| Gene Name | Location | Protein Effect | DNA Change | Protein Change | Reference | Admin |
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Showing 1 to 272 of 272. |
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| ACVRL1 | Exon 02 | Deletion/Frameshift | c.31_50del20 | p.Leu11fsX36 | 78 | Details |
| ACVRL1 | Exon 02 | Deletion/Frameshift | c.37delC | p.Leu13fsX14 | 23, 35, 50 | Details |
| ACVRL1 | Exon 02 | Nonsense | c.50_53delTGGT | p.Leu17X | 80 | Details |
| ACVRL1 | Intron 02 | Unknown | c.61+10G>A | Unknown | 23, 35 | Details |
| ACVRL1 | Exon 03 | InDel/Frameshift | c.74_78delAGCCGins17 ... | unknown ... | | Details |
| ACVRL1 | Exon 03 | Deletion/Frameshift | c.83delG | p.Arg28fs | 47 | Details |
| ACVRL1 | Exon 03 | Deletion/Frameshift | c.86delG | p.Gly29fs | 24, 51 | Details |
| ACVRL1 | Exon 03 | Missense | c.88C>T | p.Pro30Ser | 69 | Details |
| ACVRL1 | Exon 03 | Missense | c.95T>G | p.Val32Gly | 72 | Details |
| ACVRL1 | Exon 03 | Deletion/Frameshift | c.100_115del16 | p.Cys34fs | 60 | Details |
| ACVRL1 | Exon 03 | Insertion/Frameshift | c.100_101insT | p.Cys34fsX37 | | Details |
| ACVRL1 | Exon 03 | Missense | c.101G>A | p.Cys34Tyr | 69 | Details |
| ACVRL1 | Exon 03 | Nonsense | c.102C>A | p.Cys34X | 72 | Details |
| ACVRL1 | Exon 03 | Missense | c.107G>A | p.Cys36Tyr | 67 | Details |
| ACVRL1 | Exon 03 | Insertion/Frameshift | c.115_118dupCCAC | p.His40ProfsX130 | 65 | Details |
| ACVRL1 | Exon 03 | Missense | c.121T>C | p.Cys41Arg | 65 | Details |
| ACVRL1 | Exon 03 | Deletion/Frameshift | c.128_132delGGCCT | p.Gly43fs | 68 | Details |
| ACVRL1 | Exon 03 | Deletion/Frameshift | c.129delG | p.Gly42fsX77 | | Details |
| ACVRL1 | Exon 03 | In-frame InDel | c.136_137delTGinsCT | p.Cys46Leu | 68 | Details |
| ACVRL1 | Exon 03 | Insertion/Frameshift | c.139dupC | p.Arg47fs | 69 | Details |
| ACVRL1 | Exon 03 | Insertion/Frameshift | c.139_140insG | p.Gly48fs | 25 | Details |
| ACVRL1 | Exon 03 | Missense | c.140G>C | p.Arg47Pro | 67, 68 | Details |
| ACVRL1 | Exon 03 | Missense | c.142G>A | p.Gly48Arg | 35 | Details |
| ACVRL1 | Exon 03 | Complex | c.143G>A, 145delG, 1 ... | p.Gly48Glu, Ala49Pro ... | 26 | Details |
| ACVRL1 | Exon 03 | Missense | c.143G>A | p.Gly48Glu | 49 | Details |
| ACVRL1 | Exon 03 | Insertion/Frameshift | c.144_145insG | p.Ala49fs | 25, 27 | Details |
| ACVRL1 | Exon 03 | Deletion/Frameshift | c.145delG | p.Ala49fs | 27, 69 | Details |
| ACVRL1 | Exon 03 | Missense | c.148T>G | p.Try50Gly | 81 | Details |
| ACVRL1 | Exon 03 | Nonsense | c.149G>A | p.Trp50X | 61, 68 | Details |
| ACVRL1 | Exon 03 | Nonsense | c.150G>A | p.Trp50X | 47 | Details |
| ACVRL1 | Exon 03 | Missense | c.150G>T | p.Trp50Cys | 25, 26, 40, 51 | Details |
| ACVRL1 | Exon 03 | Missense | c.152G>A | p.Cys51Tyr | 25, 27, 65, 74 | Details |
| ACVRL1 | Exon 03 | Missense | c.154A>G | p.Thr52Ala | 69 | Details |
| ACVRL1 | Exon 03 | In-frame Deletion | c.164_169delTGGTGC | p.Leu55_Val56del | 74 | Details |
| ACVRL1 | Exon 03 | Nonsense | c.172G>T | p.Glu58X | 27, 69, 74 | Details |
| ACVRL1 | Exon 03 | Deletion/Frameshift | c.190delC | p.Gln64fs | 47, 60 | Details |
| ACVRL1 | Exon 03 | Deletion/Frameshift | c.191delA | p.Gln64fs | 69 | Details |
| ACVRL1 | Exon 03 | Missense | c.197A>C | p.His66Pro | 65, 81 | Details |
| ACVRL1 | Exon 03 | Missense | c.199C>T | p.Arg67Trp | 27, 48, 61, 69, 81 | Details |
| ACVRL1 | Exon 03 | Missense | c.200G>A | p.Arg67Gln | 40, 60, 65, 69, 70 | Details |
| ACVRL1 | Exon 03 | Missense | c.202G>T | p.Gly68Cys | 67 | Details |
| ACVRL1 | Exon 03 | Frameshift | c.203_204insG | p.Gly68fsX | 74 | Details |
| ACVRL1 | Exon 03 | Deletion/Frameshift | c.203delG | p.Gly68fs | 47 | Details |
| ACVRL1 | Exon 03 | Missense | c.205T>C | p.Cys69Arg | 81 | Details |
| ACVRL1 | Exon 03 | Insertion/Frameshift | c.205_209dupTGCGG | p.Gly70fsX123 | 80 | Details |
| ACVRL1 | Exon 03 | Missense | c.206G>A | p.Cys69Tyr | 72 | Details |
| ACVRL1 | Exon 03 | Deletion/Frameshift | c.215delT | p.Leu72fs | 68 | Details |
| ACVRL1 | Exon 03 | Insertion/Frameshift | c.218_219insAA | p.His73GlnfsX50 | 65 | Details |
| ACVRL1 | Exon 03 | In-frame Deletion | c.229_240delTGCAGGGG ... | p.Cys77_Arg80del ... | 68 | Details |
| ACVRL1 | Exon 03 | Missense | c.230G>A | p.Cys77Tyr | | Details |
| ACVRL1 | Exon 03 | Missense | c.231C>G | p.Cys77Trp | 25 | Details |
| ACVRL1 | Exon 03 | Missense | c.235G>A | p.Gly79Arg | 74 | Details |
| ACVRL1 | Exon 03 | Insertion/Frameshift | c.237_238insG | p.Arg80fs | 24 | Details |
| ACVRL1 | Exon 03 | Insertion/Frameshift | c.243_244dupC | p.Thr82fsX122 | 35 | Details |
| ACVRL1 | Exon 03 | Deletion/Frameshift | c.243delC | p.Pro81ProfsX41 | | Details |
| ACVRL1 | Exon 03 | In-frame Deletion | c.244_246delACC | p.Thr82del | 67 | Details |
| ACVRL1 | Exon 03 | Deletion/Frameshift | c.246delC | p.Thr82fsX121 | 61 | Details |
| ACVRL1 | Exon 03 | Missense | c.266G>A | p.Cys89Tyr | | Details |
| ACVRL1 | Exon 03 | Missense | c.269G>A | p.Cys90Tyr | 72, 78 | Details |
| ACVRL1 | Exon 03 | Missense | c.283T>C | p.Cys95Arg | 65 | Details |
| ACVRL1 | Exon 03 | Missense | c.286A>G | p.Asn96Asp | 25 | Details |
| ACVRL1 | Exon 03 | In-frame Deletion | c.289_294delCACAAC | p.His97Asn98del | 27, 74 | Details |
| ACVRL1 | Exon 03 | Missense | c.293A>G | p.Asn98Ser | 73 | Details |
| ACVRL1 | Exon 03 | Deletion/Frameshift | c.301_307delCTGGTGC | p.Leu101fsX121 | 35 | Details |
| ACVRL1 | Exon 03 | Deletion/Frameshift | g.5365_9652del4288 | p.Gly21_Gly416del | 73 | Details |
| ACVRL1 | Intron 03 | Splice Defect | c.313+1G>A | Unknown | | Details |
| ACVRL1 | Intron 03 | Splice Defect | c.314-3C>G | Unknown | 73 | Details |
| ACVRL1 | Exon 04 | Deletion/Frameshift | c.319delC | p.Gln107fs | 81 | Details |
| ACVRL1 | Exon 04 | Frameshift | c.321delA | p.Glu107fsX121 | 74 | Details |
| ACVRL1 | Exon 04 | Nonsense | c.352C>T | p.Gln118X | 47 | Details |
| ACVRL1 | exon 04 | Insertion/Frameshift | c.353_360dupAGCTGGCC | p.L121fs | | Details |
| ACVRL1 | exon 04 | Insertion/Frameshift | c.353_360dupAGCTGGCC | p.L121fs | | Details |
| ACVRL1 | Exon 04 | Insertion/Frameshift | c.372_373insCC | p.Pro125fs | 47 | Details |
| ACVRL1 | Exon 04 | Missense | c.383C>A | p.Ala128Asp | 48 | Details |
| ACVRL1 | Exon 04 | Deletion/Frameshift | c.400delG | p.Ala134fs | 25 | Details |
| ACVRL1 | Exon 04 | Deletion/Frameshift | c.406_409delGGTG | p.Gly136fs | 25 | Details |
| ACVRL1 | Exon 04 | Nonsense | c.423G>A | p.Trp141X | 24, 40 | Details |
| ACVRL1 | Exon 04 | Nonsense | c.430C>T | p.Arg144X | 13, 24, 35, 60, 64, 65, 70, 74 | Details |
| ACVRL1 | Exon 04 | Deletion/Frameshift | c.434delG | p.Arg145fs | 62, 67 | Details |
| ACVRL1 | Exon 04 | Insertion/Frameshift | c.436dupG | p.Arg146fs | 69 | Details |
| ACVRL1 | Exon 04 | Nonsense | c.439C>T | p.Gln147X | 47 | Details |
| ACVRL1 | Exon 04 | Nonsense | c.448C>T | p.Gln150X | 65 | Details |
| ACVRL1 | Exon 04 | Nonsense | c.475G>T | p.Glu159X | 40 | Details |
| ACVRL1 | Exon 04 | Deletion/Frameshift | c.476_477delAG | p.Q158fsX167 | | Details |
| ACVRL1 | Exon 04 | Deletion/Frameshift | c.480_481delCA | p.Ser161fs | 60 | Details |
| ACVRL1 | Exon 04 | Deletion/Frameshift | c.494_501delCCCAGAGC | | | Details |
| ACVRL1 | Exon 04 | Deletion/Frameshift | c.510delC | p.Gly170fsX257 | 35 | Details |
| ACVRL1 | Exon 04 | Unknown | c.525_525+1delGG | | 72 | Details |
| ACVRL1 | Exon 04 | Splice Defect | c.525+1delG | Unknown | | Details |
| ACVRL1 | Intron 04 | Splice Defect | c.525+2T>C | unknown | | Details |
| ACVRL1 | Intron 04 | Splice Defect | c.525+1G>A | unknown | 78 | Details |
| ACVRL1 | Intron 04 | Unknown | c.525+3A>G | | 78 | Details |
| ACVRL1 | Intron 04 | In-frame Deletion | c.526-?_625+?del | deletion exon05 | 69 | Details |
| ACVRL1 | Exon 05 | Missense | c.526G>T | p.Asp176Tyr | 81 | Details |
| ACVRL1 | Exon 05 | Missense | c.536A>C | p.Asp179Ala | 50 | Details |
| ACVRL1 | Exon 05 | Insertion/Frameshift | c.540_541insA | p.Asp181fs | 68 | Details |
| ACVRL1 | Exon 05 | Deletion/Frameshift | c.563delC | p.T188fs | | Details |
| ACVRL1 | exon 05 | Deletion/Frameshift | c.567delG | p.G189fs | | Details |
| ACVRL1 | exon 05 | Deletion/Frameshift | c.567delG | p.G189fs | | Details |
| ACVRL1 | Exon 05 | Deletion/Frameshift | c.573delC | p.Phe192fs | 60 | Details |
| ACVRL1 | Exon 05 | Missense | c.586A>G | p.Arg196Gly | | Details |
| ACVRL1 | Exon 05 | Missense | c.590C>T | p.Thr197Ile | 69 | Details |
| ACVRL1 | Exon 05 | Splice Defect | c.625_626insTG | p.Gly209fs | 47 | Details |
| ACVRL1 | Intron 05 | Splice Defect | c.625+1delGinsTTT | unknown | | Details |
| ACVRL1 | Intron 05 | Unknown | c.626-9_630delGGCCAT ... | ? ... | 81 | Details |
| ACVRL1 | Intron 05 | Unknown | c.626-6del14 | Unknown | 47 | Details |
| ACVRL1 | Intron 05 | Splice Defect | c.626-3C>G | r.626_772del, r.526_772del | 65, 70 | Details |
| ACVRL1 | Exon 06 | Missense | c.632G>A | p.Gly211Asp | 50, 52 | Details |
| ACVRL1 | Exon 06 | Missense | c.632G>C | p.Gly211Ala | | Details |
| ACVRL1 | Exon 06 | Missense | c.643G>A | p.Glu215Lys | 35 | Details |
| ACVRL1 | Exon 06 | Nonsense | c.650G>A | p.Trp217X | 80 | Details |
| ACVRL1 | Exon 06 | Nonsense | c.651G>A | p.Trp217X | 69 | Details |
| ACVRL1 | Exon 06 | Missense | c.656G>A | p.Gly219Asp | 69 | Details |
| ACVRL1 | Exon 06 | Deletion/Frameshift | c.664_668delCACGG | p.His222X | 35 | Details |
| ACVRL1 | Exon 06 | Missense | c.667G>C | p.Gly223Arg | 35 | Details |
| ACVRL1 | Exon 06 | Missense | c.670G>A | p.Gly224Lys | 72 | Details |
| ACVRL1 | exon 06 | Deletion/Frameshift | c.673_674delAG | p.S225fs | | Details |
| ACVRL1 | Exon 06 | Deletion/Frameshift | c.682delG | p.Val228fs | 35 | Details |
| ACVRL1 | Exon 06 | Missense | c.686A>T | p.Lys229Met | 65 | Details |
| ACVRL1 | Exon 06 | Missense | c.686A>G | p.Lys229Arg | 35 | Details |
| ACVRL1 | Exon 06 | In-frame Deletion | c.696_698delCTC | p.Ser233del | 26, 29, 35, 40, 69 | Details |
| ACVRL1 | Exon 06 | Missense | c.698C>T | p.Ser233Leu | 81 | Details |
| ACVRL1 | Exon 06 | Deletion/Frameshift | c.704delA | p.Asp235fsX257 | 35 | Details |
| ACVRL1 | Exon 06 | Missense | c.709C>A | p.Gln237Lys | 69 | Details |
| ACVRL1 | Exon 06 | Nonsense | c.709T>C | p.Gly237X | 72 | Details |
| ACVRL1 | Exon 06 | Nonsense | c.716G>A | p.Trp239X | 73 | Details |
| ACVRL1 | Exon 06 | In-frame Deletion | c.759_761delCGA | p.Asp254del | 23, 78 | Details |
| ACVRL1 | exon 06 | Nonsense | c.663 G>A | p.W221X | | Details |
| ACVRL1 | Intron 06 | Unknown | c.772+27G>C | Unknown | | Details |
| ACVRL1 | Intron 06 | Splice Defect | c.773-2A>G | Unknown | 35 | Details |
| ACVRL1 | Exon 07 | Missense | c.778A>C | p.Ile260Leu | 69 | Details |
| ACVRL1 | Exon 07 | Missense | c.793A>C | p.Thr265Pro | 81 | Details |
| ACVRL1 | Exon 07 | Deletion/Frameshift | c.810_822delCACGCAGC ... | p.Ser271fsX296 ... | 27 | Details |
| ACVRL1 | Exon 07 | Missense | c.818T>C | p.Leu273Pro | 48 | Details |
| ACVRL1 | Exon 07 | Insertion/Frameshift | c.824_825insGGCT | p.Lys273fsX392 | 74 | Details |
| ACVRL1 | Exon 07 | Missense | c.827T>C | p.Ile276Thr | 48 | Details |
| ACVRL1 | Exon 07 | Insertion/Frameshift | c.838_846dupCACGAGCA ... | p.His280_His282dup ... | 49 | Details |
| ACVRL1 | Exon 07 | Missense | c.838C>A | p.His280Asp | 72 | Details |
| ACVRL1 | Exon 07 | Nonsense | c.841G>T | p.Glu281X | | Details |
| ACVRL1 | Exon 07 | Deletion/Frameshift | c.842delA | p.Glu281fs | 60 | Details |
| ACVRL1 | Exon 07 | Missense | c.851C>T | p.Ser284Phe | 48 | Details |
| ACVRL1 | Exon 07 | Missense | c.853C>T | p.Leu285Phe | 35 | Details |
| ACVRL1 | Exon 07 | Nonsense | c.858C>A | p.Tyr286X | 27, 47, 65, 70 | Details |
| ACVRL1 | Exon 07 | Insertion/Frameshift | c.864_865insT | p.Leu289fs | 40 | Details |
| ACVRL1 | Exon 07 | Missense | c.866T>C | p.Leu289Pro | 69 | Details |
| ACVRL1 | Exon 07 | Nonsense | c.874C>T | p.Q292X | | Details |
| ACVRL1 | Exon 07 | Missense | c.875A>C | p.Gln292Pro | 60, 72 | Details |
| ACVRL1 | Exon 07 | Missense | c.890A>G | p.His297Arg | 67 | Details |
| ACVRL1 | Exon 07 | Missense | c.905T>G | p.Leu302Arg | 60 | Details |
| ACVRL1 | Exon 07 | | c.913delT | p.Ser305fs | | Details |
| ACVRL1 | Exon 07 | Frameshift | c.913delT | p.Ser305fs | 79 | Details |
| ACVRL1 | Exon 07 | Missense | c.913T>C | p.Ser305Pro | 48 | Details |
| ACVRL1 | Exon 07 | Missense | c.916G>C | p.Ala306Pro | 35 | Details |
| ACVRL1 | exon 07 | Insertion/Frameshift | c.921_927dupATGCGGC | p.L310fs | | Details |
| ACVRL1 | Exon 07 | Nonsense | c.924C>A | p.Cys308X | 40, 65, 69 | Details |
| ACVRL1 | Exon 07 | Missense | c.925G>T | Gly309Cys | 72 | Details |
| ACVRL1 | Exon 07 | Missense | c.925G>A | p.Gly309Ser | 47, 78 | Details |
| ACVRL1 | Exon 07 | Missense | c.940C>T | p.His314Tyr | 35, 60, 69 | Details |
| ACVRL1 | Exon 07 | Missense | c.956G>A | p.Gly319Asp | 72 | Details |
| ACVRL1 | Exon 07 | Nonsense | c.961C>T | p.Gln321X | 47, 65, 70 | Details |
| ACVRL1 | Exon 07 | Deletion/Frameshift | c.972delA | p.Pro324fsX353 | 13, 35 | Details |
| ACVRL1 | Exon 07 | Missense | c.983A>C | p.His328Pro | 67 | Details |
| ACVRL1 | Exon 07 | Missense | c.983A>C | P.His328Pro | 67 | Details |
| ACVRL1 | Exon 07 | Missense | c.986G>A | p.Arg329His | 24 | Details |
| ACVRL1 | Exon 07 | Missense | c.988G>A | p.Asp330Asn | 47 | Details |
| ACVRL1 | Exon 07 | Missense | c.988G>T | p.Asp330Tyr | 27, 47, 65 | Details |
| ACVRL1 | Exon 07 | Missense | c.992T>C | p.Phe331Ser | 69 | Details |
| ACVRL1 | Exon 07 | Missense | c.997A>G | p.Ser333Gly | 60 | Details |
| ACVRL1 | Exon 07 | Missense | c.998G>T | p.Ser333Ile | 26, 30, 40, 51, 66 | Details |
| ACVRL1 | Exon 07 | Deletion/Frameshift | c.1000_1005delCGCAAT ... | p.Arg334Asn335delfs ... | 52 | Details |
| ACVRL1 | Exon 07 | Missense | c.1010T>C | p.Leu337Pro | 35 | Details |
| ACVRL1 | Exon 07 | Deletion/Frameshift | c.1010delT | p.Leu337fsX16 | 72 | Details |
| ACVRL1 | Exon 07 | Missense | c.1023C>G | p.Asn341Lys | 52, 66 | Details |
| ACVRL1 | Exon 07 | Nonsense | c.1027C>T | p.Q343X | | Details |
| ACVRL1 | Exon 07 | Missense | c.1030T>C | p.Cys344Arg | 66, 69, 78 | Details |
| ACVRL1 | exon 07 | Missense | c.1030T>C | p.C344R | | Details |
| ACVRL1 | Exon 07 | Missense | c.1031G>T | p.Cys344Phe | 26, 27 | Details |
| ACVRL1 | Exon 07 | Missense | c.1031G>A | p.Cys344Tyr | 26, 50, 60, 66, 68, 69, 78 | Details |
| ACVRL1 | Exon 07 | Missense | c.1039G>C | p.Ala347Pro | 27, 35 | Details |
| ACVRL1 | Exon 07 | Deletion/Frameshift | c.1042delG | p.Asp348fs | 47 | Details |
| ACVRL1 | Exon 07 | Missense | c.1048G>C | p.Gly350Arg | 47, 78 | Details |
| ACVRL1 | Exon 07 | Missense | c.1048G>A | p.Gly350Ser | 60 | Details |
| ACVRL1 | Exon 07 | Nonsense | c858C>G | p.Tyr286X | 72 | Details |
| ACVRL1 | intron 07 | Splice Defect | c.1048+5G>T | r.sp1 | | Details |
| ACVRL1 | Intron 07 | Splice Defect | c.1049-4_1049-2delAC ... | Unknown ... | 65 | Details |
| ACVRL1 | Intron 07 | Unknown | c1048+1G>A | unknown | 72 | Details |
| ACVRL1 | Exon 08 | Missense | c.1054G>C | p.Ala352Pro | 27 | Details |
| ACVRL1 | Exon 08 | Missense | c.1055C>A | p.Ala352Asp | 73 | Details |
| ACVRL1 | Exon 08 | Deletion/Frameshift | c.1061_1068delTGCACT ... | p.Met354fs ... | 47, 69 | Details |
| ACVRL1 | Exon 08 | Missense | c.1061T>A | p.Met354Lys | 68 | Details |
| ACVRL1 | Exon 08 | Nonsense | c.1069C>T | p.Gln357X | 48, 69 | Details |
| ACVRL1 | Exon 08 | Deletion/Frameshift | c.1071delG | p.Gln357fs | 47 | Details |
| ACVRL1 | Exon 08 | Insertion/Frameshift | c.1080_1099dupGCACTC ... | p.Tyr361fs ... | 27 | Details |
| ACVRL1 | Exon 08 | Deletion/Frameshift | c.1107_1108delAG | p.Arg369fs | 47 | Details |
| ACVRL1 | Exon 08 | Insertion/Frameshift | c.1112_1113dupG | p.Gly371fsX391 | 24, 26, 35, 51, 66, 72 | Details |
| ACVRL1 | Exon 08 | Missense | c.1115C>T | p.Thr372Ile | 65, 68 | Details |
| ACVRL1 | Exon 08 | Missense | c.1120C>T | p.Arg374Trp | 24, 31, 36, 40, 47, 48, 49, 50, 61, 62, 63, 65, 66, 67, 68, 69, 72, 78 | Details |
| ACVRL1 | Exon 08 | In-frame Deletion | c.1120_1137del18 | p.Arg374_Glu379del | 47 | Details |
| ACVRL1 | Exon 08 | Missense | c.1121G>A | p.Arg374Gln | 24, 35, 47, 51, 54, 66, 78 | Details |
| ACVRL1 | Exon 08 | Missense | c.1123T>C | p.Tyr375His | 24, 51 | Details |
| ACVRL1 | Exon 08 | Insertion/Frameshift | c.1125_1126insGTAC | p.Met376fsX392 | 35 | Details |
| ACVRL1 | Exon 08 | Missense | c.1126A>G | p.Met376Val | 35, 69, 78 | Details |
| ACVRL1 | Exon 08 | Missense | c.1127T>C | p.Met376Thr | 67 | Details |
| ACVRL1 | Exon 08 | Missense | c.1127T>A | p.Met376Lys | 74 | Details |
| ACVRL1 | Exon 08 | Missense | c.1127T>G | p.Met376Arg | 29, 40, 68 | Details |
| ACVRL1 | Exon 08 | Missense | c.1129G>A | p.Ala377Thr | 67 | Details |
| ACVRL1 | Exon 08 | Missense | c.1133C>T | p.Pro378Leu | 27 | Details |
| ACVRL1 | Exon 08 | Missense | c.1133C>A | p.Pro378His | 48 | Details |
| ACVRL1 | Exon 08 | Missense | c.1135G>A | p.Glu379Lys | 35, 49, 61, 65 | Details |
| ACVRL1 | Exon 08 | Missense | c.1139T>G | p.Val380Gly | 47, 74 | Details |
| ACVRL1 | Exon 08 | Missense | c.1157G>A | p.Arg386His | 48 | Details |
| ACVRL1 | Exon 08 | Nonsense | c.1171G>T | p.Glu391X | 2, 24, 69 | Details |
| ACVRL1 | Exon 08 | Missense | c.1189G>A | p.Asp397Asn | 47 | Details |
| ACVRL1 | Exon 08 | Missense | c.1190A>G | p.Asp397Gly | 35 | Details |
| ACVRL1 | Exon 08 | Missense | c.1193T>A | p.Ile398Asp | 31, 49 | Details |
| ACVRL1 | Exon 08 | Missense | c.1196G>C | p.Trp399Ser | 50 | Details |
| ACVRL1 | Exon 08 | Missense | c.1199C>A | p.Ala400Glu | 27, 74 | Details |
| ACVRL1 | Exon 08 | Missense | c.1204G>A | p.Gly402Ser | 52, 66, 79 | Details |
| ACVRL1 | exon 08 | Missense | c.1205 G>A | p.G402D | | Details |
| ACVRL1 | Exon 08 | Missense | c.1208T>C | p.Leu403Pro | 65, 70, 81 | Details |
| ACVRL1 | Exon 08 | Missense | c.1218G>T | p.Trp406Cys | 65 | Details |
| ACVRL1 | Exon 08 | Missense | c.1218G>C | p.Trp406Cys | 47 | Details |
| ACVRL1 | Exon 08 | Missense | c.1221G>T | p.Glu407Asp | 26, 51, 61 | Details |
| ACVRL1 | Exon 08 | Missense | c.1231C>T | p.Arg411Trp | 23, 24, 35, 47, 48, 51, 53, 60, 61, 65, 68, 69 | Details |
| ACVRL1 | Exon 08 | Missense | c.1232G>A | p.Arg411Gln | 21, 24, 29, 35, 40, 49, 50, 51, 60, 65, 66, 69, 74, 78 | Details |
| ACVRL1 | Exon 08 | Missense | c.1232G>C | p.Arg411Pro | 35, 78 | Details |
| ACVRL1 | Exon 8 | | c.1232G>A | Arg411Gln | | Details |
| ACVRL1 | Exon 08 | Unknown | c.1246G>A | p.Gly416Ser | 72, 81 | Details |
| ACVRL1 | Intron 08 | Splice Defect | c.1246+1G>A | Unknown | 69 | Details |
| ACVRL1 | Intron 08 | Splice Defect | c.1246+2T>G | Unknown | 65 | Details |
| ACVRL1 | Intron 08 | Unknown | c1246+5G>A | unknown | | Details |
| ACVRL1 | Exon 09 | In-frame Deletion | c.1247_1512del | p.Gly416_Gln503del | 73 | Details |
| ACVRL1 | Exon 09 | Nonsense | c.1250_1269del20 | p.Ile417fsX4 | | Details |
| ACVRL1 | exon 09 | Missense | c.1261 T>G | p.Y421D | | Details |
| ACVRL1 | Exon 09 | Deletion/Frameshift | c.1269delA | p.Phe425fs | 68 | Details |
| ACVRL1 | Exon 09 | Missense | c.1270C>T | p.Pro424Ser | 48 | Details |
| ACVRL1 | Exon 09 | Missense | c.1270C>A | p.Pro424Thr | 40 | Details |
| ACVRL1 | Exon 09 | Missense | c.1271C>T | p.Pro424Leu | 47 | Details |
| ACVRL1 | Exon 09 | Missense | c.1273T>G | p.Phe425Val | 61 | Details |
| ACVRL1 | Exon 09 | In-frame Deletion | c.1274_1276delTCT | p.Phe425del | 61 | Details |
| ACVRL1 | Exon 09 | Missense | c.1275C>G | p.Phe425Leu | 35, 65, 69 | Details |
| ACVRL1 | Exon 09 | Missense | c.1276A>G | p.Tyr426Cys | 69 | Details |
| ACVRL1 | Exon 09 | Missense | c.1280A>T | p.Asp427Val | 65, 72 | Details |
| ACVRL1 | Exon 09 | Missense | c.1297C>T | p.Pro433Ser | 47 | Details |
| ACVRL1 | Exon 09 | Missense | c.1298C>G | p.Pro433Arg | 69 | Details |
| ACVRL1 | Exon 09 | Deletion/Frameshift | c.1299delC | p.Pro433fsX438 | 24, 40, 51 | Details |
| ACVRL1 | Exon 09 | Deletion/Frameshift | c.1302_1303delCTinsA | p.Ser434fs | 81 | Details |
| ACVRL1 | Exon 09 | Missense | c.1313T>C | p.Met438Thr | 47 | Details |
| ACVRL1 | Exon 09 | In-frame Deletion | c.1318_1320delAAG | p.Lys440del | 69 | Details |
| ACVRL1 | Exon 09 | Missense | c.1321G>A | p.Val441Met | 48, 65 | Details |
| ACVRL1 | Exon 09 | Missense | c.1346C>T | p.Pro449Leu | 68 | Details |
| ACVRL1 | Exon 09 | Missense | c.1355C>T | p.Pro452Leu | 48, 69 | Details |
| ACVRL1 | Exon 09 | Missense | c1436G>A | pArg479Gln | 72 | Details |
| ACVRL1 | Exon 09 | Nonsense | c.1336C>T | p.Q446X | | Details |
| ACVRL1 | Intron 09 | Splice Defect | c.1377+1G>A | Unknown | 61 | Details |
| ACVRL1 | intron 09 | Splice Defect | c.1378-1G>T | r.sp1 | | Details |
| ACVRL1 | Intron 09 | Splice Defect | c.1378-2A>G | Unknown | 68 | Details |
| ACVRL1 | Exon 10 | In-frame Deletion | c.1378_1512del | p.Val460_Gln503del | 73 | Details |
| ACVRL1 | Exon 10 | Nonsense | c.1385C>G | p.Ser462X | 36 | Details |
| ACVRL1 | Exon 10 | Nonsense | c.1408G>T | p.Glu470X | 47 | Details |
| ACVRL1 | Exon 10 | Nonsense | c.1413C>A | p.Cys471X | 69 | Details |
| ACVRL1 | Exon 10 | Insertion/Frameshift | c.1428_1429dupC | p.Ser477fsX493 | 35 | Details |
| ACVRL1 | Exon 10 | Nonsense | c.1435C>T | p.Arg479X | 35, 36, 47, 48, 65, 69, 74, 76, 78 | Details |
| ACVRL1 | Exon 10 | Missense | c.1436G>T | p.Arg479Leu | 35 | Details |
| ACVRL1 | Exon 10 | Missense | c.1436G>A | p.Arg479Glu | 66, 78 | Details |
| ACVRL1 | exon 10 | Missense | c.1450 C>T | p.R484W | | Details |
| ACVRL1 | Exon 10 | Missense | c.1450C>T | p.Arg484Trp | 23, 35, 47, 65, 74 | Details |
| ACVRL1 | Exon 10 | InDel/Frameshift | c.1450C>T, 1450_1451 ... | p.Arg484TrpfsX493 ... | 36 | Details |
| ACVRL1 | Exon 10 | Insertion/Frameshift | c.1452insA | p.Ile485fs | 69 | Details |
| ACVRL1 | Exon 10 | Missense | c.1460A>C | p.Lys487Thr | 50 | Details |
| ACVRL1 | Exon 10 | Nonsense | c.1468C>T | p.Gln490X | 23, 65, 75 | Details |
| ACVRL1 | Exon 10 | Missense | c.1475T>A | p.Ile492Asn | 64 | Details |