| 156153433 | CV2369380 | single nucleotide variant | NM_153289.4(DEFB119):c.61+1291C>T | not specified [RCV004208281] | uncertain significance | 20 | 31389132 | 31389132 | Human | | name |
| 401778017 | CV2718426 | single nucleotide variant | NM_153289.4(DEFB119):c.61+1219C>T | not specified [RCV004318245] | uncertain significance | 20 | 31389204 | 31389204 | Human | | name |
| 407465720 | CV3426758 | single nucleotide variant | NM_153289.4(DEFB119):c.61+1262G>A | not specified [RCV004613779] | uncertain significance | 20 | 31389161 | 31389161 | Human | | name |
| 597640740 | CV3658552 | single nucleotide variant | NM_153289.4(DEFB119):c.61+1274G>A | not specified [RCV004908997] | uncertain significance | 20 | 31389149 | 31389149 | Human | | name |
| 597640659 | CV3658539 | single nucleotide variant | NM_001369057.2(DEFB112):c.58+1261A>G | not specified [RCV004908986] | uncertain significance | 6 | 50048551 | 50048551 | Human | | name |
| 8637243 | CV92469 | single nucleotide variant | NM_153289.3(DEFB119):c.3G>A (p.Met1Ile) | Malignant melanoma [RCV000072567] | not provided | 20 | 31390481 | 31390481 | Human | | name |
| 156343731 | CV2364155 | single nucleotide variant | NM_153289.4(DEFB119):c.83G>A (p.Cys28Tyr) | not specified [RCV004223399] | uncertain significance | 20 | 31377418 | 31377418 | Human | | name |
| 401875129 | CV2791113 | single nucleotide variant | NM_153289.4(DEFB119):c.80G>A (p.Arg27Gln) | not specified [RCV004356489] | uncertain significance | 20 | 31377421 | 31377421 | Human | | name |
| 405668768 | CV3240166 | single nucleotide variant | NM_054112.3(DEFB118):c.53T>C (p.Ile18Thr) | not specified [RCV004368218] | uncertain significance | 20 | 31368703 | 31368703 | Human | | name |
| 597640411 | CV3658550 | single nucleotide variant | NM_054112.3(DEFB118):c.49G>C (p.Val17Leu) | not specified [RCV004908996] | uncertain significance | 20 | 31368699 | 31368699 | Human | | name |
| 156221351 | CV2222524 | single nucleotide variant | NM_153289.4(DEFB119):c.140T>G (p.Leu47Arg) | not specified [RCV004099365] | uncertain significance | 20 | 31377361 | 31377361 | Human | | name |
| 156389389 | CV2226251 | single nucleotide variant | NM_153289.4(DEFB119):c.109G>A (p.Ala37Thr) | not specified [RCV004099500] | uncertain significance | 20 | 31377392 | 31377392 | Human | | name |
| 156077882 | CV2248448 | single nucleotide variant | NM_153289.4(DEFB119):c.185G>A (p.Arg62Lys) | not specified [RCV004119585] | uncertain significance | 20 | 31377316 | 31377316 | Human | | name |
| 156253195 | CV2311438 | single nucleotide variant | NM_054112.3(DEFB118):c.271A>G (p.Thr91Ala) | not specified [RCV004168284] | uncertain significance | 20 | 31373069 | 31373069 | Human | | name |
| 156183932 | CV2335477 | single nucleotide variant | NM_054112.3(DEFB118):c.148A>T (p.Asn50Tyr) | not specified [RCV004191647] | uncertain significance | 20 | 31372946 | 31372946 | Human | | name |
| 156101450 | CV2367647 | single nucleotide variant | NM_054112.3(DEFB118):c.161G>A (p.Cys54Tyr) | not specified [RCV004211569] | uncertain significance | 20 | 31372959 | 31372959 | Human | | name |
| 405668753 | CV3240163 | single nucleotide variant | NM_054112.3(DEFB118):c.142T>C (p.Cys48Arg) | not specified [RCV004368215] | uncertain significance | 20 | 31372940 | 31372940 | Human | | name |
| 405668758 | CV3240164 | single nucleotide variant | NM_054112.3(DEFB118):c.161G>T (p.Cys54Phe) | not specified [RCV004368216] | uncertain significance | 20 | 31372959 | 31372959 | Human | | name |
| 405668773 | CV3240167 | single nucleotide variant | NM_153289.4(DEFB119):c.119A>G (p.Lys40Arg) | not specified [RCV004368219] | likely benign | 20 | 31377382 | 31377382 | Human | | name |
| 597640417 | CV3658553 | single nucleotide variant | NM_153289.4(DEFB119):c.217G>A (p.Asp73Asn) | not specified [RCV004908998] | uncertain significance | 20 | 31377284 | 31377284 | Human | | name |
| 597640423 | CV3658554 | single nucleotide variant | NM_153289.4(DEFB119):c.221G>C (p.Trp74Ser) | not specified [RCV004908999] | uncertain significance | 20 | 31377280 | 31377280 | Human | | name |
| 598223703 | CV3956525 | single nucleotide variant | NM_001037730.1(DEFB115):c.7C>T (p.Pro3Ser) | not specified [RCV005318115] | uncertain significance | 20 | 31257670 | 31257670 | Human | | name |
| 598223729 | CV3956529 | single nucleotide variant | NM_153289.4(DEFB119):c.127G>A (p.Glu43Lys) | not specified [RCV005318119] | uncertain significance | 20 | 31377374 | 31377374 | Human | | name |
| 156178350 | CV2201585 | single nucleotide variant | NM_001037497.2(DEFB110):c.13C>A (p.Leu5Ile) | not specified [RCV004080074] | uncertain significance | 6 | 50021923 | 50021923 | Human | | name |
| 156223183 | CV2399961 | single nucleotide variant | NM_054112.3(DEFB118):c.365G>A (p.Ser122Asn) | not specified [RCV004246891] | uncertain significance | 20 | 31373163 | 31373163 | Human | | name |
| 401743778 | CV2696864 | single nucleotide variant | NM_001037729.1(DEFB113):c.10C>A (p.Leu4Ile) | not specified [RCV004290828] | uncertain significance | 6 | 49969616 | 49969616 | Human | | name |
| 401854359 | CV2766900 | single nucleotide variant | NM_001037729.1(DEFB113):c.16A>C (p.Ile6Leu) | not specified [RCV004343295] | uncertain significance | 6 | 49969610 | 49969610 | Human | | name |
| 407465715 | CV3426757 | single nucleotide variant | NM_054112.3(DEFB118):c.355G>A (p.Val119Ile) | not specified [RCV004613778] | uncertain significance | 20 | 31373153 | 31373153 | Human | | name |
| 597783109 | CV3658551 | single nucleotide variant | NM_054112.3(DEFB118):c.362A>G (p.His121Arg) | not specified [RCV004900173] | uncertain significance | 20 | 31373160 | 31373160 | Human | | name |
| 598223722 | CV3956528 | single nucleotide variant | NM_054112.3(DEFB118):c.329G>A (p.Arg110Lys) | not specified [RCV005318118] | uncertain significance | 20 | 31373127 | 31373127 | Human | | name |
| 8632107 | CV87313 | single nucleotide variant | NM_001037498.1(DEFB112):c.168G>A (p.Ala56=) | Malignant melanoma [RCV000067404] | not provided | 6 | 50043749 | 50043749 | Human | | name |
| 155934036 | CV2229062 | single nucleotide variant | NM_001037497.2(DEFB110):c.32A>C (p.His11Pro) | not specified [RCV004098837] | uncertain significance | 6 | 50021904 | 50021904 | Human | | name |
| 156073369 | CV2240690 | single nucleotide variant | NM_001037497.2(DEFB110):c.35T>A (p.Phe12Tyr) | not specified [RCV004119320] | uncertain significance | 6 | 50021901 | 50021901 | Human | | name |
| 156026337 | CV2242342 | single nucleotide variant | NM_001037730.1(DEFB115):c.44T>A (p.Leu15His) | not specified [RCV004111350] | uncertain significance | 20 | 31257707 | 31257707 | Human | | name |
| 156282435 | CV2252405 | single nucleotide variant | NM_001037497.2(DEFB110):c.63G>T (p.Lys21Asn) | not specified [RCV004116246] | uncertain significance | 6 | 50019118 | 50019118 | Human | | name |
| 156060280 | CV2263042 | single nucleotide variant | NM_001037497.2(DEFB110):c.56C>T (p.Ala19Val) | not specified [RCV004131299] | uncertain significance | 6 | 50019125 | 50019125 | Human | | name |
| 156396621 | CV2322478 | single nucleotide variant | NM_001037730.1(DEFB115):c.56C>A (p.Ala19Asp) | not specified [RCV004180599] | uncertain significance | 20 | 31257719 | 31257719 | Human | | name |
| 156081552 | CV2333790 | single nucleotide variant | NM_001037497.2(DEFB110):c.77A>G (p.Tyr26Cys) | not specified [RCV004181293] | uncertain significance | 6 | 50019104 | 50019104 | Human | | name |
| 329356016 | CV2430547 | single nucleotide variant | NM_001037497.2(DEFB110):c.52C>T (p.Pro18Ser) | not specified [RCV004252130] | uncertain significance | 6 | 50021884 | 50021884 | Human | | name |
| 329393276 | CV2449617 | single nucleotide variant | NM_001037499.2(DEFB114):c.94C>T (p.Arg32Cys) | not specified [RCV004268535] | uncertain significance | 6 | 49960408 | 49960408 | Human | | name |
| 329388792 | CV2469576 | single nucleotide variant | NM_001037499.2(DEFB114):c.40A>G (p.Thr14Ala) | not specified [RCV004283009] | uncertain significance | 6 | 49964066 | 49964066 | Human | | name |
| 401776970 | CV2711562 | single nucleotide variant | NM_001037731.1(DEFB116):c.76T>C (p.Phe26Leu) | not specified [RCV004306872] | uncertain significance | 20 | 31303445 | 31303445 | Human | | name |
| 401890179 | CV2762355 | single nucleotide variant | NM_001037499.2(DEFB114):c.83G>A (p.Arg28His) | not specified [RCV004335467] | uncertain significance | 6 | 49960419 | 49960419 | Human | | name |
| 405668705 | CV3240153 | single nucleotide variant | NM_001037497.2(DEFB110):c.76T>C (p.Tyr26His) | not specified [RCV004368205] | uncertain significance | 6 | 50019105 | 50019105 | Human | | name |
| 405668724 | CV3240157 | single nucleotide variant | NM_001037499.2(DEFB114):c.43T>A (p.Phe15Ile) | not specified [RCV004368209] | uncertain significance | 6 | 49964063 | 49964063 | Human | | name |
| 405668728 | CV3240158 | single nucleotide variant | NM_001037499.2(DEFB114):c.98A>G (p.Tyr33Cys) | not specified [RCV004368210] | uncertain significance | 6 | 49960404 | 49960404 | Human | | name |
| 405668743 | CV3240161 | single nucleotide variant | NM_001037731.1(DEFB116):c.87C>A (p.His29Gln) | not specified [RCV004368213] | uncertain significance | 20 | 31303434 | 31303434 | Human | | name |
| 405668748 | CV3240162 | single nucleotide variant | NM_001037731.1(DEFB116):c.95A>G (p.Lys32Arg) | not specified [RCV004368214] | uncertain significance | 20 | 31303426 | 31303426 | Human | | name |
| 407465689 | CV3426751 | single nucleotide variant | NM_001037497.2(DEFB110):c.95G>A (p.Arg32Lys) | not specified [RCV004613772] | uncertain significance | 6 | 50019086 | 50019086 | Human | | name |
| 597640648 | CV3658541 | single nucleotide variant | NM_001037499.2(DEFB114):c.56C>A (p.Ala19Asp) | not specified [RCV004908988] | uncertain significance | 6 | 49960446 | 49960446 | Human | | name |
| 597640630 | CV3658545 | single nucleotide variant | NM_001037730.1(DEFB115):c.83A>G (p.Gln28Arg) | not specified [RCV004908991] | uncertain significance | 20 | 31257746 | 31257746 | Human | | name |
| 597640624 | CV3658546 | single nucleotide variant | NM_001037730.1(DEFB115):c.91C>A (p.Pro31Thr) | not specified [RCV004908992] | uncertain significance | 20 | 31257754 | 31257754 | Human | | name |
| 597640614 | CV3658548 | single nucleotide variant | NM_001037731.1(DEFB116):c.37A>T (p.Ile13Phe) | not specified [RCV004908994] | uncertain significance | 20 | 31308549 | 31308549 | Human | | name |
| 156134605 | CV2213189 | single nucleotide variant | NM_001037731.1(DEFB116):c.256G>A (p.Asp86Asn) | not specified [RCV004085418] | uncertain significance | 20 | 31303265 | 31303265 | Human | | name |
| 156337370 | CV2228680 | single nucleotide variant | NM_001369057.2(DEFB112):c.202T>C (p.Cys68Arg) | not specified [RCV004092899] | uncertain significance | 6 | 50043658 | 50043658 | Human | | name |
| 156239987 | CV2235994 | single nucleotide variant | NM_001037728.2(DEFB110):c.122C>T (p.Thr41Met) | not specified [RCV004113867] | uncertain significance | 6 | 50009205 | 50009205 | Human | | name |
| 156114134 | CV2268495 | single nucleotide variant | NM_001037731.1(DEFB116):c.193C>G (p.Gln65Glu) | not specified [RCV004130184] | uncertain significance | 20 | 31303328 | 31303328 | Human | | name |
| 156015966 | CV2270100 | single nucleotide variant | NM_001369057.2(DEFB112):c.235A>C (p.Lys79Gln) | not specified [RCV004129061] | uncertain significance | 6 | 50043625 | 50043625 | Human | | name |
| 156071024 | CV2289680 | single nucleotide variant | NM_001369057.2(DEFB112):c.143A>G (p.Asp48Gly) | not specified [RCV004148590] | uncertain significance | 6 | 50043717 | 50043717 | Human | | name |
| 156186931 | CV2302745 | single nucleotide variant | NM_001369057.2(DEFB112):c.176C>T (p.Pro59Leu) | not specified [RCV004162670] | uncertain significance | 6 | 50043684 | 50043684 | Human | | name |
| 156257367 | CV2322058 | single nucleotide variant | NM_001037730.1(DEFB115):c.202C>T (p.Pro68Ser) | not specified [RCV004173803] | uncertain significance | 20 | 31259567 | 31259567 | Human | | name |
| 155991283 | CV2372149 | single nucleotide variant | NM_001037729.1(DEFB113):c.126C>G (p.Cys42Trp) | not specified [RCV004223671] | uncertain significance | 6 | 49968800 | 49968800 | Human | | name |
| 155926967 | CV2395913 | single nucleotide variant | NM_001037730.1(DEFB115):c.125C>T (p.Thr42Ile) | not specified [RCV004237471] | likely benign | 20 | 31259490 | 31259490 | Human | | name |
| 329370942 | CV2431818 | single nucleotide variant | NM_001369057.2(DEFB112):c.196A>G (p.Thr66Ala) | not specified [RCV004254962] | uncertain significance | 6 | 50043664 | 50043664 | Human | | name |
| 329365547 | CV2440871 | single nucleotide variant | NM_001037731.1(DEFB116):c.197A>G (p.Lys66Arg) | not specified [RCV004261266] | uncertain significance | 20 | 31303324 | 31303324 | Human | | name |
| 401730905 | CV2674193 | single nucleotide variant | NM_001037729.1(DEFB113):c.131C>T (p.Pro44Leu) | not specified [RCV004289088] | uncertain significance | 6 | 49968795 | 49968795 | Human | | name |
| 401728419 | CV2686078 | single nucleotide variant | NM_001037731.1(DEFB116):c.269A>C (p.Asn90Thr) | not specified [RCV004297088] | uncertain significance | 20 | 31303252 | 31303252 | Human | | name |
| 401894004 | CV2770213 | single nucleotide variant | NM_001037729.1(DEFB113):c.240T>A (p.His80Gln) | not specified [RCV004356104] | uncertain significance | 6 | 49968686 | 49968686 | Human | | name |
| 401875048 | CV2791041 | single nucleotide variant | NM_001037497.2(DEFB110):c.146A>T (p.Asn49Ile) | not specified [RCV004354649] | uncertain significance | 6 | 50019035 | 50019035 | Human | | name |
| 405668697 | CV3240152 | single nucleotide variant | NM_001037497.2(DEFB110):c.155G>A (p.Arg52Lys) | not specified [RCV004368204] | uncertain significance | 6 | 50019026 | 50019026 | Human | | name |
| 405668710 | CV3240154 | single nucleotide variant | NM_001037729.1(DEFB113):c.172G>A (p.Val58Ile) | not specified [RCV004368206] | uncertain significance | 6 | 49968754 | 49968754 | Human | | name |
| 405668716 | CV3240155 | single nucleotide variant | NM_001037499.2(DEFB114):c.103C>T (p.Arg35Cys) | not specified [RCV004368207] | uncertain significance | 6 | 49960399 | 49960399 | Human | | name |
| 405668720 | CV3240156 | single nucleotide variant | NM_001037499.2(DEFB114):c.116A>G (p.Asp39Gly) | not specified [RCV004368208] | uncertain significance | 6 | 49960386 | 49960386 | Human | | name |
| 405668732 | CV3240159 | single nucleotide variant | NM_001037730.1(DEFB115):c.159G>C (p.Glu53Asp) | not specified [RCV004368211] | uncertain significance | 20 | 31259524 | 31259524 | Human | | name |
| 405668737 | CV3240160 | single nucleotide variant | NM_001037731.1(DEFB116):c.134G>C (p.Gly45Ala) | not specified [RCV004368212] | uncertain significance | 20 | 31303387 | 31303387 | Human | | name |
| 407465697 | CV3426753 | single nucleotide variant | NM_001369057.2(DEFB112):c.277C>T (p.Arg93Cys) | not specified [RCV004613774] | uncertain significance | 6 | 50043583 | 50043583 | Human | | name |
| 407465702 | CV3426754 | single nucleotide variant | NM_001037729.1(DEFB113):c.230G>A (p.Ser77Asn) | not specified [RCV004613775] | uncertain significance | 6 | 49968696 | 49968696 | Human | | name |
| 407465706 | CV3426755 | single nucleotide variant | NM_001037730.1(DEFB115):c.205A>G (p.Lys69Glu) | not specified [RCV004613776] | uncertain significance | 20 | 31259570 | 31259570 | Human | | name |
| 407465712 | CV3426756 | single nucleotide variant | NM_001037731.1(DEFB116):c.179C>G (p.Thr60Ser) | not specified [RCV004613777] | uncertain significance | 20 | 31303342 | 31303342 | Human | | name |
| 597640652 | CV3658540 | single nucleotide variant | NM_001037729.1(DEFB113):c.116G>A (p.Arg39His) | not specified [RCV004908987] | uncertain significance | 6 | 49968810 | 49968810 | Human | | name |
| 597640643 | CV3658542 | single nucleotide variant | NM_001037730.1(DEFB115):c.203C>T (p.Pro68Leu) | not specified [RCV004908989] | uncertain significance | 20 | 31259568 | 31259568 | Human | | name |
| 597640635 | CV3658544 | single nucleotide variant | NM_001037730.1(DEFB115):c.236A>T (p.Asp79Val) | not specified [RCV004908990] | uncertain significance | 20 | 31259601 | 31259601 | Human | | name |
| 597640619 | CV3658547 | single nucleotide variant | NM_001037731.1(DEFB116):c.179C>A (p.Thr60Asn) | not specified [RCV004908993] | uncertain significance | 20 | 31303342 | 31303342 | Human | | name |
| 597640609 | CV3658549 | single nucleotide variant | NM_001037731.1(DEFB116):c.265T>C (p.Ser89Pro) | not specified [RCV004908995] | uncertain significance | 20 | 31303256 | 31303256 | Human | | name |
| 598223683 | CV3956521 | single nucleotide variant | NM_001037729.1(DEFB113):c.188C>T (p.Ala63Val) | not specified [RCV005318112] | likely benign | 6 | 49968738 | 49968738 | Human | | name |
| 598160661 | CV3956522 | single nucleotide variant | NM_001037729.1(DEFB113):c.130C>A (p.Pro44Thr) | not specified [RCV005328822] | likely benign | 6 | 49968796 | 49968796 | Human | | name |
| 598223698 | CV3956524 | single nucleotide variant | NM_001037729.1(DEFB113):c.169A>G (p.Asn57Asp) | not specified [RCV005318114] | likely benign | 6 | 49968757 | 49968757 | Human | | name |
| 598223711 | CV3956526 | single nucleotide variant | NM_001037731.1(DEFB116):c.256G>T (p.Asp86Tyr) | not specified [RCV005318116] | uncertain significance | 20 | 31303265 | 31303265 | Human | | name |
| 598223716 | CV3956527 | single nucleotide variant | NM_001037731.1(DEFB116):c.133G>A (p.Gly45Ser) | not specified [RCV005318117] | uncertain significance | 20 | 31303388 | 31303388 | Human | | name |
| 8632106 | CV87312 | single nucleotide variant | NM_001037498.1(DEFB112):c.271G>A (p.Asp91Asn) | Malignant melanoma [RCV000067403] | not provided | 6 | 50043646 | 50043646 | Human | | name |
| 155927335 | CV2230769 | single nucleotide variant | NM_001037731.1(DEFB116):c.304A>G (p.Ile102Val) | not specified [RCV004091989] | uncertain significance | 20 | 31303217 | 31303217 | Human | | name |