ClinVar Miner

List of variants studied for cobblestone lissencephaly

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 576
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HGVS dbSNP gnomAD frequency
NM_004393.6(DAG1):c.41C>G (p.Ser14Trp) rs2131107 0.97526
NM_002291.3(LAMB1):c.5225-7C>T rs3213673 0.64814
NM_004393.6(DAG1):c.*250T>C rs1050088 0.39364
NM_004393.6(DAG1):c.2256C>T (p.His752=) rs1801143 0.30176
NM_004393.6(DAG1):c.41= (p.Ser14=) rs1553648360 0.02474
NM_004393.6(DAG1):c.2231G>C (p.Ser744Thr) rs114357468 0.00947
NM_004393.6(DAG1):c.2271C>T (p.Ala757=) rs78281659 0.00786
NM_004393.6(DAG1):c.259A>G (p.Ile87Val) rs116717961 0.00640
NM_004393.6(DAG1):c.1701C>T (p.Ser567=) rs142579425 0.00456
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe) rs145403829 0.00314
NM_004393.6(DAG1):c.1233G>A (p.Val411=) rs145765079 0.00249
NM_004393.6(DAG1):c.2036G>A (p.Arg679His) rs113904914 0.00227
NM_004393.6(DAG1):c.599C>G (p.Thr200Ser) rs41290704 0.00167
NM_002291.3(LAMB1):c.2723T>C (p.Ile908Thr) rs139487685 0.00121
NM_004393.6(DAG1):c.607A>T (p.Thr203Ser) rs200094365 0.00108
NM_004393.6(DAG1):c.278T>C (p.Ile93Thr) rs149218670 0.00106
NM_004393.6(DAG1):c.2082C>T (p.Asn694=) rs146453412 0.00091
NM_004393.6(DAG1):c.2520T>C (p.Thr840=) rs149564053 0.00074
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn) rs117209107 0.00072
NM_004393.6(DAG1):c.1212G>A (p.Thr404=) rs139781017 0.00051
NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile) rs148759919 0.00048
NM_004393.6(DAG1):c.920C>G (p.Pro307Arg) rs374092106 0.00024
NM_002291.3(LAMB1):c.4183G>A (p.Glu1395Lys) rs146045042 0.00022
NM_004393.6(DAG1):c.1829C>T (p.Ala610Val) rs537920451 0.00018
NM_004393.6(DAG1):c.1308G>A (p.Thr436=) rs143763229 0.00017
NM_004393.6(DAG1):c.1360C>T (p.Arg454Trp) rs369872091 0.00017
NM_002291.3(LAMB1):c.2315-28A>G rs778943882 0.00016
NM_004393.6(DAG1):c.1719C>T (p.His573=) rs146157416 0.00016
NM_004393.6(DAG1):c.1757C>T (p.Ser586Leu) rs371990100 0.00015
NM_004393.6(DAG1):c.402C>T (p.Ser134=) rs367603470 0.00015
NM_004393.6(DAG1):c.372T>G (p.Thr124=) rs555051245 0.00014
NM_004393.6(DAG1):c.965C>T (p.Thr322Ile) rs376602004 0.00014
NM_002291.3(LAMB1):c.4277G>C (p.Gly1426Ala) rs200107269 0.00013
NM_004393.6(DAG1):c.613A>G (p.Lys205Glu) rs145871499 0.00013
NM_004393.6(DAG1):c.1799A>G (p.Gln600Arg) rs369180031 0.00012
NM_004393.6(DAG1):c.286-10del rs747305463 0.00012
NM_004393.6(DAG1):c.1205G>T (p.Arg402Leu) rs537829489 0.00010
NM_004393.6(DAG1):c.1215G>A (p.Met405Ile) rs141238609 0.00010
NM_004393.6(DAG1):c.1287A>G (p.Val429=) rs200282503 0.00009
NM_004393.6(DAG1):c.1306A>G (p.Thr436Ala) rs149838438 0.00009
NM_004393.6(DAG1):c.1307C>T (p.Thr436Met) rs143573515 0.00009
NM_004393.6(DAG1):c.2349T>C (p.Leu783=) rs201280782 0.00009
NM_004393.6(DAG1):c.1280C>T (p.Pro427Leu) rs770985285 0.00008
NM_004393.6(DAG1):c.815C>T (p.Pro272Leu) rs371509534 0.00008
NM_004393.6(DAG1):c.183T>C (p.Val61=) rs775928044 0.00007
NM_002291.3(LAMB1):c.5347A>G (p.Ser1783Gly) rs374245297 0.00006
NM_004393.6(DAG1):c.1101G>A (p.Thr367=) rs142406476 0.00006
NM_004393.6(DAG1):c.1471G>A (p.Gly491Arg) rs199728911 0.00006
NM_004393.6(DAG1):c.1690C>A (p.Leu564Ile) rs199894361 0.00006
NM_004393.6(DAG1):c.1708G>A (p.Val570Met) rs370669533 0.00006
NM_004393.6(DAG1):c.1773C>T (p.Phe591=) rs2229010 0.00006
NM_004393.6(DAG1):c.244A>G (p.Ile82Val) rs141706514 0.00006
NM_004393.6(DAG1):c.2576A>G (p.Asn859Ser) rs754079735 0.00006
NM_004393.6(DAG1):c.293C>T (p.Ala98Val) rs200871775 0.00006
NM_004393.6(DAG1):c.349C>T (p.Leu117=) rs146011758 0.00006
NM_004393.6(DAG1):c.510C>A (p.Ala170=) rs147153370 0.00006
NM_004393.6(DAG1):c.735G>A (p.Pro245=) rs748164001 0.00006
NM_004393.6(DAG1):c.829G>A (p.Val277Ile) rs375892170 0.00006
NM_004393.6(DAG1):c.927C>T (p.Arg309=) rs551679833 0.00006
NM_002291.3(LAMB1):c.1069G>A (p.Val357Ile) rs200303288 0.00005
NM_004393.6(DAG1):c.1051A>G (p.Thr351Ala) rs376991799 0.00005
NM_004393.6(DAG1):c.1240A>T (p.Thr414Ser) rs768983113 0.00005
NM_004393.6(DAG1):c.185C>T (p.Pro62Leu) rs375938350 0.00005
NM_004393.6(DAG1):c.1954C>T (p.Arg652Trp) rs151272832 0.00005
NM_004393.6(DAG1):c.2192C>T (p.Ala731Val) rs375071274 0.00005
NM_004393.6(DAG1):c.2406C>T (p.Asp802=) rs146134719 0.00005
NM_004393.6(DAG1):c.49A>G (p.Thr17Ala) rs760423386 0.00005
NM_002291.3(LAMB1):c.1694G>A (p.Gly565Glu) rs376567054 0.00004
NM_002291.3(LAMB1):c.4237G>A (p.Gly1413Arg) rs369198991 0.00004
NM_004393.6(DAG1):c.1046C>T (p.Pro349Leu) rs200233956 0.00004
NM_004393.6(DAG1):c.1283G>A (p.Arg428Gln) rs780793711 0.00004
NM_004393.6(DAG1):c.1370G>A (p.Arg457Gln) rs756890406 0.00004
NM_004393.6(DAG1):c.1432A>G (p.Thr478Ala) rs767278957 0.00004
NM_004393.6(DAG1):c.1695C>T (p.Pro565=) rs773066265 0.00004
NM_004393.6(DAG1):c.2022C>T (p.Ile674=) rs199795910 0.00004
NM_004393.6(DAG1):c.2026G>C (p.Gly676Arg) rs757032530 0.00004
NM_004393.6(DAG1):c.2038C>T (p.Arg680Trp) rs775023091 0.00004
NM_004393.6(DAG1):c.2039G>A (p.Arg680Gln) rs376931365 0.00004
NM_004393.6(DAG1):c.2065C>T (p.Arg689Trp) rs138933315 0.00004
NM_004393.6(DAG1):c.2123C>T (p.Thr708Met) rs758254304 0.00004
NM_004393.6(DAG1):c.219C>T (p.Val73=) rs145165301 0.00004
NM_004393.6(DAG1):c.220G>A (p.Val74Ile) rs189360006 0.00004
NM_004393.6(DAG1):c.222C>T (p.Val74=) rs150727558 0.00004
NM_004393.6(DAG1):c.2326C>T (p.Arg776Cys) rs752441031 0.00004
NM_004393.6(DAG1):c.243C>G (p.Thr81=) rs202047972 0.00004
NM_004393.6(DAG1):c.2660G>A (p.Arg887Gln) rs776025512 0.00004
NM_004393.6(DAG1):c.286-5T>C rs894752417 0.00004
NM_004393.6(DAG1):c.294G>A (p.Ala98=) rs752506833 0.00004
NM_004393.6(DAG1):c.45G>A (p.Gly15=) rs771967262 0.00004
NM_004393.6(DAG1):c.535T>A (p.Ser179Thr) rs201869343 0.00004
NM_004393.6(DAG1):c.539C>T (p.Ser180Phe) rs756584618 0.00004
NM_004393.6(DAG1):c.835G>T (p.Ala279Ser) rs202239406 0.00004
NM_004393.6(DAG1):c.853G>A (p.Ala285Thr) rs78720195 0.00004
NM_004393.6(DAG1):c.971T>A (p.Ile324Asn) rs745449164 0.00004
NM_004393.6(DAG1):c.1181G>A (p.Gly394Asp) rs1318377074 0.00003
NM_004393.6(DAG1):c.1556C>T (p.Pro519Leu) rs761585454 0.00003
NM_004393.6(DAG1):c.1846C>T (p.Pro616Ser) rs372730352 0.00003
NM_004393.6(DAG1):c.1937C>T (p.Thr646Ile) rs745546522 0.00003
NM_004393.6(DAG1):c.1966G>A (p.Val656Met) rs1313375346 0.00003
NM_004393.6(DAG1):c.2023G>A (p.Ala675Thr) rs764063699 0.00003
NM_004393.6(DAG1):c.213G>A (p.Thr71=) rs148703095 0.00003
NM_004393.6(DAG1):c.2451C>G (p.Leu817=) rs886042761 0.00003
NM_004393.6(DAG1):c.2536A>C (p.Thr846Pro) rs775365808 0.00003
NM_004393.6(DAG1):c.2600C>T (p.Pro867Leu) rs199506692 0.00003
NM_004393.6(DAG1):c.2659C>T (p.Arg887Trp) rs148461041 0.00003
NM_004393.6(DAG1):c.2667T>A (p.Pro889=) rs760977919 0.00003
NM_004393.6(DAG1):c.414G>T (p.Leu138=) rs763846062 0.00003
NM_004393.6(DAG1):c.634C>A (p.His212Asn) rs146574353 0.00003
NM_002291.3(LAMB1):c.2270A>C (p.Asn757Thr) rs761321107 0.00002
NM_002291.3(LAMB1):c.2402G>A (p.Arg801Lys) rs755654690 0.00002
NM_002291.3(LAMB1):c.4648C>T (p.Arg1550Ter) rs1292231609 0.00002
NM_004393.6(DAG1):c.1111C>T (p.Arg371Trp) rs62261248 0.00002
NM_004393.6(DAG1):c.1186A>G (p.Thr396Ala) rs779846682 0.00002
NM_004393.6(DAG1):c.1210A>G (p.Thr404Ala) rs769229834 0.00002
NM_004393.6(DAG1):c.1278G>A (p.Lys426=) rs766093420 0.00002
NM_004393.6(DAG1):c.1369C>T (p.Arg457Trp) rs544574838 0.00002
NM_004393.6(DAG1):c.1454G>A (p.Ser485Asn) rs764859263 0.00002
NM_004393.6(DAG1):c.1470C>T (p.Gly490=) rs545248602 0.00002
NM_004393.6(DAG1):c.1535C>T (p.Thr512Ile) rs527867946 0.00002
NM_004393.6(DAG1):c.1571A>G (p.Tyr524Cys) rs767905225 0.00002
NM_004393.6(DAG1):c.1641C>T (p.Gly547=) rs374490206 0.00002
NM_004393.6(DAG1):c.1847C>T (p.Pro616Leu) rs200334256 0.00002
NM_004393.6(DAG1):c.193G>A (p.Val65Ile) rs757379579 0.00002
NM_004393.6(DAG1):c.1965C>T (p.Ile655=) rs763343344 0.00002
NM_004393.6(DAG1):c.2035C>T (p.Arg679Cys) rs778608269 0.00002
NM_004393.6(DAG1):c.2083G>A (p.Ala695Thr) rs764107385 0.00002
NM_004393.6(DAG1):c.2116A>G (p.Thr706Ala) rs138386617 0.00002
NM_004393.6(DAG1):c.2193G>A (p.Ala731=) rs1258744347 0.00002
NM_004393.6(DAG1):c.2196G>A (p.Pro732=) rs773172058 0.00002
NM_004393.6(DAG1):c.2313C>T (p.Ala771=) rs764289801 0.00002
NM_004393.6(DAG1):c.2431C>T (p.Pro811Ser) rs368597067 0.00002
NM_004393.6(DAG1):c.2479C>T (p.Pro827Ser) rs141562264 0.00002
NM_004393.6(DAG1):c.2648T>C (p.Met883Thr) rs962242031 0.00002
NM_004393.6(DAG1):c.423C>T (p.Asn141=) rs78718082 0.00002
NM_004393.6(DAG1):c.424G>A (p.Gly142Arg) rs749962207 0.00002
NM_004393.6(DAG1):c.687G>A (p.Pro229=) rs975103246 0.00002
NM_004393.6(DAG1):c.695A>G (p.Asn232Ser) rs779274447 0.00002
NM_004393.6(DAG1):c.712A>G (p.Met238Val) rs148238809 0.00002
NM_004393.6(DAG1):c.902A>G (p.Asn301Ser) rs745559790 0.00002
NM_004393.6(DAG1):c.910C>T (p.Pro304Ser) rs147149991 0.00002
NM_004393.6(DAG1):c.93G>T (p.Trp31Cys) rs146339759 0.00002
NM_002291.3(LAMB1):c.4188G>C (p.Met1396Ile) rs754305761 0.00001
NM_004393.6(DAG1):c.1014C>T (p.Ile338=) rs773685771 0.00001
NM_004393.6(DAG1):c.1015G>A (p.Val339Met) rs763537489 0.00001
NM_004393.6(DAG1):c.1067C>T (p.Pro356Leu) rs757225645 0.00001
NM_004393.6(DAG1):c.1088C>T (p.Pro363Leu) rs2051348754 0.00001
NM_004393.6(DAG1):c.1100C>T (p.Thr367Met) rs746712913 0.00001
NM_004393.6(DAG1):c.1130T>C (p.Ile377Thr) rs772614314 0.00001
NM_004393.6(DAG1):c.1182C>T (p.Gly394=) rs758186665 0.00001
NM_004393.6(DAG1):c.1193C>G (p.Pro398Arg) rs751173028 0.00001
NM_004393.6(DAG1):c.1206C>T (p.Arg402=) rs886043253 0.00001
NM_004393.6(DAG1):c.1230T>C (p.Tyr410=) rs374625327 0.00001
NM_004393.6(DAG1):c.1315A>G (p.Thr439Ala) rs747370227 0.00001
NM_004393.6(DAG1):c.1320C>T (p.Asp440=) rs377309865 0.00001
NM_004393.6(DAG1):c.1321T>C (p.Ser441Pro) rs899605177 0.00001
NM_004393.6(DAG1):c.1356A>G (p.Lys452=) rs201720631 0.00001
NM_004393.6(DAG1):c.1358C>T (p.Pro453Leu) rs888121881 0.00001
NM_004393.6(DAG1):c.1379C>T (p.Pro460Leu) rs2051359862 0.00001
NM_004393.6(DAG1):c.1382G>A (p.Arg461Gln) rs755343255 0.00001
NM_004393.6(DAG1):c.1401C>T (p.Ser467=) rs1222765845 0.00001
NM_004393.6(DAG1):c.1436G>A (p.Arg479His) rs369458042 0.00001
NM_004393.6(DAG1):c.1441C>T (p.Arg481Cys) rs763653277 0.00001
NM_004393.6(DAG1):c.1445C>T (p.Thr482Ile) rs753581815 0.00001
NM_004393.6(DAG1):c.1466G>A (p.Arg489His) rs373379560 0.00001
NM_004393.6(DAG1):c.1476A>C (p.Glu492Asp) rs1251608960 0.00001
NM_004393.6(DAG1):c.148A>G (p.Met50Val) rs758104540 0.00001
NM_004393.6(DAG1):c.1514G>A (p.Arg505Lys) rs1411304453 0.00001
NM_004393.6(DAG1):c.1543G>A (p.Glu515Lys) rs142703906 0.00001
NM_004393.6(DAG1):c.1621C>T (p.Arg541Trp) rs944959231 0.00001
NM_004393.6(DAG1):c.1622G>A (p.Arg541Gln) rs1425201998 0.00001
NM_004393.6(DAG1):c.1674C>T (p.Ser558=) rs768293578 0.00001
NM_004393.6(DAG1):c.1747G>A (p.Gly583Arg) rs781334046 0.00001
NM_004393.6(DAG1):c.174C>T (p.His58=) rs760114682 0.00001
NM_004393.6(DAG1):c.1751G>T (p.Gly584Val) rs547711379 0.00001
NM_004393.6(DAG1):c.1752C>A (p.Gly584=) rs769750924 0.00001
NM_004393.6(DAG1):c.1756T>C (p.Ser586Pro) rs772951856 0.00001
NM_004393.6(DAG1):c.1774G>A (p.Glu592Lys) rs759029561 0.00001
NM_004393.6(DAG1):c.1785C>T (p.Val595=) rs762148188 0.00001
NM_004393.6(DAG1):c.1792C>T (p.Arg598Cys) rs750567574 0.00001
NM_004393.6(DAG1):c.1793G>A (p.Arg598His) rs201268364 0.00001
NM_004393.6(DAG1):c.1848G>A (p.Pro616=) rs762334457 0.00001
NM_004393.6(DAG1):c.1875G>A (p.Lys625=) rs886042920 0.00001
NM_004393.6(DAG1):c.1892A>G (p.Lys631Arg) rs767737971 0.00001
NM_004393.6(DAG1):c.1905C>T (p.Phe635=) rs577609846 0.00001
NM_004393.6(DAG1):c.1919G>A (p.Arg640Gln) rs753665385 0.00001
NM_004393.6(DAG1):c.1955G>A (p.Arg652Gln) rs368810294 0.00001
NM_004393.6(DAG1):c.1956G>C (p.Arg652=) rs1413224403 0.00001
NM_004393.6(DAG1):c.1962C>T (p.Ser654=) rs373937981 0.00001
NM_004393.6(DAG1):c.2044G>A (p.Ala682Thr) rs561289962 0.00001
NM_004393.6(DAG1):c.2140C>T (p.Arg714Trp) rs751260925 0.00001
NM_004393.6(DAG1):c.2174G>T (p.Arg725Met) rs775808647 0.00001
NM_004393.6(DAG1):c.2195C>T (p.Pro732Leu) rs148514520 0.00001
NM_004393.6(DAG1):c.21C>G (p.Leu7=) rs753007018 0.00001
NM_004393.6(DAG1):c.2200A>C (p.Thr734Pro) rs762713364 0.00001
NM_004393.6(DAG1):c.2201C>G (p.Thr734Arg) rs940802757 0.00001
NM_004393.6(DAG1):c.2240A>T (p.Asp747Val) rs755687939 0.00001
NM_004393.6(DAG1):c.2267C>T (p.Pro756Leu) rs1277865091 0.00001
NM_004393.6(DAG1):c.227G>A (p.Arg76His) rs950805280 0.00001
NM_004393.6(DAG1):c.229T>C (p.Ser77Pro) rs2050743041 0.00001
NM_004393.6(DAG1):c.2307C>G (p.Ile769Met) rs1319468242 0.00001
NM_004393.6(DAG1):c.2314A>G (p.Met772Val) rs1054272302 0.00001
NM_004393.6(DAG1):c.2322C>T (p.Cys774=) rs759442412 0.00001
NM_004393.6(DAG1):c.2336G>A (p.Arg779Gln) rs1283360967 0.00001
NM_004393.6(DAG1):c.2366C>T (p.Ala789Val) rs1426926145 0.00001
NM_004393.6(DAG1):c.2370C>G (p.Thr790=) rs200927931 0.00001
NM_004393.6(DAG1):c.2392A>G (p.Ile798Val) rs1290898131 0.00001
NM_004393.6(DAG1):c.23C>T (p.Ser8Leu) rs199501149 0.00001
NM_004393.6(DAG1):c.2415C>T (p.Asp805=) rs749427996 0.00001
NM_004393.6(DAG1):c.2510C>G (p.Pro837Arg) rs886043326 0.00001
NM_004393.6(DAG1):c.2511C>T (p.Pro837=) rs778665335 0.00001
NM_004393.6(DAG1):c.2552C>T (p.Thr851Met) rs977000024 0.00001
NM_004393.6(DAG1):c.2553G>A (p.Thr851=) rs746978083 0.00001
NM_004393.6(DAG1):c.2556C>A (p.Pro852=) rs140861171 0.00001
NM_004393.6(DAG1):c.2579C>T (p.Ala860Val) rs1192529932 0.00001
NM_004393.6(DAG1):c.2580G>A (p.Ala860=) rs886044253 0.00001
NM_004393.6(DAG1):c.2588A>G (p.Tyr863Cys) rs1436774690 0.00001
NM_004393.6(DAG1):c.2610A>C (p.Thr870=) rs779926178 0.00001
NM_004393.6(DAG1):c.2635C>T (p.Arg879Cys) rs147831615 0.00001
NM_004393.6(DAG1):c.2647A>G (p.Met883Val) rs754908618 0.00001
NM_004393.6(DAG1):c.2652C>A (p.Thr884=) rs762428862 0.00001
NM_004393.6(DAG1):c.286-17G>T rs112776980 0.00001
NM_004393.6(DAG1):c.286-4C>G rs759502746 0.00001
NM_004393.6(DAG1):c.403G>A (p.Ala135Thr) rs774419205 0.00001
NM_004393.6(DAG1):c.403G>T (p.Ala135Ser) rs774419205 0.00001
NM_004393.6(DAG1):c.471C>T (p.Tyr157=) rs148393291 0.00001
NM_004393.6(DAG1):c.483C>T (p.His161=) rs1261901336 0.00001
NM_004393.6(DAG1):c.496T>G (p.Ser166Ala) rs1421891404 0.00001
NM_004393.6(DAG1):c.497C>T (p.Ser166Leu) rs556413209 0.00001
NM_004393.6(DAG1):c.498G>A (p.Ser166=) rs794727500 0.00001
NM_004393.6(DAG1):c.576G>A (p.Thr192=) rs746894568 0.00001
NM_004393.6(DAG1):c.57C>T (p.Leu19=) rs768105958 0.00001
NM_004393.6(DAG1):c.591C>T (p.Ala197=) rs768487898 0.00001
NM_004393.6(DAG1):c.623T>C (p.Ile208Thr) rs772976299 0.00001
NM_004393.6(DAG1):c.643C>T (p.Arg215Trp) rs562046526 0.00001
NM_004393.6(DAG1):c.644G>A (p.Arg215Gln) rs144753260 0.00001
NM_004393.6(DAG1):c.659T>C (p.Val220Ala) rs998718075 0.00001
NM_004393.6(DAG1):c.717G>A (p.Ser239=) rs780120566 0.00001
NM_004393.6(DAG1):c.740A>G (p.Asn247Ser) rs1320232858 0.00001
NM_004393.6(DAG1):c.804G>A (p.Gln268=) rs201713621 0.00001
NM_004393.6(DAG1):c.80C>G (p.Ala27Gly) rs752128921 0.00001
NM_004393.6(DAG1):c.820A>G (p.Ile274Val) rs1281997226 0.00001
NM_004393.6(DAG1):c.852C>T (p.Gly284=) rs377173064 0.00001
NM_004393.6(DAG1):c.888T>C (p.Gly296=) rs777917276 0.00001
NM_004393.6(DAG1):c.932G>A (p.Arg311Gln) rs752813826 0.00001
NM_004393.6(DAG1):c.967G>T (p.Ala323Ser) rs767067590 0.00001
NM_004393.6(DAG1):c.999G>A (p.Glu333=) rs2051345251 0.00001
GRCh38/hg38 7q31.1(chr7:107951205-107952243)x0
NC_000003.11:g.(?_49547968)_(49548272_?)dup
NC_000003.11:g.(?_49568220)_(49570642_?)dup
NM_002291.3(LAMB1):c.1070T>C (p.Val357Ala)
NM_002291.3(LAMB1):c.109C>T (p.Pro37Ser)
NM_002291.3(LAMB1):c.1189C>T (p.Arg397Ter) rs768323491
NM_002291.3(LAMB1):c.1442G>T (p.Cys481Phe) rs879255267
NM_002291.3(LAMB1):c.1526del (p.Pro509fs)
NM_002291.3(LAMB1):c.1637G>A (p.Gly546Asp)
NM_002291.3(LAMB1):c.1752_1756dup (p.Ala586fs) rs2150429989
NM_002291.3(LAMB1):c.1925G>A (p.Arg642Gln)
NM_002291.3(LAMB1):c.1974_1975dup (p.Pro659fs) rs2150428777
NM_002291.3(LAMB1):c.2092T>A (p.Tyr698Asn) rs1307088615
NM_002291.3(LAMB1):c.2109+1G>T rs387907344
NM_002291.3(LAMB1):c.234A>G (p.Ile78Met)
NM_002291.3(LAMB1):c.2931del (p.Gln977fs) rs879255266
NM_002291.3(LAMB1):c.2960C>T (p.Pro987Leu)
NM_002291.3(LAMB1):c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT (p.Lys1049_Gln1053delinsProValLeuValSerSerTer) rs387907343
NM_002291.3(LAMB1):c.3422C>T (p.Thr1141Met)
NM_002291.3(LAMB1):c.3814T>A (p.Ser1272Thr)
NM_002291.3(LAMB1):c.4188+1G>C
NM_002291.3(LAMB1):c.4290T>G (p.Cys1430Trp)
NM_002291.3(LAMB1):c.4363_4376del (p.Leu1455fs) rs2116327253
NM_002291.3(LAMB1):c.4519A>T (p.Ile1507Phe)
NM_002291.3(LAMB1):c.452A>G (p.Glu151Gly) rs745500256
NM_002291.3(LAMB1):c.4540G>A (p.Asp1514Asn)
NM_002291.3(LAMB1):c.4562T>G (p.Ile1521Ser) rs199646967
NM_002291.3(LAMB1):c.4999G>A (p.Gly1667Arg)
NM_002291.3(LAMB1):c.785T>G (p.Val262Gly)
NM_004393.6(DAG1):c.1005del (p.Ser336fs) rs2107932056
NM_004393.6(DAG1):c.1007C>T (p.Ser336Phe)
NM_004393.6(DAG1):c.1026C>T (p.Pro342=) rs1553652858
NM_004393.6(DAG1):c.1028C>T (p.Thr343Ile)
NM_004393.6(DAG1):c.1032T>A (p.Ser344=)
NM_004393.6(DAG1):c.1040T>C (p.Ile347Thr)
NM_004393.6(DAG1):c.1074C>A (p.Val358=) rs2051347866
NM_004393.6(DAG1):c.1075A>G (p.Arg359Gly) rs2051347944
NM_004393.6(DAG1):c.1081C>T (p.Pro361Ser) rs1248397261
NM_004393.6(DAG1):c.1083T>C (p.Pro361=)
NM_004393.6(DAG1):c.1087C>G (p.Pro363Ala)
NM_004393.6(DAG1):c.108A>C (p.Ser36=) rs1289056506
NM_004393.6(DAG1):c.1097C>T (p.Pro366Leu)
NM_004393.6(DAG1):c.1105A>G (p.Thr369Ala) rs1553652891
NM_004393.6(DAG1):c.1106C>G (p.Thr369Ser) rs780709869
NM_004393.6(DAG1):c.1122C>T (p.Gly374=) rs139993618
NM_004393.6(DAG1):c.1150C>T (p.Pro384Ser) rs2107934008
NM_004393.6(DAG1):c.1165C>T (p.Arg389Trp)
NM_004393.6(DAG1):c.1185C>T (p.Thr395=)
NM_004393.6(DAG1):c.1205G>A (p.Arg402His) rs537829489
NM_004393.6(DAG1):c.1211C>T (p.Thr404Met)
NM_004393.6(DAG1):c.1218C>A (p.Thr406=) rs1290739352
NM_004393.6(DAG1):c.1223C>T (p.Pro408Leu) rs2051353290
NM_004393.6(DAG1):c.1224T>C (p.Pro408=)
NM_004393.6(DAG1):c.1226G>T (p.Gly409Val)
NM_004393.6(DAG1):c.1236G>A (p.Glu412=) rs760924685
NM_004393.6(DAG1):c.1236G>T (p.Glu412Asp) rs760924685
NM_004393.6(DAG1):c.123C>G (p.Asp41Glu) rs2050738548
NM_004393.6(DAG1):c.1251T>C (p.Ala417=) rs2107935604
NM_004393.6(DAG1):c.1255C>T (p.Pro419Ser) rs1263472474
NM_004393.6(DAG1):c.126G>C (p.Trp42Cys) rs2050738653
NM_004393.6(DAG1):c.1300C>T (p.Pro434Ser) rs2051356312
NM_004393.6(DAG1):c.1317T>C (p.Thr439=)
NM_004393.6(DAG1):c.1323C>T (p.Ser441=) rs2051357458
NM_004393.6(DAG1):c.1323CAC[3] (p.Thr446del) rs778752288
NM_004393.6(DAG1):c.1324A>T (p.Thr442Ser)
NM_004393.6(DAG1):c.1326C>T (p.Thr442=)
NM_004393.6(DAG1):c.1329C>A (p.Thr443=)
NM_004393.6(DAG1):c.1329C>T (p.Thr443=)
NM_004393.6(DAG1):c.1331C>T (p.Thr444Ile)
NM_004393.6(DAG1):c.1334C>T (p.Thr445Met)
NM_004393.6(DAG1):c.1345C>T (p.Pro449Ser)
NM_004393.6(DAG1):c.1360del (p.Arg454fs) rs2051359062
NM_004393.6(DAG1):c.1362G>A (p.Arg454=)
NM_004393.6(DAG1):c.1370G>T (p.Arg457Leu)
NM_004393.6(DAG1):c.1381C>A (p.Arg461=)
NM_004393.6(DAG1):c.1381C>T (p.Arg461Trp)
NM_004393.6(DAG1):c.1389C>T (p.Thr463=)
NM_004393.6(DAG1):c.1392C>G (p.Thr464=)
NM_004393.6(DAG1):c.1399T>C (p.Ser467Pro) rs773540166
NM_004393.6(DAG1):c.1402A>G (p.Ile468Val)
NM_004393.6(DAG1):c.1410A>T (p.Arg470Ser)
NM_004393.6(DAG1):c.1423_1424insTT (p.Ser475fs)
NM_004393.6(DAG1):c.1444A>G (p.Thr482Ala)
NM_004393.6(DAG1):c.1452C>A (p.Thr484=) rs2051362724
NM_004393.6(DAG1):c.1453_1454insC (p.Ser485fs) rs2107938946
NM_004393.6(DAG1):c.1455T>A (p.Ser485Arg)
NM_004393.6(DAG1):c.1462C>G (p.Pro488Ala) rs755443084
NM_004393.6(DAG1):c.1465del (p.Arg489fs) rs2107939163
NM_004393.6(DAG1):c.1479C>T (p.Pro493=)
NM_004393.6(DAG1):c.147C>T (p.Ser49=)
NM_004393.6(DAG1):c.1487G>T (p.Arg496Leu) rs199519832
NM_004393.6(DAG1):c.1489C>G (p.Pro497Ala) rs376508721
NM_004393.6(DAG1):c.1492_1494del (p.Glu498del) rs1553653093
NM_004393.6(DAG1):c.14T>G (p.Val5Gly)
NM_004393.6(DAG1):c.1508T>C (p.Ile503Thr)
NM_004393.6(DAG1):c.1532G>A (p.Gly511Asp) rs775568320
NM_004393.6(DAG1):c.153C>G (p.His51Gln) rs1329844909
NM_004393.6(DAG1):c.1545G>A (p.Glu515=)
NM_004393.6(DAG1):c.1557G>A (p.Pro519=) rs201897321
NM_004393.6(DAG1):c.1569C>G (p.Phe523Leu) rs1240708570
NM_004393.6(DAG1):c.1569C>T (p.Phe523=)
NM_004393.6(DAG1):c.1596C>T (p.Asp532=)
NM_004393.6(DAG1):c.1599G>A (p.Lys533=)
NM_004393.6(DAG1):c.15G>A (p.Val5=) rs1405959055
NM_004393.6(DAG1):c.160C>G (p.Leu54Val)
NM_004393.6(DAG1):c.1610C>T (p.Thr537Ile)
NM_004393.6(DAG1):c.1618C>G (p.Leu540Val)
NM_004393.6(DAG1):c.162C>G (p.Leu54=) rs371638777
NM_004393.6(DAG1):c.1639G>C (p.Gly547Arg)
NM_004393.6(DAG1):c.1656A>G (p.Val552=) rs2051369610
NM_004393.6(DAG1):c.1662C>T (p.Phe554=) rs2051369866
NM_004393.6(DAG1):c.1673G>T (p.Ser558Ile)
NM_004393.6(DAG1):c.1677G>A (p.Gln559=)
NM_004393.6(DAG1):c.1681A>G (p.Met561Val)
NM_004393.6(DAG1):c.1688G>A (p.Gly563Asp) rs2107942332
NM_004393.6(DAG1):c.1690C>T (p.Leu564Phe)
NM_004393.6(DAG1):c.1705C>T (p.His569Tyr) rs1559579950
NM_004393.6(DAG1):c.1715A>C (p.Lys572Thr) rs374936878
NM_004393.6(DAG1):c.1729A>G (p.Met577Val)
NM_004393.6(DAG1):c.173A>T (p.His58Leu) rs956626990
NM_004393.6(DAG1):c.1745A>G (p.Lys582Arg)
NM_004393.6(DAG1):c.1750_1751delinsT (p.Gly584fs) rs2051374109
NM_004393.6(DAG1):c.175G>A (p.Glu59Lys) rs767737417
NM_004393.6(DAG1):c.175G>T (p.Glu59Ter) rs767737417
NM_004393.6(DAG1):c.1783G>A (p.Val595Ile)
NM_004393.6(DAG1):c.1795C>T (p.Pro599Ser) rs2051376280
NM_004393.6(DAG1):c.1800A>T (p.Gln600His) rs755173858
NM_004393.6(DAG1):c.1801G>C (p.Gly601Arg)
NM_004393.6(DAG1):c.1804G>A (p.Asp602Asn) rs1447621250
NM_004393.6(DAG1):c.1812T>A (p.Ala604=) rs2107944571
NM_004393.6(DAG1):c.1813C>G (p.Pro605Ala) rs866228869
NM_004393.6(DAG1):c.1815T>C (p.Pro605=)
NM_004393.6(DAG1):c.1817C>T (p.Ala606Val)
NM_004393.6(DAG1):c.181G>A (p.Val61Ile) rs2107648206
NM_004393.6(DAG1):c.1824C>T (p.Phe608=)
NM_004393.6(DAG1):c.1826A>G (p.Lys609Arg) rs200798800
NM_004393.6(DAG1):c.1833G>A (p.Lys611=)
NM_004393.6(DAG1):c.1837G>T (p.Val613Leu)
NM_004393.6(DAG1):c.1839G>T (p.Val613=) rs1247864796
NM_004393.6(DAG1):c.1842T>A (p.Gly614=)
NM_004393.6(DAG1):c.1874A>G (p.Lys625Arg)
NM_004393.6(DAG1):c.1874AGA[1] (p.Lys626del) rs745350022
NM_004393.6(DAG1):c.1882G>T (p.Ala628Ser)
NM_004393.6(DAG1):c.1883_1887delinsACTTT (p.Ala628_Leu629delinsAspPhe) rs1559580384
NM_004393.6(DAG1):c.1895A>C (p.Lys632Thr)
NM_004393.6(DAG1):c.1908C>T (p.Ala636=)
NM_004393.6(DAG1):c.1911del (p.Phe637fs) rs2107946182
NM_004393.6(DAG1):c.1915G>C (p.Asp639His) rs2107946219
NM_004393.6(DAG1):c.1918C>G (p.Arg640Gly) rs1404065812
NM_004393.6(DAG1):c.1918C>T (p.Arg640Ter)
NM_004393.6(DAG1):c.1925G>A (p.Cys642Tyr) rs1559580460
NM_004393.6(DAG1):c.1955G>T (p.Arg652Leu) rs368810294
NM_004393.6(DAG1):c.1969G>C (p.Val657Leu) rs2107947164
NM_004393.6(DAG1):c.1977G>A (p.Trp659Ter) rs1553653437
NM_004393.6(DAG1):c.1981A>G (p.Asn661Asp)
NM_004393.6(DAG1):c.1982_1983delinsTT (p.Asn661Ile) rs2051384851
NM_004393.6(DAG1):c.1992G>A (p.Leu664=) rs2107947638
NM_004393.6(DAG1):c.1999G>A (p.Glu667Lys)
NM_004393.6(DAG1):c.2001G>T (p.Glu667Asp) rs767648246
NM_004393.6(DAG1):c.2006G>T (p.Cys669Phe) rs797045023
NM_004393.6(DAG1):c.2010C>T (p.Pro670=)
NM_004393.6(DAG1):c.2011A>T (p.Lys671Ter) rs2107948146
NM_004393.6(DAG1):c.2018A>C (p.Gln673Pro) rs1433049354
NM_004393.6(DAG1):c.2018A>G (p.Gln673Arg)
NM_004393.6(DAG1):c.2031G>T (p.Leu677=)
NM_004393.6(DAG1):c.2043C>T (p.Ile681=) rs543326525
NM_004393.6(DAG1):c.2051A>G (p.Asp684Gly) rs2051388402
NM_004393.6(DAG1):c.2068C>T (p.Pro690Ser) rs2107949142
NM_004393.6(DAG1):c.2072C>T (p.Ala691Val)
NM_004393.6(DAG1):c.2081A>G (p.Asn694Ser)
NM_004393.6(DAG1):c.2100T>G (p.Phe700Leu) rs141697036
NM_004393.6(DAG1):c.210C>T (p.Gly70=) rs2107648464
NM_004393.6(DAG1):c.2116A>C (p.Thr706Pro) rs138386617
NM_004393.6(DAG1):c.2124G>A (p.Thr708=) rs140204495
NM_004393.6(DAG1):c.2124G>C (p.Thr708=) rs140204495
NM_004393.6(DAG1):c.2124_2127del (p.Gly709fs)
NM_004393.6(DAG1):c.212C>A (p.Thr71Lys) rs142572135
NM_004393.6(DAG1):c.2141G>A (p.Arg714Gln) rs201488118
NM_004393.6(DAG1):c.2141G>T (p.Arg714Leu) rs201488118
NM_004393.6(DAG1):c.2155A>G (p.Ile719Val)
NM_004393.6(DAG1):c.2161G>A (p.Val721Met)
NM_004393.6(DAG1):c.216T>C (p.Ala72=)
NM_004393.6(DAG1):c.2170C>A (p.Pro724Thr)
NM_004393.6(DAG1):c.2170C>T (p.Pro724Ser)
NM_004393.6(DAG1):c.2181G>T (p.Val727=)
NM_004393.6(DAG1):c.2184C>T (p.Pro728=) rs1553653579
NM_004393.6(DAG1):c.2194C>A (p.Pro732Thr) rs1406481422
NM_004393.6(DAG1):c.2200A>G (p.Thr734Ala)
NM_004393.6(DAG1):c.2201C>T (p.Thr734Ile)
NM_004393.6(DAG1):c.2205A>C (p.Glu735Asp)
NM_004393.6(DAG1):c.2206G>A (p.Val736Met)
NM_004393.6(DAG1):c.2207T>G (p.Val736Gly)
NM_004393.6(DAG1):c.2215_2216del (p.Arg739fs) rs2107952051
NM_004393.6(DAG1):c.2221C>T (p.Pro741Ser)
NM_004393.6(DAG1):c.2245G>A (p.Val749Ile) rs1559581311
NM_004393.6(DAG1):c.2251C>T (p.Leu751=) rs1553653673
NM_004393.6(DAG1):c.2268G>A (p.Pro756=)
NM_004393.6(DAG1):c.2280C>T (p.Val760=)
NM_004393.6(DAG1):c.2293C>A (p.Leu765Ile) rs905804433
NM_004393.6(DAG1):c.2294T>C (p.Leu765Pro) rs2107953423
NM_004393.6(DAG1):c.2295C>T (p.Leu765=)
NM_004393.6(DAG1):c.2303G>T (p.Gly768Val) rs1553653701
NM_004393.6(DAG1):c.2315dup (p.Met772fs) rs2107953983
NM_004393.6(DAG1):c.2327G>A (p.Arg776His) rs753991804
NM_004393.6(DAG1):c.2330A>G (p.Lys777Arg) rs2107954269
NM_004393.6(DAG1):c.2342G>A (p.Gly781Asp) rs1223724355
NM_004393.6(DAG1):c.2352C>T (p.Thr784=) rs553722437
NM_004393.6(DAG1):c.235C>T (p.Arg79Ter) rs1334656238
NM_004393.6(DAG1):c.237A>G (p.Arg79=)
NM_004393.6(DAG1):c.2382G>A (p.Lys794=) rs2107954873
NM_004393.6(DAG1):c.2388G>A (p.Val796=) rs542910395
NM_004393.6(DAG1):c.2420C>T (p.Ser807Phe)
NM_004393.6(DAG1):c.2429C>A (p.Pro810Gln)
NM_004393.6(DAG1):c.2433C>T (p.Pro811=)
NM_004393.6(DAG1):c.2439C>T (p.Ser813=)
NM_004393.6(DAG1):c.2451C>T (p.Leu817=) rs886042761
NM_004393.6(DAG1):c.2475C>T (p.Pro825=)
NM_004393.6(DAG1):c.2478A>G (p.Leu826=)
NM_004393.6(DAG1):c.2480C>G (p.Pro827Arg)
NM_004393.6(DAG1):c.2481C>G (p.Pro827=) rs1328445862
NM_004393.6(DAG1):c.2482C>A (p.Pro828Thr) rs755251035
NM_004393.6(DAG1):c.2493C>T (p.Tyr831=) rs1334041253
NM_004393.6(DAG1):c.24G>A (p.Ser8=) rs1229832209
NM_004393.6(DAG1):c.2503A>T (p.Ser835Cys)
NM_004393.6(DAG1):c.2503_2504del (p.Ser835fs) rs2107957043
NM_004393.6(DAG1):c.2512G>A (p.Glu838Lys) rs745846165
NM_004393.6(DAG1):c.2546A>T (p.Glu849Val) rs865854417
NM_004393.6(DAG1):c.2555C>T (p.Pro852Leu) rs764827670
NM_004393.6(DAG1):c.2561G>A (p.Arg854Gln) rs199933395
NM_004393.6(DAG1):c.2598A>G (p.Pro866=)
NM_004393.6(DAG1):c.2612C>T (p.Ala871Val)
NM_004393.6(DAG1):c.2632T>C (p.Ser878Pro) rs776376235
NM_004393.6(DAG1):c.2645A>G (p.Asn882Ser) rs2107959641
NM_004393.6(DAG1):c.264C>T (p.Ala88=) rs765191278
NM_004393.6(DAG1):c.2661G>T (p.Arg887=) rs1575414764
NM_004393.6(DAG1):c.2675A>G (p.Tyr892Cys) rs1394689956
NM_004393.6(DAG1):c.2679C>T (p.Val893=)
NM_004393.6(DAG1):c.268A>G (p.Ser90Gly) rs140454570
NM_004393.6(DAG1):c.271G>A (p.Gly91Arg) rs1193999215
NM_004393.6(DAG1):c.272G>A (p.Gly91Glu) rs766324183
NM_004393.6(DAG1):c.285+1G>A rs2050744878
NM_004393.6(DAG1):c.285+7C>T
NM_004393.6(DAG1):c.286-1_287del
NM_004393.6(DAG1):c.286-4del
NM_004393.6(DAG1):c.286-9C>T rs2107922008
NM_004393.6(DAG1):c.294G>T (p.Ala98=)
NM_004393.6(DAG1):c.317C>T (p.Ser106Phe) rs969302268
NM_004393.6(DAG1):c.32T>C (p.Leu11Pro)
NM_004393.6(DAG1):c.330G>A (p.Trp110Ter) rs2051320206
NM_004393.6(DAG1):c.333C>T (p.Asp111=) rs1221719616
NM_004393.6(DAG1):c.372T>C (p.Thr124=) rs555051245
NM_004393.6(DAG1):c.384G>A (p.Val128=) rs143829263
NM_004393.6(DAG1):c.384G>T (p.Val128=) rs143829263
NM_004393.6(DAG1):c.385C>T (p.His129Tyr) rs763108184
NM_004393.6(DAG1):c.396A>C (p.Ser132=) rs1575410151
NM_004393.6(DAG1):c.39C>T (p.Leu13=) rs62261246
NM_004393.6(DAG1):c.409C>T (p.Arg137Trp) rs374440411
NM_004393.6(DAG1):c.41C>A (p.Ser14Ter) rs2131107
NM_004393.6(DAG1):c.420C>T (p.Ala140=)
NM_004393.6(DAG1):c.42G>C (p.Ser14=) rs770996993
NM_004393.6(DAG1):c.435C>T (p.Ile145=)
NM_004393.6(DAG1):c.43G>T (p.Gly15Trp) rs2107646938
NM_004393.6(DAG1):c.440del (p.Gln147fs) rs1553652503
NM_004393.6(DAG1):c.442A>T (p.Thr148Ser) rs1297914937
NM_004393.6(DAG1):c.454_467del (p.Phe152fs) rs1553652513
NM_004393.6(DAG1):c.459C>T (p.Ser153=) rs2107924634
NM_004393.6(DAG1):c.462C>G (p.Ile154Met)
NM_004393.6(DAG1):c.462C>T (p.Ile154=)
NM_004393.6(DAG1):c.463G>A (p.Glu155Lys)
NM_004393.6(DAG1):c.473C>G (p.Pro158Arg) rs368359780
NM_004393.6(DAG1):c.473C>T (p.Pro158Leu) rs368359780
NM_004393.6(DAG1):c.479_482dup (p.His161fs)
NM_004393.6(DAG1):c.481C>G (p.His161Asp) rs2051326372
NM_004393.6(DAG1):c.510C>T (p.Ala170=) rs147153370
NM_004393.6(DAG1):c.524G>A (p.Gly175Asp) rs757948629
NM_004393.6(DAG1):c.524G>T (p.Gly175Val)
NM_004393.6(DAG1):c.534A>G (p.Val178=)
NM_004393.6(DAG1):c.551C>T (p.Ala184Val) rs1431924829
NM_004393.6(DAG1):c.552G>A (p.Ala184=) rs749602970
NM_004393.6(DAG1):c.552G>C (p.Ala184=) rs749602970
NM_004393.6(DAG1):c.55C>T (p.Leu19Phe) rs2107647080
NM_004393.6(DAG1):c.575C>T (p.Thr192Met) rs193922955
NM_004393.6(DAG1):c.587A>T (p.Asp196Val) rs2107926325
NM_004393.6(DAG1):c.59T>A (p.Leu20His)
NM_004393.6(DAG1):c.5G>A (p.Arg2Lys)
NM_004393.6(DAG1):c.5G>C (p.Arg2Thr)
NM_004393.6(DAG1):c.608C>T (p.Thr203Ile) rs2107926551
NM_004393.6(DAG1):c.624T>C (p.Ile208=) rs2107926759
NM_004393.6(DAG1):c.636C>T (p.His212=) rs765923041
NM_004393.6(DAG1):c.63G>T (p.Leu21=) rs776146096
NM_004393.6(DAG1):c.645G>A (p.Arg215=) rs2107927047
NM_004393.6(DAG1):c.658G>C (p.Val220Leu) rs2107927146
NM_004393.6(DAG1):c.686C>T (p.Pro229Leu)
NM_004393.6(DAG1):c.691G>T (p.Val231Leu) rs2051333513
NM_004393.6(DAG1):c.716C>T (p.Ser239Leu)
NM_004393.6(DAG1):c.727G>A (p.Ala243Thr) rs2051334627
NM_004393.6(DAG1):c.734C>T (p.Pro245Leu) rs780960166
NM_004393.6(DAG1):c.743del (p.Ala248fs) rs869320680
NM_004393.6(DAG1):c.751del (p.Val251fs) rs1575410881
NM_004393.6(DAG1):c.751dup (p.Val251fs) rs1575410881
NM_004393.6(DAG1):c.777C>T (p.Ser259=)
NM_004393.6(DAG1):c.781A>G (p.Lys261Glu) rs2107928548
NM_004393.6(DAG1):c.786G>A (p.Leu262=) rs2051336967
NM_004393.6(DAG1):c.810T>C (p.Ser270=)
NM_004393.6(DAG1):c.815C>G (p.Pro272Arg) rs371509534
NM_004393.6(DAG1):c.827G>T (p.Gly276Val)
NM_004393.6(DAG1):c.838C>A (p.Pro280Thr) rs908394465
NM_004393.6(DAG1):c.838C>T (p.Pro280Ser) rs908394465
NM_004393.6(DAG1):c.843C>G (p.Ala281=)
NM_004393.6(DAG1):c.843C>T (p.Ala281=)
NM_004393.6(DAG1):c.845G>T (p.Arg282Met)
NM_004393.6(DAG1):c.852C>G (p.Gly284=)
NM_004393.6(DAG1):c.854C>T (p.Ala285Val) rs1235865427
NM_004393.6(DAG1):c.855A>G (p.Ala285=) rs2107929680
NM_004393.6(DAG1):c.885G>A (p.Val295=) rs1463890255
NM_004393.6(DAG1):c.889T>A (p.Trp297Arg)
NM_004393.6(DAG1):c.897C>A (p.Ile299=) rs150365056
NM_004393.6(DAG1):c.909G>C (p.Lys303Asn) rs938467092
NM_004393.6(DAG1):c.914C>T (p.Pro305Leu)
NM_004393.6(DAG1):c.928G>A (p.Val310Ile) rs755258174
NM_004393.6(DAG1):c.939del (p.Ile314fs) rs2107931013
NM_004393.6(DAG1):c.942C>T (p.Ile314=)
NM_004393.6(DAG1):c.944A>G (p.His315Arg)
NM_004393.6(DAG1):c.954_959del (p.317TP[1]) rs2107931254
NM_004393.6(DAG1):c.966T>G (p.Thr322=)
NM_004393.6(DAG1):c.969C>G (p.Ala323=)
NM_004393.6(DAG1):c.971T>C (p.Ile324Thr)
NM_004393.6(DAG1):c.984C>A (p.Thr328=)
NM_004393.6(DAG1):c.98G>T (p.Ser33Ile)
NM_004393.6(DAG1):c.993C>T (p.Ile331=)

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