ClinVar Miner

List of variants in gene SLC4A1 studied for familial hemolytic anemia

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 303
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HGVS dbSNP gnomAD frequency
NM_000342.4(SLC4A1):c.*1568G>A rs5033 0.63671
NM_000342.4(SLC4A1):c.*333C>A rs2072081 0.36187
NM_000342.4(SLC4A1):c.*349G>A rs1465204 0.05293
NM_000342.4(SLC4A1):c.1323G>A (p.Leu441=) rs5017 0.05230
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036 0.05002
NM_000342.4(SLC4A1):c.*270G>A rs5027 0.04383
NM_000342.4(SLC4A1):c.1249C>T (p.Leu417=) rs5015 0.03061
NM_000342.4(SLC4A1):c.2584G>A (p.Val862Ile) rs5026 0.02980
NM_000342.4(SLC4A1):c.113A>C (p.Asp38Ala) rs5035 0.02695
NM_000342.4(SLC4A1):c.*1721G>A rs62078947 0.02193
NM_000342.4(SLC4A1):c.*897G>A rs5030 0.02004
NM_000342.4(SLC4A1):c.2688T>C (p.Asp896=) rs45497993 0.01896
NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=) rs45519733 0.01857
NM_000342.4(SLC4A1):c.924G>A (p.Leu308=) rs5013 0.01720
NM_000342.4(SLC4A1):c.*408C>T rs45555735 0.01626
NM_000342.4(SLC4A1):c.1770G>A (p.Lys590=) rs35807245 0.01536
NM_000342.4(SLC4A1):c.16-14G>A rs145502796 0.01351
NM_000342.4(SLC4A1):c.1878T>C (p.Asp626=) rs5020 0.01332
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_000342.4(SLC4A1):c.2100C>T (p.Ser700=) rs5024 0.01001
NM_000342.4(SLC4A1):c.1239C>T (p.Tyr413=) rs5014 0.00887
NM_000342.4(SLC4A1):c.*335G>A rs13306777 0.00773
NM_000342.4(SLC4A1):c.1953C>T (p.His651=) rs5021 0.00529
NM_000342.4(SLC4A1):c.12G>A (p.Leu4=) rs115901854 0.00447
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) rs13306788 0.00342
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654 0.00294
NM_000342.4(SLC4A1):c.*1227A>C rs141425539 0.00288
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644 0.00284
NM_000342.4(SLC4A1):c.-60G>A rs75489266 0.00245
NM_000342.4(SLC4A1):c.1314G>A (p.Ser438=) rs13306781 0.00193
NM_000342.4(SLC4A1):c.*1792G>A rs143785442 0.00184
NM_000342.4(SLC4A1):c.-135G>A rs183529485 0.00173
NM_000342.4(SLC4A1):c.-30C>T rs148028272 0.00167
NM_000342.4(SLC4A1):c.2716G>C (p.Glu906Gln) rs199694087 0.00128
NM_000342.4(SLC4A1):c.*353G>C rs571581247 0.00093
NM_000342.4(SLC4A1):c.615T>C (p.Asp205=) rs5038 0.00070
NM_000342.4(SLC4A1):c.884G>A (p.Arg295His) rs140424071 0.00065
NM_000342.4(SLC4A1):c.2482-7C>T rs371728036 0.00063
NM_000342.4(SLC4A1):c.2340G>A (p.Leu780=) rs139912334 0.00056
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg) rs28931583 0.00054
NM_000342.4(SLC4A1):c.349+15C>G rs541501285 0.00054
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) rs121912759 0.00051
NM_000342.4(SLC4A1):c.*1237C>T rs774513767 0.00048
NM_000342.4(SLC4A1):c.297C>T (p.Leu99=) rs146541331 0.00046
NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met) rs145041032 0.00044
NM_000342.4(SLC4A1):c.1272C>T (p.Gly424=) rs148115666 0.00035
NM_000342.4(SLC4A1):c.*1676A>G rs745898810 0.00034
NM_000342.4(SLC4A1):c.*1933G>A rs565128885 0.00034
NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp) rs201265160 0.00031
NM_000342.4(SLC4A1):c.486-18C>T rs201023917 0.00031
NM_000342.4(SLC4A1):c.*947C>G rs368389948 0.00029
NM_000342.4(SLC4A1):c.1151G>A (p.Arg384His) rs13306776 0.00026
NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys) rs75731670 0.00024
NM_000342.4(SLC4A1):c.798T>C (p.Phe266=) rs193011645 0.00023
NM_000342.4(SLC4A1):c.277G>T (p.Ala93Ser) rs145054469 0.00017
NM_000342.4(SLC4A1):c.*544C>T rs910311843 0.00016
NM_000342.4(SLC4A1):c.-136C>T rs566359654 0.00016
NM_000342.4(SLC4A1):c.1671G>A (p.Val557=) rs147838240 0.00016
NM_000342.4(SLC4A1):c.*1273G>T rs769140134 0.00015
NM_000342.4(SLC4A1):c.1258G>A (p.Ala420Thr) rs142905862 0.00015
NM_000342.3(SLC4A1):c.268G>A (p.Glu90Lys) rs28929480 0.00013
NM_000342.4(SLC4A1):c.876+14G>A rs571092411 0.00013
NM_000342.4(SLC4A1):c.*1409T>C rs891382961 0.00009
NM_000342.4(SLC4A1):c.1759A>T (p.Met587Leu) rs201228206 0.00009
NM_000342.4(SLC4A1):c.2057C>T (p.Thr686Met) rs143131877 0.00009
NM_000342.4(SLC4A1):c.1800+12C>T rs556266412 0.00008
NM_000342.4(SLC4A1):c.523C>A (p.Pro175Thr) rs201611359 0.00007
NM_000342.4(SLC4A1):c.*1198A>T rs886052992 0.00006
NM_000342.4(SLC4A1):c.*1305G>A rs566138996 0.00006
NM_000342.4(SLC4A1):c.*1393A>T rs139308660 0.00006
NM_000342.4(SLC4A1):c.102G>A (p.Pro34=) rs55898602 0.00006
NM_000342.4(SLC4A1):c.2625G>A (p.Pro875=) rs202243808 0.00006
NM_000342.4(SLC4A1):c.2630T>C (p.Ile877Thr) rs765911147 0.00006
NM_000342.4(SLC4A1):c.454G>A (p.Glu152Lys) rs55840505 0.00006
NM_000342.4(SLC4A1):c.985G>A (p.Glu329Lys) rs141370158 0.00006
NM_000342.4(SLC4A1):c.*431T>C rs951207868 0.00005
NM_000342.4(SLC4A1):c.*977G>A rs886052993 0.00005
NM_000342.4(SLC4A1):c.2193C>T (p.Ser731=) rs754017629 0.00005
NM_000342.4(SLC4A1):c.706T>G (p.Phe236Val) rs141605301 0.00005
NM_000342.3(SLC4A1):c.388G>A (p.Gly130Arg) rs121912749 0.00004
NM_000342.4(SLC4A1):c.*135G>A rs566741511 0.00004
NM_000342.4(SLC4A1):c.*1596A>C rs886052990 0.00004
NM_000342.4(SLC4A1):c.*54A>G rs758901858 0.00004
NM_000342.4(SLC4A1):c.1160G>A (p.Arg387Gln) rs201280873 0.00004
NM_000342.4(SLC4A1):c.1800+17C>T rs370756072 0.00004
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) rs121912757 0.00004
NM_000342.4(SLC4A1):c.2208C>T (p.Asn736=) rs766674440 0.00004
NM_000342.4(SLC4A1):c.719C>T (p.Pro240Leu) rs764833865 0.00004
NM_000342.4(SLC4A1):c.1311G>A (p.Val437=) rs370089486 0.00003
NM_000342.4(SLC4A1):c.1431+15G>T rs886052999 0.00003
NM_000342.4(SLC4A1):c.2401A>C (p.Ser801Arg) rs775095594 0.00003
NM_000342.4(SLC4A1):c.538C>T (p.Arg180Cys) rs749020872 0.00003
NM_000342.4(SLC4A1):c.713A>T (p.Glu238Val) rs571740084 0.00003
NM_000342.4(SLC4A1):c.876+8A>G rs750432041 0.00003
NM_000342.4(SLC4A1):c.877-3dup rs747181893 0.00003
NM_000342.3(SLC4A1):c.-62G>A rs387906565 0.00002
NM_000342.4(SLC4A1):c.*1766C>T rs896817763 0.00002
NM_000342.4(SLC4A1):c.*351G>T rs138242019 0.00002
NM_000342.4(SLC4A1):c.2002G>A (p.Ala668Thr) rs368353943 0.00002
NM_000342.4(SLC4A1):c.202G>A (p.Glu68Lys) rs13306787 0.00002
NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp) rs121912748 0.00002
NM_000342.4(SLC4A1):c.2204C>T (p.Ala735Val) rs748087778 0.00002
NM_000342.4(SLC4A1):c.2547G>A (p.Val849=) rs753357599 0.00002
NM_000342.4(SLC4A1):c.2702G>A (p.Arg901Gln) rs189300762 0.00002
NM_000342.4(SLC4A1):c.464G>A (p.Arg155Gln) rs750879183 0.00002
NM_000342.4(SLC4A1):c.486-10C>T rs376999476 0.00002
NM_000342.4(SLC4A1):c.672A>G (p.Ser224=) rs772317162 0.00002
NM_000342.4(SLC4A1):c.697C>T (p.Arg233Cys) rs779054292 0.00002
NM_000342.4(SLC4A1):c.826A>G (p.Ile276Val) rs746406399 0.00002
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) rs28931584 0.00001
NM_000342.3(SLC4A1):c.2312G>A (p.Gly771Asp) rs121912741 0.00001
NM_000342.4(SLC4A1):c.*1832G>A rs886052988 0.00001
NM_000342.4(SLC4A1):c.*356G>C rs1046413791 0.00001
NM_000342.4(SLC4A1):c.*5C>T rs748428663 0.00001
NM_000342.4(SLC4A1):c.*624G>A rs988105334 0.00001
NM_000342.4(SLC4A1):c.-65C>A rs886053001 0.00001
NM_000342.4(SLC4A1):c.1181T>C (p.Leu394Pro) rs768426818 0.00001
NM_000342.4(SLC4A1):c.1225G>A (p.Val409Ile) rs201821517 0.00001
NM_000342.4(SLC4A1):c.1468C>T (p.Arg490Cys) rs1398477044 0.00001
NM_000342.4(SLC4A1):c.1471G>A (p.Val491Met) rs757478694 0.00001
NM_000342.4(SLC4A1):c.1480G>A (p.Gly494Ser) rs751771382 0.00001
NM_000342.4(SLC4A1):c.1669G>A (p.Val557Met) rs121912743 0.00001
NM_000342.4(SLC4A1):c.173A>G (p.Tyr58Cys) rs368863744 0.00001
NM_000342.4(SLC4A1):c.1928C>T (p.Ser643Phe) rs763988041 0.00001
NM_000342.4(SLC4A1):c.1971C>T (p.Ser657=) rs200107906 0.00001
NM_000342.4(SLC4A1):c.2035T>C (p.Phe679Leu) rs776831481 0.00001
NM_000342.4(SLC4A1):c.2149G>A (p.Ala717Thr) rs750490778 0.00001
NM_000342.4(SLC4A1):c.2185G>A (p.Val729Met) rs775748758 0.00001
NM_000342.4(SLC4A1):c.2210C>T (p.Ala737Val) rs886052997 0.00001
NM_000342.4(SLC4A1):c.2387G>C (p.Gly796Ala) rs766885976 0.00001
NM_000342.4(SLC4A1):c.2482-9C>T rs886052995 0.00001
NM_000342.4(SLC4A1):c.2612G>A (p.Arg871His) rs781396793 0.00001
NM_000342.4(SLC4A1):c.2614G>A (p.Val872Ile) rs747337202 0.00001
NM_000342.4(SLC4A1):c.2656C>A (p.Leu886Met) rs150340150 0.00001
NM_000342.4(SLC4A1):c.567C>G (p.Leu189=) rs746103796 0.00001
NM_000342.4(SLC4A1):c.604G>A (p.Glu202Lys) rs879205711 0.00001
NM_000342.4(SLC4A1):c.636A>G (p.Ser212=) rs886053000 0.00001
NM_000342.4(SLC4A1):c.695-3C>A rs772264078 0.00001
NM_000342.4(SLC4A1):c.829G>A (p.Asp277Asn) rs138288425 0.00001
NM_000342.3(SLC4A1):c.(1094_1375)_(2057+11_2058-41)del
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln) rs121912755
NM_000342.3(SLC4A1):c.2464_2465insCACCCAGATG (p.Val822Alafs) rs387906566
NM_000342.3(SLC4A1):c.2509A>G (p.Thr837Ala) rs121912750
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp) rs28931585
NM_000342.3(SLC4A1):c.448C>T (p.Arg150Ter) rs56361140
NM_000342.3(SLC4A1):c.988C>T (p.Gln330Ter) rs121912742
NM_000342.4(SLC4A1):c.*1032C>T rs557549888
NM_000342.4(SLC4A1):c.*1047T>C rs2047320056
NM_000342.4(SLC4A1):c.*1316C>T rs886052991
NM_000342.4(SLC4A1):c.*1609C>T rs1039193295
NM_000342.4(SLC4A1):c.*1693G>A rs2047314555
NM_000342.4(SLC4A1):c.*1791C>T rs941106311
NM_000342.4(SLC4A1):c.*265A>C rs2047325817
NM_000342.4(SLC4A1):c.*649G>A rs1054653641
NM_000342.4(SLC4A1):c.*701C>G rs13306779
NM_000342.4(SLC4A1):c.*745G>A rs1174269872
NM_000342.4(SLC4A1):c.*753C>T rs763961316
NM_000342.4(SLC4A1):c.*872G>C rs886052994
NM_000342.4(SLC4A1):c.*936G>T rs1051135906
NM_000342.4(SLC4A1):c.*984T>G rs878998198
NM_000342.4(SLC4A1):c.-59G>T rs2047459963
NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter) rs750930293
NM_000342.4(SLC4A1):c.1040A>C (p.Tyr347Ser)
NM_000342.4(SLC4A1):c.1043A>C (p.Gln348Pro)
NM_000342.4(SLC4A1):c.107-14C>A
NM_000342.4(SLC4A1):c.1103C>T (p.Pro368Leu)
NM_000342.4(SLC4A1):c.1127G>A (p.Gly376Asp)
NM_000342.4(SLC4A1):c.112G>A (p.Asp38Asn)
NM_000342.4(SLC4A1):c.1150C>T (p.Arg384Cys)
NM_000342.4(SLC4A1):c.1153G>C (p.Asp385His) rs2047407019
NM_000342.4(SLC4A1):c.1172C>T (p.Pro391Leu)
NM_000342.4(SLC4A1):c.1179C>T (p.Tyr393=) rs2047406551
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) rs769664228
NM_000342.4(SLC4A1):c.1202T>G (p.Phe401Cys) rs141751197
NM_000342.4(SLC4A1):c.1204A>G (p.Ser402Gly)
NM_000342.4(SLC4A1):c.1242del (p.Phe414fs)
NM_000342.4(SLC4A1):c.1267_1268insG (p.Phe423fs)
NM_000342.4(SLC4A1):c.1273G>A (p.Gly425Ser)
NM_000342.4(SLC4A1):c.1294C>T (p.Arg432Trp)
NM_000342.4(SLC4A1):c.1318C>G (p.Leu440Val)
NM_000342.4(SLC4A1):c.1319T>A (p.Leu440Gln) rs2144613306
NM_000342.4(SLC4A1):c.1322T>G (p.Leu441Arg) rs1555596165
NM_000342.4(SLC4A1):c.1331C>A (p.Thr444Asn) rs754973425
NM_000342.4(SLC4A1):c.1331C>G (p.Thr444Ser) rs754973425
NM_000342.4(SLC4A1):c.1337T>C (p.Val446Ala)
NM_000342.4(SLC4A1):c.1421C>G (p.Ala474Gly)
NM_000342.4(SLC4A1):c.1430C>T (p.Ser477Leu)
NM_000342.4(SLC4A1):c.143C>T (p.Thr48Ile)
NM_000342.4(SLC4A1):c.1442C>G (p.Thr481Ser)
NM_000342.4(SLC4A1):c.1458C>G (p.Tyr486Ter) rs1555596072
NM_000342.4(SLC4A1):c.1484_1490del (p.Phe495fs)
NM_000342.4(SLC4A1):c.1492A>C (p.Ile498Leu)
NM_000342.4(SLC4A1):c.1501G>A (p.Val501Met)
NM_000342.4(SLC4A1):c.1507T>G (p.Leu503Val)
NM_000342.4(SLC4A1):c.1513G>A (p.Val505Met)
NM_000342.4(SLC4A1):c.1514T>A (p.Val505Glu)
NM_000342.4(SLC4A1):c.1515G>A (p.Val505=)
NM_000342.4(SLC4A1):c.1530C>G (p.Ser510Arg) rs1567831936
NM_000342.4(SLC4A1):c.1541G>A (p.Arg514His) rs745839527
NM_000342.4(SLC4A1):c.1553G>A (p.Arg518His)
NM_000342.4(SLC4A1):c.1610dup (p.Ser538fs) rs2047398183
NM_000342.4(SLC4A1):c.161C>T (p.Thr54Ile)
NM_000342.4(SLC4A1):c.1626+7G>A rs765327742
NM_000342.4(SLC4A1):c.1642C>A (p.Pro548Thr)
NM_000342.4(SLC4A1):c.1737C>A (p.Ala579=)
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000342.4(SLC4A1):c.1766G>A (p.Arg589His) rs121912744
NM_000342.4(SLC4A1):c.1780A>T (p.Ser594Cys)
NM_000342.4(SLC4A1):c.1782C>G (p.Ser594Arg)
NM_000342.4(SLC4A1):c.1800+3C>G
NM_000342.4(SLC4A1):c.1805G>C (p.Arg602Pro) rs121912754
NM_000342.4(SLC4A1):c.1807C>T (p.Arg603Trp)
NM_000342.4(SLC4A1):c.1819G>A (p.Asp607Asn) rs2144606989
NM_000342.4(SLC4A1):c.1825G>A (p.Gly609Arg) rs878853002
NM_000342.4(SLC4A1):c.1890+7C>T
NM_000342.4(SLC4A1):c.1891-10C>T
NM_000342.4(SLC4A1):c.1940G>A (p.Gly647Asp)
NM_000342.4(SLC4A1):c.2019G>A (p.Leu673=) rs2047371426
NM_000342.4(SLC4A1):c.2020G>A (p.Val674Ile)
NM_000342.4(SLC4A1):c.2020del (p.Val674fs)
NM_000342.4(SLC4A1):c.2032A>C (p.Ile678Leu)
NM_000342.4(SLC4A1):c.2058-16C>A
NM_000342.4(SLC4A1):c.2060T>C (p.Leu687Pro) rs863225463
NM_000342.4(SLC4A1):c.2089G>T (p.Val697Phe)
NM_000342.4(SLC4A1):c.2115C>G (p.Asp705Glu)
NM_000342.4(SLC4A1):c.2116C>A (p.Leu706Met)
NM_000342.4(SLC4A1):c.2131G>A (p.Gly711Ser)
NM_000342.4(SLC4A1):c.2159G>T (p.Gly720Val)
NM_000342.4(SLC4A1):c.2165C>T (p.Pro722Leu)
NM_000342.4(SLC4A1):c.217C>A (p.Leu73Met)
NM_000342.4(SLC4A1):c.2191T>C (p.Ser731Pro) rs863225461
NM_000342.4(SLC4A1):c.2194G>A (p.Val732Ile)
NM_000342.4(SLC4A1):c.2201A>G (p.His734Arg) rs863225462
NM_000342.4(SLC4A1):c.2243G>A (p.Gly748Glu) rs886052996
NM_000342.4(SLC4A1):c.2252C>T (p.Ala751Val)
NM_000342.4(SLC4A1):c.2260C>T (p.Gln754Ter) rs2144601189
NM_000342.4(SLC4A1):c.2269A>T (p.Lys757Ter) rs2144601154
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp) rs373916826
NM_000342.4(SLC4A1):c.2312G>T (p.Gly771Val) rs121912741
NM_000342.4(SLC4A1):c.2326A>G (p.Met776Val)
NM_000342.4(SLC4A1):c.2344C>T (p.Arg782Cys) rs148317876
NM_000342.4(SLC4A1):c.2345G>A (p.Arg782His)
NM_000342.4(SLC4A1):c.2369G>A (p.Gly790Asp)
NM_000342.4(SLC4A1):c.239G>C (p.Arg80Pro)
NM_000342.4(SLC4A1):c.2404G>A (p.Gly802Ser)
NM_000342.4(SLC4A1):c.2416T>C (p.Phe806Leu)
NM_000342.4(SLC4A1):c.2423G>A (p.Arg808His) rs866727908
NM_000342.4(SLC4A1):c.2444C>T (p.Pro815Leu)
NM_000342.4(SLC4A1):c.2458C>T (p.Pro820Ser)
NM_000342.4(SLC4A1):c.2464del (p.Val822fs)
NM_000342.4(SLC4A1):c.2492G>A (p.Trp831Ter)
NM_000342.4(SLC4A1):c.2516T>A (p.Ile839Asn)
NM_000342.4(SLC4A1):c.253GAG[1] (p.Glu86del) rs774121522
NM_000342.4(SLC4A1):c.2545GTG[1] (p.Val850del) rs121912752
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000342.4(SLC4A1):c.2578C>T (p.Pro860Ser)
NM_000342.4(SLC4A1):c.2586C>A (p.Val862=) rs1485187596
NM_000342.4(SLC4A1):c.2609G>A (p.Arg870Gln)
NM_000342.4(SLC4A1):c.261C>A (p.Asn87Lys) rs761763084
NM_000342.4(SLC4A1):c.2624C>T (p.Pro875Leu)
NM_000342.4(SLC4A1):c.2652G>T (p.Gln884His)
NM_000342.4(SLC4A1):c.2655+2_2655+3del
NM_000342.4(SLC4A1):c.2702G>C (p.Arg901Pro) rs189300762
NM_000342.4(SLC4A1):c.2716G>A (p.Glu906Lys) rs199694087
NM_000342.4(SLC4A1):c.2716G>T (p.Glu906Ter) rs199694087
NM_000342.4(SLC4A1):c.2726T>C (p.Met909Thr) rs2047328405
NM_000342.4(SLC4A1):c.283G>C (p.Gly95Arg) rs1380205574
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys) rs538778224
NM_000342.4(SLC4A1):c.290C>T (p.Pro97Leu)
NM_000342.4(SLC4A1):c.29A>T (p.Asp10Val)
NM_000342.4(SLC4A1):c.319C>T (p.Leu107Phe) rs2047435499
NM_000342.4(SLC4A1):c.331C>T (p.Arg111Cys)
NM_000342.4(SLC4A1):c.344C>T (p.Thr115Ile) rs2047435077
NM_000342.4(SLC4A1):c.349+1G>C
NM_000342.4(SLC4A1):c.370C>T (p.Gln124Ter)
NM_000342.4(SLC4A1):c.391G>C (p.Val131Leu)
NM_000342.4(SLC4A1):c.421T>C (p.Phe141Leu)
NM_000342.4(SLC4A1):c.449G>T (p.Arg150Leu)
NM_000342.4(SLC4A1):c.457C>G (p.Leu153Val)
NM_000342.4(SLC4A1):c.463C>T (p.Arg155Trp)
NM_000342.4(SLC4A1):c.486-14T>G
NM_000342.4(SLC4A1):c.486-2A>G rs1555596757
NM_000342.4(SLC4A1):c.573A>G (p.Gln191=)
NM_000342.4(SLC4A1):c.574C>A (p.His192Asn)
NM_000342.4(SLC4A1):c.609+1G>A rs1362663440
NM_000342.4(SLC4A1):c.619G>A (p.Gly207Ser)
NM_000342.4(SLC4A1):c.659T>C (p.Ile220Thr)
NM_000342.4(SLC4A1):c.697C>G (p.Arg233Gly) rs779054292
NM_000342.4(SLC4A1):c.700G>A (p.Ala234Thr)
NM_000342.4(SLC4A1):c.703G>A (p.Asp235Asn)
NM_000342.4(SLC4A1):c.733G>A (p.Val245Met) rs148170067
NM_000342.4(SLC4A1):c.768G>A (p.Val256=)
NM_000342.4(SLC4A1):c.776C>T (p.Pro259Leu)
NM_000342.4(SLC4A1):c.788G>A (p.Arg263His)
NM_000342.4(SLC4A1):c.796T>C (p.Phe266Leu)
NM_000342.4(SLC4A1):c.828C>T (p.Ile276=)
NM_000342.4(SLC4A1):c.82G>A (p.Glu28Lys)
NM_000342.4(SLC4A1):c.85T>G (p.Ser29Ala)
NM_000342.4(SLC4A1):c.862C>A (p.Leu288Ile)
NM_000342.4(SLC4A1):c.866T>C (p.Met289Thr)
NM_000342.4(SLC4A1):c.910C>T (p.Arg304Ter)
NM_000342.4(SLC4A1):c.92T>C (p.Met31Thr) rs55773290
NM_000342.4(SLC4A1):c.93G>T (p.Met31Ile)

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