| 598163798 | CV3923743 | single nucleotide variant | NM_030752.3(TCP1):c.11C>T (p.Pro4Leu) | not specified [RCV005283183] | likely benign | 6 | 159789458 | 159789458 | Human | | name |
| 405747964 | CV3332028 | single nucleotide variant | NM_030752.3(TCP1):c.51C>G (p.Ile17Met) | not specified [RCV004466659] | uncertain significance | 6 | 159789418 | 159789418 | Human | | name |
| 405747979 | CV3332030 | single nucleotide variant | NM_030752.3(TCP1):c.68T>C (p.Met23Thr) | not specified [RCV004466661] | uncertain significance | 6 | 159788140 | 159788140 | Human | | name |
| 329388572 | CV2469389 | single nucleotide variant | NM_030752.3(TCP1):c.257T>C (p.Val86Ala) | not specified [RCV004281020] | uncertain significance | 6 | 159787765 | 159787765 | Human | | name |
| 401860505 | CV2758508 | single nucleotide variant | NM_030752.3(TCP1):c.250A>G (p.Lys84Glu) | not specified [RCV004335558] | uncertain significance | 6 | 159787772 | 159787772 | Human | | name |
| 401863128 | CV2765540 | single nucleotide variant | NM_030752.3(TCP1):c.178A>G (p.Thr60Ala) | not specified [RCV004342244] | uncertain significance | 6 | 159787844 | 159787844 | Human | | name |
| 407517588 | CV3485944 | single nucleotide variant | NM_030752.3(TCP1):c.112C>G (p.Pro38Ala) | not specified [RCV004675665] | uncertain significance | 6 | 159788096 | 159788096 | Human | | name |
| 407530824 | CV3485945 | single nucleotide variant | NM_030752.3(TCP1):c.183C>G (p.Ile61Met) | not specified [RCV004682108] | uncertain significance | 6 | 159787839 | 159787839 | Human | | name |
| 156259471 | CV2384044 | single nucleotide variant | NM_030752.3(TCP1):c.511A>G (p.Met171Val) | not specified [RCV004225013] | uncertain significance | 6 | 159784825 | 159784825 | Human | | name |
| 156000666 | CV2391780 | single nucleotide variant | NM_030752.3(TCP1):c.952C>T (p.Arg318Cys) | not specified [RCV004235662] | uncertain significance | 6 | 159780956 | 159780956 | Human | | name |
| 156083720 | CV2395049 | single nucleotide variant | NM_030752.3(TCP1):c.731C>A (p.Thr244Lys) | not specified [RCV004236735] | uncertain significance | 6 | 159784007 | 159784007 | Human | | name |
| 401769019 | CV2686472 | single nucleotide variant | NM_030752.3(TCP1):c.388C>T (p.Arg130Cys) | not specified [RCV004290626] | uncertain significance | 6 | 159785486 | 159785486 | Human | | name |
| 401778391 | CV2709076 | single nucleotide variant | NM_030752.3(TCP1):c.918G>A (p.Met306Ile) | not specified [RCV004314413] | uncertain significance | 6 | 159780990 | 159780990 | Human | | name |
| 401864899 | CV2757273 | single nucleotide variant | NM_030752.3(TCP1):c.688G>A (p.Val230Ile) | not specified [RCV004338864] | uncertain significance | 6 | 159784050 | 159784050 | Human | | name |
| 405747958 | CV3332027 | single nucleotide variant | NM_030752.3(TCP1):c.365G>A (p.Arg122Gln) | not specified [RCV004466658] | uncertain significance | 6 | 159785912 | 159785912 | Human | | name |
| 407517586 | CV3485942 | single nucleotide variant | NM_030752.3(TCP1):c.826C>G (p.Gln276Glu) | not specified [RCV004675663] | uncertain significance | 6 | 159781082 | 159781082 | Human | | name |
| 407517591 | CV3485946 | single nucleotide variant | NM_030752.3(TCP1):c.769C>T (p.Pro257Ser) | not specified [RCV004675666] | uncertain significance | 6 | 159783969 | 159783969 | Human | | name |
| 407530826 | CV3485947 | single nucleotide variant | NM_030752.3(TCP1):c.398A>G (p.Asn133Ser) | not specified [RCV004682109] | likely benign | 6 | 159785476 | 159785476 | Human | | name |
| 407517595 | CV3485948 | single nucleotide variant | NM_030752.3(TCP1):c.809T>C (p.Ile270Thr) | not specified [RCV004675667] | uncertain significance | 6 | 159781099 | 159781099 | Human | | name |
| 597772865 | CV3615934 | single nucleotide variant | NM_030752.3(TCP1):c.466A>G (p.Met156Val) | not specified [RCV004871938] | uncertain significance | 6 | 159785408 | 159785408 | Human | | name |
| 597772874 | CV3615936 | single nucleotide variant | NM_030752.3(TCP1):c.707G>T (p.Cys236Phe) | not specified [RCV004871940] | uncertain significance | 6 | 159784031 | 159784031 | Human | | name |
| 597649092 | CV3703377 | duplication | NM_030752.3(TCP1):c.1502dup (p.Gly502fs) | Intellectual developmental disorder with polymicrogyria and seizures [RCV005000609] | pathogenic | 6 | 159779213 | 159779214 | Human | 1 | name |
| 598238145 | CV3893364 | single nucleotide variant | NM_030752.3(TCP1):c.784C>T (p.Gln262Ter) | not provided [RCV005256097] | uncertain significance | 6 | 159783954 | 159783954 | Human | | name |
| 598237994 | CV3893377 | deletion | NM_030752.3(TCP1):c.1238del (p.Gly413fs) | not provided [RCV005256110] | uncertain significance | 6 | 159779947 | 159779947 | Human | | name |
| 598237969 | CV3893378 | single nucleotide variant | NM_030752.3(TCP1):c.707G>C (p.Cys236Ser) | not provided [RCV005256111] | uncertain significance | 6 | 159784031 | 159784031 | Human | | name |
| 598210131 | CV3923747 | single nucleotide variant | NM_030752.3(TCP1):c.911G>A (p.Gly304Asp) | not specified [RCV005291800] | uncertain significance | 6 | 159780997 | 159780997 | Human | | name |
| 156031365 | CV2274920 | single nucleotide variant | NM_030752.3(TCP1):c.1275C>G (p.Asn425Lys) | not specified [RCV004134982] | uncertain significance | 6 | 159779910 | 159779910 | Human | | name |
| 155966013 | CV2284160 | single nucleotide variant | NM_030752.3(TCP1):c.1462C>T (p.Leu488Phe) | not specified [RCV004144749] | uncertain significance | 6 | 159779254 | 159779254 | Human | | name |
| 156169963 | CV2312471 | single nucleotide variant | NM_030752.3(TCP1):c.1096A>C (p.Asn366His) | not specified [RCV004167439] | uncertain significance | 6 | 159780444 | 159780444 | Human | | name |
| 156392815 | CV2385390 | single nucleotide variant | NM_030752.3(TCP1):c.1112C>T (p.Thr371Met) | not specified [RCV004231039] | uncertain significance | 6 | 159780073 | 159780073 | Human | | name |
| 329401295 | CV2442307 | single nucleotide variant | NM_030752.3(TCP1):c.1450A>C (p.Lys484Gln) | not specified [RCV004264785] | uncertain significance | 6 | 159779631 | 159779631 | Human | | name |
| 401745579 | CV2698565 | single nucleotide variant | NM_030752.3(TCP1):c.1436A>G (p.Glu479Gly) | not specified [RCV004299051] | uncertain significance | 6 | 159779645 | 159779645 | Human | | name |
| 401758686 | CV2700698 | single nucleotide variant | NM_030752.3(TCP1):c.1641T>A (p.Asp547Glu) | not specified [RCV004313411] | uncertain significance | 6 | 159779075 | 159779075 | Human | | name |
| 401721350 | CV2709925 | single nucleotide variant | NM_030752.3(TCP1):c.1109G>C (p.Arg370Pro) | not specified [RCV004314999] | uncertain significance | 6 | 159780076 | 159780076 | Human | | name |
| 401864613 | CV2777929 | single nucleotide variant | NM_030752.3(TCP1):c.1049A>T (p.Glu350Val) | not specified [RCV004347896] | uncertain significance | 6 | 159780491 | 159780491 | Human | | name |
| 405747951 | CV3332026 | single nucleotide variant | NM_030752.3(TCP1):c.1075G>C (p.Asp359His) | not specified [RCV004466657] | uncertain significance | 6 | 159780465 | 159780465 | Human | | name |
| 407487477 | CV3485943 | single nucleotide variant | NM_030752.3(TCP1):c.1639G>A (p.Asp547Asn) | not specified [RCV004675664] | uncertain significance | 6 | 159779077 | 159779077 | Human | | name |
| 597772869 | CV3615935 | single nucleotide variant | NM_030752.3(TCP1):c.1493A>G (p.Asn498Ser) | not specified [RCV004871939] | uncertain significance | 6 | 159779223 | 159779223 | Human | | name |
| 598210106 | CV3923744 | single nucleotide variant | NM_030752.3(TCP1):c.1115C>G (p.Ser372Cys) | not specified [RCV005291797] | uncertain significance | 6 | 159780070 | 159780070 | Human | | name |
| 598210113 | CV3923745 | single nucleotide variant | NM_030752.3(TCP1):c.1108C>G (p.Arg370Gly) | not specified [RCV005291798] | uncertain significance | 6 | 159780077 | 159780077 | Human | | name |
| 598210122 | CV3923746 | single nucleotide variant | NM_030752.3(TCP1):c.1645G>A (p.Val549Ile) | not specified [RCV005291799] | uncertain significance | 6 | 159779071 | 159779071 | Human | | name |
| 597649086 | CV3703376 | deletion | NM_030752.3(TCP1):c.252_255del (p.Glu85fs) | Intellectual developmental disorder with polymicrogyria and seizures [RCV005000608] | pathogenic | 6 | 159787767 | 159787770 | Human | 1 | name |
| 597649096 | CV3703378 | deletion | NM_030752.3(TCP1):c.793_796del (p.Gln265fs) | Intellectual developmental disorder with polymicrogyria and seizures [RCV005000610] | pathogenic | 6 | 159783942 | 159783945 | Human | 1 | name |
| 598238170 | CV3893362 | deletion | NM_030752.3(TCP1):c.934_935del (p.Leu312fs) | not provided [RCV005256095] | uncertain significance | 6 | 159780973 | 159780974 | Human | | name |
| 597649083 | CV3703375 | deletion | NM_030752.3(TCP1):c.583_584del (p.Ser194_Val195insTer) | Intellectual developmental disorder with polymicrogyria and seizures [RCV005000607] | pathogenic | 6 | 159784752 | 159784753 | Human | 1 | name |
| 401921110 | CV2828129 | single nucleotide variant | NR_163197.1(TCP10):n.668A>G | not provided [RCV003432167] | likely benign | 6 | 167376666 | 167376666 | Human | | name |
| 401921432 | CV2828130 | single nucleotide variant | NR_163197.1(TCP10):n.236C>T | not provided [RCV003432168] | likely benign | 6 | 167382850 | 167382850 | Human | | name |
| 13442822 | CV434608 | single nucleotide variant | NR_163193.1(TCP10):n.943C>T | not provided [RCV000509499] | not provided | 6 | 167373273 | 167373273 | Human | | name |
| 15099034 | CV699445 | single nucleotide variant | NR_163193.1(TCP10):n.623G>A | not provided [RCV000946981] | benign | 6 | 167376565 | 167376565 | Human | | name |
| 15099036 | CV699446 | single nucleotide variant | NR_163193.1(TCP10):n.566G>A | not provided [RCV000946982] | benign | 6 | 167376622 | 167376622 | Human | | name |
| 15099051 | CV699447 | single nucleotide variant | NR_163193.1(TCP10):n.516G>A | not provided [RCV000948755] | likely benign | 6 | 167376672 | 167376672 | Human | | name |
| 13442664 | CV434607 | single nucleotide variant | NR_163193.1(TCP10):n.1018G>A | not provided [RCV000509150] | not provided | 6 | 167373198 | 167373198 | Human | | name |
| 405748057 | CV3332040 | single nucleotide variant | NM_001370687.1(TCP11):c.-35C>G | not specified [RCV004466671] | likely benign | 6 | 35141225 | 35141225 | Human | | name |
| 405748000 | CV3332033 | single nucleotide variant | NM_144659.7(TCP10L):c.4C>G (p.Leu2Val) | not specified [RCV004466664] | uncertain significance | 21 | 32584301 | 32584301 | Human | | name |
| 407487489 | CV3485951 | single nucleotide variant | NM_144659.7(TCP10L):c.15A>C (p.Gln5His) | not specified [RCV004675669] | uncertain significance | 21 | 32584290 | 32584290 | Human | | name |
| 405748093 | CV3332045 | single nucleotide variant | NM_018393.4(TCP11L1):c.26A>G (p.Asn9Ser) | not specified [RCV004466676] | uncertain significance | 11 | 33043799 | 33043799 | Human | | name |
| 597772912 | CV3615944 | single nucleotide variant | NM_001370687.1(TCP11):c.8A>G (p.Asp3Gly) | not specified [RCV004871948] | uncertain significance | 6 | 35140863 | 35140863 | Human | | name |
| 598163805 | CV3923751 | single nucleotide variant | NM_144659.7(TCP10L):c.83T>C (p.Met28Thr) | not specified [RCV005283184] | uncertain significance | 21 | 32584222 | 32584222 | Human | | name |
| 156074935 | CV2281479 | single nucleotide variant | NM_144659.7(TCP10L):c.169C>T (p.Leu57Phe) | not specified [RCV004153800] | uncertain significance | 21 | 32582391 | 32582391 | Human | | name |
| 156182063 | CV2288222 | single nucleotide variant | NM_144659.7(TCP10L):c.112C>G (p.Leu38Val) | not specified [RCV004149733] | uncertain significance | 21 | 32584193 | 32584193 | Human | | name |
| 155906551 | CV2357343 | single nucleotide variant | NM_018393.4(TCP11L1):c.44A>C (p.Lys15Thr) | not specified [RCV004200232] | uncertain significance | 11 | 33043817 | 33043817 | Human | | name |
| 329387868 | CV2440186 | single nucleotide variant | NM_144659.7(TCP10L):c.116C>T (p.Thr39Met) | not specified [RCV004260638] | uncertain significance | 21 | 32584189 | 32584189 | Human | | name |
| 401730187 | CV2700486 | single nucleotide variant | NM_144659.7(TCP10L):c.220A>G (p.Lys74Glu) | not specified [RCV004311118] | uncertain significance | 21 | 32582340 | 32582340 | Human | | name |
| 405748175 | CV3328116 | single nucleotide variant | NM_152772.3(TCP11L2):c.86C>T (p.Ser29Leu) | not specified [RCV004466689] | uncertain significance | 12 | 106311161 | 106311161 | Human | | name |
| 405747986 | CV3332031 | single nucleotide variant | NM_144659.7(TCP10L):c.246G>C (p.Leu82Phe) | not specified [RCV004466662] | uncertain significance | 21 | 32582314 | 32582314 | Human | | name |
| 407487720 | CV3485949 | single nucleotide variant | NM_144659.7(TCP10L):c.227G>A (p.Arg76Gln) | not specified [RCV004676611] | uncertain significance | 21 | 32582333 | 32582333 | Human | | name |
| 596946017 | CV3548176 | single nucleotide variant | NM_152772.3(TCP11L2):c.861C>T (p.Ala287=) | not provided [RCV004809507] | likely benign | 12 | 106335727 | 106335727 | Human | | name |
| 597772888 | CV3615939 | single nucleotide variant | NM_144659.7(TCP10L):c.236T>C (p.Ile79Thr) | not specified [RCV004871943] | uncertain significance | 21 | 32582324 | 32582324 | Human | | name |
| 597772935 | CV3615949 | single nucleotide variant | NM_018393.4(TCP11L1):c.74T>C (p.Leu25Pro) | not specified [RCV004871953] | uncertain significance | 11 | 33043847 | 33043847 | Human | | name |
| 597772965 | CV3615955 | single nucleotide variant | NM_152772.3(TCP11L2):c.64C>T (p.Arg22Trp) | not specified [RCV004871959] | uncertain significance | 12 | 106311139 | 106311139 | Human | | name |
| 598210154 | CV3923750 | single nucleotide variant | NM_144659.7(TCP10L):c.229A>T (p.Ser77Cys) | not specified [RCV005291803] | uncertain significance | 21 | 32582331 | 32582331 | Human | | name |
| 598210235 | CV3923763 | single nucleotide variant | NM_018393.4(TCP11L1):c.53C>G (p.Ser18Cys) | not specified [RCV005291814] | uncertain significance | 11 | 33043826 | 33043826 | Human | | name |
| 15134478 | CV742585 | duplication | NM_144659.7(TCP10L):c.641dup (p.Val215fs) | not provided [RCV000898295] | benign | 21 | 32576780 | 32576781 | Human | | name |
| 156298142 | CV2247012 | single nucleotide variant | NM_152772.3(TCP11L2):c.161C>T (p.Thr54Ile) | not specified [RCV004114577] | uncertain significance | 12 | 106314361 | 106314361 | Human | | name |
| 156247654 | CV2263900 | single nucleotide variant | NM_018393.4(TCP11L1):c.158C>T (p.Pro53Leu) | not specified [RCV004137948] | uncertain significance | 11 | 33043931 | 33043931 | Human | | name |
| 156022898 | CV2273705 | single nucleotide variant | NM_018393.4(TCP11L1):c.232C>G (p.Leu78Val) | not specified [RCV004132357] | uncertain significance | 11 | 33054661 | 33054661 | Human | | name |
| 156267053 | CV2305612 | single nucleotide variant | NM_001370687.1(TCP11):c.53G>A (p.Gly18Asp) | not specified [RCV004165627] | uncertain significance | 6 | 35140818 | 35140818 | Human | | name |
| 155967518 | CV2312733 | single nucleotide variant | NM_018393.4(TCP11L1):c.118A>G (p.Ile40Val) | not specified [RCV004169455] | uncertain significance | 11 | 33043891 | 33043891 | Human | | name |
| 329373480 | CV2434266 | single nucleotide variant | NM_144659.7(TCP10L):c.580C>T (p.Arg194Cys) | not specified [RCV004251941] | uncertain significance | 21 | 32576842 | 32576842 | Human | | name |
| 329360753 | CV2439669 | single nucleotide variant | NM_144659.7(TCP10L):c.425A>T (p.Tyr142Phe) | not specified [RCV004255684] | uncertain significance | 21 | 32578767 | 32578767 | Human | | name |
| 401726518 | CV2674167 | single nucleotide variant | NM_018393.4(TCP11L1):c.217G>A (p.Val73Ile) | not specified [RCV004295568] | uncertain significance | 11 | 33054646 | 33054646 | Human | | name |
| 401756522 | CV2687190 | single nucleotide variant | NM_001370687.1(TCP11):c.82C>T (p.Pro28Ser) | not specified [RCV004298138] | uncertain significance | 6 | 35140789 | 35140789 | Human | | name |
| 405748010 | CV3332034 | single nucleotide variant | NM_144659.7(TCP10L):c.635G>C (p.Arg212Pro) | not specified [RCV004466665] | uncertain significance | 21 | 32576787 | 32576787 | Human | | name |
| 405748087 | CV3332044 | single nucleotide variant | NM_018393.4(TCP11L1):c.226A>G (p.Met76Val) | not specified [RCV004466675] | uncertain significance | 11 | 33054655 | 33054655 | Human | | name |
| 407487482 | CV3485950 | single nucleotide variant | NM_144659.7(TCP10L):c.331C>G (p.Pro111Ala) | not specified [RCV004675668] | uncertain significance | 21 | 32582229 | 32582229 | Human | | name |
| 597772879 | CV3615937 | single nucleotide variant | NM_144659.7(TCP10L):c.370C>T (p.Pro124Ser) | not specified [RCV004871941] | uncertain significance | 21 | 32578822 | 32578822 | Human | | name |
| 597772883 | CV3615938 | single nucleotide variant | NM_144659.7(TCP10L):c.338C>T (p.Ala113Val) | not specified [RCV004871942] | uncertain significance | 21 | 32582222 | 32582222 | Human | | name |
| 597772939 | CV3615950 | single nucleotide variant | NM_018393.4(TCP11L1):c.166A>C (p.Ser56Arg) | not specified [RCV004871954] | uncertain significance | 11 | 33054595 | 33054595 | Human | | name |
| 598210144 | CV3923749 | single nucleotide variant | NM_144659.7(TCP10L):c.640G>A (p.Gly214Ser) | not specified [RCV005291802] | uncertain significance | 21 | 32576782 | 32576782 | Human | | name |
| 598210229 | CV3923762 | single nucleotide variant | NM_018393.4(TCP11L1):c.287C>A (p.Pro96Gln) | not specified [RCV005291813] | uncertain significance | 11 | 33054716 | 33054716 | Human | | name |
| 8632028 | CV87234 | single nucleotide variant | NM_001093728.2(TCP11):c.933C>T (p.Asn311=) | Malignant melanoma [RCV000067325] | not provided | 6 | 35120468 | 35120468 | Human | | name |
| 8637490 | CV92716 | single nucleotide variant | NM_144659.5(TCP10L):c.448G>A (p.Ala150Thr) | Malignant melanoma [RCV000072814] | not provided | 21 | 32578744 | 32578744 | Human | | name |
| 41405890 | CV981761 | single nucleotide variant | NM_152772.3(TCP11L2):c.253G>A (p.Glu85Lys) | not provided [RCV001810631] | uncertain significance | 12 | 106314453 | 106314453 | Human | | name |
| 156135876 | CV2196124 | single nucleotide variant | NM_001370687.1(TCP11):c.115C>A (p.Pro39Thr) | not specified [RCV004073486] | uncertain significance | 6 | 35140756 | 35140756 | Human | | name |
| 156082748 | CV2205463 | single nucleotide variant | NM_018393.4(TCP11L1):c.395A>G (p.Lys132Arg) | not specified [RCV004082405] | uncertain significance | 11 | 33057213 | 33057213 | Human | | name |
| 156328128 | CV2220011 | single nucleotide variant | NM_152772.3(TCP11L2):c.983G>C (p.Arg328Pro) | not specified [RCV004095602] | uncertain significance | 12 | 106336054 | 106336054 | Human | | name |
| 156220072 | CV2226079 | single nucleotide variant | NM_018393.4(TCP11L1):c.403G>A (p.Gly135Arg) | not specified [RCV004105225] | uncertain significance | 11 | 33057221 | 33057221 | Human | | name |
| 156167858 | CV2237267 | single nucleotide variant | NM_152772.3(TCP11L2):c.940C>G (p.Gln314Glu) | not specified [RCV004114993] | uncertain significance | 12 | 106335806 | 106335806 | Human | | name |
| 155921304 | CV2240506 | single nucleotide variant | NM_152772.3(TCP11L2):c.390C>G (p.Ile130Met) | not specified [RCV004119171] | uncertain significance | 12 | 106318440 | 106318440 | Human | | name |
| 156336941 | CV2270982 | single nucleotide variant | NM_018393.4(TCP11L1):c.518C>T (p.Ala173Val) | not specified [RCV004132009] | uncertain significance | 11 | 33058019 | 33058019 | Human | | name |
| 155958499 | CV2282208 | single nucleotide variant | NM_152772.3(TCP11L2):c.366C>A (p.Asp122Glu) | not specified [RCV004132790] | likely benign | 12 | 106318416 | 106318416 | Human | | name |
| 155960607 | CV2314046 | single nucleotide variant | NM_001370687.1(TCP11):c.145A>T (p.Thr49Ser) | not specified [RCV004164327] | uncertain significance | 6 | 35136198 | 35136198 | Human | | name |
| 156394876 | CV2328261 | single nucleotide variant | NM_152772.3(TCP11L2):c.934G>C (p.Asp312His) | not specified [RCV004173345] | uncertain significance | 12 | 106335800 | 106335800 | Human | | name |
| 156051501 | CV2328957 | single nucleotide variant | NM_018393.4(TCP11L1):c.350G>A (p.Ser117Asn) | not specified [RCV004180254] | uncertain significance | 11 | 33057168 | 33057168 | Human | | name |
| 156166083 | CV2345141 | single nucleotide variant | NM_152772.3(TCP11L2):c.704C>T (p.Pro235Leu) | not specified [RCV004195883] | uncertain significance | 12 | 106323578 | 106323578 | Human | | name |
| 156237506 | CV2356188 | single nucleotide variant | NM_152772.3(TCP11L2):c.523A>G (p.Ile175Val) | not specified [RCV004206008] | uncertain significance | 12 | 106321594 | 106321594 | Human | | name |
| 329363821 | CV2442530 | single nucleotide variant | NM_152772.3(TCP11L2):c.574C>G (p.Pro192Ala) | not specified [RCV004266760] | uncertain significance | 12 | 106321645 | 106321645 | Human | | name |
| 329391876 | CV2445091 | single nucleotide variant | NM_152772.3(TCP11L2):c.388A>G (p.Ile130Val) | not specified [RCV004261695] | uncertain significance | 12 | 106318438 | 106318438 | Human | | name |
| 329353300 | CV2469121 | single nucleotide variant | NM_152772.3(TCP11L2):c.329C>A (p.Ala110Asp) | not specified [RCV004274351] | uncertain significance | 12 | 106318379 | 106318379 | Human | | name |
| 401721496 | CV2683526 | single nucleotide variant | NM_001370687.1(TCP11):c.118C>A (p.Pro40Thr) | not specified [RCV004282460] | uncertain significance | 6 | 35140753 | 35140753 | Human | | name |
| 401727208 | CV2684514 | single nucleotide variant | NM_152772.3(TCP11L2):c.788C>G (p.Thr263Ser) | not provided [RCV004696415]|not specified [RCV004291584] | uncertain significance | 12 | 106335654 | 106335654 | Human | | name |
| 401731222 | CV2693677 | single nucleotide variant | NM_018393.4(TCP11L1):c.563G>A (p.Gly188Glu) | not specified [RCV004298011] | uncertain significance | 11 | 33058064 | 33058064 | Human | | name |
| 401737824 | CV2703661 | single nucleotide variant | NM_018393.4(TCP11L1):c.645T>G (p.Ile215Met) | not specified [RCV004315916] | uncertain significance | 11 | 33058965 | 33058965 | Human | | name |
| 401746527 | CV2731841 | single nucleotide variant | NM_152772.3(TCP11L2):c.968T>C (p.Met323Thr) | not specified [RCV004333093] | uncertain significance | 12 | 106336039 | 106336039 | Human | | name |
| 401877474 | CV2761144 | single nucleotide variant | NM_001370687.1(TCP11):c.245G>A (p.Gly82Asp) | not specified [RCV004341032] | uncertain significance | 6 | 35129174 | 35129174 | Human | | name |
| 401890502 | CV2778805 | single nucleotide variant | NM_152772.3(TCP11L2):c.446A>G (p.Asn149Ser) | not specified [RCV004346704] | uncertain significance | 12 | 106321517 | 106321517 | Human | | name |
| 401918065 | CV2795507 | single nucleotide variant | NM_018393.4(TCP11L1):c.391A>G (p.Ile131Val) | Exstrophy-epispadias complex [RCV003389431] | uncertain significance | 11 | 33057209 | 33057209 | Human | 1 | name |
| 405748101 | CV3328104 | single nucleotide variant | NM_018393.4(TCP11L1):c.322G>A (p.Val108Ile) | not specified [RCV004466677] | uncertain significance | 11 | 33057140 | 33057140 | Human | | name |
| 405748106 | CV3328105 | single nucleotide variant | NM_018393.4(TCP11L1):c.744G>T (p.Lys248Asn) | not specified [RCV004466678] | uncertain significance | 11 | 33059064 | 33059064 | Human | | name |
| 405748113 | CV3328106 | single nucleotide variant | NM_018393.4(TCP11L1):c.892A>G (p.Arg298Gly) | not specified [RCV004466679] | uncertain significance | 11 | 33061646 | 33061646 | Human | | name |
| 405748140 | CV3328110 | single nucleotide variant | NM_152772.3(TCP11L2):c.305G>A (p.Arg102Gln) | not specified [RCV004466683] | uncertain significance | 12 | 106318355 | 106318355 | Human | | name |
| 405748151 | CV3328112 | single nucleotide variant | NM_152772.3(TCP11L2):c.620T>A (p.Ile207Asn) | not specified [RCV004466685] | uncertain significance | 12 | 106321691 | 106321691 | Human | | name |
| 405748157 | CV3328113 | single nucleotide variant | NM_152772.3(TCP11L2):c.640A>G (p.Ile214Val) | not specified [RCV004466686] | uncertain significance | 12 | 106323514 | 106323514 | Human | | name |
| 405748162 | CV3328114 | single nucleotide variant | NM_152772.3(TCP11L2):c.680A>G (p.Asn227Ser) | not specified [RCV004466687] | uncertain significance | 12 | 106323554 | 106323554 | Human | | name |
| 405748167 | CV3328115 | single nucleotide variant | NM_152772.3(TCP11L2):c.715C>T (p.Arg239Cys) | not specified [RCV004466688] | uncertain significance | 12 | 106323589 | 106323589 | Human | | name |
| 405748180 | CV3328117 | single nucleotide variant | NM_152772.3(TCP11L2):c.941A>G (p.Gln314Arg) | not specified [RCV004466690] | uncertain significance | 12 | 106335807 | 106335807 | Human | | name |
| 405748026 | CV3332036 | single nucleotide variant | NM_001370687.1(TCP11):c.263T>C (p.Val88Ala) | not specified [RCV004466667] | uncertain significance | 6 | 35129156 | 35129156 | Human | | name |
| 407517601 | CV3485960 | single nucleotide variant | NM_018393.4(TCP11L1):c.622A>G (p.Ile208Val) | not specified [RCV004675675] | uncertain significance | 11 | 33058123 | 33058123 | Human | | name |
| 407519630 | CV3485963 | single nucleotide variant | NM_018393.4(TCP11L1):c.391A>T (p.Ile131Phe) | not specified [RCV004676617] | uncertain significance | 11 | 33057209 | 33057209 | Human | | name |
| 407517604 | CV3485965 | single nucleotide variant | NM_152772.3(TCP11L2):c.619A>T (p.Ile207Phe) | not specified [RCV004675676] | uncertain significance | 12 | 106321690 | 106321690 | Human | | name |
| 407517611 | CV3485967 | single nucleotide variant | NM_152772.3(TCP11L2):c.302G>A (p.Gly101Asp) | not specified [RCV004675678] | uncertain significance | 12 | 106318352 | 106318352 | Human | | name |
| 407517617 | CV3485969 | single nucleotide variant | NM_152772.3(TCP11L2):c.400G>A (p.Glu134Lys) | not specified [RCV004675680] | uncertain significance | 12 | 106318450 | 106318450 | Human | | name |
| 407519635 | CV3485971 | single nucleotide variant | NM_152772.3(TCP11L2):c.421C>G (p.Leu141Val) | not specified [RCV004676619] | uncertain significance | 12 | 106321492 | 106321492 | Human | | name |
| 597772893 | CV3615940 | single nucleotide variant | NM_001370687.1(TCP11):c.170A>G (p.Lys57Arg) | not specified [RCV004871944] | uncertain significance | 6 | 35136173 | 35136173 | Human | | name |
| 597772898 | CV3615941 | single nucleotide variant | NM_001370687.1(TCP11):c.104G>A (p.Gly35Asp) | not specified [RCV004871945] | uncertain significance | 6 | 35140767 | 35140767 | Human | | name |
| 597772927 | CV3615947 | single nucleotide variant | NM_018393.4(TCP11L1):c.790G>A (p.Val264Ile) | not specified [RCV004871951] | uncertain significance | 11 | 33061544 | 33061544 | Human | | name |
| 597772955 | CV3615953 | single nucleotide variant | NM_152772.3(TCP11L2):c.862G>A (p.Glu288Lys) | not specified [RCV004871957] | uncertain significance | 12 | 106335728 | 106335728 | Human | | name |
| 597772959 | CV3615954 | single nucleotide variant | NM_152772.3(TCP11L2):c.884T>C (p.Leu295Pro) | not specified [RCV004871958] | uncertain significance | 12 | 106335750 | 106335750 | Human | | name |
| 597772968 | CV3615956 | single nucleotide variant | NM_152772.3(TCP11L2):c.805G>C (p.Glu269Gln) | not specified [RCV004871960] | uncertain significance | 12 | 106335671 | 106335671 | Human | | name |
| 597794913 | CV3615957 | single nucleotide variant | NM_152772.3(TCP11L2):c.370C>T (p.Pro124Ser) | not specified [RCV004878017] | uncertain significance | 12 | 106318420 | 106318420 | Human | | name |
| 597772993 | CV3615962 | single nucleotide variant | NM_152772.3(TCP11L2):c.443G>A (p.Gly148Asp) | not specified [RCV004871965] | uncertain significance | 12 | 106321514 | 106321514 | Human | | name |
| 598210176 | CV3923755 | single nucleotide variant | NM_001370687.1(TCP11):c.152C>T (p.Thr51Ile) | not specified [RCV005291806] | uncertain significance | 6 | 35136191 | 35136191 | Human | | name |
| 598163818 | CV3923764 | single nucleotide variant | NM_018393.4(TCP11L1):c.568C>G (p.Leu190Val) | not specified [RCV005283186] | uncertain significance | 11 | 33058069 | 33058069 | Human | | name |
| 598163824 | CV3923766 | single nucleotide variant | NM_152772.3(TCP11L2):c.340G>A (p.Val114Ile) | not specified [RCV005283187] | uncertain significance | 12 | 106318390 | 106318390 | Human | | name |
| 598210250 | CV3923767 | single nucleotide variant | NM_152772.3(TCP11L2):c.646C>T (p.His216Tyr) | not specified [RCV005291816] | uncertain significance | 12 | 106323520 | 106323520 | Human | | name |
| 8626190 | CV81334 | single nucleotide variant | NM_001093728.2(TCP11):c.1237C>T (p.Leu413=) | Malignant melanoma [RCV000061412] | not provided | 6 | 35119309 | 35119309 | Human | | name |
| 156177200 | CV2220354 | single nucleotide variant | NM_018393.4(TCP11L1):c.1284C>G (p.Ile428Met) | not specified [RCV004095768] | uncertain significance | 11 | 33068816 | 33068816 | Human | | name |
| 155924630 | CV2220355 | single nucleotide variant | NM_018393.4(TCP11L1):c.1285C>A (p.Gln429Lys) | not specified [RCV004095769] | uncertain significance | 11 | 33068817 | 33068817 | Human | | name |
| 155944392 | CV2242031 | single nucleotide variant | NM_001370687.1(TCP11):c.439C>G (p.Gln147Glu) | not specified [RCV004108969] | uncertain significance | 6 | 35122256 | 35122256 | Human | | name |
| 156061251 | CV2263114 | single nucleotide variant | NM_018393.4(TCP11L1):c.1303G>A (p.Asp435Asn) | not specified [RCV004131356] | uncertain significance | 11 | 33068835 | 33068835 | Human | | name |
| 156340974 | CV2268200 | single nucleotide variant | NM_001370687.1(TCP11):c.400A>G (p.Ile134Val) | not specified [RCV004138507] | uncertain significance | 6 | 35122295 | 35122295 | Human | | name |
| 156282936 | CV2288862 | single nucleotide variant | NM_001370687.1(TCP11):c.581G>A (p.Gly194Glu) | not specified [RCV004148058] | uncertain significance | 6 | 35121043 | 35121043 | Human | | name |
| 156079600 | CV2337325 | single nucleotide variant | NM_018393.4(TCP11L1):c.1042G>T (p.Ala348Ser) | not specified [RCV004187778] | uncertain significance | 11 | 33065899 | 33065899 | Human | | name |
| 156277988 | CV2352124 | single nucleotide variant | NM_152772.3(TCP11L2):c.1095C>G (p.Ser365Arg) | not specified [RCV004191215] | uncertain significance | 12 | 106336166 | 106336166 | Human | | name |
| 156104500 | CV2360991 | single nucleotide variant | NM_001370687.1(TCP11):c.590A>C (p.Gln197Pro) | not specified [RCV004216189] | uncertain significance | 6 | 35121034 | 35121034 | Human | | name |
| 156158324 | CV2398021 | single nucleotide variant | NM_001370687.1(TCP11):c.494A>G (p.Asn165Ser) | not specified [RCV004241619] | uncertain significance | 6 | 35122201 | 35122201 | Human | | name |
| 155931266 | CV2399811 | single nucleotide variant | NM_001370687.1(TCP11):c.716G>A (p.Ser239Asn) | not specified [RCV004245613] | uncertain significance | 6 | 35120646 | 35120646 | Human | | name |
| 329387281 | CV2436358 | single nucleotide variant | NM_152772.3(TCP11L2):c.1537G>T (p.Asp513Tyr) | not specified [RCV004251755] | uncertain significance | 12 | 106346507 | 106346507 | Human | | name |
| 329399879 | CV2444325 | single nucleotide variant | NM_001370687.1(TCP11):c.457G>T (p.Ala153Ser) | not specified [RCV004263082] | uncertain significance | 6 | 35122238 | 35122238 | Human | | name |
| 329381649 | CV2467354 | single nucleotide variant | NM_001370687.1(TCP11):c.671A>C (p.Gln224Pro) | not specified [RCV004285143] | uncertain significance | 6 | 35120953 | 35120953 | Human | | name |
| 401721915 | CV2710232 | single nucleotide variant | NM_018393.4(TCP11L1):c.1040G>A (p.Gly347Glu) | not specified [RCV004317130] | uncertain significance | 11 | 33065897 | 33065897 | Human | | name |
| 401783238 | CV2716196 | single nucleotide variant | NM_018393.4(TCP11L1):c.1480T>C (p.Phe494Leu) | not specified [RCV004323426] | uncertain significance | 11 | 33072626 | 33072626 | Human | | name |
| 401751454 | CV2716392 | single nucleotide variant | NM_001370687.1(TCP11):c.854C>T (p.Pro285Leu) | not specified [RCV004325381] | uncertain significance | 6 | 35120508 | 35120508 | Human | | name |
| 401867830 | CV2767093 | single nucleotide variant | NM_018393.4(TCP11L1):c.1358A>G (p.Tyr453Cys) | not specified [RCV004347494] | uncertain significance | 11 | 33072504 | 33072504 | Human | | name |
| 405748120 | CV3328107 | single nucleotide variant | NM_152772.3(TCP11L2):c.1091C>T (p.Ala364Val) | not specified [RCV004466680] | uncertain significance | 12 | 106336162 | 106336162 | Human | | name |
| 405748126 | CV3328108 | single nucleotide variant | NM_152772.3(TCP11L2):c.1241C>T (p.Ala414Val) | not specified [RCV004466681] | uncertain significance | 12 | 106340924 | 106340924 | Human | | name |
| 405748133 | CV3328109 | single nucleotide variant | NM_152772.3(TCP11L2):c.1447A>G (p.Ile483Val) | not specified [RCV004466682] | uncertain significance | 12 | 106346417 | 106346417 | Human | | name |
| 405748036 | CV3332037 | single nucleotide variant | NM_001370687.1(TCP11):c.407T>C (p.Ile136Thr) | not specified [RCV004466668] | uncertain significance | 6 | 35122288 | 35122288 | Human | | name |
| 405748038 | CV3332038 | single nucleotide variant | NM_001370687.1(TCP11):c.496A>G (p.Met166Val) | not specified [RCV004466669] | uncertain significance | 6 | 35122199 | 35122199 | Human | | name |
| 405748063 | CV3332041 | single nucleotide variant | NM_018393.4(TCP11L1):c.1096G>A (p.Asp366Asn) | not specified [RCV004466672] | uncertain significance | 11 | 33065953 | 33065953 | Human | | name |
| 405748070 | CV3332042 | single nucleotide variant | NM_018393.4(TCP11L1):c.1122T>G (p.Ile374Met) | not specified [RCV004466673] | uncertain significance | 11 | 33065979 | 33065979 | Human | | name |
| 405748080 | CV3332043 | single nucleotide variant | NM_018393.4(TCP11L1):c.1198G>A (p.Val400Met) | not specified [RCV004466674] | uncertain significance | 11 | 33068730 | 33068730 | Human | | name |
| 407487493 | CV3485952 | single nucleotide variant | NM_001370687.1(TCP11):c.452A>C (p.His151Pro) | not specified [RCV004675670] | uncertain significance | 6 | 35122243 | 35122243 | Human | | name |
| 407487497 | CV3485953 | single nucleotide variant | NM_001370687.1(TCP11):c.383G>T (p.Arg128Leu) | not specified [RCV004675671] | uncertain significance | 6 | 35122312 | 35122312 | Human | | name |
| 407487725 | CV3485954 | single nucleotide variant | NM_001370687.1(TCP11):c.953C>A (p.Thr318Asn) | not specified [RCV004676612] | uncertain significance | 6 | 35120321 | 35120321 | Human | | name |
| 407487502 | CV3485955 | single nucleotide variant | NM_001370687.1(TCP11):c.836C>A (p.Ala279Glu) | not specified [RCV004675672] | uncertain significance | 6 | 35120526 | 35120526 | Human | | name |
| 407517598 | CV3485959 | single nucleotide variant | NM_018393.4(TCP11L1):c.1073C>T (p.Ala358Val) | not specified [RCV004675674] | uncertain significance | 11 | 33065930 | 33065930 | Human | | name |
| 407519624 | CV3485961 | single nucleotide variant | NM_018393.4(TCP11L1):c.1370G>A (p.Gly457Asp) | not specified [RCV004676615] | uncertain significance | 11 | 33072516 | 33072516 | Human | | name |
| 407519627 | CV3485962 | single nucleotide variant | NM_018393.4(TCP11L1):c.1510A>G (p.Lys504Glu) | not specified [RCV004676616] | uncertain significance | 11 | 33072656 | 33072656 | Human | | name |
| 407519633 | CV3485964 | single nucleotide variant | NM_018393.4(TCP11L1):c.1001A>G (p.His334Arg) | not specified [RCV004676618] | uncertain significance | 11 | 33065858 | 33065858 | Human | | name |
| 407517615 | CV3485968 | single nucleotide variant | NM_152772.3(TCP11L2):c.1276A>G (p.Ser426Gly) | not specified [RCV004675679] | uncertain significance | 12 | 106340959 | 106340959 | Human | | name |
| 407517622 | CV3485970 | single nucleotide variant | NM_152772.3(TCP11L2):c.1217A>G (p.Glu406Gly) | not specified [RCV004675681] | uncertain significance | 12 | 106340900 | 106340900 | Human | | name |
| 407519637 | CV3485972 | single nucleotide variant | NM_152772.3(TCP11L2):c.1060G>A (p.Gly354Ser) | not specified [RCV004676620] | uncertain significance | 12 | 106336131 | 106336131 | Human | | name |
| 597772907 | CV3615943 | single nucleotide variant | NM_001370687.1(TCP11):c.736A>C (p.Lys246Gln) | not specified [RCV004871947] | uncertain significance | 6 | 35120626 | 35120626 | Human | | name |
| 597772917 | CV3615945 | single nucleotide variant | NM_001370687.1(TCP11):c.572T>C (p.Leu191Pro) | not specified [RCV004871949] | uncertain significance | 6 | 35122123 | 35122123 | Human | | name |
| 597772922 | CV3615946 | single nucleotide variant | NM_001370687.1(TCP11):c.908A>G (p.Asp303Gly) | not specified [RCV004871950] | uncertain significance | 6 | 35120454 | 35120454 | Human | | name |
| 597772932 | CV3615948 | single nucleotide variant | NM_018393.4(TCP11L1):c.1229T>G (p.Leu410Arg) | not specified [RCV004871952] | uncertain significance | 11 | 33068761 | 33068761 | Human | | name |
| 597772944 | CV3615951 | single nucleotide variant | NM_018393.4(TCP11L1):c.1151T>G (p.Leu384Arg) | not specified [RCV004871955] | uncertain significance | 11 | 33066008 | 33066008 | Human | | name |
| 597772972 | CV3615958 | single nucleotide variant | NM_152772.3(TCP11L2):c.1013A>C (p.Gln338Pro) | not specified [RCV004871961] | uncertain significance | 12 | 106336084 | 106336084 | Human | | name |
| 597772978 | CV3615959 | single nucleotide variant | NM_152772.3(TCP11L2):c.1386G>C (p.Met462Ile) | not specified [RCV004871962] | uncertain significance | 12 | 106346356 | 106346356 | Human | | name |
| 597772982 | CV3615960 | single nucleotide variant | NM_152772.3(TCP11L2):c.1472A>G (p.Tyr491Cys) | not specified [RCV004871963] | uncertain significance | 12 | 106346442 | 106346442 | Human | | name |
| 597772987 | CV3615961 | single nucleotide variant | NM_152772.3(TCP11L2):c.1297C>G (p.Pro433Ala) | not specified [RCV004871964] | uncertain significance | 12 | 106340980 | 106340980 | Human | | name |
| 597773003 | CV3615964 | single nucleotide variant | NM_152772.3(TCP11L2):c.1391G>A (p.Gly464Glu) | not specified [RCV004871967] | uncertain significance | 12 | 106346361 | 106346361 | Human | | name |
| 598210161 | CV3923752 | single nucleotide variant | NM_001370687.1(TCP11):c.697C>G (p.Leu233Val) | not specified [RCV005291804] | uncertain significance | 6 | 35120927 | 35120927 | Human | | name |
| 598163812 | CV3923753 | single nucleotide variant | NM_001370687.1(TCP11):c.483G>T (p.Lys161Asn) | not specified [RCV005283185] | uncertain significance | 6 | 35122212 | 35122212 | Human | | name |
| 598210168 | CV3923754 | single nucleotide variant | NM_001370687.1(TCP11):c.481A>G (p.Lys161Glu) | not specified [RCV005291805] | uncertain significance | 6 | 35122214 | 35122214 | Human | | name |
| 598210183 | CV3923756 | single nucleotide variant | NM_001370687.1(TCP11):c.551A>G (p.Asn184Ser) | not specified [RCV005291807] | uncertain significance | 6 | 35122144 | 35122144 | Human | | name |
| 598210190 | CV3923757 | single nucleotide variant | NM_001370687.1(TCP11):c.771G>A (p.Met257Ile) | not specified [RCV005291808] | uncertain significance | 6 | 35120591 | 35120591 | Human | | name |
| 598210200 | CV3923758 | single nucleotide variant | NM_001370687.1(TCP11):c.383G>A (p.Arg128His) | not specified [RCV005291809] | uncertain significance | 6 | 35122312 | 35122312 | Human | | name |
| 598210221 | CV3923761 | single nucleotide variant | NM_001370687.1(TCP11):c.831T>A (p.Asn277Lys) | not specified [RCV005291812] | uncertain significance | 6 | 35120531 | 35120531 | Human | | name |
| 598210243 | CV3923765 | single nucleotide variant | NM_018393.4(TCP11L1):c.1472A>G (p.Lys491Arg) | not specified [RCV005291815] | uncertain significance | 11 | 33072618 | 33072618 | Human | | name |
| 155923481 | CV2251970 | single nucleotide variant | NM_001370687.1(TCP11):c.1282C>G (p.Gln428Glu) | not specified [RCV004121722] | uncertain significance | 6 | 35118499 | 35118499 | Human | | name |
| 329368564 | CV2453259 | single nucleotide variant | NM_001370687.1(TCP11):c.1216G>A (p.Ala406Thr) | not specified [RCV004266900] | uncertain significance | 6 | 35119291 | 35119291 | Human | | name |
| 401854431 | CV2774419 | single nucleotide variant | NM_001370687.1(TCP11):c.1033G>A (p.Gly345Ser) | not specified [RCV004347758] | uncertain significance | 6 | 35120241 | 35120241 | Human | | name |
| 405748020 | CV3332035 | single nucleotide variant | NM_001370687.1(TCP11):c.1217C>T (p.Ala406Val) | not specified [RCV004466666] | uncertain significance | 6 | 35119290 | 35119290 | Human | | name |
| 407487730 | CV3485956 | single nucleotide variant | NM_001370687.1(TCP11):c.1462A>T (p.Thr488Ser) | not specified [RCV004676613] | uncertain significance | 6 | 35118319 | 35118319 | Human | | name |
| 407487509 | CV3485957 | single nucleotide variant | NM_001370687.1(TCP11):c.1330C>T (p.Arg444Trp) | not specified [RCV004675673] | uncertain significance | 6 | 35118451 | 35118451 | Human | | name |
| 407487734 | CV3485958 | single nucleotide variant | NM_001370687.1(TCP11):c.1091C>G (p.Ser364Cys) | not specified [RCV004676614] | uncertain significance | 6 | 35120183 | 35120183 | Human | | name |
| 597772902 | CV3615942 | single nucleotide variant | NM_001370687.1(TCP11):c.1447A>G (p.Thr483Ala) | not specified [RCV004871946] | uncertain significance | 6 | 35118334 | 35118334 | Human | | name |
| 598210215 | CV3923760 | single nucleotide variant | NM_001370687.1(TCP11):c.1310G>T (p.Cys437Phe) | not specified [RCV005291811] | uncertain significance | 6 | 35118471 | 35118471 | Human | | name |
| 8626191 | CV81335 | single nucleotide variant | NM_001093728.2(TCP11):c.1235C>T (p.Ala412Val) | Malignant melanoma [RCV000061413] | not provided | 6 | 35119311 | 35119311 | Human | | name |
| 8634020 | CV89238 | single nucleotide variant | NM_001145541.1(TCP11L1):c.265C>T (p.Gln89Ter) | Malignant melanoma [RCV000069335] | not provided | 11 | 33054694 | 33054694 | Human | | name |