Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.71451179C>ACA2670935257SLC4A4c.1305-9C>A (n.1305-9C>A)
c.1209-9C>A (n.1209-9C>A)
c.1077-9C>A (n.1077-9C>A)
n.1138-9C>A
c.651-9C>A (n.651-9C>A)
c.984-9C>A (n.984-9C>A)
c.693-9C>A (n.693-9C>A)
c.1302-9C>A (n.1302-9C>A)
c.1224-9C>A (n.1224-9C>A)
 gnomAD v4
4g.71451179C=CA1467213145SLC4A4c.1305-9C= (n.1305-9C=)
c.1209-9C= (n.1209-9C=)
c.1077-9C= (n.1077-9C=)
n.1138-9C=
c.651-9C= (n.651-9C=)
c.984-9C= (n.984-9C=)
c.693-9C= (n.693-9C=)
c.1302-9C= (n.1302-9C=)
c.1224-9C= (n.1224-9C=)
4g.71451179C>GCA552454066SLC4A4c.1305-9C>G (n.1305-9C>G)
c.1209-9C>G (n.1209-9C>G)
c.1077-9C>G (n.1077-9C>G)
n.1138-9C>G
c.651-9C>G (n.651-9C>G)
c.984-9C>G (n.984-9C>G)
c.693-9C>G (n.693-9C>G)
c.1302-9C>G (n.1302-9C>G)
c.1224-9C>G (n.1224-9C>G)
 dbSNP gnomAD v2 gnomAD v4
4g.71451182G>CCA2670935258SLC4A4c.1305-6G>C (n.1305-6G>C)
c.1209-6G>C (n.1209-6G>C)
c.1077-6G>C (n.1077-6G>C)
n.1138-6G>C
c.651-6G>C (n.651-6G>C)
c.984-6G>C (n.984-6G>C)
c.693-6G>C (n.693-6G>C)
c.1302-6G>C (n.1302-6G>C)
c.1224-6G>C (n.1224-6G>C)
 gnomAD v4
4g.71451182G>TCA2670935259SLC4A4c.1305-6G>T (n.1305-6G>T)
c.1209-6G>T (n.1209-6G>T)
c.1077-6G>T (n.1077-6G>T)
n.1138-6G>T
c.651-6G>T (n.651-6G>T)
c.984-6G>T (n.984-6G>T)
c.693-6G>T (n.693-6G>T)
c.1302-6G>T (n.1302-6G>T)
c.1224-6G>T (n.1224-6G>T)
 gnomAD v4
4g.71451183C>ACA2670935260SLC4A4c.1305-5C>A (n.1305-5C>A)
c.1209-5C>A (n.1209-5C>A)
c.1077-5C>A (n.1077-5C>A)
n.1138-5C>A
c.651-5C>A (n.651-5C>A)
c.984-5C>A (n.984-5C>A)
c.693-5C>A (n.693-5C>A)
c.1302-5C>A (n.1302-5C>A)
c.1224-5C>A (n.1224-5C>A)
 gnomAD v4
4g.71451183C=CA1467213151SLC4A4c.1305-5C= (n.1305-5C=)
c.1209-5C= (n.1209-5C=)
c.1077-5C= (n.1077-5C=)
n.1138-5C=
c.651-5C= (n.651-5C=)
c.984-5C= (n.984-5C=)
c.693-5C= (n.693-5C=)
c.1302-5C= (n.1302-5C=)
c.1224-5C= (n.1224-5C=)
4g.71451183C>TCA798078111SLC4A4c.1305-5C>T (n.1305-5C>T)
c.1209-5C>T (n.1209-5C>T)
c.1077-5C>T (n.1077-5C>T)
n.1138-5C>T
c.651-5C>T (n.651-5C>T)
c.984-5C>T (n.984-5C>T)
c.693-5C>T (n.693-5C>T)
c.1302-5C>T (n.1302-5C>T)
c.1224-5C>T (n.1224-5C>T)
 dbSNP
4g.71451185T>CCA798078112SLC4A4c.1305-3T>C (n.1305-3T>C)
c.1209-3T>C (n.1209-3T>C)
c.1077-3T>C (n.1077-3T>C)
n.1138-3T>C
c.651-3T>C (n.651-3T>C)
c.984-3T>C (n.984-3T>C)
c.693-3T>C (n.693-3T>C)
c.1302-3T>C (n.1302-3T>C)
c.1224-3T>C (n.1224-3T>C)
 dbSNP
4g.71451185T=CA1467213154SLC4A4c.1305-3T= (n.1305-3T=)
c.1209-3T= (n.1209-3T=)
c.1077-3T= (n.1077-3T=)
n.1138-3T=
c.651-3T= (n.651-3T=)
c.984-3T= (n.984-3T=)
c.693-3T= (n.693-3T=)
c.1302-3T= (n.1302-3T=)
c.1224-3T= (n.1224-3T=)
4g.71451186A>CCA357418230SLC4A4c.1305-2A>C (n.1305-2A>C)
c.1209-2A>C (n.1209-2A>C)
c.1077-2A>C (n.1077-2A>C)
n.1138-2A>C
c.651-2A>C (n.651-2A>C)
c.984-2A>C (n.984-2A>C)
c.693-2A>C (n.693-2A>C)
c.1302-2A>C (n.1302-2A>C)
c.1224-2A>C (n.1224-2A>C)
4g.71451186A>GCA357418231SLC4A4c.1305-2A>G (n.1305-2A>G)
c.1209-2A>G (n.1209-2A>G)
c.1077-2A>G (n.1077-2A>G)
n.1138-2A>G
c.651-2A>G (n.651-2A>G)
c.984-2A>G (n.984-2A>G)
c.693-2A>G (n.693-2A>G)
c.1302-2A>G (n.1302-2A>G)
c.1224-2A>G (n.1224-2A>G)
 gnomAD v4
4g.71451186A>TCA357418229SLC4A4c.1305-2A>T (n.1305-2A>T)
c.1209-2A>T (n.1209-2A>T)
c.1077-2A>T (n.1077-2A>T)
n.1138-2A>T
c.651-2A>T (n.651-2A>T)
c.984-2A>T (n.984-2A>T)
c.693-2A>T (n.693-2A>T)
c.1302-2A>T (n.1302-2A>T)
c.1224-2A>T (n.1224-2A>T)
4g.71451187G>ACA357418234SLC4A4c.1305-1G>A (n.1305-1G>A)
c.1209-1G>A (n.1209-1G>A)
c.1077-1G>A (n.1077-1G>A)
n.1138-1G>A
c.651-1G>A (n.651-1G>A)
c.984-1G>A (n.984-1G>A)
c.693-1G>A (n.693-1G>A)
c.1302-1G>A (n.1302-1G>A)
c.1224-1G>A (n.1224-1G>A)
4g.71451187G>CCA357418232SLC4A4c.1305-1G>C (n.1305-1G>C)
c.1209-1G>C (n.1209-1G>C)
c.1077-1G>C (n.1077-1G>C)
n.1138-1G>C
c.651-1G>C (n.651-1G>C)
c.984-1G>C (n.984-1G>C)
c.693-1G>C (n.693-1G>C)
c.1302-1G>C (n.1302-1G>C)
c.1224-1G>C (n.1224-1G>C)
4g.71451187G>TCA357418233SLC4A4c.1305-1G>T (n.1305-1G>T)
c.1209-1G>T (n.1209-1G>T)
c.1077-1G>T (n.1077-1G>T)
n.1138-1G>T
c.651-1G>T (n.651-1G>T)
c.984-1G>T (n.984-1G>T)
c.693-1G>T (n.693-1G>T)
c.1302-1G>T (n.1302-1G>T)
c.1224-1G>T (n.1224-1G>T)
4g.71451188A>CCA357418235SLC4A4c.1305A>C (p.Arg435Ser)
c.1209A>C (p.Arg403Ser)
c.1077A>C (p.Arg359Ser)
n.1138A>C
c.651A>C (p.Arg217Ser)
c.984A>C (p.Arg328Ser)
c.693A>C (p.Arg231Ser)
c.1302A>C (p.Arg434Ser)
c.1224A>C (p.Arg408Ser)
4g.71451188A>GCA439875612SLC4A4c.1305A>G (p.Arg435=)
c.1209A>G (p.Arg403=)
c.1077A>G (p.Arg359=)
n.1138A>G
c.651A>G (p.Arg217=)
c.984A>G (p.Arg328=)
c.693A>G (p.Arg231=)
c.1302A>G (p.Arg434=)
c.1224A>G (p.Arg408=)
 dbSNP gnomAD v4
4g.71451188A>TCA357418236SLC4A4c.1305A>T (p.Arg435Ser)
c.1209A>T (p.Arg403Ser)
c.1077A>T (p.Arg359Ser)
n.1138A>T
c.651A>T (p.Arg217Ser)
c.984A>T (p.Arg328Ser)
c.693A>T (p.Arg231Ser)
c.1302A>T (p.Arg434Ser)
c.1224A>T (p.Arg408Ser)
4g.71451189A>CCA357418237SLC4A4c.1306A>C (p.Lys436Gln)
c.1210A>C (p.Lys404Gln)
c.1078A>C (p.Lys360Gln)
n.1139A>C
c.652A>C (p.Lys218Gln)
c.985A>C (p.Lys329Gln)
c.694A>C (p.Lys232Gln)
c.1303A>C (p.Lys435Gln)
c.1225A>C (p.Lys409Gln)
4g.71451189A>GCA357418238SLC4A4c.1306A>G (p.Lys436Glu)
c.1210A>G (p.Lys404Glu)
c.1078A>G (p.Lys360Glu)
n.1139A>G
c.652A>G (p.Lys218Glu)
c.985A>G (p.Lys329Glu)
c.694A>G (p.Lys232Glu)
c.1303A>G (p.Lys435Glu)
c.1225A>G (p.Lys409Glu)
 gnomAD v4
4g.71451189A>TCA357418239SLC4A4c.1306A>T (p.Lys436Ter)
c.1210A>T (p.Lys404Ter)
c.1078A>T (p.Lys360Ter)
n.1139A>T
c.652A>T (p.Lys218Ter)
c.985A>T (p.Lys329Ter)
c.694A>T (p.Lys232Ter)
c.1303A>T (p.Lys435Ter)
c.1225A>T (p.Lys409Ter)
4g.71451190A>CCA357418242SLC4A4c.1307A>C (p.Lys436Thr)
c.1211A>C (p.Lys404Thr)
c.1079A>C (p.Lys360Thr)
n.1140A>C
c.653A>C (p.Lys218Thr)
c.986A>C (p.Lys329Thr)
c.695A>C (p.Lys232Thr)
c.1304A>C (p.Lys435Thr)
c.1226A>C (p.Lys409Thr)
4g.71451190A>GCA357418240SLC4A4c.1307A>G (p.Lys436Arg)
c.1211A>G (p.Lys404Arg)
c.1079A>G (p.Lys360Arg)
n.1140A>G
c.653A>G (p.Lys218Arg)
c.986A>G (p.Lys329Arg)
c.695A>G (p.Lys232Arg)
c.1304A>G (p.Lys435Arg)
c.1226A>G (p.Lys409Arg)
4g.71451190A>TCA357418241SLC4A4c.1307A>T (p.Lys436Met)
c.1211A>T (p.Lys404Met)
c.1079A>T (p.Lys360Met)
n.1140A>T
c.653A>T (p.Lys218Met)
c.986A>T (p.Lys329Met)
c.695A>T (p.Lys232Met)
c.1304A>T (p.Lys435Met)
c.1226A>T (p.Lys409Met)
4g.71451191G>ACA439875613SLC4A4c.1308G>A (p.Lys436=)
c.1212G>A (p.Lys404=)
c.1080G>A (p.Lys360=)
n.1141G>A
c.654G>A (p.Lys218=)
c.987G>A (p.Lys329=)
c.696G>A (p.Lys232=)
c.1305G>A (p.Lys435=)
c.1227G>A (p.Lys409=)
 gnomAD v4
4g.71451191G>CCA357418243SLC4A4c.1308G>C (p.Lys436Asn)
c.1212G>C (p.Lys404Asn)
c.1080G>C (p.Lys360Asn)
n.1141G>C
c.654G>C (p.Lys218Asn)
c.987G>C (p.Lys329Asn)
c.696G>C (p.Lys232Asn)
c.1305G>C (p.Lys435Asn)
c.1227G>C (p.Lys409Asn)
4g.71451191G>TCA357418244SLC4A4c.1308G>T (p.Lys436Asn)
c.1212G>T (p.Lys404Asn)
c.1080G>T (p.Lys360Asn)
n.1141G>T
c.654G>T (p.Lys218Asn)
c.987G>T (p.Lys329Asn)
c.696G>T (p.Lys232Asn)
c.1305G>T (p.Lys435Asn)
c.1227G>T (p.Lys409Asn)
 COSMIC COSMIC
4g.71451192A>CCA357418245SLC4A4c.1309A>C (p.Asn437His)
c.1213A>C (p.Asn405His)
c.1081A>C (p.Asn361His)
n.1142A>C
c.655A>C (p.Asn219His)
c.988A>C (p.Asn330His)
c.697A>C (p.Asn233His)
c.1306A>C (p.Asn436His)
c.1228A>C (p.Asn410His)
4g.71451192A>GCA357418246SLC4A4c.1309A>G (p.Asn437Asp)
c.1213A>G (p.Asn405Asp)
c.1081A>G (p.Asn361Asp)
n.1142A>G
c.655A>G (p.Asn219Asp)
c.988A>G (p.Asn330Asp)
c.697A>G (p.Asn233Asp)
c.1306A>G (p.Asn436Asp)
c.1228A>G (p.Asn410Asp)
 gnomAD v4
4g.71451192A>TCA357418247SLC4A4c.1309A>T (p.Asn437Tyr)
c.1213A>T (p.Asn405Tyr)
c.1081A>T (p.Asn361Tyr)
n.1142A>T
c.655A>T (p.Asn219Tyr)
c.988A>T (p.Asn330Tyr)
c.697A>T (p.Asn233Tyr)
c.1306A>T (p.Asn436Tyr)
c.1228A>T (p.Asn410Tyr)
4g.71451193A=CA1467213158SLC4A4c.1310A= (p.Asn437=)
c.1214A= (p.Asn405=)
c.1082A= (p.Asn361=)
n.1143A=
c.656A= (p.Asn219=)
c.989A= (p.Asn330=)
c.698A= (p.Asn233=)
c.1307A= (p.Asn436=)
c.1229A= (p.Asn410=)
4g.71451193A>CCA357418248SLC4A4c.1310A>C (p.Asn437Thr)
c.1214A>C (p.Asn405Thr)
c.1082A>C (p.Asn361Thr)
n.1143A>C
c.656A>C (p.Asn219Thr)
c.989A>C (p.Asn330Thr)
c.698A>C (p.Asn233Thr)
c.1307A>C (p.Asn436Thr)
c.1229A>C (p.Asn410Thr)
 gnomAD v4
4g.71451193A>GCA357418250SLC4A4c.1310A>G (p.Asn437Ser)
c.1214A>G (p.Asn405Ser)
c.1082A>G (p.Asn361Ser)
n.1143A>G
c.656A>G (p.Asn219Ser)
c.989A>G (p.Asn330Ser)
c.698A>G (p.Asn233Ser)
c.1307A>G (p.Asn436Ser)
c.1229A>G (p.Asn410Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.71451193A>TCA357418249SLC4A4c.1310A>T (p.Asn437Ile)
c.1214A>T (p.Asn405Ile)
c.1082A>T (p.Asn361Ile)
n.1143A>T
c.656A>T (p.Asn219Ile)
c.989A>T (p.Asn330Ile)
c.698A>T (p.Asn233Ile)
c.1307A>T (p.Asn436Ile)
c.1229A>T (p.Asn410Ile)
4g.71451194T>ACA357418251SLC4A4c.1311T>A (p.Asn437Lys)
c.1215T>A (p.Asn405Lys)
c.1083T>A (p.Asn361Lys)
n.1144T>A
c.657T>A (p.Asn219Lys)
c.990T>A (p.Asn330Lys)
c.699T>A (p.Asn233Lys)
c.1308T>A (p.Asn436Lys)
c.1230T>A (p.Asn410Lys)
4g.71451194T>CCA439875614SLC4A4c.1311T>C (p.Asn437=)
c.1215T>C (p.Asn405=)
c.1083T>C (p.Asn361=)
n.1144T>C
c.657T>C (p.Asn219=)
c.990T>C (p.Asn330=)
c.699T>C (p.Asn233=)
c.1308T>C (p.Asn436=)
c.1230T>C (p.Asn410=)
4g.71451194T>GCA357418252SLC4A4c.1311T>G (p.Asn437Lys)
c.1215T>G (p.Asn405Lys)
c.1083T>G (p.Asn361Lys)
n.1144T>G
c.657T>G (p.Asn219Lys)
c.990T>G (p.Asn330Lys)
c.699T>G (p.Asn233Lys)
c.1308T>G (p.Asn436Lys)
c.1230T>G (p.Asn410Lys)
4g.71451195A=CA1467213166SLC4A4c.1312A= (p.Met438=)
c.1216A= (p.Met406=)
c.1084A= (p.Met362=)
n.1145A=
c.658A= (p.Met220=)
c.991A= (p.Met331=)
c.700A= (p.Met234=)
c.1309A= (p.Met437=)
c.1231A= (p.Met411=)
4g.71451195A>CCA357418253SLC4A4c.1312A>C (p.Met438Leu)
c.1216A>C (p.Met406Leu)
c.1084A>C (p.Met362Leu)
n.1145A>C
c.658A>C (p.Met220Leu)
c.991A>C (p.Met331Leu)
c.700A>C (p.Met234Leu)
c.1309A>C (p.Met437Leu)
c.1231A>C (p.Met411Leu)
4g.71451195A>GCA357418254SLC4A4c.1312A>G (p.Met438Val)
c.1216A>G (p.Met406Val)
c.1084A>G (p.Met362Val)
n.1145A>G
c.658A>G (p.Met220Val)
c.991A>G (p.Met331Val)
c.700A>G (p.Met234Val)
c.1309A>G (p.Met437Val)
c.1231A>G (p.Met411Val)
4g.71451195A>TCA357418255SLC4A4c.1312A>T (p.Met438Leu)
c.1216A>T (p.Met406Leu)
c.1084A>T (p.Met362Leu)
n.1145A>T
c.658A>T (p.Met220Leu)
c.991A>T (p.Met331Leu)
c.700A>T (p.Met234Leu)
c.1309A>T (p.Met437Leu)
c.1231A>T (p.Met411Leu)
 dbSNP
4g.71451196T>ACA357418256SLC4A4c.1313T>A (p.Met438Lys)
c.1217T>A (p.Met406Lys)
c.1085T>A (p.Met362Lys)
n.1146T>A
c.659T>A (p.Met220Lys)
c.992T>A (p.Met331Lys)
c.701T>A (p.Met234Lys)
c.1310T>A (p.Met437Lys)
c.1232T>A (p.Met411Lys)
4g.71451196T>CCA357418257SLC4A4c.1313T>C (p.Met438Thr)
c.1217T>C (p.Met406Thr)
c.1085T>C (p.Met362Thr)
n.1146T>C
c.659T>C (p.Met220Thr)
c.992T>C (p.Met331Thr)
c.701T>C (p.Met234Thr)
c.1310T>C (p.Met437Thr)
c.1232T>C (p.Met411Thr)
4g.71451196T>GCA357418258SLC4A4c.1313T>G (p.Met438Arg)
c.1217T>G (p.Met406Arg)
c.1085T>G (p.Met362Arg)
n.1146T>G
c.659T>G (p.Met220Arg)
c.992T>G (p.Met331Arg)
c.701T>G (p.Met234Arg)
c.1310T>G (p.Met437Arg)
c.1232T>G (p.Met411Arg)
4g.71451197G>ACA357418259SLC4A4c.1314G>A (p.Met438Ile)
c.1218G>A (p.Met406Ile)
c.1086G>A (p.Met362Ile)
n.1147G>A
c.660G>A (p.Met220Ile)
c.993G>A (p.Met331Ile)
c.702G>A (p.Met234Ile)
c.1311G>A (p.Met437Ile)
c.1233G>A (p.Met411Ile)
 dbSNP gnomAD v2 gnomAD v4
4g.71451197G>CCA357418260SLC4A4c.1314G>C (p.Met438Ile)
c.1218G>C (p.Met406Ile)
c.1086G>C (p.Met362Ile)
n.1147G>C
c.660G>C (p.Met220Ile)
c.993G>C (p.Met331Ile)
c.702G>C (p.Met234Ile)
c.1311G>C (p.Met437Ile)
c.1233G>C (p.Met411Ile)
4g.71451197G=CA1467213173SLC4A4c.1314G= (p.Met438=)
c.1218G= (p.Met406=)
c.1086G= (p.Met362=)
n.1147G=
c.660G= (p.Met220=)
c.993G= (p.Met331=)
c.702G= (p.Met234=)
c.1311G= (p.Met437=)
c.1233G= (p.Met411=)
4g.71451197G>TCA2954767SLC4A4c.1314G>T (p.Met438Ile)
c.1218G>T (p.Met406Ile)
c.1086G>T (p.Met362Ile)
n.1147G>T
c.660G>T (p.Met220Ile)
c.993G>T (p.Met331Ile)
c.702G>T (p.Met234Ile)
c.1311G>T (p.Met437Ile)
c.1233G>T (p.Met411Ile)
 dbSNP ExAC gnomAD v3 gnomAD v4
4g.71451198T>ACA357418261SLC4A4c.1315T>A (p.Tyr439Asn)
c.1219T>A (p.Tyr407Asn)
c.1087T>A (p.Tyr363Asn)
n.1148T>A
c.661T>A (p.Tyr221Asn)
c.994T>A (p.Tyr332Asn)
c.703T>A (p.Tyr235Asn)
c.1312T>A (p.Tyr438Asn)
c.1234T>A (p.Tyr412Asn)
4g.71451198T>CCA357418263SLC4A4c.1315T>C (p.Tyr439His)
c.1219T>C (p.Tyr407His)
c.1087T>C (p.Tyr363His)
n.1148T>C
c.661T>C (p.Tyr221His)
c.994T>C (p.Tyr332His)
c.703T>C (p.Tyr235His)
c.1312T>C (p.Tyr438His)
c.1234T>C (p.Tyr412His)
 gnomAD v4
4g.71451198T>GCA357418262SLC4A4c.1315T>G (p.Tyr439Asp)
c.1219T>G (p.Tyr407Asp)
c.1087T>G (p.Tyr363Asp)
n.1148T>G
c.661T>G (p.Tyr221Asp)
c.994T>G (p.Tyr332Asp)
c.703T>G (p.Tyr235Asp)
c.1312T>G (p.Tyr438Asp)
c.1234T>G (p.Tyr412Asp)
4g.71451199A>CCA357418264SLC4A4c.1316A>C (p.Tyr439Ser)
c.1220A>C (p.Tyr407Ser)
c.1088A>C (p.Tyr363Ser)
n.1149A>C
c.662A>C (p.Tyr221Ser)
c.995A>C (p.Tyr332Ser)
c.704A>C (p.Tyr235Ser)
c.1313A>C (p.Tyr438Ser)
c.1235A>C (p.Tyr412Ser)
4g.71451199A>GCA357418265SLC4A4c.1316A>G (p.Tyr439Cys)
c.1220A>G (p.Tyr407Cys)
c.1088A>G (p.Tyr363Cys)
n.1149A>G
c.662A>G (p.Tyr221Cys)
c.995A>G (p.Tyr332Cys)
c.704A>G (p.Tyr235Cys)
c.1313A>G (p.Tyr438Cys)
c.1235A>G (p.Tyr412Cys)
4g.71451199A>TCA357418266SLC4A4c.1316A>T (p.Tyr439Phe)
c.1220A>T (p.Tyr407Phe)
c.1088A>T (p.Tyr363Phe)
n.1149A>T
c.662A>T (p.Tyr221Phe)
c.995A>T (p.Tyr332Phe)
c.704A>T (p.Tyr235Phe)
c.1313A>T (p.Tyr438Phe)
c.1235A>T (p.Tyr412Phe)
4g.71451200C>ACA357418267SLC4A4c.1317C>A (p.Tyr439Ter)
c.1221C>A (p.Tyr407Ter)
c.1089C>A (p.Tyr363Ter)
n.1150C>A
c.663C>A (p.Tyr221Ter)
c.996C>A (p.Tyr332Ter)
c.705C>A (p.Tyr235Ter)
c.1314C>A (p.Tyr438Ter)
c.1236C>A (p.Tyr412Ter)
 gnomAD v4 COSMIC COSMIC
4g.71451200C=CA1467213180SLC4A4c.1317C= (p.Tyr439=)
c.1221C= (p.Tyr407=)
c.1089C= (p.Tyr363=)
n.1150C=
c.663C= (p.Tyr221=)
c.996C= (p.Tyr332=)
c.705C= (p.Tyr235=)
c.1314C= (p.Tyr438=)
c.1236C= (p.Tyr412=)
4g.71451200C>GCA357418268SLC4A4c.1317C>G (p.Tyr439Ter)
c.1221C>G (p.Tyr407Ter)
c.1089C>G (p.Tyr363Ter)
n.1150C>G
c.663C>G (p.Tyr221Ter)
c.996C>G (p.Tyr332Ter)
c.705C>G (p.Tyr235Ter)
c.1314C>G (p.Tyr438Ter)
c.1236C>G (p.Tyr412Ter)
4g.71451200C>TCA2954768SLC4A4c.1317C>T (p.Tyr439=)
c.1221C>T (p.Tyr407=)
c.1089C>T (p.Tyr363=)
n.1150C>T
c.663C>T (p.Tyr221=)
c.996C>T (p.Tyr332=)
c.705C>T (p.Tyr235=)
c.1314C>T (p.Tyr438=)
c.1236C>T (p.Tyr412=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.71451201T>ACA357418269SLC4A4c.1318T>A (p.Ser440Thr)
c.1222T>A (p.Ser408Thr)
c.1090T>A (p.Ser364Thr)
n.1151T>A
c.664T>A (p.Ser222Thr)
c.997T>A (p.Ser333Thr)
c.706T>A (p.Ser236Thr)
c.1315T>A (p.Ser439Thr)
c.1237T>A (p.Ser413Thr)
4g.71451201T>CCA357418270SLC4A4c.1318T>C (p.Ser440Pro)
c.1222T>C (p.Ser408Pro)
c.1090T>C (p.Ser364Pro)
n.1151T>C
c.664T>C (p.Ser222Pro)
c.997T>C (p.Ser333Pro)
c.706T>C (p.Ser236Pro)
c.1315T>C (p.Ser439Pro)
c.1237T>C (p.Ser413Pro)
4g.71451201T>GCA2954769SLC4A4c.1318T>G (p.Ser440Ala)
c.1222T>G (p.Ser408Ala)
c.1090T>G (p.Ser364Ala)
n.1151T>G
c.664T>G (p.Ser222Ala)
c.997T>G (p.Ser333Ala)
c.706T>G (p.Ser236Ala)
c.1315T>G (p.Ser439Ala)
c.1237T>G (p.Ser413Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.71451201T=CA1467213186SLC4A4c.1318T= (p.Ser440=)
c.1222T= (p.Ser408=)
c.1090T= (p.Ser364=)
n.1151T=
c.664T= (p.Ser222=)
c.997T= (p.Ser333=)
c.706T= (p.Ser236=)
c.1315T= (p.Ser439=)
c.1237T= (p.Ser413=)
4g.71451202C>ACA357418271SLC4A4c.1319C>A (p.Ser440Ter)
c.1223C>A (p.Ser408Ter)
c.1091C>A (p.Ser364Ter)
n.1152C>A
c.665C>A (p.Ser222Ter)
c.998C>A (p.Ser333Ter)
c.707C>A (p.Ser236Ter)
c.1316C>A (p.Ser439Ter)
c.1238C>A (p.Ser413Ter)
 gnomAD v4
4g.71451202C>GCA357418272SLC4A4c.1319C>G (p.Ser440Ter)
c.1223C>G (p.Ser408Ter)
c.1091C>G (p.Ser364Ter)
n.1152C>G
c.665C>G (p.Ser222Ter)
c.998C>G (p.Ser333Ter)
c.707C>G (p.Ser236Ter)
c.1316C>G (p.Ser439Ter)
c.1238C>G (p.Ser413Ter)
4g.71451202C>TCA357418273SLC4A4c.1319C>T (p.Ser440Leu)
c.1223C>T (p.Ser408Leu)
c.1091C>T (p.Ser364Leu)
n.1152C>T
c.665C>T (p.Ser222Leu)
c.998C>T (p.Ser333Leu)
c.707C>T (p.Ser236Leu)
c.1316C>T (p.Ser439Leu)
c.1238C>T (p.Ser413Leu)
4g.71451203A>CCA439875615SLC4A4c.1320A>C (p.Ser440=)
c.1224A>C (p.Ser408=)
c.1092A>C (p.Ser364=)
n.1153A>C
c.666A>C (p.Ser222=)
c.999A>C (p.Ser333=)
c.708A>C (p.Ser236=)
c.1317A>C (p.Ser439=)
c.1239A>C (p.Ser413=)
4g.71451203A>GCA439875616SLC4A4c.1320A>G (p.Ser440=)
c.1224A>G (p.Ser408=)
c.1092A>G (p.Ser364=)
n.1153A>G
c.666A>G (p.Ser222=)
c.999A>G (p.Ser333=)
c.708A>G (p.Ser236=)
c.1317A>G (p.Ser439=)
c.1239A>G (p.Ser413=)
 gnomAD v4
4g.71451203A>TCA439875617SLC4A4c.1320A>T (p.Ser440=)
c.1224A>T (p.Ser408=)
c.1092A>T (p.Ser364=)
n.1153A>T
c.666A>T (p.Ser222=)
c.999A>T (p.Ser333=)
c.708A>T (p.Ser236=)
c.1317A>T (p.Ser439=)
c.1239A>T (p.Ser413=)
4g.71451204G>ACA357418276SLC4A4c.1321G>A (p.Gly441Ser)
c.1225G>A (p.Gly409Ser)
c.1093G>A (p.Gly365Ser)
n.1154G>A
c.667G>A (p.Gly223Ser)
c.1000G>A (p.Gly334Ser)
c.709G>A (p.Gly237Ser)
c.1318G>A (p.Gly440Ser)
c.1240G>A (p.Gly414Ser)
4g.71451204G>CCA357418274SLC4A4c.1321G>C (p.Gly441Arg)
c.1225G>C (p.Gly409Arg)
c.1093G>C (p.Gly365Arg)
n.1154G>C
c.667G>C (p.Gly223Arg)
c.1000G>C (p.Gly334Arg)
c.709G>C (p.Gly237Arg)
c.1318G>C (p.Gly440Arg)
c.1240G>C (p.Gly414Arg)
4g.71451204G>TCA357418275SLC4A4c.1321G>T (p.Gly441Cys)
c.1225G>T (p.Gly409Cys)
c.1093G>T (p.Gly365Cys)
n.1154G>T
c.667G>T (p.Gly223Cys)
c.1000G>T (p.Gly334Cys)
c.709G>T (p.Gly237Cys)
c.1318G>T (p.Gly440Cys)
c.1240G>T (p.Gly414Cys)
4g.71451205G>ACA357418277SLC4A4c.1322G>A (p.Gly441Asp)
c.1226G>A (p.Gly409Asp)
c.1094G>A (p.Gly365Asp)
n.1155G>A
c.668G>A (p.Gly223Asp)
c.1001G>A (p.Gly334Asp)
c.710G>A (p.Gly237Asp)
c.1319G>A (p.Gly440Asp)
c.1241G>A (p.Gly414Asp)
 gnomAD v4
4g.71451205G>CCA357418278SLC4A4c.1322G>C (p.Gly441Ala)
c.1226G>C (p.Gly409Ala)
c.1094G>C (p.Gly365Ala)
n.1155G>C
c.668G>C (p.Gly223Ala)
c.1001G>C (p.Gly334Ala)
c.710G>C (p.Gly237Ala)
c.1319G>C (p.Gly440Ala)
c.1241G>C (p.Gly414Ala)
4g.71451205G=CA1467213195SLC4A4c.1322G= (p.Gly441=)
c.1226G= (p.Gly409=)
c.1094G= (p.Gly365=)
n.1155G=
c.668G= (p.Gly223=)
c.1001G= (p.Gly334=)
c.710G= (p.Gly237=)
c.1319G= (p.Gly440=)
c.1241G= (p.Gly414=)
4g.71451205G>TCA2954770SLC4A4c.1322G>T (p.Gly441Val)
c.1226G>T (p.Gly409Val)
c.1094G>T (p.Gly365Val)
n.1155G>T
c.668G>T (p.Gly223Val)
c.1001G>T (p.Gly334Val)
c.710G>T (p.Gly237Val)
c.1319G>T (p.Gly440Val)
c.1241G>T (p.Gly414Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.71451206T>ACA439875618SLC4A4c.1323T>A (p.Gly441=)
c.1227T>A (p.Gly409=)
c.1095T>A (p.Gly365=)
n.1156T>A
c.669T>A (p.Gly223=)
c.1002T>A (p.Gly334=)
c.711T>A (p.Gly237=)
c.1320T>A (p.Gly440=)
c.1242T>A (p.Gly414=)
4g.71451206T>CCA439875619SLC4A4c.1323T>C (p.Gly441=)
c.1227T>C (p.Gly409=)
c.1095T>C (p.Gly365=)
n.1156T>C
c.669T>C (p.Gly223=)
c.1002T>C (p.Gly334=)
c.711T>C (p.Gly237=)
c.1320T>C (p.Gly440=)
c.1242T>C (p.Gly414=)
4g.71451206T>GCA439875620SLC4A4c.1323T>G (p.Gly441=)
c.1227T>G (p.Gly409=)
c.1095T>G (p.Gly365=)
n.1156T>G
c.669T>G (p.Gly223=)
c.1002T>G (p.Gly334=)
c.711T>G (p.Gly237=)
c.1320T>G (p.Gly440=)
c.1242T>G (p.Gly414=)
4g.71451207G>ACA357418279SLC4A4c.1324G>A (p.Gly442Arg)
c.1228G>A (p.Gly410Arg)
c.1096G>A (p.Gly366Arg)
n.1157G>A
c.670G>A (p.Gly224Arg)
c.1003G>A (p.Gly335Arg)
c.712G>A (p.Gly238Arg)
c.1321G>A (p.Gly441Arg)
c.1243G>A (p.Gly415Arg)
 COSMIC COSMIC
4g.71451207G>CCA357418280SLC4A4c.1324G>C (p.Gly442Arg)
c.1228G>C (p.Gly410Arg)
c.1096G>C (p.Gly366Arg)
n.1157G>C
c.670G>C (p.Gly224Arg)
c.1003G>C (p.Gly335Arg)
c.712G>C (p.Gly238Arg)
c.1321G>C (p.Gly441Arg)
c.1243G>C (p.Gly415Arg)
4g.71451207G>TCA357418281SLC4A4c.1324G>T (p.Gly442Ter)
c.1228G>T (p.Gly410Ter)
c.1096G>T (p.Gly366Ter)
n.1157G>T
c.670G>T (p.Gly224Ter)
c.1003G>T (p.Gly335Ter)
c.712G>T (p.Gly238Ter)
c.1321G>T (p.Gly441Ter)
c.1243G>T (p.Gly415Ter)
4g.71451208G>ACA357418282SLC4A4c.1325G>A (p.Gly442Glu)
c.1229G>A (p.Gly410Glu)
c.1097G>A (p.Gly366Glu)
n.1158G>A
c.671G>A (p.Gly224Glu)
c.1004G>A (p.Gly335Glu)
c.713G>A (p.Gly238Glu)
c.1322G>A (p.Gly441Glu)
c.1244G>A (p.Gly415Glu)
4g.71451208G>CCA357418283SLC4A4c.1325G>C (p.Gly442Ala)
c.1229G>C (p.Gly410Ala)
c.1097G>C (p.Gly366Ala)
n.1158G>C
c.671G>C (p.Gly224Ala)
c.1004G>C (p.Gly335Ala)
c.713G>C (p.Gly238Ala)
c.1322G>C (p.Gly441Ala)
c.1244G>C (p.Gly415Ala)
4g.71451208G>TCA357418284SLC4A4c.1325G>T (p.Gly442Val)
c.1229G>T (p.Gly410Val)
c.1097G>T (p.Gly366Val)
n.1158G>T
c.671G>T (p.Gly224Val)
c.1004G>T (p.Gly335Val)
c.713G>T (p.Gly238Val)
c.1322G>T (p.Gly441Val)
c.1244G>T (p.Gly415Val)
 gnomAD v4
4g.71451209A>CCA439875621SLC4A4c.1326A>C (p.Gly442=)
c.1230A>C (p.Gly410=)
c.1098A>C (p.Gly366=)
n.1159A>C
c.672A>C (p.Gly224=)
c.1005A>C (p.Gly335=)
c.714A>C (p.Gly238=)
c.1323A>C (p.Gly441=)
c.1245A>C (p.Gly415=)
4g.71451209A>GCA439875622SLC4A4c.1326A>G (p.Gly442=)
c.1230A>G (p.Gly410=)
c.1098A>G (p.Gly366=)
n.1159A>G
c.672A>G (p.Gly224=)
c.1005A>G (p.Gly335=)
c.714A>G (p.Gly238=)
c.1323A>G (p.Gly441=)
c.1245A>G (p.Gly415=)
4g.71451209A>TCA439875623SLC4A4c.1326A>T (p.Gly442=)
c.1230A>T (p.Gly410=)
c.1098A>T (p.Gly366=)
n.1159A>T
c.672A>T (p.Gly224=)
c.1005A>T (p.Gly335=)
c.714A>T (p.Gly238=)
c.1323A>T (p.Gly441=)
c.1245A>T (p.Gly415=)
4g.71451210G>ACA2954771SLC4A4c.1327G>A (p.Glu443Lys)
c.1231G>A (p.Glu411Lys)
c.1099G>A (p.Glu367Lys)
n.1160G>A
c.673G>A (p.Glu225Lys)
c.1006G>A (p.Glu336Lys)
c.715G>A (p.Glu239Lys)
c.1324G>A (p.Glu442Lys)
c.1246G>A (p.Glu416Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.71451210G>CCA357418285SLC4A4c.1327G>C (p.Glu443Gln)
c.1231G>C (p.Glu411Gln)
c.1099G>C (p.Glu367Gln)
n.1160G>C
c.673G>C (p.Glu225Gln)
c.1006G>C (p.Glu336Gln)
c.715G>C (p.Glu239Gln)
c.1324G>C (p.Glu442Gln)
c.1246G>C (p.Glu416Gln)
4g.71451210G=CA1467213202SLC4A4c.1327G= (p.Glu443=)
c.1231G= (p.Glu411=)
c.1099G= (p.Glu367=)
n.1160G=
c.673G= (p.Glu225=)
c.1006G= (p.Glu336=)
c.715G= (p.Glu239=)
c.1324G= (p.Glu442=)
c.1246G= (p.Glu416=)
4g.71451210G>TCA357418286SLC4A4c.1327G>T (p.Glu443Ter)
c.1231G>T (p.Glu411Ter)
c.1099G>T (p.Glu367Ter)
n.1160G>T
c.673G>T (p.Glu225Ter)
c.1006G>T (p.Glu336Ter)
c.715G>T (p.Glu239Ter)
c.1324G>T (p.Glu442Ter)
c.1246G>T (p.Glu416Ter)
4g.71451211A>CCA357418288SLC4A4c.1328A>C (p.Glu443Ala)
c.1232A>C (p.Glu411Ala)
c.1100A>C (p.Glu367Ala)
n.1161A>C
c.674A>C (p.Glu225Ala)
c.1007A>C (p.Glu336Ala)
c.716A>C (p.Glu239Ala)
c.1325A>C (p.Glu442Ala)
c.1247A>C (p.Glu416Ala)
4g.71451211A>GCA357418289SLC4A4c.1328A>G (p.Glu443Gly)
c.1232A>G (p.Glu411Gly)
c.1100A>G (p.Glu367Gly)
n.1161A>G
c.674A>G (p.Glu225Gly)
c.1007A>G (p.Glu336Gly)
c.716A>G (p.Glu239Gly)
c.1325A>G (p.Glu442Gly)
c.1247A>G (p.Glu416Gly)
4g.71451211A>TCA357418287SLC4A4c.1328A>T (p.Glu443Val)
c.1232A>T (p.Glu411Val)
c.1100A>T (p.Glu367Val)
n.1161A>T
c.674A>T (p.Glu225Val)
c.1007A>T (p.Glu336Val)
c.716A>T (p.Glu239Val)
c.1325A>T (p.Glu442Val)
c.1247A>T (p.Glu416Val)
4g.71451212G>ACA439875624SLC4A4c.1329G>A (p.Glu443=)
c.1233G>A (p.Glu411=)
c.1101G>A (p.Glu367=)
n.1162G>A
c.675G>A (p.Glu225=)
c.1008G>A (p.Glu336=)
c.717G>A (p.Glu239=)
c.1326G>A (p.Glu442=)
c.1248G>A (p.Glu416=)
4g.71451212G>CCA357418291SLC4A4c.1329G>C (p.Glu443Asp)
c.1233G>C (p.Glu411Asp)
c.1101G>C (p.Glu367Asp)
n.1162G>C
c.675G>C (p.Glu225Asp)
c.1008G>C (p.Glu336Asp)
c.717G>C (p.Glu239Asp)
c.1326G>C (p.Glu442Asp)
c.1248G>C (p.Glu416Asp)
4g.71451212G>TCA357418290SLC4A4c.1329G>T (p.Glu443Asp)
c.1233G>T (p.Glu411Asp)
c.1101G>T (p.Glu367Asp)
n.1162G>T
c.675G>T (p.Glu225Asp)
c.1008G>T (p.Glu336Asp)
c.717G>T (p.Glu239Asp)
c.1326G>T (p.Glu442Asp)
c.1248G>T (p.Glu416Asp)
4g.71451213A=CA1467213210SLC4A4c.1330A= (p.Asn444=)
c.1234A= (p.Asn412=)
c.1102A= (p.Asn368=)
n.1163A=
c.676A= (p.Asn226=)
c.1009A= (p.Asn337=)
c.718A= (p.Asn240=)
c.1327A= (p.Asn443=)
c.1249A= (p.Asn417=)
4g.71451213A>CCA357418292SLC4A4c.1330A>C (p.Asn444His)
c.1234A>C (p.Asn412His)
c.1102A>C (p.Asn368His)
n.1163A>C
c.676A>C (p.Asn226His)
c.1009A>C (p.Asn337His)
c.718A>C (p.Asn240His)
c.1327A>C (p.Asn443His)
c.1249A>C (p.Asn417His)
 dbSNP gnomAD v2 gnomAD v4
4g.71451213A>GCA357418293SLC4A4c.1330A>G (p.Asn444Asp)
c.1234A>G (p.Asn412Asp)
c.1102A>G (p.Asn368Asp)
n.1163A>G
c.676A>G (p.Asn226Asp)
c.1009A>G (p.Asn337Asp)
c.718A>G (p.Asn240Asp)
c.1327A>G (p.Asn443Asp)
c.1249A>G (p.Asn417Asp)
 dbSNP gnomAD v3 gnomAD v4
4g.71451213A>TCA357418294SLC4A4c.1330A>T (p.Asn444Tyr)
c.1234A>T (p.Asn412Tyr)
c.1102A>T (p.Asn368Tyr)
n.1163A>T
c.676A>T (p.Asn226Tyr)
c.1009A>T (p.Asn337Tyr)
c.718A>T (p.Asn240Tyr)
c.1327A>T (p.Asn443Tyr)
c.1249A>T (p.Asn417Tyr)
4g.71451214A=CA1467213225SLC4A4c.1331A= (p.Asn444=)
c.1235A= (p.Asn412=)
c.1103A= (p.Asn368=)
n.1164A=
c.677A= (p.Asn226=)
c.1010A= (p.Asn337=)
c.719A= (p.Asn240=)
c.1328A= (p.Asn443=)
c.1250A= (p.Asn417=)
4g.71451214A>CCA357418295SLC4A4c.1331A>C (p.Asn444Thr)
c.1235A>C (p.Asn412Thr)
c.1103A>C (p.Asn368Thr)
n.1164A>C
c.677A>C (p.Asn226Thr)
c.1010A>C (p.Asn337Thr)
c.719A>C (p.Asn240Thr)
c.1328A>C (p.Asn443Thr)
c.1250A>C (p.Asn417Thr)
 dbSNP
4g.71451214A>GCA10621650SLC4A4c.1331A>G (p.Asn444Ser)
c.1235A>G (p.Asn412Ser)
c.1103A>G (p.Asn368Ser)
n.1164A>G
c.677A>G (p.Asn226Ser)
c.1010A>G (p.Asn337Ser)
c.719A>G (p.Asn240Ser)
c.1328A>G (p.Asn443Ser)
c.1250A>G (p.Asn417Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.71451214A>TCA357418296SLC4A4c.1331A>T (p.Asn444Ile)
c.1235A>T (p.Asn412Ile)
c.1103A>T (p.Asn368Ile)
n.1164A>T
c.677A>T (p.Asn226Ile)
c.1010A>T (p.Asn337Ile)
c.719A>T (p.Asn240Ile)
c.1328A>T (p.Asn443Ile)
c.1250A>T (p.Asn417Ile)
4g.71451215T>ACA357418297SLC4A4c.1332T>A (p.Asn444Lys)
c.1236T>A (p.Asn412Lys)
c.1104T>A (p.Asn368Lys)
n.1165T>A
c.678T>A (p.Asn226Lys)
c.1011T>A (p.Asn337Lys)
c.720T>A (p.Asn240Lys)
c.1329T>A (p.Asn443Lys)
c.1251T>A (p.Asn417Lys)
4g.71451215T>CCA439875625SLC4A4c.1332T>C (p.Asn444=)
c.1236T>C (p.Asn412=)
c.1104T>C (p.Asn368=)
n.1165T>C
c.678T>C (p.Asn226=)
c.1011T>C (p.Asn337=)
c.720T>C (p.Asn240=)
c.1329T>C (p.Asn443=)
c.1251T>C (p.Asn417=)
4g.71451215T>GCA357418298SLC4A4c.1332T>G (p.Asn444Lys)
c.1236T>G (p.Asn412Lys)
c.1104T>G (p.Asn368Lys)
n.1165T>G
c.678T>G (p.Asn226Lys)
c.1011T>G (p.Asn337Lys)
c.720T>G (p.Asn240Lys)
c.1329T>G (p.Asn443Lys)
c.1251T>G (p.Asn417Lys)
4g.71451216G>ACA357418299SLC4A4c.1333G>A (p.Val445Ile)
c.1237G>A (p.Val413Ile)
c.1105G>A (p.Val369Ile)
n.1166G>A
c.679G>A (p.Val227Ile)
c.1012G>A (p.Val338Ile)
c.721G>A (p.Val241Ile)
c.1330G>A (p.Val444Ile)
c.1252G>A (p.Val418Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.71451216G>CCA357418300SLC4A4c.1333G>C (p.Val445Leu)
c.1237G>C (p.Val413Leu)
c.1105G>C (p.Val369Leu)
n.1166G>C
c.679G>C (p.Val227Leu)
c.1012G>C (p.Val338Leu)
c.721G>C (p.Val241Leu)
c.1330G>C (p.Val444Leu)
c.1252G>C (p.Val418Leu)
4g.71451216G=CA1467213229SLC4A4c.1333G= (p.Val445=)
c.1237G= (p.Val413=)
c.1105G= (p.Val369=)
n.1166G=
c.679G= (p.Val227=)
c.1012G= (p.Val338=)
c.721G= (p.Val241=)
c.1330G= (p.Val444=)
c.1252G= (p.Val418=)
4g.71451216G>TCA357418301SLC4A4c.1333G>T (p.Val445Phe)
c.1237G>T (p.Val413Phe)
c.1105G>T (p.Val369Phe)
n.1166G>T
c.679G>T (p.Val227Phe)
c.1012G>T (p.Val338Phe)
c.721G>T (p.Val241Phe)
c.1330G>T (p.Val444Phe)
c.1252G>T (p.Val418Phe)
4g.71451217T>ACA99463072SLC4A4c.1334T>A (p.Val445Asp)
c.1238T>A (p.Val413Asp)
c.1106T>A (p.Val369Asp)
n.1167T>A
c.680T>A (p.Val227Asp)
c.1013T>A (p.Val338Asp)
c.722T>A (p.Val241Asp)
c.1331T>A (p.Val444Asp)
c.1253T>A (p.Val418Asp)
 dbSNP gnomAD v3 gnomAD v4
4g.71451217T>CCA2954772SLC4A4c.1334T>C (p.Val445Ala)
c.1238T>C (p.Val413Ala)
c.1106T>C (p.Val369Ala)
n.1167T>C
c.680T>C (p.Val227Ala)
c.1013T>C (p.Val338Ala)
c.722T>C (p.Val241Ala)
c.1331T>C (p.Val444Ala)
c.1253T>C (p.Val418Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.71451217T>GCA357418302SLC4A4c.1334T>G (p.Val445Gly)
c.1238T>G (p.Val413Gly)
c.1106T>G (p.Val369Gly)
n.1167T>G
c.680T>G (p.Val227Gly)
c.1013T>G (p.Val338Gly)
c.722T>G (p.Val241Gly)
c.1331T>G (p.Val444Gly)
c.1253T>G (p.Val418Gly)
4g.71451217T=CA1467213234SLC4A4c.1334T= (p.Val445=)
c.1238T= (p.Val413=)
c.1106T= (p.Val369=)
n.1167T=
c.680T= (p.Val227=)
c.1013T= (p.Val338=)
c.722T= (p.Val241=)
c.1331T= (p.Val444=)
c.1253T= (p.Val418=)
4g.71451218T>ACA99463073SLC4A4c.1335T>A (p.Val445=)
c.1239T>A (p.Val413=)
c.1107T>A (p.Val369=)
n.1168T>A
c.681T>A (p.Val227=)
c.1014T>A (p.Val338=)
c.723T>A (p.Val241=)
c.1332T>A (p.Val444=)
c.1254T>A (p.Val418=)
 dbSNP gnomAD v2 gnomAD v4
4g.71451218T>CCA439875626SLC4A4c.1335T>C (p.Val445=)
c.1239T>C (p.Val413=)
c.1107T>C (p.Val369=)
n.1168T>C
c.681T>C (p.Val227=)
c.1014T>C (p.Val338=)
c.723T>C (p.Val241=)
c.1332T>C (p.Val444=)
c.1254T>C (p.Val418=)
4g.71451218T>GCA439875627SLC4A4c.1335T>G (p.Val445=)
c.1239T>G (p.Val413=)
c.1107T>G (p.Val369=)
n.1168T>G
c.681T>G (p.Val227=)
c.1014T>G (p.Val338=)
c.723T>G (p.Val241=)
c.1332T>G (p.Val444=)
c.1254T>G (p.Val418=)
4g.71451218T=CA1467213244SLC4A4c.1335T= (p.Val445=)
c.1239T= (p.Val413=)
c.1107T= (p.Val369=)
n.1168T=
c.681T= (p.Val227=)
c.1014T= (p.Val338=)
c.723T= (p.Val241=)
c.1332T= (p.Val444=)
c.1254T= (p.Val418=)
4g.71451219C>ACA357418303SLC4A4c.1336C>A (p.Gln446Lys)
c.1240C>A (p.Gln414Lys)
c.1108C>A (p.Gln370Lys)
n.1169C>A
c.682C>A (p.Gln228Lys)
c.1015C>A (p.Gln339Lys)
c.724C>A (p.Gln242Lys)
c.1333C>A (p.Gln445Lys)
c.1255C>A (p.Gln419Lys)
 dbSNP gnomAD v4
4g.71451219C=CA1467213250SLC4A4c.1336C= (p.Gln446=)
c.1240C= (p.Gln414=)
c.1108C= (p.Gln370=)
n.1169C=
c.682C= (p.Gln228=)
c.1015C= (p.Gln339=)
c.724C= (p.Gln242=)
c.1333C= (p.Gln445=)
c.1255C= (p.Gln419=)
4g.71451219C>GCA357418304SLC4A4c.1336C>G (p.Gln446Glu)
c.1240C>G (p.Gln414Glu)
c.1108C>G (p.Gln370Glu)
n.1169C>G
c.682C>G (p.Gln228Glu)
c.1015C>G (p.Gln339Glu)
c.724C>G (p.Gln242Glu)
c.1333C>G (p.Gln445Glu)
c.1255C>G (p.Gln419Glu)
4g.71451219C>TCA357418305SLC4A4c.1336C>T (p.Gln446Ter)
c.1240C>T (p.Gln414Ter)
c.1108C>T (p.Gln370Ter)
n.1169C>T
c.682C>T (p.Gln228Ter)
c.1015C>T (p.Gln339Ter)
c.724C>T (p.Gln242Ter)
c.1333C>T (p.Gln445Ter)
c.1255C>T (p.Gln419Ter)
4g.71451220A>CCA357418306SLC4A4c.1337A>C (p.Gln446Pro)
c.1241A>C (p.Gln414Pro)
c.1109A>C (p.Gln370Pro)
n.1170A>C
c.683A>C (p.Gln228Pro)
c.1016A>C (p.Gln339Pro)
c.725A>C (p.Gln242Pro)
c.1334A>C (p.Gln445Pro)
c.1256A>C (p.Gln419Pro)
4g.71451220A>GCA357418307SLC4A4c.1337A>G (p.Gln446Arg)
c.1241A>G (p.Gln414Arg)
c.1109A>G (p.Gln370Arg)
n.1170A>G
c.683A>G (p.Gln228Arg)
c.1016A>G (p.Gln339Arg)
c.725A>G (p.Gln242Arg)
c.1334A>G (p.Gln445Arg)
c.1256A>G (p.Gln419Arg)
4g.71451220A>TCA357418308SLC4A4c.1337A>T (p.Gln446Leu)
c.1241A>T (p.Gln414Leu)
c.1109A>T (p.Gln370Leu)
n.1170A>T
c.683A>T (p.Gln228Leu)
c.1016A>T (p.Gln339Leu)
c.725A>T (p.Gln242Leu)
c.1334A>T (p.Gln445Leu)
c.1256A>T (p.Gln419Leu)
4g.71451221G>ACA439875628SLC4A4c.1338G>A (p.Gln446=)
c.1242G>A (p.Gln414=)
c.1110G>A (p.Gln370=)
n.1171G>A
c.684G>A (p.Gln228=)
c.1017G>A (p.Gln339=)
c.726G>A (p.Gln242=)
c.1335G>A (p.Gln445=)
c.1257G>A (p.Gln419=)
4g.71451221G>CCA357418309SLC4A4c.1338G>C (p.Gln446His)
c.1242G>C (p.Gln414His)
c.1110G>C (p.Gln370His)
n.1171G>C
c.684G>C (p.Gln228His)
c.1017G>C (p.Gln339His)
c.726G>C (p.Gln242His)
c.1335G>C (p.Gln445His)
c.1257G>C (p.Gln419His)
4g.71451221G>TCA357418310SLC4A4c.1338G>T (p.Gln446His)
c.1242G>T (p.Gln414His)
c.1110G>T (p.Gln370His)
n.1171G>T
c.684G>T (p.Gln228His)
c.1017G>T (p.Gln339His)
c.726G>T (p.Gln242His)
c.1335G>T (p.Gln445His)
c.1257G>T (p.Gln419His)
4g.71451222A=CA1467213253SLC4A4c.1339A= (p.Met447=)
c.1243A= (p.Met415=)
c.1111A= (p.Met371=)
n.1172A=
c.685A= (p.Met229=)
c.1018A= (p.Met340=)
c.727A= (p.Met243=)
c.1336A= (p.Met446=)
c.1258A= (p.Met420=)
4g.71451222A>CCA357418311SLC4A4c.1339A>C (p.Met447Leu)
c.1243A>C (p.Met415Leu)
c.1111A>C (p.Met371Leu)
n.1172A>C
c.685A>C (p.Met229Leu)
c.1018A>C (p.Met340Leu)
c.727A>C (p.Met243Leu)
c.1336A>C (p.Met446Leu)
c.1258A>C (p.Met420Leu)
4g.71451222A>GCA2954773SLC4A4c.1339A>G (p.Met447Val)
c.1243A>G (p.Met415Val)
c.1111A>G (p.Met371Val)
n.1172A>G
c.685A>G (p.Met229Val)
c.1018A>G (p.Met340Val)
c.727A>G (p.Met243Val)
c.1336A>G (p.Met446Val)
c.1258A>G (p.Met420Val)
 dbSNP ExAC gnomAD v3 gnomAD v4
4g.71451222A>TCA357418312SLC4A4c.1339A>T (p.Met447Leu)
c.1243A>T (p.Met415Leu)
c.1111A>T (p.Met371Leu)
n.1172A>T
c.685A>T (p.Met229Leu)
c.1018A>T (p.Met340Leu)
c.727A>T (p.Met243Leu)
c.1336A>T (p.Met446Leu)
c.1258A>T (p.Met420Leu)
4g.71451223T>ACA357418314SLC4A4c.1340T>A (p.Met447Lys)
c.1244T>A (p.Met415Lys)
c.1112T>A (p.Met371Lys)
n.1173T>A
c.686T>A (p.Met229Lys)
c.1019T>A (p.Met340Lys)
c.728T>A (p.Met243Lys)
c.1337T>A (p.Met446Lys)
c.1259T>A (p.Met420Lys)
4g.71451223T>CCA357418315SLC4A4c.1340T>C (p.Met447Thr)
c.1244T>C (p.Met415Thr)
c.1112T>C (p.Met371Thr)
n.1173T>C
c.686T>C (p.Met229Thr)
c.1019T>C (p.Met340Thr)
c.728T>C (p.Met243Thr)
c.1337T>C (p.Met446Thr)
c.1259T>C (p.Met420Thr)
4g.71451223T>GCA357418313SLC4A4c.1340T>G (p.Met447Arg)
c.1244T>G (p.Met415Arg)
c.1112T>G (p.Met371Arg)
n.1173T>G
c.686T>G (p.Met229Arg)
c.1019T>G (p.Met340Arg)
c.728T>G (p.Met243Arg)
c.1337T>G (p.Met446Arg)
c.1259T>G (p.Met420Arg)
4g.71451224G>ACA357418316SLC4A4c.1341G>A (p.Met447Ile)
c.1245G>A (p.Met415Ile)
c.1113G>A (p.Met371Ile)
n.1174G>A
c.687G>A (p.Met229Ile)
c.1020G>A (p.Met340Ile)
c.729G>A (p.Met243Ile)
c.1338G>A (p.Met446Ile)
c.1260G>A (p.Met420Ile)
 COSMIC
4g.71451224G>CCA357418317SLC4A4c.1341G>C (p.Met447Ile)
c.1245G>C (p.Met415Ile)
c.1113G>C (p.Met371Ile)
n.1174G>C
c.687G>C (p.Met229Ile)
c.1020G>C (p.Met340Ile)
c.729G>C (p.Met243Ile)
c.1338G>C (p.Met446Ile)
c.1260G>C (p.Met420Ile)
4g.71451224G>TCA357418318SLC4A4c.1341G>T (p.Met447Ile)
c.1245G>T (p.Met415Ile)
c.1113G>T (p.Met371Ile)
n.1174G>T
c.687G>T (p.Met229Ile)
c.1020G>T (p.Met340Ile)
c.729G>T (p.Met243Ile)
c.1338G>T (p.Met446Ile)
c.1260G>T (p.Met420Ile)
4g.71451225A>CCA357418319SLC4A4c.1342A>C (p.Asn448His)
c.1246A>C (p.Asn416His)
c.1114A>C (p.Asn372His)
n.1175A>C
c.688A>C (p.Asn230His)
c.1021A>C (p.Asn341His)
c.730A>C (p.Asn244His)
c.1339A>C (p.Asn447His)
c.1261A>C (p.Asn421His)
4g.71451225A>GCA357418320SLC4A4c.1342A>G (p.Asn448Asp)
c.1246A>G (p.Asn416Asp)
c.1114A>G (p.Asn372Asp)
n.1175A>G
c.688A>G (p.Asn230Asp)
c.1021A>G (p.Asn341Asp)
c.730A>G (p.Asn244Asp)
c.1339A>G (p.Asn447Asp)
c.1261A>G (p.Asn421Asp)
4g.71451225A>TCA357418321SLC4A4c.1342A>T (p.Asn448Tyr)
c.1246A>T (p.Asn416Tyr)
c.1114A>T (p.Asn372Tyr)
n.1175A>T
c.688A>T (p.Asn230Tyr)
c.1021A>T (p.Asn341Tyr)
c.730A>T (p.Asn244Tyr)
c.1339A>T (p.Asn447Tyr)
c.1261A>T (p.Asn421Tyr)
4g.71451226A>CCA357418322SLC4A4c.1343A>C (p.Asn448Thr)
c.1247A>C (p.Asn416Thr)
c.1115A>C (p.Asn372Thr)
n.1176A>C
c.689A>C (p.Asn230Thr)
c.1022A>C (p.Asn341Thr)
c.731A>C (p.Asn244Thr)
c.1340A>C (p.Asn447Thr)
c.1262A>C (p.Asn421Thr)
4g.71451226A>GCA357418323SLC4A4c.1343A>G (p.Asn448Ser)
c.1247A>G (p.Asn416Ser)
c.1115A>G (p.Asn372Ser)
n.1176A>G
c.689A>G (p.Asn230Ser)
c.1022A>G (p.Asn341Ser)
c.731A>G (p.Asn244Ser)
c.1340A>G (p.Asn447Ser)
c.1262A>G (p.Asn421Ser)
 COSMIC COSMIC
4g.71451226A>TCA357418324SLC4A4c.1343A>T (p.Asn448Ile)
c.1247A>T (p.Asn416Ile)
c.1115A>T (p.Asn372Ile)
n.1176A>T
c.689A>T (p.Asn230Ile)
c.1022A>T (p.Asn341Ile)
c.731A>T (p.Asn244Ile)
c.1340A>T (p.Asn447Ile)
c.1262A>T (p.Asn421Ile)
4g.71451227T>ACA357418325SLC4A4c.1344T>A (p.Asn448Lys)
c.1248T>A (p.Asn416Lys)
c.1116T>A (p.Asn372Lys)
n.1177T>A
c.690T>A (p.Asn230Lys)
c.1023T>A (p.Asn341Lys)
c.732T>A (p.Asn244Lys)
c.1341T>A (p.Asn447Lys)
c.1263T>A (p.Asn421Lys)
 COSMIC COSMIC
4g.71451227T>CCA439875629SLC4A4c.1344T>C (p.Asn448=)
c.1248T>C (p.Asn416=)
c.1116T>C (p.Asn372=)
n.1177T>C
c.690T>C (p.Asn230=)
c.1023T>C (p.Asn341=)
c.732T>C (p.Asn244=)
c.1341T>C (p.Asn447=)
c.1263T>C (p.Asn421=)
4g.71451227T>GCA357418326SLC4A4c.1344T>G (p.Asn448Lys)
c.1248T>G (p.Asn416Lys)
c.1116T>G (p.Asn372Lys)
n.1177T>G
c.690T>G (p.Asn230Lys)
c.1023T>G (p.Asn341Lys)
c.732T>G (p.Asn244Lys)
c.1341T>G (p.Asn447Lys)
c.1263T>G (p.Asn421Lys)
4g.71451228G>ACA357418327SLC4A4c.1345G>A (p.Gly449Arg)
c.1249G>A (p.Gly417Arg)
c.1117G>A (p.Gly373Arg)
n.1178G>A
c.691G>A (p.Gly231Arg)
c.1024G>A (p.Gly342Arg)
c.733G>A (p.Gly245Arg)
c.1342G>A (p.Gly448Arg)
c.1264G>A (p.Gly422Arg)
 dbSNP
4g.71451228G>CCA357418328SLC4A4c.1345G>C (p.Gly449Arg)
c.1249G>C (p.Gly417Arg)
c.1117G>C (p.Gly373Arg)
n.1178G>C
c.691G>C (p.Gly231Arg)
c.1024G>C (p.Gly342Arg)
c.733G>C (p.Gly245Arg)
c.1342G>C (p.Gly448Arg)
c.1264G>C (p.Gly422Arg)
4g.71451228G=CA1467213256SLC4A4c.1345G= (p.Gly449=)
c.1249G= (p.Gly417=)
c.1117G= (p.Gly373=)
n.1178G=
c.691G= (p.Gly231=)
c.1024G= (p.Gly342=)
c.733G= (p.Gly245=)
c.1342G= (p.Gly448=)
c.1264G= (p.Gly422=)
4g.71451228G>TCA357418329SLC4A4c.1345G>T (p.Gly449Trp)
c.1249G>T (p.Gly417Trp)
c.1117G>T (p.Gly373Trp)
n.1178G>T
c.691G>T (p.Gly231Trp)
c.1024G>T (p.Gly342Trp)
c.733G>T (p.Gly245Trp)
c.1342G>T (p.Gly448Trp)
c.1264G>T (p.Gly422Trp)
 COSMIC COSMIC
4g.71451229G>ACA357418332SLC4A4c.1346G>A (p.Gly449Glu)
c.1250G>A (p.Gly417Glu)
c.1118G>A (p.Gly373Glu)
n.1179G>A
c.692G>A (p.Gly231Glu)
c.1025G>A (p.Gly342Glu)
c.734G>A (p.Gly245Glu)
c.1343G>A (p.Gly448Glu)
c.1265G>A (p.Gly422Glu)
 gnomAD v4
4g.71451229G>CCA357418331SLC4A4c.1346G>C (p.Gly449Ala)
c.1250G>C (p.Gly417Ala)
c.1118G>C (p.Gly373Ala)
n.1179G>C
c.692G>C (p.Gly231Ala)
c.1025G>C (p.Gly342Ala)
c.734G>C (p.Gly245Ala)
c.1343G>C (p.Gly448Ala)
c.1265G>C (p.Gly422Ala)
4g.71451229G>TCA357418330SLC4A4c.1346G>T (p.Gly449Val)
c.1250G>T (p.Gly417Val)
c.1118G>T (p.Gly373Val)
n.1179G>T
c.692G>T (p.Gly231Val)
c.1025G>T (p.Gly342Val)
c.734G>T (p.Gly245Val)
c.1343G>T (p.Gly448Val)
c.1265G>T (p.Gly422Val)
4g.71451230G>ACA439875630SLC4A4c.1347G>A (p.Gly449=)
c.1251G>A (p.Gly417=)
c.1119G>A (p.Gly373=)
n.1180G>A
c.693G>A (p.Gly231=)
c.1026G>A (p.Gly342=)
c.735G>A (p.Gly245=)
c.1344G>A (p.Gly448=)
c.1266G>A (p.Gly422=)
4g.71451230G>CCA439875631SLC4A4c.1347G>C (p.Gly449=)
c.1251G>C (p.Gly417=)
c.1119G>C (p.Gly373=)
n.1180G>C
c.693G>C (p.Gly231=)
c.1026G>C (p.Gly342=)
c.735G>C (p.Gly245=)
c.1344G>C (p.Gly448=)
c.1266G>C (p.Gly422=)
4g.71451230G>TCA439875632SLC4A4c.1347G>T (p.Gly449=)
c.1251G>T (p.Gly417=)
c.1119G>T (p.Gly373=)
n.1180G>T
c.693G>T (p.Gly231=)
c.1026G>T (p.Gly342=)
c.735G>T (p.Gly245=)
c.1344G>T (p.Gly448=)
c.1266G>T (p.Gly422=)
4g.71451231G>ACA357418333SLC4A4c.1348G>A (p.Asp450Asn)
c.1252G>A (p.Asp418Asn)
c.1120G>A (p.Asp374Asn)
n.1181G>A
c.694G>A (p.Asp232Asn)
c.1027G>A (p.Asp343Asn)
c.736G>A (p.Asp246Asn)
c.1345G>A (p.Asp449Asn)
c.1267G>A (p.Asp423Asn)
 gnomAD v4 COSMIC COSMIC
4g.71451231G>CCA357418334SLC4A4c.1348G>C (p.Asp450His)
c.1252G>C (p.Asp418His)
c.1120G>C (p.Asp374His)
n.1181G>C
c.694G>C (p.Asp232His)
c.1027G>C (p.Asp343His)
c.736G>C (p.Asp246His)
c.1345G>C (p.Asp449His)
c.1267G>C (p.Asp423His)
 dbSNP gnomAD v2 gnomAD v4
4g.71451231G=CA1467213257SLC4A4c.1348G= (p.Asp450=)
c.1252G= (p.Asp418=)
c.1120G= (p.Asp374=)
n.1181G=
c.694G= (p.Asp232=)
c.1027G= (p.Asp343=)
c.736G= (p.Asp246=)
c.1345G= (p.Asp449=)
c.1267G= (p.Asp423=)
4g.71451231G>TCA357418335SLC4A4c.1348G>T (p.Asp450Tyr)
c.1252G>T (p.Asp418Tyr)
c.1120G>T (p.Asp374Tyr)
n.1181G>T
c.694G>T (p.Asp232Tyr)
c.1027G>T (p.Asp343Tyr)
c.736G>T (p.Asp246Tyr)
c.1345G>T (p.Asp449Tyr)
c.1267G>T (p.Asp423Tyr)
4g.71451232A=CA1467213261SLC4A4c.1349A= (p.Asp450=)
c.1253A= (p.Asp418=)
c.1121A= (p.Asp374=)
n.1182A=
c.695A= (p.Asp232=)
c.1028A= (p.Asp343=)
c.737A= (p.Asp246=)
c.1346A= (p.Asp449=)
c.1268A= (p.Asp423=)
4g.71451232A>CCA357418336SLC4A4c.1349A>C (p.Asp450Ala)
c.1253A>C (p.Asp418Ala)
c.1121A>C (p.Asp374Ala)
n.1182A>C
c.695A>C (p.Asp232Ala)
c.1028A>C (p.Asp343Ala)
c.737A>C (p.Asp246Ala)
c.1346A>C (p.Asp449Ala)
c.1268A>C (p.Asp423Ala)
4g.71451232A>GCA357418337SLC4A4c.1349A>G (p.Asp450Gly)
c.1253A>G (p.Asp418Gly)
c.1121A>G (p.Asp374Gly)
n.1182A>G
c.695A>G (p.Asp232Gly)
c.1028A>G (p.Asp343Gly)
c.737A>G (p.Asp246Gly)
c.1346A>G (p.Asp449Gly)
c.1268A>G (p.Asp423Gly)
 dbSNP
4g.71451232A>TCA357418338SLC4A4c.1349A>T (p.Asp450Val)
c.1253A>T (p.Asp418Val)
c.1121A>T (p.Asp374Val)
n.1182A>T
c.695A>T (p.Asp232Val)
c.1028A>T (p.Asp343Val)
c.737A>T (p.Asp246Val)
c.1346A>T (p.Asp449Val)
c.1268A>T (p.Asp423Val)
4g.71451233T>ACA357418339SLC4A4c.1350T>A (p.Asp450Glu)
c.1254T>A (p.Asp418Glu)
c.1122T>A (p.Asp374Glu)
n.1183T>A
c.696T>A (p.Asp232Glu)
c.1029T>A (p.Asp343Glu)
c.738T>A (p.Asp246Glu)
c.1347T>A (p.Asp449Glu)
c.1269T>A (p.Asp423Glu)
4g.71451233T>CCA439875633SLC4A4c.1350T>C (p.Asp450=)
c.1254T>C (p.Asp418=)
c.1122T>C (p.Asp374=)
n.1183T>C
c.696T>C (p.Asp232=)
c.1029T>C (p.Asp343=)
c.738T>C (p.Asp246=)
c.1347T>C (p.Asp449=)
c.1269T>C (p.Asp423=)
4g.71451233T>GCA357418340SLC4A4c.1350T>G (p.Asp450Glu)
c.1254T>G (p.Asp418Glu)
c.1122T>G (p.Asp374Glu)
n.1183T>G
c.696T>G (p.Asp232Glu)
c.1029T>G (p.Asp343Glu)
c.738T>G (p.Asp246Glu)
c.1347T>G (p.Asp449Glu)
c.1269T>G (p.Asp423Glu)
4g.71451234A>CCA357418341SLC4A4c.1351A>C (p.Thr451Pro)
c.1255A>C (p.Thr419Pro)
c.1123A>C (p.Thr375Pro)
n.1184A>C
c.697A>C (p.Thr233Pro)
c.1030A>C (p.Thr344Pro)
c.739A>C (p.Thr247Pro)
c.1348A>C (p.Thr450Pro)
c.1270A>C (p.Thr424Pro)
4g.71451234A>GCA357418342SLC4A4c.1351A>G (p.Thr451Ala)
c.1255A>G (p.Thr419Ala)
c.1123A>G (p.Thr375Ala)
n.1184A>G
c.697A>G (p.Thr233Ala)
c.1030A>G (p.Thr344Ala)
c.739A>G (p.Thr247Ala)
c.1348A>G (p.Thr450Ala)
c.1270A>G (p.Thr424Ala)
4g.71451234A>TCA357418343SLC4A4c.1351A>T (p.Thr451Ser)
c.1255A>T (p.Thr419Ser)
c.1123A>T (p.Thr375Ser)
n.1184A>T
c.697A>T (p.Thr233Ser)
c.1030A>T (p.Thr344Ser)
c.739A>T (p.Thr247Ser)
c.1348A>T (p.Thr450Ser)
c.1270A>T (p.Thr424Ser)
4g.71451235C>ACA357418344SLC4A4c.1352C>A (p.Thr451Lys)
c.1256C>A (p.Thr419Lys)
c.1124C>A (p.Thr375Lys)
n.1185C>A
c.698C>A (p.Thr233Lys)
c.1031C>A (p.Thr344Lys)
c.740C>A (p.Thr247Lys)
c.1349C>A (p.Thr450Lys)
c.1271C>A (p.Thr424Lys)
4g.71451235C=CA1467213264SLC4A4c.1352C= (p.Thr451=)
c.1256C= (p.Thr419=)
c.1124C= (p.Thr375=)
n.1185C=
c.698C= (p.Thr233=)
c.1031C= (p.Thr344=)
c.740C= (p.Thr247=)
c.1349C= (p.Thr450=)
c.1271C= (p.Thr424=)
4g.71451235C>GCA357418345SLC4A4c.1352C>G (p.Thr451Arg)
c.1256C>G (p.Thr419Arg)
c.1124C>G (p.Thr375Arg)
n.1185C>G
c.698C>G (p.Thr233Arg)
c.1031C>G (p.Thr344Arg)
c.740C>G (p.Thr247Arg)
c.1349C>G (p.Thr450Arg)
c.1271C>G (p.Thr424Arg)
4g.71451235C>TCA2954774SLC4A4c.1352C>T (p.Thr451Met)
c.1256C>T (p.Thr419Met)
c.1124C>T (p.Thr375Met)
n.1185C>T
c.698C>T (p.Thr233Met)
c.1031C>T (p.Thr344Met)
c.740C>T (p.Thr247Met)
c.1349C>T (p.Thr450Met)
c.1271C>T (p.Thr424Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.71451235_71451236insACA645518925SLC4A4c.1352_1353insA (p.Pro452AlafsTer3)
c.1256_1257insA (p.Pro420AlafsTer3)
c.1124_1125insA (p.Pro376AlafsTer3)
n.1185_1186insA
c.698_699insA (p.Pro234AlafsTer3)
c.1031_1032insA (p.Pro345AlafsTer3)
c.740_741insA (p.Pro248AlafsTer3)
c.1349_1350insA (p.Pro451AlafsTer3)
c.1271_1272insA (p.Pro425AlafsTer3)
 COSMIC COSMIC
4g.71451236G>ACA2954775SLC4A4c.1353G>A (p.Thr451=)
c.1257G>A (p.Thr419=)
c.1125G>A (p.Thr375=)
n.1186G>A
c.699G>A (p.Thr233=)
c.1032G>A (p.Thr344=)
c.741G>A (p.Thr247=)
c.1350G>A (p.Thr450=)
c.1272G>A (p.Thr424=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.71451236G>CCA439875634SLC4A4c.1353G>C (p.Thr451=)
c.1257G>C (p.Thr419=)
c.1125G>C (p.Thr375=)
n.1186G>C
c.699G>C (p.Thr233=)
c.1032G>C (p.Thr344=)
c.741G>C (p.Thr247=)
c.1350G>C (p.Thr450=)
c.1272G>C (p.Thr424=)
 COSMIC COSMIC
4g.71451236G=CA1467213277SLC4A4c.1353G= (p.Thr451=)
c.1257G= (p.Thr419=)
c.1125G= (p.Thr375=)
n.1186G=
c.699G= (p.Thr233=)
c.1032G= (p.Thr344=)
c.741G= (p.Thr247=)
c.1350G= (p.Thr450=)
c.1272G= (p.Thr424=)
4g.71451236G>TCA439875635SLC4A4c.1353G>T (p.Thr451=)
c.1257G>T (p.Thr419=)
c.1125G>T (p.Thr375=)
n.1186G>T
c.699G>T (p.Thr233=)
c.1032G>T (p.Thr344=)
c.741G>T (p.Thr247=)
c.1350G>T (p.Thr450=)
c.1272G>T (p.Thr424=)
4g.71451237C>ACA357418347SLC4A4c.1354C>A (p.Pro452Thr)
c.1258C>A (p.Pro420Thr)
c.1126C>A (p.Pro376Thr)
n.1187C>A
c.700C>A (p.Pro234Thr)
c.1033C>A (p.Pro345Thr)
c.742C>A (p.Pro248Thr)
c.1351C>A (p.Pro451Thr)
c.1273C>A (p.Pro425Thr)
 dbSNP
4g.71451237C=CA1467213284SLC4A4c.1354C= (p.Pro452=)
c.1258C= (p.Pro420=)
c.1126C= (p.Pro376=)
n.1187C=
c.700C= (p.Pro234=)
c.1033C= (p.Pro345=)
c.742C= (p.Pro248=)
c.1351C= (p.Pro451=)
c.1273C= (p.Pro425=)
4g.71451237C>GCA357418346SLC4A4c.1354C>G (p.Pro452Ala)
c.1258C>G (p.Pro420Ala)
c.1126C>G (p.Pro376Ala)
n.1187C>G
c.700C>G (p.Pro234Ala)
c.1033C>G (p.Pro345Ala)
c.742C>G (p.Pro248Ala)
c.1351C>G (p.Pro451Ala)
c.1273C>G (p.Pro425Ala)
4g.71451237C>TCA2954776SLC4A4c.1354C>T (p.Pro452Ser)
c.1258C>T (p.Pro420Ser)
c.1126C>T (p.Pro376Ser)
n.1187C>T
c.700C>T (p.Pro234Ser)
c.1033C>T (p.Pro345Ser)
c.742C>T (p.Pro248Ser)
c.1351C>T (p.Pro451Ser)
c.1273C>T (p.Pro425Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.71451238C>ACA357418348SLC4A4c.1355C>A (p.Pro452His)
c.1259C>A (p.Pro420His)
c.1127C>A (p.Pro376His)
n.1188C>A
c.701C>A (p.Pro234His)
c.1034C>A (p.Pro345His)
c.743C>A (p.Pro248His)
c.1352C>A (p.Pro451His)
c.1274C>A (p.Pro425His)
4g.71451238C>GCA357418350SLC4A4c.1355C>G (p.Pro452Arg)
c.1259C>G (p.Pro420Arg)
c.1127C>G (p.Pro376Arg)
n.1188C>G
c.701C>G (p.Pro234Arg)
c.1034C>G (p.Pro345Arg)
c.743C>G (p.Pro248Arg)
c.1352C>G (p.Pro451Arg)
c.1274C>G (p.Pro425Arg)
 gnomAD v4
4g.71451238C>TCA357418349SLC4A4c.1355C>T (p.Pro452Leu)
c.1259C>T (p.Pro420Leu)
c.1127C>T (p.Pro376Leu)
n.1188C>T
c.701C>T (p.Pro234Leu)
c.1034C>T (p.Pro345Leu)
c.743C>T (p.Pro248Leu)
c.1352C>T (p.Pro451Leu)
c.1274C>T (p.Pro425Leu)
 gnomAD v4
4g.71451239C>ACA439875636SLC4A4c.1356C>A (p.Pro452=)
c.1260C>A (p.Pro420=)
c.1128C>A (p.Pro376=)
n.1189C>A
c.702C>A (p.Pro234=)
c.1035C>A (p.Pro345=)
c.744C>A (p.Pro248=)
c.1353C>A (p.Pro451=)
c.1275C>A (p.Pro425=)
4g.71451239C=CA1467213295SLC4A4c.1356C= (p.Pro452=)
c.1260C= (p.Pro420=)
c.1128C= (p.Pro376=)
n.1189C=
c.702C= (p.Pro234=)
c.1035C= (p.Pro345=)
c.744C= (p.Pro248=)
c.1353C= (p.Pro451=)
c.1275C= (p.Pro425=)
4g.71451239C>GCA2954777SLC4A4c.1356C>G (p.Pro452=)
c.1260C>G (p.Pro420=)
c.1128C>G (p.Pro376=)
n.1189C>G
c.702C>G (p.Pro234=)
c.1035C>G (p.Pro345=)
c.744C>G (p.Pro248=)
c.1353C>G (p.Pro451=)
c.1275C>G (p.Pro425=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.71451239C>TCA439875637SLC4A4c.1356C>T (p.Pro452=)
c.1260C>T (p.Pro420=)
c.1128C>T (p.Pro376=)
n.1189C>T
c.702C>T (p.Pro234=)
c.1035C>T (p.Pro345=)
c.744C>T (p.Pro248=)
c.1353C>T (p.Pro451=)
c.1275C>T (p.Pro425=)
 gnomAD v4
4g.71451240C>ACA2954779SLC4A4c.1357C>A (p.His453Asn)
c.1261C>A (p.His421Asn)
c.1129C>A (p.His377Asn)
n.1190C>A
c.703C>A (p.His235Asn)
c.1036C>A (p.His346Asn)
c.745C>A (p.His249Asn)
c.1354C>A (p.His452Asn)
c.1276C>A (p.His426Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.71451240C=CA1467213305SLC4A4c.1357C= (p.His453=)
c.1261C= (p.His421=)
c.1129C= (p.His377=)
n.1190C=
c.703C= (p.His235=)
c.1036C= (p.His346=)
c.745C= (p.His249=)
c.1354C= (p.His452=)
c.1276C= (p.His426=)
4g.71451240C>GCA357418351SLC4A4c.1357C>G (p.His453Asp)
c.1261C>G (p.His421Asp)
c.1129C>G (p.His377Asp)
n.1190C>G
c.703C>G (p.His235Asp)
c.1036C>G (p.His346Asp)
c.745C>G (p.His249Asp)
c.1354C>G (p.His452Asp)
c.1276C>G (p.His426Asp)
4g.71451240C>TCA2954778SLC4A4c.1357C>T (p.His453Tyr)
c.1261C>T (p.His421Tyr)
c.1129C>T (p.His377Tyr)
n.1190C>T
c.703C>T (p.His235Tyr)
c.1036C>T (p.His346Tyr)
c.745C>T (p.His249Tyr)
c.1354C>T (p.His452Tyr)
c.1276C>T (p.His426Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.71451241A=CA1467213316SLC4A4c.1358A= (p.His453=)
c.1262A= (p.His421=)
c.1130A= (p.His377=)
n.1191A=
c.704A= (p.His235=)
c.1037A= (p.His346=)
c.746A= (p.His249=)
c.1355A= (p.His452=)
c.1277A= (p.His426=)
4g.71451241A>CCA357418352SLC4A4c.1358A>C (p.His453Pro)
c.1262A>C (p.His421Pro)
c.1130A>C (p.His377Pro)
n.1191A>C
c.704A>C (p.His235Pro)
c.1037A>C (p.His346Pro)
c.746A>C (p.His249Pro)
c.1355A>C (p.His452Pro)
c.1277A>C (p.His426Pro)
4g.71451241A>GCA2954780SLC4A4c.1358A>G (p.His453Arg)
c.1262A>G (p.His421Arg)
c.1130A>G (p.His377Arg)
n.1191A>G
c.704A>G (p.His235Arg)
c.1037A>G (p.His346Arg)
c.746A>G (p.His249Arg)
c.1355A>G (p.His452Arg)
c.1277A>G (p.His426Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.71451241A>TCA357418353SLC4A4c.1358A>T (p.His453Leu)
c.1262A>T (p.His421Leu)
c.1130A>T (p.His377Leu)
n.1191A>T
c.704A>T (p.His235Leu)
c.1037A>T (p.His346Leu)
c.746A>T (p.His249Leu)
c.1355A>T (p.His452Leu)
c.1277A>T (p.His426Leu)
4g.71451242T>ACA357418354SLC4A4c.1359T>A (p.His453Gln)
c.1263T>A (p.His421Gln)
c.1131T>A (p.His377Gln)
n.1192T>A
c.705T>A (p.His235Gln)
c.1038T>A (p.His346Gln)
c.747T>A (p.His249Gln)
c.1356T>A (p.His452Gln)
c.1278T>A (p.His426Gln)
 dbSNP gnomAD v2 gnomAD v4
4g.71451242T>CCA439875638SLC4A4c.1359T>C (p.His453=)
c.1263T>C (p.His421=)
c.1131T>C (p.His377=)
n.1192T>C
c.705T>C (p.His235=)
c.1038T>C (p.His346=)
c.747T>C (p.His249=)
c.1356T>C (p.His452=)
c.1278T>C (p.His426=)
4g.71451242T>GCA357418355SLC4A4c.1359T>G (p.His453Gln)
c.1263T>G (p.His421Gln)
c.1131T>G (p.His377Gln)
n.1192T>G
c.705T>G (p.His235Gln)
c.1038T>G (p.His346Gln)
c.747T>G (p.His249Gln)
c.1356T>G (p.His452Gln)
c.1278T>G (p.His426Gln)
4g.71451242T=CA1467213321SLC4A4c.1359T= (p.His453=)
c.1263T= (p.His421=)
c.1131T= (p.His377=)
n.1192T=
c.705T= (p.His235=)
c.1038T= (p.His346=)
c.747T= (p.His249=)
c.1356T= (p.His452=)
c.1278T= (p.His426=)
4g.71451243G>ACA357418356SLC4A4c.1360G>A (p.Asp454Asn)
c.1264G>A (p.Asp422Asn)
c.1132G>A (p.Asp378Asn)
n.1193G>A
c.706G>A (p.Asp236Asn)
c.1039G>A (p.Asp347Asn)
c.748G>A (p.Asp250Asn)
c.1357G>A (p.Asp453Asn)
c.1279G>A (p.Asp427Asn)
 COSMIC COSMIC
4g.71451243G>CCA357418357SLC4A4c.1360G>C (p.Asp454His)
c.1264G>C (p.Asp422His)
c.1132G>C (p.Asp378His)
n.1193G>C
c.706G>C (p.Asp236His)
c.1039G>C (p.Asp347His)
c.748G>C (p.Asp250His)
c.1357G>C (p.Asp453His)
c.1279G>C (p.Asp427His)
4g.71451243G>TCA357418358SLC4A4c.1360G>T (p.Asp454Tyr)
c.1264G>T (p.Asp422Tyr)
c.1132G>T (p.Asp378Tyr)
n.1193G>T
c.706G>T (p.Asp236Tyr)
c.1039G>T (p.Asp347Tyr)
c.748G>T (p.Asp250Tyr)
c.1357G>T (p.Asp453Tyr)
c.1279G>T (p.Asp427Tyr)
4g.71451244A>CCA357418361SLC4A4c.1361A>C (p.Asp454Ala)
c.1265A>C (p.Asp422Ala)
c.1133A>C (p.Asp378Ala)
n.1194A>C
c.707A>C (p.Asp236Ala)
c.1040A>C (p.Asp347Ala)
c.749A>C (p.Asp250Ala)
c.1358A>C (p.Asp453Ala)
c.1280A>C (p.Asp427Ala)
4g.71451244A>GCA357418359SLC4A4c.1361A>G (p.Asp454Gly)
c.1265A>G (p.Asp422Gly)
c.1133A>G (p.Asp378Gly)
n.1194A>G
c.707A>G (p.Asp236Gly)
c.1040A>G (p.Asp347Gly)
c.749A>G (p.Asp250Gly)
c.1358A>G (p.Asp453Gly)
c.1280A>G (p.Asp427Gly)
 gnomAD v4
4g.71451244A>TCA357418360SLC4A4c.1361A>T (p.Asp454Val)
c.1265A>T (p.Asp422Val)
c.1133A>T (p.Asp378Val)
n.1194A>T
c.707A>T (p.Asp236Val)
c.1040A>T (p.Asp347Val)
c.749A>T (p.Asp250Val)
c.1358A>T (p.Asp453Val)
c.1280A>T (p.Asp427Val)
4g.71451245T>ACA357418362SLC4A4c.1362T>A (p.Asp454Glu)
c.1266T>A (p.Asp422Glu)
c.1134T>A (p.Asp378Glu)
n.1195T>A
c.708T>A (p.Asp236Glu)
c.1041T>A (p.Asp347Glu)
c.750T>A (p.Asp250Glu)
c.1359T>A (p.Asp453Glu)
c.1281T>A (p.Asp427Glu)
4g.71451245T>CCA439875639SLC4A4c.1362T>C (p.Asp454=)
c.1266T>C (p.Asp422=)
c.1134T>C (p.Asp378=)
n.1195T>C
c.708T>C (p.Asp236=)
c.1041T>C (p.Asp347=)
c.750T>C (p.Asp250=)
c.1359T>C (p.Asp453=)
c.1281T>C (p.Asp427=)
4g.71451245T>GCA357418363SLC4A4c.1362T>G (p.Asp454Glu)
c.1266T>G (p.Asp422Glu)
c.1134T>G (p.Asp378Glu)
n.1195T>G
c.708T>G (p.Asp236Glu)
c.1041T>G (p.Asp347Glu)
c.750T>G (p.Asp250Glu)
c.1359T>G (p.Asp453Glu)
c.1281T>G (p.Asp427Glu)
4g.71451246G>ACA357418364SLC4A4c.1363G>A (p.Gly455Arg)
c.1267G>A (p.Gly423Arg)
c.1135G>A (p.Gly379Arg)
n.1196G>A
c.709G>A (p.Gly237Arg)
c.1042G>A (p.Gly348Arg)
c.751G>A (p.Gly251Arg)
c.1360G>A (p.Gly454Arg)
c.1282G>A (p.Gly428Arg)
4g.71451246G>CCA357418365SLC4A4c.1363G>C (p.Gly455Arg)
c.1267G>C (p.Gly423Arg)
c.1135G>C (p.Gly379Arg)
n.1196G>C
c.709G>C (p.Gly237Arg)
c.1042G>C (p.Gly348Arg)
c.751G>C (p.Gly251Arg)
c.1360G>C (p.Gly454Arg)
c.1282G>C (p.Gly428Arg)
4g.71451246G>TCA357418366SLC4A4c.1363G>T (p.Gly455Ter)
c.1267G>T (p.Gly423Ter)
c.1135G>T (p.Gly379Ter)
n.1196G>T
c.709G>T (p.Gly237Ter)
c.1042G>T (p.Gly348Ter)
c.751G>T (p.Gly251Ter)
c.1360G>T (p.Gly454Ter)
c.1282G>T (p.Gly428Ter)
4g.71451247G>ACA357418367SLC4A4c.1364G>A (p.Gly455Glu)
c.1268G>A (p.Gly423Glu)
c.1136G>A (p.Gly379Glu)
n.1197G>A
c.710G>A (p.Gly237Glu)
c.1043G>A (p.Gly348Glu)
c.752G>A (p.Gly251Glu)
c.1361G>A (p.Gly454Glu)
c.1283G>A (p.Gly428Glu)
4g.71451247G>CCA357418368SLC4A4c.1364G>C (p.Gly455Ala)
c.1268G>C (p.Gly423Ala)
c.1136G>C (p.Gly379Ala)
n.1197G>C
c.710G>C (p.Gly237Ala)
c.1043G>C (p.Gly348Ala)
c.752G>C (p.Gly251Ala)
c.1361G>C (p.Gly454Ala)
c.1283G>C (p.Gly428Ala)
 dbSNP gnomAD v3 gnomAD v4
4g.71451247G=CA1467213327SLC4A4c.1364G= (p.Gly455=)
c.1268G= (p.Gly423=)
c.1136G= (p.Gly379=)
n.1197G=
c.710G= (p.Gly237=)
c.1043G= (p.Gly348=)
c.752G= (p.Gly251=)
c.1361G= (p.Gly454=)
c.1283G= (p.Gly428=)
4g.71451247G>TCA357418369SLC4A4c.1364G>T (p.Gly455Val)
c.1268G>T (p.Gly423Val)
c.1136G>T (p.Gly379Val)
n.1197G>T
c.710G>T (p.Gly237Val)
c.1043G>T (p.Gly348Val)
c.752G>T (p.Gly251Val)
c.1361G>T (p.Gly454Val)
c.1283G>T (p.Gly428Val)
4g.71451248A>CCA439875642SLC4A4c.1365A>C (p.Gly455=)
c.1269A>C (p.Gly423=)
c.1137A>C (p.Gly379=)
n.1198A>C
c.711A>C (p.Gly237=)
c.1044A>C (p.Gly348=)
c.753A>C (p.Gly251=)
c.1362A>C (p.Gly454=)
c.1284A>C (p.Gly428=)
4g.71451248A>GCA439875641SLC4A4c.1365A>G (p.Gly455=)
c.1269A>G (p.Gly423=)
c.1137A>G (p.Gly379=)
n.1198A>G
c.711A>G (p.Gly237=)
c.1044A>G (p.Gly348=)
c.753A>G (p.Gly251=)
c.1362A>G (p.Gly454=)
c.1284A>G (p.Gly428=)
4g.71451248A>TCA439875640SLC4A4c.1365A>T (p.Gly455=)
c.1269A>T (p.Gly423=)
c.1137A>T (p.Gly379=)
n.1198A>T
c.711A>T (p.Gly237=)
c.1044A>T (p.Gly348=)
c.753A>T (p.Gly251=)
c.1362A>T (p.Gly454=)
c.1284A>T (p.Gly428=)
4g.71451249G>ACA357418370SLC4A4c.1366G>A (p.Gly456Ser)
c.1270G>A (p.Gly424Ser)
c.1138G>A (p.Gly380Ser)
n.1199G>A
c.712G>A (p.Gly238Ser)
c.1045G>A (p.Gly349Ser)
c.754G>A (p.Gly252Ser)
c.1363G>A (p.Gly455Ser)
c.1285G>A (p.Gly429Ser)
4g.71451249G>CCA357418371SLC4A4c.1366G>C (p.Gly456Arg)
c.1270G>C (p.Gly424Arg)
c.1138G>C (p.Gly380Arg)
n.1199G>C
c.712G>C (p.Gly238Arg)
c.1045G>C (p.Gly349Arg)
c.754G>C (p.Gly252Arg)
c.1363G>C (p.Gly455Arg)
c.1285G>C (p.Gly429Arg)
4g.71451249G>TCA357418372SLC4A4c.1366G>T (p.Gly456Cys)
c.1270G>T (p.Gly424Cys)
c.1138G>T (p.Gly380Cys)
n.1199G>T
c.712G>T (p.Gly238Cys)
c.1045G>T (p.Gly349Cys)
c.754G>T (p.Gly252Cys)
c.1363G>T (p.Gly455Cys)
c.1285G>T (p.Gly429Cys)
4g.71451250G>ACA2954781SLC4A4c.1367G>A (p.Gly456Asp)
c.1271G>A (p.Gly424Asp)
c.1139G>A (p.Gly380Asp)
n.1200G>A
c.713G>A (p.Gly238Asp)
c.1046G>A (p.Gly349Asp)
c.755G>A (p.Gly252Asp)
c.1364G>A (p.Gly455Asp)
c.1286G>A (p.Gly429Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.71451250G>CCA357418374SLC4A4c.1367G>C (p.Gly456Ala)
c.1271G>C (p.Gly424Ala)
c.1139G>C (p.Gly380Ala)
n.1200G>C
c.713G>C (p.Gly238Ala)
c.1046G>C (p.Gly349Ala)
c.755G>C (p.Gly252Ala)
c.1364G>C (p.Gly455Ala)
c.1286G>C (p.Gly429Ala)
 gnomAD v4
4g.71451250G=CA1467213337SLC4A4c.1367G= (p.Gly456=)
c.1271G= (p.Gly424=)
c.1139G= (p.Gly380=)
n.1200G=
c.713G= (p.Gly238=)
c.1046G= (p.Gly349=)
c.755G= (p.Gly252=)
c.1364G= (p.Gly455=)
c.1286G= (p.Gly429=)
4g.71451250G>TCA357418373SLC4A4c.1367G>T (p.Gly456Val)
c.1271G>T (p.Gly424Val)
c.1139G>T (p.Gly380Val)
n.1200G>T
c.713G>T (p.Gly238Val)
c.1046G>T (p.Gly349Val)
c.755G>T (p.Gly252Val)
c.1364G>T (p.Gly455Val)
c.1286G>T (p.Gly429Val)
4g.71451251T>ACA439875643SLC4A4c.1368T>A (p.Gly456=)
c.1272T>A (p.Gly424=)
c.1140T>A (p.Gly380=)
n.1201T>A
c.714T>A (p.Gly238=)
c.1047T>A (p.Gly349=)
c.756T>A (p.Gly252=)
c.1365T>A (p.Gly455=)
c.1287T>A (p.Gly429=)
4g.71451251T>CCA439875644SLC4A4c.1368T>C (p.Gly456=)
c.1272T>C (p.Gly424=)
c.1140T>C (p.Gly380=)
n.1201T>C
c.714T>C (p.Gly238=)
c.1047T>C (p.Gly349=)
c.756T>C (p.Gly252=)
c.1365T>C (p.Gly455=)
c.1287T>C (p.Gly429=)
4g.71451251T>GCA439875645SLC4A4c.1368T>G (p.Gly456=)
c.1272T>G (p.Gly424=)
c.1140T>G (p.Gly380=)
n.1201T>G
c.714T>G (p.Gly238=)
c.1047T>G (p.Gly349=)
c.756T>G (p.Gly252=)
c.1365T>G (p.Gly455=)
c.1287T>G (p.Gly429=)
4g.71451252C>ACA357418377SLC4A4c.1369C>A (p.His457Asn)
c.1273C>A (p.His425Asn)
c.1141C>A (p.His381Asn)
n.1202C>A
c.715C>A (p.His239Asn)
c.1048C>A (p.His350Asn)
c.757C>A (p.His253Asn)
c.1366C>A (p.His456Asn)
c.1288C>A (p.His430Asn)
4g.71451252C>GCA357418375SLC4A4c.1369C>G (p.His457Asp)
c.1273C>G (p.His425Asp)
c.1141C>G (p.His381Asp)
n.1202C>G
c.715C>G (p.His239Asp)
c.1048C>G (p.His350Asp)
c.757C>G (p.His253Asp)
c.1366C>G (p.His456Asp)
c.1288C>G (p.His430Asp)
4g.71451252C>TCA357418376SLC4A4c.1369C>T (p.His457Tyr)
c.1273C>T (p.His425Tyr)
c.1141C>T (p.His381Tyr)
n.1202C>T
c.715C>T (p.His239Tyr)
c.1048C>T (p.His350Tyr)
c.757C>T (p.His253Tyr)
c.1366C>T (p.His456Tyr)
c.1288C>T (p.His430Tyr)
4g.71451253A>CCA357418378SLC4A4c.1370A>C (p.His457Pro)
c.1274A>C (p.His425Pro)
c.1142A>C (p.His381Pro)
n.1203A>C
c.716A>C (p.His239Pro)
c.1049A>C (p.His350Pro)
c.758A>C (p.His253Pro)
c.1367A>C (p.His456Pro)
c.1289A>C (p.His430Pro)
4g.71451253A>GCA357418379SLC4A4c.1370A>G (p.His457Arg)
c.1274A>G (p.His425Arg)
c.1142A>G (p.His381Arg)
n.1203A>G
c.716A>G (p.His239Arg)
c.1049A>G (p.His350Arg)
c.758A>G (p.His253Arg)
c.1367A>G (p.His456Arg)
c.1289A>G (p.His430Arg)
4g.71451253A>TCA357418380SLC4A4c.1370A>T (p.His457Leu)
c.1274A>T (p.His425Leu)
c.1142A>T (p.His381Leu)
n.1203A>T
c.716A>T (p.His239Leu)
c.1049A>T (p.His350Leu)
c.758A>T (p.His253Leu)
c.1367A>T (p.His456Leu)
c.1289A>T (p.His430Leu)
4g.71451254C>ACA357418382SLC4A4c.1371C>A (p.His457Gln)
c.1275C>A (p.His425Gln)
c.1143C>A (p.His381Gln)
n.1204C>A
c.717C>A (p.His239Gln)
c.1050C>A (p.His350Gln)
c.759C>A (p.His253Gln)
c.1368C>A (p.His456Gln)
c.1290C>A (p.His430Gln)
4g.71451254C=CA1467213349SLC4A4c.1371C= (p.His457=)
c.1275C= (p.His425=)
c.1143C= (p.His381=)
n.1204C=
c.717C= (p.His239=)
c.1050C= (p.His350=)
c.759C= (p.His253=)
c.1368C= (p.His456=)
c.1290C= (p.His430=)
4g.71451254C>GCA357418381SLC4A4c.1371C>G (p.His457Gln)
c.1275C>G (p.His425Gln)
c.1143C>G (p.His381Gln)
n.1204C>G
c.717C>G (p.His239Gln)
c.1050C>G (p.His350Gln)
c.759C>G (p.His253Gln)
c.1368C>G (p.His456Gln)
c.1290C>G (p.His430Gln)
4g.71451254C>TCA2954782SLC4A4c.1371C>T (p.His457=)
c.1275C>T (p.His425=)
c.1143C>T (p.His381=)
n.1204C>T
c.717C>T (p.His239=)
c.1050C>T (p.His350=)
c.759C>T (p.His253=)
c.1368C>T (p.His456=)
c.1290C>T (p.His430=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.71451254_71451257delinsCGGACA1467213352SLC4A4c.1371_1374delinsCGGA (p.His457=)
c.1275_1278delinsCGGA (p.His425=)
c.1143_1146delinsCGGA (p.His381=)
n.1204_1207delinsCGGA
c.717_720delinsCGGA (p.His239=)
c.1050_1053delinsCGGA (p.His350=)
c.759_762delinsCGGA (p.His253=)
c.1368_1371delinsCGGA (p.His456=)
c.1290_1293delinsCGGA (p.His430=)
4g.71451255G>ACA2954783SLC4A4c.1372G>A (p.Gly458Arg)
c.1276G>A (p.Gly426Arg)
c.1144G>A (p.Gly382Arg)
n.1205G>A
c.718G>A (p.Gly240Arg)
c.1051G>A (p.Gly351Arg)
c.760G>A (p.Gly254Arg)
c.1369G>A (p.Gly457Arg)
c.1291G>A (p.Gly431Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.71451255G>CCA357418383SLC4A4c.1372G>C (p.Gly458Arg)
c.1276G>C (p.Gly426Arg)
c.1144G>C (p.Gly382Arg)
n.1205G>C
c.718G>C (p.Gly240Arg)
c.1051G>C (p.Gly351Arg)
c.760G>C (p.Gly254Arg)
c.1369G>C (p.Gly457Arg)
c.1291G>C (p.Gly431Arg)
4g.71451255G=CA1467213370SLC4A4c.1372G= (p.Gly458=)
c.1276G= (p.Gly426=)
c.1144G= (p.Gly382=)
n.1205G=
c.718G= (p.Gly240=)
c.1051G= (p.Gly351=)
c.760G= (p.Gly254=)
c.1369G= (p.Gly457=)
c.1291G= (p.Gly431=)
4g.71451255G>TCA357418384SLC4A4c.1372G>T (p.Gly458Ter)
c.1276G>T (p.Gly426Ter)
c.1144G>T (p.Gly382Ter)
n.1205G>T
c.718G>T (p.Gly240Ter)
c.1051G>T (p.Gly351Ter)
c.760G>T (p.Gly254Ter)
c.1369G>T (p.Gly457Ter)
c.1291G>T (p.Gly431Ter)
 gnomAD v4
4g.71451264_71451266delCA917223308SLC4A4c.1381_1383del (p.Gly461del)
c.1285_1287del (p.Gly429del)
c.1153_1155del (p.Gly385del)
n.1214_1216del
c.727_729del (p.Gly243del)
c.1060_1062del (p.Gly354del)
c.769_771del (p.Gly257del)
c.1378_1380del (p.Gly460del)
c.1300_1302del (p.Gly434del)
 dbSNP gnomAD v4
4g.71451256G>ACA357418385SLC4A4c.1373G>A (p.Gly458Glu)
c.1277G>A (p.Gly426Glu)
c.1145G>A (p.Gly382Glu)
n.1206G>A
c.719G>A (p.Gly240Glu)
c.1052G>A (p.Gly351Glu)
c.761G>A (p.Gly254Glu)
c.1370G>A (p.Gly457Glu)
c.1292G>A (p.Gly431Glu)
4g.71451256G>CCA357418386SLC4A4c.1373G>C (p.Gly458Ala)
c.1277G>C (p.Gly426Ala)
c.1145G>C (p.Gly382Ala)
n.1206G>C
c.719G>C (p.Gly240Ala)
c.1052G>C (p.Gly351Ala)
c.761G>C (p.Gly254Ala)
c.1370G>C (p.Gly457Ala)
c.1292G>C (p.Gly431Ala)
4g.71451256G>TCA357418387SLC4A4c.1373G>T (p.Gly458Val)
c.1277G>T (p.Gly426Val)
c.1145G>T (p.Gly382Val)
n.1206G>T
c.719G>T (p.Gly240Val)
c.1052G>T (p.Gly351Val)
c.761G>T (p.Gly254Val)
c.1370G>T (p.Gly457Val)
c.1292G>T (p.Gly431Val)
4g.71451257A>CCA439875646SLC4A4c.1374A>C (p.Gly458=)
c.1278A>C (p.Gly426=)
c.1146A>C (p.Gly382=)
n.1207A>C
c.720A>C (p.Gly240=)
c.1053A>C (p.Gly351=)
c.762A>C (p.Gly254=)
c.1371A>C (p.Gly457=)
c.1293A>C (p.Gly431=)
4g.71451257A>GCA439875647SLC4A4c.1374A>G (p.Gly458=)
c.1278A>G (p.Gly426=)
c.1146A>G (p.Gly382=)
n.1207A>G
c.720A>G (p.Gly240=)
c.1053A>G (p.Gly351=)
c.762A>G (p.Gly254=)
c.1371A>G (p.Gly457=)
c.1293A>G (p.Gly431=)
4g.71451257A>TCA439875648SLC4A4c.1374A>T (p.Gly458=)
c.1278A>T (p.Gly426=)
c.1146A>T (p.Gly382=)
n.1207A>T
c.720A>T (p.Gly240=)
c.1053A>T (p.Gly351=)
c.762A>T (p.Gly254=)
c.1371A>T (p.Gly457=)
c.1293A>T (p.Gly431=)
4g.71451258G>ACA357418388SLC4A4c.1375G>A (p.Gly459Arg)
c.1279G>A (p.Gly427Arg)
c.1147G>A (p.Gly383Arg)
n.1208G>A
c.721G>A (p.Gly241Arg)
c.1054G>A (p.Gly352Arg)
c.763G>A (p.Gly255Arg)
c.1372G>A (p.Gly458Arg)
c.1294G>A (p.Gly432Arg)
4g.71451258G>CCA357418390SLC4A4c.1375G>C (p.Gly459Arg)
c.1279G>C (p.Gly427Arg)
c.1147G>C (p.Gly383Arg)
n.1208G>C
c.721G>C (p.Gly241Arg)
c.1054G>C (p.Gly352Arg)
c.763G>C (p.Gly255Arg)
c.1372G>C (p.Gly458Arg)
c.1294G>C (p.Gly432Arg)
4g.71451258G>TCA357418389SLC4A4c.1375G>T (p.Gly459Ter)
c.1279G>T (p.Gly427Ter)
c.1147G>T (p.Gly383Ter)
n.1208G>T
c.721G>T (p.Gly241Ter)
c.1054G>T (p.Gly352Ter)
c.763G>T (p.Gly255Ter)
c.1372G>T (p.Gly458Ter)
c.1294G>T (p.Gly432Ter)
4g.71451259G>ACA357418391SLC4A4c.1376G>A (p.Gly459Glu)
c.1280G>A (p.Gly427Glu)
c.1148G>A (p.Gly383Glu)
n.1209G>A
c.722G>A (p.Gly241Glu)
c.1055G>A (p.Gly352Glu)
c.764G>A (p.Gly255Glu)
c.1373G>A (p.Gly458Glu)
c.1295G>A (p.Gly432Glu)
 dbSNP COSMIC COSMIC
4g.71451259G>CCA357418392SLC4A4c.1376G>C (p.Gly459Ala)
c.1280G>C (p.Gly427Ala)
c.1148G>C (p.Gly383Ala)
n.1209G>C
c.722G>C (p.Gly241Ala)
c.1055G>C (p.Gly352Ala)
c.764G>C (p.Gly255Ala)
c.1373G>C (p.Gly458Ala)
c.1295G>C (p.Gly432Ala)
4g.71451259G>TCA357418393SLC4A4c.1376G>T (p.Gly459Val)
c.1280G>T (p.Gly427Val)
c.1148G>T (p.Gly383Val)
n.1209G>T
c.722G>T (p.Gly241Val)
c.1055G>T (p.Gly352Val)
c.764G>T (p.Gly255Val)
c.1373G>T (p.Gly458Val)
c.1295G>T (p.Gly432Val)
4g.71451260A>CCA439875649SLC4A4c.1377A>C (p.Gly459=)
c.1281A>C (p.Gly427=)
c.1149A>C (p.Gly383=)
n.1210A>C
c.723A>C (p.Gly241=)
c.1056A>C (p.Gly352=)
c.765A>C (p.Gly255=)
c.1374A>C (p.Gly458=)
c.1296A>C (p.Gly432=)
4g.71451260A>GCA439875650SLC4A4c.1377A>G (p.Gly459=)
c.1281A>G (p.Gly427=)
c.1149A>G (p.Gly383=)
n.1210A>G
c.723A>G (p.Gly241=)
c.1056A>G (p.Gly352=)
c.765A>G (p.Gly255=)
c.1374A>G (p.Gly458=)
c.1296A>G (p.Gly432=)
4g.71451260A>TCA439875651SLC4A4c.1377A>T (p.Gly459=)
c.1281A>T (p.Gly427=)
c.1149A>T (p.Gly383=)
n.1210A>T
c.723A>T (p.Gly241=)
c.1056A>T (p.Gly352=)
c.765A>T (p.Gly255=)
c.1374A>T (p.Gly458=)
c.1296A>T (p.Gly432=)
4g.71451261G>ACA357418394SLC4A4c.1378G>A (p.Gly460Arg)
c.1282G>A (p.Gly428Arg)
c.1150G>A (p.Gly384Arg)
n.1211G>A
c.724G>A (p.Gly242Arg)
c.1057G>A (p.Gly353Arg)
c.766G>A (p.Gly256Arg)
c.1375G>A (p.Gly459Arg)
c.1297G>A (p.Gly433Arg)
4g.71451261G>CCA357418395SLC4A4c.1378G>C (p.Gly460Arg)
c.1282G>C (p.Gly428Arg)
c.1150G>C (p.Gly384Arg)
n.1211G>C
c.724G>C (p.Gly242Arg)
c.1057G>C (p.Gly353Arg)
c.766G>C (p.Gly256Arg)
c.1375G>C (p.Gly459Arg)
c.1297G>C (p.Gly433Arg)
4g.71451261G>TCA357418396SLC4A4c.1378G>T (p.Gly460Ter)
c.1282G>T (p.Gly428Ter)
c.1150G>T (p.Gly384Ter)
n.1211G>T
c.724G>T (p.Gly242Ter)
c.1057G>T (p.Gly353Ter)
c.766G>T (p.Gly256Ter)
c.1375G>T (p.Gly459Ter)
c.1297G>T (p.Gly433Ter)
4g.71451262G>ACA357418397SLC4A4c.1379G>A (p.Gly460Glu)
c.1283G>A (p.Gly428Glu)
c.1151G>A (p.Gly384Glu)
n.1212G>A
c.725G>A (p.Gly242Glu)
c.1058G>A (p.Gly353Glu)
c.767G>A (p.Gly256Glu)
c.1376G>A (p.Gly459Glu)
c.1298G>A (p.Gly433Glu)
4g.71451262G>CCA357418398SLC4A4c.1379G>C (p.Gly460Ala)
c.1283G>C (p.Gly428Ala)
c.1151G>C (p.Gly384Ala)
n.1212G>C
c.725G>C (p.Gly242Ala)
c.1058G>C (p.Gly353Ala)
c.767G>C (p.Gly256Ala)
c.1376G>C (p.Gly459Ala)
c.1298G>C (p.Gly433Ala)
4g.71451262G>TCA357418399SLC4A4c.1379G>T (p.Gly460Val)
c.1283G>T (p.Gly428Val)
c.1151G>T (p.Gly384Val)
n.1212G>T
c.725G>T (p.Gly242Val)
c.1058G>T (p.Gly353Val)
c.767G>T (p.Gly256Val)
c.1376G>T (p.Gly459Val)
c.1298G>T (p.Gly433Val)
4g.71451263A=CA1467213375SLC4A4c.1380A= (p.Gly460=)
c.1284A= (p.Gly428=)
c.1152A= (p.Gly384=)
n.1213A=
c.726A= (p.Gly242=)
c.1059A= (p.Gly353=)
c.768A= (p.Gly256=)
c.1377A= (p.Gly459=)
c.1299A= (p.Gly433=)
4g.71451263A>CCA439875654SLC4A4c.1380A>C (p.Gly460=)
c.1284A>C (p.Gly428=)
c.1152A>C (p.Gly384=)
n.1213A>C
c.726A>C (p.Gly242=)
c.1059A>C (p.Gly353=)
c.768A>C (p.Gly256=)
c.1377A>C (p.Gly459=)
c.1299A>C (p.Gly433=)
4g.71451263A>GCA439875653SLC4A4c.1380A>G (p.Gly460=)
c.1284A>G (p.Gly428=)
c.1152A>G (p.Gly384=)
n.1213A>G
c.726A>G (p.Gly242=)
c.1059A>G (p.Gly353=)
c.768A>G (p.Gly256=)
c.1377A>G (p.Gly459=)
c.1299A>G (p.Gly433=)
4g.71451263A>TCA439875652SLC4A4c.1380A>T (p.Gly460=)
c.1284A>T (p.Gly428=)
c.1152A>T (p.Gly384=)
n.1213A>T
c.726A>T (p.Gly242=)
c.1059A>T (p.Gly353=)
c.768A>T (p.Gly256=)
c.1377A>T (p.Gly459=)
c.1299A>T (p.Gly433=)
4g.71451264G>ACA357418400SLC4A4c.1381G>A (p.Gly461Arg)
c.1285G>A (p.Gly429Arg)
c.1153G>A (p.Gly385Arg)
n.1214G>A
c.727G>A (p.Gly243Arg)
c.1060G>A (p.Gly354Arg)
c.769G>A (p.Gly257Arg)
c.1378G>A (p.Gly460Arg)
c.1300G>A (p.Gly434Arg)
 gnomAD v4
4g.71451264G>CCA357418401SLC4A4c.1381G>C (p.Gly461Arg)
c.1285G>C (p.Gly429Arg)
c.1153G>C (p.Gly385Arg)
n.1214G>C
c.727G>C (p.Gly243Arg)
c.1060G>C (p.Gly354Arg)
c.769G>C (p.Gly257Arg)
c.1378G>C (p.Gly460Arg)
c.1300G>C (p.Gly434Arg)
4g.71451264G>TCA357418402SLC4A4c.1381G>T (p.Gly461Ter)
c.1285G>T (p.Gly429Ter)
c.1153G>T (p.Gly385Ter)
n.1214G>T
c.727G>T (p.Gly243Ter)
c.1060G>T (p.Gly354Ter)
c.769G>T (p.Gly257Ter)
c.1378G>T (p.Gly460Ter)
c.1300G>T (p.Gly434Ter)
4g.71451265dupCA1467213378SLC4A4c.1382dup (p.His462ThrfsTer5)
c.1286dup (p.His430ThrfsTer5)
c.1154dup (p.His386ThrfsTer5)
n.1215dup
c.728dup (p.His244ThrfsTer5)
c.1061dup (p.His355ThrfsTer5)
c.770dup (p.His258ThrfsTer5)
c.1379dup (p.His461ThrfsTer5)
c.1301dup (p.His435ThrfsTer5)
 dbSNP
4g.71451265G>ACA357418404SLC4A4c.1382G>A (p.Gly461Glu)
c.1286G>A (p.Gly429Glu)
c.1154G>A (p.Gly385Glu)
n.1215G>A
c.728G>A (p.Gly243Glu)
c.1061G>A (p.Gly354Glu)
c.770G>A (p.Gly257Glu)
c.1379G>A (p.Gly460Glu)
c.1301G>A (p.Gly434Glu)
 gnomAD v4
4g.71451265G>CCA357418405SLC4A4c.1382G>C (p.Gly461Ala)
c.1286G>C (p.Gly429Ala)
c.1154G>C (p.Gly385Ala)
n.1215G>C
c.728G>C (p.Gly243Ala)
c.1061G>C (p.Gly354Ala)
c.770G>C (p.Gly257Ala)
c.1379G>C (p.Gly460Ala)
c.1301G>C (p.Gly434Ala)
4g.71451265G=CA1467213381SLC4A4c.1382G= (p.Gly461=)
c.1286G= (p.Gly429=)
c.1154G= (p.Gly385=)
n.1215G=
c.728G= (p.Gly243=)
c.1061G= (p.Gly354=)
c.770G= (p.Gly257=)
c.1379G= (p.Gly460=)
c.1301G= (p.Gly434=)
4g.71451265G>TCA357418403SLC4A4c.1382G>T (p.Gly461Val)
c.1286G>T (p.Gly429Val)
c.1154G>T (p.Gly385Val)
n.1215G>T
c.728G>T (p.Gly243Val)
c.1061G>T (p.Gly354Val)
c.770G>T (p.Gly257Val)
c.1379G>T (p.Gly460Val)
c.1301G>T (p.Gly434Val)
 dbSNP
4g.71451266A>CCA439875657SLC4A4c.1383A>C (p.Gly461=)
c.1287A>C (p.Gly429=)
c.1155A>C (p.Gly385=)
n.1216A>C
c.729A>C (p.Gly243=)
c.1062A>C (p.Gly354=)
c.771A>C (p.Gly257=)
c.1380A>C (p.Gly460=)
c.1302A>C (p.Gly434=)
4g.71451266A>GCA439875656SLC4A4c.1383A>G (p.Gly461=)
c.1287A>G (p.Gly429=)
c.1155A>G (p.Gly385=)
n.1216A>G
c.729A>G (p.Gly243=)
c.1062A>G (p.Gly354=)
c.771A>G (p.Gly257=)
c.1380A>G (p.Gly460=)
c.1302A>G (p.Gly434=)
 gnomAD v4
4g.71451266A>TCA439875655SLC4A4c.1383A>T (p.Gly461=)
c.1287A>T (p.Gly429=)
c.1155A>T (p.Gly385=)
n.1216A>T
c.729A>T (p.Gly243=)
c.1062A>T (p.Gly354=)
c.771A>T (p.Gly257=)
c.1380A>T (p.Gly460=)
c.1302A>T (p.Gly434=)
 gnomAD v4
4g.71451267C>ACA357418406SLC4A4c.1384C>A (p.His462Asn)
c.1288C>A (p.His430Asn)
c.1156C>A (p.His386Asn)
n.1217C>A
c.730C>A (p.His244Asn)
c.1063C>A (p.His355Asn)
c.772C>A (p.His258Asn)
c.1381C>A (p.His461Asn)
c.1303C>A (p.His435Asn)
 gnomAD v4
4g.71451267C>GCA357418408SLC4A4c.1384C>G (p.His462Asp)
c.1288C>G (p.His430Asp)
c.1156C>G (p.His386Asp)
n.1217C>G
c.730C>G (p.His244Asp)
c.1063C>G (p.His355Asp)
c.772C>G (p.His258Asp)
c.1381C>G (p.His461Asp)
c.1303C>G (p.His435Asp)
4g.71451267C>TCA357418407SLC4A4c.1384C>T (p.His462Tyr)
c.1288C>T (p.His430Tyr)
c.1156C>T (p.His386Tyr)
n.1217C>T
c.730C>T (p.His244Tyr)
c.1063C>T (p.His355Tyr)
c.772C>T (p.His258Tyr)
c.1381C>T (p.His461Tyr)
c.1303C>T (p.His435Tyr)
4g.71451268A>CCA357418409SLC4A4c.1385A>C (p.His462Pro)
c.1289A>C (p.His430Pro)
c.1157A>C (p.His386Pro)
n.1218A>C
c.731A>C (p.His244Pro)
c.1064A>C (p.His355Pro)
c.773A>C (p.His258Pro)
c.1382A>C (p.His461Pro)
c.1304A>C (p.His435Pro)
4g.71451268A>GCA357418410SLC4A4c.1385A>G (p.His462Arg)
c.1289A>G (p.His430Arg)
c.1157A>G (p.His386Arg)
n.1218A>G
c.731A>G (p.His244Arg)
c.1064A>G (p.His355Arg)
c.773A>G (p.His258Arg)
c.1382A>G (p.His461Arg)
c.1304A>G (p.His435Arg)
 gnomAD v4
4g.71451268A>TCA357418411SLC4A4c.1385A>T (p.His462Leu)
c.1289A>T (p.His430Leu)
c.1157A>T (p.His386Leu)
n.1218A>T
c.731A>T (p.His244Leu)
c.1064A>T (p.His355Leu)
c.773A>T (p.His258Leu)
c.1382A>T (p.His461Leu)
c.1304A>T (p.His435Leu)
 COSMIC
4g.71451269T>ACA357418412SLC4A4c.1386T>A (p.His462Gln)
c.1290T>A (p.His430Gln)
c.1158T>A (p.His386Gln)
n.1219T>A
c.732T>A (p.His244Gln)
c.1065T>A (p.His355Gln)
c.774T>A (p.His258Gln)
c.1383T>A (p.His461Gln)
c.1305T>A (p.His435Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.71451269T>CCA439875658SLC4A4c.1386T>C (p.His462=)
c.1290T>C (p.His430=)
c.1158T>C (p.His386=)
n.1219T>C
c.732T>C (p.His244=)
c.1065T>C (p.His355=)
c.774T>C (p.His258=)
c.1383T>C (p.His461=)
c.1305T>C (p.His435=)
 gnomAD v4
4g.71451269T>GCA357418413SLC4A4c.1386T>G (p.His462Gln)
c.1290T>G (p.His430Gln)
c.1158T>G (p.His386Gln)
n.1219T>G
c.732T>G (p.His244Gln)
c.1065T>G (p.His355Gln)
c.774T>G (p.His258Gln)
c.1383T>G (p.His461Gln)
c.1305T>G (p.His435Gln)
4g.71451269T=CA1467213383SLC4A4c.1386T= (p.His462=)
c.1290T= (p.His430=)
c.1158T= (p.His386=)
n.1219T=
c.732T= (p.His244=)
c.1065T= (p.His355=)
c.774T= (p.His258=)
c.1383T= (p.His461=)
c.1305T= (p.His435=)
4g.71451270G>ACA357418414SLC4A4c.1387G>A (p.Gly463Arg)
c.1291G>A (p.Gly431Arg)
c.1159G>A (p.Gly387Arg)
n.1220G>A
c.733G>A (p.Gly245Arg)
c.1066G>A (p.Gly356Arg)
c.775G>A (p.Gly259Arg)
c.1384G>A (p.Gly462Arg)
c.1306G>A (p.Gly436Arg)
4g.71451270G>CCA357418415SLC4A4c.1387G>C (p.Gly463Arg)
c.1291G>C (p.Gly431Arg)
c.1159G>C (p.Gly387Arg)
n.1220G>C
c.733G>C (p.Gly245Arg)
c.1066G>C (p.Gly356Arg)
c.775G>C (p.Gly259Arg)
c.1384G>C (p.Gly462Arg)
c.1306G>C (p.Gly436Arg)
4g.71451270G>TCA357418416SLC4A4c.1387G>T (p.Gly463Trp)
c.1291G>T (p.Gly431Trp)
c.1159G>T (p.Gly387Trp)
n.1220G>T
c.733G>T (p.Gly245Trp)
c.1066G>T (p.Gly356Trp)
c.775G>T (p.Gly259Trp)
c.1384G>T (p.Gly462Trp)
c.1306G>T (p.Gly436Trp)
4g.71451271G>ACA357418417SLC4A4c.1388G>A (p.Gly463Glu)
c.1292G>A (p.Gly431Glu)
c.1160G>A (p.Gly387Glu)
n.1221G>A
c.734G>A (p.Gly245Glu)
c.1067G>A (p.Gly356Glu)
c.776G>A (p.Gly259Glu)
c.1385G>A (p.Gly462Glu)
c.1307G>A (p.Gly436Glu)
 dbSNP COSMIC COSMIC
4g.71451271G>CCA357418418SLC4A4c.1388G>C (p.Gly463Ala)
c.1292G>C (p.Gly431Ala)
c.1160G>C (p.Gly387Ala)
n.1221G>C
c.734G>C (p.Gly245Ala)
c.1067G>C (p.Gly356Ala)
c.776G>C (p.Gly259Ala)
c.1385G>C (p.Gly462Ala)
c.1307G>C (p.Gly436Ala)
 gnomAD v4
4g.71451271G=CA1467213389SLC4A4c.1388G= (p.Gly463=)
c.1292G= (p.Gly431=)
c.1160G= (p.Gly387=)
n.1221G=
c.734G= (p.Gly245=)
c.1067G= (p.Gly356=)
c.776G= (p.Gly259=)
c.1385G= (p.Gly462=)
c.1307G= (p.Gly436=)
4g.71451271G>TCA357418419SLC4A4c.1388G>T (p.Gly463Val)
c.1292G>T (p.Gly431Val)
c.1160G>T (p.Gly387Val)
n.1221G>T
c.734G>T (p.Gly245Val)
c.1067G>T (p.Gly356Val)
c.776G>T (p.Gly259Val)
c.1385G>T (p.Gly462Val)
c.1307G>T (p.Gly436Val)
4g.71451272G>ACA439875659SLC4A4c.1389G>A (p.Gly463=)
c.1293G>A (p.Gly431=)
c.1161G>A (p.Gly387=)
n.1222G>A
c.735G>A (p.Gly245=)
c.1068G>A (p.Gly356=)
c.777G>A (p.Gly259=)
c.1386G>A (p.Gly462=)
c.1308G>A (p.Gly436=)
 gnomAD v4
4g.71451272G>CCA439875660SLC4A4c.1389G>C (p.Gly463=)
c.1293G>C (p.Gly431=)
c.1161G>C (p.Gly387=)
n.1222G>C
c.735G>C (p.Gly245=)
c.1068G>C (p.Gly356=)
c.777G>C (p.Gly259=)
c.1386G>C (p.Gly462=)
c.1308G>C (p.Gly436=)
4g.71451272G>TCA439875661SLC4A4c.1389G>T (p.Gly463=)
c.1293G>T (p.Gly431=)
c.1161G>T (p.Gly387=)
n.1222G>T
c.735G>T (p.Gly245=)
c.1068G>T (p.Gly356=)
c.777G>T (p.Gly259=)
c.1386G>T (p.Gly462=)
c.1308G>T (p.Gly436=)
4g.71451273G>ACA357418422SLC4A4c.1390G>A (p.Asp464Asn)
c.1294G>A (p.Asp432Asn)
c.1162G>A (p.Asp388Asn)
n.1223G>A
c.736G>A (p.Asp246Asn)
c.1069G>A (p.Asp357Asn)
c.778G>A (p.Asp260Asn)
c.1387G>A (p.Asp463Asn)
c.1309G>A (p.Asp437Asn)
4g.71451273G>CCA357418420SLC4A4c.1390G>C (p.Asp464His)
c.1294G>C (p.Asp432His)
c.1162G>C (p.Asp388His)
n.1223G>C
c.736G>C (p.Asp246His)
c.1069G>C (p.Asp357His)
c.778G>C (p.Asp260His)
c.1387G>C (p.Asp463His)
c.1309G>C (p.Asp437His)
4g.71451273G>TCA357418421SLC4A4c.1390G>T (p.Asp464Tyr)
c.1294G>T (p.Asp432Tyr)
c.1162G>T (p.Asp388Tyr)
n.1223G>T
c.736G>T (p.Asp246Tyr)
c.1069G>T (p.Asp357Tyr)
c.778G>T (p.Asp260Tyr)
c.1387G>T (p.Asp463Tyr)
c.1309G>T (p.Asp437Tyr)
4g.71451274A=CA1467213396SLC4A4c.1391A= (p.Asp464=)
c.1295A= (p.Asp432=)
c.1163A= (p.Asp388=)
n.1224A=
c.737A= (p.Asp246=)
c.1070A= (p.Asp357=)
c.779A= (p.Asp260=)
c.1388A= (p.Asp463=)
c.1310A= (p.Asp437=)
4g.71451274A>CCA357418423SLC4A4c.1391A>C (p.Asp464Ala)
c.1295A>C (p.Asp432Ala)
c.1163A>C (p.Asp388Ala)
n.1224A>C
c.737A>C (p.Asp246Ala)
c.1070A>C (p.Asp357Ala)
c.779A>C (p.Asp260Ala)
c.1388A>C (p.Asp463Ala)
c.1310A>C (p.Asp437Ala)
 dbSNP
4g.71451274A>GCA357418424SLC4A4c.1391A>G (p.Asp464Gly)
c.1295A>G (p.Asp432Gly)
c.1163A>G (p.Asp388Gly)
n.1224A>G
c.737A>G (p.Asp246Gly)
c.1070A>G (p.Asp357Gly)
c.779A>G (p.Asp260Gly)
c.1388A>G (p.Asp463Gly)
c.1310A>G (p.Asp437Gly)
4g.71451274A>TCA357418425SLC4A4c.1391A>T (p.Asp464Val)
c.1295A>T (p.Asp432Val)
c.1163A>T (p.Asp388Val)
n.1224A>T
c.737A>T (p.Asp246Val)
c.1070A>T (p.Asp357Val)
c.779A>T (p.Asp260Val)
c.1388A>T (p.Asp463Val)
c.1310A>T (p.Asp437Val)
4g.71451275T>ACA357418426SLC4A4c.1392T>A (p.Asp464Glu)
c.1296T>A (p.Asp432Glu)
c.1164T>A (p.Asp388Glu)
n.1225T>A
c.738T>A (p.Asp246Glu)
c.1071T>A (p.Asp357Glu)
c.780T>A (p.Asp260Glu)
c.1389T>A (p.Asp463Glu)
c.1311T>A (p.Asp437Glu)
4g.71451275T>CCA439875662SLC4A4c.1392T>C (p.Asp464=)
c.1296T>C (p.Asp432=)
c.1164T>C (p.Asp388=)
n.1225T>C
c.738T>C (p.Asp246=)
c.1071T>C (p.Asp357=)
c.780T>C (p.Asp260=)
c.1389T>C (p.Asp463=)
c.1311T>C (p.Asp437=)
4g.71451275T>GCA357418427SLC4A4c.1392T>G (p.Asp464Glu)
c.1296T>G (p.Asp432Glu)
c.1164T>G (p.Asp388Glu)
n.1225T>G
c.738T>G (p.Asp246Glu)
c.1071T>G (p.Asp357Glu)
c.780T>G (p.Asp260Glu)
c.1389T>G (p.Asp463Glu)
c.1311T>G (p.Asp437Glu)
4g.71451276T>ACA357418428SLC4A4c.1393T>A (p.Cys465Ser)
c.1297T>A (p.Cys433Ser)
c.1165T>A (p.Cys389Ser)
n.1226T>A
c.739T>A (p.Cys247Ser)
c.1072T>A (p.Cys358Ser)
c.781T>A (p.Cys261Ser)
c.1390T>A (p.Cys464Ser)
c.1312T>A (p.Cys438Ser)
4g.71451276T>CCA2954784SLC4A4c.1393T>C (p.Cys465Arg)
c.1297T>C (p.Cys433Arg)
c.1165T>C (p.Cys389Arg)
n.1226T>C
c.739T>C (p.Cys247Arg)
c.1072T>C (p.Cys358Arg)
c.781T>C (p.Cys261Arg)
c.1390T>C (p.Cys464Arg)
c.1312T>C (p.Cys438Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.71451276T>GCA357418429SLC4A4c.1393T>G (p.Cys465Gly)
c.1297T>G (p.Cys433Gly)
c.1165T>G (p.Cys389Gly)
n.1226T>G
c.739T>G (p.Cys247Gly)
c.1072T>G (p.Cys358Gly)
c.781T>G (p.Cys261Gly)
c.1390T>G (p.Cys464Gly)
c.1312T>G (p.Cys438Gly)
4g.71451276T=CA1467213405SLC4A4c.1393T= (p.Cys465=)
c.1297T= (p.Cys433=)
c.1165T= (p.Cys389=)
n.1226T=
c.739T= (p.Cys247=)
c.1072T= (p.Cys358=)
c.781T= (p.Cys261=)
c.1390T= (p.Cys464=)
c.1312T= (p.Cys438=)
4g.71451277G>ACA357418430SLC4A4c.1394G>A (p.Cys465Tyr)
c.1298G>A (p.Cys433Tyr)
c.1166G>A (p.Cys389Tyr)
n.1227G>A
c.740G>A (p.Cys247Tyr)
c.1073G>A (p.Cys358Tyr)
c.782G>A (p.Cys261Tyr)
c.1391G>A (p.Cys464Tyr)
c.1313G>A (p.Cys438Tyr)
4g.71451277G>CCA357418431SLC4A4c.1394G>C (p.Cys465Ser)
c.1298G>C (p.Cys433Ser)
c.1166G>C (p.Cys389Ser)
n.1227G>C
c.740G>C (p.Cys247Ser)
c.1073G>C (p.Cys358Ser)
c.782G>C (p.Cys261Ser)
c.1391G>C (p.Cys464Ser)
c.1313G>C (p.Cys438Ser)
4g.71451277G>TCA357418432SLC4A4c.1394G>T (p.Cys465Phe)
c.1298G>T (p.Cys433Phe)
c.1166G>T (p.Cys389Phe)
n.1227G>T
c.740G>T (p.Cys247Phe)
c.1073G>T (p.Cys358Phe)
c.782G>T (p.Cys261Phe)
c.1391G>T (p.Cys464Phe)
c.1313G>T (p.Cys438Phe)
 gnomAD v4
4g.71451278T>ACA357418434SLC4A4c.1395T>A (p.Cys465Ter)
c.1299T>A (p.Cys433Ter)
c.1167T>A (p.Cys389Ter)
n.1228T>A
c.741T>A (p.Cys247Ter)
c.1074T>A (p.Cys358Ter)
c.783T>A (p.Cys261Ter)
c.1392T>A (p.Cys464Ter)
c.1314T>A (p.Cys438Ter)
4g.71451278T>CCA439875663SLC4A4c.1395T>C (p.Cys465=)
c.1299T>C (p.Cys433=)
c.1167T>C (p.Cys389=)
n.1228T>C
c.741T>C (p.Cys247=)
c.1074T>C (p.Cys358=)
c.783T>C (p.Cys261=)
c.1392T>C (p.Cys464=)
c.1314T>C (p.Cys438=)
4g.71451278T>GCA357418433SLC4A4c.1395T>G (p.Cys465Trp)
c.1299T>G (p.Cys433Trp)
c.1167T>G (p.Cys389Trp)
n.1228T>G
c.741T>G (p.Cys247Trp)
c.1074T>G (p.Cys358Trp)
c.783T>G (p.Cys261Trp)
c.1392T>G (p.Cys464Trp)
c.1314T>G (p.Cys438Trp)
4g.71451279G>ACA357418435SLC4A4c.1396G>A (p.Glu466Lys)
c.1300G>A (p.Glu434Lys)
c.1168G>A (p.Glu390Lys)
n.1229G>A
c.742G>A (p.Glu248Lys)
c.1075G>A (p.Glu359Lys)
c.784G>A (p.Glu262Lys)
c.1393G>A (p.Glu465Lys)
c.1315G>A (p.Glu439Lys)
4g.71451279G>CCA357418436SLC4A4c.1396G>C (p.Glu466Gln)
c.1300G>C (p.Glu434Gln)
c.1168G>C (p.Glu390Gln)
n.1229G>C
c.742G>C (p.Glu248Gln)
c.1075G>C (p.Glu359Gln)
c.784G>C (p.Glu262Gln)
c.1393G>C (p.Glu465Gln)
c.1315G>C (p.Glu439Gln)
4g.71451279G>TCA357418437SLC4A4c.1396G>T (p.Glu466Ter)
c.1300G>T (p.Glu434Ter)
c.1168G>T (p.Glu390Ter)
n.1229G>T
c.742G>T (p.Glu248Ter)
c.1075G>T (p.Glu359Ter)
c.784G>T (p.Glu262Ter)
c.1393G>T (p.Glu465Ter)
c.1315G>T (p.Glu439Ter)

Number of alleles fetched