ClinVar Miner

List of variants studied for Combined malonic and methylmalonic acidemia by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 762
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HGVS dbSNP gnomAD frequency
NM_001243279.3(ACSF3):c.51G>C (p.Ala17=) rs7201122 0.91794
NM_001243279.3(ACSF3):c.5T>C (p.Leu2Pro) rs7188200 0.72412
NM_001243279.3(ACSF3):c.369C>A (p.Val123=) rs6500529 0.71928
NM_001243279.3(ACSF3):c.306C>T (p.Cys102=) rs6500526 0.71888
NM_001243279.3(ACSF3):c.354T>C (p.Ser118=) rs6500528 0.71317
NM_001243279.3(ACSF3):c.342G>C (p.Ala114=) rs6500527 0.71311
NM_001243279.3(ACSF3):c.315T>C (p.Asp105=) rs7193255 0.71228
NM_001243279.3(ACSF3):c.1114G>A (p.Val372Met) rs3743979 0.71214
NM_001243279.3(ACSF3):c.1347G>A (p.Leu449=) rs12447947 0.24857
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu) rs143793502 0.09373
NM_001243279.3(ACSF3):c.49G>C (p.Ala17Pro) rs11547019 0.03850
NM_001243279.3(ACSF3):c.667-12C>T rs72817437 0.03540
NM_001243279.3(ACSF3):c.1367-13C>G rs140859425 0.02493
NM_001243279.3(ACSF3):c.996A>T (p.Ser332=) rs75591977 0.02464
NM_001243279.3(ACSF3):c.297C>T (p.Ser99=) rs59213357 0.01112
NM_001243279.3(ACSF3):c.667-13T>C rs139367843 0.00923
NM_001243279.3(ACSF3):c.1367-6C>T rs113343336 0.00837
NM_001243279.3(ACSF3):c.1126+4C>T rs73254029 0.00823
NM_001243279.3(ACSF3):c.1134G>A (p.Val378=) rs141088268 0.00475
NM_001243279.3(ACSF3):c.600C>G (p.Ile200Met) rs147597284 0.00359
NM_001243279.3(ACSF3):c.1131C>T (p.Ser377=) rs138395741 0.00325
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00273
NM_001243279.3(ACSF3):c.852G>A (p.Thr284=) rs183159791 0.00253
NM_001243279.3(ACSF3):c.1467G>C (p.Val489=) rs115776284 0.00242
NM_001243279.3(ACSF3):c.856C>T (p.Arg286Trp) rs148146761 0.00186
NM_001243279.3(ACSF3):c.822+18C>T rs370191947 0.00132
NM_001243279.3(ACSF3):c.411C>T (p.Val137=) rs148969539 0.00083
NM_001243279.3(ACSF3):c.1614-12T>C rs373509783 0.00072
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00070
NM_001243279.3(ACSF3):c.823-4G>C rs558325262 0.00067
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=) rs140941507 0.00060
NM_001243279.3(ACSF3):c.1614-10G>C rs370941606 0.00056
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val) rs370382601 0.00053
NM_001243279.3(ACSF3):c.978-7C>T rs190927208 0.00051
NM_001243279.3(ACSF3):c.1614-6C>T rs368789945 0.00046
NM_001243279.3(ACSF3):c.855G>A (p.Pro285=) rs780294227 0.00043
NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr) rs375374971 0.00031
NM_001243279.3(ACSF3):c.1629G>A (p.Pro543=) rs146779456 0.00030
NM_001243279.3(ACSF3):c.756C>T (p.Asn252=) rs147718091 0.00029
NM_001243279.3(ACSF3):c.327C>T (p.Val109=) rs141517318 0.00027
NM_001243279.3(ACSF3):c.1456G>A (p.Ala486Thr) rs192339782 0.00025
NM_001243279.3(ACSF3):c.978-6G>A rs377217672 0.00025
NM_001243279.3(ACSF3):c.1502-4G>A rs111414659 0.00023
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu) rs140986055 0.00022
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=) rs539500659 0.00021
NM_001243279.3(ACSF3):c.721G>A (p.Val241Met) rs145141190 0.00020
NM_001243279.3(ACSF3):c.1127-5T>C rs200245960 0.00019
NM_001243279.3(ACSF3):c.1562C>G (p.Thr521Ser) rs201022212 0.00019
NM_001243279.3(ACSF3):c.497C>T (p.Pro166Leu) rs781425127 0.00019
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=) rs147915828 0.00018
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796 0.00017
NM_001243279.3(ACSF3):c.933G>A (p.Pro311=) rs150686471 0.00017
NM_001243279.3(ACSF3):c.358G>A (p.Gly120Ser) rs200703917 0.00016
NM_001243279.3(ACSF3):c.387T>C (p.His129=) rs150050697 0.00016
NM_001243279.3(ACSF3):c.1197C>T (p.Cys399=) rs768148002 0.00015
NM_001243279.3(ACSF3):c.285G>A (p.Glu95=) rs187962814 0.00015
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp) rs202182978 0.00015
NM_001243279.3(ACSF3):c.851C>T (p.Thr284Met) rs373794208 0.00015
NM_001243279.3(ACSF3):c.120G>A (p.Ser40=) rs34972688 0.00014
NM_001243279.3(ACSF3):c.1334G>A (p.Ser445Asn) rs142092069 0.00014
NM_001243279.3(ACSF3):c.1394A>G (p.Gln465Arg) rs200971130 0.00014
NM_001243279.3(ACSF3):c.1613+8T>G rs1358602745 0.00014
NM_001243279.3(ACSF3):c.80G>A (p.Arg27Lys) rs756279730 0.00014
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=) rs200146632 0.00013
NM_001243279.3(ACSF3):c.1502-18C>G rs759372180 0.00012
NM_001243279.3(ACSF3):c.1643C>T (p.Ser548Leu) rs139520739 0.00012
NM_001243279.3(ACSF3):c.473C>T (p.Pro158Leu) rs763823186 0.00012
NM_001243279.3(ACSF3):c.545C>T (p.Pro182Leu) rs145470870 0.00012
NM_001243279.3(ACSF3):c.667-14C>T rs375555298 0.00012
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=) rs150374081 0.00012
NM_001243279.3(ACSF3):c.72G>A (p.Ala24=) rs752720474 0.00012
NM_001243279.3(ACSF3):c.1213G>A (p.Ala405Thr) rs189568082 0.00011
NM_001243279.3(ACSF3):c.561C>T (p.Val187=) rs113731967 0.00011
NM_001243279.3(ACSF3):c.625C>G (p.Pro209Ala) rs201953109 0.00011
NM_001243279.3(ACSF3):c.796A>G (p.Met266Val) rs141607995 0.00011
NM_001243279.3(ACSF3):c.145C>T (p.Arg49Cys) rs141518662 0.00010
NM_001243279.3(ACSF3):c.312C>T (p.Asn104=) rs749994320 0.00010
NM_001243279.3(ACSF3):c.42C>T (p.Cys14=) rs756300619 0.00010
NM_001243279.3(ACSF3):c.527C>A (p.Thr176Asn) rs368696141 0.00010
NM_001243279.3(ACSF3):c.623G>A (p.Arg208Lys) rs749751646 0.00010
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434 0.00009
NM_001243279.3(ACSF3):c.122A>T (p.Asp41Val) rs545886514 0.00009
NM_001243279.3(ACSF3):c.258C>T (p.Cys86=) rs560101290 0.00008
NM_001243279.3(ACSF3):c.130G>A (p.Ala44Thr) rs759448696 0.00007
NM_001243279.3(ACSF3):c.1502-13C>T rs755143692 0.00007
NM_001243279.3(ACSF3):c.1613+18G>A rs202213476 0.00007
NM_001243279.3(ACSF3):c.392C>T (p.Ala131Val) rs148768970 0.00007
NM_001243279.3(ACSF3):c.1113C>T (p.Ala371=) rs201792144 0.00006
NM_001243279.3(ACSF3):c.156C>T (p.Ala52=) rs746564011 0.00006
NM_001243279.3(ACSF3):c.667-2A>G rs373322510 0.00006
NM_001243279.3(ACSF3):c.720C>T (p.His240=) rs778493922 0.00006
NM_001243279.3(ACSF3):c.822+12dup rs753199859 0.00006
NM_001243279.3(ACSF3):c.943G>A (p.Asp315Asn) rs774006607 0.00006
NM_001243279.3(ACSF3):c.1050C>G (p.Thr350=) rs899144976 0.00005
NM_001243279.3(ACSF3):c.1233G>A (p.Gly411=) rs777928520 0.00005
NM_001243279.3(ACSF3):c.1500A>G (p.Thr500=) rs1183363077 0.00005
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp) rs761852278 0.00005
NM_001243279.3(ACSF3):c.194G>A (p.Arg65His) rs745633046 0.00005
NM_001243279.3(ACSF3):c.200C>T (p.Thr67Met) rs771946908 0.00005
NM_001243279.3(ACSF3):c.246del (p.Cys83fs) rs772073893 0.00005
NM_001243279.3(ACSF3):c.390C>T (p.Pro130=) rs368192538 0.00005
NM_001243279.3(ACSF3):c.666+16C>T rs367932532 0.00005
NM_001243279.3(ACSF3):c.666+9C>T rs767663198 0.00005
NM_001243279.3(ACSF3):c.708C>T (p.Asp236=) rs550622194 0.00005
NM_001243279.3(ACSF3):c.823-5C>T rs192714121 0.00005
NM_001243279.3(ACSF3):c.828G>T (p.Trp276Cys) rs570233664 0.00005
NM_001243279.3(ACSF3):c.936C>T (p.His312=) rs202119269 0.00005
NM_001243279.3(ACSF3):c.116G>A (p.Arg39His) rs144711526 0.00004
NM_001243279.3(ACSF3):c.11A>G (p.His4Arg) rs1255089115 0.00004
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=) rs766713747 0.00004
NM_001243279.3(ACSF3):c.1375G>A (p.Val459Met) rs200029061 0.00004
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370 0.00004
NM_001243279.3(ACSF3):c.1613+17C>T rs370053000 0.00004
NM_001243279.3(ACSF3):c.506C>T (p.Pro169Leu) rs377732201 0.00004
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=) rs377354800 0.00004
NM_001243279.3(ACSF3):c.759G>A (p.Ala253=) rs765643653 0.00004
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter) rs746877433 0.00004
NM_001243279.3(ACSF3):c.978-4G>A rs370451473 0.00004
NM_001243279.3(ACSF3):c.1074C>G (p.Thr358=) rs374451559 0.00003
NM_001243279.3(ACSF3):c.1095C>T (p.Ser365=) rs148716626 0.00003
NM_001243279.3(ACSF3):c.1127-14C>A rs774756903 0.00003
NM_001243279.3(ACSF3):c.1127-9C>T rs536593488 0.00003
NM_001243279.3(ACSF3):c.1240-17T>C rs538654192 0.00003
NM_001243279.3(ACSF3):c.1501+11G>A rs770771724 0.00003
NM_001243279.3(ACSF3):c.1502-5C>T rs577763495 0.00003
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=) rs375187216 0.00003
NM_001243279.3(ACSF3):c.1535G>A (p.Trp512Ter) rs1450563045 0.00003
NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp) rs563580010 0.00003
NM_001243279.3(ACSF3):c.1605G>A (p.Glu535=) rs139813770 0.00003
NM_001243279.3(ACSF3):c.1614-19G>A rs1217575327 0.00003
NM_001243279.3(ACSF3):c.16G>C (p.Val6Leu) rs776314400 0.00003
NM_001243279.3(ACSF3):c.171C>T (p.Ile57=) rs147044602 0.00003
NM_001243279.3(ACSF3):c.18G>A (p.Val6=) rs375071176 0.00003
NM_001243279.3(ACSF3):c.294C>G (p.Val98=) rs1439239345 0.00003
NM_001243279.3(ACSF3):c.29G>A (p.Arg10Gln) rs751551226 0.00003
NM_001243279.3(ACSF3):c.321C>T (p.Ser107=) rs901932797 0.00003
NM_001243279.3(ACSF3):c.357C>T (p.Gly119=) rs182147718 0.00003
NM_001243279.3(ACSF3):c.45C>G (p.Ala15=) rs771481057 0.00003
NM_001243279.3(ACSF3):c.474G>A (p.Pro158=) rs757199694 0.00003
NM_001243279.3(ACSF3):c.558G>A (p.Pro186=) rs756599875 0.00003
NM_001243279.3(ACSF3):c.58C>T (p.Arg20Trp) rs772907663 0.00003
NM_001243279.3(ACSF3):c.667-11G>A rs1342029414 0.00003
NM_001243279.3(ACSF3):c.66G>A (p.Ala22=) rs751461445 0.00003
NM_001243279.3(ACSF3):c.757G>A (p.Ala253Thr) rs534495046 0.00003
NM_001243279.3(ACSF3):c.810C>T (p.Phe270=) rs143501853 0.00003
NM_001243279.3(ACSF3):c.86G>C (p.Ser29Thr) rs754161182 0.00003
NM_001243279.3(ACSF3):c.953G>A (p.Arg318His) rs200352879 0.00003
NM_001243279.3(ACSF3):c.978-19C>T rs769697688 0.00003
NM_001243279.3(ACSF3):c.1127-18G>A rs372361420 0.00002
NM_001243279.3(ACSF3):c.1203C>T (p.Tyr401=) rs776003939 0.00002
NM_001243279.3(ACSF3):c.1239+13G>A rs776116035 0.00002
NM_001243279.3(ACSF3):c.1266G>A (p.Glu422=) rs150322170 0.00002
NM_001243279.3(ACSF3):c.1374C>T (p.Thr458=) rs761654873 0.00002
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter) rs201954387 0.00002
NM_001243279.3(ACSF3):c.1635G>A (p.Ala545=) rs1015935500 0.00002
NM_001243279.3(ACSF3):c.1644G>A (p.Ser548=) rs746019334 0.00002
NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=) rs747338200 0.00002
NM_001243279.3(ACSF3):c.1725C>T (p.Pro575=) rs373741441 0.00002
NM_001243279.3(ACSF3):c.238C>T (p.Gln80Ter) rs138156311 0.00002
NM_001243279.3(ACSF3):c.313G>A (p.Asp105Asn) rs145969050 0.00002
NM_001243279.3(ACSF3):c.366A>G (p.Ala122=) rs749371364 0.00002
NM_001243279.3(ACSF3):c.414C>G (p.Ile138Met) rs568882749 0.00002
NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter) rs142575695 0.00002
NM_001243279.3(ACSF3):c.44C>A (p.Ala15Asp) rs749661738 0.00002
NM_001243279.3(ACSF3):c.480C>T (p.Val160=) rs375671065 0.00002
NM_001243279.3(ACSF3):c.576G>A (p.Trp192Ter) rs771558691 0.00002
NM_001243279.3(ACSF3):c.645G>A (p.Thr215=) rs772996642 0.00002
NM_001243279.3(ACSF3):c.666+17G>A rs757696220 0.00002
NM_001243279.3(ACSF3):c.667-7C>T rs770578916 0.00002
NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter) rs145583876 0.00002
NM_001243279.3(ACSF3):c.743A>G (p.His248Arg) rs144818342 0.00002
NM_001243279.3(ACSF3):c.799A>G (p.Met267Val) rs538442044 0.00002
NM_001243279.3(ACSF3):c.912C>T (p.Tyr304=) rs753810945 0.00002
NM_001243279.3(ACSF3):c.978-1G>A rs756599931 0.00002
NM_001243279.3(ACSF3):c.1004T>A (p.Leu335Gln) rs1358680743 0.00001
NM_001243279.3(ACSF3):c.1011C>T (p.Leu337=) rs757799912 0.00001
NM_001243279.3(ACSF3):c.1028G>A (p.Trp343Ter) rs1131691498 0.00001
NM_001243279.3(ACSF3):c.1032G>A (p.Lys344=) rs747906365 0.00001
NM_001243279.3(ACSF3):c.105C>T (p.Ala35=) rs779450250 0.00001
NM_001243279.3(ACSF3):c.1087G>A (p.Ala363Thr) rs1184733927 0.00001
NM_001243279.3(ACSF3):c.1098G>A (p.Gly366=) rs967555706 0.00001
NM_001243279.3(ACSF3):c.1101C>T (p.Pro367=) rs765752531 0.00001
NM_001243279.3(ACSF3):c.1107C>A (p.Thr369=) rs750959933 0.00001
NM_001243279.3(ACSF3):c.1107C>T (p.Thr369=) rs750959933 0.00001
NM_001243279.3(ACSF3):c.110T>A (p.Val37Glu) rs549664473 0.00001
NM_001243279.3(ACSF3):c.1120C>T (p.Leu374=) rs745825913 0.00001
NM_001243279.3(ACSF3):c.1122G>A (p.Leu374=) rs1373279774 0.00001
NM_001243279.3(ACSF3):c.1127-7C>G rs761564953 0.00001
NM_001243279.3(ACSF3):c.1162C>T (p.Arg388Cys) rs769987195 0.00001
NM_001243279.3(ACSF3):c.1183C>T (p.Gln395Ter) rs1358658486 0.00001
NM_001243279.3(ACSF3):c.119C>T (p.Ser40Leu) rs747598756 0.00001
NM_001243279.3(ACSF3):c.1212C>T (p.His404=) rs750140114 0.00001
NM_001243279.3(ACSF3):c.1215A>G (p.Ala405=) rs766100388 0.00001
NM_001243279.3(ACSF3):c.1224C>T (p.Asp408=) rs1047268029 0.00001
NM_001243279.3(ACSF3):c.1239+20G>C rs1284590892 0.00001
NM_001243279.3(ACSF3):c.1239+9C>G rs376238513 0.00001
NM_001243279.3(ACSF3):c.1240-18G>A rs752037142 0.00001
NM_001243279.3(ACSF3):c.1240-20A>G rs750688940 0.00001
NM_001243279.3(ACSF3):c.1240-7T>G rs1909681300 0.00001
NM_001243279.3(ACSF3):c.1251G>T (p.Gly417=) rs3743984 0.00001
NM_001243279.3(ACSF3):c.12T>C (p.His4=) rs1210564027 0.00001
NM_001243279.3(ACSF3):c.1300C>T (p.Arg434Ter) rs766764090 0.00001
NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter) rs1243213118 0.00001
NM_001243279.3(ACSF3):c.1311G>A (p.Trp437Ter) rs1909702747 0.00001
NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter) rs776995095 0.00001
NM_001243279.3(ACSF3):c.1343C>G (p.Thr448Ser) rs554194567 0.00001
NM_001243279.3(ACSF3):c.1359T>C (p.Phe453=) rs1321315792 0.00001
NM_001243279.3(ACSF3):c.1366+11G>C rs762991611 0.00001
NM_001243279.3(ACSF3):c.1366+17T>C rs766676473 0.00001
NM_001243279.3(ACSF3):c.1366+1G>A rs1389783773 0.00001
NM_001243279.3(ACSF3):c.1366+8C>T rs773327286 0.00001
NM_001243279.3(ACSF3):c.1367-11C>T rs770165483 0.00001
NM_001243279.3(ACSF3):c.1367-8T>A rs1281358829 0.00001
NM_001243279.3(ACSF3):c.1380G>T (p.Val460=) rs554032555 0.00001
NM_001243279.3(ACSF3):c.1392C>A (p.Gly464=) rs200661983 0.00001
NM_001243279.3(ACSF3):c.1395G>A (p.Gln465=) rs1451312853 0.00001
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter) rs748382994 0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln) rs387907119 0.00001
NM_001243279.3(ACSF3):c.1495A>C (p.Ile499Leu) rs1272786593 0.00001
NM_001243279.3(ACSF3):c.1501+10C>T rs375729407 0.00001
NM_001243279.3(ACSF3):c.1501+18G>A rs1295338073 0.00001
NM_001243279.3(ACSF3):c.1501+1G>T rs904050143 0.00001
NM_001243279.3(ACSF3):c.1501+20C>T rs368217690 0.00001
NM_001243279.3(ACSF3):c.1501+4C>T rs780845520 0.00001
NM_001243279.3(ACSF3):c.1502-10C>T rs573043890 0.00001
NM_001243279.3(ACSF3):c.1502-20A>G rs201055955 0.00001
NM_001243279.3(ACSF3):c.1502-2A>G rs1188774860 0.00001
NM_001243279.3(ACSF3):c.1502-8A>G rs760700508 0.00001
NM_001243279.3(ACSF3):c.1512G>A (p.Val504=) rs1912859667 0.00001
NM_001243279.3(ACSF3):c.1516G>A (p.Gly506Arg) rs141971462 0.00001
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter) rs1025201214 0.00001
NM_001243279.3(ACSF3):c.1560G>C (p.Val520=) rs765469862 0.00001
NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter) rs387907118 0.00001
NM_001243279.3(ACSF3):c.1580C>G (p.Ser527Ter) rs1457774840 0.00001
NM_001243279.3(ACSF3):c.1581A>G (p.Ser527=) rs753356664 0.00001
NM_001243279.3(ACSF3):c.159T>G (p.Phe53Leu) rs765633249 0.00001
NM_001243279.3(ACSF3):c.1613+1G>A rs770400253 0.00001
NM_001243279.3(ACSF3):c.1614-8C>G rs375091095 0.00001
NM_001243279.3(ACSF3):c.1617T>C (p.Asn539=) rs777157827 0.00001
NM_001243279.3(ACSF3):c.1618G>C (p.Val540Leu) rs570670205 0.00001
NM_001243279.3(ACSF3):c.1621C>T (p.Leu541=) rs149803422 0.00001
NM_001243279.3(ACSF3):c.1632C>T (p.Tyr544=) rs757338614 0.00001
NM_001243279.3(ACSF3):c.1638G>A (p.Val546=) rs1914447521 0.00001
NM_001243279.3(ACSF3):c.1656G>A (p.Leu552=) rs1025781878 0.00001
NM_001243279.3(ACSF3):c.1670C>T (p.Pro557Leu) rs780364085 0.00001
NM_001243279.3(ACSF3):c.1715A>C (p.His572Pro) rs1193534929 0.00001
NM_001243279.3(ACSF3):c.1722C>T (p.His574=) rs757130082 0.00001
NM_001243279.3(ACSF3):c.179T>G (p.Val60Gly) rs780402535 0.00001
NM_001243279.3(ACSF3):c.189C>T (p.His63=) rs562260243 0.00001
NM_001243279.3(ACSF3):c.201G>A (p.Thr67=) rs1259149379 0.00001
NM_001243279.3(ACSF3):c.220C>T (p.Arg74Cys) rs1407341761 0.00001
NM_001243279.3(ACSF3):c.221G>A (p.Arg74His) rs750707295 0.00001
NM_001243279.3(ACSF3):c.261G>C (p.Gly87=) rs779919537 0.00001
NM_001243279.3(ACSF3):c.267C>T (p.Val89=) rs746883692 0.00001
NM_001243279.3(ACSF3):c.305del (p.Cys102fs) rs760759040 0.00001
NM_001243279.3(ACSF3):c.324C>T (p.Tyr108=) rs763021932 0.00001
NM_001243279.3(ACSF3):c.328G>A (p.Val110Met) rs189821127 0.00001
NM_001243279.3(ACSF3):c.335A>C (p.Gln112Pro) rs2543521806 0.00001
NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter) rs757905943 0.00001
NM_001243279.3(ACSF3):c.363G>A (p.Val121=) rs777642279 0.00001
NM_001243279.3(ACSF3):c.365C>T (p.Ala122Val) rs1441479986 0.00001
NM_001243279.3(ACSF3):c.36G>T (p.Leu12=) rs1278089561 0.00001
NM_001243279.3(ACSF3):c.384G>A (p.Lys128=) rs541662926 0.00001
NM_001243279.3(ACSF3):c.393G>A (p.Ala131=) rs905316715 0.00001
NM_001243279.3(ACSF3):c.408T>A (p.Tyr136Ter) rs1313088429 0.00001
NM_001243279.3(ACSF3):c.417C>T (p.Cys139=) rs775755554 0.00001
NM_001243279.3(ACSF3):c.431C>T (p.Ser144Phe) rs774006659 0.00001
NM_001243279.3(ACSF3):c.451G>T (p.Glu151Ter) rs752338222 0.00001
NM_001243279.3(ACSF3):c.465C>T (p.Leu155=) rs1377484799 0.00001
NM_001243279.3(ACSF3):c.498G>A (p.Pro166=) rs748625786 0.00001
NM_001243279.3(ACSF3):c.507G>A (p.Pro169=) rs775166866 0.00001
NM_001243279.3(ACSF3):c.546G>A (p.Pro182=) rs755163107 0.00001
NM_001243279.3(ACSF3):c.555C>T (p.Val185=) rs1260446910 0.00001
NM_001243279.3(ACSF3):c.557C>T (p.Pro186Leu) rs376098216 0.00001
NM_001243279.3(ACSF3):c.575G>A (p.Trp192Ter) rs1975291440 0.00001
NM_001243279.3(ACSF3):c.588C>T (p.Gly196=) rs373441358 0.00001
NM_001243279.3(ACSF3):c.589G>A (p.Ala197Thr) rs761573352 0.00001
NM_001243279.3(ACSF3):c.609T>C (p.Ser203=) rs1166537408 0.00001
NM_001243279.3(ACSF3):c.618G>A (p.Thr206=) rs753012038 0.00001
NM_001243279.3(ACSF3):c.648C>T (p.His216=) rs377553361 0.00001
NM_001243279.3(ACSF3):c.663T>C (p.Ala221=) rs1374928980 0.00001
NM_001243279.3(ACSF3):c.666+19C>T rs976667680 0.00001
NM_001243279.3(ACSF3):c.666+1G>A rs1336382616 0.00001
NM_001243279.3(ACSF3):c.666+20G>A rs557738566 0.00001
NM_001243279.3(ACSF3):c.667-6C>G rs2543537770 0.00001
NM_001243279.3(ACSF3):c.678G>A (p.Leu226=) rs1336029211 0.00001
NM_001243279.3(ACSF3):c.693A>G (p.Ala231=) rs750797204 0.00001
NM_001243279.3(ACSF3):c.705C>T (p.Asp235=) rs766852572 0.00001
NM_001243279.3(ACSF3):c.738C>T (p.His246=) rs112722289 0.00001
NM_001243279.3(ACSF3):c.741C>A (p.Val247=) rs773357766 0.00001
NM_001243279.3(ACSF3):c.760C>T (p.Leu254=) rs764919377 0.00001
NM_001243279.3(ACSF3):c.765C>G (p.Leu255=) rs750139721 0.00001
NM_001243279.3(ACSF3):c.788C>G (p.Thr263Ser) rs1975498120 0.00001
NM_001243279.3(ACSF3):c.816T>G (p.Pro272=) rs1321795303 0.00001
NM_001243279.3(ACSF3):c.817C>T (p.Gln273Ter) rs749538361 0.00001
NM_001243279.3(ACSF3):c.822+10G>A rs771232327 0.00001
NM_001243279.3(ACSF3):c.822+16G>C rs768052017 0.00001
NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter) rs759338401 0.00001
NM_001243279.3(ACSF3):c.845C>G (p.Ser282Cys) rs777750370 0.00001
NM_001243279.3(ACSF3):c.858G>T (p.Arg286=) rs1378884062 0.00001
NM_001243279.3(ACSF3):c.861C>T (p.Ile287=) rs777328549 0.00001
NM_001243279.3(ACSF3):c.866del (p.Val289fs) rs758740850 0.00001
NM_001243279.3(ACSF3):c.876A>G (p.Ala292=) rs2543607293 0.00001
NM_001243279.3(ACSF3):c.885A>G (p.Thr295=) rs1482794101 0.00001
NM_001243279.3(ACSF3):c.909C>G (p.Tyr303Ter) rs1446221617 0.00001
NM_001243279.3(ACSF3):c.918G>A (p.Arg306=) rs942841837 0.00001
NM_001243279.3(ACSF3):c.952C>T (p.Arg318Cys) rs745453668 0.00001
NM_001243279.3(ACSF3):c.957A>C (p.Ala319=) rs1165098721 0.00001
NM_001243279.3(ACSF3):c.977+1G>A rs141056046 0.00001
NM_001243279.3(ACSF3):c.978-5C>T rs767914459 0.00001
NC_000016.10:g.(?_89100662)_(89154227_?)dup
NC_000016.10:g.89100703_89111915del
NC_000016.10:g.89112092del rs750594210
NC_000016.9:g.(?_89160207)_(89203247_?)del
NC_000016.9:g.(?_89160207)_(89212467_?)del
NC_000016.9:g.(?_89164989)_(89222264_?)del
NC_000016.9:g.(?_89167070)_(89180915_?)del
NC_000016.9:g.(?_89167070)_(89187341_?)dup
NC_000016.9:g.(?_89167090)_(89169187_?)del
NC_000016.9:g.(?_89167090)_(89187341_?)del
NC_000016.9:g.(?_89167090)_(89187341_?)dup
NC_000016.9:g.(?_89167090)_(89212477_?)del
NC_000016.9:g.(?_89167090)_(89220615_?)del
NC_000016.9:g.(?_89167109)_(89178321_?)del
NC_000016.9:g.(?_89167111)_(89178323_?)del
NC_000016.9:g.(?_89178490)_(89199680_?)dup
NC_000016.9:g.(?_89178490)_(89207694_?)del
NC_000016.9:g.(?_89178490)_(89212467_?)dup
NC_000016.9:g.(?_89178490)_(89222264_?)del
NC_000016.9:g.(?_89180727)_(89199690_?)del
NC_000016.9:g.(?_89183388)_(89187331_?)del
NC_000016.9:g.(?_89187199)_(89222264_?)del
NC_000016.9:g.(?_89199534)_(89199680_?)del
NC_000016.9:g.(?_89199534)_(89222264_?)del
NC_000016.9:g.(?_89211655)_(89212477_?)del
NC_000016.9:g.(?_89211655)_(89220615_?)dup
NC_000016.9:g.(?_89220488)_(89222264_?)del
NM_001243279.3(ACSF3):c.1003del (p.Leu335fs) rs2151453936
NM_001243279.3(ACSF3):c.1005G>A (p.Leu335=) rs1389252296
NM_001243279.3(ACSF3):c.1029G>A (p.Trp343Ter) rs1230056944
NM_001243279.3(ACSF3):c.1041G>A (p.Thr347=) rs376153659
NM_001243279.3(ACSF3):c.1041G>C (p.Thr347=) rs376153659
NM_001243279.3(ACSF3):c.1044C>T (p.Gly348=) rs2543626145
NM_001243279.3(ACSF3):c.1050C>A (p.Thr350=) rs899144976
NM_001243279.3(ACSF3):c.1053G>A (p.Leu351=) rs1567702985
NM_001243279.3(ACSF3):c.1053G>C (p.Leu351=) rs1567702985
NM_001243279.3(ACSF3):c.1060C>T (p.Arg354Trp) rs761084443
NM_001243279.3(ACSF3):c.1062G>T (p.Arg354=) rs2543626345
NM_001243279.3(ACSF3):c.1073C>T (p.Thr358Ile) rs387907120
NM_001243279.3(ACSF3):c.1074C>T (p.Thr358=) rs374451559
NM_001243279.3(ACSF3):c.1075G>C (p.Glu359Gln) rs150487794
NM_001243279.3(ACSF3):c.1080C>A (p.Ile360=) rs749101905
NM_001243279.3(ACSF3):c.1080C>T (p.Ile360=) rs749101905
NM_001243279.3(ACSF3):c.108A>G (p.Pro36=) rs746334624
NM_001243279.3(ACSF3):c.1090C>T (p.Leu364=) rs1156341271
NM_001243279.3(ACSF3):c.1092G>A (p.Leu364=) rs775808630
NM_001243279.3(ACSF3):c.1092G>C (p.Leu364=) rs775808630
NM_001243279.3(ACSF3):c.1092G>T (p.Leu364=) rs775808630
NM_001243279.3(ACSF3):c.1104del (p.Thr369fs) rs769183050
NM_001243279.3(ACSF3):c.1107C>G (p.Thr369=) rs750959933
NM_001243279.3(ACSF3):c.1110del (p.Ala371fs) rs2151454690
NM_001243279.3(ACSF3):c.1116G>A (p.Val372=) rs2151454775
NM_001243279.3(ACSF3):c.1117C>G (p.Arg373Gly) rs144907664
NM_001243279.3(ACSF3):c.1117C>T (p.Arg373Cys) rs144907664
NM_001243279.3(ACSF3):c.1119C>T (p.Arg373=) rs2151454814
NM_001243279.3(ACSF3):c.1121T>C (p.Leu374Pro) rs1904713918
NM_001243279.3(ACSF3):c.1126+10C>T rs2151454938
NM_001243279.3(ACSF3):c.1126+18A>C rs2543627317
NM_001243279.3(ACSF3):c.1126+1G>A rs916461556
NM_001243279.3(ACSF3):c.1126+5G>A rs371622529
NM_001243279.3(ACSF3):c.1126+5G>C rs371622529
NM_001243279.3(ACSF3):c.1127-12C>G rs377318017
NM_001243279.3(ACSF3):c.1127-12C>T rs377318017
NM_001243279.3(ACSF3):c.1127-14C>G rs774756903
NM_001243279.3(ACSF3):c.1127-2A>T rs2543677662
NM_001243279.3(ACSF3):c.1127-4G>A rs1327850217
NM_001243279.3(ACSF3):c.1127-7C>A rs761564953
NM_001243279.3(ACSF3):c.1131C>A (p.Ser377=) rs138395741
NM_001243279.3(ACSF3):c.1137dup (p.Thr380fs) rs2543677756
NM_001243279.3(ACSF3):c.1144C>T (p.Leu382=) rs1906458298
NM_001243279.3(ACSF3):c.1155A>C (p.Val385=) rs2543677910
NM_001243279.3(ACSF3):c.1155A>G (p.Val385=) rs2543677910
NM_001243279.3(ACSF3):c.1164C>T (p.Arg388=) rs2151478873
NM_001243279.3(ACSF3):c.1172C>G (p.Ser391Ter) rs2543678040
NM_001243279.3(ACSF3):c.117C>T (p.Arg39=) rs2151405382
NM_001243279.3(ACSF3):c.1183_1184del (p.Gln395fs) rs2151478908
NM_001243279.3(ACSF3):c.1183del (p.Gln395fs) rs2543678155
NM_001243279.3(ACSF3):c.1188G>A (p.Arg396=) rs1378994162
NM_001243279.3(ACSF3):c.1189del (p.Glu397fs) rs2543678183
NM_001243279.3(ACSF3):c.1194C>T (p.Ala398=) rs371890371
NM_001243279.3(ACSF3):c.1206C>T (p.Thr402=) rs2543678313
NM_001243279.3(ACSF3):c.1209C>A (p.Ile403=) rs1906478952
NM_001243279.3(ACSF3):c.1209C>T (p.Ile403=) rs1906478952
NM_001243279.3(ACSF3):c.120G>C (p.Ser40=)
NM_001243279.3(ACSF3):c.120G>T (p.Ser40=) rs34972688
NM_001243279.3(ACSF3):c.1219G>T (p.Gly407Ter) rs2543678395
NM_001243279.3(ACSF3):c.1227G>A (p.Glu409=) rs781247397
NM_001243279.3(ACSF3):c.1228_1229del (p.Arg410fs) rs2151479069
NM_001243279.3(ACSF3):c.1230G>A (p.Arg410=) rs2151479090
NM_001243279.3(ACSF3):c.1231_1239+9del rs2543678477
NM_001243279.3(ACSF3):c.1236C>G (p.Thr412=) rs2151479113
NM_001243279.3(ACSF3):c.1239+10T>C rs2151479176
NM_001243279.3(ACSF3):c.1239+11C>A rs1307911970
NM_001243279.3(ACSF3):c.1239+11C>G rs1307911970
NM_001243279.3(ACSF3):c.1239+14C>T rs1597987035
NM_001243279.3(ACSF3):c.1239+19G>A rs2543678814
NM_001243279.3(ACSF3):c.1239+7C>T rs1906490350
NM_001243279.3(ACSF3):c.1239+8A>T rs746314037
NM_001243279.3(ACSF3):c.123C>T (p.Asp41=) rs901883302
NM_001243279.3(ACSF3):c.1240-11A>C rs2543769592
NM_001243279.3(ACSF3):c.1240-15C>G rs2543769538
NM_001243279.3(ACSF3):c.1240-19T>C rs758641886
NM_001243279.3(ACSF3):c.1240-1G>C rs1203702127
NM_001243279.3(ACSF3):c.1240-6C>T rs2543769662
NM_001243279.3(ACSF3):c.1240-8C>T rs1598040505
NM_001243279.3(ACSF3):c.1245C>A (p.Thr415=) rs374578722
NM_001243279.3(ACSF3):c.1251G>A (p.Gly417=) rs3743984
NM_001243279.3(ACSF3):c.1257A>G (p.Glu419=) rs760524726
NM_001243279.3(ACSF3):c.1260A>G (p.Glu420=) rs2151520849
NM_001243279.3(ACSF3):c.1263G>A (p.Lys421=) rs768562298
NM_001243279.3(ACSF3):c.1270del (p.Glu424fs) rs775794698
NM_001243279.3(ACSF3):c.1280T>C (p.Val427Ala) rs2543769903
NM_001243279.3(ACSF3):c.1293C>T (p.Ser431=) rs1237151757
NM_001243279.3(ACSF3):c.1296G>C (p.Val432=) rs2543770037
NM_001243279.3(ACSF3):c.1296del (p.Arg434fs) rs764608253
NM_001243279.3(ACSF3):c.1299T>C (p.Phe433=) rs2151521008
NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro) rs137995833
NM_001243279.3(ACSF3):c.1305A>G (p.Glu435=) rs375414491
NM_001243279.3(ACSF3):c.1320A>G (p.Pro440=) rs998246075
NM_001243279.3(ACSF3):c.1328del (p.Thr443fs) rs2151521127
NM_001243279.3(ACSF3):c.132C>T (p.Ala44=) rs1444580425
NM_001243279.3(ACSF3):c.1345C>T (p.Leu449=) rs2151521187
NM_001243279.3(ACSF3):c.134del (p.Pro45fs) rs2151405469
NM_001243279.3(ACSF3):c.1353C>G (p.Gly451=) rs2543770428
NM_001243279.3(ACSF3):c.135G>A (p.Pro45=) rs775551806
NM_001243279.3(ACSF3):c.135G>C (p.Pro45=) rs775551806
NM_001243279.3(ACSF3):c.1366+11_1366+16del rs2543770553
NM_001243279.3(ACSF3):c.1366+15C>T rs2543770588
NM_001243279.3(ACSF3):c.1366+16A>G rs1909716571
NM_001243279.3(ACSF3):c.1366+9C>G rs2151521275
NM_001243279.3(ACSF3):c.1366+9C>T rs2151521275
NM_001243279.3(ACSF3):c.1367-13C>A
NM_001243279.3(ACSF3):c.1367-13C>T rs140859425
NM_001243279.3(ACSF3):c.1367-15G>T rs2543860851
NM_001243279.3(ACSF3):c.1367-18A>G
NM_001243279.3(ACSF3):c.1367-2_1367-1del rs2543860989
NM_001243279.3(ACSF3):c.1367-36_1367-7del rs2151562216
NM_001243279.3(ACSF3):c.1367-4T>A rs2151562350
NM_001243279.3(ACSF3):c.1368G>A (p.Gly456=) rs2151562365
NM_001243279.3(ACSF3):c.1368G>C (p.Gly456=) rs2151562365
NM_001243279.3(ACSF3):c.1378dup (p.Val460fs) rs751342087
NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp) rs2543861142
NM_001243279.3(ACSF3):c.138G>A (p.Val46=) rs1597887201
NM_001243279.3(ACSF3):c.1400G>A (p.Trp467Ter) rs2543861257
NM_001243279.3(ACSF3):c.1401G>A (p.Trp467Ter) rs1912700120
NM_001243279.3(ACSF3):c.1402A>C (p.Ile468Leu) rs1912700600
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_001243279.3(ACSF3):c.1407A>G (p.Arg469=) rs1912703262
NM_001243279.3(ACSF3):c.1407_1408del (p.Gly470fs) rs1912702795
NM_001243279.3(ACSF3):c.1410C>A (p.Gly470=) rs1912704218
NM_001243279.3(ACSF3):c.1410C>G (p.Gly470=) rs1912704218
NM_001243279.3(ACSF3):c.1410C>T (p.Gly470=) rs1912704218
NM_001243279.3(ACSF3):c.1413G>A (p.Arg471=) rs2543861353
NM_001243279.3(ACSF3):c.1419A>C (p.Ser473=) rs1912706484
NM_001243279.3(ACSF3):c.1419A>G (p.Ser473=) rs1912706484
NM_001243279.3(ACSF3):c.141C>T (p.Phe47=) rs2151405540
NM_001243279.3(ACSF3):c.1425C>T (p.Asp475=) rs2151562576
NM_001243279.3(ACSF3):c.1431C>T (p.Ile477=) rs1912708664
NM_001243279.3(ACSF3):c.1437T>C (p.Thr479=)
NM_001243279.3(ACSF3):c.1437T>G (p.Thr479=) rs2151562625
NM_001243279.3(ACSF3):c.1446C>T (p.Tyr482=) rs867782575
NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer) rs1064793662
NM_001243279.3(ACSF3):c.1449G>A (p.Lys483=) rs2151562665
NM_001243279.3(ACSF3):c.1455C>T (p.Ser485=) rs377487769
NM_001243279.3(ACSF3):c.1458C>T (p.Ala486=) rs2543861642
NM_001243279.3(ACSF3):c.1459C>T (p.Leu487=) rs2543861654
NM_001243279.3(ACSF3):c.1465G>T (p.Val489Leu) rs377596983
NM_001243279.3(ACSF3):c.1467G>A (p.Val489=) rs115776284
NM_001243279.3(ACSF3):c.1469A>T (p.Glu490Val)
NM_001243279.3(ACSF3):c.1476C>T (p.His492=) rs1348371629
NM_001243279.3(ACSF3):c.147T>A (p.Arg49=) rs2151405575
NM_001243279.3(ACSF3):c.1482G>C (p.Leu494=) rs2543861847
NM_001243279.3(ACSF3):c.1491C>G (p.Pro497=) rs2151562831
NM_001243279.3(ACSF3):c.1491C>T (p.Pro497=) rs2151562831
NM_001243279.3(ACSF3):c.1491del (p.Ser498fs) rs1217487621
NM_001243279.3(ACSF3):c.1494C>G (p.Ser498Arg) rs746403921
NM_001243279.3(ACSF3):c.1501+12G>A rs1349142980
NM_001243279.3(ACSF3):c.1501+1G>A rs904050143
NM_001243279.3(ACSF3):c.1502-11_1502-9del rs147884845
NM_001243279.3(ACSF3):c.1502-1G>C rs750796059
NM_001243279.3(ACSF3):c.1502-6C>A rs374673132
NM_001243279.3(ACSF3):c.1502-8A>C
NM_001243279.3(ACSF3):c.151C>T (p.Leu51=) rs1567683520
NM_001243279.3(ACSF3):c.1523C>T (p.Pro508Leu)
NM_001243279.3(ACSF3):c.1524G>C (p.Pro508=) rs375187216
NM_001243279.3(ACSF3):c.1524G>T (p.Pro508=) rs375187216
NM_001243279.3(ACSF3):c.1533A>G (p.Thr511=) rs1012271385
NM_001243279.3(ACSF3):c.1535G>T (p.Trp512Leu) rs1450563045
NM_001243279.3(ACSF3):c.1542G>A (p.Gln514=) rs746953848
NM_001243279.3(ACSF3):c.1545G>T (p.Arg515=) rs2543867012
NM_001243279.3(ACSF3):c.1546dup (p.Val516fs) rs2543867000
NM_001243279.3(ACSF3):c.1554T>G (p.Ala518=) rs2543867061
NM_001243279.3(ACSF3):c.1555G>A (p.Val519Met) rs2543867070
NM_001243279.3(ACSF3):c.155_161del (p.Ala52fs) rs745684193
NM_001243279.3(ACSF3):c.1563C>A (p.Thr521=) rs2543867166
NM_001243279.3(ACSF3):c.156C>G (p.Ala52=) rs746564011
NM_001243279.3(ACSF3):c.1573G>T (p.Gly525Ter) rs767958353
NM_001243279.3(ACSF3):c.1587C>G (p.Ser529=) rs778486871
NM_001243279.3(ACSF3):c.1587C>T (p.Ser529=) rs778486871
NM_001243279.3(ACSF3):c.1596G>A (p.Glu532=) rs1912883419
NM_001243279.3(ACSF3):c.1599C>T (p.Leu533=) rs2543867436
NM_001243279.3(ACSF3):c.159T>C (p.Phe53=)
NM_001243279.3(ACSF3):c.1602del (p.Glu535fs) rs1350227206
NM_001243279.3(ACSF3):c.1602dup (p.Glu535fs) rs1350227206
NM_001243279.3(ACSF3):c.1607G>A (p.Trp536Ter) rs779820462
NM_001243279.3(ACSF3):c.1607G>C (p.Trp536Ser) rs779820462
NM_001243279.3(ACSF3):c.1609del (p.Ala537fs) rs1912887899
NM_001243279.3(ACSF3):c.1611C>T (p.Ala537=) rs1342315943
NM_001243279.3(ACSF3):c.1613+16del rs748023857
NM_001243279.3(ACSF3):c.1613+20G>T rs2543867927
NM_001243279.3(ACSF3):c.1613+2T>C rs2151564932
NM_001243279.3(ACSF3):c.1613+7C>T rs1179755069
NM_001243279.3(ACSF3):c.1613+9G>T rs974191447
NM_001243279.3(ACSF3):c.1614-16G>A rs1235757210
NM_001243279.3(ACSF3):c.1614-7T>C rs2543916557
NM_001243279.3(ACSF3):c.1614-8C>T rs375091095
NM_001243279.3(ACSF3):c.1629G>T (p.Pro543=) rs146779456
NM_001243279.3(ACSF3):c.1629delinsAC (p.Tyr544fs) rs1914445437
NM_001243279.3(ACSF3):c.162G>A (p.Gly54=) rs2543520211
NM_001243279.3(ACSF3):c.1632C>A (p.Tyr544Ter) rs757338614
NM_001243279.3(ACSF3):c.1643C>A (p.Ser548Ter) rs139520739
NM_001243279.3(ACSF3):c.1645G>T (p.Glu549Ter) rs2543916866
NM_001243279.3(ACSF3):c.1650G>A (p.Leu550=) rs1597281839
NM_001243279.3(ACSF3):c.1654C>T (p.Leu552=) rs2543916913
NM_001243279.3(ACSF3):c.1656G>C (p.Leu552=) rs1025781878
NM_001243279.3(ACSF3):c.1665G>A (p.Glu555=) rs1245847525
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro) rs140328142
NM_001243279.3(ACSF3):c.1695C>T (p.Asp565=) rs767036317
NM_001243279.3(ACSF3):c.1698G>A (p.Lys566=) rs2151586215
NM_001243279.3(ACSF3):c.16del (p.Val6fs) rs1338859307
NM_001243279.3(ACSF3):c.1704G>T (p.Ala568=) rs539500659
NM_001243279.3(ACSF3):c.1707C>A (p.Leu569=) rs763984193
NM_001243279.3(ACSF3):c.1707C>T (p.Leu569=) rs763984193
NM_001243279.3(ACSF3):c.1710C>T (p.Ile570=) rs753754672
NM_001243279.3(ACSF3):c.1711A>G (p.Arg571Gly) rs1448355025
NM_001243279.3(ACSF3):c.1716C>T (p.His572=) rs2543917400
NM_001243279.3(ACSF3):c.1719C>T (p.Phe573=) rs1914461577
NM_001243279.3(ACSF3):c.1720del (p.His574fs) rs1471702467
NM_001243279.3(ACSF3):c.1724C>A (p.Pro575His)
NM_001243279.3(ACSF3):c.1728A>G (p.Ser576=) rs1914464370
NM_001243279.3(ACSF3):c.1730G>A (p.Ter577=) rs2151586302
NM_001243279.3(ACSF3):c.177G>A (p.Leu59=) rs1975213194
NM_001243279.3(ACSF3):c.184C>T (p.Gln62Ter) rs2543520372
NM_001243279.3(ACSF3):c.186_196dup (p.His66fs) rs1776373606
NM_001243279.3(ACSF3):c.192C>T (p.Gly64=) rs770572252
NM_001243279.3(ACSF3):c.198C>G (p.His66Gln) rs1975216832
NM_001243279.3(ACSF3):c.216T>C (p.Tyr72=) rs1405537973
NM_001243279.3(ACSF3):c.217T>C (p.Ser73Pro) rs776862565
NM_001243279.3(ACSF3):c.219C>A (p.Ser73=) rs1975219207
NM_001243279.3(ACSF3):c.220dup (p.Arg74fs) rs2543520647
NM_001243279.3(ACSF3):c.231C>T (p.Arg77=) rs1278084279
NM_001243279.3(ACSF3):c.237C>T (p.Ser79=) rs2151406106
NM_001243279.3(ACSF3):c.238del (p.Gln80fs) rs2543520799
NM_001243279.3(ACSF3):c.243G>C (p.Glu81Asp) rs1436170905
NM_001243279.3(ACSF3):c.24C>G (p.Thr8=) rs2543519058
NM_001243279.3(ACSF3):c.24C>T (p.Thr8=)
NM_001243279.3(ACSF3):c.251G>A (p.Arg84Lys) rs373476048
NM_001243279.3(ACSF3):c.252G>A (p.Arg84=) rs1281880111
NM_001243279.3(ACSF3):c.255C>G (p.Leu85=) rs2543520998
NM_001243279.3(ACSF3):c.255C>T (p.Leu85=) rs2543520998
NM_001243279.3(ACSF3):c.261del (p.Cys88fs) rs775569136
NM_001243279.3(ACSF3):c.278T>G (p.Leu93Arg) rs143605434
NM_001243279.3(ACSF3):c.27C>T (p.Phe9=) rs2543519066
NM_001243279.3(ACSF3):c.280C>T (p.Arg94Trp) rs530503915
NM_001243279.3(ACSF3):c.282G>A (p.Arg94=) rs2151406487
NM_001243279.3(ACSF3):c.286G>T (p.Glu96Ter) rs1975233179
NM_001243279.3(ACSF3):c.291G>C (p.Arg97Ser) rs1299639090
NM_001243279.3(ACSF3):c.294C>T (p.Val98=) rs1439239345
NM_001243279.3(ACSF3):c.295_296del (p.Ser99fs) rs2543521355
NM_001243279.3(ACSF3):c.297C>A (p.Ser99=) rs59213357
NM_001243279.3(ACSF3):c.303A>G (p.Leu101=) rs1467035615
NM_001243279.3(ACSF3):c.315_316delinsCT (p.Ala106Ser) rs2151406892
NM_001243279.3(ACSF3):c.323_402dup (p.Glu135delinsThrSerTrpProSerGlyArgHisGlyTer) rs2543521676
NM_001243279.3(ACSF3):c.32G>T (p.Arg11Leu) rs781163359
NM_001243279.3(ACSF3):c.333C>G (p.Ala111=) rs1267933456
NM_001243279.3(ACSF3):c.333C>T (p.Ala111=) rs1267933456
NM_001243279.3(ACSF3):c.33C>G (p.Arg11=) rs1386954162
NM_001243279.3(ACSF3):c.33C>T (p.Arg11=) rs1386954162
NM_001243279.3(ACSF3):c.342G>A (p.Ala114=) rs6500527
NM_001243279.3(ACSF3):c.345A>G (p.Ser115=) rs1446396475
NM_001243279.3(ACSF3):c.358G>T (p.Gly120Cys)
NM_001243279.3(ACSF3):c.369C>G (p.Val123=) rs6500529
NM_001243279.3(ACSF3):c.371C>G (p.Pro124Arg) rs1292276846
NM_001243279.3(ACSF3):c.390C>G (p.Pro130=) rs368192538
NM_001243279.3(ACSF3):c.396C>A (p.Ala132=) rs1160790342
NM_001243279.3(ACSF3):c.399G>A (p.Gln133=) rs370968781
NM_001243279.3(ACSF3):c.399G>C (p.Gln133His) rs370968781
NM_001243279.3(ACSF3):c.401_404dup (p.Glu135fs) rs2543522531
NM_001243279.3(ACSF3):c.408T>G (p.Tyr136Ter) rs1313088429
NM_001243279.3(ACSF3):c.423C>G (p.Ser141=) rs2543522740
NM_001243279.3(ACSF3):c.428G>T (p.Ser143Ile) rs952318867
NM_001243279.3(ACSF3):c.435G>A (p.Val145=) rs759185741
NM_001243279.3(ACSF3):c.438C>T (p.Val146=) rs1381436509
NM_001243279.3(ACSF3):c.444C>T (p.Ala148=) rs1373108224
NM_001243279.3(ACSF3):c.448C>T (p.Gln150Ter) rs767268139
NM_001243279.3(ACSF3):c.453G>A (p.Glu151=) rs1975267890
NM_001243279.3(ACSF3):c.456C>T (p.Tyr152=) rs147899198
NM_001243279.3(ACSF3):c.45C>T (p.Ala15=) rs771481057
NM_001243279.3(ACSF3):c.468G>A (p.Leu156=) rs2543523086
NM_001243279.3(ACSF3):c.474G>C (p.Pro158=) rs757199694
NM_001243279.3(ACSF3):c.474G>T (p.Pro158=) rs757199694
NM_001243279.3(ACSF3):c.477G>C (p.Val159=) rs1475922401
NM_001243279.3(ACSF3):c.481A>C (p.Arg161=) rs758530787
NM_001243279.3(ACSF3):c.486G>A (p.Lys162=) rs2151408219
NM_001243279.3(ACSF3):c.495C>T (p.Val165=)
NM_001243279.3(ACSF3):c.498G>C (p.Pro166=) rs748625786
NM_001243279.3(ACSF3):c.498G>T (p.Pro166=) rs748625786
NM_001243279.3(ACSF3):c.49G>A (p.Ala17Thr) rs11547019
NM_001243279.3(ACSF3):c.501G>A (p.Leu167=) rs770424587
NM_001243279.3(ACSF3):c.501G>T (p.Leu167=)
NM_001243279.3(ACSF3):c.502C>T (p.Leu168=) rs1403364770
NM_001243279.3(ACSF3):c.51G>A (p.Ala17=) rs7201122
NM_001243279.3(ACSF3):c.51G>T (p.Ala17=) rs7201122
NM_001243279.3(ACSF3):c.538G>C (p.Glu180Gln) rs2543523931
NM_001243279.3(ACSF3):c.540G>A (p.Glu180=) rs866824182
NM_001243279.3(ACSF3):c.541G>A (p.Glu181Lys) rs1567685421
NM_001243279.3(ACSF3):c.549A>G (p.Ala183=) rs2151408822
NM_001243279.3(ACSF3):c.54C>T (p.Ser18=) rs2151405049
NM_001243279.3(ACSF3):c.555C>G (p.Val185=) rs1260446910
NM_001243279.3(ACSF3):c.558G>C (p.Pro186=) rs756599875
NM_001243279.3(ACSF3):c.573A>G (p.Gly191=) rs1307415970
NM_001243279.3(ACSF3):c.573A>T (p.Gly191=) rs1307415970
NM_001243279.3(ACSF3):c.579G>A (p.Arg193=) rs528237336
NM_001243279.3(ACSF3):c.582C>T (p.Asn194=) rs746604282
NM_001243279.3(ACSF3):c.583A>T (p.Lys195Ter) rs1366314967
NM_001243279.3(ACSF3):c.585G>A (p.Lys195=) rs2151409119
NM_001243279.3(ACSF3):c.591C>T (p.Ala197=) rs1259550164
NM_001243279.3(ACSF3):c.5_6inv (p.Leu2Pro)
NM_001243279.3(ACSF3):c.600C>T (p.Ile200=) rs147597284
NM_001243279.3(ACSF3):c.606C>T (p.Thr202=)
NM_001243279.3(ACSF3):c.60G>A (p.Arg20=) rs1555560476
NM_001243279.3(ACSF3):c.60G>T (p.Arg20=) rs1555560476
NM_001243279.3(ACSF3):c.612G>T (p.Gly204=) rs1405817522
NM_001243279.3(ACSF3):c.618G>T (p.Thr206=) rs753012038
NM_001243279.3(ACSF3):c.633C>G (p.Gly211=) rs140941507
NM_001243279.3(ACSF3):c.638T>C (p.Leu213Pro) rs997839400
NM_001243279.3(ACSF3):c.643_647del (p.Thr215fs) rs1567685802
NM_001243279.3(ACSF3):c.645G>C (p.Thr215=) rs772996642
NM_001243279.3(ACSF3):c.657C>T (p.Ile219=) rs1176456306
NM_001243279.3(ACSF3):c.666+10G>A rs752914229
NM_001243279.3(ACSF3):c.666+10G>C rs752914229
NM_001243279.3(ACSF3):c.666+10G>T rs752914229
NM_001243279.3(ACSF3):c.666+12C>A
NM_001243279.3(ACSF3):c.666+12C>T rs756416005
NM_001243279.3(ACSF3):c.666+19C>G
NM_001243279.3(ACSF3):c.666+1G>T rs1336382616
NM_001243279.3(ACSF3):c.667-10T>C rs2543537665
NM_001243279.3(ACSF3):c.667-14C>G rs375555298
NM_001243279.3(ACSF3):c.667-19G>A rs560458501
NM_001243279.3(ACSF3):c.667-1G>T rs778778276
NM_001243279.3(ACSF3):c.667-4G>A rs1211573607
NM_001243279.3(ACSF3):c.667-9C>A rs369865917
NM_001243279.3(ACSF3):c.667-9C>G rs369865917
NM_001243279.3(ACSF3):c.667-9C>T rs369865917
NM_001243279.3(ACSF3):c.669G>A (p.Val223=) rs772127402
NM_001243279.3(ACSF3):c.669G>T (p.Val223=) rs772127402
NM_001243279.3(ACSF3):c.66G>T (p.Ala22=) rs751461445
NM_001243279.3(ACSF3):c.671C>T (p.Thr224Ile) rs775624630
NM_001243279.3(ACSF3):c.675del (p.Leu226fs) rs1597898076
NM_001243279.3(ACSF3):c.682C>G (p.His228Asp) rs1597898108
NM_001243279.3(ACSF3):c.690G>A (p.Trp230Ter) rs1432097143
NM_001243279.3(ACSF3):c.691G>A (p.Ala231Thr) rs765454020
NM_001243279.3(ACSF3):c.699C>T (p.Thr233=) rs1597898198
NM_001243279.3(ACSF3):c.709G>A (p.Val237Met) rs763619768
NM_001243279.3(ACSF3):c.714C>T (p.Ile238=) rs756934667
NM_001243279.3(ACSF3):c.723G>A (p.Val241=) rs1597898369
NM_001243279.3(ACSF3):c.723G>T (p.Val241=) rs1597898369
NM_001243279.3(ACSF3):c.729G>A (p.Pro243=) rs768799062
NM_001243279.3(ACSF3):c.729G>T (p.Pro243=) rs768799062
NM_001243279.3(ACSF3):c.72G>C (p.Ala24=) rs752720474
NM_001243279.3(ACSF3):c.732G>C (p.Leu244=) rs1975490271
NM_001243279.3(ACSF3):c.735C>T (p.His245=) rs1397465454
NM_001243279.3(ACSF3):c.746G>A (p.Gly249Asp) rs1381634837
NM_001243279.3(ACSF3):c.747T>C (p.Gly249=) rs1419853894
NM_001243279.3(ACSF3):c.750G>T (p.Val250=) rs1045898328
NM_001243279.3(ACSF3):c.755A>G (p.Asn252Ser) rs373246881
NM_001243279.3(ACSF3):c.755A>T (p.Asn252Ile) rs373246881
NM_001243279.3(ACSF3):c.757dup (p.Ala253fs) rs1975494455
NM_001243279.3(ACSF3):c.758C>A (p.Ala253Glu) rs762286480
NM_001243279.3(ACSF3):c.759G>T (p.Ala253=) rs765643653
NM_001243279.3(ACSF3):c.75A>G (p.Arg25=) rs931176162
NM_001243279.3(ACSF3):c.762G>A (p.Leu254=) rs2151416739
NM_001243279.3(ACSF3):c.765C>T (p.Leu255=) rs750139721
NM_001243279.3(ACSF3):c.771T>A (p.Pro257=) rs2543538809
NM_001243279.3(ACSF3):c.782G>C (p.Gly261Ala) rs1277612080
NM_001243279.3(ACSF3):c.786C>A (p.Ala262=) rs2151416786
NM_001243279.3(ACSF3):c.789C>G (p.Thr263=) rs1975498351
NM_001243279.3(ACSF3):c.792T>C (p.Cys264=) rs2151416808
NM_001243279.3(ACSF3):c.79A>C (p.Arg27=) rs1975193560
NM_001243279.3(ACSF3):c.803del (p.Pro268fs) rs767946490
NM_001243279.3(ACSF3):c.804T>C (p.Pro268=) rs1597898947
NM_001243279.3(ACSF3):c.814_820del (p.Pro272fs) rs2543539072
NM_001243279.3(ACSF3):c.820C>T (p.Gln274Ter) rs2151416957
NM_001243279.3(ACSF3):c.822+10G>C rs771232327
NM_001243279.3(ACSF3):c.822+12_822+61del rs2543539220
NM_001243279.3(ACSF3):c.822+15G>A rs1975506025
NM_001243279.3(ACSF3):c.822+17G>A
NM_001243279.3(ACSF3):c.822+1G>A rs2151416991
NM_001243279.3(ACSF3):c.822+2T>C rs1975502704
NM_001243279.3(ACSF3):c.822+9G>C
NM_001243279.3(ACSF3):c.823-17C>G
NM_001243279.3(ACSF3):c.823-18G>T rs1976744871
NM_001243279.3(ACSF3):c.823-19T>C rs1405205975
NM_001243279.3(ACSF3):c.823-1G>A rs2543606903
NM_001243279.3(ACSF3):c.823-4G>A rs558325262
NM_001243279.3(ACSF3):c.823-7T>A rs2543606648
NM_001243279.3(ACSF3):c.823-8C>G rs776024101
NM_001243279.3(ACSF3):c.828G>A (p.Trp276Ter) rs570233664
NM_001243279.3(ACSF3):c.831A>G (p.Glu277=) rs2543606968
NM_001243279.3(ACSF3):c.837C>T (p.Phe279=) rs2543607022
NM_001243279.3(ACSF3):c.838T>C (p.Leu280=) rs2543607030
NM_001243279.3(ACSF3):c.846T>C (p.Ser282=) rs1597942772
NM_001243279.3(ACSF3):c.84A>G (p.Gly28=) rs2543519574
NM_001243279.3(ACSF3):c.856C>A (p.Arg286=) rs148146761
NM_001243279.3(ACSF3):c.858G>C (p.Arg286=) rs1378884062
NM_001243279.3(ACSF3):c.862A>G (p.Asn288Asp) rs2151444631
NM_001243279.3(ACSF3):c.864T>C (p.Asn288=) rs762523304
NM_001243279.3(ACSF3):c.867C>A (p.Val289=) rs1246005897
NM_001243279.3(ACSF3):c.867C>T (p.Val289=) rs1246005897
NM_001243279.3(ACSF3):c.870T>C (p.Phe290=) rs2151444679
NM_001243279.3(ACSF3):c.880C>T (p.Pro294Ser) rs2543607322
NM_001243279.3(ACSF3):c.888dup (p.Tyr297fs) rs2543607383
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter) rs2151444797
NM_001243279.3(ACSF3):c.894C>G (p.Thr298=) rs2151444809
NM_001243279.3(ACSF3):c.896_899dup (p.Met301fs) rs2543607458
NM_001243279.3(ACSF3):c.900G>A (p.Leu300=) rs1976764124
NM_001243279.3(ACSF3):c.904G>T (p.Glu302Ter) rs2543607537
NM_001243279.3(ACSF3):c.906G>A (p.Glu302=) rs1976765433
NM_001243279.3(ACSF3):c.915C>G (p.Asp305Glu) rs765321738
NM_001243279.3(ACSF3):c.91C>T (p.Leu31Phe) rs1975195262
NM_001243279.3(ACSF3):c.928C>T (p.Gln310Ter) rs1397919778
NM_001243279.3(ACSF3):c.92T>C (p.Leu31Pro) rs2543519630
NM_001243279.3(ACSF3):c.939C>T (p.Ala313=) rs770510501
NM_001243279.3(ACSF3):c.940C>T (p.Gln314Ter) rs1976773862
NM_001243279.3(ACSF3):c.952C>A (p.Arg318Ser) rs745453668
NM_001243279.3(ACSF3):c.953del (p.Arg318fs) rs2543607986
NM_001243279.3(ACSF3):c.957A>G (p.Ala319=) rs1165098721
NM_001243279.3(ACSF3):c.973del (p.Ile325fs) rs1315251471
NM_001243279.3(ACSF3):c.977+18A>G rs1976784225
NM_001243279.3(ACSF3):c.977+1G>C rs141056046
NM_001243279.3(ACSF3):c.977+1G>T rs141056046
NM_001243279.3(ACSF3):c.978-11_978-9del
NM_001243279.3(ACSF3):c.978-19C>G rs769697688
NM_001243279.3(ACSF3):c.978-20C>T rs2543625330
NM_001243279.3(ACSF3):c.978-2A>G rs947840739
NM_001243279.3(ACSF3):c.978-6G>T rs377217672
NM_001243279.3(ACSF3):c.978-8C>T rs2543625517
NM_001243279.3(ACSF3):c.987C>A (p.Val329=) rs1426240105
NM_001243279.3(ACSF3):c.990A>G (p.Ser330=) rs2151453873
NM_001243279.3(ACSF3):c.993C>T (p.Gly331=) rs2543625726
NM_001243279.3(ACSF3):c.996A>G (p.Ser332=) rs75591977
NM_001243279.3(ACSF3):c.999T>C (p.Ala333=) rs2151453925

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