Rh > RHD
Quick Filter: | |||||||||
---|---|---|---|---|---|---|---|---|---|
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: |
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hg38: |
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