.1(ANKAR):c.576C>G (p.Asp192Glu) | not specified [RCV004629041] | uncertain significance | 2 | 189677066 | 189677066 | Human | | name |
| 407495696 | CV3453795 | single nucleotide variant | NM_001378068.1(ANKAR):c.302A>G (p.His101Arg) | not specified [RCV004643288] | uncertain significance | 2 | 189676792 | 189676792 | Human | | name |
| 407495758 | CV3453815 | single nucleotide variant | NM_001378068.1(ANKAR):c.476A>T (p.His159Leu) | not specified [RCV004643302] | uncertain significance | 2 | 189676966 | 189676966 | Human | | name |
| 407495852 | CV3453844 | single nucleotide variant | NM_001378068.1(ANKAR):c.726T>G (p.Asn242Lys) | not specified [RCV004643323] | uncertain significance | 2 | 189689651 | 189689651 | Human | | name |
| 407495891 | CV3453855 | single nucleotide variant | NM_001378068.1(ANKAR):c.662A>G (p.Glu221Gly) | not specified [RCV004643332] | uncertain significance | 2 | 189689587 | 189689587 | Human | | name |
| 597645510 | CV3697040 | single nucleotide variant | NM_001378068.1(ANKAR):c.971C>T (p.Pro324Leu) | not specified [RCV004942383] | uncertain significance | 2 | 189689896 | 189689896 | Human | | name |
| 597645755 | CV3697081 | single nucleotide variant | NM_001378068.1(ANKAR):c.578T>C (p.Ile193Thr) | not specified [RCV004942394] | uncertain significance | 2 | 189677068 | 189677068 | Human | | name |
| 597645776 | CV3697095 | single nucleotide variant | NM_001378068.1(ANKAR):c.824A>G (p.Tyr275Cys) | not specified [RCV004942397] | likely benign | 2 | 189689749 | 189689749 | Human | | name |
| 597645801 | CV3697117 | single nucleotide variant | NM_001378068.1(ANKAR):c.868C>G (p.Gln290Glu) | not specified [RCV004942401] | uncertain significance | 2 | 189689793 | 189689793 | Human | | name |
| 598183148 | CV3983846 | single nucleotide variant | NM_001378068.1(ANKAR):c.438T>G (p.Ile146Met) | not specified [RCV005352850] | uncertain significance | 2 | 189676928 | 189676928 | Human | | name |
| 598161955 | CV3983856 | single nucleotide variant | NM_001378068.1(ANKAR):c.764A>G (p.Gln255Arg) | not specified [RCV005368539] | uncertain significance | 2 | 189689689 | 189689689 | Human | | name |
| 15144445 | CV707905 | single nucleotide variant | NM_001378068.1(ANKAR):c.4047C>T (p.Ile1349=) | not provided [RCV000966835] | benign | 2 | 189744778 | 189744778 | Human | | name |
| 15195278 | CV719477 | single nucleotide variant | NM_001378068.1(ANKAR):c.616A>G (p.Thr206Ala) | not provided [RCV000889458] | benign | 2 | 189689541 | 189689541 | Human | | name |
| 156257527 | CV2219893 | single nucleotide variant | NM_001378068.1(ANKAR):c.1846G>A (p.Val616Ile) | not specified [RCV004095523] | likely benign | 2 | 189705160 | 189705160 | Human | | name |
| 156386854 | CV2225224 | single nucleotide variant | NM_001378068.1(ANKAR):c.1819A>G (p.Ile607Val) | not specified [RCV004095019] | uncertain significance | 2 | 189705133 | 189705133 | Human | | name |
| 155971860 | CV2227980 | single nucleotide variant | NM_001378068.1(ANKAR):c.2014G>C (p.Gly672Arg) | not specified [RCV004096228] | uncertain significance | 2 | 189707041 | 189707041 | Human | | name |
| 156051640 | CV2238053 | single nucleotide variant | NM_001378068.1(ANKAR):c.2726T>G (p.Ile909Ser) | not specified [RCV004111080] | uncertain significance | 2 | 189727946 | 189727946 | Human | | name |
| 156146798 | CV2289273 | single nucleotide variant | NM_001378068.1(ANKAR):c.2615G>T (p.Arg872Ile) | not specified [RCV004152258] | uncertain significance | 2 | 189720767 | 189720767 | Human | | name |
| 156211329 | CV2314527 | single nucleotide variant | NM_001378068.1(ANKAR):c.2344G>A (p.Ala782Thr) | not specified [RCV004168621] | uncertain significance | 2 | 189719691 | 189719691 | Human | | name |
| 156263288 | CV2314962 | single nucleotide variant | NM_001378068.1(ANKAR):c.1738G>A (p.Ala580Thr) | not specified [RCV004164889] | uncertain significance | 2 | 189705052 | 189705052 | Human | | name |
| 156283462 | CV2334681 | single nucleotide variant | NM_001378068.1(ANKAR):c.2164A>G (p.Met722Val) | not specified [RCV004188663] | uncertain significance | 2 | 189711093 | 189711093 | Human | | name |
| 156339878 | CV2351661 | single nucleotide variant | NM_001378068.1(ANKAR):c.1555C>T (p.Arg519Cys) | not specified [RCV004195372] | uncertain significance | 2 | 189696216 | 189696216 | Human | | name |
| 155909734 | CV2359952 | single nucleotide variant | NM_001378068.1(ANKAR):c.2120A>C (p.Glu707Ala) | not specified [RCV004212795] | uncertain significance | 2 | 189711049 | 189711049 | Human | | name |
| 156346539 | CV2378081 | single nucleotide variant | NM_001378068.1(ANKAR):c.2608C>A (p.Leu870Ile) | not specified [RCV004232640] | uncertain significance | 2 | 189720760 | 189720760 | Human | | name |
| 156206595 | CV2385340 | single nucleotide variant | NM_001378068.1(ANKAR):c.2161G>A (p.Val721Ile) | not specified [RCV004230614] | uncertain significance | 2 | 189711090 | 189711090 | Human | | name |
| 155958560 | CV2395208 | single nucleotide variant | NM_001378068.1(ANKAR):c.1723C>T (p.His575Tyr) | not specified [RCV004236876] | uncertain significance | 2 | 189705037 | 189705037 | Human | | name |
| 329365043 | CV2439981 | single nucleotide variant | NM_001378068.1(ANKAR):c.2753G>A (p.Gly918Glu) | not specified [RCV004260460] | uncertain significance | 2 | 189727973 | 189727973 | Human | | name |
| 329395278 | CV2457909 | single nucleotide variant | NM_001378068.1(ANKAR):c.1180G>A (p.Glu394Lys) | not specified [RCV004271498] | uncertain significance | 2 | 189692395 | 189692395 | Human | | name |
| 401780953 | CV2681834 | single nucleotide variant | NM_001378068.1(ANKAR):c.1978T>C (p.Ser660Pro) | not specified [RCV004296832] | uncertain significance | 2 | 189707005 | 189707005 | Human | | name |
| 401759730 | CV2705695 | single nucleotide variant | NM_001378068.1(ANKAR):c.2681G>C (p.Arg894Pro) | not specified [RCV004318548] | uncertain significance | 2 | 189727901 | 189727901 | Human | | name |
| 401778381 | CV2714687 | single nucleotide variant | NM_001378068.1(ANKAR):c.2965G>C (p.Glu989Gln) | not specified [RCV004320264] | uncertain significance | 2 | 189728354 | 189728354 | Human | | name |
| 401763549 | CV2720363 | single nucleotide variant | NM_001378068.1(ANKAR):c.1675G>A (p.Val559Ile) | not specified [RCV004325676] | uncertain significance | 2 | 189696336 | 189696336 | Human | | name |
| 401779032 | CV2733074 | single nucleotide variant | NM_001378068.1(ANKAR):c.1367G>C (p.Trp456Ser) | not specified [RCV004332008] | uncertain significance | 2 | 189695040 | 189695040 | Human | | name |
| 401856773 | CV2764953 | single nucleotide variant | NM_001378068.1(ANKAR):c.2593A>C (p.Lys865Gln) | not specified [RCV004335037] | uncertain significance | 2 | 189720745 | 189720745 | Human | | name |
| 401879852 | CV2769776 | single nucleotide variant | NM_001378068.1(ANKAR):c.2570A>C (p.Asn857Thr) | not specified [RCV004353650] | uncertain significance | 2 | 189720722 | 189720722 | Human | | name |
| 401878976 | CV2773887 | single nucleotide variant | NM_001378068.1(ANKAR):c.1501G>A (p.Gly501Ser) | not specified [RCV004358321] | uncertain significance | 2 | 189696162 | 189696162 | Human | | name |
| 401854435 | CV2774443 | single nucleotide variant | NM_001378068.1(ANKAR):c.1688G>A (p.Arg563His) | not specified [RCV004347779] | uncertain significance | 2 | 189696349 | 189696349 | Human | | name |
| 401865484 | CV2778784 | single nucleotide variant | NM_001378068.1(ANKAR):c.1808G>T (p.Gly603Val) | not specified [RCV004346686] | uncertain significance | 2 | 189705122 | 189705122 | Human | | name |
| 401871092 | CV2783419 | single nucleotide variant | NM_001378068.1(ANKAR):c.2423A>G (p.Tyr808Cys) | not specified [RCV004365767] | uncertain significance | 2 | 189719770 | 189719770 | Human | | name |
| 401870883 | CV2788933 | single nucleotide variant | NM_001378068.1(ANKAR):c.1603A>C (p.Thr535Pro) | not specified [RCV004363255] | uncertain significance | 2 | 189696264 | 189696264 | Human | | name |
| 401917372 | CV2819436 | single nucleotide variant | NM_001378068.1(ANKAR):c.1298A>G (p.His433Arg) | not provided [RCV003429467] | likely benign | 2 | 189693168 | 189693168 | Human | | name |
| 405818087 | CV3280757 | single nucleotide variant | NM_001378068.1(ANKAR):c.1289T>C (p.Met430Thr) | not specified [RCV004413073] | uncertain significance | 2 | 189693159 | 189693159 | Human | | name |
| 405818258 | CV3280775 | single nucleotide variant | NM_001378068.1(ANKAR):c.1772G>A (p.Cys591Tyr) | not specified [RCV004413091] | uncertain significance | 2 | 189705086 | 189705086 | Human | | name |
| 405818100 | CV3280794 | single nucleotide variant | NM_001378068.1(ANKAR):c.2041T>A (p.Leu681Ile) | not specified [RCV004413110] | uncertain significance | 2 | 189707068 | 189707068 | Human | | name |
| 405818114 | CV3280808 | single nucleotide variant | NM_001378068.1(ANKAR):c.2324C>A (p.Ala775Glu) | not specified [RCV004413124] | uncertain significance | 2 | 189719671 | 189719671 | Human | | name |
| 405818119 | CV3280813 | single nucleotide variant | NM_001378068.1(ANKAR):c.2564A>T (p.Glu855Val) | not specified [RCV004413129] | uncertain significance | 2 | 189720716 | 189720716 | Human | | name |
| 405818132 | CV3280826 | single nucleotide variant | NM_001378068.1(ANKAR):c.2810A>T (p.His937Leu) | not specified [RCV004413142] | uncertain significance | 2 | 189728030 | 189728030 | Human | | name |
| 405818136 | CV3280830 | single nucleotide variant | NM_001378068.1(ANKAR):c.2904A>T (p.Gln968His) | not specified [RCV004413146] | uncertain significance | 2 | 189728293 | 189728293 | Human | | name |
| 405818139 | CV3280833 | single nucleotide variant | NM_001378068.1(ANKAR):c.2975G>A (p.Gly992Glu) | not specified [RCV004413149] | uncertain significance | 2 | 189728364 | 189728364 | Human | | name |
| 407518894 | CV3453759 | single nucleotide variant | NM_001378068.1(ANKAR):c.2147G>A (p.Arg716Gln) | not specified [RCV004629036] | uncertain significance | 2 | 189711076 | 189711076 | Human | | name |
| 407495593 | CV3453768 | single nucleotide variant | NM_001378068.1(ANKAR):c.1738G>T (p.Ala580Ser) | not specified [RCV004643266] | uncertain significance | 2 | 189705052 | 189705052 | Human | | name |
| 407495667 | CV3453788 | single nucleotide variant | NM_001378068.1(ANKAR):c.1394A>G (p.Asn465Ser) | not specified [RCV004643281] | uncertain significance | 2 | 189695067 | 189695067 | Human | | name |
| 407495723 | CV3453804 | single nucleotide variant | NM_001378068.1(ANKAR):c.2542C>T (p.Arg848Trp) | not specified [RCV004643294] | uncertain significance | 2 | 189720694 | 189720694 | Human | | name |
| 407495785 | CV3453823 | single nucleotide variant | NM_001378068.1(ANKAR):c.2537G>A (p.Cys846Tyr) | not specified [RCV004643309] | uncertain significance | 2 | 189720689 | 189720689 | Human | | name |
| 407495808 | CV3453833 | single nucleotide variant | NM_001378068.1(ANKAR):c.1171C>T (p.Pro391Ser) | not specified [RCV004643314] | uncertain significance | 2 | 189692386 | 189692386 | Human | | name |
| 407496023 | CV3453888 | single nucleotide variant | NM_001378068.1(ANKAR):c.2875A>G (p.Lys959Glu) | not specified [RCV004643360] | uncertain significance | 2 | 189728095 | 189728095 | Human | | name |
| 407518962 | CV3453898 | single nucleotide variant | NM_001378068.1(ANKAR):c.1288A>T (p.Met430Leu) | not specified [RCV004629067] | uncertain significance | 2 | 189693158 | 189693158 | Human | | name |
| 407518970 | CV3453908 | single nucleotide variant | NM_001378068.1(ANKAR):c.2453T>C (p.Val818Ala) | not specified [RCV004629071] | uncertain significance | 2 | 189719800 | 189719800 | Human | | name |
| 407496099 | CV3453918 | single nucleotide variant | NM_001378068.1(ANKAR):c.1099T>A (p.Cys367Ser) | not specified [RCV004643382] | uncertain significance | 2 | 189692314 | 189692314 | Human | | name |
| 407496161 | CV3453938 | single nucleotide variant | NM_001378068.1(ANKAR):c.1554C>G (p.Ser518Arg) | not specified [RCV004643400] | uncertain significance | 2 | 189696215 | 189696215 | Human | | name |
| 407518980 | CV3453949 | single nucleotide variant | NM_001378068.1(ANKAR):c.1790C>T (p.Thr597Met) | not specified [RCV004629076] | uncertain significance | 2 | 189705104 | 189705104 | Human | | name |
| 597645525 | CV3697046 | single nucleotide variant | NM_001378068.1(ANKAR):c.2183G>T (p.Cys728Phe) | not specified [RCV004942385] | uncertain significance | 2 | 189711112 | 189711112 | Human | | name |
| 597645531 | CV3697047 | single nucleotide variant | NM_001378068.1(ANKAR):c.2135A>C (p.Glu712Ala) | not specified [RCV004942386] | uncertain significance | 2 | 189711064 | 189711064 | Human | | name |
| 597645537 | CV3697054 | single nucleotide variant | NM_001378068.1(ANKAR):c.2687A>G (p.Asn896Ser) | not specified [RCV004942387] | uncertain significance | 2 | 189727907 | 189727907 | Human | | name |
| 597645713 | CV3697057 | single nucleotide variant | NM_001378068.1(ANKAR):c.1817C>T (p.Pro606Leu) | not specified [RCV004942388] | uncertain significance | 2 | 189705131 | 189705131 | Human | | name |
| 597645728 | CV3697063 | single nucleotide variant | NM_001378068.1(ANKAR):c.2051A>T (p.His684Leu) | not specified [RCV004942390] | uncertain significance | 2 | 189707078 | 189707078 | Human | | name |
| 597645734 | CV3697069 | single nucleotide variant | NM_001378068.1(ANKAR):c.2124G>A (p.Met708Ile) | not specified [RCV004942391] | uncertain significance | 2 | 189711053 | 189711053 | Human | | name |
| 597645742 | CV3697072 | single nucleotide variant | NM_001378068.1(ANKAR):c.1865T>C (p.Leu622Pro) | not specified [RCV004942392] | uncertain significance | 2 | 189705179 | 189705179 | Human | | name |
| 597645749 | CV3697077 | single nucleotide variant | NM_001378068.1(ANKAR):c.2597G>T (p.Gly866Val) | not specified [RCV004942393] | uncertain significance | 2 | 189720749 | 189720749 | Human | | name |
| 597645769 | CV3697093 | single nucleotide variant | NM_001378068.1(ANKAR):c.2020A>C (p.Asn674His) | not specified [RCV004942396] | uncertain significance | 2 | 189707047 | 189707047 | Human | | name |
| 597645781 | CV3697099 | single nucleotide variant | NM_001378068.1(ANKAR):c.1887G>T (p.Leu629Phe) | not specified [RCV004942398] | uncertain significance | 2 | 189705201 | 189705201 | Human | | name |
| 597645824 | CV3697147 | single nucleotide variant | NM_001378068.1(ANKAR):c.2507T>C (p.Ile836Thr) | not specified [RCV004942404] | uncertain significance | 2 | 189720659 | 189720659 | Human | | name |
| 597645830 | CV3697155 | single nucleotide variant | NM_001378068.1(ANKAR):c.2789C>T (p.Ala930Val) | not specified [RCV004942405] | uncertain significance | 2 | 189728009 | 189728009 | Human | | name |
| 598183078 | CV3983809 | single nucleotide variant | NM_001378068.1(ANKAR):c.1880C>G (p.Pro627Arg) | not specified [RCV005352838] | uncertain significance | 2 | 189705194 | 189705194 | Human | | name |
| 598161860 | CV3983818 | single nucleotide variant | NM_001378068.1(ANKAR):c.1280T>C (p.Ile427Thr) | not specified [RCV005368519] | uncertain significance | 2 | 189693150 | 189693150 | Human | | name |
| 598221500 | CV3983838 | single nucleotide variant | NM_001378068.1(ANKAR):c.1717C>T (p.Pro573Ser) | not specified [RCV005360814] | uncertain significance | 2 | 189705031 | 189705031 | Human | | name |
| 598183198 | CV3983864 | single nucleotide variant | NM_001378068.1(ANKAR):c.1769T>C (p.Leu590Pro) | not specified [RCV005352858] | uncertain significance | 2 | 189705083 | 189705083 | Human | | name |
| 598221240 | CV3987393 | single nucleotide variant | NM_001378068.1(ANKAR):c.1904C>T (p.Thr635Ile) | not specified [RCV005360779] | uncertain significance | 2 | 189705218 | 189705218 | Human | | name |
| 598182983 | CV3987431 | single nucleotide variant | NM_001378068.1(ANKAR):c.1136A>T (p.His379Leu) | not specified [RCV005352822] | uncertain significance | 2 | 189692351 | 189692351 | Human | | name |
| 598221380 | CV3987439 | single nucleotide variant | NM_001378068.1(ANKAR):c.1520A>G (p.Glu507Gly) | not specified [RCV005360798] | uncertain significance | 2 | 189696181 | 189696181 | Human | | name |
| 15150588 | CV707900 | single nucleotide variant | NM_001378068.1(ANKAR):c.1313A>C (p.Tyr438Ser) | not provided [RCV000967974] | benign | 2 | 189694986 | 189694986 | Human | | name |
| 15133036 | CV707901 | single nucleotide variant | NM_001378068.1(ANKAR):c.2044A>G (p.Thr682Ala) | not provided [RCV000964880] | benign | 2 | 189707071 | 189707071 | Human | | name |
| 15184209 | CV719478 | single nucleotide variant | NM_001378068.1(ANKAR):c.2327T>C (p.Val776Ala) | not provided [RCV000886396] | likely benign | 2 | 189719674 | 189719674 | Human | | name |
| 15152425 | CV733025 | single nucleotide variant | NM_001378068.1(ANKAR):c.1616A>T (p.His539Leu) | not provided [RCV000901563] | likely benign | 2 | 189696277 | 189696277 | Human | | name |
| 156032264 | CV2218264 | single nucleotide variant | NM_001378068.1(ANKAR):c.3863C>T (p.Ala1288Val) | not specified [RCV004088457] | uncertain significance | 2 | 189743327 | 189743327 | Human | | name |
| 156380530 | CV2218795 | single nucleotide variant | NM_001378068.1(ANKAR):c.3364C>T (p.His1122Tyr) | not specified [RCV004085041] | uncertain significance | 2 | 189733170 | 189733170 | Human | | name |
| 156067571 | CV2236984 | single nucleotide variant | NM_001378068.1(ANKAR):c.3419A>G (p.Glu1140Gly) | not specified [RCV004112977] | uncertain significance | 2 | 189733225 | 189733225 | Human | | name |
| 156193448 | CV2251602 | single nucleotide variant | NM_001378068.1(ANKAR):c.4037T>G (p.Ile1346Arg) | not specified [RCV004117836] | uncertain significance | 2 | 189744768 | 189744768 | Human | | name |
| 156303826 | CV2258920 | single nucleotide variant | NM_001378068.1(ANKAR):c.4267C>T (p.His1423Tyr) | not specified [RCV004118121] | uncertain significance | 2 | 189746589 | 189746589 | Human | | name |
| 156036709 | CV2283087 | single nucleotide variant | NM_001378068.1(ANKAR):c.4280C>A (p.Ala1427Asp) | not specified [RCV004143698] | uncertain significance | 2 | 189746602 | 189746602 | Human | | name |
| 156295127 | CV2303022 | single nucleotide variant | NM_001378068.1(ANKAR):c.3137C>T (p.Thr1046Met) | not specified [RCV004156814] | uncertain significance | 2 | 189728765 | 189728765 | Human | | name |
| 156348823 | CV2309098 | single nucleotide variant | NM_001378068.1(ANKAR):c.4253A>G (p.Asn1418Ser) | not specified [RCV004171458] | likely benign | 2 | 189746575 | 189746575 | Human | | name |
| 155905319 | CV2385759 | single nucleotide variant | NM_001378068.1(ANKAR):c.4292C>T (p.Pro1431Leu) | not specified [RCV004226509] | uncertain significance | 2 | 189746614 | 189746614 | Human | | name |
| 401734108 | CV2688406 | single nucleotide variant | NM_001378068.1(ANKAR):c.3191T>C (p.Ile1064Thr) | not specified [RCV004299392] | uncertain significance | 2 | 189728819 | 189728819 | Human | | name |
| 401862612 | CV2775247 | single nucleotide variant | NM_001378068.1(ANKAR):c.3476G>A (p.Arg1159His) | not specified [RCV004348373] | uncertain significance | 2 | 189737735 | 189737735 | Human | | name |
| 401865986 | CV2786221 | single nucleotide variant | NM_001378068.1(ANKAR):c.3948T>G (p.Ile1316Met) | not specified [RCV004360016] | uncertain significance | 2 | 189743412 | 189743412 | Human | | name |
| 401929985 | CV2819438 | single nucleotide variant | NM_001378068.1(ANKAR):c.3815G>A (p.Arg1272His) | not provided [RCV003440108] | likely benign | 2 | 189743279 | 189743279 | Human | | name |
| 405818142 | CV3280836 | single nucleotide variant | NM_001378068.1(ANKAR):c.3325T>C (p.Cys1109Arg) | not specified [RCV004413152] | uncertain significance | 2 | 189733131 | 189733131 | Human | | name |
| 405818148 | CV3280842 | single nucleotide variant | NM_001378068.1(ANKAR):c.3425A>T (p.Asp1142Val) | not specified [RCV004413158] | uncertain significance | 2 | 189737684 | 189737684 | Human | | name |
| 405818154 | CV3280848 | single nucleotide variant | NM_001378068.1(ANKAR):c.3539T>G (p.Leu1180Arg) | not specified [RCV004413164] | uncertain significance | 2 | 189737798 | 189737798 | Human | | name |
| 405818162 | CV3280856 | single nucleotide variant | NM_001378068.1(ANKAR):c.3956C>A (p.Ala1319Glu) | not specified [RCV004413172] | uncertain significance | 2 | 189743420 | 189743420 | Human | | name |
| 405818167 | CV3280861 | single nucleotide variant | NM_001378068.1(ANKAR):c.4196C>T (p.Ser1399Leu) | not specified [RCV004413177] | uncertain significance | 2 | 189746518 | 189746518 | Human | | name |
| 407495931 | CV3453866 | single nucleotide variant | NM_001378068.1(ANKAR):c.4149C>A (p.Phe1383Leu) | not specified [RCV004643340] | uncertain significance | 2 | 189746471 | 189746471 | Human | | name |
| 407495978 | CV3453877 | single nucleotide variant | NM_001378068.1(ANKAR):c.4154C>T (p.Ala1385Val) | not specified [RCV004643350] | uncertain significance | 2 | 189746476 | 189746476 | Human | | name |
| 407496133 | CV3453929 | single nucleotide variant | NM_001378068.1(ANKAR):c.3214C>G (p.Pro1072Ala) | not specified [RCV004643391] | uncertain significance | 2 | 189730515 | 189730515 | Human | | name |
| 407496143 | CV3453932 | single nucleotide variant | NM_001378068.1(ANKAR):c.3653T>C (p.Leu1218Ser) | not specified [RCV004643394] | uncertain significance | 2 | 189738635 | 189738635 | Human | | name |
| 597645761 | CV3697086 | single nucleotide variant | NM_001378068.1(ANKAR):c.3428T>A (p.Ile1143Asn) | not specified [RCV004942395] | uncertain significance | 2 | 189737687 | 189737687 | Human | | name |
| 597645788 | CV3697108 | single nucleotide variant | NM_001378068.1(ANKAR):c.3128G>C (p.Arg1043Thr) | not specified [RCV004942399] | uncertain significance | 2 | 189728756 | 189728756 | Human | | name |
| 597645809 | CV3697126 | single nucleotide variant | NM_001378068.1(ANKAR):c.3161G>A (p.Ser1054Asn) | not specified [RCV004942402] | uncertain significance | 2 | 189728789 | 189728789 | Human | | name |
| 597645816 | CV3697137 | single nucleotide variant | NM_001378068.1(ANKAR):c.3574G>A (p.Ala1192Thr) | not specified [RCV004942403] | uncertain significance | 2 | 189737833 | 189737833 | Human | | name |
| 598183031 | CV3983787 | single nucleotide variant | NM_001378068.1(ANKAR):c.3943A>G (p.Ser1315Gly) | not specified [RCV005352830] | uncertain significance | 2 | 189743407 | 189743407 | Human | | name |
| 598161820 | CV3983798 | single nucleotide variant | NM_001378068.1(ANKAR):c.4126G>C (p.Val1376Leu) | not specified [RCV005368512] | uncertain significance | 2 | 189746448 | 189746448 | Human | | name |
| 598161885 | CV3983828 | single nucleotide variant | NM_001378068.1(ANKAR):c.4188T>G (p.Phe1396Leu) | not specified [RCV005368525] | uncertain significance | 2 | 189746510 | 189746510 | Human | | name |
| 598161690 | CV3987410 | single nucleotide variant | NM_001378068.1(ANKAR):c.3186T>G (p.Ile1062Met) | not specified [RCV005368485] | uncertain significance | 2 | 189728814 | 189728814 | Human | | name |
| 598183010 | CV3987453 | single nucleotide variant | NM_001378068.1(ANKAR):c.3056G>A (p.Ser1019Asn) | not specified [RCV005352826] | uncertain significance | 2 | 189728684 | 189728684 | Human | | name |
| 15130269 | CV707904 | single nucleotide variant | NM_001378068.1(ANKAR):c.3785A>C (p.Tyr1262Ser) | not provided [RCV000964406] | benign | 2 | 189741426 | 189741426 | Human | | name |
| 15144453 | CV707906 | single nucleotide variant | NM_001378068.1(ANKAR):c.4256A>T (p.Gln1419Leu) | not provided [RCV000966836] | benign | 2 | 189746578 | 189746578 | Human | | name |
| 8564686 | CV30136 | single nucleotide variant | NM_000518.4(HBB):c.32C>A (p.Ala11Asp) | HEMOGLOBIN ANKARA [RCV000016250] | other | 11 | 5226990 | 5226990 | Human | | trait |