ClinVar Miner

List of variants reported as likely benign for Familial melanoma

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 552
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HGVS dbSNP gnomAD frequency
NM_000077.5(CDKN2A):c.298G>T (p.Ala100Ser) rs200863613 0.00038
NM_000075.4(CDK4):c.764G>A (p.Arg255His) rs144657355 0.00037
NM_000075.4(CDK4):c.625C>T (p.Arg209Cys) rs140644696 0.00029
NM_000077.5(CDKN2A):c.-14C>T rs764244718 0.00029
NM_000077.5(CDKN2A):c.318G>A (p.Val106=) rs199888003 0.00026
NM_058195.4(CDKN2A):c.69C>T (p.Phe23=) rs374360796 0.00024
NM_000077.5(CDKN2A):c.384G>A (p.Arg128=) rs199901898 0.00016
NM_005981.5(TSPAN31):c.*2031T>A rs370609910 0.00016
NM_000075.4(CDK4):c.771G>A (p.Val257=) rs377612647 0.00014
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) rs144890720 0.00013
NM_000075.4(CDK4):c.834T>C (p.Phe278=) rs115576923 0.00013
NM_000075.4(CDK4):c.813G>A (p.Leu271=) rs1487727732 0.00011
NM_000077.5(CDKN2A):c.261G>A (p.Arg87=) rs546300971 0.00010
NM_000077.5(CDKN2A):c.69T>G (p.Gly23=) rs766772030 0.00010
NM_000077.5(CDKN2A):c.87G>A (p.Arg29=) rs540871544 0.00009
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu) rs201617914 0.00007
NM_000075.4(CDK4):c.702A>C (p.Pro234=) rs368081942 0.00006
NM_000077.5(CDKN2A):c.197A>G (p.His66Arg) rs756750256 0.00004
NM_000077.5(CDKN2A):c.457+20G>T rs769663648 0.00004
NM_000075.4(CDK4):c.423G>C (p.Leu141=) rs760242081 0.00003
NM_000075.4(CDK4):c.549C>T (p.Pro183=) rs778696237 0.00003
NM_000075.4(CDK4):c.753C>G (p.Pro251=) rs757333818 0.00003
NM_000075.4(CDK4):c.84T>C (p.Ser28=) rs763203404 0.00003
NM_000075.4(CDK4):c.870G>C (p.Leu290=) rs1299338481 0.00003
NM_000077.5(CDKN2A):c.147C>A (p.Ile49=) rs200738474 0.00003
NM_000077.5(CDKN2A):c.151-13T>C rs757122222 0.00003
NM_000077.5(CDKN2A):c.458-17C>T rs777951032 0.00003
NM_058195.4(CDKN2A):c.152G>C (p.Arg51Thr) rs1014358179 0.00003
NM_058195.4(CDKN2A):c.193+16G>A rs752309957 0.00003
NM_000075.4(CDK4):c.178C>T (p.Leu60=) rs1595110993 0.00002
NM_000075.4(CDK4):c.183G>A (p.Arg61=) rs771902016 0.00002
NM_000075.4(CDK4):c.279T>C (p.Phe93=) rs1478574297 0.00002
NM_000075.4(CDK4):c.354+9G>T rs771456729 0.00002
NM_000075.4(CDK4):c.632+14A>G rs542680423 0.00002
NM_000075.4(CDK4):c.763C>T (p.Arg255Cys) rs587778188 0.00002
NM_000075.4(CDK4):c.906G>A (p.Pro302=) rs375309124 0.00002
NM_000075.4(CDK4):c.96G>C (p.Val32=) rs563392051 0.00002
NM_000077.5(CDKN2A):c.150+20C>T rs550846229 0.00002
NM_000077.5(CDKN2A):c.151-18T>C rs779541481 0.00002
NM_000077.5(CDKN2A):c.198C>T (p.His66=) rs374984975 0.00002
NM_000077.5(CDKN2A):c.342C>G (p.Pro114=) rs878853648 0.00002
NM_000077.5(CDKN2A):c.459C>T (p.Asp153=) rs778871932 0.00002
NM_005981.5(TSPAN31):c.*1881A>G rs188641164 0.00002
NM_005981.5(TSPAN31):c.*2157C>T rs565689797 0.00002
NM_058195.4(CDKN2A):c.193+15C>T rs757840893 0.00002
NM_058195.4(CDKN2A):c.84G>C (p.Pro28=) rs751027808 0.00002
NM_058195.4(CDKN2A):c.92C>G (p.Thr31Arg) rs528789830 0.00002
NM_000075.4(CDK4):c.141A>C (p.Gly47=) rs863224320 0.00001
NM_000075.4(CDK4):c.195T>C (p.Ala65=) rs770618992 0.00001
NM_000075.4(CDK4):c.210T>C (p.Asn70=) rs1162061851 0.00001
NM_000075.4(CDK4):c.219-10C>T rs759302811 0.00001
NM_000075.4(CDK4):c.219-5G>C rs1286893141 0.00001
NM_000075.4(CDK4):c.219-7T>C rs543798269 0.00001
NM_000075.4(CDK4):c.222G>A (p.Leu74=) rs565645344 0.00001
NM_000075.4(CDK4):c.228C>T (p.Asp76=) rs772531745 0.00001
NM_000075.4(CDK4):c.252C>T (p.Asp84=) rs780590939 0.00001
NM_000075.4(CDK4):c.288A>G (p.Val96=) rs754092304 0.00001
NM_000075.4(CDK4):c.309T>C (p.Tyr103=) rs554603181 0.00001
NM_000075.4(CDK4):c.348G>A (p.Thr116=) rs761353033 0.00001
NM_000075.4(CDK4):c.354+19C>T rs587780884 0.00001
NM_000075.4(CDK4):c.355-12C>T rs1004281478 0.00001
NM_000075.4(CDK4):c.365G>A (p.Arg122His) rs34386532 0.00001
NM_000075.4(CDK4):c.402T>C (p.Asn134=) rs537039467 0.00001
NM_000075.4(CDK4):c.481C>T (p.Leu161=) rs796860515 0.00001
NM_000075.4(CDK4):c.486C>G (p.Ala162=) rs1595110441 0.00001
NM_000075.4(CDK4):c.501C>T (p.Tyr167=) rs1316207187 0.00001
NM_000075.4(CDK4):c.504G>A (p.Gln168=) rs770086242 0.00001
NM_000075.4(CDK4):c.519C>T (p.Pro173=) rs747084709 0.00001
NM_000075.4(CDK4):c.522+19C>T rs1955228699 0.00001
NM_000075.4(CDK4):c.523-11A>G rs958372242 0.00001
NM_000075.4(CDK4):c.523-16T>C rs368524338 0.00001
NM_000075.4(CDK4):c.523-4T>A rs587780667 0.00001
NM_000075.4(CDK4):c.534C>T (p.Leu178=) rs11547327 0.00001
NM_000075.4(CDK4):c.543A>C (p.Arg181=) rs745772539 0.00001
NM_000075.4(CDK4):c.597T>C (p.Ser199=) rs1260582581 0.00001
NM_000075.4(CDK4):c.60G>A (p.Val20=) rs1595111186 0.00001
NM_000075.4(CDK4):c.632+16A>G rs1240250642 0.00001
NM_000075.4(CDK4):c.632+20T>C rs1027049979 0.00001
NM_000075.4(CDK4):c.632+8A>G rs1269709231 0.00001
NM_000075.4(CDK4):c.632+9C>T rs1192976748 0.00001
NM_000075.4(CDK4):c.645T>C (p.Cys215=) rs751861614 0.00001
NM_000075.4(CDK4):c.654T>C (p.Ser218=) rs766518915 0.00001
NM_000075.4(CDK4):c.660C>T (p.Ala220=) rs773490152 0.00001
NM_000075.4(CDK4):c.663C>T (p.Asp221=) rs1205343806 0.00001
NM_000075.4(CDK4):c.777G>A (p.Ser259=) rs3211622 0.00001
NM_000075.4(CDK4):c.795G>A (p.Glu265=) rs747521511 0.00001
NM_000075.4(CDK4):c.798G>A (p.Glu266=) rs780522588 0.00001
NM_000075.4(CDK4):c.801G>A (p.Ser267=) rs201744062 0.00001
NM_000075.4(CDK4):c.843C>T (p.His281=) rs750061873 0.00001
NM_000075.4(CDK4):c.846G>A (p.Lys282=) rs1248502310 0.00001
NM_000075.4(CDK4):c.864A>T (p.Arg288=) rs1369349270 0.00001
NM_000075.4(CDK4):c.87C>T (p.Gly29=) rs1555201376 0.00001
NM_000075.4(CDK4):c.882T>C (p.Tyr294=) rs1307304019 0.00001
NM_000077.5(CDKN2A):c.12G>A (p.Ala4=) rs1434483085 0.00001
NM_000077.5(CDKN2A):c.144G>A (p.Pro48=) rs876659638 0.00001
NM_000077.5(CDKN2A):c.210C>T (p.Pro70=) rs864622570 0.00001
NM_000077.5(CDKN2A):c.219C>A (p.Ala73=) rs730881679 0.00001
NM_000077.5(CDKN2A):c.258C>T (p.Ala86=) rs1001405220 0.00001
NM_000077.5(CDKN2A):c.270C>T (p.Phe90=) rs746459174 0.00001
NM_000077.5(CDKN2A):c.297G>A (p.Arg99=) rs587778191 0.00001
NM_000077.5(CDKN2A):c.388C>T (p.Leu130=) rs1060501261 0.00001
NM_000077.5(CDKN2A):c.396G>C (p.Ala132=) rs745702441 0.00001
NM_000077.5(CDKN2A):c.39T>G (p.Ala13=) rs786201931 0.00001
NM_000077.5(CDKN2A):c.402G>T (p.Ala134=) rs878853649 0.00001
NM_000077.5(CDKN2A):c.457+10G>A rs1230430074 0.00001
NM_000077.5(CDKN2A):c.458-10C>G rs748219065 0.00001
NM_000077.5(CDKN2A):c.458-9C>T rs1167368771 0.00001
NM_000077.5(CDKN2A):c.468T>C (p.Asp156=) rs749753811 0.00001
NM_000077.5(CDKN2A):c.54G>A (p.Thr18=) rs765702324 0.00001
NM_000077.5(CDKN2A):c.57C>T (p.Ala19=) rs1060504186 0.00001
NM_000077.5(CDKN2A):c.9G>A (p.Pro3=) rs1057523441 0.00001
NM_005981.5(TSPAN31):c.*1331A>G rs750073768 0.00001
NM_005981.5(TSPAN31):c.*2032G>A rs765361338 0.00001
NM_005981.5(TSPAN31):c.*2037dup rs757684130 0.00001
NM_005981.5(TSPAN31):c.*2041G>A rs750471090 0.00001
NM_005981.5(TSPAN31):c.*2153T>C rs1955205252 0.00001
NM_058195.4(CDKN2A):c.135C>G (p.Leu45=) rs766676234 0.00001
NM_058195.4(CDKN2A):c.141G>A (p.Leu47=) rs1234187442 0.00001
NM_058195.4(CDKN2A):c.187A>C (p.Arg63=) rs1190780216 0.00001
NM_058195.4(CDKN2A):c.193+13C>T rs777267719 0.00001
NM_058195.4(CDKN2A):c.193+17A>G rs778691942 0.00001
NM_058195.4(CDKN2A):c.193+7A>G rs770519197 0.00001
NM_058195.4(CDKN2A):c.193+9G>A rs965897956 0.00001
NM_058195.4(CDKN2A):c.36G>T (p.Arg12=) rs1305455942 0.00001
NM_058195.4(CDKN2A):c.42G>A (p.Ala14=) rs1288648134 0.00001
NM_000075.4(CDK4):c.102C>G (p.Leu34=) rs758515796
NM_000075.4(CDK4):c.105G>A (p.Lys35=) rs2140388473
NM_000075.4(CDK4):c.111G>A (p.Val37=) rs1456215691
NM_000075.4(CDK4):c.117C>A (p.Val39=) rs1595111112
NM_000075.4(CDK4):c.117C>T (p.Val39=) rs1595111112
NM_000075.4(CDK4):c.120C>T (p.Pro40=) rs1199672273
NM_000075.4(CDK4):c.126A>C (p.Gly42=)
NM_000075.4(CDK4):c.12T>C (p.Ser4=) rs1595111261
NM_000075.4(CDK4):c.132A>T (p.Gly44=) rs878853621
NM_000075.4(CDK4):c.138A>G (p.Gly46=) rs2140388373
NM_000075.4(CDK4):c.144C>T (p.Gly48=)
NM_000075.4(CDK4):c.147T>C (p.Leu49=) rs1060504383
NM_000075.4(CDK4):c.150C>T (p.Pro50=) rs1595111028
NM_000075.4(CDK4):c.153C>T (p.Ile51=) rs1555201373
NM_000075.4(CDK4):c.15A>G (p.Arg5=)
NM_000075.4(CDK4):c.165T>G (p.Arg55=) rs1595111002
NM_000075.4(CDK4):c.168G>A (p.Glu56=) rs1555201371
NM_000075.4(CDK4):c.177A>G (p.Leu59=)
NM_000075.4(CDK4):c.180G>A (p.Leu60=) rs1555201367
NM_000075.4(CDK4):c.189G>A (p.Leu63=) rs2140388192
NM_000075.4(CDK4):c.192G>A (p.Glu64=) rs587780666
NM_000075.4(CDK4):c.198T>C (p.Phe66=) rs1595110954
NM_000075.4(CDK4):c.201G>A (p.Glu67=)
NM_000075.4(CDK4):c.216C>A (p.Val72=) rs1294424179
NM_000075.4(CDK4):c.218+14G>A rs2140388051
NM_000075.4(CDK4):c.218+14G>C
NM_000075.4(CDK4):c.218+15G>A
NM_000075.4(CDK4):c.218+16A>G rs2140388045
NM_000075.4(CDK4):c.218+18G>A rs1955236343
NM_000075.4(CDK4):c.218+20T>C
NM_000075.4(CDK4):c.218+9G>A
NM_000075.4(CDK4):c.219-11A>G
NM_000075.4(CDK4):c.219-14T>C rs2140387656
NM_000075.4(CDK4):c.219-15dup
NM_000075.4(CDK4):c.219-17G>A rs767249235
NM_000075.4(CDK4):c.219-17G>C rs767249235
NM_000075.4(CDK4):c.219-4T>C rs2140387627
NM_000075.4(CDK4):c.219-5del rs2140387632
NM_000075.4(CDK4):c.219-8C>G
NM_000075.4(CDK4):c.219-9T>C rs2140387639
NM_000075.4(CDK4):c.21G>A (p.Glu7=) rs2140388761
NM_000075.4(CDK4):c.222G>T (p.Leu74=) rs565645344
NM_000075.4(CDK4):c.243C>T (p.Ser81=)
NM_000075.4(CDK4):c.246A>C (p.Arg82=) rs2140387517
NM_000075.4(CDK4):c.249T>G (p.Thr83=)
NM_000075.4(CDK4):c.258G>A (p.Glu86=) rs1247612368
NM_000075.4(CDK4):c.261C>A (p.Ile87=) rs779482890
NM_000075.4(CDK4):c.261C>T (p.Ile87=) rs779482890
NM_000075.4(CDK4):c.264G>A (p.Lys88=) rs2140387452
NM_000075.4(CDK4):c.267A>G (p.Val89=) rs886049715
NM_000075.4(CDK4):c.270C>T (p.Thr90=) rs2140387429
NM_000075.4(CDK4):c.271C>T (p.Leu91=) rs949558438
NM_000075.4(CDK4):c.276G>A (p.Val92=) rs918094121
NM_000075.4(CDK4):c.276G>T (p.Val92=)
NM_000075.4(CDK4):c.27G>A (p.Val9=) rs2140388745
NM_000075.4(CDK4):c.285T>C (p.His95=) rs757492324
NM_000075.4(CDK4):c.297C>T (p.Asp99=) rs1595110736
NM_000075.4(CDK4):c.298C>T (p.Leu100=)
NM_000075.4(CDK4):c.300A>G (p.Leu100=) rs2140387344
NM_000075.4(CDK4):c.306A>C (p.Thr102=) rs201202764
NM_000075.4(CDK4):c.312G>A (p.Leu104=) rs2140387313
NM_000075.4(CDK4):c.324C>T (p.Pro108=)
NM_000075.4(CDK4):c.333C>A (p.Gly111=) rs1595110689
NM_000075.4(CDK4):c.333C>T (p.Gly111=) rs1595110689
NM_000075.4(CDK4):c.339A>T (p.Pro113=) rs2140387235
NM_000075.4(CDK4):c.342C>G (p.Ala114=) rs762471901
NM_000075.4(CDK4):c.342C>T (p.Ala114=) rs762471901
NM_000075.4(CDK4):c.351C>A (p.Ile117=)
NM_000075.4(CDK4):c.354+10G>A rs1955232744
NM_000075.4(CDK4):c.354+11T>G
NM_000075.4(CDK4):c.354+12T>G
NM_000075.4(CDK4):c.354+14G>A
NM_000075.4(CDK4):c.354+15T>C rs2140387135
NM_000075.4(CDK4):c.354+16A>G rs2140387134
NM_000075.4(CDK4):c.354+17G>C
NM_000075.4(CDK4):c.354+18G>A
NM_000075.4(CDK4):c.354+8G>C rs2140387160
NM_000075.4(CDK4):c.354+9G>C rs771456729
NM_000075.4(CDK4):c.355-10T>C rs1595110574
NM_000075.4(CDK4):c.355-13C>G rs2140386844
NM_000075.4(CDK4):c.355-16T>C rs1404144583
NM_000075.4(CDK4):c.355-4C>T rs1406247863
NM_000075.4(CDK4):c.355-7A>C
NM_000075.4(CDK4):c.358C>T (p.Leu120=)
NM_000075.4(CDK4):c.369G>A (p.Gln123=) rs1955231243
NM_000075.4(CDK4):c.372T>C (p.Phe124=) rs748374728
NM_000075.4(CDK4):c.373C>T (p.Leu125=)
NM_000075.4(CDK4):c.375A>G (p.Leu125=) rs2640603
NM_000075.4(CDK4):c.381C>T (p.Gly127=) rs781207390
NM_000075.4(CDK4):c.382C>T (p.Leu128=)
NM_000075.4(CDK4):c.390C>T (p.Phe130=)
NM_000075.4(CDK4):c.399C>T (p.Ala133=) rs2140386689
NM_000075.4(CDK4):c.39T>A (p.Gly13=) rs1595111230
NM_000075.4(CDK4):c.408C>A (p.Ile136=) rs758331285
NM_000075.4(CDK4):c.408C>T (p.Ile136=) rs758331285
NM_000075.4(CDK4):c.420T>C (p.Asp140=) rs863224321
NM_000075.4(CDK4):c.423G>A (p.Leu141=) rs760242081
NM_000075.4(CDK4):c.429A>G (p.Pro143=) rs863224322
NM_000075.4(CDK4):c.42C>T (p.Val14=) rs786203182
NM_000075.4(CDK4):c.435C>T (p.Asn145=)
NM_000075.4(CDK4):c.444G>A (p.Val148=) rs1595110484
NM_000075.4(CDK4):c.444G>T (p.Val148=) rs1595110484
NM_000075.4(CDK4):c.453T>C (p.Gly151=) rs2140386487
NM_000075.4(CDK4):c.462C>G (p.Val154=) rs1190412756
NM_000075.4(CDK4):c.465G>A (p.Lys155=) rs2140386451
NM_000075.4(CDK4):c.471T>C (p.Ala157=) rs2140386433
NM_000075.4(CDK4):c.483G>A (p.Leu161=)
NM_000075.4(CDK4):c.48C>G (p.Ala16=) rs1311074831
NM_000075.4(CDK4):c.48C>T (p.Ala16=)
NM_000075.4(CDK4):c.513T>C (p.Leu171=) rs748319770
NM_000075.4(CDK4):c.51T>C (p.Tyr17=) rs2140388654
NM_000075.4(CDK4):c.522+15G>A
NM_000075.4(CDK4):c.522+16G>A
NM_000075.4(CDK4):c.522+17T>C rs2140386235
NM_000075.4(CDK4):c.522+18A>G rs1555201289
NM_000075.4(CDK4):c.522+20C>T rs2140386226
NM_000075.4(CDK4):c.522+7A>G rs1294665075
NM_000075.4(CDK4):c.522+9A>C rs2140386258
NM_000075.4(CDK4):c.523-10T>A
NM_000075.4(CDK4):c.523-10T>C rs1060504384
NM_000075.4(CDK4):c.523-15T>G
NM_000075.4(CDK4):c.523-17C>T
NM_000075.4(CDK4):c.523-20A>G
NM_000075.4(CDK4):c.523-20A>T rs1595110299
NM_000075.4(CDK4):c.523-7C>T rs2140385923
NM_000075.4(CDK4):c.531A>C (p.Thr177=)
NM_000075.4(CDK4):c.531A>G (p.Thr177=) rs2140385880
NM_000075.4(CDK4):c.534C>G (p.Leu178=) rs11547327
NM_000075.4(CDK4):c.549C>G (p.Pro183=) rs778696237
NM_000075.4(CDK4):c.54G>A (p.Gly18=)
NM_000075.4(CDK4):c.552A>G (p.Glu184=) rs2140385820
NM_000075.4(CDK4):c.561G>T (p.Leu187=) rs864622342
NM_000075.4(CDK4):c.564G>A (p.Gln188=) rs1057521685
NM_000075.4(CDK4):c.567C>T (p.Ser189=) rs144422354
NM_000075.4(CDK4):c.570A>C (p.Thr190=) rs1428628208
NM_000075.4(CDK4):c.573T>C (p.Tyr191=) rs878853623
NM_000075.4(CDK4):c.576A>G (p.Ala192=)
NM_000075.4(CDK4):c.57A>G (p.Thr19=)
NM_000075.4(CDK4):c.588C>T (p.Asp196=) rs2140385708
NM_000075.4(CDK4):c.600T>G (p.Val200=) rs2140385676
NM_000075.4(CDK4):c.603C>G (p.Gly201=) rs2140385667
NM_000075.4(CDK4):c.609C>A (p.Ile203=) rs864622504
NM_000075.4(CDK4):c.612T>C (p.Phe204=) rs1555201266
NM_000075.4(CDK4):c.630A>C (p.Arg210=) rs1012477745
NM_000075.4(CDK4):c.630A>G (p.Arg210=) rs1012477745
NM_000075.4(CDK4):c.632+10C>G rs1367377055
NM_000075.4(CDK4):c.632+11C>A
NM_000075.4(CDK4):c.632+13C>T
NM_000075.4(CDK4):c.632+15T>A
NM_000075.4(CDK4):c.632+15_632+16del rs1955225343
NM_000075.4(CDK4):c.632+19C>G rs1027122710
NM_000075.4(CDK4):c.632+19C>T
NM_000075.4(CDK4):c.632+20T>A
NM_000075.4(CDK4):c.632+5dup rs1555201260
NM_000075.4(CDK4):c.632+7G>A rs1955225535
NM_000075.4(CDK4):c.639C>T (p.Leu213=) rs2140383965
NM_000075.4(CDK4):c.648A>C (p.Gly216=) rs2140383924
NM_000075.4(CDK4):c.651C>T (p.Asn217=) rs876659462
NM_000075.4(CDK4):c.657A>G (p.Glu219=) rs763093891
NM_000075.4(CDK4):c.666G>A (p.Gln222=) rs1324120646
NM_000075.4(CDK4):c.667T>C (p.Leu223=) rs2140383860
NM_000075.4(CDK4):c.681T>C (p.Phe227=) rs1193246679
NM_000075.4(CDK4):c.690T>C (p.Ile230=) rs886049714
NM_000075.4(CDK4):c.694C>T (p.Leu232=) rs2140383137
NM_000075.4(CDK4):c.696G>T (p.Leu232=) rs2227953
NM_000075.4(CDK4):c.699T>C (p.Pro233=)
NM_000075.4(CDK4):c.6T>A (p.Ala2=) rs1057523632
NM_000075.4(CDK4):c.705G>A (p.Glu235=) rs374223296
NM_000075.4(CDK4):c.708T>C (p.Asp236=) rs2140383078
NM_000075.4(CDK4):c.711C>T (p.Asp237=) rs2140383063
NM_000075.4(CDK4):c.718C>A (p.Arg240=) rs786203856
NM_000075.4(CDK4):c.720A>G (p.Arg240=) rs1439384781
NM_000075.4(CDK4):c.723T>C (p.Asp241=) rs1595108790
NM_000075.4(CDK4):c.729C>T (p.Ser243=)
NM_000075.4(CDK4):c.730C>T (p.Leu244=) rs2140382971
NM_000075.4(CDK4):c.732G>A (p.Leu244=)
NM_000075.4(CDK4):c.732G>T (p.Leu244=) rs1955201874
NM_000075.4(CDK4):c.738T>C (p.Arg246=) rs2140382933
NM_000075.4(CDK4):c.741A>G (p.Gly247=) rs1595108773
NM_000075.4(CDK4):c.744C>G (p.Ala248=) rs1595108768
NM_000075.4(CDK4):c.744C>T (p.Ala248=) rs1595108768
NM_000075.4(CDK4):c.747T>C (p.Phe249=) rs886049713
NM_000075.4(CDK4):c.752C>G (p.Pro251Arg) rs143670820
NM_000075.4(CDK4):c.753C>A (p.Pro251=) rs757333818
NM_000075.4(CDK4):c.753C>T (p.Pro251=) rs757333818
NM_000075.4(CDK4):c.759G>C (p.Gly253=)
NM_000075.4(CDK4):c.762C>T (p.Pro254=) rs753908111
NM_000075.4(CDK4):c.765C>T (p.Arg255=)
NM_000075.4(CDK4):c.768A>C (p.Pro256=)
NM_000075.4(CDK4):c.777G>C (p.Ser259=) rs3211622
NM_000075.4(CDK4):c.780G>A (p.Val260=) rs1955200396
NM_000075.4(CDK4):c.780G>C (p.Val260=)
NM_000075.4(CDK4):c.786T>C (p.Pro262=)
NM_000075.4(CDK4):c.78C>T (p.Pro26=) rs1057523487
NM_000075.4(CDK4):c.801G>C (p.Ser267=) rs201744062
NM_000075.4(CDK4):c.801G>T (p.Ser267=)
NM_000075.4(CDK4):c.804A>C (p.Gly268=) rs2140382663
NM_000075.4(CDK4):c.81C>T (p.His27=)
NM_000075.4(CDK4):c.822A>G (p.Glu274=)
NM_000075.4(CDK4):c.826C>T (p.Leu276=) rs2140381274
NM_000075.4(CDK4):c.837C>T (p.Asn279=)
NM_000075.4(CDK4):c.840A>G (p.Pro280=) rs2140381222
NM_000075.4(CDK4):c.849A>G (p.Arg283=) rs1595107798
NM_000075.4(CDK4):c.855T>G (p.Ser285=)
NM_000075.4(CDK4):c.858C>T (p.Ala286=)
NM_000075.4(CDK4):c.868C>T (p.Leu290=) rs1555201026
NM_000075.4(CDK4):c.870G>A (p.Leu290=)
NM_000075.4(CDK4):c.870G>T (p.Leu290=) rs1299338481
NM_000075.4(CDK4):c.885A>G (p.Leu295=) rs2140381049
NM_000075.4(CDK4):c.906G>C (p.Pro302=) rs375309124
NM_000075.4(CDK4):c.90C>T (p.His30=) rs2140388517
NM_000075.4(CDK4):c.93T>C (p.Phe31=)
NM_000077.5(CDKN2A):c.102G>A (p.Ala34=)
NM_000077.5(CDKN2A):c.102G>C (p.Ala34=)
NM_000077.5(CDKN2A):c.105G>A (p.Gly35=) rs2131112602
NM_000077.5(CDKN2A):c.108G>C (p.Ala36=) rs1587339774
NM_000077.5(CDKN2A):c.111G>A (p.Leu37=) rs1016841954
NM_000077.5(CDKN2A):c.117C>T (p.Asn39=) rs864622439
NM_000077.5(CDKN2A):c.120A>T (p.Ala40=) rs1435003150
NM_000077.5(CDKN2A):c.123G>A (p.Pro41=) rs754366579
NM_000077.5(CDKN2A):c.123G>C (p.Pro41=)
NM_000077.5(CDKN2A):c.126T>C (p.Asn42=) rs1587339638
NM_000077.5(CDKN2A):c.129T>C (p.Ser43=) rs2131112224
NM_000077.5(CDKN2A):c.132C>T (p.Tyr44=) rs1554656253
NM_000077.5(CDKN2A):c.136C>A (p.Arg46=) rs1563892516
NM_000077.5(CDKN2A):c.139A>C (p.Arg47=) rs773755761
NM_000077.5(CDKN2A):c.144G>T (p.Pro48=) rs876659638
NM_000077.5(CDKN2A):c.147C>T (p.Ile49=) rs200738474
NM_000077.5(CDKN2A):c.150+10G>A rs557891718
NM_000077.5(CDKN2A):c.150+10G>T rs557891718
NM_000077.5(CDKN2A):c.150+11G>A rs1587339427
NM_000077.5(CDKN2A):c.150+12G>A rs1057520264
NM_000077.5(CDKN2A):c.150+12G>T rs1057520264
NM_000077.5(CDKN2A):c.150+15T>A
NM_000077.5(CDKN2A):c.150+15T>C
NM_000077.5(CDKN2A):c.150+15T>G rs2131111640
NM_000077.5(CDKN2A):c.150+18A>G rs1251604295
NM_000077.5(CDKN2A):c.150+6dup rs2131111772
NM_000077.5(CDKN2A):c.150+7AG[4] rs2131111719
NM_000077.5(CDKN2A):c.150+8G>A rs1419306566
NM_000077.5(CDKN2A):c.151-11C>T
NM_000077.5(CDKN2A):c.151-12T>C
NM_000077.5(CDKN2A):c.151-14G>C
NM_000077.5(CDKN2A):c.151-18T>A
NM_000077.5(CDKN2A):c.151-19A>C
NM_000077.5(CDKN2A):c.151-7C>G rs1482685317
NM_000077.5(CDKN2A):c.151-7C>T rs1482685317
NM_000077.5(CDKN2A):c.151-9C>G rs1428942269
NM_000077.5(CDKN2A):c.15G>A (p.Ala5=)
NM_000077.5(CDKN2A):c.15G>T (p.Ala5=) rs768278082
NM_000077.5(CDKN2A):c.170C>T (p.Ala57Val) rs372266620
NM_000077.5(CDKN2A):c.172C>A (p.Arg58=) rs121913387
NM_000077.5(CDKN2A):c.18G>A (p.Gly6=)
NM_000077.5(CDKN2A):c.18G>C (p.Gly6=) rs1819965928
NM_000077.5(CDKN2A):c.201C>A (p.Gly67=)
NM_000077.5(CDKN2A):c.213C>T (p.Asn71=) rs2131095688
NM_000077.5(CDKN2A):c.216C>T (p.Cys72=) rs1563889729
NM_000077.5(CDKN2A):c.219C>G (p.Ala73=) rs730881679
NM_000077.5(CDKN2A):c.225C>A (p.Pro75=) rs762397298
NM_000077.5(CDKN2A):c.225C>T (p.Pro75=) rs762397298
NM_000077.5(CDKN2A):c.243C>G (p.Pro81=) rs1060504185
NM_000077.5(CDKN2A):c.258C>A (p.Ala86=) rs1001405220
NM_000077.5(CDKN2A):c.264G>A (p.Glu88=) rs1819706385
NM_000077.5(CDKN2A):c.282G>A (p.Leu94=) rs1064793589
NM_000077.5(CDKN2A):c.297G>T (p.Arg99=) rs587778191
NM_000077.5(CDKN2A):c.30G>A (p.Glu10=)
NM_000077.5(CDKN2A):c.321C>G (p.Arg107=) rs772527888
NM_000077.5(CDKN2A):c.327C>G (p.Ala109=) rs1060504187
NM_000077.5(CDKN2A):c.327C>T (p.Ala109=) rs1060504187
NM_000077.5(CDKN2A):c.360G>A (p.Glu120=) rs757308315
NM_000077.5(CDKN2A):c.363G>A (p.Leu121=) rs2131092992
NM_000077.5(CDKN2A):c.366C>T (p.Gly122=) rs2131092946
NM_000077.5(CDKN2A):c.369T>C (p.His123=) rs6413463
NM_000077.5(CDKN2A):c.36G>C (p.Ser12=) rs1313234793
NM_000077.5(CDKN2A):c.36G>T (p.Ser12=) rs1313234793
NM_000077.5(CDKN2A):c.372C>T (p.Arg124=) rs2131092856
NM_000077.5(CDKN2A):c.387C>T (p.Tyr129=) rs1554653922
NM_000077.5(CDKN2A):c.393C>G (p.Arg131=) rs1476521287
NM_000077.5(CDKN2A):c.393C>T (p.Arg131=) rs1476521287
NM_000077.5(CDKN2A):c.39T>C (p.Ala13=) rs786201931
NM_000077.5(CDKN2A):c.411C>A (p.Thr137=)
NM_000077.5(CDKN2A):c.411C>T (p.Thr137=)
NM_000077.5(CDKN2A):c.412A>C (p.Arg138=) rs145012438
NM_000077.5(CDKN2A):c.423C>T (p.Asn141=) rs1819683853
NM_000077.5(CDKN2A):c.429C>A (p.Ala143=) rs1060504183
NM_000077.5(CDKN2A):c.429_430delinsAT (p.Arg144Cys)
NM_000077.5(CDKN2A):c.42C>T (p.Asp14=)
NM_000077.5(CDKN2A):c.432C>G (p.Arg144=)
NM_000077.5(CDKN2A):c.441C>A (p.Ala147=) rs1057524065
NM_000077.5(CDKN2A):c.444G>C (p.Ala148=) rs768280139
NM_000077.5(CDKN2A):c.450T>C (p.Gly150=) rs762612798
NM_000077.5(CDKN2A):c.457+12T>C rs1563888491
NM_000077.5(CDKN2A):c.457+13G>A
NM_000077.5(CDKN2A):c.457+14A>T
NM_000077.5(CDKN2A):c.457+16C>A rs2131091282
NM_000077.5(CDKN2A):c.457+17del
NM_000077.5(CDKN2A):c.458-10C>T rs748219065
NM_000077.5(CDKN2A):c.458-12T>C rs983505944
NM_000077.5(CDKN2A):c.458-12T>G rs983505944
NM_000077.5(CDKN2A):c.458-15T>A rs772321849
NM_000077.5(CDKN2A):c.458-4G>C rs876660514
NM_000077.5(CDKN2A):c.458-4G>T rs876660514
NM_000077.5(CDKN2A):c.458-5T>C
NM_000077.5(CDKN2A):c.458-8del rs1390306527
NM_000077.5(CDKN2A):c.458-9_458-6dup
NM_000077.5(CDKN2A):c.462C>A (p.Ile154=) rs1554653281
NM_000077.5(CDKN2A):c.462C>T (p.Ile154=) rs1554653281
NM_000077.5(CDKN2A):c.465C>A (p.Pro155=) rs1471079871
NM_000077.5(CDKN2A):c.465C>G (p.Pro155=) rs1471079871
NM_000077.5(CDKN2A):c.465C>T (p.Pro155=) rs1471079871
NM_000077.5(CDKN2A):c.470G>A (p.Ter157=) rs1473161353
NM_000077.5(CDKN2A):c.51C>G (p.Ala17=) rs764362225
NM_000077.5(CDKN2A):c.51C>T (p.Ala17=) rs764362225
NM_000077.5(CDKN2A):c.54G>C (p.Thr18=)
NM_000077.5(CDKN2A):c.54G>T (p.Thr18=) rs765702324
NM_000077.5(CDKN2A):c.57C>G (p.Ala19=) rs1060504186
NM_000077.5(CDKN2A):c.60G>A (p.Ala20=)
NM_000077.5(CDKN2A):c.66G>A (p.Arg22=) rs776810546
NM_000077.5(CDKN2A):c.69T>A (p.Gly23=)
NM_000077.5(CDKN2A):c.6G>A (p.Glu2=) rs777092073
NM_000077.5(CDKN2A):c.72G>T (p.Arg24=) rs1449870708
NM_000077.5(CDKN2A):c.75A>G (p.Val25=) rs980682752
NM_000077.5(CDKN2A):c.81G>A (p.Glu27=) rs1060504184
NM_000077.5(CDKN2A):c.84G>A (p.Val28=) rs1461154048
NM_000077.5(CDKN2A):c.87G>C (p.Arg29=) rs540871544
NM_000077.5(CDKN2A):c.90G>A (p.Ala30=) rs1563892643
NM_000077.5(CDKN2A):c.90G>T (p.Ala30=) rs1563892643
NM_000077.5(CDKN2A):c.91C>T (p.Leu31=) rs1819951961
NM_000077.5(CDKN2A):c.93G>T (p.Leu31=) rs2131112754
NM_000077.5(CDKN2A):c.94C>T (p.Leu32=) rs745827714
NM_000077.5(CDKN2A):c.96G>A (p.Leu32=) rs2131112692
NM_005981.5(TSPAN31):c.*1331A>C
NM_005981.5(TSPAN31):c.*1332G>A rs2140381317
NM_005981.5(TSPAN31):c.*1333G>C
NM_005981.5(TSPAN31):c.*1333_*1334insC
NM_005981.5(TSPAN31):c.*1335G>C
NM_005981.5(TSPAN31):c.*1335G>T rs2140381332
NM_005981.5(TSPAN31):c.*1337G>A
NM_005981.5(TSPAN31):c.*1340G>A
NM_005981.5(TSPAN31):c.*1340G>C
NM_005981.5(TSPAN31):c.*1341C>T
NM_005981.5(TSPAN31):c.*1342A>C rs1955188582
NM_005981.5(TSPAN31):c.*1342A>T
NM_005981.5(TSPAN31):c.*1344del rs1955188619
NM_005981.5(TSPAN31):c.*1874C>T rs2140382516
NM_005981.5(TSPAN31):c.*1875A>C
NM_005981.5(TSPAN31):c.*1876C>A
NM_005981.5(TSPAN31):c.*1876C>T rs2140382521
NM_005981.5(TSPAN31):c.*1879C>G
NM_005981.5(TSPAN31):c.*1884T>A
NM_005981.5(TSPAN31):c.*1885C>T
NM_005981.5(TSPAN31):c.*1886del rs1217545832
NM_005981.5(TSPAN31):c.*2031T>C rs370609910
NM_005981.5(TSPAN31):c.*2032G>C rs765361338
NM_005981.5(TSPAN31):c.*2032G>T
NM_005981.5(TSPAN31):c.*2033G>A
NM_005981.5(TSPAN31):c.*2034G>A rs1955203177
NM_005981.5(TSPAN31):c.*2035G>A rs2140383220
NM_005981.5(TSPAN31):c.*2036G>A rs1565805752
NM_005981.5(TSPAN31):c.*2036del rs2140383210
NM_005981.5(TSPAN31):c.*2038C>T
NM_005981.5(TSPAN31):c.*2039A>G
NM_005981.5(TSPAN31):c.*2040G>T rs2140383245
NM_005981.5(TSPAN31):c.*2146C>G
NM_005981.5(TSPAN31):c.*2148C>T rs2140383715
NM_005981.5(TSPAN31):c.*2149A>C
NM_005981.5(TSPAN31):c.*2149A>G rs2140383719
NM_005981.5(TSPAN31):c.*2151G>A rs1194182388
NM_005981.5(TSPAN31):c.*2152T>C
NM_005981.5(TSPAN31):c.*2154G>T rs1455681193
NM_005981.5(TSPAN31):c.*2155G>A
NM_005981.5(TSPAN31):c.*2156T>A rs1446831422
NM_005981.5(TSPAN31):c.*2156T>G
NM_005981.5(TSPAN31):c.*2156del rs2140383751
NM_005981.5(TSPAN31):c.*2220G>A rs2140384011
NM_005981.5(TSPAN31):c.*2220G>T
NM_005981.5(TSPAN31):c.*2222G>A rs536249985
NM_005981.5(TSPAN31):c.*2222G>T rs536249985
NM_005981.5(TSPAN31):c.*2224G>A
NM_005981.5(TSPAN31):c.*2224G>C rs1555201136
NM_005981.5(TSPAN31):c.*2225A>T
NM_005981.5(TSPAN31):c.*2232A>G rs2140384054
NM_005981.5(TSPAN31):c.*2234A>G
NM_005981.5(TSPAN31):c.*2234A>T
NM_058195.4(CDKN2A):c.108G>A (p.Ala36=) rs2131148456
NM_058195.4(CDKN2A):c.111A>G (p.Pro37=) rs1039977006
NM_058195.4(CDKN2A):c.111A>T (p.Pro37=) rs1039977006
NM_058195.4(CDKN2A):c.117G>C (p.Ala39=) rs2131148386
NM_058195.4(CDKN2A):c.123C>T (p.Ala41=) rs2131148330
NM_058195.4(CDKN2A):c.126T>G (p.Ala42=) rs759238530
NM_058195.4(CDKN2A):c.129G>C (p.Val43=) rs776615460
NM_058195.4(CDKN2A):c.12G>A (p.Arg4=) rs2131149058
NM_058195.4(CDKN2A):c.135C>T (p.Leu45=) rs766676234
NM_058195.4(CDKN2A):c.138G>A (p.Val46=) rs761002695
NM_058195.4(CDKN2A):c.145C>T (p.Leu49=) rs1554659187
NM_058195.4(CDKN2A):c.153G>A (p.Arg51=) rs773369448
NM_058195.4(CDKN2A):c.15C>T (p.Phe5=) rs1587358694
NM_058195.4(CDKN2A):c.168G>A (p.Gly56=) rs2131148111
NM_058195.4(CDKN2A):c.177G>A (p.Pro59=) rs878853643
NM_058195.4(CDKN2A):c.177G>C (p.Pro59=) rs878853643
NM_058195.4(CDKN2A):c.193+10G>C rs2131147888
NM_058195.4(CDKN2A):c.193+10del rs2131147894
NM_058195.4(CDKN2A):c.193+11C>T rs540037788
NM_058195.4(CDKN2A):c.193+17A>C rs778691942
NM_058195.4(CDKN2A):c.193+20A>G rs2131147849
NM_058195.4(CDKN2A):c.193+5_193+16dup rs2131147866
NM_058195.4(CDKN2A):c.193+9G>C rs965897956
NM_058195.4(CDKN2A):c.194-3653G>A rs1800586
NM_058195.4(CDKN2A):c.194-3653G>C rs1800586
NM_058195.4(CDKN2A):c.27C>G (p.Leu9=) rs1221654243
NM_058195.4(CDKN2A):c.30G>A (p.Arg10=) rs876658436
NM_058195.4(CDKN2A):c.30G>T (p.Arg10=) rs876658436
NM_058195.4(CDKN2A):c.39C>G (p.Arg13=) rs747061582
NM_058195.4(CDKN2A):c.42G>C (p.Ala14=) rs1288648134
NM_058195.4(CDKN2A):c.42G>T (p.Ala14=) rs1288648134
NM_058195.4(CDKN2A):c.51G>T (p.Pro17=) rs2131148827
NM_058195.4(CDKN2A):c.54G>A (p.Pro18=) rs1554659233
NM_058195.4(CDKN2A):c.54G>T (p.Pro18=) rs1554659233
NM_058195.4(CDKN2A):c.55C>A (p.Arg19=) rs2131148812
NM_058195.4(CDKN2A):c.72G>A (p.Val24=) rs2131148725
NM_058195.4(CDKN2A):c.72G>C (p.Val24=) rs2131148725
NM_058195.4(CDKN2A):c.75T>C (p.Val25=) rs1057522328
NM_058195.4(CDKN2A):c.78C>T (p.His26=) rs756946306
NM_058195.4(CDKN2A):c.81C>T (p.Ile27=) rs1413839473
NM_058195.4(CDKN2A):c.84G>A (p.Pro28=) rs751027808
NM_058195.4(CDKN2A):c.90C>T (p.Leu30=) rs786201711
NM_058195.4(CDKN2A):c.93G>C (p.Thr31=) rs1330218502

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