NM_002386.4(MC1R):c.942A>G (p.Thr314=)
|
rs2228478
|
0.20949
|
NM_002386.4(MC1R):c.488G>A (p.Arg163Gln)
|
rs885479
|
0.08396
|
NM_002386.4(MC1R):c.178G>T (p.Val60Leu)
|
rs1805005
|
0.08197
|
NM_002386.4(MC1R):c.274G>A (p.Val92Met)
|
rs2228479
|
0.06520
|
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp)
|
rs1805008
|
0.04851
|
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys)
|
rs1805007
|
0.04832
|
NM_002386.4(MC1R):c.900C>T (p.Phe300=)
|
rs3212367
|
0.01887
|
NM_002386.4(MC1R):c.318G>A (p.Leu106=)
|
rs3212364
|
0.01163
|
NM_002386.4(MC1R):c.880G>C (p.Asp294His)
|
rs1805009
|
0.01121
|
NM_002386.4(MC1R):c.586T>C (p.Phe196Leu)
|
rs3212366
|
0.00938
|
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr)
|
rs1110400
|
0.00675
|
NM_002386.4(MC1R):c.252C>A (p.Asp84Glu)
|
rs1805006
|
0.00553
|
NM_002386.4(MC1R):c.425G>A (p.Arg142His)
|
rs11547464
|
0.00480
|
NM_002386.4(MC1R):c.466G>C (p.Val156Leu)
|
rs3212365
|
0.00443
|
NM_002386.4(MC1R):c.948C>T (p.Ser316=)
|
rs151318945
|
0.00223
|
NM_002386.4(MC1R):c.699G>A (p.Gln233=)
|
rs146544450
|
0.00218
|
NM_002386.4(MC1R):c.792C>T (p.Ile264=)
|
rs181269865
|
0.00205
|
NM_002386.4(MC1R):c.531G>A (p.Thr177=)
|
rs145781072
|
0.00148
|
NM_002386.4(MC1R):c.819C>T (p.Cys273=)
|
rs375813196
|
0.00148
|
NM_002386.4(MC1R):c.67C>T (p.Gln23Ter)
|
rs201533137
|
0.00144
|
NM_002386.4(MC1R):c.399C>T (p.Cys133=)
|
rs201429598
|
0.00105
|
NM_002386.4(MC1R):c.359T>C (p.Ile120Thr)
|
rs33932559
|
0.00103
|
NM_002386.4(MC1R):c.309C>T (p.Ala103=)
|
rs140650544
|
0.00087
|
NM_002386.4(MC1R):c.453C>G (p.Arg151=)
|
rs201827012
|
0.00079
|
NM_002386.4(MC1R):c.247T>C (p.Ser83Pro)
|
rs34474212
|
0.00069
|
NM_002386.4(MC1R):c.537dup (p.Ile180fs)
|
rs555179612
|
0.00067
|
NM_002386.4(MC1R):c.637C>T (p.Arg213Trp)
|
rs200000734
|
0.00066
|
NM_002386.4(MC1R):c.633G>A (p.Leu211=)
|
rs34564466
|
0.00061
|
NM_002386.4(MC1R):c.284C>T (p.Thr95Met)
|
rs34158934
|
0.00056
|
NM_002386.4(MC1R):c.456C>A (p.Tyr152Ter)
|
rs201326893
|
0.00056
|
NM_002386.4(MC1R):c.842A>G (p.Asn281Ser)
|
rs141177570
|
0.00050
|
NM_002386.4(MC1R):c.364G>A (p.Val122Met)
|
rs201192930
|
0.00048
|
NM_002386.4(MC1R):c.140G>T (p.Ser47Ile)
|
rs371156858
|
0.00044
|
NM_002386.4(MC1R):c.112G>A (p.Val38Met)
|
rs200050206
|
0.00040
|
NM_002386.4(MC1R):c.133T>C (p.Phe45Leu)
|
rs61996344
|
0.00039
|
NM_002386.4(MC1R):c.401T>C (p.Phe134Ser)
|
rs564161331
|
0.00039
|
NM_002386.4(MC1R):c.555C>T (p.His185=)
|
rs199920775
|
0.00030
|
NM_002386.4(MC1R):c.333G>A (p.Ala111=)
|
rs368745976
|
0.00028
|
NM_002386.4(MC1R):c.652G>A (p.Ala218Thr)
|
rs200965363
|
0.00025
|
NM_002386.4(MC1R):c.127G>A (p.Gly43Arg)
|
rs564999211
|
0.00024
|
NM_002386.4(MC1R):c.200G>A (p.Arg67Gln)
|
rs34090186
|
0.00024
|
NM_002386.4(MC1R):c.832A>G (p.Lys278Glu)
|
rs201171524
|
0.00023
|
NM_002386.4(MC1R):c.332C>T (p.Ala111Val)
|
rs201489928
|
0.00021
|
NM_002386.4(MC1R):c.363C>G (p.Asp121Glu)
|
rs200616835
|
0.00019
|
NM_002386.4(MC1R):c.512C>G (p.Ala171Gly)
|
rs373224783
|
0.00019
|
NM_002386.4(MC1R):c.546C>T (p.Tyr182=)
|
rs370040645
|
0.00019
|
NM_002386.4(MC1R):c.190G>A (p.Ala64Thr)
|
rs368501338
|
0.00018
|
NM_002386.4(MC1R):c.492C>T (p.Ala164=)
|
rs367985661
|
0.00016
|
NM_002386.4(MC1R):c.895G>A (p.Ala299Thr)
|
rs370472871
|
0.00016
|
NM_002386.4(MC1R):c.917G>A (p.Arg306His)
|
rs368507952
|
0.00016
|
NM_002386.4(MC1R):c.444C>T (p.Tyr148=)
|
rs370441592
|
0.00014
|
NM_002386.4(MC1R):c.837C>A (p.Asn279Lys)
|
rs202197434
|
0.00014
|
NM_002386.4(MC1R):c.894C>T (p.Tyr298=)
|
rs143395134
|
0.00014
|
NM_002386.4(MC1R):c.102G>C (p.Arg34=)
|
rs758135673
|
0.00013
|
NM_002386.4(MC1R):c.497C>G (p.Ala166Gly)
|
rs35040147
|
0.00013
|
NM_002386.4(MC1R):c.717C>T (p.Gly239=)
|
rs34490506
|
0.00012
|
NM_002386.4(MC1R):c.515G>T (p.Ser172Ile)
|
rs376670171
|
0.00011
|
NM_002386.4(MC1R):c.577G>A (p.Val193Met)
|
rs527673999
|
0.00011
|
NM_002386.4(MC1R):c.803C>G (p.Pro268Arg)
|
rs527697723
|
0.00010
|
NM_002386.4(MC1R):c.861C>G (p.Ile287Met)
|
rs373957223
|
0.00010
|
NM_002386.4(MC1R):c.392G>A (p.Ser131Asn)
|
rs370094672
|
0.00009
|
NM_002386.4(MC1R):c.414C>T (p.Ile138=)
|
rs377411334
|
0.00009
|
NM_002386.4(MC1R):c.498G>A (p.Ala166=)
|
rs374959395
|
0.00008
|
NM_002386.4(MC1R):c.766C>T (p.Pro256Ser)
|
rs200215218
|
0.00008
|
NM_002386.4(MC1R):c.445G>A (p.Ala149Thr)
|
rs374423188
|
0.00007
|
NM_002386.4(MC1R):c.467T>C (p.Val156Ala)
|
rs201975178
|
0.00007
|
NM_002386.4(MC1R):c.476C>T (p.Pro159Leu)
|
rs779593625
|
0.00007
|
NM_002386.4(MC1R):c.56C>T (p.Thr19Ile)
|
rs372041071
|
0.00007
|
NM_002386.4(MC1R):c.725C>T (p.Thr242Ile)
|
rs200051702
|
0.00007
|
NM_002386.4(MC1R):c.168C>T (p.Asn56=)
|
rs373707533
|
0.00006
|
NM_002386.4(MC1R):c.310G>A (p.Gly104Ser)
|
rs2229617
|
0.00006
|
NM_002386.4(MC1R):c.325C>T (p.Arg109Trp)
|
rs546618600
|
0.00006
|
NM_002386.4(MC1R):c.383T>C (p.Met128Thr)
|
rs374235260
|
0.00006
|
NM_002386.4(MC1R):c.424C>T (p.Arg142Cys)
|
rs752927306
|
0.00006
|
NM_002386.4(MC1R):c.483G>A (p.Ala161=)
|
rs541831292
|
0.00006
|
NM_002386.4(MC1R):c.582C>T (p.Val194=)
|
rs373597800
|
0.00006
|
NM_002386.4(MC1R):c.793G>A (p.Val265Ile)
|
rs587783376
|
0.00006
|
NM_002386.4(MC1R):c.479G>A (p.Arg160Gln)
|
rs780813746
|
0.00005
|
NM_002386.4(MC1R):c.640G>A (p.Ala214Thr)
|
rs752618291
|
0.00005
|
NM_002386.4(MC1R):c.689C>T (p.Pro230Leu)
|
rs368714912
|
0.00005
|
NM_002386.4(MC1R):c.787C>T (p.Leu263Phe)
|
rs370073863
|
0.00005
|
NM_002386.4(MC1R):c.860T>G (p.Ile287Ser)
|
rs753749977
|
0.00005
|
NM_002386.4(MC1R):c.944G>C (p.Cys315Ser)
|
rs377248188
|
0.00005
|
NM_002386.4(MC1R):c.101G>A (p.Arg34Gln)
|
rs369016553
|
0.00004
|
NM_002386.4(MC1R):c.126C>T (p.Asp42=)
|
rs373241401
|
0.00004
|
NM_002386.4(MC1R):c.171G>A (p.Ala57=)
|
rs774456071
|
0.00004
|
NM_002386.4(MC1R):c.241G>C (p.Ala81Pro)
|
rs772286882
|
0.00004
|
NM_002386.4(MC1R):c.248C>T (p.Ser83Leu)
|
rs777024553
|
0.00004
|
NM_002386.4(MC1R):c.249G>A (p.Ser83=)
|
rs375562624
|
0.00004
|
NM_002386.4(MC1R):c.285G>A (p.Thr95=)
|
rs573416648
|
0.00004
|
NM_002386.4(MC1R):c.294C>T (p.Ile98=)
|
rs373401179
|
0.00004
|
NM_002386.4(MC1R):c.459C>T (p.His153=)
|
rs762670523
|
0.00004
|
NM_002386.4(MC1R):c.484C>T (p.Arg162Trp)
|
rs553516665
|
0.00004
|
NM_002386.4(MC1R):c.508G>A (p.Val170Met)
|
rs770551931
|
0.00004
|
NM_002386.4(MC1R):c.556G>A (p.Val186Met)
|
rs773260532
|
0.00004
|
NM_002386.4(MC1R):c.561C>T (p.Ala187=)
|
rs370306913
|
0.00004
|
NM_002386.4(MC1R):c.576C>G (p.Leu192=)
|
rs566784469
|
0.00004
|
NM_002386.4(MC1R):c.663C>T (p.Ile221=)
|
rs375672150
|
0.00004
|
NM_002386.4(MC1R):c.815_817dup (p.Thr272_Cys273insSer)
|
rs750200309
|
0.00004
|
NM_002386.4(MC1R):c.836A>G (p.Asn279Ser)
|
rs376692024
|
0.00004
|
NM_002386.4(MC1R):c.854C>G (p.Ala285Gly)
|
rs773094322
|
0.00004
|
NM_002386.4(MC1R):c.865T>C (p.Cys289Arg)
|
rs369542041
|
0.00004
|
NM_002386.4(MC1R):c.923C>T (p.Thr308Met)
|
rs375127718
|
0.00004
|
NM_002386.4(MC1R):c.945C>T (p.Cys315=)
|
rs1362807899
|
0.00004
|
NM_002386.4(MC1R):c.949T>C (p.Trp317Arg)
|
rs762063106
|
0.00004
|
NM_002386.4(MC1R):c.104G>A (p.Cys35Tyr)
|
rs779504604
|
0.00003
|
NM_002386.4(MC1R):c.199C>T (p.Arg67Trp)
|
rs372590533
|
0.00003
|
NM_002386.4(MC1R):c.219G>A (p.Met73Ile)
|
rs755918287
|
0.00003
|
NM_002386.4(MC1R):c.288C>T (p.Ala96=)
|
rs780284801
|
0.00003
|
NM_002386.4(MC1R):c.292A>G (p.Ile98Val)
|
rs373341896
|
0.00003
|
NM_002386.4(MC1R):c.418G>A (p.Val140Met)
|
rs376709880
|
0.00003
|
NM_002386.4(MC1R):c.465C>T (p.Ile155=)
|
rs374878766
|
0.00003
|
NM_002386.4(MC1R):c.482C>T (p.Ala161Val)
|
rs574552620
|
0.00003
|
NM_002386.4(MC1R):c.520G>A (p.Val174Ile)
|
rs762183931
|
0.00003
|
NM_002386.4(MC1R):c.550G>A (p.Asp184Asn)
|
rs530102853
|
0.00003
|
NM_002386.4(MC1R):c.668G>A (p.Arg223Gln)
|
rs769200898
|
0.00003
|
NM_002386.4(MC1R):c.828C>T (p.Ile276=)
|
rs1310618630
|
0.00003
|
NM_002386.4(MC1R):c.892T>C (p.Tyr298His)
|
rs772969877
|
0.00003
|
NM_002386.4(MC1R):c.100C>T (p.Arg34Trp)
|
rs376679503
|
0.00002
|
NM_002386.4(MC1R):c.152T>C (p.Val51Ala)
|
rs766080391
|
0.00002
|
NM_002386.4(MC1R):c.207G>A (p.Leu69=)
|
rs765848904
|
0.00002
|
NM_002386.4(MC1R):c.217A>G (p.Met73Val)
|
rs371458749
|
0.00002
|
NM_002386.4(MC1R):c.366G>A (p.Val122=)
|
rs372353477
|
0.00002
|
NM_002386.4(MC1R):c.477G>A (p.Pro159=)
|
rs750978167
|
0.00002
|
NM_002386.4(MC1R):c.496dup (p.Ala166fs)
|
rs780875127
|
0.00002
|
NM_002386.4(MC1R):c.510G>A (p.Val170=)
|
rs778831502
|
0.00002
|
NM_002386.4(MC1R):c.52C>G (p.Pro18Ala)
|
rs776654211
|
0.00002
|
NM_002386.4(MC1R):c.540C>T (p.Ile180=)
|
rs371055548
|
0.00002
|
NM_002386.4(MC1R):c.583T>G (p.Phe195Val)
|
rs377580634
|
0.00002
|
NM_002386.4(MC1R):c.686G>A (p.Arg229His)
|
rs376780075
|
0.00002
|
NM_002386.4(MC1R):c.690G>A (p.Pro230=)
|
rs752526626
|
0.00002
|
NM_002386.4(MC1R):c.729C>T (p.Leu243=)
|
rs369402699
|
0.00002
|
NM_002386.4(MC1R):c.764G>A (p.Gly255Asp)
|
rs760466103
|
0.00002
|
NM_002386.4(MC1R):c.820G>A (p.Gly274Ser)
|
rs748521098
|
0.00002
|
NM_002386.4(MC1R):c.869A>G (p.Asn290Ser)
|
rs373703770
|
0.00002
|
NM_002386.4(MC1R):c.896C>T (p.Ala299Val)
|
rs752932359
|
0.00002
|
NM_002386.4(MC1R):c.914T>G (p.Leu305Arg)
|
rs780650451
|
0.00002
|
NM_002386.4(MC1R):c.935T>C (p.Val312Ala)
|
rs745994833
|
0.00002
|
NM_002386.4(MC1R):c.123dup (p.Asp42Ter)
|
rs1567757953
|
0.00001
|
NM_002386.4(MC1R):c.143T>C (p.Leu48Pro)
|
rs201787533
|
0.00001
|
NM_002386.4(MC1R):c.150G>A (p.Leu50=)
|
rs372371887
|
0.00001
|
NM_002386.4(MC1R):c.159G>C (p.Leu53Phe)
|
rs754647280
|
0.00001
|
NM_002386.4(MC1R):c.169dup (p.Ala57fs)
|
rs746511891
|
0.00001
|
NM_002386.4(MC1R):c.193A>G (p.Lys65Glu)
|
rs1164849246
|
0.00001
|
NM_002386.4(MC1R):c.208C>T (p.His70Tyr)
|
rs377122753
|
0.00001
|
NM_002386.4(MC1R):c.213A>G (p.Ser71=)
|
rs767278343
|
0.00001
|
NM_002386.4(MC1R):c.223T>C (p.Cys75Arg)
|
rs963182706
|
0.00001
|
NM_002386.4(MC1R):c.23G>A (p.Arg8Lys)
|
rs554831935
|
0.00001
|
NM_002386.4(MC1R):c.255G>C (p.Leu85=)
|
rs1597414901
|
0.00001
|
NM_002386.4(MC1R):c.313G>A (p.Ala105Thr)
|
rs1376244060
|
0.00001
|
NM_002386.4(MC1R):c.334G>A (p.Val112Met)
|
rs750319061
|
0.00001
|
NM_002386.4(MC1R):c.357C>A (p.Val119=)
|
rs755222490
|
0.00001
|
NM_002386.4(MC1R):c.35G>A (p.Gly12Asp)
|
rs373990019
|
0.00001
|
NM_002386.4(MC1R):c.406G>T (p.Gly136Cys)
|
rs1209087043
|
0.00001
|
NM_002386.4(MC1R):c.415G>A (p.Ala139Thr)
|
rs765120108
|
0.00001
|
NM_002386.4(MC1R):c.423C>T (p.Asp141=)
|
rs755031236
|
0.00001
|
NM_002386.4(MC1R):c.470C>T (p.Thr157Ile)
|
rs104894524
|
0.00001
|
NM_002386.4(MC1R):c.48C>T (p.Ser16=)
|
rs1410997617
|
0.00001
|
NM_002386.4(MC1R):c.493G>A (p.Val165Ile)
|
rs762096175
|
0.00001
|
NM_002386.4(MC1R):c.549C>T (p.Tyr183=)
|
rs34209185
|
0.00001
|
NM_002386.4(MC1R):c.562G>A (p.Val188Ile)
|
rs774680166
|
0.00001
|
NM_002386.4(MC1R):c.598C>T (p.Leu200=)
|
rs879937669
|
0.00001
|
NM_002386.4(MC1R):c.612C>T (p.Ala204=)
|
rs773313328
|
0.00001
|
NM_002386.4(MC1R):c.613G>A (p.Val205Met)
|
rs749525002
|
0.00001
|
NM_002386.4(MC1R):c.615G>A (p.Val205=)
|
rs1385523658
|
0.00001
|
NM_002386.4(MC1R):c.623T>C (p.Val208Ala)
|
rs775798496
|
0.00001
|
NM_002386.4(MC1R):c.625C>T (p.His209Tyr)
|
rs761210287
|
0.00001
|
NM_002386.4(MC1R):c.638G>A (p.Arg213Gln)
|
rs781311501
|
0.00001
|
NM_002386.4(MC1R):c.653C>G (p.Ala218Gly)
|
rs749385653
|
0.00001
|
NM_002386.4(MC1R):c.662T>C (p.Ile221Thr)
|
rs371906898
|
0.00001
|
NM_002386.4(MC1R):c.664G>A (p.Ala222Thr)
|
rs369807854
|
0.00001
|
NM_002386.4(MC1R):c.66C>T (p.Pro22=)
|
rs773395822
|
0.00001
|
NM_002386.4(MC1R):c.670C>T (p.Leu224Phe)
|
rs772601310
|
0.00001
|
NM_002386.4(MC1R):c.687C>T (p.Arg229=)
|
rs372852841
|
0.00001
|
NM_002386.4(MC1R):c.718G>A (p.Ala240Thr)
|
rs778930648
|
0.00001
|
NM_002386.4(MC1R):c.726C>T (p.Thr242=)
|
rs780347303
|
0.00001
|
NM_002386.4(MC1R):c.727C>G (p.Leu243Val)
|
rs1414374650
|
0.00001
|
NM_002386.4(MC1R):c.755T>A (p.Leu252His)
|
rs767276470
|
0.00001
|
NM_002386.4(MC1R):c.761G>A (p.Trp254Ter)
|
rs924429375
|
0.00001
|
NM_002386.4(MC1R):c.768C>T (p.Pro256=)
|
rs757162834
|
0.00001
|
NM_002386.4(MC1R):c.76C>G (p.Leu26Val)
|
rs777400906
|
0.00001
|
NM_002386.4(MC1R):c.779A>T (p.His260Leu)
|
rs763065230
|
0.00001
|
NM_002386.4(MC1R):c.804C>T (p.Pro268=)
|
rs760209791
|
0.00001
|
NM_002386.4(MC1R):c.805G>A (p.Glu269Lys)
|
rs552512218
|
0.00001
|
NM_002386.4(MC1R):c.816G>A (p.Thr272=)
|
rs374760264
|
0.00001
|
NM_002386.4(MC1R):c.823T>C (p.Cys275Arg)
|
rs1398171215
|
0.00001
|
NM_002386.4(MC1R):c.852C>T (p.Leu284=)
|
rs550480383
|
0.00001
|
NM_002386.4(MC1R):c.853G>A (p.Ala285Thr)
|
rs914341120
|
0.00001
|
NM_002386.4(MC1R):c.879C>T (p.Ile293=)
|
rs779680061
|
0.00001
|
NM_002386.4(MC1R):c.897C>T (p.Ala299=)
|
rs760953265
|
0.00001
|
NM_002386.4(MC1R):c.898T>G (p.Phe300Val)
|
rs1413138979
|
0.00001
|
NM_002386.4(MC1R):c.916C>T (p.Arg306Cys)
|
rs747847234
|
0.00001
|
NM_002386.4(MC1R):c.924G>A (p.Thr308=)
|
rs748972076
|
0.00001
|
NM_002386.4(MC1R):c.925C>G (p.Leu309Val)
|
rs1360082988
|
0.00001
|
NM_002386.4(MC1R):c.951G>T (p.Trp317Cys)
|
rs765813858
|
0.00001
|
NC_000016.10:g.(?_89919259)_(89920212_?)del
|
|
|
NC_000016.9:g.(?_89986211)_89987210del
|
|
|
NM_002386.4(MC1R):c.-11_19del (p.Met1_Gln7del)
|
|
|
NM_002386.4(MC1R):c.104G>T (p.Cys35Phe)
|
rs779504604
|
|
NM_002386.4(MC1R):c.106C>G (p.Leu36Val)
|
|
|
NM_002386.4(MC1R):c.10C>T (p.Gln4Ter)
|
rs2045688422
|
|
NM_002386.4(MC1R):c.118A>C (p.Ile40Leu)
|
rs1555623738
|
|
NM_002386.4(MC1R):c.11A>T (p.Gln4Leu)
|
|
|
NM_002386.4(MC1R):c.120C>T (p.Ile40=)
|
rs1555623739
|
|
NM_002386.4(MC1R):c.122C>A (p.Ser41Tyr)
|
|
|
NM_002386.4(MC1R):c.122C>G (p.Ser41Cys)
|
|
|
NM_002386.4(MC1R):c.129G>C (p.Gly43=)
|
|
|
NM_002386.4(MC1R):c.135C>G (p.Phe45Leu)
|
|
|
NM_002386.4(MC1R):c.136C>T (p.Leu46Phe)
|
|
|
NM_002386.4(MC1R):c.146G>A (p.Gly49Glu)
|
rs764580616
|
|
NM_002386.4(MC1R):c.157T>C (p.Leu53=)
|
|
|
NM_002386.4(MC1R):c.158TGG[1] (p.Val54del)
|
|
|
NM_002386.4(MC1R):c.169G>A (p.Ala57Thr)
|
rs201632257
|
|
NM_002386.4(MC1R):c.175G>T (p.Val59Leu)
|
rs1410281892
|
|
NM_002386.4(MC1R):c.181G>A (p.Ala61Thr)
|
|
|
NM_002386.4(MC1R):c.185_193del (p.Thr62_Ala64del)
|
|
|
NM_002386.4(MC1R):c.188T>C (p.Ile63Thr)
|
rs2045691961
|
|
NM_002386.4(MC1R):c.189C>G (p.Ile63Met)
|
|
|
NM_002386.4(MC1R):c.190G>C (p.Ala64Pro)
|
rs368501338
|
|
NM_002386.4(MC1R):c.190_191insTGGAGAACGCGCTGGTGGTGGCCACCGTCG (p.Ile63_Ala64insValGluAsnAlaLeuValValAlaThrVal)
|
rs2045691984
|
|
NM_002386.4(MC1R):c.199C>A (p.Arg67=)
|
rs372590533
|
|
NM_002386.4(MC1R):c.205C>G (p.Leu69Val)
|
rs2144391217
|
|
NM_002386.4(MC1R):c.207G>C (p.Leu69=)
|
|
|
NM_002386.4(MC1R):c.209A>C (p.His70Pro)
|
|
|
NM_002386.4(MC1R):c.20A>G (p.Gln7Arg)
|
rs781549818
|
|
NM_002386.4(MC1R):c.210C>T (p.His70=)
|
|
|
NM_002386.4(MC1R):c.22AGA[1] (p.Arg9del)
|
|
|
NM_002386.4(MC1R):c.231C>G (p.Ile77Met)
|
|
|
NM_002386.4(MC1R):c.238C>T (p.Leu80=)
|
rs2144391307
|
|
NM_002386.4(MC1R):c.262A>G (p.Ser88Gly)
|
rs2144391372
|
|
NM_002386.4(MC1R):c.264C>T (p.Ser88=)
|
|
|
NM_002386.4(MC1R):c.265G>A (p.Gly89Arg)
|
rs34540312
|
|
NM_002386.4(MC1R):c.265G>C (p.Gly89Arg)
|
rs34540312
|
|
NM_002386.4(MC1R):c.267G>A (p.Gly89=)
|
|
|
NM_002386.4(MC1R):c.273_274delinsGA (p.Asn91_Val92delinsLysMet)
|
|
|
NM_002386.4(MC1R):c.284C>G (p.Thr95Arg)
|
|
|
NM_002386.4(MC1R):c.294CCT[1] (p.Leu101del)
|
rs754573808
|
|
NM_002386.4(MC1R):c.30_46del (p.Leu11fs)
|
|
|
NM_002386.4(MC1R):c.318G>T (p.Leu106=)
|
rs3212364
|
|
NM_002386.4(MC1R):c.319del (p.Val107fs)
|
rs2144391577
|
|
NM_002386.4(MC1R):c.323C>A (p.Ala108Asp)
|
|
|
NM_002386.4(MC1R):c.326G>A (p.Arg109Gln)
|
rs760458744
|
|
NM_002386.4(MC1R):c.330T>C (p.Ala110=)
|
rs377050541
|
|
NM_002386.4(MC1R):c.331G>A (p.Ala111Thr)
|
rs2144391623
|
|
NM_002386.4(MC1R):c.337C>T (p.Leu113=)
|
|
|
NM_002386.4(MC1R):c.348G>A (p.Leu116=)
|
|
|
NM_002386.4(MC1R):c.350A>G (p.Asp117Gly)
|
|
|
NM_002386.4(MC1R):c.357C>T (p.Val119=)
|
|
|
NM_002386.4(MC1R):c.363C>T (p.Asp121=)
|
rs200616835
|
|
NM_002386.4(MC1R):c.366G>C (p.Val122=)
|
|
|
NM_002386.4(MC1R):c.372C>G (p.Thr124=)
|
rs1362732149
|
|
NM_002386.4(MC1R):c.382A>G (p.Met128Val)
|
|
|
NM_002386.4(MC1R):c.389C>G (p.Ser130Cys)
|
rs377025135
|
|
NM_002386.4(MC1R):c.396C>T (p.Leu132=)
|
rs1060504133
|
|
NM_002386.4(MC1R):c.409G>A (p.Ala137Thr)
|
rs1484000912
|
|
NM_002386.4(MC1R):c.415G>T (p.Ala139Ser)
|
|
|
NM_002386.4(MC1R):c.416C>G (p.Ala139Gly)
|
rs1217897117
|
|
NM_002386.4(MC1R):c.417C>G (p.Ala139=)
|
rs372929572
|
|
NM_002386.4(MC1R):c.417C>T (p.Ala139=)
|
rs372929572
|
|
NM_002386.4(MC1R):c.422A>T (p.Asp141Val)
|
|
|
NM_002386.4(MC1R):c.424C>A (p.Arg142Ser)
|
rs752927306
|
|
NM_002386.4(MC1R):c.426C>G (p.Arg142=)
|
|
|
NM_002386.4(MC1R):c.438C>T (p.Ile146=)
|
|
|
NM_002386.4(MC1R):c.439T>C (p.Phe147Leu)
|
|
|
NM_002386.4(MC1R):c.44A>C (p.Asn15Thr)
|
rs771596986
|
|
NM_002386.4(MC1R):c.450G>C (p.Leu150=)
|
rs2045696881
|
|
NM_002386.4(MC1R):c.452G>A (p.Arg151His)
|
|
|
NM_002386.4(MC1R):c.45C>G (p.Asn15Lys)
|
rs1271566138
|
|
NM_002386.4(MC1R):c.461G>T (p.Ser154Ile)
|
|
|
NM_002386.4(MC1R):c.466G>A (p.Val156Met)
|
|
|
NM_002386.4(MC1R):c.471C>T (p.Thr157=)
|
|
|
NM_002386.4(MC1R):c.480G>T (p.Arg160=)
|
|
|
NM_002386.4(MC1R):c.487C>T (p.Arg163Ter)
|
rs771897011
|
|
NM_002386.4(MC1R):c.491C>G (p.Ala164Gly)
|
|
|
NM_002386.4(MC1R):c.497C>T (p.Ala166Val)
|
rs35040147
|
|
NM_002386.4(MC1R):c.4G>T (p.Ala2Ser)
|
|
|
NM_002386.4(MC1R):c.504C>G (p.Ile168Met)
|
rs34612847
|
|
NM_002386.4(MC1R):c.504C>T (p.Ile168=)
|
rs34612847
|
|
NM_002386.4(MC1R):c.506G>A (p.Trp169Ter)
|
|
|
NM_002386.4(MC1R):c.50C>A (p.Thr17Asn)
|
|
|
NM_002386.4(MC1R):c.511G>T (p.Ala171Ser)
|
|
|
NM_002386.4(MC1R):c.512C>A (p.Ala171Asp)
|
rs373224783
|
|
NM_002386.4(MC1R):c.513C>T (p.Ala171=)
|
rs775239171
|
|
NM_002386.4(MC1R):c.517GTC[1] (p.Val174del)
|
rs747777879
|
|
NM_002386.4(MC1R):c.519C>T (p.Val173=)
|
|
|
NM_002386.4(MC1R):c.530C>T (p.Thr177Met)
|
|
|
NM_002386.4(MC1R):c.534C>T (p.Leu178=)
|
rs766933388
|
|
NM_002386.4(MC1R):c.541G>A (p.Ala181Thr)
|
|
|
NM_002386.4(MC1R):c.541G>C (p.Ala181Pro)
|
|
|
NM_002386.4(MC1R):c.542C>G (p.Ala181Gly)
|
|
|
NM_002386.4(MC1R):c.544_*593del (p.Tyr182fs)
|
|
|
NM_002386.4(MC1R):c.545_*590del (p.Tyr182fs)
|
rs1555623833
|
|
NM_002386.4(MC1R):c.547T>G (p.Tyr183Asp)
|
|
|
NM_002386.4(MC1R):c.54del (p.Thr19fs)
|
rs2045689133
|
|
NM_002386.4(MC1R):c.550G>C (p.Asp184His)
|
rs530102853
|
|
NM_002386.4(MC1R):c.551A>C (p.Asp184Ala)
|
rs748173401
|
|
NM_002386.4(MC1R):c.551A>G (p.Asp184Gly)
|
|
|
NM_002386.4(MC1R):c.564C>A (p.Val188=)
|
|
|
NM_002386.4(MC1R):c.565C>T (p.Leu189=)
|
|
|
NM_002386.4(MC1R):c.567G>T (p.Leu189=)
|
|
|
NM_002386.4(MC1R):c.568C>T (p.Leu190=)
|
|
|
NM_002386.4(MC1R):c.584_585delinsAG (p.Phe195Ter)
|
|
|
NM_002386.4(MC1R):c.585C>T (p.Phe195=)
|
|
|
NM_002386.4(MC1R):c.586T>G (p.Phe196Val)
|
|
|
NM_002386.4(MC1R):c.593C>T (p.Ala198Val)
|
rs1437472612
|
|
NM_002386.4(MC1R):c.602T>C (p.Val201Ala)
|
|
|
NM_002386.4(MC1R):c.608T>C (p.Met203Thr)
|
rs769723368
|
|
NM_002386.4(MC1R):c.621C>T (p.Tyr207=)
|
rs538459120
|
|
NM_002386.4(MC1R):c.622G>T (p.Val208Phe)
|
rs775933691
|
|
NM_002386.4(MC1R):c.634G>T (p.Ala212Ser)
|
|
|
NM_002386.4(MC1R):c.63C>T (p.Ile21=)
|
rs2144390786
|
|
NM_002386.4(MC1R):c.645C>A (p.Cys215Ter)
|
rs878854501
|
|
NM_002386.4(MC1R):c.651C>T (p.His217=)
|
rs756060136
|
|
NM_002386.4(MC1R):c.654C>T (p.Ala218=)
|
|
|
NM_002386.4(MC1R):c.659G>A (p.Gly220Asp)
|
rs1567758442
|
|
NM_002386.4(MC1R):c.664G>C (p.Ala222Pro)
|
rs369807854
|
|
NM_002386.4(MC1R):c.664G>T (p.Ala222Ser)
|
rs369807854
|
|
NM_002386.4(MC1R):c.664_665delinsTA (p.Ala222Tyr)
|
rs2144392750
|
|
NM_002386.4(MC1R):c.667C>G (p.Arg223Gly)
|
|
|
NM_002386.4(MC1R):c.667C>T (p.Arg223Trp)
|
rs372152373
|
|
NM_002386.4(MC1R):c.670_691del (p.Leu224fs)
|
rs772551710
|
|
NM_002386.4(MC1R):c.676A>T (p.Lys226Ter)
|
|
|
NM_002386.4(MC1R):c.685del (p.Arg229fs)
|
|
|
NM_002386.4(MC1R):c.686_688dup (p.Arg229_Pro230insArg)
|
|
|
NM_002386.4(MC1R):c.687_690dup (p.Val231fs)
|
rs2144392802
|
|
NM_002386.4(MC1R):c.698A>C (p.Gln233Pro)
|
rs2144392840
|
|
NM_002386.4(MC1R):c.698dup (p.Phe235fs)
|
rs1555623867
|
|
NM_002386.4(MC1R):c.719C>T (p.Ala240Val)
|
rs1384239934
|
|
NM_002386.4(MC1R):c.723C>T (p.Val241=)
|
|
|
NM_002386.4(MC1R):c.724A>G (p.Thr242Ala)
|
rs2045703274
|
|
NM_002386.4(MC1R):c.726C>G (p.Thr242=)
|
|
|
NM_002386.4(MC1R):c.730A>C (p.Thr244Pro)
|
|
|
NM_002386.4(MC1R):c.730A>G (p.Thr244Ala)
|
|
|
NM_002386.4(MC1R):c.743G>A (p.Gly248Asp)
|
|
|
NM_002386.4(MC1R):c.74G>A (p.Gly25Glu)
|
rs540424761
|
|
NM_002386.4(MC1R):c.751T>G (p.Phe251Val)
|
|
|
NM_002386.4(MC1R):c.753C>A (p.Phe251Leu)
|
rs561571645
|
|
NM_002386.4(MC1R):c.753C>T (p.Phe251=)
|
|
|
NM_002386.4(MC1R):c.75G>T (p.Gly25=)
|
|
|
NM_002386.4(MC1R):c.769TTC[1] (p.Phe258del)
|
|
|
NM_002386.4(MC1R):c.778C>T (p.His260Tyr)
|
|
|
NM_002386.4(MC1R):c.786A>G (p.Thr262=)
|
|
|
NM_002386.4(MC1R):c.786_787del (p.Leu263fs)
|
rs2144393056
|
|
NM_002386.4(MC1R):c.787C>G (p.Leu263Val)
|
|
|
NM_002386.4(MC1R):c.790A>C (p.Ile264Leu)
|
rs1044424142
|
|
NM_002386.4(MC1R):c.790A>G (p.Ile264Val)
|
|
|
NM_002386.4(MC1R):c.795C>G (p.Val265=)
|
rs367998996
|
|
NM_002386.4(MC1R):c.795C>T (p.Val265=)
|
rs367998996
|
|
NM_002386.4(MC1R):c.7G>A (p.Val3Met)
|
rs2045688399
|
|
NM_002386.4(MC1R):c.800G>A (p.Cys267Tyr)
|
|
|
NM_002386.4(MC1R):c.800G>T (p.Cys267Phe)
|
rs1555623887
|
|
NM_002386.4(MC1R):c.803C>T (p.Pro268Leu)
|
rs527697723
|
|
NM_002386.4(MC1R):c.811C>G (p.Pro271Ala)
|
|
|
NM_002386.4(MC1R):c.813del (p.Thr272fs)
|
rs2045705046
|
|
NM_002386.4(MC1R):c.815C>T (p.Thr272Met)
|
rs12102534
|
|
NM_002386.4(MC1R):c.815_826del (p.Thr272_Cys275del)
|
rs765016133
|
|
NM_002386.4(MC1R):c.831C>G (p.Phe277Leu)
|
rs778370171
|
|
NM_002386.4(MC1R):c.833A>G (p.Lys278Arg)
|
|
|
NM_002386.4(MC1R):c.840C>A (p.Phe280Leu)
|
|
|
NM_002386.4(MC1R):c.847T>A (p.Phe283Ile)
|
|
|
NM_002386.4(MC1R):c.847T>C (p.Phe283Leu)
|
|
|
NM_002386.4(MC1R):c.855C>T (p.Ala285=)
|
|
|
NM_002386.4(MC1R):c.856C>T (p.Leu286Phe)
|
rs925012763
|
|
NM_002386.4(MC1R):c.859ATC[1] (p.Ile288del)
|
rs762901370
|
|
NM_002386.4(MC1R):c.861C>T (p.Ile287=)
|
rs373957223
|
|
NM_002386.4(MC1R):c.862A>G (p.Ile288Val)
|
rs1365355512
|
|
NM_002386.4(MC1R):c.864C>G (p.Ile288Met)
|
|
|
NM_002386.4(MC1R):c.868A>T (p.Asn290Tyr)
|
|
|
NM_002386.4(MC1R):c.86A>G (p.Asn29Ser)
|
|
|
NM_002386.4(MC1R):c.86dup (p.Asn29fs)
|
rs796296176
|
|
NM_002386.4(MC1R):c.873C>T (p.Ala291=)
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NM_002386.4(MC1R):c.875T>C (p.Ile292Thr)
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NM_002386.4(MC1R):c.880G>A (p.Asp294Asn)
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rs1805009
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NM_002386.4(MC1R):c.880G>T (p.Asp294Tyr)
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NM_002386.4(MC1R):c.882C>T (p.Asp294=)
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NM_002386.4(MC1R):c.883C>G (p.Pro295Ala)
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rs1037285800
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NM_002386.4(MC1R):c.883C>T (p.Pro295Ser)
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NM_002386.4(MC1R):c.887_888del (p.Leu296fs)
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NM_002386.4(MC1R):c.88C>T (p.Gln30Ter)
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NM_002386.4(MC1R):c.894_895insATCGACCCCCTCATCCTG (p.Tyr298_Ala299insIleAspProLeuIleLeu)
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NM_002386.4(MC1R):c.895G>T (p.Ala299Ser)
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rs370472871
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NM_002386.4(MC1R):c.911A>T (p.Glu304Val)
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NM_002386.4(MC1R):c.920_923delinsCT (p.Arg307fs)
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rs2045707558
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NM_002386.4(MC1R):c.927C>G (p.Leu309=)
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rs1215576125
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NM_002386.4(MC1R):c.937C>T (p.Leu313=)
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NM_002386.4(MC1R):c.939G>C (p.Leu313=)
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NM_002386.4(MC1R):c.943T>C (p.Cys315Arg)
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NM_002386.4(MC1R):c.946T>C (p.Ser316Pro)
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rs2045708038
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NM_002386.4(MC1R):c.951G>A (p.Trp317Ter)
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NM_002386.4(MC1R):c.951dup (p.Ter318ValextTer?)
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NM_002386.4(MC1R):c.954_*8del (p.Ter318Xaa)
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rs2045708145
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NM_002386.4(MC1R):c.96_102del (p.Arg34fs)
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NM_002386.4(MC1R):c.98C>T (p.Ala33Val)
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rs1215465340
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