| 156301347 | CV2245071 | single nucleotide variant | NM_015292.3(ESYT1):c.1474-28G>A | not specified [RCV004104789] | uncertain significance | 12 | 56134082 | 56134082 | Human | | name |
| 597691407 | CV3665133 | single nucleotide variant | NM_015292.3(ESYT1):c.1474-26T>C | not specified [RCV004915374] | uncertain significance | 12 | 56134084 | 56134084 | Human | | name |
| 156044701 | CV2340125 | single nucleotide variant | NM_015292.3(ESYT1):c.19G>A (p.Glu7Lys) | not specified [RCV004192364] | uncertain significance | 12 | 56128338 | 56128338 | Human | | name |
| 15160387 | CV725199 | single nucleotide variant | NM_015292.3(ESYT1):c.246C>G (p.Leu82=) | not provided [RCV000881373] | benign | 12 | 56128565 | 56128565 | Human | | name |
| 156027577 | CV2242472 | single nucleotide variant | NM_015292.3(ESYT1):c.82C>T (p.Pro28Ser) | not specified [RCV004111463] | uncertain significance | 12 | 56128401 | 56128401 | Human | | name |
| 155969034 | CV2391530 | single nucleotide variant | NM_015292.3(ESYT1):c.85G>A (p.Ala29Thr) | not specified [RCV004239915] | likely benign | 12 | 56128404 | 56128404 | Human | | name |
| 401727126 | CV2684480 | single nucleotide variant | NM_015292.3(ESYT1):c.83C>G (p.Pro28Arg) | not specified [RCV004291553] | uncertain significance | 12 | 56128402 | 56128402 | Human | | name |
| 407481218 | CV3438348 | single nucleotide variant | NM_015292.3(ESYT1):c.38C>T (p.Pro13Leu) | not specified [RCV004618166] | uncertain significance | 12 | 56128357 | 56128357 | Human | | name |
| 597691417 | CV3665134 | single nucleotide variant | NM_015292.3(ESYT1):c.35G>A (p.Ser12Asn) | not specified [RCV004915375] | uncertain significance | 12 | 56128354 | 56128354 | Human | | name |
| 598193260 | CV3958302 | single nucleotide variant | NM_015292.3(ESYT1):c.40A>G (p.Met14Val) | not specified [RCV005335152] | likely benign | 12 | 56128359 | 56128359 | Human | | name |
| 156346254 | CV2373044 | single nucleotide variant | NM_015292.3(ESYT1):c.286G>A (p.Asp96Asn) | not specified [RCV004224070] | uncertain significance | 12 | 56128605 | 56128605 | Human | | name |
| 401725620 | CV2721859 | single nucleotide variant | NM_015292.3(ESYT1):c.287A>G (p.Asp96Gly) | not specified [RCV004326371] | uncertain significance | 12 | 56128606 | 56128606 | Human | | name |
| 405758223 | CV3255968 | single nucleotide variant | NM_015292.3(ESYT1):c.145G>T (p.Gly49Cys) | not specified [RCV004383033] | uncertain significance | 12 | 56128464 | 56128464 | Human | | name |
| 597691465 | CV3665139 | single nucleotide variant | NM_015292.3(ESYT1):c.283C>T (p.Arg95Cys) | not specified [RCV004915380] | uncertain significance | 12 | 56128602 | 56128602 | Human | | name |
| 597691518 | CV3665144 | single nucleotide variant | NM_015292.3(ESYT1):c.232G>A (p.Val78Met) | not specified [RCV004915385] | uncertain significance | 12 | 56128551 | 56128551 | Human | | name |
| 15187020 | CV702420 | single nucleotide variant | NM_015292.3(ESYT1):c.1584G>A (p.Ala528=) | not provided [RCV000953462] | benign | 12 | 56134380 | 56134380 | Human | | name |
| 15107886 | CV713639 | single nucleotide variant | NM_015292.3(ESYT1):c.1821G>T (p.Thr607=) | not provided [RCV000960381] | benign | 12 | 56137256 | 56137256 | Human | | name |
| 15139036 | CV713640 | single nucleotide variant | NM_015292.3(ESYT1):c.2121C>T (p.Ile707=) | not provided [RCV000965896] | benign | 12 | 56137837 | 56137837 | Human | | name |
| 156318095 | CV2251139 | single nucleotide variant | NM_015292.3(ESYT1):c.799C>T (p.Arg267Cys) | not specified [RCV004123673] | uncertain significance | 12 | 56131561 | 56131561 | Human | | name |
| 156165691 | CV2270363 | single nucleotide variant | NM_015292.3(ESYT1):c.574C>T (p.Arg192Cys) | not specified [RCV004135563] | uncertain significance | 12 | 56131046 | 56131046 | Human | | name |
| 156013590 | CV2300453 | single nucleotide variant | NM_015292.3(ESYT1):c.371A>G (p.His124Arg) | not specified [RCV004153645] | uncertain significance | 12 | 56128690 | 56128690 | Human | | name |
| 156203801 | CV2300763 | single nucleotide variant | NM_015292.3(ESYT1):c.362A>G (p.Tyr121Cys) | not specified [RCV004155694] | uncertain significance | 12 | 56128681 | 56128681 | Human | | name |
| 156359530 | CV2328228 | single nucleotide variant | NM_015292.3(ESYT1):c.424C>G (p.Leu142Val) | not specified [RCV004173317] | uncertain significance | 12 | 56130615 | 56130615 | Human | | name |
| 156079274 | CV2337261 | single nucleotide variant | NM_015292.3(ESYT1):c.752T>C (p.Ile251Thr) | not specified [RCV004185715] | uncertain significance | 12 | 56131514 | 56131514 | Human | | name |
| 156185158 | CV2346497 | single nucleotide variant | NM_015292.3(ESYT1):c.481C>G (p.Leu161Val) | not specified [RCV004206420] | uncertain significance | 12 | 56130839 | 56130839 | Human | | name |
| 155996967 | CV2398632 | single nucleotide variant | NM_015292.3(ESYT1):c.784A>C (p.Met262Leu) | not specified [RCV004237939] | uncertain significance | 12 | 56131546 | 56131546 | Human | | name |
| 329357565 | CV2427767 | single nucleotide variant | NM_015292.3(ESYT1):c.298C>G (p.Arg100Gly) | not specified [RCV004252548] | uncertain significance | 12 | 56128617 | 56128617 | Human | | name |
| 329372965 | CV2451747 | single nucleotide variant | NM_015292.3(ESYT1):c.803C>T (p.Pro268Leu) | not specified [RCV004276440] | uncertain significance | 12 | 56131565 | 56131565 | Human | | name |
| 401728020 | CV2675914 | single nucleotide variant | NM_015292.3(ESYT1):c.618G>T (p.Gln206His) | not specified [RCV004281913] | uncertain significance | 12 | 56131090 | 56131090 | Human | | name |
| 401744726 | CV2697059 | single nucleotide variant | NM_015292.3(ESYT1):c.671A>C (p.Glu224Ala) | not specified [RCV004293044] | uncertain significance | 12 | 56131273 | 56131273 | Human | | name |
| 401760818 | CV2715943 | single nucleotide variant | NM_015292.3(ESYT1):c.377A>G (p.Glu126Gly) | not specified [RCV004329046] | uncertain significance | 12 | 56128696 | 56128696 | Human | | name |
| 405758290 | CV3255978 | single nucleotide variant | NM_015292.3(ESYT1):c.307C>G (p.Arg103Gly) | not specified [RCV004383043] | uncertain significance | 12 | 56128626 | 56128626 | Human | | name |
| 405758302 | CV3255980 | single nucleotide variant | NM_015292.3(ESYT1):c.577A>G (p.Ile193Val) | not specified [RCV004383045] | uncertain significance | 12 | 56131049 | 56131049 | Human | | name |
| 405758309 | CV3255981 | single nucleotide variant | NM_015292.3(ESYT1):c.907G>T (p.Val303Leu) | not specified [RCV004383046] | uncertain significance | 12 | 56132255 | 56132255 | Human | | name |
| 405758323 | CV3255983 | single nucleotide variant | NM_015292.3(ESYT1):c.920G>A (p.Arg307Gln) | not specified [RCV004383048] | uncertain significance | 12 | 56132268 | 56132268 | Human | | name |
| 407481213 | CV3438347 | single nucleotide variant | NM_015292.3(ESYT1):c.560G>T (p.Gly187Val) | not specified [RCV004618165] | uncertain significance | 12 | 56130918 | 56130918 | Human | | name |
| 407481234 | CV3438351 | single nucleotide variant | NM_015292.3(ESYT1):c.299G>A (p.Arg100Gln) | not specified [RCV004618169] | uncertain significance | 12 | 56128618 | 56128618 | Human | | name |
| 407481239 | CV3438352 | single nucleotide variant | NM_015292.3(ESYT1):c.548G>T (p.Arg183Leu) | not specified [RCV004618170] | uncertain significance | 12 | 56130906 | 56130906 | Human | | name |
| 407481250 | CV3438354 | single nucleotide variant | NM_015292.3(ESYT1):c.564A>C (p.Glu188Asp) | not specified [RCV004618172] | uncertain significance | 12 | 56130922 | 56130922 | Human | | name |
| 407481255 | CV3438355 | single nucleotide variant | NM_015292.3(ESYT1):c.590A>C (p.Lys197Thr) | not specified [RCV004618173] | uncertain significance | 12 | 56131062 | 56131062 | Human | | name |
| 597691428 | CV3665135 | single nucleotide variant | NM_015292.3(ESYT1):c.730C>T (p.Arg244Trp) | not specified [RCV004915376] | uncertain significance | 12 | 56131492 | 56131492 | Human | | name |
| 597691475 | CV3665140 | single nucleotide variant | NM_015292.3(ESYT1):c.724G>T (p.Val242Phe) | not specified [RCV004915381] | uncertain significance | 12 | 56131486 | 56131486 | Human | | name |
| 597691494 | CV3665142 | single nucleotide variant | NM_015292.3(ESYT1):c.871G>C (p.Asp291His) | not specified [RCV004915383] | uncertain significance | 12 | 56132219 | 56132219 | Human | | name |
| 598193245 | CV3958299 | single nucleotide variant | NM_015292.3(ESYT1):c.995G>A (p.Arg332Gln) | not specified [RCV005335149] | uncertain significance | 12 | 56132431 | 56132431 | Human | | name |
| 598193270 | CV3958304 | single nucleotide variant | NM_015292.3(ESYT1):c.784A>G (p.Met262Val) | not specified [RCV005335154] | uncertain significance | 12 | 56131546 | 56131546 | Human | | name |
| 156263449 | CV2201168 | single nucleotide variant | NM_015292.3(ESYT1):c.1016G>A (p.Arg339Gln) | not specified [RCV004077319] | uncertain significance | 12 | 56132452 | 56132452 | Human | | name |
| 156371006 | CV2204403 | single nucleotide variant | NM_015292.3(ESYT1):c.2530G>A (p.Val844Ile) | not specified [RCV004079216] | likely benign | 12 | 56138951 | 56138951 | Human | | name |
| 156329941 | CV2213941 | single nucleotide variant | NM_015292.3(ESYT1):c.1910C>T (p.Thr637Met) | not specified [RCV004083665] | uncertain significance | 12 | 56137345 | 56137345 | Human | | name |
| 155923338 | CV2215594 | single nucleotide variant | NM_015292.3(ESYT1):c.1316A>C (p.Gln439Pro) | not specified [RCV004089355] | uncertain significance | 12 | 56133610 | 56133610 | Human | | name |
| 155967253 | CV2216818 | single nucleotide variant | NM_015292.3(ESYT1):c.2822C>T (p.Ser941Leu) | not specified [RCV004083253] | uncertain significance | 12 | 56142666 | 56142666 | Human | | name |
| 156401690 | CV2217551 | single nucleotide variant | NM_015292.3(ESYT1):c.2805T>A (p.Ser935Arg) | not specified [RCV004090086] | uncertain significance | 12 | 56142649 | 56142649 | Human | | name |
| 156023614 | CV2233513 | single nucleotide variant | NM_015292.3(ESYT1):c.1739G>T (p.Ser580Ile) | not specified [RCV004099996] | uncertain significance | 12 | 56136850 | 56136850 | Human | | name |
| 156230002 | CV2235019 | single nucleotide variant | NM_015292.3(ESYT1):c.1058A>G (p.Glu353Gly) | not specified [RCV004113206] | uncertain significance | 12 | 56132494 | 56132494 | Human | | name |
| 156315931 | CV2250841 | single nucleotide variant | NM_015292.3(ESYT1):c.2166C>A (p.Asp722Glu) | not specified [RCV004129698] | uncertain significance | 12 | 56137882 | 56137882 | Human | | name |
| 156023710 | CV2273796 | single nucleotide variant | NM_015292.3(ESYT1):c.1444G>A (p.Val482Ile) | not specified [RCV004132434] | uncertain significance | 12 | 56133844 | 56133844 | Human | | name |
| 155990998 | CV2281026 | single nucleotide variant | NM_015292.3(ESYT1):c.1979T>C (p.Ile660Thr) | not specified [RCV004145516] | uncertain significance | 12 | 56137539 | 56137539 | Human | | name |
| 155998251 | CV2287127 | single nucleotide variant | NM_015292.3(ESYT1):c.2432C>T (p.Pro811Leu) | not specified [RCV004144994] | uncertain significance | 12 | 56138498 | 56138498 | Human | | name |
| 156186815 | CV2292419 | single nucleotide variant | NM_015292.3(ESYT1):c.1500C>A (p.Asn500Lys) | not specified [RCV004150218] | uncertain significance | 12 | 56134136 | 56134136 | Human | | name |
| 156337437 | CV2343051 | single nucleotide variant | NM_015292.3(ESYT1):c.1898G>A (p.Arg633Gln) | not specified [RCV004192649] | uncertain significance | 12 | 56137333 | 56137333 | Human | | name |
| 156105858 | CV2352566 | single nucleotide variant | NM_015292.3(ESYT1):c.1601A>C (p.Gln534Pro) | not specified [RCV004203063] | uncertain significance | 12 | 56134397 | 56134397 | Human | | name |
| 156338639 | CV2370710 | single nucleotide variant | NM_015292.3(ESYT1):c.2329T>A (p.Leu777Ile) | not specified [RCV004209114] | uncertain significance | 12 | 56138264 | 56138264 | Human | | name |
| 156149612 | CV2394590 | single nucleotide variant | NM_015292.3(ESYT1):c.2543G>T (p.Ser848Ile) | not specified [RCV004240939] | uncertain significance | 12 | 56138964 | 56138964 | Human | | name |
| 155933481 | CV2399331 | single nucleotide variant | NM_015292.3(ESYT1):c.2515C>A (p.Gln839Lys) | not specified [RCV004242621] | uncertain significance | 12 | 56138936 | 56138936 | Human | | name |
| 329367709 | CV2427518 | single nucleotide variant | NM_015292.3(ESYT1):c.1457G>A (p.Arg486Gln) | not specified [RCV004250156] | uncertain significance | 12 | 56133857 | 56133857 | Human | | name |
| 329375740 | CV2431482 | single nucleotide variant | NM_015292.3(ESYT1):c.2908G>A (p.Gly970Arg) | not specified [RCV004254644] | uncertain significance | 12 | 56142854 | 56142854 | Human | | name |
| 329365832 | CV2441140 | single nucleotide variant | NM_015292.3(ESYT1):c.1174G>A (p.Glu392Lys) | not specified [RCV004263540] | uncertain significance | 12 | 56132731 | 56132731 | Human | | name |
| 329363515 | CV2442252 | single nucleotide variant | NM_015292.3(ESYT1):c.1745G>T (p.Gly582Val) | not specified [RCV004264739] | uncertain significance | 12 | 56136856 | 56136856 | Human | | name |
| 329368968 | CV2450481 | single nucleotide variant | NM_015292.3(ESYT1):c.2936T>C (p.Leu979Pro) | not specified [RCV004265402] | uncertain significance | 12 | 56142882 | 56142882 | Human | | name |
| 401736358 | CV2688767 | single nucleotide variant | NM_015292.3(ESYT1):c.1981G>A (p.Ala661Thr) | not specified [RCV004303793] | uncertain significance | 12 | 56137541 | 56137541 | Human | | name |
| 401762249 | CV2699572 | single nucleotide variant | NM_015292.3(ESYT1):c.1588C>T (p.Arg530Trp) | not specified [RCV004299769] | uncertain significance | 12 | 56134384 | 56134384 | Human | | name |
| 401765039 | CV2701757 | single nucleotide variant | NM_015292.3(ESYT1):c.2054G>A (p.Arg685Gln) | not specified [RCV004314156] | uncertain significance | 12 | 56137614 | 56137614 | Human | | name |
| 401738699 | CV2708109 | single nucleotide variant | NM_015292.3(ESYT1):c.1282G>A (p.Val428Ile) | not specified [RCV004311485] | uncertain significance | 12 | 56133454 | 56133454 | Human | | name |
| 401783761 | CV2723923 | single nucleotide variant | NM_015292.3(ESYT1):c.1756A>G (p.Arg586Gly) | not specified [RCV004327834] | uncertain significance | 12 | 56136867 | 56136867 | Human | | name |
| 401770735 | CV2726244 | single nucleotide variant | NM_015292.3(ESYT1):c.2567C>T (p.Pro856Leu) | not specified [RCV004326700] | uncertain significance | 12 | 56138988 | 56138988 | Human | | name |
| 401893211 | CV2755296 | single nucleotide variant | NM_015292.3(ESYT1):c.2996G>A (p.Arg999Gln) | not specified [RCV004337470] | uncertain significance | 12 | 56143025 | 56143025 | Human | | name |
| 401866431 | CV2762642 | single nucleotide variant | NM_015292.3(ESYT1):c.2134C>T (p.Pro712Ser) | not specified [RCV004340205] | uncertain significance | 12 | 56137850 | 56137850 | Human | | name |
| 401862546 | CV2768357 | single nucleotide variant | NM_015292.3(ESYT1):c.1300C>T (p.Pro434Ser) | not specified [RCV004350615] | uncertain significance | 12 | 56133594 | 56133594 | Human | | name |
| 401865541 | CV2778812 | single nucleotide variant | NM_015292.3(ESYT1):c.1999G>A (p.Gly667Arg) | not specified [RCV004346710] | uncertain significance | 12 | 56137559 | 56137559 | Human | | name |
| 401885509 | CV2783318 | single nucleotide variant | NM_015292.3(ESYT1):c.1295G>T (p.Trp432Leu) | not specified [RCV004363918] | uncertain significance | 12 | 56133589 | 56133589 | Human | | name |
| 401877866 | CV2786832 | single nucleotide variant | NM_015292.3(ESYT1):c.1363G>T (p.Ala455Ser) | not specified [RCV004365993] | uncertain significance | 12 | 56133657 | 56133657 | Human | | name |
| 405758209 | CV3255966 | single nucleotide variant | NM_015292.3(ESYT1):c.1121T>C (p.Ile374Thr) | not specified [RCV004383031] | uncertain significance | 12 | 56132557 | 56132557 | Human | | name |
| 405758217 | CV3255967 | single nucleotide variant | NM_015292.3(ESYT1):c.1219C>G (p.Pro407Ala) | not specified [RCV004383032] | uncertain significance | 12 | 56132776 | 56132776 | Human | | name |
| 405758230 | CV3255969 | single nucleotide variant | NM_015292.3(ESYT1):c.1482G>T (p.Lys494Asn) | not specified [RCV004383034] | uncertain significance | 12 | 56134118 | 56134118 | Human | | name |
| 405758236 | CV3255970 | single nucleotide variant | NM_015292.3(ESYT1):c.1484G>A (p.Gly495Glu) | not specified [RCV004383035] | uncertain significance | 12 | 56134120 | 56134120 | Human | | name |
| 405758248 | CV3255972 | single nucleotide variant | NM_015292.3(ESYT1):c.1528G>A (p.Val510Met) | not specified [RCV004383037] | uncertain significance | 12 | 56134164 | 56134164 | Human | | name |
| 405758256 | CV3255973 | single nucleotide variant | NM_015292.3(ESYT1):c.1793T>G (p.Leu598Trp) | not specified [RCV004383038] | uncertain significance | 12 | 56137228 | 56137228 | Human | | name |
| 405758262 | CV3255974 | single nucleotide variant | NM_015292.3(ESYT1):c.1879A>G (p.Ser627Gly) | not specified [RCV004383039] | uncertain significance | 12 | 56137314 | 56137314 | Human | | name |
| 405758270 | CV3255975 | single nucleotide variant | NM_015292.3(ESYT1):c.2674G>C (p.Asp892His) | not specified [RCV004383040] | uncertain significance | 12 | 56142366 | 56142366 | Human | | name |
| 405758278 | CV3255976 | single nucleotide variant | NM_015292.3(ESYT1):c.2852C>G (p.Ala951Gly) | not specified [RCV004383041] | uncertain significance | 12 | 56142696 | 56142696 | Human | | name |
| 405758284 | CV3255977 | single nucleotide variant | NM_015292.3(ESYT1):c.2944T>C (p.Tyr982His) | not specified [RCV004383042] | uncertain significance | 12 | 56142890 | 56142890 | Human | | name |
| 407481229 | CV3438350 | single nucleotide variant | NM_015292.3(ESYT1):c.2597G>A (p.Arg866Gln) | not specified [RCV004618168] | uncertain significance | 12 | 56142289 | 56142289 | Human | | name |
| 407481244 | CV3438353 | single nucleotide variant | NM_015292.3(ESYT1):c.1117G>T (p.Val373Phe) | not specified [RCV004618171] | uncertain significance | 12 | 56132553 | 56132553 | Human | | name |
| 597691380 | CV3665130 | single nucleotide variant | NM_015292.3(ESYT1):c.2572A>G (p.Thr858Ala) | not specified [RCV004915371] | uncertain significance | 12 | 56138993 | 56138993 | Human | | name |
| 597691391 | CV3665131 | single nucleotide variant | NM_015292.3(ESYT1):c.2311C>T (p.Arg771Cys) | not specified [RCV004915372] | uncertain significance | 12 | 56138246 | 56138246 | Human | | name |
| 597691398 | CV3665132 | single nucleotide variant | NM_015292.3(ESYT1):c.1688G>A (p.Arg563His) | not specified [RCV004915373] | uncertain significance | 12 | 56136799 | 56136799 | Human | | name |
| 597691437 | CV3665136 | single nucleotide variant | NM_015292.3(ESYT1):c.1559C>T (p.Thr520Ile) | not specified [RCV004915377] | uncertain significance | 12 | 56134355 | 56134355 | Human | | name |
| 597691447 | CV3665137 | single nucleotide variant | NM_015292.3(ESYT1):c.2312G>A (p.Arg771His) | not specified [RCV004915378] | uncertain significance | 12 | 56138247 | 56138247 | Human | | name |
| 597691455 | CV3665138 | single nucleotide variant | NM_015292.3(ESYT1):c.2122G>A (p.Val708Ile) | not specified [RCV004915379] | uncertain significance | 12 | 56137838 | 56137838 | Human | | name |
| 597691483 | CV3665141 | single nucleotide variant | NM_015292.3(ESYT1):c.2863C>T (p.Arg955Trp) | not specified [RCV004915382] | uncertain significance | 12 | 56142707 | 56142707 | Human | | name |
| 597691506 | CV3665143 | single nucleotide variant | NM_015292.3(ESYT1):c.1928T>G (p.Phe643Cys) | not specified [RCV004915384] | uncertain significance | 12 | 56137363 | 56137363 | Human | | name |
| 598193207 | CV3958292 | single nucleotide variant | NM_015292.3(ESYT1):c.2291G>A (p.Arg764His) | not specified [RCV005335142] | uncertain significance | 12 | 56138226 | 56138226 | Human | | name |
| 598193213 | CV3958293 | single nucleotide variant | NM_015292.3(ESYT1):c.1991G>A (p.Arg664His) | not specified [RCV005335143] | uncertain significance | 12 | 56137551 | 56137551 | Human | | name |
| 598193218 | CV3958294 | single nucleotide variant | NM_015292.3(ESYT1):c.1088G>A (p.Arg363His) | not specified [RCV005335144] | uncertain significance | 12 | 56132524 | 56132524 | Human | | name |
| 598193223 | CV3958295 | single nucleotide variant | NM_015292.3(ESYT1):c.1838G>A (p.Gly613Asp) | not specified [RCV005335145] | uncertain significance | 12 | 56137273 | 56137273 | Human | | name |
| 598193240 | CV3958298 | single nucleotide variant | NM_015292.3(ESYT1):c.1087C>T (p.Arg363Cys) | not specified [RCV005335148] | uncertain significance | 12 | 56132523 | 56132523 | Human | | name |
| 598193254 | CV3958301 | single nucleotide variant | NM_015292.3(ESYT1):c.1248G>A (p.Met416Ile) | not specified [RCV005335151] | uncertain significance | 12 | 56133420 | 56133420 | Human | | name |
| 598193265 | CV3958303 | single nucleotide variant | NM_015292.3(ESYT1):c.1601A>G (p.Gln534Arg) | not specified [RCV005335153] | uncertain significance | 12 | 56134397 | 56134397 | Human | | name |
| 598193276 | CV3958305 | single nucleotide variant | NM_015292.3(ESYT1):c.2417G>T (p.Arg806Leu) | not specified [RCV005335155] | uncertain significance | 12 | 56138483 | 56138483 | Human | | name |
| 598193281 | CV3958306 | single nucleotide variant | NM_015292.3(ESYT1):c.2141A>G (p.Gln714Arg) | not specified [RCV005335156] | uncertain significance | 12 | 56137857 | 56137857 | Human | | name |
| 598193286 | CV3958307 | single nucleotide variant | NM_015292.3(ESYT1):c.1525G>A (p.Asp509Asn) | not specified [RCV005335157] | uncertain significance | 12 | 56134161 | 56134161 | Human | | name |
| 598193296 | CV3958309 | single nucleotide variant | NM_015292.3(ESYT1):c.2749C>G (p.His917Asp) | not specified [RCV005335159] | uncertain significance | 12 | 56142593 | 56142593 | Human | | name |
| 598193302 | CV3958310 | single nucleotide variant | NM_015292.3(ESYT1):c.2855C>G (p.Pro952Arg) | not specified [RCV005335160] | uncertain significance | 12 | 56142699 | 56142699 | Human | | name |
| 598193309 | CV3958311 | single nucleotide variant | NM_015292.3(ESYT1):c.2782A>G (p.Ser928Gly) | not specified [RCV005335161] | uncertain significance | 12 | 56142626 | 56142626 | Human | | name |
| 598193316 | CV3958312 | single nucleotide variant | NM_015292.3(ESYT1):c.2018A>G (p.Lys673Arg) | not specified [RCV005335162] | uncertain significance | 12 | 56137578 | 56137578 | Human | | name |
| 598193322 | CV3958313 | single nucleotide variant | NM_015292.3(ESYT1):c.2426A>G (p.Asp809Gly) | not specified [RCV005335163] | uncertain significance | 12 | 56138492 | 56138492 | Human | | name |
| 598193332 | CV3958315 | single nucleotide variant | NM_015292.3(ESYT1):c.2839A>T (p.Ile947Phe) | not specified [RCV005335165] | uncertain significance | 12 | 56142683 | 56142683 | Human | | name |
| 156255056 | CV2203370 | single nucleotide variant | NM_015292.3(ESYT1):c.3244G>C (p.Glu1082Gln) | not specified [RCV004072599] | uncertain significance | 12 | 56143598 | 56143598 | Human | | name |
| 155902491 | CV2301450 | single nucleotide variant | NM_015292.3(ESYT1):c.3089A>C (p.Lys1030Thr) | not specified [RCV004162381] | uncertain significance | 12 | 56143118 | 56143118 | Human | | name |
| 156286769 | CV2334964 | single nucleotide variant | NM_015292.3(ESYT1):c.3059G>A (p.Arg1020Gln) | not specified [RCV004182061] | uncertain significance | 12 | 56143088 | 56143088 | Human | | name |
| 155931083 | CV2399777 | single nucleotide variant | NM_015292.3(ESYT1):c.3209G>A (p.Arg1070His) | not specified [RCV004245589] | uncertain significance | 12 | 56143317 | 56143317 | Human | | name |
| 401863050 | CV2765914 | single nucleotide variant | NM_015292.3(ESYT1):c.3004G>C (p.Gly1002Arg) | not specified [RCV004337942] | uncertain significance | 12 | 56143033 | 56143033 | Human | | name |
| 401863216 | CV2776827 | single nucleotide variant | NM_015292.3(ESYT1):c.3013C>T (p.Pro1005Ser) | not specified [RCV004357970] | uncertain significance | 12 | 56143042 | 56143042 | Human | | name |
| 405758295 | CV3255979 | single nucleotide variant | NM_015292.3(ESYT1):c.3265G>A (p.Val1089Ile) | not specified [RCV004383044] | uncertain significance | 12 | 56143619 | 56143619 | Human | | name |
| 407481224 | CV3438349 | single nucleotide variant | NM_015292.3(ESYT1):c.3207G>C (p.Glu1069Asp) | not specified [RCV004618167] | uncertain significance | 12 | 56143315 | 56143315 | Human | | name |
| 598193250 | CV3958300 | single nucleotide variant | NM_015292.3(ESYT1):c.3098T>C (p.Leu1033Pro) | not specified [RCV005335150] | uncertain significance | 12 | 56143127 | 56143127 | Human | | name |
| 598193325 | CV3958314 | single nucleotide variant | NM_015292.3(ESYT1):c.3090G>C (p.Lys1030Asn) | not specified [RCV005335164] | uncertain significance | 12 | 56143119 | 56143119 | Human | | name |
| 8627336 | CV82480 | single nucleotide variant | NM_001184796.1(ESYT1):c.2091C>T (p.Phe697=) | Malignant melanoma [RCV000062559] | not provided | 12 | 56137621 | 56137621 | Human | | name |
| 8634793 | CV90013 | single nucleotide variant | NM_001184796.1(ESYT1):c.2223G>A (p.Leu741=) | Malignant melanoma [RCV000070110] | not provided | 12 | 56137909 | 56137909 | Human | | name |