| 152042662 | CV1670030 | single nucleotide variant | NM_005125.2(CCS):c.567+1G>C | not provided [RCV002224932] | uncertain significance | 11 | 66605417 | 66605417 | Human | | name |
| 405293551 | CV3214229 | single nucleotide variant | NM_005125.2(CCS):c.279G>T (p.Leu93=) | CCS-related disorder [RCV003931933] | likely benign | 11 | 66599487 | 66599487 | Human | | name , trait , alternate_id |
| 405275494 | CV3196229 | single nucleotide variant | NM_005125.2(CCS):c.804G>A (p.Ala268=) | CCS-related disorder [RCV003974101] | benign | 11 | 66605834 | 66605834 | Human | | name , trait , alternate_id |
| 405757199 | CV3303326 | single nucleotide variant | NM_005125.2(CCS):c.89G>A (p.Arg30His) | not specified [RCV004433012] | uncertain significance | 11 | 66593691 | 66593691 | Human | | name |
| 156359785 | CV2257946 | single nucleotide variant | NM_005125.2(CCS):c.211C>T (p.Arg71Trp) | not specified [RCV004129760] | uncertain significance | 11 | 66599214 | 66599214 | Human | | name |
| 405757168 | CV3303321 | single nucleotide variant | NM_005125.2(CCS):c.206C>T (p.Thr69Met) | not specified [RCV004433007] | uncertain significance | 11 | 66599209 | 66599209 | Human | | name |
| 407497529 | CV3428738 | single nucleotide variant | NM_005125.2(CCS):c.107T>G (p.Val36Gly) | not specified [RCV004606401] | uncertain significance | 11 | 66593709 | 66593709 | Human | | name |
| 156398726 | CV2194751 | single nucleotide variant | NM_005125.2(CCS):c.778G>A (p.Ala260Thr) | not specified [RCV004075300] | uncertain significance | 11 | 66605808 | 66605808 | Human | | name |
| 156029220 | CV2205952 | single nucleotide variant | NM_005125.2(CCS):c.535G>A (p.Ala179Thr) | not specified [RCV004078379] | uncertain significance | 11 | 66605384 | 66605384 | Human | | name |
| 155926052 | CV2287812 | single nucleotide variant | NM_005125.2(CCS):c.349G>A (p.Gly117Arg) | not specified [RCV004143256] | uncertain significance | 11 | 66599557 | 66599557 | Human | | name |
| 156145551 | CV2358747 | single nucleotide variant | NM_005125.2(CCS):c.788G>C (p.Gly263Ala) | not specified [RCV004209658] | uncertain significance | 11 | 66605818 | 66605818 | Human | | name |
| 155930357 | CV2361125 | single nucleotide variant | NM_005125.2(CCS):c.307G>C (p.Val103Leu) | not specified [RCV004216315] | uncertain significance | 11 | 66599515 | 66599515 | Human | | name |
| 156147800 | CV2394441 | single nucleotide variant | NM_005125.2(CCS):c.775A>G (p.Ile259Val) | not specified [RCV004240808] | uncertain significance | 11 | 66605805 | 66605805 | Human | | name |
| 155931835 | CV2399911 | single nucleotide variant | NM_005125.2(CCS):c.449C>T (p.Pro150Leu) | not specified [RCV004246852] | uncertain significance | 11 | 66600509 | 66600509 | Human | | name |
| 329375459 | CV2440935 | single nucleotide variant | NM_005125.2(CCS):c.410T>C (p.Leu137Pro) | not specified [RCV004261324] | uncertain significance | 11 | 66599618 | 66599618 | Human | | name |
| 401766132 | CV2718025 | single nucleotide variant | NM_005125.2(CCS):c.626G>A (p.Arg209Gln) | not specified [RCV004315753] | uncertain significance | 11 | 66605547 | 66605547 | Human | | name |
| 401762135 | CV2722654 | single nucleotide variant | NM_005125.2(CCS):c.683G>C (p.Gly228Ala) | not specified [RCV004325104] | uncertain significance | 11 | 66605713 | 66605713 | Human | | name |
| 401876533 | CV2782953 | single nucleotide variant | NM_005125.2(CCS):c.716A>G (p.Asn239Ser) | not specified [RCV004361748] | uncertain significance | 11 | 66605746 | 66605746 | Human | | name |
| 401895015 | CV2792682 | single nucleotide variant | NM_005125.2(CCS):c.642A>C (p.Leu214Phe) | not specified [RCV004365461] | uncertain significance | 11 | 66605563 | 66605563 | Human | | name |
| 401882211 | CV2793407 | single nucleotide variant | NM_005125.2(CCS):c.778G>T (p.Ala260Ser) | not specified [RCV004362503] | uncertain significance | 11 | 66605808 | 66605808 | Human | | name |
| 405757175 | CV3303322 | single nucleotide variant | NM_005125.2(CCS):c.488G>T (p.Arg163Leu) | not specified [RCV004433008] | uncertain significance | 11 | 66600548 | 66600548 | Human | | name |
| 405757181 | CV3303323 | single nucleotide variant | NM_005125.2(CCS):c.557A>G (p.Glu186Gly) | not specified [RCV004433009] | uncertain significance | 11 | 66605406 | 66605406 | Human | | name |
| 405757194 | CV3303325 | single nucleotide variant | NM_005125.2(CCS):c.700G>A (p.Ala234Thr) | not specified [RCV004433011] | uncertain significance | 11 | 66605730 | 66605730 | Human | | name |
| 597777117 | CV3638387 | single nucleotide variant | NM_005125.2(CCS):c.517G>A (p.Ala173Thr) | not specified [RCV004898675] | uncertain significance | 11 | 66605366 | 66605366 | Human | | name |
| 597762413 | CV3638388 | single nucleotide variant | NM_005125.2(CCS):c.574G>A (p.Asp192Asn) | not specified [RCV004895132] | uncertain significance | 11 | 66605495 | 66605495 | Human | | name |
| 597777121 | CV3638389 | single nucleotide variant | NM_005125.2(CCS):c.636T>A (p.His212Gln) | not specified [RCV004898676] | uncertain significance | 11 | 66605557 | 66605557 | Human | | name |
| 598205943 | CV3939925 | single nucleotide variant | NM_005125.2(CCS):c.548T>C (p.Met183Thr) | not specified [RCV005315023] | uncertain significance | 11 | 66605397 | 66605397 | Human | | name |
| 598205951 | CV3939926 | single nucleotide variant | NM_005125.2(CCS):c.743G>C (p.Gly248Ala) | not specified [RCV005315024] | uncertain significance | 11 | 66605773 | 66605773 | Human | | name |
| 598205957 | CV3939927 | single nucleotide variant | NM_005125.2(CCS):c.791G>A (p.Arg264Gln) | not specified [RCV005315025] | uncertain significance | 11 | 66605821 | 66605821 | Human | | name |
| 8569901 | CV45726 | single nucleotide variant | NM_005125.2(CCS):c.487C>T (p.Arg163Trp) | Neurodegeneration [RCV000030700] | uncertain significance | 11 | 66600547 | 66600547 | Human | 2 | name |
| 8580146 | CV114552 | single nucleotide variant | NM_001145065.1(CCSER1):c.-42+24499G>T | Lung cancer [RCV000095075] | uncertain significance | 4 | 90152330 | 90152330 | Human | | name |
| 8580148 | CV114554 | single nucleotide variant | NM_001145065.1(CCSER1):c.2172+5638G>A | Lung cancer [RCV000095077] | uncertain significance | 4 | 90929085 | 90929085 | Human | | name |
| 8580147 | CV114553 | single nucleotide variant | NM_001145065.1(CCSER1):c.2094+33501A>T | Lung cancer [RCV000095076] | uncertain significance | 4 | 90849346 | 90849346 | Human | | name |
| 8652365 | CV128940 | single nucleotide variant | NM_001284240.1(CCSER2):c.2325+16278T>G | Lung cancer [RCV000109427] | uncertain significance | 10 | 84493942 | 84493942 | Human | | name |
| 156288179 | CV2229734 | single nucleotide variant | NM_001284240.2(CCSER2):c.2326-13558C>T | not specified [RCV004103534] | uncertain significance | 10 | 84499891 | 84499891 | Human | | name |
| 156204926 | CV2385127 | single nucleotide variant | NM_001284240.2(CCSER2):c.2326-13543G>T | not specified [RCV004228386] | uncertain significance | 10 | 84499906 | 84499906 | Human | | name |
| 401888507 | CV2785036 | single nucleotide variant | NM_001284240.2(CCSER2):c.2326-13498G>A | not specified [RCV004355054] | uncertain significance | 10 | 84499951 | 84499951 | Human | | name |
| 401880878 | CV2789413 | single nucleotide variant | NM_001284240.2(CCSER2):c.2326-13552T>C | not specified [RCV004360053] | uncertain significance | 10 | 84499897 | 84499897 | Human | | name |
| 407497556 | CV3428743 | single nucleotide variant | NM_001284240.2(CCSER2):c.2326-13535T>G | not specified [RCV004606405] | uncertain significance | 10 | 84499914 | 84499914 | Human | | name |
| 8631324 | CV86485 | single nucleotide variant | NM_001145065.1(CCSER1):c.2094+23163G>A | Malignant melanoma [RCV000066576] | not provided | 4 | 90839008 | 90839008 | Human | | name |
| 8580149 | CV114555 | single nucleotide variant | NM_001145065.1(CCSER1):c.2217+100371G>T | Lung cancer [RCV000095078] | uncertain significance | 4 | 91186365 | 91186365 | Human | | name |
| 156088478 | CV2241403 | single nucleotide variant | NM_145257.5(CCSAP):c.41G>A (p.Arg14His) | not specified [RCV004102532] | uncertain significance | 1 | 229342425 | 229342425 | Human | | name |
| 597777123 | CV3638391 | single nucleotide variant | NM_145257.5(CCSAP):c.74C>T (p.Pro25Leu) | not specified [RCV004898677] | uncertain significance | 1 | 229342392 | 229342392 | Human | | name |
| 156142305 | CV2383767 | single nucleotide variant | NM_145257.5(CCSAP):c.212G>A (p.Gly71Asp) | not specified [RCV004231645] | uncertain significance | 1 | 229342254 | 229342254 | Human | | name |
| 156192533 | CV2388742 | single nucleotide variant | NM_145257.5(CCSAP):c.196T>G (p.Ser66Ala) | not specified [RCV004239607] | uncertain significance | 1 | 229342270 | 229342270 | Human | | name |
| 329393584 | CV2453449 | single nucleotide variant | NM_145257.5(CCSAP):c.109C>T (p.Arg37Cys) | not specified [RCV004267053] | uncertain significance | 1 | 229342357 | 229342357 | Human | | name |
| 597762405 | CV3638393 | single nucleotide variant | NM_145257.5(CCSAP):c.175G>C (p.Glu59Gln) | not specified [RCV004895134] | uncertain significance | 1 | 229342291 | 229342291 | Human | | name |
| 598228545 | CV3939930 | single nucleotide variant | NM_145257.5(CCSAP):c.151G>T (p.Asp51Tyr) | not specified [RCV005319095] | uncertain significance | 1 | 229342315 | 229342315 | Human | | name |
| 155987866 | CV2275717 | single nucleotide variant | NM_145257.5(CCSAP):c.429C>A (p.Asp143Glu) | not specified [RCV004137327] | uncertain significance | 1 | 229326945 | 229326945 | Human | | name |
| 156101779 | CV2291404 | single nucleotide variant | NM_145257.5(CCSAP):c.325G>C (p.Gly109Arg) | not specified [RCV004155743] | uncertain significance | 1 | 229342141 | 229342141 | Human | | name |
| 155983856 | CV2344354 | single nucleotide variant | NM_145257.5(CCSAP):c.679G>A (p.Glu227Lys) | not specified [RCV004195110] | uncertain significance | 1 | 229325369 | 229325369 | Human | | name |
| 156172824 | CV2355115 | single nucleotide variant | NM_145257.5(CCSAP):c.421G>C (p.Glu141Gln) | not specified [RCV004198506] | uncertain significance | 1 | 229326953 | 229326953 | Human | | name |
| 401759522 | CV2712524 | single nucleotide variant | NM_145257.5(CCSAP):c.302C>T (p.Pro101Leu) | not specified [RCV004307864] | uncertain significance | 1 | 229342164 | 229342164 | Human | | name |
| 405757217 | CV3303328 | single nucleotide variant | NM_145257.5(CCSAP):c.337G>A (p.Ala113Thr) | not specified [RCV004433014] | uncertain significance | 1 | 229342129 | 229342129 | Human | | name |
| 405757223 | CV3303329 | single nucleotide variant | NM_145257.5(CCSAP):c.389A>G (p.Glu130Gly) | not specified [RCV004433015] | uncertain significance | 1 | 229326985 | 229326985 | Human | | name |
| 405757228 | CV3303330 | single nucleotide variant | NM_145257.5(CCSAP):c.400G>A (p.Glu134Lys) | not specified [RCV004433016] | uncertain significance | 1 | 229326974 | 229326974 | Human | | name |
| 405757320 | CV3303343 | single nucleotide variant | NM_001145065.2(CCSER1):c.7G>C (p.Asp3His) | not specified [RCV004433029] | uncertain significance | 4 | 90308291 | 90308291 | Human | | name |
| 597762410 | CV3638390 | single nucleotide variant | NM_145257.5(CCSAP):c.530T>C (p.Ile177Thr) | not specified [RCV004895133] | uncertain significance | 1 | 229326844 | 229326844 | Human | | name |
| 597777127 | CV3638392 | single nucleotide variant | NM_145257.5(CCSAP):c.455G>A (p.Arg152Gln) | not specified [RCV004898678] | uncertain significance | 1 | 229326919 | 229326919 | Human | | name |
| 597777131 | CV3638394 | single nucleotide variant | NM_145257.5(CCSAP):c.622G>A (p.Ala208Thr) | not specified [RCV004898679] | uncertain significance | 1 | 229326752 | 229326752 | Human | | name |
| 597762237 | CV3638395 | single nucleotide variant | NM_145257.5(CCSAP):c.734A>G (p.Lys245Arg) | not specified [RCV004895135] | uncertain significance | 1 | 229325314 | 229325314 | Human | | name |
| 598228535 | CV3939928 | single nucleotide variant | NM_145257.5(CCSAP):c.583G>A (p.Asp195Asn) | not specified [RCV005319094] | uncertain significance | 1 | 229326791 | 229326791 | Human | | name |
| 598205961 | CV3939929 | single nucleotide variant | NM_145257.5(CCSAP):c.670A>G (p.Arg224Gly) | not specified [RCV005315026] | uncertain significance | 1 | 229325378 | 229325378 | Human | | name |
| 156293654 | CV2233565 | single nucleotide variant | NM_001284240.2(CCSER2):c.26C>G (p.Thr9Arg) | not specified [RCV004100040] | uncertain significance | 10 | 84371078 | 84371078 | Human | | name |
| 156277970 | CV2286686 | single nucleotide variant | NM_001145065.2(CCSER1):c.40C>T (p.Arg14Trp) | not specified [RCV004142518] | uncertain significance | 4 | 90308324 | 90308324 | Human | | name |
| 405757415 | CV3303358 | single nucleotide variant | NM_001284240.2(CCSER2):c.65C>T (p.Ser22Phe) | not specified [RCV004433044] | uncertain significance | 10 | 84371117 | 84371117 | Human | | name |
| 597777173 | CV3638409 | single nucleotide variant | NM_001145065.2(CCSER1):c.92C>A (p.Ser31Tyr) | not specified [RCV004898690] | uncertain significance | 4 | 90308376 | 90308376 | Human | | name |
| 597762269 | CV3638412 | single nucleotide variant | NM_001284240.2(CCSER2):c.88A>G (p.Met30Val) | not specified [RCV004895141] | uncertain significance | 10 | 84371140 | 84371140 | Human | | name |
| 8626860 | CV82004 | single nucleotide variant | NM_018999.3(CCSER2):c.1017T>A (p.Asn339Lys) | Malignant melanoma [RCV000062083] | not provided | 10 | 84372069 | 84372069 | Human | | name |
| 155988728 | CV2251242 | single nucleotide variant | NM_001284240.2(CCSER2):c.245C>T (p.Pro82Leu) | not specified [RCV004115464] | uncertain significance | 10 | 84371297 | 84371297 | Human | | name |
| 329368165 | CV2424206 | single nucleotide variant | NM_001284240.2(CCSER2):c.151A>G (p.Ile51Val) | not specified [RCV004250333] | uncertain significance | 10 | 84371203 | 84371203 | Human | | name |
| 329360057 | CV2458484 | single nucleotide variant | NM_001145065.2(CCSER1):c.243G>C (p.Glu81Asp) | not specified [RCV004268185] | uncertain significance | 4 | 90308527 | 90308527 | Human | | name |
| 401728631 | CV2672995 | single nucleotide variant | NM_001284240.2(CCSER2):c.2400A>G (p.Gln800=) | not specified [RCV004283994] | likely benign | 10 | 84513523 | 84513523 | Human | | name |
| 401928341 | CV2820034 | single nucleotide variant | NM_001145065.2(CCSER1):c.1009T>C (p.Leu337=) | not provided [RCV003439416] | likely benign | 4 | 90309293 | 90309293 | Human | | name |
| 405757242 | CV3303332 | single nucleotide variant | NM_001145065.2(CCSER1):c.113C>T (p.Thr38Ile) | not specified [RCV004433018] | uncertain significance | 4 | 90308397 | 90308397 | Human | | name |
| 405757347 | CV3303347 | single nucleotide variant | NM_001284240.2(CCSER2):c.143A>G (p.Lys48Arg) | not specified [RCV004433033] | uncertain significance | 10 | 84371195 | 84371195 | Human | | name |
| 407497569 | CV3428746 | single nucleotide variant | NM_001284240.2(CCSER2):c.127A>G (p.Lys43Glu) | not specified [RCV004606408] | uncertain significance | 10 | 84371179 | 84371179 | Human | | name |
| 597777139 | CV3638397 | single nucleotide variant | NM_001145065.2(CCSER1):c.268T>G (p.Ser90Ala) | not specified [RCV004898681] | uncertain significance | 4 | 90308552 | 90308552 | Human | | name |
| 597777143 | CV3638398 | single nucleotide variant | NM_001145065.2(CCSER1):c.202A>G (p.Ile68Val) | not specified [RCV004898682] | uncertain significance | 4 | 90308486 | 90308486 | Human | | name |
| 597777177 | CV3638413 | single nucleotide variant | NM_001284240.2(CCSER2):c.145A>C (p.Ser49Arg) | not specified [RCV004898691] | uncertain significance | 10 | 84371197 | 84371197 | Human | | name |
| 597762273 | CV3638414 | single nucleotide variant | NM_001284240.2(CCSER2):c.249C>G (p.Asn83Lys) | not specified [RCV004895142] | uncertain significance | 10 | 84371301 | 84371301 | Human | | name |
| 598205973 | CV3939932 | single nucleotide variant | NM_001145065.2(CCSER1):c.154A>G (p.Ser52Gly) | not specified [RCV005315028] | uncertain significance | 4 | 90308438 | 90308438 | Human | | name |
| 598206032 | CV3939943 | single nucleotide variant | NM_001145065.2(CCSER1):c.263G>A (p.Ser88Asn) | not specified [RCV005315037] | uncertain significance | 4 | 90308547 | 90308547 | Human | | name |
| 598206060 | CV3939947 | single nucleotide variant | NM_001284240.2(CCSER2):c.174T>G (p.Cys58Trp) | not specified [RCV005315041] | uncertain significance | 10 | 84371226 | 84371226 | Human | | name |
| 598206071 | CV3939949 | single nucleotide variant | NM_001284240.2(CCSER2):c.271A>G (p.Lys91Glu) | not specified [RCV005315043] | uncertain significance | 10 | 84371323 | 84371323 | Human | | name |
| 8631322 | CV86483 | single nucleotide variant | NM_001145065.1(CCSER1):c.1749G>A (p.Lys583=) | Malignant melanoma [RCV000066574] | not provided | 4 | 90628049 | 90628049 | Human | | name |
| 156397988 | CV2194078 | single nucleotide variant | NM_001284240.2(CCSER2):c.703C>G (p.Pro235Ala) | not specified [RCV004076838] | uncertain significance | 10 | 84371755 | 84371755 | Human | | name |
| 155918009 | CV2195637 | single nucleotide variant | NM_001284240.2(CCSER2):c.500A>G (p.Asn167Ser) | not specified [RCV004076004] | likely benign | 10 | 84371552 | 84371552 | Human | | name |
| 156247493 | CV2202891 | single nucleotide variant | NM_001145065.2(CCSER1):c.680C>T (p.Ser227Leu) | not specified [RCV004069166] | uncertain significance | 4 | 90308964 | 90308964 | Human | | name |
| 156241750 | CV2213993 | single nucleotide variant | NM_001284240.2(CCSER2):c.946A>G (p.Arg316Gly) | not specified [RCV004083710] | uncertain significance | 10 | 84371998 | 84371998 | Human | | name |
| 156091903 | CV2216693 | single nucleotide variant | NM_001145065.2(CCSER1):c.862G>A (p.Gly288Ser) | not specified [RCV004083146] | uncertain significance | 4 | 90309146 | 90309146 | Human | | name |
| 156115438 | CV2221441 | single nucleotide variant | NM_001284240.2(CCSER2):c.710C>G (p.Ser237Cys) | not specified [RCV004096730] | uncertain significance | 10 | 84371762 | 84371762 | Human | | name |
| 156224908 | CV2229930 | single nucleotide variant | NM_001284240.2(CCSER2):c.773A>G (p.Gln258Arg) | not specified [RCV004105471] | uncertain significance | 10 | 84371825 | 84371825 | Human | | name |
| 156384532 | CV2231111 | single nucleotide variant | NM_001145065.2(CCSER1):c.974G>A (p.Arg325Lys) | not specified [RCV004094328] | uncertain significance | 4 | 90309258 | 90309258 | Human | | name |
| 156155833 | CV2238297 | single nucleotide variant | NM_001284240.2(CCSER2):c.385A>G (p.Thr129Ala) | not specified [RCV004113375] | uncertain significance | 10 | 84371437 | 84371437 | Human | | name |
| 156392834 | CV2385401 | single nucleotide variant | NM_001145065.2(CCSER1):c.757A>G (p.Thr253Ala) | not specified [RCV004231048] | uncertain significance | 4 | 90309041 | 90309041 | Human | | name |
| 156053299 | CV2385517 | single nucleotide variant | NM_001145065.2(CCSER1):c.377A>C (p.Lys126Thr) | not specified [RCV004233161] | uncertain significance | 4 | 90308661 | 90308661 | Human | | name |
| 329375890 | CV2468893 | single nucleotide variant | NM_001145065.2(CCSER1):c.713C>T (p.Ala238Val) | not specified [RCV004280196] | uncertain significance | 4 | 90308997 | 90308997 | Human | | name |
| 401732630 | CV2675143 | single nucleotide variant | NM_001284240.2(CCSER2):c.716C>T (p.Thr239Ile) | not specified [RCV004289922] | uncertain significance | 10 | 84371768 | 84371768 | Human | | name |
| 401886227 | CV2771111 | single nucleotide variant | NM_001145065.2(CCSER1):c.932C>T (p.Thr311Met) | not specified [RCV004346115] | likely benign | 4 | 90309216 | 90309216 | Human | | name |
| 401890735 | CV2775609 | single nucleotide variant | NM_001145065.2(CCSER1):c.938C>T (p.Thr313Ile) | not specified [RCV004350764] | uncertain significance | 4 | 90309222 | 90309222 | Human | | name |
| 401898391 | CV2787849 | single nucleotide variant | NM_001284240.2(CCSER2):c.841A>G (p.Asn281Asp) | not specified [RCV004358530] | uncertain significance | 10 | 84371893 | 84371893 | Human | | name |
| 405757306 | CV3303341 | single nucleotide variant | NM_001145065.2(CCSER1):c.361A>G (p.Ser121Gly) | not specified [RCV004433027] | uncertain significance | 4 | 90308645 | 90308645 | Human | | name |
| 405757313 | CV3303342 | single nucleotide variant | NM_001145065.2(CCSER1):c.710G>A (p.Arg237Gln) | not specified [RCV004433028] | uncertain significance | 4 | 90308994 | 90308994 | Human | | name |
| 405757325 | CV3303344 | single nucleotide variant | NM_001145065.2(CCSER1):c.932C>G (p.Thr311Arg) | not specified [RCV004433030] | uncertain significance | 4 | 90309216 | 90309216 | Human | | name |
| 405757392 | CV3303354 | single nucleotide variant | NM_001284240.2(CCSER2):c.374C>G (p.Ala125Gly) | not specified [RCV004433040] | uncertain significance | 10 | 84371426 | 84371426 | Human | | name |
| 405757398 | CV3303355 | single nucleotide variant | NM_001284240.2(CCSER2):c.379C>T (p.Pro127Ser) | not specified [RCV004433041] | uncertain significance | 10 | 84371431 | 84371431 | Human | | name |
| 405757402 | CV3303356 | single nucleotide variant | NM_001284240.2(CCSER2):c.568G>A (p.Ala190Thr) | not specified [RCV004433042] | uncertain significance | 10 | 84371620 | 84371620 | Human | | name |
| 405757407 | CV3303357 | single nucleotide variant | NM_001284240.2(CCSER2):c.620C>A (p.Pro207Gln) | not specified [RCV004433043] | uncertain significance | 10 | 84371672 | 84371672 | Human | | name |
| 405757425 | CV3303359 | single nucleotide variant | NM_001284240.2(CCSER2):c.842A>G (p.Asn281Ser) | not specified [RCV004433045] | uncertain significance | 10 | 84371894 | 84371894 | Human | | name |
| 405757431 | CV3303360 | single nucleotide variant | NM_001284240.2(CCSER2):c.934A>G (p.Thr312Ala) | not specified [RCV004433046] | uncertain significance | 10 | 84371986 | 84371986 | Human | | name |
| 407497581 | CV3424805 | single nucleotide variant | NM_001284240.2(CCSER2):c.610G>A (p.Ala204Thr) | not specified [RCV004606411] | uncertain significance | 10 | 84371662 | 84371662 | Human | | name |
| 407454621 | CV3428740 | single nucleotide variant | NM_001145065.2(CCSER1):c.322C>T (p.His108Tyr) | not specified [RCV004609921] | uncertain significance | 4 | 90308606 | 90308606 | Human | | name |
| 407497573 | CV3428747 | single nucleotide variant | NM_001284240.2(CCSER2):c.679T>A (p.Ser227Thr) | not specified [RCV004606409] | uncertain significance | 10 | 84371731 | 84371731 | Human | | name |
| 597762243 | CV3638401 | single nucleotide variant | NM_001145065.2(CCSER1):c.458G>A (p.Ser153Asn) | not specified [RCV004895136] | uncertain significance | 4 | 90308742 | 90308742 | Human | | name |
| 597777165 | CV3638407 | single nucleotide variant | NM_001145065.2(CCSER1):c.511C>T (p.Arg171Cys) | not specified [RCV004898688] | uncertain significance | 4 | 90308795 | 90308795 | Human | | name |
| 597777169 | CV3638408 | single nucleotide variant | NM_001145065.2(CCSER1):c.371A>G (p.Asn124Ser) | not specified [RCV004898689] | uncertain significance | 4 | 90308655 | 90308655 | Human | | name |
| 597762258 | CV3638410 | single nucleotide variant | NM_001145065.2(CCSER1):c.439G>A (p.Val147Ile) | not specified [RCV004895139] | uncertain significance | 4 | 90308723 | 90308723 | Human | | name |
| 597777183 | CV3638418 | single nucleotide variant | NM_001284240.2(CCSER2):c.677A>T (p.His226Leu) | not specified [RCV004898693] | uncertain significance | 10 | 84371729 | 84371729 | Human | | name |
| 597777187 | CV3638419 | single nucleotide variant | NM_001284240.2(CCSER2):c.307G>C (p.Gly103Arg) | not specified [RCV004898694] | uncertain significance | 10 | 84371359 | 84371359 | Human | | name |
| 598205999 | CV3939936 | single nucleotide variant | NM_001145065.2(CCSER1):c.551C>G (p.Ser184Cys) | not specified [RCV005315032] | uncertain significance | 4 | 90308835 | 90308835 | Human | | name |
| 598206012 | CV3939939 | single nucleotide variant | NM_001145065.2(CCSER1):c.512G>A (p.Arg171His) | not specified [RCV005315034] | uncertain significance | 4 | 90308796 | 90308796 | Human | | name |
| 598206019 | CV3939940 | single nucleotide variant | NM_001145065.2(CCSER1):c.946T>G (p.Cys316Gly) | not specified [RCV005315035] | uncertain significance | 4 | 90309230 | 90309230 | Human | | name |
| 598206046 | CV3939945 | single nucleotide variant | NM_001284240.2(CCSER2):c.862T>C (p.Tyr288His) | not specified [RCV005315039] | uncertain significance | 10 | 84371914 | 84371914 | Human | | name |
| 598206054 | CV3939946 | single nucleotide variant | NM_001284240.2(CCSER2):c.838C>G (p.Leu280Val) | not specified [RCV005315040] | uncertain significance | 10 | 84371890 | 84371890 | Human | | name |
| 598206089 | CV3939952 | single nucleotide variant | NM_001284240.2(CCSER2):c.961T>A (p.Ser321Thr) | not specified [RCV005315046] | uncertain significance | 10 | 84372013 | 84372013 | Human | | name |
| 156066582 | CV2193357 | single nucleotide variant | NM_001284240.2(CCSER2):c.1406T>C (p.Ile469Thr) | not specified [RCV004072861] | uncertain significance | 10 | 84372458 | 84372458 | Human | | name |
| 156068092 | CV2193683 | single nucleotide variant | NM_001284240.2(CCSER2):c.1274A>G (p.Asn425Ser) | not specified [RCV004074279] | uncertain significance | 10 | 84372326 | 84372326 | Human | | name |
| 156073114 | CV2201384 | single nucleotide variant | NM_001145065.2(CCSER1):c.2510A>C (p.Glu837Ala) | not specified [RCV004077504] | uncertain significance | 4 | 91598864 | 91598864 | Human | | name |
| 156399190 | CV2204969 | single nucleotide variant | NM_001284240.2(CCSER2):c.1727G>A (p.Arg576His) | not specified [RCV004077591] | uncertain significance | 10 | 84425752 | 84425752 | Human | | name |
| 156189613 | CV2205953 | single nucleotide variant | NM_001284240.2(CCSER2):c.2033A>G (p.Gln678Arg) | not specified [RCV004078380] | uncertain significance | 10 | 84438676 | 84438676 | Human | | name |
| 155942078 | CV2229434 | single nucleotide variant | NM_001284240.2(CCSER2):c.1016A>C (p.Asn339Thr) | not specified [RCV004101207] | uncertain significance | 10 | 84372068 | 84372068 | Human | | name |
| 156283993 | CV2231110 | single nucleotide variant | NM_001145065.2(CCSER1):c.2464C>T (p.Arg822Trp) | not specified [RCV004094327] | uncertain significance | 4 | 91598818 | 91598818 | Human | | name |
| 155920486 | CV2240370 | single nucleotide variant | NM_001145065.2(CCSER1):c.2664C>A (p.His888Gln) | not specified [RCV004117274] | uncertain significance | 4 | 91599018 | 91599018 | Human | | name |
| 156077672 | CV2248134 | single nucleotide variant | NM_001145065.2(CCSER1):c.2594A>G (p.Gln865Arg) | not specified [RCV004117538] | uncertain significance | 4 | 91598948 | 91598948 | Human | | name |
| 156080111 | CV2259314 | single nucleotide variant | NM_001145065.2(CCSER1):c.1568T>G (p.Leu523Arg) | not specified [RCV004122326] | uncertain significance | 4 | 90400094 | 90400094 | Human | | name |
| 155965151 | CV2261746 | single nucleotide variant | NM_001284240.2(CCSER2):c.1589A>G (p.Tyr530Cys) | not specified [RCV004126039] | uncertain significance | 10 | 84373790 | 84373790 | Human | | name |
| 156178131 | CV2287906 | single nucleotide variant | NM_001145065.2(CCSER1):c.2630G>T (p.Ser877Ile) | not specified [RCV004147690] | uncertain significance | 4 | 91598984 | 91598984 | Human | | name |
| 156148996 | CV2292875 | single nucleotide variant | NM_001145065.2(CCSER1):c.1474A>G (p.Arg492Gly) | not specified [RCV004148382] | uncertain significance | 4 | 90313012 | 90313012 | Human | | name |
| 156349543 | CV2305642 | single nucleotide variant | NM_001284240.2(CCSER2):c.1677T>A (p.Asp559Glu) | not specified [RCV004165646] | uncertain significance | 10 | 84417833 | 84417833 | Human | | name |
| 156063191 | CV2316741 | single nucleotide variant | NM_001145065.2(CCSER1):c.1649T>C (p.Val550Ala) | not specified [RCV004171963] | uncertain significance | 4 | 90468279 | 90468279 | Human | | name |
| 156155640 | CV2328802 | single nucleotide variant | NM_001284240.2(CCSER2):c.1298A>G (p.Glu433Gly) | not specified [RCV004178026] | uncertain significance | 10 | 84372350 | 84372350 | Human | | name |
| 156186996 | CV2332685 | single nucleotide variant | NM_001145065.2(CCSER1):c.2467G>A (p.Ala823Thr) | not specified [RCV004189362] | uncertain significance | 4 | 91598821 | 91598821 | Human | | name |
| 156244709 | CV2347180 | single nucleotide variant | NM_001145065.2(CCSER1):c.1837A>C (p.Asn613His) | not specified [RCV004204653] | uncertain significance | 4 | 90628137 | 90628137 | Human | | name |
| 156402597 | CV2361758 | single nucleotide variant | NM_001145065.2(CCSER1):c.1319C>T (p.Ala440Val) | not specified [RCV004223233] | uncertain significance | 4 | 90309603 | 90309603 | Human | | name |
| 155932545 | CV2364415 | single nucleotide variant | NM_001145065.2(CCSER1):c.1910A>G (p.Lys637Arg) | not specified [RCV004223625] | uncertain significance | 4 | 90628210 | 90628210 | Human | | name |
| 155985730 | CV2368152 | single nucleotide variant | NM_001284240.2(CCSER2):c.1726C>T (p.Arg576Cys) | not specified [RCV004216497] | uncertain significance | 10 | 84425751 | 84425751 | Human | | name |
| 156385025 | CV2371672 | single nucleotide variant | NM_001145065.2(CCSER1):c.1982C>T (p.Pro661Leu) | not specified [RCV004216910] | uncertain significance | 4 | 90723963 | 90723963 | Human | | name |
| 156347962 | CV2383015 | single nucleotide variant | NM_001284240.2(CCSER2):c.1000A>G (p.Met334Val) | not specified [RCV004217600] | uncertain significance | 10 | 84372052 | 84372052 | Human | | name |
| 156348355 | CV2384941 | single nucleotide variant | NM_001284240.2(CCSER2):c.2407G>A (p.Glu803Lys) | not specified [RCV004226177] | uncertain significance | 10 | 84513530 | 84513530 | Human | | name |
| 156215071 | CV2385964 | single nucleotide variant | NM_001284240.2(CCSER2):c.1321C>T (p.His441Tyr) | not specified [RCV004229040] | uncertain significance | 10 | 84372373 | 84372373 | Human | | name |
| 156258069 | CV2395326 | single nucleotide variant | NM_001284240.2(CCSER2):c.1891C>A (p.Pro631Thr) | not specified [RCV004239422] | uncertain significance | 10 | 84438534 | 84438534 | Human | | name |
| 156003329 | CV2399650 | single nucleotide variant | NM_001145065.2(CCSER1):c.2555C>T (p.Thr852Met) | not specified [RCV004244165] | likely benign | 4 | 91598909 | 91598909 | Human | | name |
| 329375254 | CV2431434 | single nucleotide variant | NM_001284240.2(CCSER2):c.1838A>G (p.Tyr613Cys) | not specified [RCV004254599] | uncertain significance | 10 | 84425863 | 84425863 | Human | | name |
| 329390624 | CV2437138 | single nucleotide variant | NM_001145065.2(CCSER1):c.2270A>G (p.Lys757Arg) | not specified [RCV004262945] | uncertain significance | 4 | 91598624 | 91598624 | Human | | name |
| 329365206 | CV2440140 | single nucleotide variant | NM_001145065.2(CCSER1):c.2168A>G (p.Tyr723Cys) | not specified [RCV004260602] | uncertain significance | 4 | 90923443 | 90923443 | Human | | name |
| 329398850 | CV2442978 | single nucleotide variant | NM_001284240.2(CCSER2):c.1340A>G (p.Gln447Arg) | not specified [RCV004253571] | uncertain significance | 10 | 84372392 | 84372392 | Human | | name |
| 329354629 | CV2444579 | single nucleotide variant | NM_001145065.2(CCSER1):c.2189G>T (p.Arg730Ile) | not specified [RCV004256802] | uncertain significance | 4 | 91085966 | 91085966 | Human | | name |
| 329362302 | CV2444580 | single nucleotide variant | NM_001145065.2(CCSER1):c.2190A>T (p.Arg730Ser) | not specified [RCV004256803] | uncertain significance | 4 | 91085967 | 91085967 | Human | | name |
| 329368592 | CV2450373 | single nucleotide variant | NM_001284240.2(CCSER2):c.2341C>T (p.Pro781Ser) | not specified [RCV004271446] | uncertain significance | 10 | 84513464 | 84513464 | Human | | name |
| 329351854 | CV2455394 | single nucleotide variant | NM_001284240.2(CCSER2):c.1777A>G (p.Lys593Glu) | not specified [RCV004274886] | uncertain significance | 10 | 84425802 | 84425802 | Human | | name |
| 401721468 | CV2673726 | single nucleotide variant | NM_001145065.2(CCSER1):c.2280T>G (p.His760Gln) | not specified [RCV004282452] | uncertain significance | 4 | 91598634 | 91598634 | Human | | name |
| 401749707 | CV2694720 | single nucleotide variant | NM_001145065.2(CCSER1):c.2509G>A (p.Glu837Lys) | not specified [RCV004298810] | uncertain significance | 4 | 91598863 | 91598863 | Human | | name |
| 401732243 | CV2708738 | single nucleotide variant | NM_001145065.2(CCSER1):c.1069G>A (p.Ala357Thr) | not specified [RCV004307707] | uncertain significance | 4 | 90309353 | 90309353 | Human | | name |
| 401765418 | CV2712710 | single nucleotide variant | NM_001284240.2(CCSER2):c.1768G>A (p.Gly590Ser) | not specified [RCV004308018] | uncertain significance | 10 | 84425793 | 84425793 | Human | | name |
| 401780060 | CV2725850 | single nucleotide variant | NM_001145065.2(CCSER1):c.1751A>G (p.Asp584Gly) | not specified [RCV004316311] | uncertain significance | 4 | 90628051 | 90628051 | Human | | name |
| 401768705 | CV2735399 | single nucleotide variant | NM_001145065.2(CCSER1):c.1436A>G (p.Asp479Gly) | not specified [RCV004334051] | uncertain significance | 4 | 90312974 | 90312974 | Human | | name |
| 401887077 | CV2775590 | single nucleotide variant | NM_001145065.2(CCSER1):c.1736T>C (p.Leu579Pro) | not specified [RCV004350749] | uncertain significance | 4 | 90628036 | 90628036 | Human | | name |
| 401880375 | CV2780059 | single nucleotide variant | NM_001284240.2(CCSER2):c.2172A>G (p.Ile724Met) | not specified [RCV004355724] | uncertain significance | 10 | 84470395 | 84470395 | Human | | name |
| 401894560 | CV2788428 | single nucleotide variant | NM_001145065.2(CCSER1):c.2512G>A (p.Gly838Arg) | not specified [RCV004354956] | uncertain significance | 4 | 91598866 | 91598866 | Human | | name |
| 405757234 | CV3303331 | single nucleotide variant | NM_001145065.2(CCSER1):c.1013C>T (p.Pro338Leu) | not specified [RCV004433017] | uncertain significance | 4 | 90309297 | 90309297 | Human | | name |
| 405757249 | CV3303333 | single nucleotide variant | NM_001145065.2(CCSER1):c.1298A>G (p.His433Arg) | not specified [RCV004433019] | uncertain significance | 4 | 90309582 | 90309582 | Human | | name |
| 405757257 | CV3303334 | single nucleotide variant | NM_001145065.2(CCSER1):c.1351C>T (p.Arg451Cys) | not specified [RCV004433020] | uncertain significance | 4 | 90312889 | 90312889 | Human | | name |
| 405757269 | CV3303336 | single nucleotide variant | NM_001145065.2(CCSER1):c.1765G>C (p.Ala589Pro) | not specified [RCV004433022] | uncertain significance | 4 | 90628065 | 90628065 | Human | | name |
| 405757277 | CV3303337 | single nucleotide variant | NM_001145065.2(CCSER1):c.1934G>A (p.Ser645Asn) | not specified [RCV004433023] | uncertain significance | 4 | 90723915 | 90723915 | Human | | name |
| 405757295 | CV3303339 | single nucleotide variant | NM_001145065.2(CCSER1):c.2264A>G (p.Asp755Gly) | not specified [RCV004433025] | uncertain significance | 4 | 91598618 | 91598618 | Human | | name |
| 405757301 | CV3303340 | single nucleotide variant | NM_001145065.2(CCSER1):c.2602A>G (p.Arg868Gly) | not specified [RCV004433026] | uncertain significance | 4 | 91598956 | 91598956 | Human | | name |
| 405757339 | CV3303346 | single nucleotide variant | NM_001284240.2(CCSER2):c.1316A>C (p.Glu439Ala) | not specified [RCV004433032] | uncertain significance | 10 | 84372368 | 84372368 | Human | | name |
| 405757360 | CV3303349 | single nucleotide variant | NM_001284240.2(CCSER2):c.1681C>T (p.Pro561Ser) | not specified [RCV004433035] | uncertain significance | 10 | 84417837 | 84417837 | Human | | name |
| 405757365 | CV3303350 | single nucleotide variant | NM_001284240.2(CCSER2):c.1736G>A (p.Arg579Gln) | not specified [RCV004433036] | uncertain significance | 10 | 84425761 | 84425761 | Human | | name |
| 405757371 | CV3303351 | single nucleotide variant | NM_001284240.2(CCSER2):c.1753C>T (p.Arg585Trp) | not specified [RCV004433037] | uncertain significance | 10 | 84425778 | 84425778 | Human | | name |
| 405757377 | CV3303352 | single nucleotide variant | NM_001284240.2(CCSER2):c.1810C>A (p.His604Asn) | not specified [RCV004433038] | uncertain significance | 10 | 84425835 | 84425835 | Human | | name |
| 405757387 | CV3303353 | single nucleotide variant | NM_001284240.2(CCSER2):c.1928T>C (p.Phe643Ser) | not specified [RCV004433039] | uncertain significance | 10 | 84438571 | 84438571 | Human | | name |
| 407497577 | CV3424804 | single nucleotide variant | NM_001284240.2(CCSER2):c.2246A>T (p.His749Leu) | not specified [RCV004606410] | uncertain significance | 10 | 84477585 | 84477585 | Human | | name |
| 407497544 | CV3428741 | single nucleotide variant | NM_001145065.2(CCSER1):c.2372G>A (p.Ser791Asn) | not specified [RCV004606403] | uncertain significance | 4 | 91598726 | 91598726 | Human | | name |
| 407497550 | CV3428742 | single nucleotide variant | NM_001145065.2(CCSER1):c.1187T>G (p.Phe396Cys) | not specified [RCV004606404] | uncertain significance | 4 | 90309471 | 90309471 | Human | | name |
| 407497560 | CV3428744 | single nucleotide variant | NM_001284240.2(CCSER2):c.2395C>T (p.Pro799Ser) | not specified [RCV004606406] | uncertain significance | 10 | 84513518 | 84513518 | Human | | name |
| 407497564 | CV3428745 | single nucleotide variant | NM_001284240.2(CCSER2):c.2188G>A (p.Glu730Lys) | not specified [RCV004606407] | uncertain significance | 10 | 84470411 | 84470411 | Human | | name |
| 597777147 | CV3638399 | single nucleotide variant | NM_001145065.2(CCSER1):c.1619C>T (p.Ser540Leu) | not specified [RCV004898683] | uncertain significance | 4 | 90468249 | 90468249 | Human | | name |
| 597777151 | CV3638400 | single nucleotide variant | NM_001145065.2(CCSER1):c.2596C>A (p.Pro866Thr) | not specified [RCV004898684] | uncertain significance | 4 | 91598950 | 91598950 | Human | | name |
| 597777153 | CV3638402 | single nucleotide variant | NM_001145065.2(CCSER1):c.1500G>A (p.Met500Ile) | not specified [RCV004898685] | uncertain significance | 4 | 90313038 | 90313038 | Human | | name |
| 597762247 | CV3638403 | single nucleotide variant | NM_001145065.2(CCSER1):c.1738A>G (p.Lys580Glu) | not specified [RCV004895137] | uncertain significance | 4 | 90628038 | 90628038 | Human | | name |
| 597777157 | CV3638404 | single nucleotide variant | NM_001145065.2(CCSER1):c.2296C>T (p.Arg766Cys) | not specified [RCV004898686] | uncertain significance | 4 | 91598650 | 91598650 | Human | | name |
| 597777161 | CV3638405 | single nucleotide variant | NM_001145065.2(CCSER1):c.2119G>C (p.Ala707Pro) | not specified [RCV004898687] | uncertain significance | 4 | 90923394 | 90923394 | Human | | name |
| 597762263 | CV3638411 | single nucleotide variant | NM_001284240.2(CCSER2):c.2413C>T (p.Arg805Cys) | not specified [RCV004895140] | uncertain significance | 10 | 84513536 | 84513536 | Human | | name |
| 597777179 | CV3638415 | single nucleotide variant | NM_001284240.2(CCSER2):c.1676A>G (p.Asp559Gly) | not specified [RCV004898692] | uncertain significance | 10 | 84417832 | 84417832 | Human | | name |
| 597762279 | CV3638416 | single nucleotide variant | NM_001284240.2(CCSER2):c.2138A>G (p.Lys713Arg) | not specified [RCV004895143] | uncertain significance | 10 | 84464006 | 84464006 | Human | | name |
| 597777191 | CV3638420 | single nucleotide variant | NM_001284240.2(CCSER2):c.1891C>G (p.Pro631Ala) | not specified [RCV004898695] | uncertain significance | 10 | 84438534 | 84438534 | Human | | name |
| 598205967 | CV3939931 | single nucleotide variant | NM_001145065.2(CCSER1):c.2118G>C (p.Lys706Asn) | not specified [RCV005315027] | uncertain significance | 4 | 90923393 | 90923393 | Human | | name |
| 598205987 | CV3939934 | single nucleotide variant | NM_001145065.2(CCSER1):c.1753G>A (p.Val585Ile) | not specified [RCV005315030] | likely benign | 4 | 90628053 | 90628053 | Human | | name |
| 598205993 | CV3939935 | single nucleotide variant | NM_001145065.2(CCSER1):c.2095G>A (p.Gly699Arg) | not specified [RCV005315031] | uncertain significance | 4 | 90923370 | 90923370 | Human | | name |
| 598228552 | CV3939937 | single nucleotide variant | NM_001145065.2(CCSER1):c.2483G>A (p.Ser828Asn) | not specified [RCV005319096] | likely benign | 4 | 91598837 | 91598837 | Human | | name |
| 598206006 | CV3939938 | single nucleotide variant | NM_001145065.2(CCSER1):c.1973C>T (p.Pro658Leu) | not specified [RCV005315033] | uncertain significance | 4 | 90723954 | 90723954 | Human | | name |
| 598206026 | CV3939941 | single nucleotide variant | NM_001145065.2(CCSER1):c.1906T>G (p.Leu636Val) | not specified [RCV005315036] | uncertain significance | 4 | 90628206 | 90628206 | Human | | name |
| 598228562 | CV3939942 | single nucleotide variant | NM_001145065.2(CCSER1):c.1153A>G (p.Met385Val) | not specified [RCV005319097] | uncertain significance | 4 | 90309437 | 90309437 | Human | | name |
| 598206039 | CV3939944 | single nucleotide variant | NM_001145065.2(CCSER1):c.2347T>C (p.Cys783Arg) | not specified [RCV005315038] | uncertain significance | 4 | 91598701 | 91598701 | Human | | name |
| 598206078 | CV3939950 | single nucleotide variant | NM_001284240.2(CCSER2):c.1744A>G (p.Arg582Gly) | not specified [RCV005315044] | uncertain significance | 10 | 84425769 | 84425769 | Human | | name |
| 598206082 | CV3939951 | single nucleotide variant | NM_001284240.2(CCSER2):c.1514A>G (p.Asp505Gly) | not specified [RCV005315045] | uncertain significance | 10 | 84373715 | 84373715 | Human | | name |
| 598206096 | CV3939953 | single nucleotide variant | NM_001284240.2(CCSER2):c.2318G>A (p.Arg773Gln) | not specified [RCV005315047] | uncertain significance | 10 | 84477657 | 84477657 | Human | | name |
| 15113804 | CV709521 | single nucleotide variant | NM_001145065.2(CCSER1):c.2201T>C (p.Val734Ala) | not provided [RCV000961558] | benign | 4 | 91085978 | 91085978 | Human | | name |
| 8631321 | CV86482 | single nucleotide variant | NM_001145065.1(CCSER1):c.1183G>A (p.Gly395Arg) | Malignant melanoma [RCV000066573] | not provided | 4 | 90309467 | 90309467 | Human | | name |
| 8631323 | CV86484 | single nucleotide variant | NM_001145065.1(CCSER1):c.1848A>G (p.Ile616Met) | Malignant melanoma [RCV000066575] | not provided | 4 | 90628148 | 90628148 | Human | | name |