ClinVar Miner

List of variants reported as uncertain significance for Familial melanoma by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1006
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HGVS dbSNP gnomAD frequency
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His) rs146179135 0.00022
NM_000077.5(CDKN2A):c.365G>T (p.Gly122Val) rs373291490 0.00016
NM_000075.4(CDK4):c.779T>A (p.Val260Glu) rs200215596 0.00013
NM_000075.4(CDK4):c.752C>A (p.Pro251His) rs143670820 0.00009
NM_000077.5(CDKN2A):c.325G>C (p.Ala109Pro) rs372481694 0.00009
NM_000075.4(CDK4):c.886C>T (p.His296Tyr) rs2227954 0.00008
NM_058195.4(CDKN2A):c.160C>A (p.Arg54Ser) rs896054565 0.00006
NM_058195.4(CDKN2A):c.94G>A (p.Gly32Arg) rs879254043 0.00006
NM_000077.5(CDKN2A):c.160A>C (p.Met54Leu) rs201314211 0.00005
NM_000075.4(CDK4):c.460G>C (p.Val154Leu) rs563692823 0.00004
NM_000075.4(CDK4):c.863G>A (p.Arg288Gln) rs761577371 0.00004
NM_000075.4(CDK4):c.898G>A (p.Gly300Ser) rs879254241 0.00004
NM_000075.4(CDK4):c.905C>T (p.Pro302Leu) rs749477862 0.00004
NM_000075.4(CDK4):c.254G>A (p.Arg85Gln) rs587778184 0.00003
NM_000075.4(CDK4):c.354+3G>C rs746395249 0.00003
NM_000075.4(CDK4):c.409G>A (p.Val137Ile) rs150281463 0.00003
NM_000075.4(CDK4):c.542G>A (p.Arg181Gln) rs772079285 0.00003
NM_000075.4(CDK4):c.736C>T (p.Arg246Cys) rs370258992 0.00003
NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly) rs372670098 0.00003
NM_000077.5(CDKN2A):c.25A>T (p.Met9Leu) rs748866274 0.00003
NM_058195.4(CDKN2A):c.56G>T (p.Arg19Leu) rs748616717 0.00003
NM_058195.4(CDKN2A):c.71T>C (p.Val24Ala) rs749723804 0.00003
NM_000075.4(CDK4):c.364C>T (p.Arg122Cys) rs587778185 0.00002
NM_000075.4(CDK4):c.451G>A (p.Gly151Ser) rs1280774592 0.00002
NM_000075.4(CDK4):c.640T>C (p.Phe214Leu) rs1555201131 0.00002
NM_000075.4(CDK4):c.661G>A (p.Asp221Asn) rs587778187 0.00002
NM_000075.4(CDK4):c.806C>T (p.Ala269Val) rs779161525 0.00002
NM_000075.4(CDK4):c.869T>C (p.Leu290Pro) rs768127244 0.00002
NM_000077.5(CDKN2A):c.122C>A (p.Pro41Gln) rs373407950 0.00002
NM_000077.5(CDKN2A):c.151G>A (p.Val51Ile) rs762630679 0.00002
NM_000077.5(CDKN2A):c.226G>A (p.Ala76Thr) rs774633329 0.00002
NM_000077.5(CDKN2A):c.400G>C (p.Ala134Pro) rs372599739 0.00002
NM_058195.4(CDKN2A):c.167G>A (p.Gly56Glu) rs748327367 0.00002
NM_058195.4(CDKN2A):c.77A>G (p.His26Arg) rs780803896 0.00002
NM_058195.4(CDKN2A):c.97G>A (p.Glu33Lys) rs1287464120 0.00002
NM_000075.4(CDK4):c.109G>A (p.Val37Met) rs1060501930 0.00001
NM_000075.4(CDK4):c.116T>C (p.Val39Ala) rs1955238404 0.00001
NM_000075.4(CDK4):c.14G>A (p.Arg5Gln) rs1031329993 0.00001
NM_000075.4(CDK4):c.155G>A (p.Ser52Asn) rs760719270 0.00001
NM_000075.4(CDK4):c.184C>T (p.Arg62Ter) rs745481376 0.00001
NM_000075.4(CDK4):c.229G>A (p.Val77Ile) rs730881670 0.00001
NM_000075.4(CDK4):c.245G>A (p.Arg82Gln) rs3211612 0.00001
NM_000075.4(CDK4):c.263A>G (p.Lys88Arg) rs1463751654 0.00001
NM_000075.4(CDK4):c.343G>A (p.Glu115Lys) rs772938517 0.00001
NM_000075.4(CDK4):c.345A>C (p.Glu115Asp) rs769378936 0.00001
NM_000075.4(CDK4):c.346A>G (p.Thr116Ala) rs2063052002 0.00001
NM_000075.4(CDK4):c.347C>T (p.Thr116Met) rs1060501931 0.00001
NM_000075.4(CDK4):c.349A>G (p.Ile117Val) rs776343973 0.00001
NM_000075.4(CDK4):c.352A>C (p.Lys118Gln) rs772689692 0.00001
NM_000075.4(CDK4):c.355-3T>C rs771392563 0.00001
NM_000075.4(CDK4):c.355-4C>G rs1406247863 0.00001
NM_000075.4(CDK4):c.364C>G (p.Arg122Gly) rs587778185 0.00001
NM_000075.4(CDK4):c.385G>A (p.Asp129Asn) rs876660606 0.00001
NM_000075.4(CDK4):c.404G>A (p.Cys135Tyr) rs1340574386 0.00001
NM_000075.4(CDK4):c.415C>T (p.Arg139Ter) rs753579957 0.00001
NM_000075.4(CDK4):c.416G>A (p.Arg139Gln) rs763652580 0.00001
NM_000075.4(CDK4):c.421C>G (p.Leu141Val) rs1246306482 0.00001
NM_000075.4(CDK4):c.431A>G (p.Glu144Gly) rs863224603 0.00001
NM_000075.4(CDK4):c.458C>T (p.Thr153Ile) rs1443076952 0.00001
NM_000075.4(CDK4):c.461T>C (p.Val154Ala) rs1555201304 0.00001
NM_000075.4(CDK4):c.491T>C (p.Ile164Thr) rs1222529576 0.00001
NM_000075.4(CDK4):c.520G>A (p.Val174Met) rs780052789 0.00001
NM_000075.4(CDK4):c.523G>A (p.Val175Ile) rs587778186 0.00001
NM_000075.4(CDK4):c.532C>T (p.Leu178Phe) rs1030964946 0.00001
NM_000075.4(CDK4):c.553G>A (p.Val185Ile) rs757302656 0.00001
NM_000075.4(CDK4):c.580C>T (p.Pro194Ser) rs1264069202 0.00001
NM_000075.4(CDK4):c.605G>C (p.Cys202Ser) rs1424791303 0.00001
NM_000075.4(CDK4):c.620T>A (p.Met207Lys) rs1339920302 0.00001
NM_000075.4(CDK4):c.626G>A (p.Arg209His) rs754423955 0.00001
NM_000075.4(CDK4):c.629G>A (p.Arg210Gln) rs373619077 0.00001
NM_000075.4(CDK4):c.632+6G>A rs762362960 0.00001
NM_000075.4(CDK4):c.681T>G (p.Phe227Leu) rs1193246679 0.00001
NM_000075.4(CDK4):c.689T>C (p.Ile230Thr) rs760435132 0.00001
NM_000075.4(CDK4):c.700C>T (p.Pro234Ser) rs1474793589 0.00001
NM_000075.4(CDK4):c.719G>A (p.Arg240Gln) rs531817742 0.00001
NM_000075.4(CDK4):c.737G>A (p.Arg246His) rs372604524 0.00001
NM_000075.4(CDK4):c.778G>T (p.Val260Leu) rs876660340 0.00001
NM_000075.4(CDK4):c.800C>T (p.Ser267Leu) rs1157646541 0.00001
NM_000075.4(CDK4):c.829A>G (p.Thr277Ala) rs767343306 0.00001
NM_000075.4(CDK4):c.838C>T (p.Pro280Ser) rs1299577422 0.00001
NM_000075.4(CDK4):c.841C>G (p.His281Asp) rs876659522 0.00001
NM_000075.4(CDK4):c.841C>T (p.His281Tyr) rs876659522 0.00001
NM_000075.4(CDK4):c.847C>T (p.Arg283Ter) rs1423966179 0.00001
NM_000075.4(CDK4):c.892G>A (p.Asp298Asn) rs1367425262 0.00001
NM_000077.5(CDKN2A):c.103G>A (p.Gly35Arg) rs757066045 0.00001
NM_000077.5(CDKN2A):c.106G>A (p.Ala36Thr) rs777948908 0.00001
NM_000077.5(CDKN2A):c.11C>G (p.Ala4Gly) rs1277299943 0.00001
NM_000077.5(CDKN2A):c.121C>G (p.Pro41Ala) rs765321737 0.00001
NM_000077.5(CDKN2A):c.127A>G (p.Ser43Gly) rs766854048 0.00001
NM_000077.5(CDKN2A):c.14C>A (p.Ala5Glu) rs1554656700 0.00001
NM_000077.5(CDKN2A):c.150+6T>C rs1025333664 0.00001
NM_000077.5(CDKN2A):c.155T>C (p.Met52Thr) rs752573958 0.00001
NM_000077.5(CDKN2A):c.178G>A (p.Ala60Thr) rs769382085 0.00001
NM_000077.5(CDKN2A):c.184C>G (p.Leu62Val) rs1819722375 0.00001
NM_000077.5(CDKN2A):c.200G>A (p.Gly67Asp) rs863224605 0.00001
NM_000077.5(CDKN2A):c.224C>T (p.Pro75Leu) rs772411700 0.00001
NM_000077.5(CDKN2A):c.225C>G (p.Pro75=) rs762397298 0.00001
NM_000077.5(CDKN2A):c.230C>G (p.Thr77Ser) rs1350680332 0.00001
NM_000077.5(CDKN2A):c.241C>T (p.Pro81Ser) rs1334828764 0.00001
NM_000077.5(CDKN2A):c.267C>T (p.Gly89=) rs1404957845 0.00001
NM_000077.5(CDKN2A):c.299C>T (p.Ala100Val) rs1344319395 0.00001
NM_000077.5(CDKN2A):c.2T>A (p.Met1Lys) rs759871071 0.00001
NM_000077.5(CDKN2A):c.300C>T (p.Ala100=) rs876660818 0.00001
NM_000077.5(CDKN2A):c.301G>A (p.Gly101Arg) rs104894094 0.00001
NM_000077.5(CDKN2A):c.307C>T (p.Arg103Trp) rs767642535 0.00001
NM_000077.5(CDKN2A):c.315C>A (p.Asp105Glu) rs763269347 0.00001
NM_000077.5(CDKN2A):c.320G>A (p.Arg107His) rs370823171 0.00001
NM_000077.5(CDKN2A):c.32C>T (p.Pro11Leu) rs1374664673 0.00001
NM_000077.5(CDKN2A):c.335G>T (p.Arg112Leu) rs587782797 0.00001
NM_000077.5(CDKN2A):c.343G>T (p.Val115Leu) rs779913365 0.00001
NM_000077.5(CDKN2A):c.344T>A (p.Val115Glu) rs750655995 0.00001
NM_000077.5(CDKN2A):c.351G>C (p.Leu117=) rs1060504182 0.00001
NM_000077.5(CDKN2A):c.352G>A (p.Ala118Thr) rs1554653960 0.00001
NM_000077.5(CDKN2A):c.360G>T (p.Glu120Asp) rs757308315 0.00001
NM_000077.5(CDKN2A):c.383G>A (p.Arg128Gln) rs971657556 0.00001
NM_000077.5(CDKN2A):c.404G>A (p.Gly135Glu) rs1182554152 0.00001
NM_000077.5(CDKN2A):c.406G>A (p.Gly136Ser) rs777840257 0.00001
NM_000077.5(CDKN2A):c.407G>A (p.Gly136Asp) rs758832729 0.00001
NM_000077.5(CDKN2A):c.407G>C (p.Gly136Ala) rs758832729 0.00001
NM_000077.5(CDKN2A):c.412A>G (p.Arg138Gly) rs145012438 0.00001
NM_000077.5(CDKN2A):c.415G>C (p.Gly139Arg) rs587781733 0.00001
NM_000077.5(CDKN2A):c.416G>A (p.Gly139Asp) rs149937815 0.00001
NM_000077.5(CDKN2A):c.421A>G (p.Asn141Asp) rs1399873046 0.00001
NM_000077.5(CDKN2A):c.425A>G (p.His142Arg) rs759922342 0.00001
NM_000077.5(CDKN2A):c.427G>A (p.Ala143Thr) rs754195015 0.00001
NM_000077.5(CDKN2A):c.437A>T (p.Asp146Val) rs1819681703 0.00001
NM_000077.5(CDKN2A):c.440C>T (p.Ala147Val) rs1060501267 0.00001
NM_000077.5(CDKN2A):c.443C>T (p.Ala148Val) rs876659307 0.00001
NM_000077.5(CDKN2A):c.449G>A (p.Gly150Asp) rs1181255434 0.00001
NM_000077.5(CDKN2A):c.452C>T (p.Pro151Leu) rs1060501275 0.00001
NM_000077.5(CDKN2A):c.4G>C (p.Glu2Gln) rs1060501273 0.00001
NM_000077.5(CDKN2A):c.76G>C (p.Glu26Gln) rs1317637377 0.00001
NM_000077.5(CDKN2A):c.7C>T (p.Pro3Ser) rs947790209 0.00001
NM_000077.5(CDKN2A):c.81G>T (p.Glu27Asp) rs1060504184 0.00001
NM_000077.5(CDKN2A):c.94C>G (p.Leu32Val) rs745827714 0.00001
NM_005981.5(TSPAN31):c.*1888G>A rs1060501928 0.00001
NM_005981.5(TSPAN31):c.*2036G>T rs1565805752 0.00001
NM_058195.4(CDKN2A):c.100T>G (p.Trp34Gly) rs765285880 0.00001
NM_058195.4(CDKN2A):c.115G>A (p.Ala39Thr) rs1064795551 0.00001
NM_058195.4(CDKN2A):c.121G>A (p.Ala41Thr) rs1064793582 0.00001
NM_058195.4(CDKN2A):c.136G>A (p.Val46Met) rs786203467 0.00001
NM_058195.4(CDKN2A):c.13T>A (p.Phe5Ile) rs776987532 0.00001
NM_058195.4(CDKN2A):c.178C>T (p.Leu60Phe) rs769257927 0.00001
NM_058195.4(CDKN2A):c.35G>A (p.Arg12Gln) rs201877069 0.00001
NM_058195.4(CDKN2A):c.39C>T (p.Arg13=) rs747061582 0.00001
NM_058195.4(CDKN2A):c.46G>A (p.Gly16Ser) rs773459232 0.00001
NM_058195.4(CDKN2A):c.47G>A (p.Gly16Asp) rs1444669684 0.00001
NM_058195.4(CDKN2A):c.49C>T (p.Pro17Ser) rs3731190 0.00001
NM_058195.4(CDKN2A):c.62G>A (p.Arg21Lys) rs1057517601 0.00001
NM_058195.4(CDKN2A):c.79A>C (p.Ile27Leu) rs1057517575 0.00001
NM_058195.4(CDKN2A):c.82C>T (p.Pro28Ser) rs1587358521 0.00001
NM_058195.4(CDKN2A):c.85C>T (p.Arg29Trp) rs1316222103 0.00001
NC_000009.11:g.(?_21968218)_(21994340_?)dup
NC_000009.11:g.(?_21968222)_(21994330_?)dup
NC_000009.11:g.(?_21968228)_(21968346_?)dup
NC_000009.11:g.(?_21968228)_(21974826_?)dup
NC_000009.11:g.(?_21968228)_(21974875_?)dup
NC_000009.11:g.(?_21968228)_(22160087_?)dup
NC_000009.11:g.(?_21970891)_(22062134_?)dup
NC_000009.11:g.(?_21970895)_(21994330_?)dup
NC_000009.11:g.(?_21974667)_(21974875_?)dup
NC_000009.11:g.(?_21974667)_(22160087_?)dup
NC_000009.11:g.(?_21994128)_(22160087_?)dup
NC_000009.12:g.(?_21994129)_(21994341_?)dup
NC_000012.11:g.(?_57534470)_(58190366_?)dup
NC_000012.11:g.(?_58140510)_(58145500_?)dup
NC_000012.11:g.(?_58142298)_(58145510_?)dup
NC_000012.11:g.(?_58142308)_(58145500_?)del
NC_000012.11:g.(?_58144419)_(58160824_?)dup
NC_000012.11:g.(?_58144429)_(58145510_?)dup
NC_000012.11:g.(?_58144433)_(58145506_?)dup
NC_000012.11:g.(?_58144696)_(58145500_?)dup
NC_000012.12:g.(?_57748525)_(57751717_?)dup
NC_000012.12:g.(?_57750646)_(57751717_?)dup
NM_000075.4(CDK4):c.104A>G (p.Lys35Arg)
NM_000075.4(CDK4):c.104del (p.Lys35fs) rs2140388479
NM_000075.4(CDK4):c.107G>A (p.Ser36Asn)
NM_000075.4(CDK4):c.107G>C (p.Ser36Thr) rs1955238564
NM_000075.4(CDK4):c.118C>T (p.Pro40Ser)
NM_000075.4(CDK4):c.119C>A (p.Pro40His) rs376139539
NM_000075.4(CDK4):c.119C>T (p.Pro40Leu) rs376139539
NM_000075.4(CDK4):c.11C>A (p.Ser4Tyr) rs1227101024
NM_000075.4(CDK4):c.11C>G (p.Ser4Cys)
NM_000075.4(CDK4):c.11C>T (p.Ser4Phe)
NM_000075.4(CDK4):c.122_133del (p.Asn41_Gly45delinsSer)
NM_000075.4(CDK4):c.126AGG[2] (p.Gly48del) rs770784286
NM_000075.4(CDK4):c.127G>A (p.Gly43Arg)
NM_000075.4(CDK4):c.127G>C (p.Gly43Arg) rs1595111088
NM_000075.4(CDK4):c.128G>A (p.Gly43Glu) rs1955238089
NM_000075.4(CDK4):c.128G>C (p.Gly43Ala)
NM_000075.4(CDK4):c.130G>C (p.Gly44Arg) rs2140388402
NM_000075.4(CDK4):c.131G>A (p.Gly44Glu) rs1595111083
NM_000075.4(CDK4):c.132_143del (p.Gly45_Gly48del) rs749094206
NM_000075.4(CDK4):c.132_143dup (p.Gly45_Gly48dup) rs749094206
NM_000075.4(CDK4):c.133G>A (p.Gly45Ser) rs876660318
NM_000075.4(CDK4):c.133G>T (p.Gly45Cys) rs876660318
NM_000075.4(CDK4):c.134G>A (p.Gly45Asp) rs1595111074
NM_000075.4(CDK4):c.135_143dup (p.Gly46_Gly48dup) rs1595111045
NM_000075.4(CDK4):c.136G>A (p.Gly46Arg) rs868244884
NM_000075.4(CDK4):c.137G>A (p.Gly46Glu) rs878853622
NM_000075.4(CDK4):c.13C>G (p.Arg5Gly) rs1595111256
NM_000075.4(CDK4):c.13C>T (p.Arg5Ter)
NM_000075.4(CDK4):c.142G>A (p.Gly48Ser) rs1595111053
NM_000075.4(CDK4):c.145C>G (p.Leu49Val)
NM_000075.4(CDK4):c.149C>T (p.Pro50Leu)
NM_000075.4(CDK4):c.154A>G (p.Ser52Gly)
NM_000075.4(CDK4):c.156C>G (p.Ser52Arg) rs1955237401
NM_000075.4(CDK4):c.160G>A (p.Val54Ile) rs775085950
NM_000075.4(CDK4):c.160G>C (p.Val54Leu)
NM_000075.4(CDK4):c.162T>A (p.Val54=)
NM_000075.4(CDK4):c.164G>A (p.Arg55His) rs2140388274
NM_000075.4(CDK4):c.169G>T (p.Val57Leu) rs1555201369
NM_000075.4(CDK4):c.16T>C (p.Tyr6His) rs2140388780
NM_000075.4(CDK4):c.172G>A (p.Ala58Thr) rs1955237174
NM_000075.4(CDK4):c.172_186del (p.Ala58_Arg62del) rs2140388212
NM_000075.4(CDK4):c.182G>A (p.Arg61Lys)
NM_000075.4(CDK4):c.185G>A (p.Arg62Gln) rs1595110979
NM_000075.4(CDK4):c.185G>C (p.Arg62Pro)
NM_000075.4(CDK4):c.190G>A (p.Glu64Lys) rs2140388188
NM_000075.4(CDK4):c.191A>G (p.Glu64Gly)
NM_000075.4(CDK4):c.197T>C (p.Phe66Ser)
NM_000075.4(CDK4):c.19G>A (p.Glu7Lys) rs1000052939
NM_000075.4(CDK4):c.200A>G (p.Glu67Gly) rs1955236749
NM_000075.4(CDK4):c.200A>T (p.Glu67Val) rs1955236749
NM_000075.4(CDK4):c.205C>A (p.Pro69Thr) rs2140388133
NM_000075.4(CDK4):c.208A>C (p.Asn70His)
NM_000075.4(CDK4):c.209A>G (p.Asn70Ser) rs1595110952
NM_000075.4(CDK4):c.211G>A (p.Val71Ile) rs1555201364
NM_000075.4(CDK4):c.215T>C (p.Val72Ala)
NM_000075.4(CDK4):c.217C>T (p.Arg73Trp) rs1437365423
NM_000075.4(CDK4):c.218+12G>A
NM_000075.4(CDK4):c.218+3G>A rs1955236485
NM_000075.4(CDK4):c.218+6_218+7delinsGT rs1955236436
NM_000075.4(CDK4):c.218+6_218+8del rs2140388072
NM_000075.4(CDK4):c.218G>A (p.Arg73Gln) rs971982706
NM_000075.4(CDK4):c.219-10C>G
NM_000075.4(CDK4):c.219G>C (p.Arg73=)
NM_000075.4(CDK4):c.220C>A (p.Leu74Met)
NM_000075.4(CDK4):c.220C>T (p.Leu74=)
NM_000075.4(CDK4):c.222_223delinsCT (p.Met75Leu) rs1955235130
NM_000075.4(CDK4):c.223A>C (p.Met75Leu) rs1343218987
NM_000075.4(CDK4):c.223A>G (p.Met75Val) rs1343218987
NM_000075.4(CDK4):c.223_230dup (p.Cys78fs) rs2140387576
NM_000075.4(CDK4):c.224T>C (p.Met75Thr)
NM_000075.4(CDK4):c.224T>G (p.Met75Arg) rs748983604
NM_000075.4(CDK4):c.228C>G (p.Asp76Glu) rs772531745
NM_000075.4(CDK4):c.235G>A (p.Ala79Thr) rs1555201333
NM_000075.4(CDK4):c.235G>C (p.Ala79Pro) rs1555201333
NM_000075.4(CDK4):c.241T>A (p.Ser81Thr)
NM_000075.4(CDK4):c.244C>G (p.Arg82Gly) rs1398120196
NM_000075.4(CDK4):c.245G>C (p.Arg82Pro) rs3211612
NM_000075.4(CDK4):c.245G>T (p.Arg82Leu) rs3211612
NM_000075.4(CDK4):c.248C>A (p.Thr83Asn) rs1595110800
NM_000075.4(CDK4):c.251A>T (p.Asp84Val)
NM_000075.4(CDK4):c.253C>G (p.Arg85Gly) rs759017803
NM_000075.4(CDK4):c.253C>T (p.Arg85Trp) rs759017803
NM_000075.4(CDK4):c.253_256dup (p.Glu86fs) rs2140387483
NM_000075.4(CDK4):c.257A>T (p.Glu86Val)
NM_000075.4(CDK4):c.265G>A (p.Val89Ile) rs1190779336
NM_000075.4(CDK4):c.269C>T (p.Thr90Ile) rs1955234447
NM_000075.4(CDK4):c.279T>G (p.Phe93Leu) rs1478574297
NM_000075.4(CDK4):c.283C>T (p.His95Tyr)
NM_000075.4(CDK4):c.284A>T (p.His95Leu)
NM_000075.4(CDK4):c.287T>C (p.Val96Ala) rs1955234241
NM_000075.4(CDK4):c.289G>A (p.Asp97Asn) rs1060501932
NM_000075.4(CDK4):c.289G>C (p.Asp97His) rs1060501932
NM_000075.4(CDK4):c.28G>A (p.Ala10Thr) rs1955239777
NM_000075.4(CDK4):c.291C>A (p.Asp97Glu) rs1595110740
NM_000075.4(CDK4):c.292C>T (p.Gln98Ter)
NM_000075.4(CDK4):c.295G>A (p.Asp99Asn) rs1955234069
NM_000075.4(CDK4):c.302G>A (p.Arg101Lys)
NM_000075.4(CDK4):c.304A>G (p.Thr102Ala)
NM_000075.4(CDK4):c.306_322del (p.Tyr103fs) rs1955233713
NM_000075.4(CDK4):c.307dup (p.Tyr103fs) rs1955233961
NM_000075.4(CDK4):c.308A>C (p.Tyr103Ser)
NM_000075.4(CDK4):c.310C>A (p.Leu104Met) rs759535768
NM_000075.4(CDK4):c.310C>G (p.Leu104Val)
NM_000075.4(CDK4):c.311T>A (p.Leu104Gln)
NM_000075.4(CDK4):c.314A>G (p.Asp105Gly)
NM_000075.4(CDK4):c.315C>A (p.Asp105Glu) rs1158206003
NM_000075.4(CDK4):c.315C>G (p.Asp105Glu) rs1158206003
NM_000075.4(CDK4):c.317A>G (p.Lys106Arg) rs1955233800
NM_000075.4(CDK4):c.318G>T (p.Lys106Asn)
NM_000075.4(CDK4):c.319G>A (p.Ala107Thr) rs1955233778
NM_000075.4(CDK4):c.31G>T (p.Glu11Ter) rs2140388732
NM_000075.4(CDK4):c.320C>T (p.Ala107Val) rs1955233758
NM_000075.4(CDK4):c.323C>A (p.Pro108His) rs1595110706
NM_000075.4(CDK4):c.325C>G (p.Pro109Ala)
NM_000075.4(CDK4):c.325C>T (p.Pro109Ser) rs1345420183
NM_000075.4(CDK4):c.328C>T (p.Pro110Ser)
NM_000075.4(CDK4):c.329C>G (p.Pro110Arg)
NM_000075.4(CDK4):c.331G>A (p.Gly111Ser) rs1277385976
NM_000075.4(CDK4):c.332G>A (p.Gly111Asp)
NM_000075.4(CDK4):c.338C>A (p.Pro113Gln) rs1955233297
NM_000075.4(CDK4):c.340G>A (p.Ala114Thr)
NM_000075.4(CDK4):c.340G>C (p.Ala114Pro) rs1955233266
NM_000075.4(CDK4):c.343G>C (p.Glu115Gln) rs772938517
NM_000075.4(CDK4):c.343G>T (p.Glu115Ter)
NM_000075.4(CDK4):c.344A>C (p.Glu115Ala) rs1955233133
NM_000075.4(CDK4):c.347_348delinsGA (p.Thr116Arg)
NM_000075.4(CDK4):c.354+3G>A rs746395249
NM_000075.4(CDK4):c.354+5G>A
NM_000075.4(CDK4):c.354+5G>T
NM_000075.4(CDK4):c.354+6T>A rs1955232809
NM_000075.4(CDK4):c.355G>C (p.Asp119His) rs2140386821
NM_000075.4(CDK4):c.356A>C (p.Asp119Ala) rs1236598333
NM_000075.4(CDK4):c.358C>A (p.Leu120Met)
NM_000075.4(CDK4):c.359T>A (p.Leu120Gln) rs1955231423
NM_000075.4(CDK4):c.35T>C (p.Ile12Thr)
NM_000075.4(CDK4):c.363G>A (p.Met121Ile)
NM_000075.4(CDK4):c.367C>T (p.Gln123Ter) rs1565806579
NM_000075.4(CDK4):c.369G>T (p.Gln123His) rs1955231243
NM_000075.4(CDK4):c.36del (p.Ile12fs) rs2140388718
NM_000075.4(CDK4):c.370T>C (p.Phe124Leu) rs1955231212
NM_000075.4(CDK4):c.371T>C (p.Phe124Ser) rs2140386772
NM_000075.4(CDK4):c.376A>G (p.Arg126Gly) rs1565806573
NM_000075.4(CDK4):c.377G>C (p.Arg126Thr)
NM_000075.4(CDK4):c.38G>A (p.Gly13Asp) rs753152604
NM_000075.4(CDK4):c.38G>T (p.Gly13Val) rs753152604
NM_000075.4(CDK4):c.392T>G (p.Leu131Arg) rs1955230904
NM_000075.4(CDK4):c.397G>A (p.Ala133Thr) rs751684879
NM_000075.4(CDK4):c.401A>G (p.Asn134Ser) rs1595110530
NM_000075.4(CDK4):c.406A>G (p.Ile136Val)
NM_000075.4(CDK4):c.408C>G (p.Ile136Met)
NM_000075.4(CDK4):c.409G>C (p.Val137Leu) rs150281463
NM_000075.4(CDK4):c.415C>G (p.Arg139Gly) rs753579957
NM_000075.4(CDK4):c.41T>C (p.Val14Ala)
NM_000075.4(CDK4):c.42_45del (p.Gly15fs) rs2140388683
NM_000075.4(CDK4):c.430G>A (p.Glu144Lys)
NM_000075.4(CDK4):c.430G>C (p.Glu144Gln)
NM_000075.4(CDK4):c.43G>A (p.Gly15Ser) rs1355460580
NM_000075.4(CDK4):c.43G>C (p.Gly15Arg) rs1355460580
NM_000075.4(CDK4):c.442G>T (p.Val148Leu) rs1595110489
NM_000075.4(CDK4):c.445A>G (p.Thr149Ala)
NM_000075.4(CDK4):c.448A>G (p.Ser150Gly)
NM_000075.4(CDK4):c.44G>T (p.Gly15Val)
NM_000075.4(CDK4):c.456A>T (p.Gly152=) rs2140386481
NM_000075.4(CDK4):c.457A>T (p.Thr153Ser) rs2140386477
NM_000075.4(CDK4):c.458C>G (p.Thr153Arg) rs1443076952
NM_000075.4(CDK4):c.474C>G (p.Asp158Glu)
NM_000075.4(CDK4):c.477del (p.Phe159fs) rs786203016
NM_000075.4(CDK4):c.481C>G (p.Leu161Val)
NM_000075.4(CDK4):c.484G>A (p.Ala162Thr)
NM_000075.4(CDK4):c.484G>C (p.Ala162Pro) rs1555201301
NM_000075.4(CDK4):c.485C>A (p.Ala162Asp) rs1565806506
NM_000075.4(CDK4):c.487_488delinsGC (p.Arg163Ala) rs1955229482
NM_000075.4(CDK4):c.491T>G (p.Ile164Ser)
NM_000075.4(CDK4):c.494A>G (p.Tyr165Cys) rs1955229396
NM_000075.4(CDK4):c.496A>G (p.Ser166Gly) rs1487656600
NM_000075.4(CDK4):c.497G>C (p.Ser166Thr) rs876660536
NM_000075.4(CDK4):c.49T>C (p.Tyr17His) rs1555201383
NM_000075.4(CDK4):c.4G>A (p.Ala2Thr) rs1483991096
NM_000075.4(CDK4):c.500A>G (p.Tyr167Cys)
NM_000075.4(CDK4):c.502C>T (p.Gln168Ter) rs1555201299
NM_000075.4(CDK4):c.504G>C (p.Gln168His) rs770086242
NM_000075.4(CDK4):c.505A>G (p.Met169Val)
NM_000075.4(CDK4):c.50A>G (p.Tyr17Cys) rs781527596
NM_000075.4(CDK4):c.515C>G (p.Thr172Arg)
NM_000075.4(CDK4):c.517C>A (p.Pro173Thr) rs768904034
NM_000075.4(CDK4):c.519C>G (p.Pro173=) rs747084709
NM_000075.4(CDK4):c.51T>A (p.Tyr17Ter) rs2140388654
NM_000075.4(CDK4):c.524T>C (p.Val175Ala) rs2140385900
NM_000075.4(CDK4):c.527T>C (p.Val176Ala) rs2140385892
NM_000075.4(CDK4):c.529A>G (p.Thr177Ala) rs1555201280
NM_000075.4(CDK4):c.530C>A (p.Thr177Lys)
NM_000075.4(CDK4):c.530C>T (p.Thr177Ile)
NM_000075.4(CDK4):c.535T>C (p.Trp179Arg)
NM_000075.4(CDK4):c.537G>C (p.Trp179Cys) rs2140385865
NM_000075.4(CDK4):c.541C>G (p.Arg181Gly) rs1595110257
NM_000075.4(CDK4):c.541C>T (p.Arg181Ter)
NM_000075.4(CDK4):c.542G>C (p.Arg181Pro) rs772079285
NM_000075.4(CDK4):c.544G>T (p.Ala182Ser)
NM_000075.4(CDK4):c.549_567del (p.Glu184fs) rs1955226726
NM_000075.4(CDK4):c.550G>A (p.Glu184Lys) rs1595110227
NM_000075.4(CDK4):c.550G>T (p.Glu184Ter)
NM_000075.4(CDK4):c.555TCT[1] (p.Leu187del) rs2140385796
NM_000075.4(CDK4):c.556C>T (p.Leu186Phe)
NM_000075.4(CDK4):c.55A>G (p.Thr19Ala) rs1595111197
NM_000075.4(CDK4):c.560T>G (p.Leu187Arg) rs1955226839
NM_000075.4(CDK4):c.562C>A (p.Gln188Lys) rs1555201274
NM_000075.4(CDK4):c.563A>G (p.Gln188Arg) rs2140385786
NM_000075.4(CDK4):c.566C>A (p.Ser189Tyr)
NM_000075.4(CDK4):c.569C>T (p.Thr190Ile) rs2140385772
NM_000075.4(CDK4):c.571T>A (p.Tyr191Asn) rs1955226614
NM_000075.4(CDK4):c.571T>C (p.Tyr191His) rs1955226614
NM_000075.4(CDK4):c.572A>G (p.Tyr191Cys) rs1955226587
NM_000075.4(CDK4):c.575C>G (p.Ala192Gly) rs2140385751
NM_000075.4(CDK4):c.577A>T (p.Thr193Ser) rs543769986
NM_000075.4(CDK4):c.578C>T (p.Thr193Ile) rs1955226446
NM_000075.4(CDK4):c.580C>A (p.Pro194Thr)
NM_000075.4(CDK4):c.581C>A (p.Pro194His) rs1198423952
NM_000075.4(CDK4):c.581C>T (p.Pro194Leu) rs1198423952
NM_000075.4(CDK4):c.583G>A (p.Val195Met) rs1955226317
NM_000075.4(CDK4):c.590T>C (p.Met197Thr) rs975342748
NM_000075.4(CDK4):c.592T>C (p.Trp198Arg)
NM_000075.4(CDK4):c.595A>C (p.Ser199Arg)
NM_000075.4(CDK4):c.598G>T (p.Val200Phe) rs2140385681
NM_000075.4(CDK4):c.599T>C (p.Val200Ala) rs1060501929
NM_000075.4(CDK4):c.599T>G (p.Val200Gly) rs1060501929
NM_000075.4(CDK4):c.59T>C (p.Val20Ala)
NM_000075.4(CDK4):c.607A>G (p.Ile203Val)
NM_000075.4(CDK4):c.610T>A (p.Phe204Ile) rs1955226021
NM_000075.4(CDK4):c.611T>C (p.Phe204Ser)
NM_000075.4(CDK4):c.613G>A (p.Ala205Thr) rs368013594
NM_000075.4(CDK4):c.620T>C (p.Met207Thr) rs1339920302
NM_000075.4(CDK4):c.628C>T (p.Arg210Ter) rs1595110146
NM_000075.4(CDK4):c.629G>C (p.Arg210Pro) rs373619077
NM_000075.4(CDK4):c.629G>T (p.Arg210Leu) rs373619077
NM_000075.4(CDK4):c.631A>C (p.Lys211Gln)
NM_000075.4(CDK4):c.632+1_632+33del
NM_000075.4(CDK4):c.632+4T>A rs1397979744
NM_000075.4(CDK4):c.632+5G>A
NM_000075.4(CDK4):c.632+7G>T rs1955225535
NM_000075.4(CDK4):c.632A>C (p.Lys211Thr) rs765656720
NM_000075.4(CDK4):c.634C>G (p.Pro212Ala) rs1955206702
NM_000075.4(CDK4):c.634C>T (p.Pro212Ser)
NM_000075.4(CDK4):c.635C>T (p.Pro212Leu)
NM_000075.4(CDK4):c.642C>G (p.Phe214Leu)
NM_000075.4(CDK4):c.643T>C (p.Cys215Arg) rs1595109029
NM_000075.4(CDK4):c.644G>A (p.Cys215Tyr)
NM_000075.4(CDK4):c.644G>C (p.Cys215Ser) rs1955206509
NM_000075.4(CDK4):c.646G>A (p.Gly216Arg) rs1955206422
NM_000075.4(CDK4):c.647G>A (p.Gly216Glu) rs1955206366
NM_000075.4(CDK4):c.647G>C (p.Gly216Ala) rs1955206366
NM_000075.4(CDK4):c.647G>T (p.Gly216Val) rs1955206366
NM_000075.4(CDK4):c.652T>A (p.Ser218Thr) rs1955206277
NM_000075.4(CDK4):c.653C>A (p.Ser218Tyr) rs1955206224
NM_000075.4(CDK4):c.653C>G (p.Ser218Cys) rs1955206224
NM_000075.4(CDK4):c.653C>T (p.Ser218Phe)
NM_000075.4(CDK4):c.663C>G (p.Asp221Glu) rs1205343806
NM_000075.4(CDK4):c.664C>A (p.Gln222Lys)
NM_000075.4(CDK4):c.666G>C (p.Gln222His)
NM_000075.4(CDK4):c.670G>A (p.Gly224Ser) rs1555201123
NM_000075.4(CDK4):c.670G>C (p.Gly224Arg) rs1555201123
NM_000075.4(CDK4):c.680_681del (p.Ile226_Phe227insTer)
NM_000075.4(CDK4):c.684C>A (p.Asp228Glu) rs1555201112
NM_000075.4(CDK4):c.698C>T (p.Pro233Leu) rs1955202640
NM_000075.4(CDK4):c.700C>A (p.Pro234Thr) rs1474793589
NM_000075.4(CDK4):c.700C>G (p.Pro234Ala) rs1474793589
NM_000075.4(CDK4):c.701C>A (p.Pro234Gln)
NM_000075.4(CDK4):c.701C>T (p.Pro234Leu) rs771702415
NM_000075.4(CDK4):c.707A>G (p.Asp236Gly) rs1403703683
NM_000075.4(CDK4):c.70C>G (p.Arg24Gly) rs11547328
NM_000075.4(CDK4):c.710A>C (p.Asp237Ala) rs1555201108
NM_000075.4(CDK4):c.711C>G (p.Asp237Glu) rs2140383063
NM_000075.4(CDK4):c.716C>T (p.Pro239Leu)
NM_000075.4(CDK4):c.718C>G (p.Arg240Gly) rs786203856
NM_000075.4(CDK4):c.718C>T (p.Arg240Ter) rs786203856
NM_000075.4(CDK4):c.719G>C (p.Arg240Pro) rs531817742
NM_000075.4(CDK4):c.721G>C (p.Asp241His) rs755502728
NM_000075.4(CDK4):c.723T>G (p.Asp241Glu) rs1595108790
NM_000075.4(CDK4):c.724G>A (p.Val242Ile) rs876658903
NM_000075.4(CDK4):c.724G>T (p.Val242Leu) rs876658903
NM_000075.4(CDK4):c.725T>C (p.Val242Ala) rs747362286
NM_000075.4(CDK4):c.734C>T (p.Pro245Leu) rs1955201842
NM_000075.4(CDK4):c.736C>G (p.Arg246Gly) rs370258992
NM_000075.4(CDK4):c.739G>A (p.Gly247Arg) rs1555201101
NM_000075.4(CDK4):c.740G>A (p.Gly247Glu) rs921450127
NM_000075.4(CDK4):c.741dup (p.Ala248fs) rs2140382922
NM_000075.4(CDK4):c.743C>A (p.Ala248Asp) rs1595108770
NM_000075.4(CDK4):c.743C>G (p.Ala248Gly) rs1595108770
NM_000075.4(CDK4):c.748C>A (p.Pro250Thr) rs2140382889
NM_000075.4(CDK4):c.748C>G (p.Pro250Ala)
NM_000075.4(CDK4):c.749C>A (p.Pro250His) rs1955201479
NM_000075.4(CDK4):c.751C>T (p.Pro251Ser) rs2140382870
NM_000075.4(CDK4):c.752C>T (p.Pro251Leu) rs143670820
NM_000075.4(CDK4):c.753dup (p.Arg252fs) rs754187815
NM_000075.4(CDK4):c.757G>C (p.Gly253Arg) rs1955201304
NM_000075.4(CDK4):c.758G>A (p.Gly253Glu) rs1955201268
NM_000075.4(CDK4):c.760C>T (p.Pro254Ser) rs587779896
NM_000075.4(CDK4):c.767C>T (p.Pro256Leu) rs1234167326
NM_000075.4(CDK4):c.769G>A (p.Val257Met)
NM_000075.4(CDK4):c.770T>A (p.Val257Glu) rs1955200973
NM_000075.4(CDK4):c.775T>C (p.Ser259Pro)
NM_000075.4(CDK4):c.781G>T (p.Val261Leu)
NM_000075.4(CDK4):c.782T>C (p.Val261Ala) rs2140382749
NM_000075.4(CDK4):c.784C>T (p.Pro262Ser) rs1358878722
NM_000075.4(CDK4):c.787G>A (p.Glu263Lys)
NM_000075.4(CDK4):c.790A>G (p.Met264Val) rs1955200152
NM_000075.4(CDK4):c.790_795del (p.Met264_Glu265del) rs1595108668
NM_000075.4(CDK4):c.792G>A (p.Met264Ile) rs1955200108
NM_000075.4(CDK4):c.793G>A (p.Glu265Lys) rs769226197
NM_000075.4(CDK4):c.795G>C (p.Glu265Asp) rs747521511
NM_000075.4(CDK4):c.796G>A (p.Glu266Lys)
NM_000075.4(CDK4):c.796G>C (p.Glu266Gln) rs1193086731
NM_000075.4(CDK4):c.797A>G (p.Glu266Gly)
NM_000075.4(CDK4):c.799T>G (p.Ser267Ala)
NM_000075.4(CDK4):c.802G>A (p.Gly268Arg) rs2140382669
NM_000075.4(CDK4):c.805G>A (p.Ala269Thr) rs786202902
NM_000075.4(CDK4):c.805G>T (p.Ala269Ser)
NM_000075.4(CDK4):c.820G>C (p.Glu274Gln) rs2140381289
NM_000075.4(CDK4):c.821A>G (p.Glu274Gly) rs1565805274
NM_000075.4(CDK4):c.823A>C (p.Met275Leu)
NM_000075.4(CDK4):c.823A>T (p.Met275Leu) rs587781723
NM_000075.4(CDK4):c.824T>C (p.Met275Thr)
NM_000075.4(CDK4):c.82A>G (p.Ser28Gly)
NM_000075.4(CDK4):c.833_834dup (p.Asn279fs) rs1955188005
NM_000075.4(CDK4):c.834T>G (p.Phe278Leu) rs115576923
NM_000075.4(CDK4):c.837C>G (p.Asn279Lys)
NM_000075.4(CDK4):c.839C>T (p.Pro280Leu) rs2140381227
NM_000075.4(CDK4):c.841C>A (p.His281Asn) rs876659522
NM_000075.4(CDK4):c.843C>G (p.His281Gln)
NM_000075.4(CDK4):c.845A>C (p.Lys282Thr) rs2140381204
NM_000075.4(CDK4):c.845A>G (p.Lys282Arg)
NM_000075.4(CDK4):c.848G>A (p.Arg283Gln) rs1595107806
NM_000075.4(CDK4):c.848G>C (p.Arg283Pro) rs1595107806
NM_000075.4(CDK4):c.850A>G (p.Ile284Val) rs730881671
NM_000075.4(CDK4):c.851T>C (p.Ile284Thr) rs751365131
NM_000075.4(CDK4):c.856G>T (p.Ala286Ser) rs1595107784
NM_000075.4(CDK4):c.857C>T (p.Ala286Val) rs2140381155
NM_000075.4(CDK4):c.862C>G (p.Arg288Gly) rs587779897
NM_000075.4(CDK4):c.862C>T (p.Arg288Ter) rs587779897
NM_000075.4(CDK4):c.863G>C (p.Arg288Pro) rs761577371
NM_000075.4(CDK4):c.868C>A (p.Leu290Met) rs1555201026
NM_000075.4(CDK4):c.871dup (p.Gln291fs) rs1955187145
NM_000075.4(CDK4):c.872A>C (p.Gln291Pro) rs1955187106
NM_000075.4(CDK4):c.875A>G (p.His292Arg)
NM_000075.4(CDK4):c.880T>C (p.Tyr294His)
NM_000075.4(CDK4):c.880_884del (p.Tyr294fs) rs2140381054
NM_000075.4(CDK4):c.880dup (p.Tyr294fs) rs1302362629
NM_000075.4(CDK4):c.881A>G (p.Tyr294Cys) rs1565805206
NM_000075.4(CDK4):c.887A>G (p.His296Arg) rs786202648
NM_000075.4(CDK4):c.889_903del (p.Lys297_Asn301del)
NM_000075.4(CDK4):c.88C>T (p.His30Tyr) rs750707985
NM_000075.4(CDK4):c.890del (p.Lys297fs) rs2140381025
NM_000075.4(CDK4):c.893A>T (p.Asp298Val)
NM_000075.4(CDK4):c.895G>A (p.Glu299Lys) rs1161260206
NM_000075.4(CDK4):c.897A>T (p.Glu299Asp) rs1595107685
NM_000075.4(CDK4):c.899G>T (p.Gly300Val)
NM_000075.4(CDK4):c.901A>C (p.Asn301His) rs876660404
NM_000075.4(CDK4):c.902A>G (p.Asn301Ser) rs1955186510
NM_000075.4(CDK4):c.904C>G (p.Pro302Ala) rs2140380962
NM_000075.4(CDK4):c.907G>A (p.Glu303Lys) rs1253318687
NM_000075.4(CDK4):c.907G>T (p.Glu303Ter)
NM_000075.4(CDK4):c.910T>A (p.Ter304Arg) rs2140380940
NM_000075.4(CDK4):c.911G>T (p.Ter304Leu) rs1595107648
NM_000075.4(CDK4):c.93T>G (p.Phe31Leu) rs1595111145
NM_000077.4(CDKN2A):c.-306-?_*477+?dup
NM_000077.5(CDKN2A):c.*9G>T rs863224604
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del) rs587780668
NM_000077.5(CDKN2A):c.-21C>T rs762129503
NM_000077.5(CDKN2A):c.100G>A (p.Ala34Thr) rs1554656349
NM_000077.5(CDKN2A):c.101C>T (p.Ala34Val) rs1554656344
NM_000077.5(CDKN2A):c.104G>A (p.Gly35Glu) rs746834149
NM_000077.5(CDKN2A):c.104G>T (p.Gly35Val) rs746834149
NM_000077.5(CDKN2A):c.106G>T (p.Ala36Ser) rs777948908
NM_000077.5(CDKN2A):c.107C>T (p.Ala36Val) rs200382984
NM_000077.5(CDKN2A):c.10G>A (p.Ala4Thr) rs2131114193
NM_000077.5(CDKN2A):c.110T>G (p.Leu37Arg) rs2131112527
NM_000077.5(CDKN2A):c.112C>T (p.Pro38Ser) rs1587339752
NM_000077.5(CDKN2A):c.113C>G (p.Pro38Arg)
NM_000077.5(CDKN2A):c.116A>G (p.Asn39Ser)
NM_000077.5(CDKN2A):c.117C>A (p.Asn39Lys) rs864622439
NM_000077.5(CDKN2A):c.118G>C (p.Ala40Pro) rs1554656295
NM_000077.5(CDKN2A):c.118G>T (p.Ala40Ser) rs1554656295
NM_000077.5(CDKN2A):c.11C>T (p.Ala4Val) rs1277299943
NM_000077.5(CDKN2A):c.121C>T (p.Pro41Ser)
NM_000077.5(CDKN2A):c.124A>G (p.Asn42Asp) rs1587339662
NM_000077.5(CDKN2A):c.125A>G (p.Asn42Ser) rs1060501264
NM_000077.5(CDKN2A):c.126T>G (p.Asn42Lys) rs1587339638
NM_000077.5(CDKN2A):c.128G>A (p.Ser43Asn) rs761079352
NM_000077.5(CDKN2A):c.128G>C (p.Ser43Thr) rs761079352
NM_000077.5(CDKN2A):c.129_131dup (p.Tyr44dup) rs1819947833
NM_000077.5(CDKN2A):c.133G>A (p.Gly45Ser) rs1328708469
NM_000077.5(CDKN2A):c.133G>C (p.Gly45Arg) rs1328708469
NM_000077.5(CDKN2A):c.133G>T (p.Gly45Cys) rs1328708469
NM_000077.5(CDKN2A):c.133_135del (p.Gly45del) rs2131112114
NM_000077.5(CDKN2A):c.134G>C (p.Gly45Ala) rs2131112123
NM_000077.5(CDKN2A):c.136C>T (p.Arg46Trp) rs1563892516
NM_000077.5(CDKN2A):c.137G>A (p.Arg46Gln) rs1554656241
NM_000077.5(CDKN2A):c.137G>C (p.Arg46Pro) rs1554656241
NM_000077.5(CDKN2A):c.13G>A (p.Ala5Thr) rs771582621
NM_000077.5(CDKN2A):c.140G>A (p.Arg47Lys)
NM_000077.5(CDKN2A):c.143C>A (p.Pro48Gln) rs763804037
NM_000077.5(CDKN2A):c.143C>G (p.Pro48Arg) rs763804037
NM_000077.5(CDKN2A):c.147C>G (p.Ile49Met) rs200738474
NM_000077.5(CDKN2A):c.149A>T (p.Gln50Leu) rs587778189
NM_000077.5(CDKN2A):c.14C>T (p.Ala5Val) rs1554656700
NM_000077.5(CDKN2A):c.150+3G>T
NM_000077.5(CDKN2A):c.150+3dup rs1235245881
NM_000077.5(CDKN2A):c.150+4G>A rs1563892453
NM_000077.5(CDKN2A):c.150+4G>C
NM_000077.5(CDKN2A):c.150+5G>T rs1554656188
NM_000077.5(CDKN2A):c.150G>A (p.Gln50=)
NM_000077.5(CDKN2A):c.150G>C (p.Gln50His) rs1057519882
NM_000077.5(CDKN2A):c.150G>T (p.Gln50His) rs1057519882
NM_000077.5(CDKN2A):c.151G>T (p.Val51Phe)
NM_000077.5(CDKN2A):c.153C>A (p.Val51=) rs2131096751
NM_000077.5(CDKN2A):c.154ATG[2] (p.Met54del) rs2131096613
NM_000077.5(CDKN2A):c.156G>A (p.Met52Ile) rs1377159790
NM_000077.5(CDKN2A):c.156G>C (p.Met52Ile)
NM_000077.5(CDKN2A):c.158T>C (p.Met53Thr) rs2131096665
NM_000077.5(CDKN2A):c.15_16delinsCT (p.Gly6Trp) rs2131114105
NM_000077.5(CDKN2A):c.160A>T (p.Met54Leu) rs201314211
NM_000077.5(CDKN2A):c.162G>A (p.Met54Ile) rs776792523
NM_000077.5(CDKN2A):c.163G>C (p.Gly55Arg) rs1563889961
NM_000077.5(CDKN2A):c.164G>T (p.Gly55Val)
NM_000077.5(CDKN2A):c.167G>A (p.Ser56Asn) rs104894109
NM_000077.5(CDKN2A):c.168C>A (p.Ser56Arg) rs771138120
NM_000077.5(CDKN2A):c.168C>G (p.Ser56Arg) rs771138120
NM_000077.5(CDKN2A):c.168C>T (p.Ser56=) rs771138120
NM_000077.5(CDKN2A):c.16G>A (p.Gly6Arg) rs587778190
NM_000077.5(CDKN2A):c.16G>T (p.Gly6Trp) rs587778190
NM_000077.5(CDKN2A):c.170C>A (p.Ala57Asp) rs372266620
NM_000077.5(CDKN2A):c.170C>G (p.Ala57Gly) rs372266620
NM_000077.5(CDKN2A):c.172C>G (p.Arg58Gly) rs121913387
NM_000077.5(CDKN2A):c.173G>A (p.Arg58Gln)
NM_000077.5(CDKN2A):c.173G>T (p.Arg58Leu)
NM_000077.5(CDKN2A):c.174A>G (p.Arg58=) rs201208890
NM_000077.5(CDKN2A):c.175G>A (p.Val59Met) rs1819723898
NM_000077.5(CDKN2A):c.175G>T (p.Val59Leu)
NM_000077.5(CDKN2A):c.176T>C (p.Val59Ala) rs104894099
NM_000077.5(CDKN2A):c.177G>A (p.Val59=) rs527503775
NM_000077.5(CDKN2A):c.178G>C (p.Ala60Pro) rs769382085
NM_000077.5(CDKN2A):c.179C>T (p.Ala60Val) rs36204594
NM_000077.5(CDKN2A):c.17G>A (p.Gly6Glu) rs864622656
NM_000077.5(CDKN2A):c.17G>C (p.Gly6Ala) rs864622656
NM_000077.5(CDKN2A):c.17G>T (p.Gly6Val) rs864622656
NM_000077.5(CDKN2A):c.180G>A (p.Ala60=) rs1286147184
NM_000077.5(CDKN2A):c.183G>C (p.Glu61Asp) rs878853645
NM_000077.5(CDKN2A):c.183GCT[5] (p.Leu65dup) rs2131096063
NM_000077.5(CDKN2A):c.188T>C (p.Leu63Pro) rs2131096164
NM_000077.5(CDKN2A):c.189G>A (p.Leu63=) rs1309566180
NM_000077.5(CDKN2A):c.18G>T (p.Gly6=) rs1819965928
NM_000077.5(CDKN2A):c.190C>G (p.Leu64Val)
NM_000077.5(CDKN2A):c.192G>T (p.Leu64=) rs876659128
NM_000077.5(CDKN2A):c.193C>T (p.Leu65Phe) rs1819721047
NM_000077.5(CDKN2A):c.196C>G (p.His66Asp) rs1819720314
NM_000077.5(CDKN2A):c.196C>T (p.His66Tyr) rs1819720314
NM_000077.5(CDKN2A):c.198C>A (p.His66Gln) rs374984975
NM_000077.5(CDKN2A):c.198C>G (p.His66Gln) rs374984975
NM_000077.5(CDKN2A):c.199G>A (p.Gly67Ser) rs758389471
NM_000077.5(CDKN2A):c.199G>C (p.Gly67Arg) rs758389471
NM_000077.5(CDKN2A):c.19A>T (p.Ser7Cys) rs1554656670
NM_000077.5(CDKN2A):c.1A>G (p.Met1Val) rs1587340603
NM_000077.5(CDKN2A):c.1A>T (p.Met1Leu) rs1587340603
NM_000077.5(CDKN2A):c.1_14del (p.Met1fs) rs1587340512
NM_000077.5(CDKN2A):c.202G>A (p.Ala68Thr)
NM_000077.5(CDKN2A):c.202G>C (p.Ala68Pro) rs1819719137
NM_000077.5(CDKN2A):c.202G>T (p.Ala68Ser) rs1819719137
NM_000077.5(CDKN2A):c.203C>G (p.Ala68Gly) rs1060501260
NM_000077.5(CDKN2A):c.203C>T (p.Ala68Val) rs1060501260
NM_000077.5(CDKN2A):c.205G>A (p.Glu69Lys) rs121913383
NM_000077.5(CDKN2A):c.206A>C (p.Glu69Ala)
NM_000077.5(CDKN2A):c.207G>A (p.Glu69=) rs1587332220
NM_000077.5(CDKN2A):c.207G>T (p.Glu69Asp) rs1587332220
NM_000077.5(CDKN2A):c.208C>A (p.Pro70Thr) rs1819718265
NM_000077.5(CDKN2A):c.208C>T (p.Pro70Ser) rs1819718265
NM_000077.5(CDKN2A):c.209C>T (p.Pro70Leu) rs786202575
NM_000077.5(CDKN2A):c.212A>C (p.Asn71Thr)
NM_000077.5(CDKN2A):c.214T>A (p.Cys72Ser) rs1554654142
NM_000077.5(CDKN2A):c.214T>G (p.Cys72Gly) rs1554654142
NM_000077.5(CDKN2A):c.217G>A (p.Ala73Thr)
NM_000077.5(CDKN2A):c.218_220del (p.Ala73del)
NM_000077.5(CDKN2A):c.218_220dup (p.Ala73dup) rs1554654136
NM_000077.5(CDKN2A):c.220G>A (p.Asp74Asn) rs760640852
NM_000077.5(CDKN2A):c.221A>T (p.Asp74Val) rs200429615
NM_000077.5(CDKN2A):c.222C>G (p.Asp74Glu) rs1587332001
NM_000077.5(CDKN2A):c.223C>T (p.Pro75Ser) rs1202706337
NM_000077.5(CDKN2A):c.226G>T (p.Ala76Ser)
NM_000077.5(CDKN2A):c.229A>G (p.Thr77Ala) rs1563889628
NM_000077.5(CDKN2A):c.22A>C (p.Ser8Arg) rs1554656665
NM_000077.5(CDKN2A):c.232C>G (p.Leu78Val)
NM_000077.5(CDKN2A):c.232C>T (p.Leu78Phe) rs1563889606
NM_000077.5(CDKN2A):c.233T>G (p.Leu78Arg) rs1554654118
NM_000077.5(CDKN2A):c.234C>T (p.Leu78=) rs1587331920
NM_000077.5(CDKN2A):c.235A>C (p.Thr79Pro) rs1554654113
NM_000077.5(CDKN2A):c.236C>A (p.Thr79Asn) rs1034265990
NM_000077.5(CDKN2A):c.236C>G (p.Thr79Ser) rs1034265990
NM_000077.5(CDKN2A):c.236C>T (p.Thr79Ile) rs1034265990
NM_000077.5(CDKN2A):c.239G>A (p.Arg80Gln) rs1057519883
NM_000077.5(CDKN2A):c.239G>C (p.Arg80Pro)
NM_000077.5(CDKN2A):c.23G>C (p.Ser8Thr) rs1554656656
NM_000077.5(CDKN2A):c.243C>T (p.Pro81=) rs1060504185
NM_000077.5(CDKN2A):c.244G>A (p.Val82Met) rs1060501269
NM_000077.5(CDKN2A):c.244G>C (p.Val82Leu) rs1060501269
NM_000077.5(CDKN2A):c.244G>T (p.Val82Leu) rs1060501269
NM_000077.5(CDKN2A):c.245T>A (p.Val82Glu) rs1819711290
NM_000077.5(CDKN2A):c.246G>A (p.Val82=) rs1060504181
NM_000077.5(CDKN2A):c.246G>C (p.Val82=) rs1060504181
NM_000077.5(CDKN2A):c.247C>T (p.His83Tyr) rs121913385
NM_000077.5(CDKN2A):c.249C>A (p.His83Gln) rs34968276
NM_000077.5(CDKN2A):c.249C>T (p.His83=) rs34968276
NM_000077.5(CDKN2A):c.250G>A (p.Asp84Asn) rs11552822
NM_000077.5(CDKN2A):c.250G>C (p.Asp84His)
NM_000077.5(CDKN2A):c.250G>T (p.Asp84Tyr) rs11552822
NM_000077.5(CDKN2A):c.252C>G (p.Asp84Glu)
NM_000077.5(CDKN2A):c.252C>T (p.Asp84=) rs1472715728
NM_000077.5(CDKN2A):c.253G>A (p.Ala85Thr) rs878853646
NM_000077.5(CDKN2A):c.253G>C (p.Ala85Pro) rs878853646
NM_000077.5(CDKN2A):c.253G>T (p.Ala85Ser) rs878853646
NM_000077.5(CDKN2A):c.253_254delinsTT (p.Ala85Phe) rs1064796336
NM_000077.5(CDKN2A):c.254C>T (p.Ala85Val) rs2131094921
NM_000077.5(CDKN2A):c.259C>A (p.Arg87=) rs749714198
NM_000077.5(CDKN2A):c.25A>G (p.Met9Val) rs748866274
NM_000077.5(CDKN2A):c.262G>A (p.Glu88Lys) rs121913384
NM_000077.5(CDKN2A):c.262G>C (p.Glu88Gln) rs121913384
NM_000077.5(CDKN2A):c.265G>A (p.Gly89Ser) rs137854597
NM_000077.5(CDKN2A):c.265G>T (p.Gly89Cys)
NM_000077.5(CDKN2A):c.266G>A (p.Gly89Asp) rs137854599
NM_000077.5(CDKN2A):c.266G>C (p.Gly89Ala) rs137854599
NM_000077.5(CDKN2A):c.268T>C (p.Phe90Leu)
NM_000077.5(CDKN2A):c.269T>G (p.Phe90Cys) rs1554654069
NM_000077.5(CDKN2A):c.26T>A (p.Met9Lys) rs145445140
NM_000077.5(CDKN2A):c.26T>C (p.Met9Thr) rs145445140
NM_000077.5(CDKN2A):c.26T>G (p.Met9Arg) rs145445140
NM_000077.5(CDKN2A):c.271C>A (p.Leu91Met)
NM_000077.5(CDKN2A):c.271C>T (p.Leu91=) rs1554654063
NM_000077.5(CDKN2A):c.272T>A (p.Leu91Gln) rs1563889362
NM_000077.5(CDKN2A):c.274G>C (p.Asp92His)
NM_000077.5(CDKN2A):c.276C>A (p.Asp92Glu) rs1587331567
NM_000077.5(CDKN2A):c.277A>G (p.Thr93Ala)
NM_000077.5(CDKN2A):c.278C>A (p.Thr93Lys)
NM_000077.5(CDKN2A):c.278C>G (p.Thr93Arg) rs876659723
NM_000077.5(CDKN2A):c.279G>T (p.Thr93=) rs2131094486
NM_000077.5(CDKN2A):c.27G>A (p.Met9Ile) rs1587340400
NM_000077.5(CDKN2A):c.280C>G (p.Leu94Val)
NM_000077.5(CDKN2A):c.284T>G (p.Val95Gly)
NM_000077.5(CDKN2A):c.285G>A (p.Val95=) rs1587331518
NM_000077.5(CDKN2A):c.286G>C (p.Val96Leu) rs1587331506
NM_000077.5(CDKN2A):c.286G>T (p.Val96Leu)
NM_000077.5(CDKN2A):c.288G>A (p.Val96=) rs557319056
NM_000077.5(CDKN2A):c.28G>A (p.Glu10Lys)
NM_000077.5(CDKN2A):c.290T>C (p.Leu97Pro) rs1819702487
NM_000077.5(CDKN2A):c.291G>C (p.Leu97=) rs1587331492
NM_000077.5(CDKN2A):c.292C>T (p.His98Tyr) rs1064793953
NM_000077.5(CDKN2A):c.293A>G (p.His98Arg)
NM_000077.5(CDKN2A):c.294C>T (p.His98=) rs752685118
NM_000077.5(CDKN2A):c.295C>A (p.Arg99=) rs34886500
NM_000077.5(CDKN2A):c.295C>G (p.Arg99Gly) rs34886500
NM_000077.5(CDKN2A):c.295C>T (p.Arg99Trp) rs34886500
NM_000077.5(CDKN2A):c.296G>A (p.Arg99Gln) rs754806883
NM_000077.5(CDKN2A):c.296G>T (p.Arg99Leu)
NM_000077.5(CDKN2A):c.2T>C (p.Met1Thr) rs759871071
NM_000077.5(CDKN2A):c.2T>G (p.Met1Arg) rs759871071
NM_000077.5(CDKN2A):c.301G>C (p.Gly101Arg) rs104894094
NM_000077.5(CDKN2A):c.302G>C (p.Gly101Ala) rs750414596
NM_000077.5(CDKN2A):c.303G>T (p.Gly101=) rs1554654044
NM_000077.5(CDKN2A):c.304G>A (p.Ala102Thr) rs35741010
NM_000077.5(CDKN2A):c.305C>A (p.Ala102Glu) rs137854598
NM_000077.5(CDKN2A):c.305C>T (p.Ala102Val) rs137854598
NM_000077.5(CDKN2A):c.306G>T (p.Ala102=) rs1064794863
NM_000077.5(CDKN2A):c.308G>A (p.Arg103Gln) rs143282362
NM_000077.5(CDKN2A):c.308G>C (p.Arg103Pro) rs143282362
NM_000077.5(CDKN2A):c.311T>C (p.Leu104Pro) rs1819698963
NM_000077.5(CDKN2A):c.313G>A (p.Asp105Asn) rs774829510
NM_000077.5(CDKN2A):c.315C>T (p.Asp105=) rs763269347
NM_000077.5(CDKN2A):c.316G>A (p.Val106Met) rs775860099
NM_000077.5(CDKN2A):c.316G>T (p.Val106Leu)
NM_000077.5(CDKN2A):c.317T>A (p.Val106Glu) rs1554654028
NM_000077.5(CDKN2A):c.317T>C (p.Val106Ala) rs1554654028
NM_000077.5(CDKN2A):c.319C>A (p.Arg107Ser) rs1554654024
NM_000077.5(CDKN2A):c.319C>T (p.Arg107Cys) rs1554654024
NM_000077.5(CDKN2A):c.31C>A (p.Pro11Thr) rs1587340371
NM_000077.5(CDKN2A):c.31C>G (p.Pro11Ala) rs1587340371
NM_000077.5(CDKN2A):c.320G>C (p.Arg107Pro) rs370823171
NM_000077.5(CDKN2A):c.320_321delinsTT (p.Arg107Leu) rs1819698005
NM_000077.5(CDKN2A):c.322G>T (p.Asp108Tyr) rs121913381
NM_000077.5(CDKN2A):c.323A>T (p.Asp108Val)
NM_000077.5(CDKN2A):c.324T>A (p.Asp108Glu) rs2131093707
NM_000077.5(CDKN2A):c.325G>T (p.Ala109Ser) rs372481694
NM_000077.5(CDKN2A):c.326C>A (p.Ala109Asp) rs1064794838
NM_000077.5(CDKN2A):c.328T>A (p.Trp110Arg) rs747717236
NM_000077.5(CDKN2A):c.328T>C (p.Trp110Arg)
NM_000077.5(CDKN2A):c.331G>A (p.Gly111Ser) rs778971134
NM_000077.5(CDKN2A):c.332G>A (p.Gly111Asp) rs2131093568
NM_000077.5(CDKN2A):c.332G>T (p.Gly111Val) rs2131093568
NM_000077.5(CDKN2A):c.334C>A (p.Arg112Ser)
NM_000077.5(CDKN2A):c.334C>T (p.Arg112Cys)
NM_000077.5(CDKN2A):c.335G>A (p.Arg112His) rs587782797
NM_000077.5(CDKN2A):c.338T>C (p.Leu113Pro) rs1819695317
NM_000077.5(CDKN2A):c.339G>A (p.Leu113=) rs575031539
NM_000077.5(CDKN2A):c.339_340delinsCT (p.Pro114Ser) rs387906410
NM_000077.5(CDKN2A):c.340C>A (p.Pro114Thr) rs104894104
NM_000077.5(CDKN2A):c.340C>T (p.Pro114Ser) rs104894104
NM_000077.5(CDKN2A):c.341C>T (p.Pro114Leu) rs121913386
NM_000077.5(CDKN2A):c.343G>A (p.Val115Met) rs779913365
NM_000077.5(CDKN2A):c.343G>C (p.Val115Leu)
NM_000077.5(CDKN2A):c.344T>G (p.Val115Gly) rs750655995
NM_000077.5(CDKN2A):c.345G>A (p.Val115=) rs1819693631
NM_000077.5(CDKN2A):c.348C>A (p.Asp116Glu) rs995881157
NM_000077.5(CDKN2A):c.349C>T (p.Leu117=) rs767692456
NM_000077.5(CDKN2A):c.34T>G (p.Ser12Ala) rs2131113779
NM_000077.5(CDKN2A):c.350T>C (p.Leu117Pro) rs1819693018
NM_000077.5(CDKN2A):c.351G>A (p.Leu117=) rs1060504182
NM_000077.5(CDKN2A):c.353C>T (p.Ala118Val) rs1060501270
NM_000077.5(CDKN2A):c.355G>A (p.Glu119Lys) rs1563888963
NM_000077.5(CDKN2A):c.355GAG[3] (p.Glu120dup) rs1554653952
NM_000077.5(CDKN2A):c.35C>G (p.Ser12Trp) rs141798398
NM_000077.5(CDKN2A):c.35C>T (p.Ser12Leu) rs141798398
NM_000077.5(CDKN2A):c.361C>G (p.Leu121Val) rs142371511
NM_000077.5(CDKN2A):c.362T>C (p.Leu121Pro) rs1162584542
NM_000077.5(CDKN2A):c.362T>G (p.Leu121Arg)
NM_000077.5(CDKN2A):c.364G>A (p.Gly122Ser) rs113798404
NM_000077.5(CDKN2A):c.364G>C (p.Gly122Arg) rs113798404
NM_000077.5(CDKN2A):c.367C>T (p.His123Tyr)
NM_000077.5(CDKN2A):c.370C>G (p.Arg124Gly) rs34170727
NM_000077.5(CDKN2A):c.370C>T (p.Arg124Cys) rs34170727
NM_000077.5(CDKN2A):c.373G>A (p.Asp125Asn) rs146179135
NM_000077.5(CDKN2A):c.374A>G (p.Asp125Gly) rs1408195053
NM_000077.5(CDKN2A):c.376G>C (p.Val126Leu) rs1350305259
NM_000077.5(CDKN2A):c.379G>C (p.Ala127Pro) rs6413464
NM_000077.5(CDKN2A):c.37G>T (p.Ala13Ser) rs1416122398
NM_000077.5(CDKN2A):c.380C>T (p.Ala127Val)
NM_000077.5(CDKN2A):c.382C>T (p.Arg128Trp) rs1563888826
NM_000077.5(CDKN2A):c.383G>C (p.Arg128Pro) rs971657556
NM_000077.5(CDKN2A):c.385T>C (p.Tyr129His)
NM_000077.5(CDKN2A):c.388C>A (p.Leu130Met) rs1060501261
NM_000077.5(CDKN2A):c.389T>A (p.Leu130Gln)
NM_000077.5(CDKN2A):c.38C>A (p.Ala13Asp) rs745612549
NM_000077.5(CDKN2A):c.38C>T (p.Ala13Val) rs745612549
NM_000077.5(CDKN2A):c.391C>A (p.Arg131Ser) rs755927351
NM_000077.5(CDKN2A):c.391C>T (p.Arg131Cys) rs755927351
NM_000077.5(CDKN2A):c.392G>A (p.Arg131His) rs1563888782
NM_000077.5(CDKN2A):c.394G>A (p.Ala132Thr) rs2131092506
NM_000077.5(CDKN2A):c.395C>T (p.Ala132Val) rs1413479756
NM_000077.5(CDKN2A):c.397G>A (p.Ala133Thr) rs1201199303
NM_000077.5(CDKN2A):c.397G>T (p.Ala133Ser) rs1201199303
NM_000077.5(CDKN2A):c.400G>T (p.Ala134Ser) rs372599739
NM_000077.5(CDKN2A):c.401C>T (p.Ala134Val) rs757497674
NM_000077.5(CDKN2A):c.402G>A (p.Ala134=) rs878853649
NM_000077.5(CDKN2A):c.403G>T (p.Gly135Trp) rs1819686306
NM_000077.5(CDKN2A):c.404G>C (p.Gly135Ala) rs1182554152
NM_000077.5(CDKN2A):c.404G>T (p.Gly135Val) rs1182554152
NM_000077.5(CDKN2A):c.407del (p.Gly136fs) rs749588877
NM_000077.5(CDKN2A):c.407dup (p.Thr137fs) rs749588877
NM_000077.5(CDKN2A):c.413G>A (p.Arg138Lys) rs1819684763
NM_000077.5(CDKN2A):c.413G>C (p.Arg138Thr)
NM_000077.5(CDKN2A):c.415G>A (p.Gly139Ser) rs587781733
NM_000077.5(CDKN2A):c.416G>T (p.Gly139Val)
NM_000077.5(CDKN2A):c.418A>C (p.Ser140Arg) rs1587330504
NM_000077.5(CDKN2A):c.41A>G (p.Asp14Gly) rs2131113670
NM_000077.5(CDKN2A):c.423C>A (p.Asn141Lys) rs1819683853
NM_000077.5(CDKN2A):c.424C>G (p.His142Asp) rs1587330478
NM_000077.5(CDKN2A):c.428C>G (p.Ala143Gly) rs767149947
NM_000077.5(CDKN2A):c.42C>A (p.Asp14Glu) rs1819961127
NM_000077.5(CDKN2A):c.42C>G (p.Asp14Glu) rs1819961127
NM_000077.5(CDKN2A):c.430C>G (p.Arg144Gly) rs116150891
NM_000077.5(CDKN2A):c.431G>A (p.Arg144His) rs1060501274
NM_000077.5(CDKN2A):c.431G>C (p.Arg144Pro) rs1060501274
NM_000077.5(CDKN2A):c.431G>T (p.Arg144Leu) rs1060501274
NM_000077.5(CDKN2A):c.433A>G (p.Ile145Val) rs1587330426
NM_000077.5(CDKN2A):c.434T>A (p.Ile145Lys) rs730881680
NM_000077.5(CDKN2A):c.434T>C (p.Ile145Thr) rs730881680
NM_000077.5(CDKN2A):c.436G>A (p.Asp146Asn) rs1563888589
NM_000077.5(CDKN2A):c.436G>T (p.Asp146Tyr)
NM_000077.5(CDKN2A):c.438T>G (p.Asp146Glu)
NM_000077.5(CDKN2A):c.442G>C (p.Ala148Pro) rs3731249
NM_000077.5(CDKN2A):c.442G>T (p.Ala148Ser) rs3731249
NM_000077.5(CDKN2A):c.448G>T (p.Gly150Cys)
NM_000077.5(CDKN2A):c.44_46dup (p.Trp15_Leu16insArg) rs730881672
NM_000077.5(CDKN2A):c.455del (p.Pro151_Ser152insTer)
NM_000077.5(CDKN2A):c.456A>G (p.Ser152=) rs2131091484
NM_000077.5(CDKN2A):c.457+1G>T rs1587330312
NM_000077.5(CDKN2A):c.457+1_457+10del rs1587330284
NM_000077.5(CDKN2A):c.457+2T>G rs1587330309
NM_000077.5(CDKN2A):c.457+3G>A rs1206827598
NM_000077.5(CDKN2A):c.457+3G>T
NM_000077.5(CDKN2A):c.457+5G>T
NM_000077.5(CDKN2A):c.457G>A (p.Asp153Asn) rs45476696
NM_000077.5(CDKN2A):c.457G>C (p.Asp153His)
NM_000077.5(CDKN2A):c.458-14T>G
NM_000077.5(CDKN2A):c.458-2A>G rs1587325266
NM_000077.5(CDKN2A):c.458-3C>A
NM_000077.5(CDKN2A):c.458A>G (p.Asp153Gly) rs1060501272
NM_000077.5(CDKN2A):c.458A>T (p.Asp153Val) rs1060501272
NM_000077.5(CDKN2A):c.45G>T (p.Trp15Cys) rs138677674
NM_000077.5(CDKN2A):c.460del (p.Ile154fs) rs2131079518
NM_000077.5(CDKN2A):c.461T>A (p.Ile154Asn) rs1554653284
NM_000077.5(CDKN2A):c.463C>G (p.Pro155Ala) rs1060501271
NM_000077.5(CDKN2A):c.464C>G (p.Pro155Arg) rs1162344499
NM_000077.5(CDKN2A):c.466G>A (p.Asp156Asn) rs755445934
NM_000077.5(CDKN2A):c.466G>T (p.Asp156Tyr) rs755445934
NM_000077.5(CDKN2A):c.470G>T (p.Ter157Leu)
NM_000077.5(CDKN2A):c.47T>A (p.Leu16Gln) rs864622263
NM_000077.5(CDKN2A):c.50C>T (p.Ala17Val) rs751809654
NM_000077.5(CDKN2A):c.52A>G (p.Thr18Ala) rs758455611
NM_000077.5(CDKN2A):c.52_57dup (p.Thr18_Ala19dup) rs1563892769
NM_000077.5(CDKN2A):c.53C>A (p.Thr18Lys) rs560518923
NM_000077.5(CDKN2A):c.53C>T (p.Thr18Met) rs560518923
NM_000077.5(CDKN2A):c.55G>T (p.Ala19Ser) rs1819957749
NM_000077.5(CDKN2A):c.58G>A (p.Ala20Thr) rs760065045
NM_000077.5(CDKN2A):c.58G>C (p.Ala20Pro) rs760065045
NM_000077.5(CDKN2A):c.58G>T (p.Ala20Ser) rs760065045
NM_000077.5(CDKN2A):c.59C>A (p.Ala20Glu)
NM_000077.5(CDKN2A):c.59C>G (p.Ala20Gly) rs864622484
NM_000077.5(CDKN2A):c.59C>T (p.Ala20Val) rs864622484
NM_000077.5(CDKN2A):c.61G>A (p.Ala21Thr) rs1064793082
NM_000077.5(CDKN2A):c.62C>A (p.Ala21Asp) rs1329324238
NM_000077.5(CDKN2A):c.62C>T (p.Ala21Val) rs1329324238
NM_000077.5(CDKN2A):c.64C>G (p.Arg22Gly) rs374921006
NM_000077.5(CDKN2A):c.64C>T (p.Arg22Trp) rs374921006
NM_000077.5(CDKN2A):c.65G>A (p.Arg22Gln) rs1554656491
NM_000077.5(CDKN2A):c.65G>T (p.Arg22Leu) rs1554656491
NM_000077.5(CDKN2A):c.6G>C (p.Glu2Asp)
NM_000077.5(CDKN2A):c.70C>G (p.Arg24Gly) rs761014328
NM_000077.5(CDKN2A):c.71G>A (p.Arg24Gln) rs104894097
NM_000077.5(CDKN2A):c.71G>T (p.Arg24Leu) rs104894097
NM_000077.5(CDKN2A):c.73G>A (p.Val25Ile) rs2131113089
NM_000077.5(CDKN2A):c.73G>T (p.Val25Leu) rs2131113089
NM_000077.5(CDKN2A):c.77A>C (p.Glu26Ala)
NM_000077.5(CDKN2A):c.80A>G (p.Glu27Gly) rs1554656403
NM_000077.5(CDKN2A):c.82G>A (p.Val28Met) rs876658895
NM_000077.5(CDKN2A):c.85C>A (p.Arg29=) rs1554656382
NM_000077.5(CDKN2A):c.85C>T (p.Arg29Trp) rs1554656382
NM_000077.5(CDKN2A):c.86G>A (p.Arg29Gln)
NM_000077.5(CDKN2A):c.86G>C (p.Arg29Pro) rs1819952993
NM_000077.5(CDKN2A):c.86G>T (p.Arg29Leu)
NM_000077.5(CDKN2A):c.89C>T (p.Ala30Val) rs879254078
NM_000077.5(CDKN2A):c.8C>T (p.Pro3Leu) rs1819968085
NM_000077.5(CDKN2A):c.8CGG[1] (p.Ala4_Ala5del) rs1064793970
NM_000077.5(CDKN2A):c.95_112dup (p.Leu32_Leu37dup) rs1819949737
NM_000077.5(CDKN2A):c.97G>A (p.Glu33Lys)
NM_000077.5(CDKN2A):c.98A>G (p.Glu33Gly)
NM_000077.5(CDKN2A):c.98A>T (p.Glu33Val)
NM_005981.5(TSPAN31):c.*1230A>G rs786204045
NM_005981.5(TSPAN31):c.*1330G>A rs2140381305
NM_005981.5(TSPAN31):c.*1335del rs1555201035
NM_005981.5(TSPAN31):c.*1873C>T
NM_058195.4(CDKN2A):c.103G>C (p.Ala35Pro) rs1473253589
NM_058195.4(CDKN2A):c.104C>T (p.Ala35Val) rs2131148491
NM_058195.4(CDKN2A):c.106G>C (p.Ala36Pro) rs1587358428
NM_058195.4(CDKN2A):c.107C>T (p.Ala36Val) rs1396662899
NM_058195.4(CDKN2A):c.110C>G (p.Pro37Arg) rs1361441265
NM_058195.4(CDKN2A):c.112G>A (p.Gly38Arg) rs1346248530
NM_058195.4(CDKN2A):c.112G>C (p.Gly38Arg) rs1346248530
NM_058195.4(CDKN2A):c.113G>A (p.Gly38Glu) rs1563902798
NM_058195.4(CDKN2A):c.119C>T (p.Pro40Leu) rs1587358382
NM_058195.4(CDKN2A):c.11G>A (p.Arg4Lys) rs149063626
NM_058195.4(CDKN2A):c.124G>A (p.Ala42Thr) rs905621048
NM_058195.4(CDKN2A):c.124G>T (p.Ala42Ser) rs905621048
NM_058195.4(CDKN2A):c.127G>C (p.Val43Leu) rs1820529552
NM_058195.4(CDKN2A):c.128T>C (p.Val43Ala) rs2131148286
NM_058195.4(CDKN2A):c.131C>T (p.Ala44Val) rs1261184323
NM_058195.4(CDKN2A):c.133C>A (p.Leu45Ile) rs1554659193
NM_058195.4(CDKN2A):c.133C>G (p.Leu45Val) rs1554659193
NM_058195.4(CDKN2A):c.135C>A (p.Leu45=) rs766676234
NM_058195.4(CDKN2A):c.136G>C (p.Val46Leu) rs786203467
NM_058195.4(CDKN2A):c.140T>C (p.Leu47Pro) rs2131148222
NM_058195.4(CDKN2A):c.144G>C (p.Met48Ile) rs1820528469
NM_058195.4(CDKN2A):c.149T>G (p.Leu50Arg) rs1554659181
NM_058195.4(CDKN2A):c.14T>A (p.Phe5Tyr) rs2131149044
NM_058195.4(CDKN2A):c.14T>C (p.Phe5Ser) rs2131149044
NM_058195.4(CDKN2A):c.154A>G (p.Ser52Gly) rs1587358275
NM_058195.4(CDKN2A):c.158A>G (p.Gln53Arg) rs772048734
NM_058195.4(CDKN2A):c.15C>G (p.Phe5Leu) rs1587358694
NM_058195.4(CDKN2A):c.15_17del (p.Phe5del) rs1587358674
NM_058195.4(CDKN2A):c.160C>T (p.Arg54Cys) rs896054565
NM_058195.4(CDKN2A):c.163C>G (p.Leu55Val) rs1820527497
NM_058195.4(CDKN2A):c.166G>A (p.Gly56Arg) rs1820527345
NM_058195.4(CDKN2A):c.170A>G (p.Gln57Arg) rs774711850
NM_058195.4(CDKN2A):c.176C>T (p.Pro59Leu) rs1477583857
NM_058195.4(CDKN2A):c.178C>A (p.Leu60Ile) rs769257927
NM_058195.4(CDKN2A):c.181C>T (p.Pro61Ser) rs1587358229
NM_058195.4(CDKN2A):c.182C>G (p.Pro61Arg) rs1820526529
NM_058195.4(CDKN2A):c.182C>T (p.Pro61Leu) rs1820526529
NM_058195.4(CDKN2A):c.185G>T (p.Arg62Ile) rs1369774700
NM_058195.4(CDKN2A):c.188G>A (p.Arg63Lys) rs780425629
NM_058195.4(CDKN2A):c.188G>T (p.Arg63Ile) rs780425629
NM_058195.4(CDKN2A):c.18G>C (p.Leu6Phe) rs1820537175
NM_058195.4(CDKN2A):c.191C>A (p.Pro64Gln) rs1348413029
NM_058195.4(CDKN2A):c.191C>G (p.Pro64Arg) rs1348413029
NM_058195.4(CDKN2A):c.191C>T (p.Pro64Leu) rs1348413029
NM_058195.4(CDKN2A):c.192A>G (p.Pro64=) rs1554659172
NM_058195.4(CDKN2A):c.192A>T (p.Pro64=) rs1554659172
NM_058195.4(CDKN2A):c.193+3A>C rs2131147939
NM_058195.4(CDKN2A):c.193+4G>A rs2131147933
NM_058195.4(CDKN2A):c.193+6A>T rs2131147918
NM_058195.4(CDKN2A):c.1A>G (p.Met1Val) rs1820538394
NM_058195.4(CDKN2A):c.20T>C (p.Val7Ala) rs771335991
NM_058195.4(CDKN2A):c.22A>G (p.Thr8Ala) rs1820536864
NM_058195.4(CDKN2A):c.22A>T (p.Thr8Ser) rs1820536864
NM_058195.4(CDKN2A):c.23C>G (p.Thr8Ser) rs1820536698
NM_058195.4(CDKN2A):c.26T>C (p.Leu9Pro) rs876659353
NM_058195.4(CDKN2A):c.28C>G (p.Arg10Gly) rs1554659242
NM_058195.4(CDKN2A):c.32T>G (p.Ile11Ser) rs1820535713
NM_058195.4(CDKN2A):c.34C>G (p.Arg12Gly) rs1587358659
NM_058195.4(CDKN2A):c.37C>T (p.Arg13Cys) rs1389587108
NM_058195.4(CDKN2A):c.3G>A (p.Met1Ile) rs1820538211
NM_058195.4(CDKN2A):c.3G>C (p.Met1Ile) rs1820538211
NM_058195.4(CDKN2A):c.40G>A (p.Ala14Thr) rs1241364288
NM_058195.4(CDKN2A):c.40G>C (p.Ala14Pro) rs1241364288
NM_058195.4(CDKN2A):c.43T>C (p.Cys15Arg) rs1554659236
NM_058195.4(CDKN2A):c.46G>C (p.Gly16Arg) rs773459232
NM_058195.4(CDKN2A):c.47G>T (p.Gly16Val) rs1444669684
NM_058195.4(CDKN2A):c.48C>T (p.Gly16=) rs786202556
NM_058195.4(CDKN2A):c.4G>A (p.Val2Met) rs1820538120
NM_058195.4(CDKN2A):c.4G>T (p.Val2Leu) rs1820538120
NM_058195.4(CDKN2A):c.50C>A (p.Pro17Gln) rs1820534329
NM_058195.4(CDKN2A):c.50C>T (p.Pro17Leu) rs1820534329
NM_058195.4(CDKN2A):c.53C>A (p.Pro18Gln) rs1587358603
NM_058195.4(CDKN2A):c.53C>G (p.Pro18Arg) rs1587358603
NM_058195.4(CDKN2A):c.53C>T (p.Pro18Leu) rs1587358603
NM_058195.4(CDKN2A):c.56G>A (p.Arg19Gln) rs748616717
NM_058195.4(CDKN2A):c.76C>T (p.His26Tyr) rs1820533255
NM_058195.4(CDKN2A):c.7C>A (p.Arg3Ser) rs1554659249
NM_058195.4(CDKN2A):c.7C>T (p.Arg3Cys) rs1554659249
NM_058195.4(CDKN2A):c.81C>G (p.Ile27Met) rs1413839473
NM_058195.4(CDKN2A):c.83C>G (p.Pro28Arg) rs1282190742
NM_058195.4(CDKN2A):c.83C>T (p.Pro28Leu) rs1282190742
NM_058195.4(CDKN2A):c.88C>T (p.Leu30Phe) rs2131148620
NM_058195.4(CDKN2A):c.8G>A (p.Arg3His) rs1820537912
NM_058195.4(CDKN2A):c.92C>T (p.Thr31Met) rs528789830
NM_058195.4(CDKN2A):c.94G>C (p.Gly32Arg) rs879254043
NM_058195.4(CDKN2A):c.95G>A (p.Gly32Glu) rs370655358
NM_058195.4(CDKN2A):c.98A>G (p.Glu33Gly) rs1820531368

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