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IKMB: Blood Group DB

Rh > RHD


Genetic changes
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nt change aa change Location hg19 hg38 rsNum
c.1A>G p.Met1Val Exon 1 chr1:25599039 chr1:25272548
c.3G>A p.Met1Ile Exon 1 chr1:25599041 chr1:25272550
c.8C>G p.Ser3Cys Exon 1 chr1:25599046 chr1:25272555 rs144969459
c.17C>T p.Pro6Leu Exon 1 chr1:25599055 chr1:25272564 rs555567027
c.19C>T p.Arg7Trp Exon 1 chr1:25599057 chr1:25272566 rs142037235
c.26T>A p.Val9Asp Exon 1 chr1:25599064 chr1:25272573 rs1393968550
c.28C>T p.Arg10Trp Exon 1 chr1:25599066 chr1:25272575 rs746827601
c.29G>A p.Arg10Gln Exon 1 chr1:25599067 chr1:25272576 rs768456998
c.29G>C p.Arg10Pro Exon 1 chr1:25599067 chr1:25272576 rs768456998
c.41C>T p.Pro14Leu Exon 1 chr1:25599079 chr1:25272588
c.41C>G p.Pro14Arg Exon 1 chr1:25599079 chr1:25272588
c.46T>C p.Trp16Arg Exon 1 chr1:25599084 chr1:25272593 rs1234095130
c.48G>C p.Trp16Cys Exon 1 chr1:25599086 chr1:25272595 rs772865539
c.48G>A p.Trp16* Exon 1 chr1:25599086 chr1:25272595 rs772865539
c.52C>G Exon 1 chr1:25599090 chr1:25272599 rs551392307
c.53T>C p.Leu18Pro Exon 1 chr1:25599091 chr1:25272600
c.62A>C p.Glu21Ala Exon 1 chr1:25599100 chr1:25272609
c.65C>A p.Ala22Glu Exon 1 chr1:25599103 chr1:25272612 rs1241008915
c.67G>T p.Ala23Ser Exon 1 chr1:25599105 chr1:25272614
c.67G>C p.Ala23Pro Exon 1 chr1:25599105 chr1:25272614
c.68C>A p.Ala23Asp Exon 1 chr1:25599106 chr1:25272615
c.73A>T p.Ile25Phe Exon 1 chr1:25599111 chr1:25272620 rs759981711
c.78delC p.Leu27Serfs*12 Exon 1 chr1:25599116 chr1:25272625 rs1264712439
c.91T>A p.Phe31Ile Exon 1 chr1:25599129 chr1:25272638
c.92T>C p.Phe31Ser Exon 1 chr1:25599130 chr1:25272639
c.93delC Exon 1 chr1:25599131 chr1:25272640
c.93_94insT p.Thr32Tyrfs*4 Exon 1 chr1:25599131 chr1:25272640
c.93dupT p.Thr32Tyrfs*4 Exon 1 chr1:25599131 chr1:25272640
c.113T>A p.Leu38* Exon 1 chr1:25599151 chr1:25272660
c.120T>A p.Asp40Glu Exon 1 chr1:25599158 chr1:25272667 rs1376627972
c.121C>T Exon 1 chr1:25599159 chr1:25272668
c.124_125delAA p.Lys42Glyfs*117 Exon 1 chr1:25599162 chr1:25272671
c.130_132delCTC p.Leu44del Exon 1 chr1:25599168 chr1:25272677
c.147delA p.Val50Leufs*5 Exon 1 chr1:25599185 chr1:25272694
c.148+1G>A Intron 1 chr1:25599187 chr1:25272696
c.148+1G>T Intron 1 chr1:25599187 chr1:25272696
c.148+5G>C Intron 1 chr1:25599191 chr1:25272700
c.149-29G>C Intron 1 chr1:25611035 chr1:25284544
c.150T>C Exon 2 chr1:25611065 chr1:25284574 rs1132758
c.157G>T p.Asp53Tyr Exon 2 chr1:25611072 chr1:25284581
c.161T>C p.Leu54Pro Exon 2 chr1:25611076 chr1:25284585 rs1397052040
c.163A>C p.Thr55Pro Exon 2 chr1:25611078 chr1:25284587
c.165C>T Exon 2 chr1:25611080 chr1:25284589 rs2301155
c.173C>T p.Ala58Val Exon 2 chr1:25611088 chr1:25284597
c.176C>A p.Ala59Asp Exon 2 chr1:25611091 chr1:25284600 rs745390335
c.178A>C p.Ile60Leu Exon 2 chr1:25611093 chr1:25284602 rs1053341
c.182G>C p.Gly61Ala Exon 2 chr1:25611097 chr1:25284606 rs1342457554
c.182G>T p.Gly61Val Exon 2 chr1:25611097 chr1:25284606 rs1342457554
c.186G>T p.Leu62Phe Exon 2 chr1:25611101 chr1:25284610 rs199509194
c.200C>G p.Ser67Trp Exon 2 chr1:25611115 chr1:25284624 rs748589594
c.201G>A Exon 2 chr1:25611116 chr1:25284625 rs41302032
c.203G>C p.Ser68Thr Exon 2 chr1:25611118 chr1:25284627
c.203G>A p.Ser68Asn Exon 2 chr1:25611118 chr1:25284627 rs62621068
c.208C>T p.Arg70Trp Exon 2 chr1:25611123 chr1:25284632 rs542542420
c.209G>A p.Arg70Gln Exon 2 chr1:25611124 chr1:25284633 rs142925159
c.216_217dupCA Exon 2 chr1:25611131 chr1:25284640
c.220T>G p.Trp74Gly Exon 2 chr1:25611135 chr1:25284644
c.223A>T p.Ser75Cys Exon 2 chr1:25611138 chr1:25284647 rs753714023
c.227G>A p.Ser76Asn Exon 2 chr1:25611142 chr1:25284651
c.242T>C p.Leu81Pro Exon 2 chr1:25611157 chr1:25284666
c.251T>C p.Leu84Pro Exon 2 chr1:25611166 chr1:25284675
c.254C>T p.Ala85Val Exon 2 chr1:25611169 chr1:25284678 rs139501061
c.254C>G p.Ala85Gly Exon 2 chr1:25611169 chr1:25284678 rs139501061
c.260G>A p.Gly87Asp Exon 2 chr1:25611175 chr1:25284684 rs1342727278
c.270G>A p.Trp90* Exon 2 chr1:25611185 chr1:25284694 rs1248638537
c.278T>G p.Leu93Arg Exon 2 chr1:25611193 chr1:25284702
c.287G>A p.Gly96Asp Exon 2 chr1:25611202 chr1:25284711 rs1164589620
c.297_319delCCAGTTCCCTTCTGGGAAGGTGG p.Gln100Hisfs*52 Exon 2 chr1:25611212 chr1:25284721
c.301T>A Exon 2 chr1:25611216 chr1:25284725
c.307T>C p.Ser103Pro Exon 2 chr1:25611222 chr1:25284731 rs1132760
c.325delA p.Thr109Hisfs*10 Exon 2 chr1:25611240 chr1:25284749 rs1376983227
c.329T>C p.Leu110Pro Exon 2 chr1:25611244 chr1:25284753 rs121912762
c.330_331delGT p.Phe111Glnfs*48 Exon 2 chr1:25611245 chr1:25284754
c.335G>C Exon 2 chr1:25611250 chr1:25284759 rs765216289
c.335G>T p.Ser112Ile Exon 2 chr1:25611250 chr1:25284759 rs765216289
c.335+1G>A Intron 2 chr1:25611251 chr1:25284760
c.336-29G>C Intron None chr1:25617103 chr1:25290612
c.336-2delA Intron 2 chr1:25617130 chr1:25290639 rs1187956199
c.336-2A>G Intron 2 chr1:25617130 chr1:25290639 rs1187956199
c.336-1G>A Intron 2 chr1:25617131 chr1:25290640
c.340C>G p.Arg114Gly Exon 3 chr1:25617136 chr1:25290645 rs1170303671
c.340C>T p.Arg114Trp Exon 3 chr1:25617136 chr1:25290645 rs1170303671
c.341G>A p.Arg114Gln Exon 3 chr1:25617137 chr1:25290646 rs530929152
c.343delC p.Leu115Trpfs*4 Exon 3 chr1:25617139 chr1:25290648 rs1364237973
c.346G>A p.Ala116Thr Exon 3 chr1:25617142 chr1:25290651
c.346G>C p.Ala116Pro Exon 3 chr1:25617142 chr1:25290651
c.347C>T p.Ala116Val Exon 3 chr1:25617143 chr1:25290652
c.359C>A p.Ala120Asp Exon 3 chr1:25617155 chr1:25290664 rs868537949
c.361_371delTTGTCGGTGCT p.Leu121Aspfs*35 Exon 3 chr1:25617157 chr1:25290666
c.361T>A p.Leu121Met Exon 3 chr1:25617157 chr1:25290666 rs41267489
c.365C>T p.Ser122Leu Exon 3 chr1:25617161 chr1:25290670 rs752408858
c.374T>A p.Ile125Asn Exon 3 chr1:25617170 chr1:25290679 rs869221624
c.376T>C p.Ser126Pro Exon 3 chr1:25617172 chr1:25290681
c.379G>T p.Val127Leu Exon 3 chr1:25617175 chr1:25290684
c.380T>C p.Val127Ala Exon 3 chr1:25617176 chr1:25290685 rs201703675
c.383A>G p.Asp128Gly Exon 3 chr1:25617179 chr1:25290688 rs758618412
c.394G>A p.Gly132Arg Exon 3 chr1:25617190 chr1:25290699
c.395G>A p.Gly132Glu Exon 3 chr1:25617191 chr1:25290700
c.399G>T p.Lys133Asn Exon 3 chr1:25617195 chr1:25290704
c.410C>A p.Ala137Glu Exon 3 chr1:25617206 chr1:25290715 rs113982491
c.410C>T p.Ala137Val Exon 3 chr1:25617206 chr1:25290715 rs113982491
c.413A>G p.Gln138Arg Exon 3 chr1:25617209 chr1:25290718
c.424_426delATG p.Met142del Exon 3 chr1:25617220 chr1:25290729
c.443C>G p.Thr148Arg Exon 3 chr1:25617239 chr1:25290748 rs757700094
c.446C>A p.Ala149Asp Exon 3 chr1:25617242 chr1:25290751 rs775336070
c.449delT p.Leu150* Exon 3 chr1:25617245 chr1:25290754 rs758987273
c.455A>C p.Asn152Thr Exon 3 chr1:25617251 chr1:25290760 rs17418085
c.458T>C p.Leu153Pro Exon 3 chr1:25617254 chr1:25290763
c.485A>G p.Asn162Ser Exon 3 chr1:25617281 chr1:25290790 rs762720982
c.486+1G>A Intron 3 chr1:25617283 chr1:25290792 rs149598033
c.486+2T>A Intron 3 chr1:25617284 chr1:25290793 rs1307580717
c.487_490delACAG p.Asp164Thrfs*3 Exon 4 chr1:25627437 chr1:25300946
c.490G>A p.Asp164Asn Exon 4 chr1:25627440 chr1:25300949
c.492C>A p.Asp164Glu Exon 4 chr1:25627442 chr1:25300951
c.494A>G p.Tyr165Cys Exon 4 chr1:25627444 chr1:25300953 rs768146074
c.497A>C p.His166Pro Exon 4 chr1:25627447 chr1:25300956 rs776018445
c.505A>C p.Met169Leu Exon 4 chr1:25627455 chr1:25300964 rs17421137
c.509T>G p.Met170Arg Exon 4 chr1:25627459 chr1:25300968 rs17421144
c.509T>C p.Met170Thr Exon 4 chr1:25627459 chr1:25300968 rs17421144
c.510G>T p.Met170Ile Exon 4 chr1:25627460 chr1:25300969
c.510G>A p.Met170Ile Exon 4 chr1:25627460 chr1:25300969
c.513C>A p.His171Gln Exon 4 chr1:25627463 chr1:25300972 rs1445804515
c.514A>T p.Ile172Phe Exon 4 chr1:25627464 chr1:25300973 rs17421151
c.520G>A p.Val174Met Exon 4 chr1:25627470 chr1:25300979 rs147421281
c.525C>T p.Phe175Leu Exon 4 chr1:25627475 chr1:25300984 rs1214722999
c.535T>C p.Phe179Leu Exon 4 chr1:25627485 chr1:25300994
c.539G>A p.Gly180Glu Exon 4 chr1:25627489 chr1:25300998 rs1210081817
c.539G>C p.Gly180Ala Exon 4 chr1:25627489 chr1:25300998 rs1210081817
c.542T>C p.Leu181Pro Exon 4 chr1:25627492 chr1:25301001 rs149700508
c.544T>A p.Ser182Thr Exon 4 chr1:25627494 chr1:25301003 rs17421158
c.545_548delCTGT p.Ser182Trpfs*46 Exon 4 chr1:25627495 chr1:25301004
c.554G>A p.Trp185* Exon 4 chr1:25627504 chr1:25301013 rs1199559517
c.560T>C p.Leu187Pro Exon 4 chr1:25627510 chr1:25301019
c.577G>A p.Glu193Lys Exon 4 chr1:25627527 chr1:25301036 rs1053352
c.579G>A Exon 4 chr1:25627529 chr1:25301038 rs77813628
c.579G>C p.Glu193Asp Exon 4 chr1:25627529 chr1:25301038
c.581_582insG p.Thr195Asnfs*4 Exon 4 chr1:25627531 chr1:25301040
c.594A>T p.Lys198Asn Exon 4 chr1:25627544 chr1:25301053 rs569974439
c.598C>T p.Gln200* Exon 4 chr1:25627548 chr1:25301057
c.602C>G p.Thr201Arg Exon 4 chr1:25627552 chr1:25301061 rs1053355
c.605C>T p.Ala202Val Exon 4 chr1:25627555 chr1:25301064
c.607A>G p.Thr203Ala Exon 4 chr1:25627557 chr1:25301066
c.609G>A Exon 4 chr1:25627559 chr1:25301068 rs114032679
c.611T>C p.Ile204Thr Exon 4 chr1:25627561 chr1:25301070
c.615_616delCA p.Ser206Phefs*111 Exon 4 chr1:25627565 chr1:25301074
c.621G>C p.Leu207Phe Exon 4 chr1:25627571 chr1:25301080 rs141287614
c.634G>T p.Gly212Cys Exon 4 chr1:25627584 chr1:25301093
c.634G>C p.Gly212Arg Exon 4 chr1:25627584 chr1:25301093
c.634G>A p.Gly212Ser Exon 4 chr1:25627584 chr1:25301093
c.634+1G>T Intron 4 chr1:25627585 chr1:25301094 rs751341830
c.634+5G>T Intron 4 chr1:25627589 chr1:25301098
c.635-2A>C Intron 4 chr1:25628009 chr1:25301518
c.635-2A>G Intron 4 chr1:25628009 chr1:25301518
c.635G>T p.Gly212Val Exon 5 chr1:25628011 chr1:25301520
c.635G>A p.Gly212Asp Exon 5 chr1:25628011 chr1:25301520
c.640C>T p.Leu214Phe Exon 5 chr1:25628016 chr1:25301525 rs138176025
c.643T>C Exon 5 chr1:25628019 chr1:25301528
c.646T>C Exon 5 chr1:25628022 chr1:25301531
c.652delA Exon 5 chr1:25628028 chr1:25301537
c.653T>G Exon 5 chr1:25628029 chr1:25301538 rs1215213006
c.654G>C Exon 5 chr1:25628030 chr1:25301539 rs141540728
c.658T>C p.Trp220Arg Exon 5 chr1:25628034 chr1:25301543
c.659delG p.Trp220Cysfs*9 Exon 5 chr1:25628035 chr1:25301544 rs776461331
c.660delG p.Trp220Cysfs*9 Exon 5 chr1:25628036 chr1:25301545 rs776461331
c.661C>T p.Pro221Ser Exon 5 chr1:25628037 chr1:25301546
c.661C>A p.Pro221Thr Exon 5 chr1:25628037 chr1:25301546
c.667T>G p.Phe223Val Exon 5 chr1:25628043 chr1:25301552 rs1053356
c.668T>C p.Phe223Ser Exon 5 chr1:25628044 chr1:25301553
c.671A>G p.Asn224Ser Exon 5 chr1:25628047 chr1:25301556 rs756129923
c.674C>T p.Ser225Phe Exon 5 chr1:25628050 chr1:25301559 rs148014996
c.676G>C p.Ala226Pro Exon 5 chr1:25628052 chr1:25301561 rs3193872
c.677C>A p.Ala226Asp Exon 5 chr1:25628053 chr1:25301562
c.680T>C p.Leu227Pro Exon 5 chr1:25628056 chr1:25301565
c.684_686delGAG p.Arg229del Exon 5 chr1:25628060 chr1:25301569
c.686G>A p.Arg229Lys Exon 5 chr1:25628062 chr1:25301571
c.689G>T p.Ser230Ile Exon 5 chr1:25628065 chr1:25301574 rs374920252
c.697delG p.Glu233Lysfs*13 Exon 5 chr1:25628073 chr1:25301582
c.697G>C p.Glu233Gln Exon 5 chr1:25628073 chr1:25301582 rs1053359
c.697G>A p.Glu233Lys Exon 5 chr1:25628073 chr1:25301582 rs1053359
c.700A>T p.Arg234Trp Exon 5 chr1:25628076 chr1:25301585
c.702delG p.Lys235Argfs*11 Exon 5 chr1:25628078 chr1:25301587
c.704A>C p.Lys235Thr Exon 5 chr1:25628080 chr1:25301589 rs769183738
c.705_707delGAA p.Lys235del Exon 5 chr1:25628081 chr1:25301590
c.711delC p.Val238Cysfs*8 Exon 5 chr1:25628087 chr1:25301596 rs367810718
c.712G>A p.Val238Met Exon 5 chr1:25628088 chr1:25301597 rs1053360
c.712delG p.Val238Cysfs*8 Exon 5 chr1:25628088 chr1:25301597 rs1053360
c.721A>C p.Thr241Pro Exon 5 chr1:25628097 chr1:25301606
c.722C>T p.Thr241Ile Exon 5 chr1:25628098 chr1:25301607
c.727T>A p.Tyr243Asn Exon 5 chr1:25628103 chr1:25301612
c.728A>G p.Tyr243Cys Exon 5 chr1:25628104 chr1:25301613 rs773371990
c.730G>C p.Ala244Pro Exon 5 chr1:25628106 chr1:25301615
c.731C>T p.Ala244Val Exon 5 chr1:25628107 chr1:25301616 rs763237896
c.733C>G Exon 6 chr1:25628109 chr1:25301618
c.733G>C p.Val254Leu Exon 5 chr1:25628109 chr1:25301618 rs150073306
c.739G>C p.Val247Leu Exon 5 chr1:25628115 chr1:25301624 rs1252026950
c.740T>G p.Val247Gly Exon 5 chr1:25628116 chr1:25301625
c.744C>T Exon 5 chr1:25628120 chr1:25301629 rs1053362
c.745_757del13 p.Val249Serfs*35 Exon 5 chr1:25628121 chr1:25301630
c.745_759delinsAG p.Val249Serfs*35 Exon 5 chr1:25628121 chr1:25301630
c.745_757delGTGGTGACAGCCA Exon 5 chr1:25628121 chr1:25301630
c.751A>C p.Thr251Pro Exon 5 chr1:25628127 chr1:25301636
c.758T>A p.Ile253Asn Exon 5 chr1:25628134 chr1:25301643
c.759C>G Exon 5 chr1:25628135 chr1:25301644 rs147896635
c.761C>G p.Ser254* Exon 5 chr1:25628137 chr1:25301646 rs1264388315
c.766T>C p.Ser256Pro Exon 5 chr1:25628142 chr1:25301651
c.767C>G p.Ser256* Exon 5 chr1:25628143 chr1:25301652 rs780356470
c.770C>T p.Ser257Phe Exon 5 chr1:25628146 chr1:25301655 rs1192006597
c.780C>A p.His260Gln Exon 5 chr1:25628156 chr1:25301665
c.785delA p.Lys264Argfs*24 Exon 5 chr1:25628161 chr1:25301670
c.787G>A p.Gly263Arg Exon 5 chr1:25628163 chr1:25301672 rs3118454
c.800A>T p.Lys267Met Exon 5 chr1:25628176 chr1:25301685 rs112907722
c.801+1G>A Intron 5 chr1:25628178 chr1:25301687 rs1399683971
c.802-41_802-38delCTCT Intron 5 chr1:25629772 chr1:25303281
c.807T>G Exon 6 chr1:25629818 chr1:25303327 rs141833592
c.809T>G p.Val270Gly Exon 6 chr1:25629820 chr1:25303329 rs121912763
c.809T>A p.Val270Glu Exon 6 chr1:25629820 chr1:25303329 rs121912763
c.818C>T p.Ala273Val Exon 6 chr1:25629829 chr1:25303338 rs774785863
c.818C>A p.Ala273Glu Exon 6 chr1:25629829 chr1:25303338 rs774785863
c.819G>A Exon 6 chr1:25629830 chr1:25303339 rs150606530
c.822delG p.Leu275Trpfs*13 Exon 6 chr1:25629833 chr1:25303342
c.826G>C p.Ala276Pro Exon 6 chr1:25629837 chr1:25303346
c.830G>A p.Gly277Glu Exon 6 chr1:25629841 chr1:25303350
c.833G>A p.Gly278Asp Exon 6 chr1:25629844 chr1:25303353 rs768516914
c.835G>A p.Val279Met Exon 6 chr1:25629846 chr1:25303355 rs139704879
c.838G>A p.Ala280Thr Exon 6 chr1:25629849 chr1:25303358
c.842T>G p.Val281Gly Exon 6 chr1:25629853 chr1:25303362
c.845G>A p.Gly282Asp Exon 6 chr1:25629856 chr1:25303365 rs142484009
c.848C>T p.Thr283Ile Exon 6 chr1:25629859 chr1:25303368 rs766015647
c.851C>T p.Ser284Leu Exon 6 chr1:25629862 chr1:25303371 rs1242213324
c.854G>A p.Cys285Tyr Exon 6 chr1:25629865 chr1:25303374
c.871C>T p.Pro291Ser Exon 6 chr1:25629882 chr1:25303391
c.872C>G p.Pro291Arg Exon 6 chr1:25629883 chr1:25303392 rs778406196
c.874T>C p.Trp292Arg Exon 6 chr1:25629885 chr1:25303394
c.880G>C p.Ala294Pro Exon 6 chr1:25629891 chr1:25303400
c.881C>T p.Ala294Val Exon 6 chr1:25629892 chr1:25303401 rs779150774
c.884T>A p.Met295Lys Exon 6 chr1:25629895 chr1:25303404
c.884T>C p.Met295Thr Exon 6 chr1:25629895 chr1:25303404
c.885G>T p.Met295Ile Exon 6 chr1:25629896 chr1:25303405 rs371803235
c.895C>G p.Leu299Val Exon 6 chr1:25629906 chr1:25303415 rs772372065
c.896T>C p.Leu299Pro Exon 6 chr1:25629907 chr1:25303416
c.905_906insTGGCT Exon 6 chr1:25629916 chr1:25303425
c.908_909insTGGCT Exon 6 chr1:25629919 chr1:25303428
c.915delC p.Val306Serfs*53 Exon 6 chr1:25629926 chr1:25303435 rs148569980
c.916G>A p.Val306Ile Exon 6 chr1:25629927 chr1:25303436 rs590813
c.919G>A p.Gly307Arg Exon 6 chr1:25629930 chr1:25303439 rs762881746
c.922G>T p.Gly308* Exon 6 chr1:25629933 chr1:25303442 rs1355698683
c.932A>G p.Tyr311Cys Exon 6 chr1:25629943 chr1:25303452 rs590787
c.933C>G p.Tyr311* Exon 6 chr1:25629944 chr1:25303453 rs1306387774
c.933C>A p.Tyr311* Exon 6 chr1:25629944 chr1:25303453 rs1306387774
c.938C>T p.Pro313Leu Exon 6 chr1:25629949 chr1:25303458 rs200137267
c.939+1G>A Intron 6 chr1:25629951 chr1:25303460
c.939+2_939+5delTAAG Intron 6 chr1:25629952 chr1:25303461
c.939+2T>A Intron 6 chr1:25629952 chr1:25303461
c.941G>T p.Gly314Val Exon 7 chr1:25633088 chr1:25306597 rs200762372
c.950delA p.Asn317Thrfs*42 Exon 7 chr1:25633097 chr1:25306606
c.952C>T p.Arg318* Exon 7 chr1:25633099 chr1:25306608 rs760262848
c.953G>A p.Arg318Gln Exon 7 chr1:25633100 chr1:25306609 rs764473605
c.957G>A Exon 7 chr1:25633104 chr1:25306613 rs146292192
c.968C>T p.Pro323Leu Exon 7 chr1:25633115 chr1:25306624 rs200415166
c.968C>A p.Pro323His Exon 7 chr1:25633115 chr1:25306624 rs200415166
c.970_972delCAC Exon 7 chr1:25633117 chr1:25306626
c.974G>T p.Ser325Ile Exon 7 chr1:25633121 chr1:25306630 rs377051051
c.976_991delTCCATCATGGGCTACA Exon 7 chr1:25633123 chr1:25306632
c.979A>G p.Ile327Val Exon 7 chr1:25633126 chr1:25306635 rs780001468
c.983T>A p.Met328Lys Exon 7 chr1:25633130 chr1:25306639
c.985G>C p.Gly329His Exon 7 chr1:25633132 chr1:25306641
c.986G>A p.Gly329His Exon 7 chr1:25633133 chr1:25306642
c.988T>C Exon 7 chr1:25633135 chr1:25306644
c.989A>C p.Tyr330Ser Exon 7 chr1:25633136 chr1:25306645 rs751746562
c.990C>G p.Tyr330* Exon 7 chr1:25633137 chr1:25306646 rs1194297861
c.992A>T p.Asn331Ile Exon 7 chr1:25633139 chr1:25306648 rs755177266
c.993C>G p.Asn331Lys Exon 7 chr1:25633140 chr1:25306649 rs369751348
c.993delC p.Phe332Serfs*27 Exon 7 chr1:25633140 chr1:25306649
c.998G>A p.Ser333Asn Exon 7 chr1:25633145 chr1:25306654 rs144996388
c.1006G>C p.Gly336Arg Exon 7 chr1:25633153 chr1:25306662 rs1160800848
c.1006G>T Exon 7 chr1:25633153 chr1:25306662
c.1007G>A p.Gly336Asp Exon 7 chr1:25633154 chr1:25306663 rs1391779105
c.1010T>G p.Leu337Arg Exon 7 chr1:25633157 chr1:25306666
c.1012C>G p.Leu338Val Exon 7 chr1:25633159 chr1:25306668
c.1013T>C p.Leu338Pro Exon 7 chr1:25633160 chr1:25306669 rs770829982
c.1015G>A p.Gly339Arg Exon 7 chr1:25633162 chr1:25306671
c.1016G>A p.Gly339Glu Exon 7 chr1:25633163 chr1:25306672
c.1018G>A Exon 7 chr1:25633165 chr1:25306674
c.1018_1019delinsAT p.Glu340Met Exon 7 chr1:25633165 chr1:25306674
c.1019A>T Exon 7 chr1:25633166 chr1:25306675
c.1025T>C p.Ile342Thr Exon 7 chr1:25633172 chr1:25306681 rs138235491
c.1029C>A p.Tyr343* Exon 7 chr1:25633176 chr1:25306685 rs771554591
c.1034T>A p.Val345Glu Exon 7 chr1:25633181 chr1:25306690 rs774889533
c.1048G>C p.Asp350His Exon 7 chr1:25633195 chr1:25306704 rs41307826
c.1053C>T Exon 7 chr1:25633200 chr1:25306709 rs41300142
c.1057G>G p.Gly353Trp Exon 7 chr1:25633204 chr1:25306713
c.1057G>A p.Gly353Arg Exon 7 chr1:25633204 chr1:25306713 rs200307239
c.1057G>T p.Gly353Trp Exon 7 chr1:25633204 chr1:25306713 rs200307239
c.1059A>G p.Gly353Trp Exon 7 chr1:25633206 chr1:25306715 rs1468536305
c.1060G>A p.Ala354Thr Exon 7 chr1:25633207 chr1:25306716 rs753613761
c.1061C>A p.Ala354Asp Exon 7 chr1:25633208 chr1:25306717 rs756982993
c.1063G>T Exon 7 chr1:25633210 chr1:25306719 rs146093871
c.1063G>A p.Gly355Ser Exon 7 chr1:25633210 chr1:25306719 rs146093871
c.1070G>A p.Gly357Asp Exon 7 chr1:25633217 chr1:25306726 rs371135217
c.1073T>C p.Met358Thr Exon 7 chr1:25633220 chr1:25306729
c.1073+1G>T Intron 7 chr1:25633221 chr1:25306730
c.1073+2T>C Intron 7 chr1:25633222 chr1:25306731
c.1073+152C>A Intron 7 chr1:25633372 chr1:25306881 rs41307824
c.1074-100_1153+?del Intron 7,8 chr1:25643391 chr1:25316900
c.1074-2A>C Intron 7 chr1:25643489 chr1:25316998 rs1176954465
c.1074-1G>A Intron 7 chr1:25643490 chr1:25316999
c.1080_1089delCTTCCAGGTC p.Phe361Serfs*12 Exon 8 chr1:25643497 chr1:25317006
c.1084C>T p.Gln362* Exon 8 chr1:25643501 chr1:25317010
c.1107A>C p.Glu369Asp Exon 8 chr1:25643524 chr1:25317033
c.1121T>A p.Ile374Asn Exon 8 chr1:25643538 chr1:25317047
c.1122C>T Exon 8 chr1:25643539 chr1:25317048
c.1132C>G p.Leu378Val Exon 8 chr1:25643549 chr1:25317058 rs1204257183
c.1136C>T p.Thr379Met Exon 8 chr1:25643553 chr1:25317062
c.1145T>C p.Leu382Pro Exon 8 chr1:25643562 chr1:25317071
c.1148T>C p.Leu383Pro Exon 8 chr1:25643565 chr1:25317074
c.1152A>C p.Thr384Thr Exon 8 chr1:25643569 chr1:25317078 rs1231058826
c.1153+1G>A Intron 8 chr1:25643571 chr1:25317080 rs1292183494
c.1154-31C>T Intron 8 chr1:25648349 chr1:25321858
c.1154-8T>A Intron 8 chr1:25648372 chr1:25321881
c.1154-1G>A Intron None chr1:25648379 chr1:25321888
c.1154G>A p.Gly385Asp Exon 9 chr1:25648380 chr1:25321889
c.1154G>C p.Gly385Ala Exon 9 chr1:25648380 chr1:25321889 rs71652374
c.1157T>A Exon 9 chr1:25648383 chr1:25321892
c.1168C>G p.Leu390Val Exon 9 chr1:25648394 chr1:25321903
c.1169T>C p.Leu390Pro Exon 9 chr1:25648395 chr1:25321904
c.1170T>C Exon 9 chr1:25648396 chr1:25321905 rs1132772
c.1174delA p.Ile392Tyrfs*25 Exon 9 chr1:25648400 chr1:25321909
c.1177T>C p.Trp393Arg Exon 9 chr1:25648403 chr1:25321912 rs201345482
c.1179G>A p.Trp393* Exon 9 chr1:25648405 chr1:25321914
c.1184C>T p.Ala395Val Exon 9 chr1:25648410 chr1:25321919 rs1484877972
c.1187C>G p.Pro396Arg Exon 9 chr1:25648413 chr1:25321922 rs760802800
c.1193A>T p.Glu398Val Exon 9 chr1:25648419 chr1:25321928 rs45549244
c.1194G>C p.Glu398Asp Exon 9 chr1:25648420 chr1:25321929 rs1325921947
c.1195G>A p.Ala399Thr Exon 9 chr1:25648421 chr1:25321930 rs150059028
c.1199A>T p.Lys400Ile Exon 9 chr1:25648425 chr1:25321934
c.1199A>C p.Lys400Thr Exon 9 chr1:25648425 chr1:25321934
c.1200A>T p.Lys400Asn Exon 9 chr1:25648426 chr1:25321935
c.1203T>A p.Tyr401* Exon 9 chr1:25648429 chr1:25321938 rs759513820
c.1207G>T p.Asp403Tyr Exon 9 chr1:25648433 chr1:25321942
c.1208A>T p.Asp403Val Exon 9 chr1:25648434 chr1:25321943
c.1210G>C p.Asp404His Exon 9 chr1:25648436 chr1:25321945
c.1212C>A p.Asp404Glu Exon 9 chr1:25648438 chr1:25321947 rs767611524
c.1213C>G Exon 9 chr1:25648439 chr1:25321948
c.1213C>T p.Gln405* Exon 9 chr1:25648439 chr1:25321948
c.1215A>C p.Gln405His Exon 9 chr1:25648441 chr1:25321950 rs752237488
c.1219_1224delTTCTGG p.Phe407_Trp408del Exon 9 chr1:25648445 chr1:25321954
c.1221C>A p.Phe407Leu Exon 9 chr1:25648447 chr1:25321956
c.1222T>C p.Trp408Arg Exon 9 chr1:25648448 chr1:25321957
c.1224G>C p.Trp408Cys Exon 9 chr1:25648450 chr1:25321959
c.1226A>T p.Lys409Met Exon 9 chr1:25648452 chr1:25321961 rs375471538
c.1227G>A Exon 9 chr1:25648453 chr1:25321962 rs549616139
c.1228-2_1246delTTTCCTCATTTGGCTGTTG Intron None chr1:25655387 chr1:25328896
c.1228-1_1248delgTTTCCTCATTTGGCTGTTGGA Intron 9 chr1:25655388 chr1:25328897
c.1228-1G>A Intron 9 chr1:25655388 chr1:25328897
c.1228T>G p.Phe410Val Exon 10 chr1:25655389 chr1:25328898
c.1229T>C p.Phe410Ser Exon 10 chr1:25655390 chr1:25328899
c.1238T>G p.Leu413Trp Exon 10 chr1:25655399 chr1:25328908
c.1241C>T p.Ala414Val Exon 10 chr1:25655402 chr1:25328911
c.1248_1249insG p.Phe417Valfs*? Exon 10 chr1:25655409 chr1:25328918 rs1461349743
c.1250T>C p.Phe417Ser Exon 10 chr1:25655411 chr1:25328920 rs906591455
c.1251_1252insT Exon 10 chr1:25655412 chr1:25328921
c.1252T>A p.*418Lysext*? Exon 10 chr1:25655413 chr1:25328922
c.1252_1253insT p.*418Leuext*70 Exon 10 chr1:25655413 chr1:25328922
c.802-38_35del Exon 5 chr1:None chr1:None
c.487-20insCTTACTGGGTTTTATTGCAGACAGACTACCACATGAA Intron None chr1:None chr1:None

Rh blood group D antigen
Chromosome:chr1
Strand:+
Genomic ref.:NG_007494
Transcript ref.:NM_016124
Protein ref.: NP_001121163.1 NP_001269797.1 NP_001269798.1 NP_001269800.1 NP_057208.2
Entrez GeneID:6007
Uniprot ID:Q02161
Further links:GTEx Portal, gnomAD
hg19:
ExonsStartEndCDS StartCDS End
10 25598976 25656936 25599038 25655415
hg38:
ExonsStartEndCDS StartCDS End
10 25272485 25330445 25272547 25328924
Exon hg19 start hg19 end hg38 start hg38 end
1 25598976 25599186 25272485 25272695
10 25655388 25656936 25328897 25330445
2 25611063 25611250 25284572 25284759
3 25617131 25617282 25290640 25290791
4 25627436 25627584 25300945 25301093
5 25628010 25628177 25301519 25301686
6 25629812 25629950 25303321 25303459
7 25633086 25633220 25306595 25306729
8 25643490 25643570 25316999 25317079
9 25648379 25648453 25321888 25321962