ClinVar Miner

List of variants in gene SLC4A1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 603
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000342.4(SLC4A1):c.*1568G>A rs5033 0.63671
NM_000342.4(SLC4A1):c.2311+315T>G rs2857078 0.61745
NM_000342.4(SLC4A1):c.2312-48T>G rs13306780 0.57480
NM_000342.4(SLC4A1):c.877-158G>A rs2074108 0.53172
NM_000342.4(SLC4A1):c.107-420G>A rs999716 0.36813
NM_000342.4(SLC4A1):c.*333C>A rs2072081 0.36187
NM_000342.4(SLC4A1):c.349+27C>T rs2074107 0.23481
NM_000342.4(SLC4A1):c.609+86G>A rs2857082 0.21141
NM_000342.4(SLC4A1):c.1432-38A>G rs2252501 0.19760
NM_000342.4(SLC4A1):c.1087+96C>T rs13306775 0.19168
NM_000342.4(SLC4A1):c.169-65T>C rs2854528 0.14470
NM_000342.4(SLC4A1):c.1801-139G>A rs11870606 0.10873
NM_000342.4(SLC4A1):c.169-169A>G rs45545233 0.09968
NM_000342.4(SLC4A1):c.169-299C>T rs45583834 0.09958
NM_000342.4(SLC4A1):c.169-270C>T rs45574837 0.06869
NM_000342.4(SLC4A1):c.169-311G>A rs35836399 0.05736
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.106+259G>A rs16940582 0.04136
NM_000342.4(SLC4A1):c.2312-143_2312-142insC rs201794008 0.04001
NM_000342.4(SLC4A1):c.695-71C>T rs45488001 0.03358
NM_000342.4(SLC4A1):c.1801-144A>G rs45520231 0.03280
NM_000342.4(SLC4A1):c.1626+66T>C rs1970774 0.03108
NM_000342.4(SLC4A1):c.1249C>T (p.Leu417=) rs5015 0.03061
NM_000342.4(SLC4A1):c.610-32G>A rs45473992 0.03059
NM_000342.4(SLC4A1):c.876+107C>T rs2521602 0.03040
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.106+55C>A rs45469892 0.02183
NM_000342.4(SLC4A1):c.106+242C>T rs16940585 0.02039
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.2312-182C>T rs114432135 0.00811
NM_000342.4(SLC4A1):c.*335G>A rs13306777 0.00773
NM_000342.4(SLC4A1):c.168+60C>T rs76359979 0.00719
NM_000342.4(SLC4A1):c.2311+19G>A rs2285643 0.00675
NM_000342.4(SLC4A1):c.-68-96G>A rs80003147 0.00610
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.2561C>T (p.Pro854Leu) rs2285644 0.00284
NM_000342.4(SLC4A1):c.1890+34C>T rs45508401 0.00206
NM_000342.4(SLC4A1):c.1314G>A (p.Ser438=) rs13306781 0.00193
NM_000342.4(SLC4A1):c.-135G>A rs183529485 0.00173
NM_000342.4(SLC4A1):c.1522G>A (p.Glu508Lys) rs45568837 0.00136
NM_000342.4(SLC4A1):c.2716G>C (p.Glu906Gln) rs199694087 0.00128
NM_000342.3(SLC4A1):c.-195A>G rs764370834 0.00106
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.1692G>A (p.Gln564=) rs145978062 0.00061
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.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.2701C>T (p.Arg901Trp) rs201265160 0.00031
NM_000342.4(SLC4A1):c.486-18C>T rs201023917 0.00031
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.337G>A (p.Val113Ile) rs142757938 0.00024
NM_000342.4(SLC4A1):c.798T>C (p.Phe266=) rs193011645 0.00023
NM_000342.4(SLC4A1):c.2058-37G>A rs201915292 0.00017
NM_000342.4(SLC4A1):c.277G>T (p.Ala93Ser) rs145054469 0.00017
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.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.1193C>T (p.Thr398Ile) rs150913170 0.00011
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.-3G>A rs372104017 0.00008
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.102G>A (p.Pro34=) rs55898602 0.00006
NM_000342.4(SLC4A1):c.2625G>A (p.Pro875=) rs202243808 0.00006
NM_000342.4(SLC4A1):c.2694G>A (p.Glu898=) rs373388521 0.00006
NM_000342.4(SLC4A1):c.279C>T (p.Ala93=) rs552527060 0.00006
NM_000342.4(SLC4A1):c.454G>A (p.Glu152Lys) rs55840505 0.00006
NM_000342.4(SLC4A1):c.769G>A (p.Glu257Lys) rs142195740 0.00006
NM_000342.4(SLC4A1):c.985G>A (p.Glu329Lys) rs141370158 0.00006
NM_000342.4(SLC4A1):c.2193C>T (p.Ser731=) rs754017629 0.00005
NM_000342.4(SLC4A1):c.2343C>T (p.Ser781=) rs745610165 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.1160G>A (p.Arg387Gln) rs201280873 0.00004
NM_000342.4(SLC4A1):c.169-8G>C rs376589349 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.233C>T (p.Ala78Val) rs186542577 0.00004
NM_000342.4(SLC4A1):c.2482-13C>A rs375493261 0.00004
NM_000342.4(SLC4A1):c.787C>T (p.Arg263Cys) rs145071135 0.00004
NM_000342.4(SLC4A1):c.1162C>T (p.Arg388Cys) rs765891978 0.00003
NM_000342.4(SLC4A1):c.1311G>A (p.Val437=) rs370089486 0.00003
NM_000342.4(SLC4A1):c.16-3C>T rs750617119 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.1284A>G (p.Gly428=) rs387907516 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.2184C>T (p.Thr728=) rs150858709 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.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_000342.4(SLC4A1):c.1123A>G (p.Thr375Ala) rs2047407383 0.00001
NM_000342.4(SLC4A1):c.1181T>C (p.Leu394Pro) rs768426818 0.00001
NM_000342.4(SLC4A1):c.1269C>T (p.Phe423=) rs768727937 0.00001
NM_000342.4(SLC4A1):c.1295G>A (p.Arg432Gln) rs200576400 0.00001
NM_000342.4(SLC4A1):c.1431+1G>A rs2047401561 0.00001
NM_000342.4(SLC4A1):c.1468C>T (p.Arg490Cys) rs1398477044 0.00001
NM_000342.4(SLC4A1):c.1480G>A (p.Gly494Ser) rs751771382 0.00001
NM_000342.4(SLC4A1):c.173A>G (p.Tyr58Cys) rs368863744 0.00001
NM_000342.4(SLC4A1):c.1926C>T (p.Asn642=) rs773993401 0.00001
NM_000342.4(SLC4A1):c.1936C>T (p.Arg646Trp) rs121912758 0.00001
NM_000342.4(SLC4A1):c.2008C>G (p.Pro670Ala) rs199929662 0.00001
NM_000342.4(SLC4A1):c.2055C>T (p.Thr685=) rs375136281 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.229G>A (p.Glu77Lys) rs1567834917 0.00001
NM_000342.4(SLC4A1):c.2387G>C (p.Gly796Ala) rs766885976 0.00001
NM_000342.4(SLC4A1):c.2612G>A (p.Arg871His) rs781396793 0.00001
NM_000342.4(SLC4A1):c.32T>G (p.Met11Arg) rs1053490380 0.00001
NM_000342.4(SLC4A1):c.33G>A (p.Met11Ile) rs764087255 0.00001
NM_000342.4(SLC4A1):c.486-9G>A rs201302444 0.00001
NM_000342.4(SLC4A1):c.490G>A (p.Ala164Thr) rs543366685 0.00001
NM_000342.4(SLC4A1):c.510G>A (p.Leu170=) rs770649533 0.00001
NM_000342.4(SLC4A1):c.55G>A (p.Glu19Lys) rs55926998 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.633C>T (p.His211=) rs769631746 0.00001
NM_000342.4(SLC4A1):c.636A>G (p.Ser212=) rs886053000 0.00001
NM_000342.4(SLC4A1):c.720G>A (p.Pro240=) rs543522229 0.00001
NM_000342.4(SLC4A1):c.829G>A (p.Asp277Asn) rs138288425 0.00001
NM_000342.4(SLC4A1):c.877-7C>T rs1463572195 0.00001
NM_000342.4(SLC4A1):c.886A>G (p.Ile296Val) rs781169594 0.00001
NM_000342.4(SLC4A1):c.990G>A (p.Gln330=) rs147828448 0.00001
GRCh37/hg19 17q21.31(chr17:42326687-42340104)x3
NC_000017.10:g.(?_42330466)_(42330759_?)dup
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln) rs121912755
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp) rs28931585
NM_000342.3(SLC4A1):c.448C>T (p.Arg150Ter) rs56361140
NM_000342.4(SLC4A1):c.*1606_*1608dup rs57466226
NM_000342.4(SLC4A1):c.*1608del rs57466226
NM_000342.4(SLC4A1):c.1001del (p.Ser334fs)
NM_000342.4(SLC4A1):c.1004_1007dup (p.Pro337fs)
NM_000342.4(SLC4A1):c.1006G>A (p.Val336Met)
NM_000342.4(SLC4A1):c.1010del (p.Pro337fs)
NM_000342.4(SLC4A1):c.1026A>C (p.Leu342=)
NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter) rs750930293
NM_000342.4(SLC4A1):c.1030_1041delinsGG (p.Arg344fs)
NM_000342.4(SLC4A1):c.1031G>A (p.Arg344Gln)
NM_000342.4(SLC4A1):c.1032_1033insT (p.Arg345Ter)
NM_000342.4(SLC4A1):c.1034G>A (p.Arg345Lys)
NM_000342.4(SLC4A1):c.1036C>T (p.Arg346Cys)
NM_000342.4(SLC4A1):c.1037G>T (p.Arg346Leu)
NM_000342.4(SLC4A1):c.1042C>G (p.Gln348Glu)
NM_000342.4(SLC4A1):c.1058dup (p.Pro354fs) rs2144615077
NM_000342.4(SLC4A1):c.1059dup (p.Pro354fs) rs2144615066
NM_000342.4(SLC4A1):c.106+15C>G
NM_000342.4(SLC4A1):c.106+15C>T
NM_000342.4(SLC4A1):c.106+1G>A
NM_000342.4(SLC4A1):c.106+2T>A
NM_000342.4(SLC4A1):c.1064A>G (p.Asp355Gly)
NM_000342.4(SLC4A1):c.1065C>T (p.Asp355=)
NM_000342.4(SLC4A1):c.1067_1068insT (p.Ser357fs)
NM_000342.4(SLC4A1):c.107-117dup rs13306783
NM_000342.4(SLC4A1):c.107-13C>T
NM_000342.4(SLC4A1):c.107-17C>T
NM_000342.4(SLC4A1):c.107-299C>A rs2074106
NM_000342.4(SLC4A1):c.1071C>G (p.Ser357Arg)
NM_000342.4(SLC4A1):c.1087+13C>T
NM_000342.4(SLC4A1):c.1090T>G (p.Leu364Val)
NM_000342.4(SLC4A1):c.1117C>T (p.Gln373Ter) rs1472653057
NM_000342.4(SLC4A1):c.1118A>T (p.Gln373Leu)
NM_000342.4(SLC4A1):c.111C>T (p.His37=)
NM_000342.4(SLC4A1):c.1122G>A (p.Gln374=)
NM_000342.4(SLC4A1):c.1127G>A (p.Gly376Asp)
NM_000342.4(SLC4A1):c.1138G>A (p.Gly380Arg)
NM_000342.4(SLC4A1):c.1144_1145del (p.Leu382fs)
NM_000342.4(SLC4A1):c.1147G>C (p.Val383Leu)
NM_000342.4(SLC4A1):c.1153G>C (p.Asp385His) rs2047407019
NM_000342.4(SLC4A1):c.1159C>T (p.Arg387Trp)
NM_000342.4(SLC4A1):c.1172C>T (p.Pro391Leu)
NM_000342.4(SLC4A1):c.1173dup (p.Tyr392fs)
NM_000342.4(SLC4A1):c.1174del (p.Tyr392fs)
NM_000342.4(SLC4A1):c.1177T>A (p.Tyr393Asn)
NM_000342.4(SLC4A1):c.1180del (p.Tyr393_Leu394insTer) rs2144614196
NM_000342.4(SLC4A1):c.1186G>A (p.Asp396Asn)
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) rs769664228
NM_000342.4(SLC4A1):c.1201T>C (p.Phe401Leu)
NM_000342.4(SLC4A1):c.1204A>G (p.Ser402Gly)
NM_000342.4(SLC4A1):c.1216C>A (p.Leu406Met)
NM_000342.4(SLC4A1):c.1221del (p.Ala408fs)
NM_000342.4(SLC4A1):c.1224C>T (p.Ala408=)
NM_000342.4(SLC4A1):c.1228del (p.Ile410fs)
NM_000342.4(SLC4A1):c.1229T>A (p.Ile410Asn)
NM_000342.4(SLC4A1):c.1242T>C (p.Phe414=)
NM_000342.4(SLC4A1):c.1242del (p.Phe414fs)
NM_000342.4(SLC4A1):c.1244C>G (p.Ala415Gly)
NM_000342.4(SLC4A1):c.1250T>C (p.Leu417Pro) rs2047405727
NM_000342.4(SLC4A1):c.1257C>T (p.Pro419=)
NM_000342.4(SLC4A1):c.1283-1G>A
NM_000342.4(SLC4A1):c.1283-3del
NM_000342.4(SLC4A1):c.1283-4_1284delinsG
NM_000342.4(SLC4A1):c.1295G>C (p.Arg432Pro)
NM_000342.4(SLC4A1):c.129C>T (p.Ala43=)
NM_000342.4(SLC4A1):c.1313C>T (p.Ser438Leu)
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.1343G>A (p.Gly448Asp)
NM_000342.4(SLC4A1):c.134_137dup (p.Tyr46Ter)
NM_000342.4(SLC4A1):c.1353_1380del (p.Phe451fs)
NM_000342.4(SLC4A1):c.1354G>A (p.Ala452Thr)
NM_000342.4(SLC4A1):c.1357CTG[1] (p.Leu454del)
NM_000342.4(SLC4A1):c.1361T>G (p.Leu454Arg) rs2144613156
NM_000342.4(SLC4A1):c.1363G>T (p.Gly455Trp)
NM_000342.4(SLC4A1):c.1366G>A (p.Ala456Thr)
NM_000342.4(SLC4A1):c.1366G>C (p.Ala456Pro)
NM_000342.4(SLC4A1):c.1375C>T (p.Leu459=) rs387907517
NM_000342.4(SLC4A1):c.1386C>T (p.Val462=)
NM_000342.4(SLC4A1):c.1400C>T (p.Pro467Leu) rs2047401850
NM_000342.4(SLC4A1):c.1403T>G (p.Leu468Arg) rs2144613014
NM_000342.4(SLC4A1):c.1421C>A (p.Ala474Asp)
NM_000342.4(SLC4A1):c.1422del (p.Phe475fs)
NM_000342.4(SLC4A1):c.1424TCT[1] (p.Phe476del)
NM_000342.4(SLC4A1):c.1428_1430del (p.Phe476_Ser477delinsLeu) rs2144612947
NM_000342.4(SLC4A1):c.1431+12C>T
NM_000342.4(SLC4A1):c.1431G>A (p.Ser477=) rs1176855098
NM_000342.4(SLC4A1):c.1431G>C (p.Ser477=)
NM_000342.4(SLC4A1):c.1435T>G (p.Cys479Gly)
NM_000342.4(SLC4A1):c.1436_1437delinsTT (p.Cys479Phe)
NM_000342.4(SLC4A1):c.1437C>A (p.Cys479Ter)
NM_000342.4(SLC4A1):c.1437C>T (p.Cys479=)
NM_000342.4(SLC4A1):c.1442C>G (p.Thr481Ser)
NM_000342.4(SLC4A1):c.1446C>T (p.Asn482=)
NM_000342.4(SLC4A1):c.1451_1468del (p.Leu484_Gly489del)
NM_000342.4(SLC4A1):c.1458_1459dup (p.Ile487fs)
NM_000342.4(SLC4A1):c.1460T>C (p.Ile487Thr)
NM_000342.4(SLC4A1):c.1468C>G (p.Arg490Gly)
NM_000342.4(SLC4A1):c.1469G>A (p.Arg490His) rs1598299485
NM_000342.4(SLC4A1):c.1470C>T (p.Arg490=)
NM_000342.4(SLC4A1):c.1476G>A (p.Trp492Ter)
NM_000342.4(SLC4A1):c.1480G>T (p.Gly494Cys)
NM_000342.4(SLC4A1):c.1491C>T (p.Leu497=)
NM_000342.4(SLC4A1):c.1492A>C (p.Ile498Leu)
NM_000342.4(SLC4A1):c.15+3G>A
NM_000342.4(SLC4A1):c.15+6T>C rs1290298597
NM_000342.4(SLC4A1):c.1501G>A (p.Val501Met)
NM_000342.4(SLC4A1):c.1507T>G (p.Leu503Val)
NM_000342.4(SLC4A1):c.1507_1512del (p.Leu503_Val504del)
NM_000342.4(SLC4A1):c.1512G>A (p.Val504=) rs2144612292
NM_000342.4(SLC4A1):c.1513G>A (p.Val505Met)
NM_000342.4(SLC4A1):c.1517C>A (p.Ala506Asp)
NM_000342.4(SLC4A1):c.1541G>A (p.Arg514His) rs745839527
NM_000342.4(SLC4A1):c.1554C>T (p.Arg518=)
NM_000342.4(SLC4A1):c.1561C>T (p.Gln521Ter) rs2144612096
NM_000342.4(SLC4A1):c.1574C>T (p.Ser525Phe) rs1555596013
NM_000342.4(SLC4A1):c.1593C>A (p.Ile531=)
NM_000342.4(SLC4A1):c.16-11A>G rs2144625216
NM_000342.4(SLC4A1):c.16-15G>A
NM_000342.4(SLC4A1):c.16-1G>A
NM_000342.4(SLC4A1):c.1602T>A (p.Tyr534Ter)
NM_000342.4(SLC4A1):c.1603G>T (p.Glu535Ter)
NM_000342.4(SLC4A1):c.1610dup (p.Ser538fs) rs2047398183
NM_000342.4(SLC4A1):c.1626+1G>T rs1192674860
NM_000342.4(SLC4A1):c.1626+4G>A
NM_000342.4(SLC4A1):c.1626+7G>T
NM_000342.4(SLC4A1):c.1626G>A (p.Lys542=) rs2144611947
NM_000342.4(SLC4A1):c.1627-3C>T
NM_000342.4(SLC4A1):c.1642C>A (p.Pro548Thr)
NM_000342.4(SLC4A1):c.1650G>C (p.Gln550His)
NM_000342.4(SLC4A1):c.1659T>A (p.Tyr553Ter)
NM_000342.4(SLC4A1):c.1668C>G (p.Asn556Lys)
NM_000342.4(SLC4A1):c.1674dup (p.Met559fs)
NM_000342.4(SLC4A1):c.167del (p.Lys56fs)
NM_000342.4(SLC4A1):c.168+163del rs576908160
NM_000342.4(SLC4A1):c.168+1G>A
NM_000342.4(SLC4A1):c.169-11T>C
NM_000342.4(SLC4A1):c.169-14G>T
NM_000342.4(SLC4A1):c.169-15C>T
NM_000342.4(SLC4A1):c.169-6_169-5delinsG
NM_000342.4(SLC4A1):c.1694G>C (p.Gly565Ala)
NM_000342.4(SLC4A1):c.1726G>A (p.Val576Met)
NM_000342.4(SLC4A1):c.1733T>C (p.Met578Thr)
NM_000342.4(SLC4A1):c.1738_1741dup (p.Thr581fs)
NM_000342.4(SLC4A1):c.1742C>A (p.Thr581Asn)
NM_000342.4(SLC4A1):c.1759A>G (p.Met587Val)
NM_000342.4(SLC4A1):c.1765C>A (p.Arg589Ser) rs121912745
NM_000342.4(SLC4A1):c.1765C>G (p.Arg589Gly)
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.1782C>G (p.Ser594Arg)
NM_000342.4(SLC4A1):c.1785C>T (p.Ser595=) rs1598298414
NM_000342.4(SLC4A1):c.1786_1787insGCTCCCTCTCCCGTCTCCCGCTCACTCTCCCGTCTCCCGCTCCCTCTCCCGGCACCCTCGCCCGCACCCCGCACCCACGCCCTCGCCAGCCGCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAACAGCTCCT (p.Ser595_Tyr596insCysSerLeuSerArgLeuProLeuThrLeuProSerProAlaProSerProGlyThrLeuAlaArgThrProHisProArgProArgGlnProArgXaaXaaXaaXaaLysLysLysLysLysLysLysAsnSerSer)
NM_000342.4(SLC4A1):c.1790del (p.Phe597fs)
NM_000342.4(SLC4A1):c.1800+18G>A
NM_000342.4(SLC4A1):c.1800+1G>A
NM_000342.4(SLC4A1):c.1807C>T (p.Arg603Trp)
NM_000342.4(SLC4A1):c.1808G>A (p.Arg603Gln)
NM_000342.4(SLC4A1):c.1810del (p.Val604fs)
NM_000342.4(SLC4A1):c.1818G>A (p.Gly606=) rs1327825042
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.1848C>T (p.Ile616=)
NM_000342.4(SLC4A1):c.184C>T (p.Gln62Ter)
NM_000342.4(SLC4A1):c.1861G>T (p.Asp621Tyr)
NM_000342.4(SLC4A1):c.1874A>G (p.Gln625Arg)
NM_000342.4(SLC4A1):c.1889A>C (p.Gln630Pro)
NM_000342.4(SLC4A1):c.1890+1G>A rs1567830555
NM_000342.4(SLC4A1):c.1890G>T (p.Gln630His) rs2047378030
NM_000342.4(SLC4A1):c.1891-7C>T
NM_000342.4(SLC4A1):c.1891-9C>T
NM_000342.4(SLC4A1):c.1893dup (p.Leu632fs)
NM_000342.4(SLC4A1):c.1898C>T (p.Ser633Leu)
NM_000342.4(SLC4A1):c.1899G>A (p.Ser633=)
NM_000342.4(SLC4A1):c.1915A>T (p.Lys639Ter)
NM_000342.4(SLC4A1):c.1916del (p.Lys639fs)
NM_000342.4(SLC4A1):c.1918G>A (p.Val640Met)
NM_000342.4(SLC4A1):c.1936C>A (p.Arg646=)
NM_000342.4(SLC4A1):c.1937G>C (p.Arg646Pro)
NM_000342.4(SLC4A1):c.1942del (p.Trp648fs)
NM_000342.4(SLC4A1):c.1943G>A (p.Trp648Ter)
NM_000342.4(SLC4A1):c.1954C>T (p.Pro652Ser)
NM_000342.4(SLC4A1):c.1955del (p.Pro652fs)
NM_000342.4(SLC4A1):c.1957del (p.Leu653fs)
NM_000342.4(SLC4A1):c.1967G>A (p.Arg656His)
NM_000342.4(SLC4A1):c.1969T>A (p.Ser657Thr)
NM_000342.4(SLC4A1):c.1969T>G (p.Ser657Ala)
NM_000342.4(SLC4A1):c.1970_1976del (p.Ser657fs)
NM_000342.4(SLC4A1):c.1972G>C (p.Glu658Gln)
NM_000342.4(SLC4A1):c.1972_1979del (p.Glu658fs)
NM_000342.4(SLC4A1):c.1980C>T (p.Pro660=)
NM_000342.4(SLC4A1):c.1982T>A (p.Ile661Asn)
NM_000342.4(SLC4A1):c.1986G>T (p.Trp662Cys)
NM_000342.4(SLC4A1):c.1987ATG[1] (p.Met664del)
NM_000342.4(SLC4A1):c.1999T>A (p.Ser667Thr)
NM_000342.4(SLC4A1):c.2000C>A (p.Ser667Tyr)
NM_000342.4(SLC4A1):c.2001C>T (p.Ser667=)
NM_000342.4(SLC4A1):c.2009C>G (p.Pro670Arg)
NM_000342.4(SLC4A1):c.2011G>C (p.Ala671Pro)
NM_000342.4(SLC4A1):c.2018T>C (p.Leu673Pro) rs2144604879
NM_000342.4(SLC4A1):c.201C>T (p.Asp67=)
NM_000342.4(SLC4A1):c.2026dup (p.Ile676fs)
NM_000342.4(SLC4A1):c.202G>T (p.Glu68Ter) rs13306787
NM_000342.4(SLC4A1):c.2045C>T (p.Ser682Phe)
NM_000342.4(SLC4A1):c.2057+14del
NM_000342.4(SLC4A1):c.2057+1G>A rs2047371081
NM_000342.4(SLC4A1):c.2057+1G>C rs2047371081
NM_000342.4(SLC4A1):c.2058-1G>A
NM_000342.4(SLC4A1):c.2058-4G>A
NM_000342.4(SLC4A1):c.2097C>T (p.Gly699=)
NM_000342.4(SLC4A1):c.2100del (p.Gly701fs) rs2144601728
NM_000342.4(SLC4A1):c.2101G>A (p.Gly701Ser)
NM_000342.4(SLC4A1):c.2105dup (p.His703fs)
NM_000342.4(SLC4A1):c.2111T>C (p.Leu704Pro) rs2047359576
NM_000342.4(SLC4A1):c.2116C>A (p.Leu706Met)
NM_000342.4(SLC4A1):c.2118G>A (p.Leu706=)
NM_000342.4(SLC4A1):c.2131G>C (p.Gly711Arg) rs766559569
NM_000342.4(SLC4A1):c.2135T>A (p.Met712Lys)
NM_000342.4(SLC4A1):c.2137G>C (p.Gly713Arg)
NM_000342.4(SLC4A1):c.2148C>T (p.Ala716=)
NM_000342.4(SLC4A1):c.2153T>C (p.Leu718Pro)
NM_000342.4(SLC4A1):c.2168G>C (p.Trp723Ser)
NM_000342.4(SLC4A1):c.2169G>A (p.Trp723Ter) rs2047358814
NM_000342.4(SLC4A1):c.2179A>T (p.Thr727Ser)
NM_000342.4(SLC4A1):c.217C>A (p.Leu73Met)
NM_000342.4(SLC4A1):c.2188C>A (p.Arg730Ser)
NM_000342.4(SLC4A1):c.2188C>T (p.Arg730Cys) rs770569237
NM_000342.4(SLC4A1):c.2189G>A (p.Arg730His)
NM_000342.4(SLC4A1):c.2194G>A (p.Val732Ile)
NM_000342.4(SLC4A1):c.2201A>G (p.His734Arg) rs863225462
NM_000342.4(SLC4A1):c.2214_2217del (p.Thr739fs)
NM_000342.4(SLC4A1):c.223T>C (p.Trp75Arg)
NM_000342.4(SLC4A1):c.2245G>A (p.Ala749Thr)
NM_000342.4(SLC4A1):c.224G>A (p.Trp75Ter)
NM_000342.4(SLC4A1):c.2260C>T (p.Gln754Ter) rs2144601189
NM_000342.4(SLC4A1):c.2276A>C (p.Gln759Pro)
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp) rs373916826
NM_000342.4(SLC4A1):c.2284A>C (p.Ser762Arg)
NM_000342.4(SLC4A1):c.2285G>A (p.Ser762Asn) rs2047357659
NM_000342.4(SLC4A1):c.2285G>T (p.Ser762Ile) rs2047357659
NM_000342.4(SLC4A1):c.2294T>C (p.Leu765Pro) rs1567829187
NM_000342.4(SLC4A1):c.2298C>A (p.Val766=) rs767295098
NM_000342.4(SLC4A1):c.2299delinsCA (p.Ala767fs)
NM_000342.4(SLC4A1):c.2311+1G>T
NM_000342.4(SLC4A1):c.2311+2T>C
NM_000342.4(SLC4A1):c.2312-14C>T
NM_000342.4(SLC4A1):c.2326A>G (p.Met776Val)
NM_000342.4(SLC4A1):c.2327T>G (p.Met776Arg)
NM_000342.4(SLC4A1):c.2336T>C (p.Ile779Thr)
NM_000342.4(SLC4A1):c.2344C>T (p.Arg782Cys) rs148317876
NM_000342.4(SLC4A1):c.234G>A (p.Ala78=)
NM_000342.4(SLC4A1):c.2369G>A (p.Gly790Asp)
NM_000342.4(SLC4A1):c.237G>A (p.Ala79=)
NM_000342.4(SLC4A1):c.2384del (p.Met795fs)
NM_000342.4(SLC4A1):c.2386G>A (p.Gly796Arg)
NM_000342.4(SLC4A1):c.2389G>C (p.Val797Leu)
NM_000342.4(SLC4A1):c.239G>A (p.Arg80His)
NM_000342.4(SLC4A1):c.2403C>T (p.Ser801=)
NM_000342.4(SLC4A1):c.2414T>C (p.Leu805Pro)
NM_000342.4(SLC4A1):c.2416T>C (p.Phe806Leu)
NM_000342.4(SLC4A1):c.2422C>T (p.Arg808Cys) rs1167814744
NM_000342.4(SLC4A1):c.2423G>A (p.Arg808His) rs866727908
NM_000342.4(SLC4A1):c.2442G>A (p.Lys814=)
NM_000342.4(SLC4A1):c.2450A>G (p.Lys817Arg)
NM_000342.4(SLC4A1):c.2458C>T (p.Pro820Ser)
NM_000342.4(SLC4A1):c.2475C>G (p.Val825=)
NM_000342.4(SLC4A1):c.2481+1G>A
NM_000342.4(SLC4A1):c.2481+1G>C
NM_000342.4(SLC4A1):c.2481+5A>C rs1383997291
NM_000342.4(SLC4A1):c.2481+9_2481+10delinsAA
NM_000342.4(SLC4A1):c.2482-11T>G
NM_000342.4(SLC4A1):c.2482-8G>A
NM_000342.4(SLC4A1):c.2487del (p.Thr830fs)
NM_000342.4(SLC4A1):c.2491T>C (p.Trp831Arg)
NM_000342.4(SLC4A1):c.2494C>A (p.Arg832Ser) rs571376371
NM_000342.4(SLC4A1):c.2494C>T (p.Arg832Cys)
NM_000342.4(SLC4A1):c.2495G>A (p.Arg832His)
NM_000342.4(SLC4A1):c.2501A>C (p.His834Pro) rs2144596569
NM_000342.4(SLC4A1):c.2508C>A (p.Phe836Leu) rs2144596543
NM_000342.4(SLC4A1):c.2510C>T (p.Thr837Met) rs2047337144
NM_000342.4(SLC4A1):c.2511G>A (p.Thr837=)
NM_000342.4(SLC4A1):c.2519A>G (p.Gln840Arg)
NM_000342.4(SLC4A1):c.2520G>C (p.Gln840His) rs781650676
NM_000342.4(SLC4A1):c.253GAG[1] (p.Glu86del) rs774121522
NM_000342.4(SLC4A1):c.2541G>A (p.Leu847=)
NM_000342.4(SLC4A1):c.2542T>C (p.Trp848Arg) rs754416860
NM_000342.4(SLC4A1):c.2548del (p.Val849_Val850insTer)
NM_000342.4(SLC4A1):c.2570T>C (p.Leu857Pro)
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000342.4(SLC4A1):c.2589C>T (p.Leu863=)
NM_000342.4(SLC4A1):c.2604G>A (p.Pro868=)
NM_000342.4(SLC4A1):c.2611C>T (p.Arg871Cys)
NM_000342.4(SLC4A1):c.2622_2632del (p.Pro875fs)
NM_000342.4(SLC4A1):c.2641G>A (p.Val881Met)
NM_000342.4(SLC4A1):c.2641_2647del (p.Val881fs)
NM_000342.4(SLC4A1):c.2644G>T (p.Glu882Ter)
NM_000342.4(SLC4A1):c.2652G>T (p.Gln884His)
NM_000342.4(SLC4A1):c.2655+1G>A
NM_000342.4(SLC4A1):c.2655+2_2655+3del
NM_000342.4(SLC4A1):c.2656-17C>G
NM_000342.4(SLC4A1):c.2656-7C>T
NM_000342.4(SLC4A1):c.2659G>C (p.Asp887His)
NM_000342.4(SLC4A1):c.2659_2662dup (p.Ala888fs)
NM_000342.4(SLC4A1):c.2662G>A (p.Ala888Thr)
NM_000342.4(SLC4A1):c.268del (p.Glu90fs)
NM_000342.4(SLC4A1):c.2702G>C (p.Arg901Pro) rs189300762
NM_000342.4(SLC4A1):c.2704del (p.Asp902fs)
NM_000342.4(SLC4A1):c.2705del (p.Asp902fs)
NM_000342.4(SLC4A1):c.2712C>G (p.Tyr904Ter)
NM_000342.4(SLC4A1):c.2713G>A (p.Asp905Asn)
NM_000342.4(SLC4A1):c.2713G>C (p.Asp905His) rs776130740
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.2717A>T (p.Glu906Val)
NM_000342.4(SLC4A1):c.2718del (p.Val907fs)
NM_000342.4(SLC4A1):c.2726T>C (p.Met909Thr) rs2047328405
NM_000342.4(SLC4A1):c.2730T>C (p.Pro910=)
NM_000342.4(SLC4A1):c.2735G>A (p.Ter912=)
NM_000342.4(SLC4A1):c.277G>A (p.Ala93Thr)
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.287G>A (p.Arg96His)
NM_000342.4(SLC4A1):c.291G>A (p.Pro97=)
NM_000342.4(SLC4A1):c.331C>G (p.Arg111Gly)
NM_000342.4(SLC4A1):c.331C>T (p.Arg111Cys)
NM_000342.4(SLC4A1):c.339del (p.Phe114fs)
NM_000342.4(SLC4A1):c.345_346insT (p.Lys116Ter)
NM_000342.4(SLC4A1):c.349+11T>C
NM_000342.4(SLC4A1):c.349+1G>A rs1567834739
NM_000342.4(SLC4A1):c.349+1G>C
NM_000342.4(SLC4A1):c.349+2T>C
NM_000342.4(SLC4A1):c.349+5G>A
NM_000342.4(SLC4A1):c.349+9C>T
NM_000342.4(SLC4A1):c.350-11A>G
NM_000342.4(SLC4A1):c.354T>C (p.Thr118=)
NM_000342.4(SLC4A1):c.365A>G (p.Asp122Gly)
NM_000342.4(SLC4A1):c.375G>A (p.Glu125=)
NM_000342.4(SLC4A1):c.37G>T (p.Glu13Ter) rs2144625139
NM_000342.4(SLC4A1):c.389G>C (p.Gly130Ala)
NM_000342.4(SLC4A1):c.403C>T (p.Leu135=)
NM_000342.4(SLC4A1):c.407_408del (p.Leu136fs)
NM_000342.4(SLC4A1):c.421T>C (p.Phe141Leu)
NM_000342.4(SLC4A1):c.432G>T (p.Gln144His)
NM_000342.4(SLC4A1):c.437G>A (p.Arg146Gln)
NM_000342.4(SLC4A1):c.449G>A (p.Arg150Gln)
NM_000342.4(SLC4A1):c.463C>T (p.Arg155Trp)
NM_000342.4(SLC4A1):c.485+17G>A
NM_000342.4(SLC4A1):c.485+4C>T
NM_000342.4(SLC4A1):c.486-11A>G
NM_000342.4(SLC4A1):c.486-4G>A
NM_000342.4(SLC4A1):c.489C>T (p.His163=)
NM_000342.4(SLC4A1):c.494G>A (p.Gly165Glu)
NM_000342.4(SLC4A1):c.515G>T (p.Gly172Val)
NM_000342.4(SLC4A1):c.515del (p.Gly172fs)
NM_000342.4(SLC4A1):c.515dup (p.Val173fs) rs1598301457
NM_000342.4(SLC4A1):c.547G>A (p.Asp183Asn)
NM_000342.4(SLC4A1):c.554C>G (p.Ser185Ter)
NM_000342.4(SLC4A1):c.556C>T (p.Gln186Ter)
NM_000342.4(SLC4A1):c.569_579del (p.Pro190fs) rs1057518222
NM_000342.4(SLC4A1):c.570C>G (p.Pro190=)
NM_000342.4(SLC4A1):c.571C>G (p.Gln191Glu)
NM_000342.4(SLC4A1):c.571dup (p.Gln191fs)
NM_000342.4(SLC4A1):c.574C>T (p.His192Tyr)
NM_000342.4(SLC4A1):c.588G>A (p.Glu196=)
NM_000342.4(SLC4A1):c.609+16G>A
NM_000342.4(SLC4A1):c.609+17G>A
NM_000342.4(SLC4A1):c.609+1G>A rs1362663440
NM_000342.4(SLC4A1):c.610-106dup rs45538331
NM_000342.4(SLC4A1):c.610-107C>G rs1014590420
NM_000342.4(SLC4A1):c.610-3C>T
NM_000342.4(SLC4A1):c.639A>C (p.Pro213=)
NM_000342.4(SLC4A1):c.655A>G (p.Lys219Glu)
NM_000342.4(SLC4A1):c.659T>C (p.Ile220Thr)
NM_000342.4(SLC4A1):c.681G>A (p.Thr227=)
NM_000342.4(SLC4A1):c.685G>A (p.Val229Met)
NM_000342.4(SLC4A1):c.689T>C (p.Leu230Pro)
NM_000342.4(SLC4A1):c.691G>C (p.Val231Leu) rs1375641608
NM_000342.4(SLC4A1):c.691G>T (p.Val231Leu)
NM_000342.4(SLC4A1):c.694+10G>A
NM_000342.4(SLC4A1):c.694+11G>A
NM_000342.4(SLC4A1):c.694+1G>T
NM_000342.4(SLC4A1):c.695-11T>C
NM_000342.4(SLC4A1):c.695-2A>G
NM_000342.4(SLC4A1):c.695-34_695-3del
NM_000342.4(SLC4A1):c.695-8C>A
NM_000342.4(SLC4A1):c.698G>A (p.Arg233His) rs369164512
NM_000342.4(SLC4A1):c.699_703del (p.Ala234fs) rs2047420220
NM_000342.4(SLC4A1):c.700G>A (p.Ala234Thr)
NM_000342.4(SLC4A1):c.702C>T (p.Ala234=)
NM_000342.4(SLC4A1):c.716A>T (p.Gln239Leu)
NM_000342.4(SLC4A1):c.732C>T (p.Phe244=)
NM_000342.4(SLC4A1):c.733G>A (p.Val245Met) rs148170067
NM_000342.4(SLC4A1):c.753G>A (p.Ala251=)
NM_000342.4(SLC4A1):c.753_757dup (p.Leu253fs)
NM_000342.4(SLC4A1):c.754G>T (p.Glu252Ter)
NM_000342.4(SLC4A1):c.765G>C (p.Ala255=) rs144835638
NM_000342.4(SLC4A1):c.772C>A (p.Leu258Met)
NM_000342.4(SLC4A1):c.776C>T (p.Pro259Leu)
NM_000342.4(SLC4A1):c.777G>A (p.Pro259=)
NM_000342.4(SLC4A1):c.778del (p.Val260fs)
NM_000342.4(SLC4A1):c.782_789dup (p.Phe264fs)
NM_000342.4(SLC4A1):c.788G>A (p.Arg263His)
NM_000342.4(SLC4A1):c.799del (p.Val267fs) rs2144616948
NM_000342.4(SLC4A1):c.823C>A (p.His275Asn)
NM_000342.4(SLC4A1):c.823C>G (p.His275Asp)
NM_000342.4(SLC4A1):c.823del (p.His275fs)
NM_000342.4(SLC4A1):c.823dup (p.His275fs)
NM_000342.4(SLC4A1):c.82G>A (p.Glu28Lys)
NM_000342.4(SLC4A1):c.853G>T (p.Ala285Ser)
NM_000342.4(SLC4A1):c.85T>G (p.Ser29Ala)
NM_000342.4(SLC4A1):c.866T>A (p.Met289Lys)
NM_000342.4(SLC4A1):c.866T>C (p.Met289Thr)
NM_000342.4(SLC4A1):c.866dup (p.Met289fs)
NM_000342.4(SLC4A1):c.876+13C>T
NM_000342.4(SLC4A1):c.876+1G>A rs1555596483
NM_000342.4(SLC4A1):c.876+5G>A
NM_000342.4(SLC4A1):c.877-2A>G
NM_000342.4(SLC4A1):c.877G>A (p.Val293Met)
NM_000342.4(SLC4A1):c.88C>T (p.Gln30Ter)
NM_000342.4(SLC4A1):c.890A>G (p.Asp297Gly) rs2047412306
NM_000342.4(SLC4A1):c.891dup (p.Ala298fs)
NM_000342.4(SLC4A1):c.904C>G (p.Gln302Glu)
NM_000342.4(SLC4A1):c.910C>T (p.Arg304Ter)
NM_000342.4(SLC4A1):c.911G>A (p.Arg304Gln) rs777464599
NM_000342.4(SLC4A1):c.92T>C (p.Met31Thr) rs55773290
NM_000342.4(SLC4A1):c.92T>G (p.Met31Arg)
NM_000342.4(SLC4A1):c.930C>G (p.Ser310=) rs1434971549
NM_000342.4(SLC4A1):c.933A>G (p.Leu311=)
NM_000342.4(SLC4A1):c.955C>T (p.Leu319=)
NM_000342.4(SLC4A1):c.978C>T (p.Ala326=)
NM_000342.4(SLC4A1):c.981C>G (p.Pro327=) rs2144615310
NM_000342.4(SLC4A1):c.984C>T (p.Ser328=)
NM_000342.4(SLC4A1):c.985G>T (p.Glu329Ter)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.