| 598269357 | CV3954243 | single nucleotide variant | NM_001042573.3(ENGASE):c.41G>A (p.Arg14Gln) | not specified [RCV005327318] | uncertain significance | 17 | 79074985 | 79074985 | Human | | name |
| 15170012 | CV727488 | single nucleotide variant | NM_001042573.3(ENGASE):c.390C>T (p.Asp130=) | not provided [RCV000883390] | benign | 17 | 79077838 | 79077838 | Human | | name |
| 156029284 | CV2238301 | single nucleotide variant | NM_001042573.3(ENGASE):c.112G>A (p.Glu38Lys) | not specified [RCV004113379] | uncertain significance | 17 | 79075056 | 79075056 | Human | | name |
| 156132780 | CV2350189 | single nucleotide variant | NM_001042573.3(ENGASE):c.179G>A (p.Arg60Gln) | not specified [RCV004200103] | uncertain significance | 17 | 79077462 | 79077462 | Human | | name |
| 155931209 | CV2361393 | single nucleotide variant | NM_001042573.3(ENGASE):c.179G>C (p.Arg60Pro) | not specified [RCV004218593] | uncertain significance | 17 | 79077462 | 79077462 | Human | | name |
| 155988795 | CV2371864 | single nucleotide variant | NM_001042573.3(ENGASE):c.200C>T (p.Pro67Leu) | not specified [RCV004221555] | uncertain significance | 17 | 79077483 | 79077483 | Human | | name |
| 329371660 | CV2432043 | single nucleotide variant | NM_001042573.3(ENGASE):c.284C>T (p.Ala95Val) | not specified [RCV004249194] | uncertain significance | 17 | 79077732 | 79077732 | Human | | name |
| 329353953 | CV2439787 | single nucleotide variant | NM_001042573.3(ENGASE):c.134G>C (p.Arg45Pro) | not specified [RCV004255790] | uncertain significance | 17 | 79075078 | 79075078 | Human | | name |
| 401907854 | CV2808494 | single nucleotide variant | NM_001042573.3(ENGASE):c.1116G>A (p.Lys372=) | not provided [RCV003422953] | likely benign | 17 | 79083097 | 79083097 | Human | | name |
| 405756356 | CV3245130 | single nucleotide variant | NM_001042573.3(ENGASE):c.197C>T (p.Ser66Phe) | not specified [RCV004382762] | uncertain significance | 17 | 79077480 | 79077480 | Human | | name |
| 15186158 | CV741097 | single nucleotide variant | NM_001042573.3(ENGASE):c.1896C>T (p.Ser632=) | not provided [RCV000908731] | likely benign | 17 | 79086013 | 79086013 | Human | | name |
| 156049199 | CV2241873 | single nucleotide variant | NM_001042573.3(ENGASE):c.341G>A (p.Arg114His) | not specified [RCV004106793] | uncertain significance | 17 | 79077789 | 79077789 | Human | | name |
| 156243035 | CV2246309 | single nucleotide variant | NM_001042573.3(ENGASE):c.478G>A (p.Val160Ile) | not specified [RCV004107754] | likely benign | 17 | 79079550 | 79079550 | Human | | name |
| 155957006 | CV2282003 | single nucleotide variant | NM_001042573.3(ENGASE):c.976T>C (p.Tyr326His) | not specified [RCV004138762] | uncertain significance | 17 | 79082001 | 79082001 | Human | | name |
| 156052490 | CV2329028 | single nucleotide variant | NM_001042573.3(ENGASE):c.475G>A (p.Asp159Asn) | not specified [RCV004180310] | uncertain significance | 17 | 79079547 | 79079547 | Human | | name |
| 156079932 | CV2341294 | single nucleotide variant | NM_001042573.3(ENGASE):c.346C>G (p.Pro116Ala) | not specified [RCV004186703] | uncertain significance | 17 | 79077794 | 79077794 | Human | | name |
| 156112389 | CV2353423 | single nucleotide variant | NM_001042573.3(ENGASE):c.965G>A (p.Arg322Gln) | not specified [RCV004205881] | uncertain significance | 17 | 79081990 | 79081990 | Human | | name |
| 156046485 | CV2397329 | single nucleotide variant | NM_001042573.3(ENGASE):c.958G>C (p.Glu320Gln) | not specified [RCV004238855] | uncertain significance | 17 | 79081983 | 79081983 | Human | | name |
| 329370251 | CV2435524 | single nucleotide variant | NM_001042573.3(ENGASE):c.578C>T (p.Thr193Met) | not specified [RCV004253165] | uncertain significance | 17 | 79080219 | 79080219 | Human | | name |
| 401738316 | CV2711777 | single nucleotide variant | NM_001042573.3(ENGASE):c.856C>T (p.Leu286Phe) | not specified [RCV004309426] | uncertain significance | 17 | 79081057 | 79081057 | Human | | name |
| 401856204 | CV2764449 | single nucleotide variant | NM_001042573.3(ENGASE):c.758G>A (p.Arg253Gln) | not specified [RCV004339014] | uncertain significance | 17 | 79080959 | 79080959 | Human | | name |
| 401881662 | CV2783913 | single nucleotide variant | NM_001042573.3(ENGASE):c.323T>C (p.Leu108Pro) | not specified [RCV004362341] | uncertain significance | 17 | 79077771 | 79077771 | Human | | name |
| 405756383 | CV3245134 | single nucleotide variant | NM_001042573.3(ENGASE):c.346C>A (p.Pro116Thr) | not specified [RCV004382766] | uncertain significance | 17 | 79077794 | 79077794 | Human | | name |
| 405756387 | CV3245135 | single nucleotide variant | NM_001042573.3(ENGASE):c.485T>G (p.Val162Gly) | not specified [RCV004382767] | uncertain significance | 17 | 79079557 | 79079557 | Human | | name |
| 405756393 | CV3245136 | single nucleotide variant | NM_001042573.3(ENGASE):c.523G>A (p.Gly175Ser) | not specified [RCV004382768] | uncertain significance | 17 | 79079595 | 79079595 | Human | | name |
| 405756399 | CV3245137 | single nucleotide variant | NM_001042573.3(ENGASE):c.650C>A (p.Ala217Asp) | not specified [RCV004382769] | uncertain significance | 17 | 79080291 | 79080291 | Human | | name |
| 405756406 | CV3245138 | single nucleotide variant | NM_001042573.3(ENGASE):c.692G>C (p.Gly231Ala) | not specified [RCV004382770] | uncertain significance | 17 | 79080333 | 79080333 | Human | | name |
| 405756413 | CV3245139 | single nucleotide variant | NM_001042573.3(ENGASE):c.716C>T (p.Ser239Leu) | not specified [RCV004382771] | uncertain significance | 17 | 79080357 | 79080357 | Human | | name |
| 405756420 | CV3245140 | single nucleotide variant | NM_001042573.3(ENGASE):c.782G>A (p.Arg261Gln) | not specified [RCV004382772] | likely benign | 17 | 79080983 | 79080983 | Human | | name |
| 405756427 | CV3245141 | single nucleotide variant | NM_001042573.3(ENGASE):c.919C>T (p.Arg307Trp) | not specified [RCV004382773] | uncertain significance | 17 | 79081944 | 79081944 | Human | | name |
| 405756436 | CV3245142 | single nucleotide variant | NM_001042573.3(ENGASE):c.985G>A (p.Val329Met) | not specified [RCV004382774] | uncertain significance | 17 | 79082010 | 79082010 | Human | | name |
| 597686181 | CV3664499 | single nucleotide variant | NM_001042573.3(ENGASE):c.775C>G (p.Leu259Val) | not specified [RCV004914862] | uncertain significance | 17 | 79080976 | 79080976 | Human | | name |
| 597686197 | CV3664501 | single nucleotide variant | NM_001042573.3(ENGASE):c.877T>G (p.Phe293Val) | not specified [RCV004914864] | uncertain significance | 17 | 79081902 | 79081902 | Human | | name |
| 597686205 | CV3664502 | single nucleotide variant | NM_001042573.3(ENGASE):c.409G>C (p.Asp137His) | not specified [RCV004914865] | uncertain significance | 17 | 79077857 | 79077857 | Human | | name |
| 597686215 | CV3664503 | single nucleotide variant | NM_001042573.3(ENGASE):c.370C>T (p.Arg124Trp) | not specified [RCV004914866] | uncertain significance | 17 | 79077818 | 79077818 | Human | | name |
| 597686223 | CV3664504 | single nucleotide variant | NM_001042573.3(ENGASE):c.631C>T (p.Arg211Cys) | not specified [RCV004914867] | uncertain significance | 17 | 79080272 | 79080272 | Human | | name |
| 598269340 | CV3954240 | single nucleotide variant | NM_001042573.3(ENGASE):c.944T>C (p.Leu315Pro) | not specified [RCV005327315] | uncertain significance | 17 | 79081969 | 79081969 | Human | | name |
| 598269363 | CV3954244 | single nucleotide variant | NM_001042573.3(ENGASE):c.895G>A (p.Gly299Ser) | not specified [RCV005327319] | uncertain significance | 17 | 79081920 | 79081920 | Human | | name |
| 598269383 | CV3954248 | single nucleotide variant | NM_001042573.3(ENGASE):c.920G>A (p.Arg307Gln) | not specified [RCV005327323] | uncertain significance | 17 | 79081945 | 79081945 | Human | | name |
| 598269388 | CV3954249 | single nucleotide variant | NM_001042573.3(ENGASE):c.656G>A (p.Arg219Gln) | not specified [RCV005327324] | likely benign | 17 | 79080297 | 79080297 | Human | | name |
| 598269393 | CV3954250 | single nucleotide variant | NM_001042573.3(ENGASE):c.745C>T (p.Pro249Ser) | not specified [RCV005327325] | uncertain significance | 17 | 79080946 | 79080946 | Human | | name |
| 598269399 | CV3954251 | single nucleotide variant | NM_001042573.3(ENGASE):c.926A>C (p.Glu309Ala) | not specified [RCV005327326] | uncertain significance | 17 | 79081951 | 79081951 | Human | | name |
| 15165984 | CV715768 | single nucleotide variant | NM_001042573.3(ENGASE):c.505G>A (p.Val169Ile) | not provided [RCV000971070] | benign | 17 | 79079577 | 79079577 | Human | | name |
| 8628086 | CV83230 | single nucleotide variant | NM_001042573.2(ENGASE):c.515C>T (p.Pro172Leu) | Malignant melanoma [RCV000063310] | not provided | 17 | 79079587 | 79079587 | Human | | name |
| 156398439 | CV2200792 | single nucleotide variant | NM_001042573.3(ENGASE):c.1247G>T (p.Gly416Val) | not specified [RCV004081431] | uncertain significance | 17 | 79083586 | 79083586 | Human | | name |
| 156249805 | CV2222155 | single nucleotide variant | NM_001042573.3(ENGASE):c.2086C>T (p.Arg696Trp) | not specified [RCV004104908] | uncertain significance | 17 | 79086203 | 79086203 | Human | | name |
| 156287958 | CV2229701 | single nucleotide variant | NM_001042573.3(ENGASE):c.2116G>A (p.Gly706Arg) | not specified [RCV004103506] | uncertain significance | 17 | 79086233 | 79086233 | Human | | name |
| 156132624 | CV2235335 | single nucleotide variant | NM_001042573.3(ENGASE):c.1254A>C (p.Glu418Asp) | not specified [RCV004107362] | uncertain significance | 17 | 79083763 | 79083763 | Human | | name |
| 155901889 | CV2237818 | single nucleotide variant | NM_001042573.3(ENGASE):c.1696C>G (p.Gln566Glu) | not specified [RCV004109058] | uncertain significance | 17 | 79085338 | 79085338 | Human | | name |
| 156127744 | CV2244701 | single nucleotide variant | NM_001042573.3(ENGASE):c.1163G>A (p.Arg388His) | not specified [RCV004102702] | uncertain significance | 17 | 79083502 | 79083502 | Human | | name |
| 156272077 | CV2280865 | single nucleotide variant | NM_001042573.3(ENGASE):c.1312G>A (p.Glu438Lys) | not specified [RCV004145118] | uncertain significance | 17 | 79083821 | 79083821 | Human | | name |
| 156292938 | CV2306281 | single nucleotide variant | NM_001042573.3(ENGASE):c.1883G>A (p.Arg628His) | not specified [RCV004163002] | uncertain significance | 17 | 79086000 | 79086000 | Human | | name |
| 156351167 | CV2316357 | single nucleotide variant | NM_001042573.3(ENGASE):c.1483C>G (p.Leu495Val) | not specified [RCV004174366] | uncertain significance | 17 | 79084578 | 79084578 | Human | | name |
| 156260671 | CV2322316 | single nucleotide variant | NM_001042573.3(ENGASE):c.1970A>G (p.Gln657Arg) | not specified [RCV004176075] | uncertain significance | 17 | 79086087 | 79086087 | Human | | name |
| 156166961 | CV2330162 | single nucleotide variant | NM_001042573.3(ENGASE):c.1418C>T (p.Pro473Leu) | not specified [RCV004185648] | uncertain significance | 17 | 79083927 | 79083927 | Human | | name |
| 155963706 | CV2330360 | single nucleotide variant | NM_001042573.3(ENGASE):c.1001G>A (p.Arg334Gln) | not specified [RCV004180936] | uncertain significance | 17 | 79082026 | 79082026 | Human | | name |
| 156177245 | CV2331227 | single nucleotide variant | NM_001042573.3(ENGASE):c.1574G>A (p.Gly525Asp) | not specified [RCV004181830] | uncertain significance | 17 | 79084669 | 79084669 | Human | | name |
| 155977589 | CV2342906 | single nucleotide variant | NM_001042573.3(ENGASE):c.2074G>A (p.Ala692Thr) | not specified [RCV004189938] | uncertain significance | 17 | 79086191 | 79086191 | Human | | name |
| 155924096 | CV2347621 | single nucleotide variant | NM_001042573.3(ENGASE):c.1261G>A (p.Val421Ile) | not specified [RCV004200558] | uncertain significance | 17 | 79083770 | 79083770 | Human | | name |
| 156184112 | CV2349894 | single nucleotide variant | NM_001042573.3(ENGASE):c.2177G>A (p.Arg726Gln) | not specified [RCV004206311] | uncertain significance | 17 | 79086294 | 79086294 | Human | | name |
| 156193747 | CV2351827 | single nucleotide variant | NM_001042573.3(ENGASE):c.1055G>A (p.Arg352Gln) | not specified [RCV004197973] | uncertain significance | 17 | 79083036 | 79083036 | Human | | name |
| 156137233 | CV2357374 | single nucleotide variant | NM_001042573.3(ENGASE):c.1399G>A (p.Val467Ile) | not specified [RCV004200260] | likely benign | 17 | 79083908 | 79083908 | Human | | name |
| 155983327 | CV2371260 | single nucleotide variant | NM_001042573.3(ENGASE):c.1882C>T (p.Arg628Cys) | not specified [RCV004220997] | uncertain significance | 17 | 79085999 | 79085999 | Human | | name |
| 329394021 | CV2450027 | single nucleotide variant | NM_001042573.3(ENGASE):c.1355A>G (p.His452Arg) | not specified [RCV004269081] | uncertain significance | 17 | 79083864 | 79083864 | Human | | name |
| 401728355 | CV2672892 | single nucleotide variant | NM_001042573.3(ENGASE):c.1280T>G (p.Leu427Arg) | not specified [RCV004283898] | uncertain significance | 17 | 79083789 | 79083789 | Human | | name |
| 401742637 | CV2673834 | single nucleotide variant | NM_001042573.3(ENGASE):c.1305G>C (p.Leu435Phe) | not specified [RCV004293217] | uncertain significance | 17 | 79083814 | 79083814 | Human | | name |
| 401767892 | CV2677850 | single nucleotide variant | NM_001042573.3(ENGASE):c.1201G>A (p.Val401Ile) | not specified [RCV004294346] | uncertain significance | 17 | 79083540 | 79083540 | Human | | name |
| 401781970 | CV2690030 | single nucleotide variant | NM_001042573.3(ENGASE):c.1252G>C (p.Glu418Gln) | not specified [RCV004299905] | uncertain significance | 17 | 79083761 | 79083761 | Human | | name |
| 401741731 | CV2697615 | single nucleotide variant | NM_001042573.3(ENGASE):c.1449T>G (p.Phe483Leu) | not specified [RCV004298363] | uncertain significance | 17 | 79084544 | 79084544 | Human | | name |
| 401773444 | CV2698216 | single nucleotide variant | NM_001042573.3(ENGASE):c.1915C>T (p.Pro639Ser) | not specified [RCV004304781] | uncertain significance | 17 | 79086032 | 79086032 | Human | | name |
| 401862797 | CV2758939 | single nucleotide variant | NM_001042573.3(ENGASE):c.1967C>T (p.Ser656Leu) | not specified [RCV004340016] | uncertain significance | 17 | 79086084 | 79086084 | Human | | name |
| 401891823 | CV2780822 | single nucleotide variant | NM_001042573.3(ENGASE):c.2048T>C (p.Met683Thr) | not specified [RCV004352140] | uncertain significance | 17 | 79086165 | 79086165 | Human | | name |
| 405756271 | CV3245118 | single nucleotide variant | NM_001042573.3(ENGASE):c.1114A>G (p.Lys372Glu) | not specified [RCV004382750] | uncertain significance | 17 | 79083095 | 79083095 | Human | | name |
| 405756277 | CV3245119 | single nucleotide variant | NM_001042573.3(ENGASE):c.1205C>T (p.Thr402Met) | not specified [RCV004382751] | uncertain significance | 17 | 79083544 | 79083544 | Human | | name |
| 405756284 | CV3245120 | single nucleotide variant | NM_001042573.3(ENGASE):c.1232G>A (p.Arg411Gln) | not specified [RCV004382752] | uncertain significance | 17 | 79083571 | 79083571 | Human | | name |
| 405756291 | CV3245121 | single nucleotide variant | NM_001042573.3(ENGASE):c.1273T>C (p.Tyr425His) | not specified [RCV004382753] | uncertain significance | 17 | 79083782 | 79083782 | Human | | name |
| 405756676 | CV3245122 | single nucleotide variant | NM_001042573.3(ENGASE):c.1474A>G (p.Lys492Glu) | not specified [RCV004382754] | uncertain significance | 17 | 79084569 | 79084569 | Human | | name |
| 405756305 | CV3245123 | single nucleotide variant | NM_001042573.3(ENGASE):c.1555G>A (p.Gly519Ser) | not specified [RCV004382755] | likely benign | 17 | 79084650 | 79084650 | Human | | name |
| 405756311 | CV3245124 | single nucleotide variant | NM_001042573.3(ENGASE):c.1624C>T (p.Leu542Phe) | not specified [RCV004382756] | uncertain significance | 17 | 79085266 | 79085266 | Human | | name |
| 405756316 | CV3245125 | single nucleotide variant | NM_001042573.3(ENGASE):c.1763C>T (p.Pro588Leu) | not specified [RCV004382757] | uncertain significance | 17 | 79085682 | 79085682 | Human | | name |
| 405756326 | CV3245126 | single nucleotide variant | NM_001042573.3(ENGASE):c.1774C>T (p.Arg592Trp) | not specified [RCV004382758] | uncertain significance | 17 | 79085693 | 79085693 | Human | | name |
| 405756333 | CV3245127 | single nucleotide variant | NM_001042573.3(ENGASE):c.1864G>A (p.Val622Ile) | not specified [RCV004382759] | uncertain significance | 17 | 79085981 | 79085981 | Human | | name |
| 405756340 | CV3245128 | single nucleotide variant | NM_001042573.3(ENGASE):c.1906C>T (p.Arg636Trp) | not specified [RCV004382760] | uncertain significance | 17 | 79086023 | 79086023 | Human | | name |
| 405756349 | CV3245129 | single nucleotide variant | NM_001042573.3(ENGASE):c.1972G>A (p.Val658Ile) | not specified [RCV004382761] | uncertain significance | 17 | 79086089 | 79086089 | Human | | name |
| 405756362 | CV3245131 | single nucleotide variant | NM_001042573.3(ENGASE):c.2059C>G (p.Leu687Val) | not specified [RCV004382763] | uncertain significance | 17 | 79086176 | 79086176 | Human | | name |
| 405756371 | CV3245132 | single nucleotide variant | NM_001042573.3(ENGASE):c.2077A>T (p.Thr693Ser) | not specified [RCV004382764] | uncertain significance | 17 | 79086194 | 79086194 | Human | | name |
| 407507215 | CV3435051 | single nucleotide variant | NM_001042573.3(ENGASE):c.1872C>G (p.Ile624Met) | not specified [RCV004625026] | uncertain significance | 17 | 79085989 | 79085989 | Human | | name |
| 407507217 | CV3435052 | single nucleotide variant | NM_001042573.3(ENGASE):c.1022G>A (p.Arg341Gln) | not specified [RCV004625027] | uncertain significance | 17 | 79082047 | 79082047 | Human | | name |
| 407507220 | CV3435053 | single nucleotide variant | NM_001042573.3(ENGASE):c.1037A>G (p.Lys346Arg) | not specified [RCV004625028] | uncertain significance | 17 | 79082062 | 79082062 | Human | | name |
| 407507222 | CV3435054 | single nucleotide variant | NM_001042573.3(ENGASE):c.1489A>G (p.Met497Val) | not specified [RCV004625029] | uncertain significance | 17 | 79084584 | 79084584 | Human | | name |
| 407507224 | CV3435055 | single nucleotide variant | NM_001042573.3(ENGASE):c.1541C>T (p.Thr514Ile) | not specified [RCV004625030] | uncertain significance | 17 | 79084636 | 79084636 | Human | | name |
| 597686171 | CV3664498 | single nucleotide variant | NM_001042573.3(ENGASE):c.2197G>A (p.Gly733Ser) | not specified [RCV004914861] | uncertain significance | 17 | 79086314 | 79086314 | Human | | name |
| 597686231 | CV3664505 | single nucleotide variant | NM_001042573.3(ENGASE):c.1567A>C (p.Ile523Leu) | not specified [RCV004914868] | uncertain significance | 17 | 79084662 | 79084662 | Human | | name |
| 597747268 | CV3664506 | single nucleotide variant | NM_001042573.3(ENGASE):c.2129A>G (p.Asp710Gly) | not specified [RCV004922893] | uncertain significance | 17 | 79086246 | 79086246 | Human | | name |
| 597686242 | CV3664507 | single nucleotide variant | NM_001042573.3(ENGASE):c.2213T>C (p.Leu738Pro) | not specified [RCV004914869] | uncertain significance | 17 | 79086330 | 79086330 | Human | | name |
| 597747273 | CV3664508 | single nucleotide variant | NM_001042573.3(ENGASE):c.2206G>C (p.Val736Leu) | not specified [RCV004922894] | uncertain significance | 17 | 79086323 | 79086323 | Human | | name |
| 598269346 | CV3954241 | single nucleotide variant | NM_001042573.3(ENGASE):c.1259C>T (p.Ala420Val) | not specified [RCV005327316] | uncertain significance | 17 | 79083768 | 79083768 | Human | | name |
| 598269352 | CV3954242 | single nucleotide variant | NM_001042573.3(ENGASE):c.1907G>A (p.Arg636Gln) | not specified [RCV005327317] | uncertain significance | 17 | 79086024 | 79086024 | Human | | name |
| 598269368 | CV3954245 | single nucleotide variant | NM_001042573.3(ENGASE):c.1001G>C (p.Arg334Pro) | not specified [RCV005327320] | uncertain significance | 17 | 79082026 | 79082026 | Human | | name |
| 598269373 | CV3954246 | single nucleotide variant | NM_001042573.3(ENGASE):c.1391C>T (p.Ser464Phe) | not specified [RCV005327321] | uncertain significance | 17 | 79083900 | 79083900 | Human | | name |
| 598269378 | CV3954247 | single nucleotide variant | NM_001042573.3(ENGASE):c.1838T>C (p.Leu613Pro) | not specified [RCV005327322] | uncertain significance | 17 | 79085955 | 79085955 | Human | | name |
| 598269405 | CV3954252 | single nucleotide variant | NM_001042573.3(ENGASE):c.1622C>T (p.Pro541Leu) | not specified [RCV005327327] | uncertain significance | 17 | 79085264 | 79085264 | Human | | name |
| 15173088 | CV715769 | single nucleotide variant | NM_001042573.3(ENGASE):c.1664G>A (p.Arg555His) | not provided [RCV000972544] | benign | 17 | 79085306 | 79085306 | Human | | name |