| 401937449 | CV2818865 | single nucleotide variant | NM_001130072.2(EPN1):c.-76G>A | not provided [RCV003415460] | likely benign | 19 | 55678552 | 55678552 | Human | | name |
| 405721902 | CV3249097 | single nucleotide variant | NM_001130072.2(EPN1):c.-42C>T | not specified [RCV004378102] | uncertain significance | 19 | 55678586 | 55678586 | Human | | name |
| 598169369 | CV3965410 | single nucleotide variant | NM_001130072.2(EPN1):c.-36G>A | not specified [RCV005330418] | uncertain significance | 19 | 55678592 | 55678592 | Human | | name |
| 156315536 | CV2192914 | single nucleotide variant | NM_001130072.2(EPN1):c.-101-923C>G | not specified [RCV004069476] | uncertain significance | 19 | 55677604 | 55677604 | Human | | name |
| 156035345 | CV2376755 | single nucleotide variant | NM_001130072.2(EPN1):c.-101-874C>G | not specified [RCV004227035] | uncertain significance | 19 | 55677653 | 55677653 | Human | | name |
| 401749762 | CV2710965 | single nucleotide variant | NM_001130072.2(EPN1):c.-101-942A>G | not specified [RCV004310676] | uncertain significance | 19 | 55677585 | 55677585 | Human | | name |
| 401860003 | CV2765432 | single nucleotide variant | NM_001130072.2(EPN1):c.-101-844A>G | not specified [RCV004341751] | likely benign | 19 | 55677683 | 55677683 | Human | | name |
| 401937448 | CV2818864 | single nucleotide variant | NM_001130072.2(EPN1):c.-101-923C>T | not provided [RCV003415459] | likely benign | 19 | 55677604 | 55677604 | Human | | name |
| 405721790 | CV3249083 | single nucleotide variant | NM_001130072.2(EPN1):c.-101-901G>A | not specified [RCV004378088] | uncertain significance | 19 | 55677626 | 55677626 | Human | | name |
| 405721822 | CV3249087 | single nucleotide variant | NM_001130072.2(EPN1):c.-101-874C>T | not specified [RCV004378092] | uncertain significance | 19 | 55677653 | 55677653 | Human | | name |
| 405721881 | CV3249094 | single nucleotide variant | NM_001130072.2(EPN1):c.-101-834C>T | not specified [RCV004378099] | uncertain significance | 19 | 55677693 | 55677693 | Human | | name |
| 405721895 | CV3249096 | single nucleotide variant | NM_001130072.2(EPN1):c.-101-813C>T | not specified [RCV004378101] | uncertain significance | 19 | 55677714 | 55677714 | Human | | name |
| 597803825 | CV3671185 | single nucleotide variant | NM_001130072.2(EPN1):c.-101-870T>G | not specified [RCV004907385] | uncertain significance | 19 | 55677657 | 55677657 | Human | | name |
| 597748043 | CV3671191 | single nucleotide variant | NM_001130072.2(EPN1):c.-101-886G>A | not specified [RCV004923024] | uncertain significance | 19 | 55677641 | 55677641 | Human | | name |
| 155962553 | CV2388255 | single nucleotide variant | NM_001130072.2(EPN1):c.-101-1340T>C | not specified [RCV004234713] | uncertain significance | 19 | 55677187 | 55677187 | Human | | name |
| 156226005 | CV2390725 | single nucleotide variant | NM_001130072.2(EPN1):c.-101-1336T>C | not specified [RCV004241021] | uncertain significance | 19 | 55677191 | 55677191 | Human | | name |
| 598169363 | CV3965409 | single nucleotide variant | NM_001130072.2(EPN1):c.-101-1351G>T | not specified [RCV005330417] | uncertain significance | 19 | 55677176 | 55677176 | Human | | name |
| 405721909 | CV3249098 | single nucleotide variant | NM_001130072.2(EPN1):c.59C>G (p.Ala20Gly) | not specified [RCV004378103] | uncertain significance | 19 | 55678686 | 55678686 | Human | | name |
| 597748030 | CV3671188 | single nucleotide variant | NM_001130072.2(EPN1):c.232A>G (p.Met78Val) | not specified [RCV004923022] | uncertain significance | 19 | 55685399 | 55685399 | Human | | name |
| 598169376 | CV3965411 | single nucleotide variant | NM_001130072.2(EPN1):c.243G>A (p.Met81Ile) | not specified [RCV005330419] | uncertain significance | 19 | 55685410 | 55685410 | Human | | name |
| 155923578 | CV2217668 | single nucleotide variant | NM_001130072.2(EPN1):c.808G>C (p.Ala270Pro) | not specified [RCV004083863] | likely benign | 19 | 55691799 | 55691799 | Human | | name |
| 156237471 | CV2224211 | single nucleotide variant | NM_001130072.2(EPN1):c.850G>A (p.Ala284Thr) | not specified [RCV004096052] | uncertain significance | 19 | 55691841 | 55691841 | Human | | name |
| 156157468 | CV2363679 | single nucleotide variant | NM_001130072.2(EPN1):c.955G>A (p.Asp319Asn) | not specified [RCV004216626] | uncertain significance | 19 | 55691946 | 55691946 | Human | | name |
| 155985164 | CV2368063 | single nucleotide variant | NM_001130072.2(EPN1):c.878C>T (p.Ser293Leu) | not specified [RCV004216417] | uncertain significance | 19 | 55691869 | 55691869 | Human | | name |
| 156346391 | CV2382741 | single nucleotide variant | NM_001130072.2(EPN1):c.905C>T (p.Pro302Leu) | not specified [RCV004224092] | uncertain significance | 19 | 55691896 | 55691896 | Human | | name |
| 329383844 | CV2434892 | single nucleotide variant | NM_001130072.2(EPN1):c.794C>T (p.Thr265Met) | not specified [RCV004250767] | uncertain significance | 19 | 55691785 | 55691785 | Human | | name |
| 329357809 | CV2453797 | single nucleotide variant | NM_001130072.2(EPN1):c.818C>T (p.Thr273Ile) | not specified [RCV004271205] | uncertain significance | 19 | 55691809 | 55691809 | Human | | name |
| 329398680 | CV2471258 | single nucleotide variant | NM_001130072.2(EPN1):c.755A>G (p.Lys252Arg) | not specified [RCV004280285] | uncertain significance | 19 | 55689943 | 55689943 | Human | | name |
| 401737462 | CV2695809 | single nucleotide variant | NM_001130072.2(EPN1):c.844A>G (p.Met282Val) | not specified [RCV004308095] | likely benign | 19 | 55691835 | 55691835 | Human | | name |
| 401778825 | CV2732911 | single nucleotide variant | NM_001130072.2(EPN1):c.476C>T (p.Thr159Met) | not specified [RCV004331090] | uncertain significance | 19 | 55685643 | 55685643 | Human | | name |
| 401929260 | CV2818866 | single nucleotide variant | NM_001130072.2(EPN1):c.608C>T (p.Pro203Leu) | not provided [RCV003407133] | likely benign | 19 | 55689301 | 55689301 | Human | | name |
| 405721784 | CV3249082 | single nucleotide variant | NM_001130072.2(EPN1):c.812C>T (p.Pro271Leu) | not specified [RCV004378087] | uncertain significance | 19 | 55691803 | 55691803 | Human | | name |
| 405721921 | CV3249099 | single nucleotide variant | NM_001130072.2(EPN1):c.406G>A (p.Asp136Asn) | not specified [RCV004378104] | uncertain significance | 19 | 55685573 | 55685573 | Human | | name |
| 405721927 | CV3249100 | single nucleotide variant | NM_001130072.2(EPN1):c.416G>T (p.Arg139Leu) | not specified [RCV004378105] | uncertain significance | 19 | 55685583 | 55685583 | Human | | name |
| 405721933 | CV3249101 | single nucleotide variant | NM_001130072.2(EPN1):c.434C>T (p.Ala145Val) | not specified [RCV004378106] | uncertain significance | 19 | 55685601 | 55685601 | Human | | name |
| 407491958 | CV3431769 | single nucleotide variant | NM_001130072.2(EPN1):c.542G>T (p.Ser181Ile) | not specified [RCV004620638] | uncertain significance | 19 | 55688933 | 55688933 | Human | | name |
| 407491964 | CV3431771 | single nucleotide variant | NM_001130072.2(EPN1):c.842C>T (p.Pro281Leu) | not specified [RCV004620640] | uncertain significance | 19 | 55691833 | 55691833 | Human | | name |
| 597803831 | CV3671192 | single nucleotide variant | NM_001130072.2(EPN1):c.334G>A (p.Val112Met) | not specified [RCV004907388] | uncertain significance | 19 | 55685501 | 55685501 | Human | | name |
| 598169391 | CV3965414 | single nucleotide variant | NM_001130072.2(EPN1):c.529T>C (p.Trp177Arg) | not specified [RCV005330422] | uncertain significance | 19 | 55688920 | 55688920 | Human | | name |
| 598169396 | CV3965415 | single nucleotide variant | NM_001130072.2(EPN1):c.587A>G (p.Lys196Arg) | not specified [RCV005330423] | uncertain significance | 19 | 55688978 | 55688978 | Human | | name |
| 8637046 | CV92272 | single nucleotide variant | NM_001130071.1(EPN1):c.464C>T (p.Ala155Val) | Malignant melanoma [RCV000072370] | not provided | 19 | 55678758 | 55678758 | Human | | name |
| 156323981 | CV2198500 | single nucleotide variant | NM_001130072.2(EPN1):c.1465A>G (p.Ser489Gly) | not specified [RCV004075532] | uncertain significance | 19 | 55694926 | 55694926 | Human | | name |
| 156122481 | CV2227131 | single nucleotide variant | NM_001130072.2(EPN1):c.1076C>T (p.Pro359Leu) | not specified [RCV004091749] | uncertain significance | 19 | 55692695 | 55692695 | Human | | name |
| 155955269 | CV2274438 | single nucleotide variant | NM_001130072.2(EPN1):c.1468C>T (p.Arg490Trp) | not specified [RCV004136806] | uncertain significance | 19 | 55694929 | 55694929 | Human | | name |
| 156167138 | CV2279742 | single nucleotide variant | NM_001130072.2(EPN1):c.1260C>A (p.Ser420Arg) | not specified [RCV004144356] | uncertain significance | 19 | 55693033 | 55693033 | Human | | name |
| 156002786 | CV2288139 | single nucleotide variant | NM_001130072.2(EPN1):c.1700C>T (p.Pro567Leu) | not specified [RCV004149667] | uncertain significance | 19 | 55695325 | 55695325 | Human | | name |
| 155965557 | CV2308519 | single nucleotide variant | NM_001130072.2(EPN1):c.1691C>T (p.Pro564Leu) | not specified [RCV004166799] | uncertain significance | 19 | 55695316 | 55695316 | Human | | name |
| 156181306 | CV2320793 | single nucleotide variant | NM_001130072.2(EPN1):c.1003G>T (p.Gly335Cys) | not specified [RCV004172630] | uncertain significance | 19 | 55691994 | 55691994 | Human | | name |
| 156330833 | CV2339541 | single nucleotide variant | NM_001130072.2(EPN1):c.1040C>T (p.Thr347Met) | not specified [RCV004194207] | uncertain significance | 19 | 55692031 | 55692031 | Human | | name |
| 155979335 | CV2340040 | single nucleotide variant | NM_001130072.2(EPN1):c.1099G>A (p.Asp367Asn) | not specified [RCV004192287] | uncertain significance | 19 | 55692718 | 55692718 | Human | | name |
| 156341118 | CV2348171 | single nucleotide variant | NM_001130072.2(EPN1):c.1196C>T (p.Thr399Met) | not specified [RCV004190815] | uncertain significance | 19 | 55692969 | 55692969 | Human | | name |
| 156142293 | CV2358479 | single nucleotide variant | NM_001130072.2(EPN1):c.1087C>T (p.Pro363Ser) | not specified [RCV004207367] | uncertain significance | 19 | 55692706 | 55692706 | Human | | name |
| 155917005 | CV2366805 | single nucleotide variant | NM_001130072.2(EPN1):c.1367C>A (p.Pro456Gln) | not specified [RCV004210795] | uncertain significance | 19 | 55694828 | 55694828 | Human | | name |
| 401769163 | CV2693462 | single nucleotide variant | NM_001130072.2(EPN1):c.1169G>C (p.Gly390Ala) | not specified [RCV004295409] | uncertain significance | 19 | 55692788 | 55692788 | Human | | name |
| 401771258 | CV2700961 | single nucleotide variant | NM_001130072.2(EPN1):c.1472C>T (p.Pro491Leu) | not specified [RCV004307222] | uncertain significance | 19 | 55694933 | 55694933 | Human | | name |
| 401749826 | CV2711022 | single nucleotide variant | NM_001130072.2(EPN1):c.1235C>A (p.Thr412Lys) | not specified [RCV004310722] | uncertain significance | 19 | 55693008 | 55693008 | Human | | name |
| 401758001 | CV2731612 | single nucleotide variant | NM_001130072.2(EPN1):c.1252G>A (p.Gly418Arg) | not specified [RCV004330955] | uncertain significance | 19 | 55693025 | 55693025 | Human | | name |
| 401892540 | CV2782167 | single nucleotide variant | NM_001130072.2(EPN1):c.1313C>T (p.Ala438Val) | not specified [RCV004359147] | uncertain significance | 19 | 55694774 | 55694774 | Human | | name |
| 405721798 | CV3249084 | single nucleotide variant | NM_001130072.2(EPN1):c.1204G>A (p.Asp402Asn) | not specified [RCV004378089] | uncertain significance | 19 | 55692977 | 55692977 | Human | | name |
| 405721809 | CV3249085 | single nucleotide variant | NM_001130072.2(EPN1):c.1221T>G (p.Phe407Leu) | not specified [RCV004378090] | uncertain significance | 19 | 55692994 | 55692994 | Human | | name |
| 405721815 | CV3249086 | single nucleotide variant | NM_001130072.2(EPN1):c.1226G>A (p.Arg409Gln) | not specified [RCV004378091] | uncertain significance | 19 | 55692999 | 55692999 | Human | | name |
| 405721827 | CV3249088 | single nucleotide variant | NM_001130072.2(EPN1):c.1307C>T (p.Pro436Leu) | not specified [RCV004378093] | uncertain significance | 19 | 55694768 | 55694768 | Human | | name |
| 405721835 | CV3249089 | single nucleotide variant | NM_001130072.2(EPN1):c.1397C>A (p.Pro466His) | not specified [RCV004378094] | uncertain significance | 19 | 55694858 | 55694858 | Human | | name |
| 405721845 | CV3249090 | single nucleotide variant | NM_001130072.2(EPN1):c.1402C>T (p.Arg468Trp) | not specified [RCV004378095] | uncertain significance | 19 | 55694863 | 55694863 | Human | | name |
| 405721853 | CV3249091 | single nucleotide variant | NM_001130072.2(EPN1):c.1600C>T (p.Arg534Cys) | not specified [RCV004378096] | uncertain significance | 19 | 55695225 | 55695225 | Human | | name |
| 405721862 | CV3249092 | single nucleotide variant | NM_001130072.2(EPN1):c.1631C>T (p.Ala544Val) | not specified [RCV004378097] | uncertain significance | 19 | 55695256 | 55695256 | Human | | name |
| 405721869 | CV3249093 | single nucleotide variant | NM_001130072.2(EPN1):c.1660G>A (p.Gly554Arg) | not specified [RCV004378098] | uncertain significance | 19 | 55695285 | 55695285 | Human | | name |
| 407491954 | CV3431768 | single nucleotide variant | NM_001130072.2(EPN1):c.1576G>T (p.Ala526Ser) | not specified [RCV004620637] | uncertain significance | 19 | 55695201 | 55695201 | Human | | name |
| 407491968 | CV3431772 | single nucleotide variant | NM_001130072.2(EPN1):c.1099G>T (p.Asp367Tyr) | not specified [RCV004620641] | uncertain significance | 19 | 55692718 | 55692718 | Human | | name |
| 597803823 | CV3671184 | single nucleotide variant | NM_001130072.2(EPN1):c.1141G>A (p.Gly381Arg) | not specified [RCV004907384] | uncertain significance | 19 | 55692760 | 55692760 | Human | | name |
| 597748024 | CV3671187 | single nucleotide variant | NM_001130072.2(EPN1):c.1601G>A (p.Arg534His) | not specified [RCV004923021] | uncertain significance | 19 | 55695226 | 55695226 | Human | | name |
| 597803829 | CV3671189 | single nucleotide variant | NM_001130072.2(EPN1):c.1167T>G (p.Asn389Lys) | not specified [RCV004907387] | uncertain significance | 19 | 55692786 | 55692786 | Human | | name |
| 597748037 | CV3671190 | single nucleotide variant | NM_001130072.2(EPN1):c.1477C>T (p.Pro493Ser) | not specified [RCV004923023] | uncertain significance | 19 | 55694938 | 55694938 | Human | | name |
| 598169358 | CV3965408 | single nucleotide variant | NM_001130072.2(EPN1):c.1183G>A (p.Gly395Arg) | not specified [RCV005330416] | uncertain significance | 19 | 55692956 | 55692956 | Human | | name |
| 598169386 | CV3965413 | single nucleotide variant | NM_001130072.2(EPN1):c.1244C>T (p.Pro415Leu) | not specified [RCV005330421] | uncertain significance | 19 | 55693017 | 55693017 | Human | | name |