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160 records found for search term C4b
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150521673CV1289114single nucleotide variantNM_001002029.4(C4B):c.3676+1G>AComplement component 4b deficiency [RCV001725878]likely pathogenic63202933932029339Human2name , alternate_id
40814966CV970181single nucleotide variantNM_001002029.4(C4B):c.4876+50C>Tnot specified [RCV001261657]benign63203438132034381Humanname
404989913CV2849557single nucleotide variantNM_001002029.4(C4B):c.3285C>A (p.Gly1095=)not specified [RCV003490414]benign63202874732028747Human9name
126730497CV985969duplicationNM_001002029.4(C4B):c.723dup (p.Glu242Ter)Complement component 4b deficiency [RCV001294182]pathogenic63201658632016587Human1name , alternate_id
150439556CV1274818single nucleotide variantNM_001002029.4(C4B):c.2719A>G (p.Thr907Ala)not provided [RCV001703353]|not specified [RCV001729968]benign|likely benign63202736232027362Humanname
156137116CV2196233single nucleotide variantNM_001002029.4(C4B):c.2689G>C (p.Val897Leu)not specified [RCV004073587]uncertain significance63202733232027332Humanname
156247204CV2215311single nucleotide variantNM_001002029.4(C4B):c.2747G>A (p.Arg916Gln)not specified [RCV004087342]uncertain significance63202739032027390Humanname
155916567CV2282145single nucleotide variantNM_001002029.4(C4B):c.2513G>A (p.Arg838His)not specified [RCV004138878]uncertain significance63202704332027043Humanname
156300376CV2306950single nucleotide variantNM_001002029.4(C4B):c.2465C>G (p.Ala822Gly)not specified [RCV004157469]uncertain significance63202699532026995Humanname
156329042CV2332343single nucleotide variantNM_001002029.4(C4B):c.2502C>G (p.His834Gln)not specified [RCV004182508]uncertain significance63202703232027032Humanname
156332440CV2339782single nucleotide variantNM_001002029.4(C4B):c.2482C>T (p.Arg828Trp)not provided [RCV005242345]|not specified [RCV004196478]likely benign|uncertain significance63202701232027012Humanname
155910892CV2366711single nucleotide variantNM_001002029.4(C4B):c.2503C>G (p.Leu835Val)not specified [RCV004210712]uncertain significance63202703332027033Humanname
401875499CV2766075single nucleotide variantNM_001002029.4(C4B):c.2555G>A (p.Arg852Gln)not specified [RCV004340532]uncertain significance63202708532027085Humanname
405734693CV3295259single nucleotide variantNM_001002029.4(C4B):c.2513G>T (p.Arg838Leu)not specified [RCV004429804]uncertain significance63202704332027043Humanname
405734700CV3295260single nucleotide variantNM_001002029.4(C4B):c.2521A>G (p.Met841Val)not specified [RCV004429805]likely benign63202705132027051Humanname
405734707CV3295261single nucleotide variantNM_001002029.4(C4B):c.2726T>C (p.Val909Ala)not specified [RCV004429806]uncertain significance63202736932027369Humanname
407496050CV3427917single nucleotide variantNM_001002029.4(C4B):c.2554C>T (p.Arg852Trp)not specified [RCV004605997]uncertain significance63202708432027084Humanname
597750638CV3640531single nucleotide variantNM_001002029.4(C4B):c.2668C>A (p.Pro890Thr)not specified [RCV004892540]uncertain significance63202731132027311Humanname
597793603CV3640532single nucleotide variantNM_001002029.4(C4B):c.2599G>A (p.Val867Ile)not specified [RCV004903041]uncertain significance63202724232027242Humanname
597793606CV3640533single nucleotide variantNM_001002029.4(C4B):c.2586C>A (p.Asn862Lys)not specified [RCV004903042]uncertain significance63202711632027116Humanname
598188599CV3946255single nucleotide variantNM_001002029.4(C4B):c.2531G>A (p.Arg844His)not specified [RCV005312211]uncertain significance63202706132027061Humanname
150330344CV970217single nucleotide variantNM_001002029.3(C4B):c.1040C>A (p.Ser347Tyr)not specified [RCV001537851]benign63201714132017141Humanname
126744475CV1020246single nucleotide variantNM_001002029.3(C4B):c.3442G>A (p.Ala1148Thr)Complement component 4b deficiency [RCV001337037]uncertain significance63202899932028999Human2name , alternate_id
156237450CV2206881single nucleotide variantNM_001002029.4(C4B):c.3898C>T (p.Arg1300Cys)not specified [RCV004083550]uncertain significance63202978732029787Humanname
156107522CV2214226single nucleotide variantNM_001002029.4(C4B):c.3304G>A (p.Glu1102Lys)not specified [RCV004086220]uncertain significance63202876632028766Humanname
155982205CV2233160single nucleotide variantNM_001002029.4(C4B):c.4027G>A (p.Ala1343Thr)not specified [RCV004103773]uncertain significance63202999832029998Humanname
155987683CV2248117single nucleotide variantNM_001002029.3(C4B):c.4054C>A (p.Arg1352Ser)not specified [RCV004115380]uncertain significance63203002532030025Humanname
156073826CV2248133single nucleotide variantNM_001002029.4(C4B):c.3875A>G (p.Gln1292Arg)not specified [RCV004117537]uncertain significance63202976432029764Humanname
155973309CV2271628single nucleotide variantNM_001002029.4(C4B):c.3200C>T (p.Ala1067Val)not specified [RCV004130491]uncertain significance63202850232028502Humanname
156085831CV2289872single nucleotide variantNM_001002029.4(C4B):c.3559C>T (p.Leu1187Phe)not specified [RCV004150532]uncertain significance63202922132029221Humanname
156233914CV2346240single nucleotide variantNM_001002029.4(C4B):c.3439A>G (p.Ile1147Val)not provided [RCV004598252]|not specified [RCV004203735]likely benign|uncertain significance63202899632028996Humanname
329366202CV2438225single nucleotide variantNM_001002029.4(C4B):c.4045C>T (p.Arg1349Cys)not specified [RCV004256992]uncertain significance63203001632030016Humanname
329401387CV2460852single nucleotide variantNM_001002029.4(C4B):c.3871C>T (p.Arg1291Cys)not specified [RCV004271158]uncertain significance63202976032029760Humanname
329362208CV2466180single nucleotide variantNM_001002029.4(C4B):c.3775G>A (p.Ala1259Thr)not specified [RCV004279826]uncertain significance63202966432029664Humanname
401893563CV2763662single nucleotide variantNM_001002029.4(C4B):c.4055G>T (p.Arg1352Leu)not specified [RCV004343165]uncertain significance63203002632030026Humanname
401858266CV2766447single nucleotide variantNM_001002029.4(C4B):c.3742C>T (p.Arg1248Cys)not specified [RCV004347077]uncertain significance63202963132029631Humanname
405734722CV3291374single nucleotide variantNM_001002029.4(C4B):c.3734C>T (p.Pro1245Leu)not specified [RCV004429808]likely benign63202962332029623Humanname
405734732CV3291375single nucleotide variantNM_001002029.4(C4B):c.3899G>A (p.Arg1300His)not specified [RCV004429809]uncertain significance63202978832029788Humanname
405734712CV3295262single nucleotide variantNM_001002029.4(C4B):c.3634G>A (p.Val1212Ile)not specified [RCV004429807]uncertain significance63202929632029296Humanname
407496047CV3427916single nucleotide variantNM_001002029.4(C4B):c.3632G>T (p.Gly1211Val)not specified [RCV004605996]uncertain significance63202929432029294Humanname
407496053CV3427918single nucleotide variantNM_001002029.4(C4B):c.3238G>A (p.Ala1080Thr)not specified [RCV004605998]uncertain significance63202870032028700Humanname
407500874CV3427919single nucleotide variantNM_001002029.4(C4B):c.3383T>C (p.Met1128Thr)not specified [RCV004607238]uncertain significance63202884532028845Humanname
407496056CV3427921single nucleotide variantNM_001002029.4(C4B):c.4004G>C (p.Gly1335Ala)not specified [RCV004605999]uncertain significance63202997532029975Humanname
597623009CV3552249single nucleotide variantNM_001002029.4(C4B):c.3214C>T (p.Arg1072Trp)Complement component 4b deficiency [RCV004821107]uncertain significance63202851632028516Human2name , alternate_id
597793609CV3640534single nucleotide variantNM_001002029.4(C4B):c.3971A>G (p.Glu1324Gly)not specified [RCV004903043]uncertain significance63202994232029942Humanname
597750633CV3640535single nucleotide variantNM_001002029.4(C4B):c.3628C>T (p.Arg1210Trp)not specified [RCV004892541]uncertain significance63202929032029290Humanname
597793612CV3640536single nucleotide variantNM_001002029.4(C4B):c.3464T>C (p.Val1155Ala)not specified [RCV004903044]uncertain significance63202902132029021Humanname
12896333CV389728single nucleotide variantNM_001002029.4(C4B):c.3527G>A (p.Ser1176Asn)not specified [RCV000455206]benign63202918932029189Humanname
598188593CV3946254single nucleotide variantNM_001002029.4(C4B):c.3541G>A (p.Glu1181Lys)not specified [RCV005312210]uncertain significance63202920332029203Humanname
598188606CV3946256single nucleotide variantNM_001002029.4(C4B):c.3229T>G (p.Trp1077Gly)not specified [RCV005312212]uncertain significance63202853132028531Humanname
598188614CV3946257single nucleotide variantNM_001002029.4(C4B):c.4007G>A (p.Arg1336Gln)not specified [RCV005312213]uncertain significance63202997832029978Humanname
598188622CV3946258single nucleotide variantNM_001002029.4(C4B):c.3742C>G (p.Arg1248Gly)not specified [RCV005312214]uncertain significance63202963132029631Humanname
42722781CV985233duplicationNM_001002029.4(C4B):c.3694_3695dup (p.Val1233fs)not provided [RCV003431775]pathogenic|benign63202958132029582Humanname
150451068CV1261030single nucleotide variantNM_000715.4(C4BPA):c.889+19A>Gnot provided [RCV001680699]benign1207126914207126914Humanname
150439903CV1266841single nucleotide variantNM_000715.4(C4BPA):c.515-36G>Cnot provided [RCV001690277]benign1207124139207124139Humanname
150444019CV1277935single nucleotide variantNM_000715.4(C4BPA):c.428+37T>Cnot provided [RCV001707078]benign1207115552207115552Humanname
40903332CV975890deletionNM_001002029.3:c.(?_3231)_(3387_?)delComplement component 4b deficiency [RCV001269335]pathogenicHuman2alternate_id
150501151CV1223639single nucleotide variantNM_000715.4(C4BPA):c.1274-63C>Tnot provided [RCV001620760]benign1207141043207141043Humanname
150500860CV1238265deletionNM_000715.4(C4BPA):c.328+226delnot provided [RCV001656695]benign1207114486207114486Humanname
150499435CV1254358single nucleotide variantNM_000715.4(C4BPA):c.143-258C>Tnot provided [RCV001676532]benign1207113842207113842Humanname
150468554CV1267951single nucleotide variantNM_000715.4(C4BPA):c.142+245T>Cnot provided [RCV001694814]benign1207113412207113412Humanname
150459250CV1269773single nucleotide variantNM_000715.4(C4BPA):c.1274-95A>Cnot provided [RCV001693313]benign1207141011207141011Humanname
150473566CV1272192single nucleotide variantNM_000715.4(C4BPA):c.889+141T>Anot provided [RCV001695730]benign1207127036207127036Humanname
150477086CV1262452single nucleotide variantNM_001017365.3(C4BPB):c.58+46T>Gnot provided [RCV001685265]benign1207089635207089635Humanname
150472302CV1270233single nucleotide variantNM_000715.4(C4BPA):c.1621-101G>Cnot provided [RCV001695521]benign1207144443207144443Humanname
401936747CV2816015single nucleotide variantNM_001017365.3(C4BPB):c.409+8C>Anot provided [RCV003414741]likely benign1207091828207091828Humanname
12896010CV389356single nucleotide variantNM_001017365.3(C4BPB):c.410-9T>Cnot provided [RCV001692098]|not specified [RCV000454757]benign1207096513207096513Human2name
12896010CV389356single nucleotide variantNM_001017365.3(C4BPB):c.410-9T>Cnot provided [RCV001692098]|not specified [RCV000454757]benign1207096513207096514Human2name
12896464CV389372single nucleotide variantNM_001017365.3(C4BPB):c.232+3A>Gnot provided [RCV001537324]|not specified [RCV000455378]benign1207090484207090484Humanname
150451282CV1276574single nucleotide variantNM_001017365.3(C4BPB):c.59-114C>Tnot provided [RCV001708363]benign1207090194207090194Humanname
12896707CV389355single nucleotide variantNM_001017365.3(C4BPB):c.410-12C>Tnot provided [RCV004713979]|not specified [RCV000455710]benign1207096510207096510Humanname
150330886CV1168807single nucleotide variantNM_001017365.3(C4BPB):c.618+253T>Gnot provided [RCV001536194]benign1207098517207098517Humanname
150468921CV1249009single nucleotide variantNM_001017365.3(C4BPB):c.409+265G>Anot provided [RCV001670770]benign1207092085207092085Humanname
405268954CV3199154duplicationNM_001017365.3(C4BPB):c.504-21_504-3dupC4BPB-related disorder [RCV003912256]likely benign1207098127207098128Humanname , trait , alternate_id
401927319CV2796878single nucleotide variantNM_000715.4(C4BPA):c.640T>A (p.Ser214Thr)C4BPA-related disorder [RCV003406149]uncertain significance1207124300207124300Humanname , trait , alternate_id
405259309CV3194719single nucleotide variantNM_000715.4(C4BPA):c.1066C>T (p.Pro356Ser)C4BPA-related disorder [RCV003894111]uncertain significance1207131722207131722Humanname , trait , alternate_id
405275193CV3204688single nucleotide variantNM_000715.4(C4BPA):c.1291A>G (p.Lys431Glu)C4BPA-related disorder [RCV003952084]uncertain significance1207141123207141123Humanname , trait , alternate_id
405286472CV3205364single nucleotide variantNM_001017365.3(C4BPB):c.520G>A (p.Val174Met)C4BPB-related disorder [RCV003959551]likely benign1207098166207098166Humanname , trait , alternate_id
405265839CV3220876single nucleotide variantNM_000715.4(C4BPA):c.1154A>G (p.Asn385Ser)C4BPA-related disorder [RCV003969043]uncertain significance1207134473207134473Humanname , trait , alternate_id
408385160CV3505636single nucleotide variantNM_000715.4(C4BPA):c.182C>T (p.Pro61Leu)C4BPA-related disorder [RCV004732381]uncertain significance1207114139207114139Humanname , trait , alternate_id
408383982CV3506038duplicationNM_000715.4(C4BPA):c.372dup (p.Glu125fs)C4BPA-related disorder [RCV004731377]uncertain significance1207115458207115459Humanname , trait , alternate_id
15166952CV718576single nucleotide variantNM_000715.4(C4BPA):c.39A>G (p.Arg13=)not provided [RCV000882748]benign1207113064207113064Humanname
150436793CV1220605single nucleotide variantNM_000715.4(C4BPA):c.11C>A (p.Pro4Gln)not provided [RCV001609589]benign1207113036207113036Humanname
156127702CV2351248single nucleotide variantNM_000715.4(C4BPA):c.20C>T (p.Pro7Leu)not specified [RCV004214094]uncertain significance1207113045207113045Humanname
15112679CV707031single nucleotide variantNM_000715.4(C4BPA):c.10C>G (p.Pro4Ala)not provided [RCV000961346]benign1207113035207113035Humanname
155972229CV2228104single nucleotide variantNM_000715.4(C4BPA):c.70A>G (p.Arg24Gly)not specified [RCV004096330]uncertain significance1207113095207113095Humanname
155966530CV2284376single nucleotide variantNM_000715.4(C4BPA):c.29C>T (p.Ala10Val)not specified [RCV004146717]uncertain significance1207113054207113054Humanname
156171968CV2326747single nucleotide variantNM_000715.4(C4BPA):c.58T>C (p.Trp20Arg)not specified [RCV004176591]uncertain significance1207113083207113083Humanname
156383011CV2363118single nucleotide variantNM_000715.4(C4BPA):c.28G>A (p.Ala10Thr)not specified [RCV004211242]likely benign1207113053207113053Humanname
156193205CV2397957single nucleotide variantNM_000715.4(C4BPA):c.86C>T (p.Ser29Phe)not specified [RCV004241565]uncertain significance1207113111207113111Humanname
12896736CV389358single nucleotide variantNM_000715.4(C4BPA):c.675T>C (p.Gly225=)not provided [RCV001692097]|not specified [RCV000455756]benign1207124335207124335Humanname
598223142CV3893968single nucleotide variantNM_000715.4(C4BPA):c.825C>G (p.Gly275=)not provided [RCV005257211]likely benign1207126831207126831Humanname
15157995CV707032single nucleotide variantNM_000715.4(C4BPA):c.97C>G (p.Leu33Val)not provided [RCV000969420]benign1207113122207113122Humanname
150514978CV1228692single nucleotide variantNM_000715.4(C4BPA):c.1068A>C (p.Pro356=)not provided [RCV001638680]benign1207131724207131724Humanname
156336391CV2270716single nucleotide variantNM_000715.4(C4BPA):c.227C>T (p.Thr76Ile)not specified [RCV004131783]uncertain significance1207114184207114184Humanname
405695841CV3226683single nucleotide variantNM_000715.4(C4BPA):c.1629C>T (p.Pro543=)not provided [RCV003993076]likely benign1207144552207144552Humanname
405734754CV3291378single nucleotide variantNM_000715.4(C4BPA):c.152G>A (p.Gly51Asp)not specified [RCV004429812]likely benign1207114109207114109Humanname
407496063CV3427923single nucleotide variantNM_000715.4(C4BPA):c.152G>T (p.Gly51Val)not specified [RCV004606001]uncertain significance1207114109207114109Humanname
598188629CV3946259single nucleotide variantNM_000715.4(C4BPA):c.137T>G (p.Val46Gly)not specified [RCV005312215]uncertain significance1207113162207113162Humanname
15195122CV696423single nucleotide variantNM_000715.4(C4BPA):c.179C>T (p.Ala60Val)not provided [RCV000955835]benign1207114136207114136Humanname
15116353CV746025single nucleotide variantNM_001017365.3(C4BPB):c.66C>T (p.His22=)not provided [RCV000917612]benign1207090315207090315Humanname
150336488CV1164855single nucleotide variantNM_000715.4(C4BPA):c.719G>A (p.Arg240His)not provided [RCV001530867]benign1207126725207126725Humanname
156234135CV2223935single nucleotide variantNM_000715.4(C4BPA):c.980T>C (p.Val327Ala)not specified [RCV004094198]uncertain significance1207131636207131636Humanname
156339704CV2229325single nucleotide variantNM_000715.4(C4BPA):c.617G>A (p.Arg206His)not specified [RCV004101117]uncertain significance1207124277207124277Humanname
155983353CV2233294single nucleotide variantNM_000715.4(C4BPA):c.350G>A (p.Gly117Glu)not specified [RCV004105676]uncertain significance1207115437207115437Humanname
155915207CV2264967single nucleotide variantNM_000715.4(C4BPA):c.586G>A (p.Gly196Ser)not specified [RCV004134697]uncertain significance1207124246207124246Humanname
155959525CV2390547single nucleotide variantNM_000715.4(C4BPA):c.677T>C (p.Val226Ala)not specified [RCV004239080]uncertain significance1207124337207124337Humanname
405735244CV3291380single nucleotide variantNM_000715.4(C4BPA):c.605G>T (p.Ser202Ile)not specified [RCV004429814]uncertain significance1207124265207124265Humanname
405735237CV3291381single nucleotide variantNM_000715.4(C4BPA):c.733T>G (p.Ser245Ala)not specified [RCV004429815]uncertain significance1207126739207126739Humanname
405735227CV3291382single nucleotide variantNM_000715.4(C4BPA):c.787A>G (p.Ile263Val)not specified [RCV004429816]uncertain significance1207126793207126793Humanname
405735218CV3291383single nucleotide variantNM_000715.4(C4BPA):c.946C>T (p.Pro316Ser)not specified [RCV004429817]uncertain significance1207131602207131602Humanname
405735210CV3291384single nucleotide variantNM_000715.4(C4BPA):c.957G>C (p.Glu319Asp)not specified [RCV004429818]uncertain significance1207131613207131613Humanname
12896039CV389345single nucleotide variantNM_000715.4(C4BPA):c.899T>C (p.Ile300Thr)not provided [RCV001683473]|not specified [RCV000454800]benign1207131555207131555Human2name
12896039CV389345single nucleotide variantNM_000715.4(C4BPA):c.899T>C (p.Ile300Thr)not provided [RCV001683473]|not specified [RCV000454800]benign1207131555207131556Human2name
598188645CV3946261single nucleotide variantNM_000715.4(C4BPA):c.937T>C (p.Tyr313His)not specified [RCV005312217]uncertain significance1207131593207131593Humanname
598188657CV3946263single nucleotide variantNM_000715.4(C4BPA):c.329A>T (p.Tyr110Phe)not specified [RCV005312219]uncertain significance1207115416207115416Humanname
15112673CV707030single nucleotide variantNM_001017365.3(C4BPB):c.105C>T (p.Val35=)not provided [RCV000961345]benign1207090354207090354Humanname
15132749CV707033single nucleotide variantNM_000715.4(C4BPA):c.671T>C (p.Ile224Thr)not provided [RCV000964829]benign1207124331207124331Humanname
156065495CV2196940single nucleotide variantNM_000715.4(C4BPA):c.1504G>A (p.Val502Ile)not specified [RCV004071399]uncertain significance1207143877207143877Humanname
156035192CV2208076single nucleotide variantNM_000715.4(C4BPA):c.1762G>A (p.Ala588Thr)not specified [RCV004086765]uncertain significance1207144685207144685Humanname
156093265CV2300207single nucleotide variantNM_000715.4(C4BPA):c.1012C>A (p.Pro338Thr)not specified [RCV004151394]uncertain significance1207131668207131668Humanname
156198269CV2312907single nucleotide variantNM_000715.4(C4BPA):c.1144C>A (p.Arg382Ser)not specified [RCV004159421]uncertain significance1207134463207134463Humanname
156069918CV2341152single nucleotide variantNM_001017365.3(C4BPB):c.29T>C (p.Met10Thr)not specified [RCV004181627]uncertain significance1207089560207089560Humanname
156240061CV2350317single nucleotide variantNM_000715.4(C4BPA):c.1781A>G (p.Asp594Gly)not specified [RCV004202267]uncertain significance1207144704207144704Humanname
156137970CV2354512single nucleotide variantNM_000715.4(C4BPA):c.1375A>C (p.Ile459Leu)not specified [RCV004202497]uncertain significance1207141207207141207Humanname
156392303CV2378498single nucleotide variantNM_000715.4(C4BPA):c.1763C>T (p.Ala588Val)not specified [RCV004228552]uncertain significance1207144686207144686Humanname
329402713CV2451270single nucleotide variantNM_000715.4(C4BPA):c.1777T>G (p.Leu593Val)not specified [RCV004271970]uncertain significance1207144700207144700Humanname
401747783CV2689009single nucleotide variantNM_000715.4(C4BPA):c.1733T>C (p.Ile578Thr)not specified [RCV004305789]uncertain significance1207144656207144656Humanname
401723734CV2725012single nucleotide variantNM_001017365.3(C4BPB):c.35C>T (p.Ala12Val)not specified [RCV004319770]likely benign1207089566207089566Humanname
401885198CV2770998single nucleotide variantNM_001017365.3(C4BPB):c.56A>G (p.Asp19Gly)not specified [RCV004344015]uncertain significance1207089587207089587Humanname
405734739CV3291376single nucleotide variantNM_000715.4(C4BPA):c.1143T>G (p.Ser381Arg)not specified [RCV004429810]uncertain significance1207134462207134462Humanname
405734745CV3291377single nucleotide variantNM_000715.4(C4BPA):c.1468G>A (p.Val490Met)not specified [RCV004429811]uncertain significance1207143841207143841Humanname
405734767CV3291379single nucleotide variantNM_000715.4(C4BPA):c.1571C>A (p.Thr524Asn)not specified [RCV004429813]uncertain significance1207143944207143944Humanname
407496059CV3427922single nucleotide variantNM_000715.4(C4BPA):c.1144C>T (p.Arg382Cys)not specified [RCV004606000]uncertain significance1207134463207134463Humanname
407500884CV3427924single nucleotide variantNM_001017365.3(C4BPB):c.70C>G (p.Pro24Ala)not specified [RCV004607240]uncertain significance1207090319207090319Humanname
597793615CV3640537single nucleotide variantNM_000715.4(C4BPA):c.1565G>A (p.Ser522Asn)not specified [RCV004903045]likely benign1207143938207143938Humanname
597793617CV3640538single nucleotide variantNM_000715.4(C4BPA):c.1714T>C (p.Tyr572His)not specified [RCV004903046]uncertain significance1207144637207144637Humanname
12896475CV389341single nucleotide variantNM_001017365.3(C4BPB):c.462C>T (p.Asn154=)not provided [RCV001672751]|not specified [RCV000455392]benign1207096574207096574Human2name
12896475CV389341single nucleotide variantNM_001017365.3(C4BPB):c.462C>T (p.Asn154=)not provided [RCV001672751]|not specified [RCV000455392]benign1207096574207096575Human2name
598188636CV3946260single nucleotide variantNM_000715.4(C4BPA):c.1687G>A (p.Glu563Lys)not specified [RCV005312216]uncertain significance1207144610207144610Humanname
598188650CV3946262single nucleotide variantNM_000715.4(C4BPA):c.1018A>G (p.Thr340Ala)not specified [RCV005312218]uncertain significance1207131674207131674Humanname
15195129CV696424single nucleotide variantNM_000715.4(C4BPA):c.1454G>A (p.Arg485Gln)not provided [RCV000955836]benign1207143827207143827Humanname
15158865CV746026single nucleotide variantNM_001017365.3(C4BPB):c.582C>T (p.Ile194=)not provided [RCV000925164]likely benign1207098228207098228Humanname
401768651CV2685542single nucleotide variantNM_001017365.3(C4BPB):c.142G>C (p.Val48Leu)not specified [RCV004294558]likely benign1207090391207090391Humanname
405735204CV3291385single nucleotide variantNM_001017365.3(C4BPB):c.229C>T (p.Arg77Cys)not specified [RCV004429819]uncertain significance1207090478207090478Humanname
597793623CV3640541single nucleotide variantNM_001017365.3(C4BPB):c.153G>T (p.Lys51Asn)not specified [RCV004903048]uncertain significance1207090402207090402Humanname
597750624CV3640542single nucleotide variantNM_001017365.3(C4BPB):c.289G>A (p.Val97Met)not specified [RCV004892543]uncertain significance1207091700207091700Humanname
598211699CV3946264single nucleotide variantNM_001017365.3(C4BPB):c.153G>C (p.Lys51Asn)not specified [RCV005316056]uncertain significance1207090402207090402Humanname
156194430CV2214298single nucleotide variantNM_001017365.3(C4BPB):c.659A>C (p.Glu220Ala)not specified [RCV004086288]uncertain significance1207099829207099829Humanname
156069319CV2237121single nucleotide variantNM_001017365.3(C4BPB):c.666T>G (p.Phe222Leu)not specified [RCV004114874]uncertain significance1207099836207099836Humanname
329387527CV2436529single nucleotide variantNM_001017365.3(C4BPB):c.596A>C (p.Lys199Thr)not specified [RCV004251899]uncertain significance1207098242207098242Humanname
401768607CV2675481single nucleotide variantNM_001017365.3(C4BPB):c.352C>T (p.Arg118Trp)not specified [RCV004292273]likely benign1207091763207091763Humanname
401855252CV2757214single nucleotide variantNM_001017365.3(C4BPB):c.691A>G (p.Met231Val)not specified [RCV004338813]uncertain significance1207099861207099861Humanname
405735197CV3291386single nucleotide variantNM_001017365.3(C4BPB):c.311C>T (p.Thr104Met)not specified [RCV004429820]uncertain significance1207091722207091722Humanname
405735188CV3291387single nucleotide variantNM_001017365.3(C4BPB):c.585G>C (p.Gln195His)not specified [RCV004429821]uncertain significance1207098231207098231Humanname
597793625CV3640543single nucleotide variantNM_001017365.3(C4BPB):c.461A>G (p.Asn154Ser)not specified [RCV004903049]uncertain significance1207096573207096573Humanname
597750618CV3640544single nucleotide variantNM_001017365.3(C4BPB):c.688G>A (p.Gly230Ser)not specified [RCV004892544]uncertain significance1207099858207099858Humanname
597793629CV3640545single nucleotide variantNM_001017365.3(C4BPB):c.346A>G (p.Ser116Gly)not specified [RCV004903050]uncertain significance1207091757207091757Humanname
597750613CV3640546single nucleotide variantNM_001017365.3(C4BPB):c.310A>C (p.Thr104Pro)not specified [RCV004892545]uncertain significance1207091721207091721Humanname
598211704CV3946265single nucleotide variantNM_001017365.3(C4BPB):c.541G>A (p.Asp181Asn)not specified [RCV005316057]uncertain significance1207098187207098187Humanname