| 150521673 | CV1289114 | single nucleotide variant | NM_001002029.4(C4B):c.3676+1G>A | Complement component 4b deficiency [RCV001725878] | likely pathogenic | 6 | 32029339 | 32029339 | Human | 2 | name , alternate_id |
| 40814966 | CV970181 | single nucleotide variant | NM_001002029.4(C4B):c.4876+50C>T | not specified [RCV001261657] | benign | 6 | 32034381 | 32034381 | Human | | name |
| 404989913 | CV2849557 | single nucleotide variant | NM_001002029.4(C4B):c.3285C>A (p.Gly1095=) | not specified [RCV003490414] | benign | 6 | 32028747 | 32028747 | Human | 9 | name |
| 126730497 | CV985969 | duplication | NM_001002029.4(C4B):c.723dup (p.Glu242Ter) | Complement component 4b deficiency [RCV001294182] | pathogenic | 6 | 32016586 | 32016587 | Human | 1 | name , alternate_id |
| 150439556 | CV1274818 | single nucleotide variant | NM_001002029.4(C4B):c.2719A>G (p.Thr907Ala) | not provided [RCV001703353]|not specified [RCV001729968] | benign|likely benign | 6 | 32027362 | 32027362 | Human | | name |
| 156137116 | CV2196233 | single nucleotide variant | NM_001002029.4(C4B):c.2689G>C (p.Val897Leu) | not specified [RCV004073587] | uncertain significance | 6 | 32027332 | 32027332 | Human | | name |
| 156247204 | CV2215311 | single nucleotide variant | NM_001002029.4(C4B):c.2747G>A (p.Arg916Gln) | not specified [RCV004087342] | uncertain significance | 6 | 32027390 | 32027390 | Human | | name |
| 155916567 | CV2282145 | single nucleotide variant | NM_001002029.4(C4B):c.2513G>A (p.Arg838His) | not specified [RCV004138878] | uncertain significance | 6 | 32027043 | 32027043 | Human | | name |
| 156300376 | CV2306950 | single nucleotide variant | NM_001002029.4(C4B):c.2465C>G (p.Ala822Gly) | not specified [RCV004157469] | uncertain significance | 6 | 32026995 | 32026995 | Human | | name |
| 156329042 | CV2332343 | single nucleotide variant | NM_001002029.4(C4B):c.2502C>G (p.His834Gln) | not specified [RCV004182508] | uncertain significance | 6 | 32027032 | 32027032 | Human | | name |
| 156332440 | CV2339782 | single nucleotide variant | NM_001002029.4(C4B):c.2482C>T (p.Arg828Trp) | not provided [RCV005242345]|not specified [RCV004196478] | likely benign|uncertain significance | 6 | 32027012 | 32027012 | Human | | name |
| 155910892 | CV2366711 | single nucleotide variant | NM_001002029.4(C4B):c.2503C>G (p.Leu835Val) | not specified [RCV004210712] | uncertain significance | 6 | 32027033 | 32027033 | Human | | name |
| 401875499 | CV2766075 | single nucleotide variant | NM_001002029.4(C4B):c.2555G>A (p.Arg852Gln) | not specified [RCV004340532] | uncertain significance | 6 | 32027085 | 32027085 | Human | | name |
| 405734693 | CV3295259 | single nucleotide variant | NM_001002029.4(C4B):c.2513G>T (p.Arg838Leu) | not specified [RCV004429804] | uncertain significance | 6 | 32027043 | 32027043 | Human | | name |
| 405734700 | CV3295260 | single nucleotide variant | NM_001002029.4(C4B):c.2521A>G (p.Met841Val) | not specified [RCV004429805] | likely benign | 6 | 32027051 | 32027051 | Human | | name |
| 405734707 | CV3295261 | single nucleotide variant | NM_001002029.4(C4B):c.2726T>C (p.Val909Ala) | not specified [RCV004429806] | uncertain significance | 6 | 32027369 | 32027369 | Human | | name |
| 407496050 | CV3427917 | single nucleotide variant | NM_001002029.4(C4B):c.2554C>T (p.Arg852Trp) | not specified [RCV004605997] | uncertain significance | 6 | 32027084 | 32027084 | Human | | name |
| 597750638 | CV3640531 | single nucleotide variant | NM_001002029.4(C4B):c.2668C>A (p.Pro890Thr) | not specified [RCV004892540] | uncertain significance | 6 | 32027311 | 32027311 | Human | | name |
| 597793603 | CV3640532 | single nucleotide variant | NM_001002029.4(C4B):c.2599G>A (p.Val867Ile) | not specified [RCV004903041] | uncertain significance | 6 | 32027242 | 32027242 | Human | | name |
| 597793606 | CV3640533 | single nucleotide variant | NM_001002029.4(C4B):c.2586C>A (p.Asn862Lys) | not specified [RCV004903042] | uncertain significance | 6 | 32027116 | 32027116 | Human | | name |
| 598188599 | CV3946255 | single nucleotide variant | NM_001002029.4(C4B):c.2531G>A (p.Arg844His) | not specified [RCV005312211] | uncertain significance | 6 | 32027061 | 32027061 | Human | | name |
| 150330344 | CV970217 | single nucleotide variant | NM_001002029.3(C4B):c.1040C>A (p.Ser347Tyr) | not specified [RCV001537851] | benign | 6 | 32017141 | 32017141 | Human | | name |
| 126744475 | CV1020246 | single nucleotide variant | NM_001002029.3(C4B):c.3442G>A (p.Ala1148Thr) | Complement component 4b deficiency [RCV001337037] | uncertain significance | 6 | 32028999 | 32028999 | Human | 2 | name , alternate_id |
| 156237450 | CV2206881 | single nucleotide variant | NM_001002029.4(C4B):c.3898C>T (p.Arg1300Cys) | not specified [RCV004083550] | uncertain significance | 6 | 32029787 | 32029787 | Human | | name |
| 156107522 | CV2214226 | single nucleotide variant | NM_001002029.4(C4B):c.3304G>A (p.Glu1102Lys) | not specified [RCV004086220] | uncertain significance | 6 | 32028766 | 32028766 | Human | | name |
| 155982205 | CV2233160 | single nucleotide variant | NM_001002029.4(C4B):c.4027G>A (p.Ala1343Thr) | not specified [RCV004103773] | uncertain significance | 6 | 32029998 | 32029998 | Human | | name |
| 155987683 | CV2248117 | single nucleotide variant | NM_001002029.3(C4B):c.4054C>A (p.Arg1352Ser) | not specified [RCV004115380] | uncertain significance | 6 | 32030025 | 32030025 | Human | | name |
| 156073826 | CV2248133 | single nucleotide variant | NM_001002029.4(C4B):c.3875A>G (p.Gln1292Arg) | not specified [RCV004117537] | uncertain significance | 6 | 32029764 | 32029764 | Human | | name |
| 155973309 | CV2271628 | single nucleotide variant | NM_001002029.4(C4B):c.3200C>T (p.Ala1067Val) | not specified [RCV004130491] | uncertain significance | 6 | 32028502 | 32028502 | Human | | name |
| 156085831 | CV2289872 | single nucleotide variant | NM_001002029.4(C4B):c.3559C>T (p.Leu1187Phe) | not specified [RCV004150532] | uncertain significance | 6 | 32029221 | 32029221 | Human | | name |
| 156233914 | CV2346240 | single nucleotide variant | NM_001002029.4(C4B):c.3439A>G (p.Ile1147Val) | not provided [RCV004598252]|not specified [RCV004203735] | likely benign|uncertain significance | 6 | 32028996 | 32028996 | Human | | name |
| 329366202 | CV2438225 | single nucleotide variant | NM_001002029.4(C4B):c.4045C>T (p.Arg1349Cys) | not specified [RCV004256992] | uncertain significance | 6 | 32030016 | 32030016 | Human | | name |
| 329401387 | CV2460852 | single nucleotide variant | NM_001002029.4(C4B):c.3871C>T (p.Arg1291Cys) | not specified [RCV004271158] | uncertain significance | 6 | 32029760 | 32029760 | Human | | name |
| 329362208 | CV2466180 | single nucleotide variant | NM_001002029.4(C4B):c.3775G>A (p.Ala1259Thr) | not specified [RCV004279826] | uncertain significance | 6 | 32029664 | 32029664 | Human | | name |
| 401893563 | CV2763662 | single nucleotide variant | NM_001002029.4(C4B):c.4055G>T (p.Arg1352Leu) | not specified [RCV004343165] | uncertain significance | 6 | 32030026 | 32030026 | Human | | name |
| 401858266 | CV2766447 | single nucleotide variant | NM_001002029.4(C4B):c.3742C>T (p.Arg1248Cys) | not specified [RCV004347077] | uncertain significance | 6 | 32029631 | 32029631 | Human | | name |
| 405734722 | CV3291374 | single nucleotide variant | NM_001002029.4(C4B):c.3734C>T (p.Pro1245Leu) | not specified [RCV004429808] | likely benign | 6 | 32029623 | 32029623 | Human | | name |
| 405734732 | CV3291375 | single nucleotide variant | NM_001002029.4(C4B):c.3899G>A (p.Arg1300His) | not specified [RCV004429809] | uncertain significance | 6 | 32029788 | 32029788 | Human | | name |
| 405734712 | CV3295262 | single nucleotide variant | NM_001002029.4(C4B):c.3634G>A (p.Val1212Ile) | not specified [RCV004429807] | uncertain significance | 6 | 32029296 | 32029296 | Human | | name |
| 407496047 | CV3427916 | single nucleotide variant | NM_001002029.4(C4B):c.3632G>T (p.Gly1211Val) | not specified [RCV004605996] | uncertain significance | 6 | 32029294 | 32029294 | Human | | name |
| 407496053 | CV3427918 | single nucleotide variant | NM_001002029.4(C4B):c.3238G>A (p.Ala1080Thr) | not specified [RCV004605998] | uncertain significance | 6 | 32028700 | 32028700 | Human | | name |
| 407500874 | CV3427919 | single nucleotide variant | NM_001002029.4(C4B):c.3383T>C (p.Met1128Thr) | not specified [RCV004607238] | uncertain significance | 6 | 32028845 | 32028845 | Human | | name |
| 407496056 | CV3427921 | single nucleotide variant | NM_001002029.4(C4B):c.4004G>C (p.Gly1335Ala) | not specified [RCV004605999] | uncertain significance | 6 | 32029975 | 32029975 | Human | | name |
| 597623009 | CV3552249 | single nucleotide variant | NM_001002029.4(C4B):c.3214C>T (p.Arg1072Trp) | Complement component 4b deficiency [RCV004821107] | uncertain significance | 6 | 32028516 | 32028516 | Human | 2 | name , alternate_id |
| 597793609 | CV3640534 | single nucleotide variant | NM_001002029.4(C4B):c.3971A>G (p.Glu1324Gly) | not specified [RCV004903043] | uncertain significance | 6 | 32029942 | 32029942 | Human | | name |
| 597750633 | CV3640535 | single nucleotide variant | NM_001002029.4(C4B):c.3628C>T (p.Arg1210Trp) | not specified [RCV004892541] | uncertain significance | 6 | 32029290 | 32029290 | Human | | name |
| 597793612 | CV3640536 | single nucleotide variant | NM_001002029.4(C4B):c.3464T>C (p.Val1155Ala) | not specified [RCV004903044] | uncertain significance | 6 | 32029021 | 32029021 | Human | | name |
| 12896333 | CV389728 | single nucleotide variant | NM_001002029.4(C4B):c.3527G>A (p.Ser1176Asn) | not specified [RCV000455206] | benign | 6 | 32029189 | 32029189 | Human | | name |
| 598188593 | CV3946254 | single nucleotide variant | NM_001002029.4(C4B):c.3541G>A (p.Glu1181Lys) | not specified [RCV005312210] | uncertain significance | 6 | 32029203 | 32029203 | Human | | name |
| 598188606 | CV3946256 | single nucleotide variant | NM_001002029.4(C4B):c.3229T>G (p.Trp1077Gly) | not specified [RCV005312212] | uncertain significance | 6 | 32028531 | 32028531 | Human | | name |
| 598188614 | CV3946257 | single nucleotide variant | NM_001002029.4(C4B):c.4007G>A (p.Arg1336Gln) | not specified [RCV005312213] | uncertain significance | 6 | 32029978 | 32029978 | Human | | name |
| 598188622 | CV3946258 | single nucleotide variant | NM_001002029.4(C4B):c.3742C>G (p.Arg1248Gly) | not specified [RCV005312214] | uncertain significance | 6 | 32029631 | 32029631 | Human | | name |
| 42722781 | CV985233 | duplication | NM_001002029.4(C4B):c.3694_3695dup (p.Val1233fs) | not provided [RCV003431775] | pathogenic|benign | 6 | 32029581 | 32029582 | Human | | name |
| 150451068 | CV1261030 | single nucleotide variant | NM_000715.4(C4BPA):c.889+19A>G | not provided [RCV001680699] | benign | 1 | 207126914 | 207126914 | Human | | name |
| 150439903 | CV1266841 | single nucleotide variant | NM_000715.4(C4BPA):c.515-36G>C | not provided [RCV001690277] | benign | 1 | 207124139 | 207124139 | Human | | name |
| 150444019 | CV1277935 | single nucleotide variant | NM_000715.4(C4BPA):c.428+37T>C | not provided [RCV001707078] | benign | 1 | 207115552 | 207115552 | Human | | name |
| 40903332 | CV975890 | deletion | NM_001002029.3:c.(?_3231)_(3387_?)del | Complement component 4b deficiency [RCV001269335] | pathogenic | | | | Human | 2 | alternate_id |
| 150501151 | CV1223639 | single nucleotide variant | NM_000715.4(C4BPA):c.1274-63C>T | not provided [RCV001620760] | benign | 1 | 207141043 | 207141043 | Human | | name |
| 150500860 | CV1238265 | deletion | NM_000715.4(C4BPA):c.328+226del | not provided [RCV001656695] | benign | 1 | 207114486 | 207114486 | Human | | name |
| 150499435 | CV1254358 | single nucleotide variant | NM_000715.4(C4BPA):c.143-258C>T | not provided [RCV001676532] | benign | 1 | 207113842 | 207113842 | Human | | name |
| 150468554 | CV1267951 | single nucleotide variant | NM_000715.4(C4BPA):c.142+245T>C | not provided [RCV001694814] | benign | 1 | 207113412 | 207113412 | Human | | name |
| 150459250 | CV1269773 | single nucleotide variant | NM_000715.4(C4BPA):c.1274-95A>C | not provided [RCV001693313] | benign | 1 | 207141011 | 207141011 | Human | | name |
| 150473566 | CV1272192 | single nucleotide variant | NM_000715.4(C4BPA):c.889+141T>A | not provided [RCV001695730] | benign | 1 | 207127036 | 207127036 | Human | | name |
| 150477086 | CV1262452 | single nucleotide variant | NM_001017365.3(C4BPB):c.58+46T>G | not provided [RCV001685265] | benign | 1 | 207089635 | 207089635 | Human | | name |
| 150472302 | CV1270233 | single nucleotide variant | NM_000715.4(C4BPA):c.1621-101G>C | not provided [RCV001695521] | benign | 1 | 207144443 | 207144443 | Human | | name |
| 401936747 | CV2816015 | single nucleotide variant | NM_001017365.3(C4BPB):c.409+8C>A | not provided [RCV003414741] | likely benign | 1 | 207091828 | 207091828 | Human | | name |
| 12896010 | CV389356 | single nucleotide variant | NM_001017365.3(C4BPB):c.410-9T>C | not provided [RCV001692098]|not specified [RCV000454757] | benign | 1 | 207096513 | 207096513 | Human | 2 | name |
| 12896010 | CV389356 | single nucleotide variant | NM_001017365.3(C4BPB):c.410-9T>C | not provided [RCV001692098]|not specified [RCV000454757] | benign | 1 | 207096513 | 207096514 | Human | 2 | name |
| 12896464 | CV389372 | single nucleotide variant | NM_001017365.3(C4BPB):c.232+3A>G | not provided [RCV001537324]|not specified [RCV000455378] | benign | 1 | 207090484 | 207090484 | Human | | name |
| 150451282 | CV1276574 | single nucleotide variant | NM_001017365.3(C4BPB):c.59-114C>T | not provided [RCV001708363] | benign | 1 | 207090194 | 207090194 | Human | | name |
| 12896707 | CV389355 | single nucleotide variant | NM_001017365.3(C4BPB):c.410-12C>T | not provided [RCV004713979]|not specified [RCV000455710] | benign | 1 | 207096510 | 207096510 | Human | | name |
| 150330886 | CV1168807 | single nucleotide variant | NM_001017365.3(C4BPB):c.618+253T>G | not provided [RCV001536194] | benign | 1 | 207098517 | 207098517 | Human | | name |
| 150468921 | CV1249009 | single nucleotide variant | NM_001017365.3(C4BPB):c.409+265G>A | not provided [RCV001670770] | benign | 1 | 207092085 | 207092085 | Human | | name |
| 405268954 | CV3199154 | duplication | NM_001017365.3(C4BPB):c.504-21_504-3dup | C4BPB-related disorder [RCV003912256] | likely benign | 1 | 207098127 | 207098128 | Human | | name , trait , alternate_id |
| 401927319 | CV2796878 | single nucleotide variant | NM_000715.4(C4BPA):c.640T>A (p.Ser214Thr) | C4BPA-related disorder [RCV003406149] | uncertain significance | 1 | 207124300 | 207124300 | Human | | name , trait , alternate_id |
| 405259309 | CV3194719 | single nucleotide variant | NM_000715.4(C4BPA):c.1066C>T (p.Pro356Ser) | C4BPA-related disorder [RCV003894111] | uncertain significance | 1 | 207131722 | 207131722 | Human | | name , trait , alternate_id |
| 405275193 | CV3204688 | single nucleotide variant | NM_000715.4(C4BPA):c.1291A>G (p.Lys431Glu) | C4BPA-related disorder [RCV003952084] | uncertain significance | 1 | 207141123 | 207141123 | Human | | name , trait , alternate_id |
| 405286472 | CV3205364 | single nucleotide variant | NM_001017365.3(C4BPB):c.520G>A (p.Val174Met) | C4BPB-related disorder [RCV003959551] | likely benign | 1 | 207098166 | 207098166 | Human | | name , trait , alternate_id |
| 405265839 | CV3220876 | single nucleotide variant | NM_000715.4(C4BPA):c.1154A>G (p.Asn385Ser) | C4BPA-related disorder [RCV003969043] | uncertain significance | 1 | 207134473 | 207134473 | Human | | name , trait , alternate_id |
| 408385160 | CV3505636 | single nucleotide variant | NM_000715.4(C4BPA):c.182C>T (p.Pro61Leu) | C4BPA-related disorder [RCV004732381] | uncertain significance | 1 | 207114139 | 207114139 | Human | | name , trait , alternate_id |
| 408383982 | CV3506038 | duplication | NM_000715.4(C4BPA):c.372dup (p.Glu125fs) | C4BPA-related disorder [RCV004731377] | uncertain significance | 1 | 207115458 | 207115459 | Human | | name , trait , alternate_id |
| 15166952 | CV718576 | single nucleotide variant | NM_000715.4(C4BPA):c.39A>G (p.Arg13=) | not provided [RCV000882748] | benign | 1 | 207113064 | 207113064 | Human | | name |
| 150436793 | CV1220605 | single nucleotide variant | NM_000715.4(C4BPA):c.11C>A (p.Pro4Gln) | not provided [RCV001609589] | benign | 1 | 207113036 | 207113036 | Human | | name |
| 156127702 | CV2351248 | single nucleotide variant | NM_000715.4(C4BPA):c.20C>T (p.Pro7Leu) | not specified [RCV004214094] | uncertain significance | 1 | 207113045 | 207113045 | Human | | name |
| 15112679 | CV707031 | single nucleotide variant | NM_000715.4(C4BPA):c.10C>G (p.Pro4Ala) | not provided [RCV000961346] | benign | 1 | 207113035 | 207113035 | Human | | name |
| 155972229 | CV2228104 | single nucleotide variant | NM_000715.4(C4BPA):c.70A>G (p.Arg24Gly) | not specified [RCV004096330] | uncertain significance | 1 | 207113095 | 207113095 | Human | | name |
| 155966530 | CV2284376 | single nucleotide variant | NM_000715.4(C4BPA):c.29C>T (p.Ala10Val) | not specified [RCV004146717] | uncertain significance | 1 | 207113054 | 207113054 | Human | | name |
| 156171968 | CV2326747 | single nucleotide variant | NM_000715.4(C4BPA):c.58T>C (p.Trp20Arg) | not specified [RCV004176591] | uncertain significance | 1 | 207113083 | 207113083 | Human | | name |
| 156383011 | CV2363118 | single nucleotide variant | NM_000715.4(C4BPA):c.28G>A (p.Ala10Thr) | not specified [RCV004211242] | likely benign | 1 | 207113053 | 207113053 | Human | | name |
| 156193205 | CV2397957 | single nucleotide variant | NM_000715.4(C4BPA):c.86C>T (p.Ser29Phe) | not specified [RCV004241565] | uncertain significance | 1 | 207113111 | 207113111 | Human | | name |
| 12896736 | CV389358 | single nucleotide variant | NM_000715.4(C4BPA):c.675T>C (p.Gly225=) | not provided [RCV001692097]|not specified [RCV000455756] | benign | 1 | 207124335 | 207124335 | Human | | name |
| 598223142 | CV3893968 | single nucleotide variant | NM_000715.4(C4BPA):c.825C>G (p.Gly275=) | not provided [RCV005257211] | likely benign | 1 | 207126831 | 207126831 | Human | | name |
| 15157995 | CV707032 | single nucleotide variant | NM_000715.4(C4BPA):c.97C>G (p.Leu33Val) | not provided [RCV000969420] | benign | 1 | 207113122 | 207113122 | Human | | name |
| 150514978 | CV1228692 | single nucleotide variant | NM_000715.4(C4BPA):c.1068A>C (p.Pro356=) | not provided [RCV001638680] | benign | 1 | 207131724 | 207131724 | Human | | name |
| 156336391 | CV2270716 | single nucleotide variant | NM_000715.4(C4BPA):c.227C>T (p.Thr76Ile) | not specified [RCV004131783] | uncertain significance | 1 | 207114184 | 207114184 | Human | | name |
| 405695841 | CV3226683 | single nucleotide variant | NM_000715.4(C4BPA):c.1629C>T (p.Pro543=) | not provided [RCV003993076] | likely benign | 1 | 207144552 | 207144552 | Human | | name |
| 405734754 | CV3291378 | single nucleotide variant | NM_000715.4(C4BPA):c.152G>A (p.Gly51Asp) | not specified [RCV004429812] | likely benign | 1 | 207114109 | 207114109 | Human | | name |
| 407496063 | CV3427923 | single nucleotide variant | NM_000715.4(C4BPA):c.152G>T (p.Gly51Val) | not specified [RCV004606001] | uncertain significance | 1 | 207114109 | 207114109 | Human | | name |
| 598188629 | CV3946259 | single nucleotide variant | NM_000715.4(C4BPA):c.137T>G (p.Val46Gly) | not specified [RCV005312215] | uncertain significance | 1 | 207113162 | 207113162 | Human | | name |
| 15195122 | CV696423 | single nucleotide variant | NM_000715.4(C4BPA):c.179C>T (p.Ala60Val) | not provided [RCV000955835] | benign | 1 | 207114136 | 207114136 | Human | | name |
| 15116353 | CV746025 | single nucleotide variant | NM_001017365.3(C4BPB):c.66C>T (p.His22=) | not provided [RCV000917612] | benign | 1 | 207090315 | 207090315 | Human | | name |
| 150336488 | CV1164855 | single nucleotide variant | NM_000715.4(C4BPA):c.719G>A (p.Arg240His) | not provided [RCV001530867] | benign | 1 | 207126725 | 207126725 | Human | | name |
| 156234135 | CV2223935 | single nucleotide variant | NM_000715.4(C4BPA):c.980T>C (p.Val327Ala) | not specified [RCV004094198] | uncertain significance | 1 | 207131636 | 207131636 | Human | | name |
| 156339704 | CV2229325 | single nucleotide variant | NM_000715.4(C4BPA):c.617G>A (p.Arg206His) | not specified [RCV004101117] | uncertain significance | 1 | 207124277 | 207124277 | Human | | name |
| 155983353 | CV2233294 | single nucleotide variant | NM_000715.4(C4BPA):c.350G>A (p.Gly117Glu) | not specified [RCV004105676] | uncertain significance | 1 | 207115437 | 207115437 | Human | | name |
| 155915207 | CV2264967 | single nucleotide variant | NM_000715.4(C4BPA):c.586G>A (p.Gly196Ser) | not specified [RCV004134697] | uncertain significance | 1 | 207124246 | 207124246 | Human | | name |
| 155959525 | CV2390547 | single nucleotide variant | NM_000715.4(C4BPA):c.677T>C (p.Val226Ala) | not specified [RCV004239080] | uncertain significance | 1 | 207124337 | 207124337 | Human | | name |
| 405735244 | CV3291380 | single nucleotide variant | NM_000715.4(C4BPA):c.605G>T (p.Ser202Ile) | not specified [RCV004429814] | uncertain significance | 1 | 207124265 | 207124265 | Human | | name |
| 405735237 | CV3291381 | single nucleotide variant | NM_000715.4(C4BPA):c.733T>G (p.Ser245Ala) | not specified [RCV004429815] | uncertain significance | 1 | 207126739 | 207126739 | Human | | name |
| 405735227 | CV3291382 | single nucleotide variant | NM_000715.4(C4BPA):c.787A>G (p.Ile263Val) | not specified [RCV004429816] | uncertain significance | 1 | 207126793 | 207126793 | Human | | name |
| 405735218 | CV3291383 | single nucleotide variant | NM_000715.4(C4BPA):c.946C>T (p.Pro316Ser) | not specified [RCV004429817] | uncertain significance | 1 | 207131602 | 207131602 | Human | | name |
| 405735210 | CV3291384 | single nucleotide variant | NM_000715.4(C4BPA):c.957G>C (p.Glu319Asp) | not specified [RCV004429818] | uncertain significance | 1 | 207131613 | 207131613 | Human | | name |
| 12896039 | CV389345 | single nucleotide variant | NM_000715.4(C4BPA):c.899T>C (p.Ile300Thr) | not provided [RCV001683473]|not specified [RCV000454800] | benign | 1 | 207131555 | 207131555 | Human | 2 | name |
| 12896039 | CV389345 | single nucleotide variant | NM_000715.4(C4BPA):c.899T>C (p.Ile300Thr) | not provided [RCV001683473]|not specified [RCV000454800] | benign | 1 | 207131555 | 207131556 | Human | 2 | name |
| 598188645 | CV3946261 | single nucleotide variant | NM_000715.4(C4BPA):c.937T>C (p.Tyr313His) | not specified [RCV005312217] | uncertain significance | 1 | 207131593 | 207131593 | Human | | name |
| 598188657 | CV3946263 | single nucleotide variant | NM_000715.4(C4BPA):c.329A>T (p.Tyr110Phe) | not specified [RCV005312219] | uncertain significance | 1 | 207115416 | 207115416 | Human | | name |
| 15112673 | CV707030 | single nucleotide variant | NM_001017365.3(C4BPB):c.105C>T (p.Val35=) | not provided [RCV000961345] | benign | 1 | 207090354 | 207090354 | Human | | name |
| 15132749 | CV707033 | single nucleotide variant | NM_000715.4(C4BPA):c.671T>C (p.Ile224Thr) | not provided [RCV000964829] | benign | 1 | 207124331 | 207124331 | Human | | name |
| 156065495 | CV2196940 | single nucleotide variant | NM_000715.4(C4BPA):c.1504G>A (p.Val502Ile) | not specified [RCV004071399] | uncertain significance | 1 | 207143877 | 207143877 | Human | | name |
| 156035192 | CV2208076 | single nucleotide variant | NM_000715.4(C4BPA):c.1762G>A (p.Ala588Thr) | not specified [RCV004086765] | uncertain significance | 1 | 207144685 | 207144685 | Human | | name |
| 156093265 | CV2300207 | single nucleotide variant | NM_000715.4(C4BPA):c.1012C>A (p.Pro338Thr) | not specified [RCV004151394] | uncertain significance | 1 | 207131668 | 207131668 | Human | | name |
| 156198269 | CV2312907 | single nucleotide variant | NM_000715.4(C4BPA):c.1144C>A (p.Arg382Ser) | not specified [RCV004159421] | uncertain significance | 1 | 207134463 | 207134463 | Human | | name |
| 156069918 | CV2341152 | single nucleotide variant | NM_001017365.3(C4BPB):c.29T>C (p.Met10Thr) | not specified [RCV004181627] | uncertain significance | 1 | 207089560 | 207089560 | Human | | name |
| 156240061 | CV2350317 | single nucleotide variant | NM_000715.4(C4BPA):c.1781A>G (p.Asp594Gly) | not specified [RCV004202267] | uncertain significance | 1 | 207144704 | 207144704 | Human | | name |
| 156137970 | CV2354512 | single nucleotide variant | NM_000715.4(C4BPA):c.1375A>C (p.Ile459Leu) | not specified [RCV004202497] | uncertain significance | 1 | 207141207 | 207141207 | Human | | name |
| 156392303 | CV2378498 | single nucleotide variant | NM_000715.4(C4BPA):c.1763C>T (p.Ala588Val) | not specified [RCV004228552] | uncertain significance | 1 | 207144686 | 207144686 | Human | | name |
| 329402713 | CV2451270 | single nucleotide variant | NM_000715.4(C4BPA):c.1777T>G (p.Leu593Val) | not specified [RCV004271970] | uncertain significance | 1 | 207144700 | 207144700 | Human | | name |
| 401747783 | CV2689009 | single nucleotide variant | NM_000715.4(C4BPA):c.1733T>C (p.Ile578Thr) | not specified [RCV004305789] | uncertain significance | 1 | 207144656 | 207144656 | Human | | name |
| 401723734 | CV2725012 | single nucleotide variant | NM_001017365.3(C4BPB):c.35C>T (p.Ala12Val) | not specified [RCV004319770] | likely benign | 1 | 207089566 | 207089566 | Human | | name |
| 401885198 | CV2770998 | single nucleotide variant | NM_001017365.3(C4BPB):c.56A>G (p.Asp19Gly) | not specified [RCV004344015] | uncertain significance | 1 | 207089587 | 207089587 | Human | | name |
| 405734739 | CV3291376 | single nucleotide variant | NM_000715.4(C4BPA):c.1143T>G (p.Ser381Arg) | not specified [RCV004429810] | uncertain significance | 1 | 207134462 | 207134462 | Human | | name |
| 405734745 | CV3291377 | single nucleotide variant | NM_000715.4(C4BPA):c.1468G>A (p.Val490Met) | not specified [RCV004429811] | uncertain significance | 1 | 207143841 | 207143841 | Human | | name |
| 405734767 | CV3291379 | single nucleotide variant | NM_000715.4(C4BPA):c.1571C>A (p.Thr524Asn) | not specified [RCV004429813] | uncertain significance | 1 | 207143944 | 207143944 | Human | | name |
| 407496059 | CV3427922 | single nucleotide variant | NM_000715.4(C4BPA):c.1144C>T (p.Arg382Cys) | not specified [RCV004606000] | uncertain significance | 1 | 207134463 | 207134463 | Human | | name |
| 407500884 | CV3427924 | single nucleotide variant | NM_001017365.3(C4BPB):c.70C>G (p.Pro24Ala) | not specified [RCV004607240] | uncertain significance | 1 | 207090319 | 207090319 | Human | | name |
| 597793615 | CV3640537 | single nucleotide variant | NM_000715.4(C4BPA):c.1565G>A (p.Ser522Asn) | not specified [RCV004903045] | likely benign | 1 | 207143938 | 207143938 | Human | | name |
| 597793617 | CV3640538 | single nucleotide variant | NM_000715.4(C4BPA):c.1714T>C (p.Tyr572His) | not specified [RCV004903046] | uncertain significance | 1 | 207144637 | 207144637 | Human | | name |
| 12896475 | CV389341 | single nucleotide variant | NM_001017365.3(C4BPB):c.462C>T (p.Asn154=) | not provided [RCV001672751]|not specified [RCV000455392] | benign | 1 | 207096574 | 207096574 | Human | 2 | name |
| 12896475 | CV389341 | single nucleotide variant | NM_001017365.3(C4BPB):c.462C>T (p.Asn154=) | not provided [RCV001672751]|not specified [RCV000455392] | benign | 1 | 207096574 | 207096575 | Human | 2 | name |
| 598188636 | CV3946260 | single nucleotide variant | NM_000715.4(C4BPA):c.1687G>A (p.Glu563Lys) | not specified [RCV005312216] | uncertain significance | 1 | 207144610 | 207144610 | Human | | name |
| 598188650 | CV3946262 | single nucleotide variant | NM_000715.4(C4BPA):c.1018A>G (p.Thr340Ala) | not specified [RCV005312218] | uncertain significance | 1 | 207131674 | 207131674 | Human | | name |
| 15195129 | CV696424 | single nucleotide variant | NM_000715.4(C4BPA):c.1454G>A (p.Arg485Gln) | not provided [RCV000955836] | benign | 1 | 207143827 | 207143827 | Human | | name |
| 15158865 | CV746026 | single nucleotide variant | NM_001017365.3(C4BPB):c.582C>T (p.Ile194=) | not provided [RCV000925164] | likely benign | 1 | 207098228 | 207098228 | Human | | name |
| 401768651 | CV2685542 | single nucleotide variant | NM_001017365.3(C4BPB):c.142G>C (p.Val48Leu) | not specified [RCV004294558] | likely benign | 1 | 207090391 | 207090391 | Human | | name |
| 405735204 | CV3291385 | single nucleotide variant | NM_001017365.3(C4BPB):c.229C>T (p.Arg77Cys) | not specified [RCV004429819] | uncertain significance | 1 | 207090478 | 207090478 | Human | | name |
| 597793623 | CV3640541 | single nucleotide variant | NM_001017365.3(C4BPB):c.153G>T (p.Lys51Asn) | not specified [RCV004903048] | uncertain significance | 1 | 207090402 | 207090402 | Human | | name |
| 597750624 | CV3640542 | single nucleotide variant | NM_001017365.3(C4BPB):c.289G>A (p.Val97Met) | not specified [RCV004892543] | uncertain significance | 1 | 207091700 | 207091700 | Human | | name |
| 598211699 | CV3946264 | single nucleotide variant | NM_001017365.3(C4BPB):c.153G>C (p.Lys51Asn) | not specified [RCV005316056] | uncertain significance | 1 | 207090402 | 207090402 | Human | | name |
| 156194430 | CV2214298 | single nucleotide variant | NM_001017365.3(C4BPB):c.659A>C (p.Glu220Ala) | not specified [RCV004086288] | uncertain significance | 1 | 207099829 | 207099829 | Human | | name |
| 156069319 | CV2237121 | single nucleotide variant | NM_001017365.3(C4BPB):c.666T>G (p.Phe222Leu) | not specified [RCV004114874] | uncertain significance | 1 | 207099836 | 207099836 | Human | | name |
| 329387527 | CV2436529 | single nucleotide variant | NM_001017365.3(C4BPB):c.596A>C (p.Lys199Thr) | not specified [RCV004251899] | uncertain significance | 1 | 207098242 | 207098242 | Human | | name |
| 401768607 | CV2675481 | single nucleotide variant | NM_001017365.3(C4BPB):c.352C>T (p.Arg118Trp) | not specified [RCV004292273] | likely benign | 1 | 207091763 | 207091763 | Human | | name |
| 401855252 | CV2757214 | single nucleotide variant | NM_001017365.3(C4BPB):c.691A>G (p.Met231Val) | not specified [RCV004338813] | uncertain significance | 1 | 207099861 | 207099861 | Human | | name |
| 405735197 | CV3291386 | single nucleotide variant | NM_001017365.3(C4BPB):c.311C>T (p.Thr104Met) | not specified [RCV004429820] | uncertain significance | 1 | 207091722 | 207091722 | Human | | name |
| 405735188 | CV3291387 | single nucleotide variant | NM_001017365.3(C4BPB):c.585G>C (p.Gln195His) | not specified [RCV004429821] | uncertain significance | 1 | 207098231 | 207098231 | Human | | name |
| 597793625 | CV3640543 | single nucleotide variant | NM_001017365.3(C4BPB):c.461A>G (p.Asn154Ser) | not specified [RCV004903049] | uncertain significance | 1 | 207096573 | 207096573 | Human | | name |
| 597750618 | CV3640544 | single nucleotide variant | NM_001017365.3(C4BPB):c.688G>A (p.Gly230Ser) | not specified [RCV004892544] | uncertain significance | 1 | 207099858 | 207099858 | Human | | name |
| 597793629 | CV3640545 | single nucleotide variant | NM_001017365.3(C4BPB):c.346A>G (p.Ser116Gly) | not specified [RCV004903050] | uncertain significance | 1 | 207091757 | 207091757 | Human | | name |
| 597750613 | CV3640546 | single nucleotide variant | NM_001017365.3(C4BPB):c.310A>C (p.Thr104Pro) | not specified [RCV004892545] | uncertain significance | 1 | 207091721 | 207091721 | Human | | name |
| 598211704 | CV3946265 | single nucleotide variant | NM_001017365.3(C4BPB):c.541G>A (p.Asp181Asn) | not specified [RCV005316057] | uncertain significance | 1 | 207098187 | 207098187 | Human | | name |