Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.44249142G>ACA10650256SLC4A1c.*1316C>T (n.*1316C>T)
c.63C>T (p.His21=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.44249142G>CCA399777709SLC4A1c.*1316C>G (n.*1316C>G)
c.63C>G (p.His21Gln)
17g.44249142G=CA2261305772SLC4A1c.*1316C= (n.*1316C=)
c.63C= (p.His21=)
17g.44249142G>TCA290924010SLC4A1c.*1316C>A (n.*1316C>A)
c.63C>A (p.His21Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44249143T>ACA399777713SLC4A1c.*1315A>T (n.*1315A>T)
c.62A>T (p.His21Leu)
17g.44249143T>CCA399777714SLC4A1c.*1315A>G (n.*1315A>G)
c.62A>G (p.His21Arg)
17g.44249143T>GCA399777716SLC4A1c.*1315A>C (n.*1315A>C)
c.62A>C (p.His21Pro)
17g.44249144G>ACA399777718SLC4A1c.*1314C>T (n.*1314C>T)
c.61C>T (p.His21Tyr)
 gnomAD v4
17g.44249144G>CCA399777719SLC4A1c.*1314C>G (n.*1314C>G)
c.61C>G (p.His21Asp)
17g.44249144G>TCA399777721SLC4A1c.*1314C>A (n.*1314C>A)
c.61C>A (p.His21Asn)
 gnomAD v4
17g.44249145A=CA2261305773SLC4A1c.*1313T= (n.*1313T=)
c.60T= (p.Ala20=)
17g.44249145A>CCA500284525SLC4A1c.*1313T>G (n.*1313T>G)
c.60T>G (p.Ala20=)
17g.44249145A>GCA290924013SLC4A1c.*1313T>C (n.*1313T>C)
c.60T>C (p.Ala20=)
 dbSNP
17g.44249145A>TCA500284528SLC4A1c.*1313T>A (n.*1313T>A)
c.60T>A (p.Ala20=)
17g.44249146G>ACA290924015SLC4A1c.*1312C>T (n.*1312C>T)
c.59C>T (p.Ala20Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44249146G>CCA399777724SLC4A1c.*1312C>G (n.*1312C>G)
c.59C>G (p.Ala20Gly)
17g.44249146G=CA2261305774SLC4A1c.*1312C= (n.*1312C=)
c.59C= (p.Ala20=)
17g.44249146G>TCA399777726SLC4A1c.*1312C>A (n.*1312C>A)
c.59C>A (p.Ala20Asp)
17g.44249147C>ACA399777732SLC4A1c.*1311G>T (n.*1311G>T)
c.58G>T (p.Ala20Ser)
 gnomAD v4
17g.44249147C=CA2261305775SLC4A1c.*1311G= (n.*1311G=)
c.58G= (p.Ala20=)
17g.44249147C>GCA399777729SLC4A1c.*1311G>C (n.*1311G>C)
c.58G>C (p.Ala20Pro)
17g.44249147C>TCA399777730SLC4A1c.*1311G>A (n.*1311G>A)
c.58G>A (p.Ala20Thr)
 dbSNP gnomAD v4
17g.44249148C>ACA500284538SLC4A1c.*1310G>T (n.*1310G>T)
c.57G>T (p.Val19=)
17g.44249148C>GCA500284539SLC4A1c.*1310G>C (n.*1310G>C)
c.57G>C (p.Val19=)
17g.44249148C>TCA500284541SLC4A1c.*1310G>A (n.*1310G>A)
c.57G>A (p.Val19=)
17g.44249149A>CCA399777734SLC4A1c.*1309T>G (n.*1309T>G)
c.56T>G (p.Val19Gly)
17g.44249149A>GCA399777736SLC4A1c.*1309T>C (n.*1309T>C)
c.56T>C (p.Val19Ala)
 gnomAD v4
17g.44249149A>TCA399777737SLC4A1c.*1309T>A (n.*1309T>A)
c.56T>A (p.Val19Glu)
17g.44249150C>ACA399777739SLC4A1c.*1308G>T (n.*1308G>T)
c.55G>T (p.Val19Leu)
17g.44249150C>GCA399777741SLC4A1c.*1308G>C (n.*1308G>C)
c.55G>C (p.Val19Leu)
17g.44249150C>TCA399777742SLC4A1c.*1308G>A (n.*1308G>A)
c.55G>A (p.Val19Met)
 gnomAD v4
17g.44249151T>ACA500284554SLC4A1c.*1307A>T (n.*1307A>T)
c.54A>T (p.Ala18=)
17g.44249151T>CCA500284557SLC4A1c.*1307A>G (n.*1307A>G)
c.54A>G (p.Ala18=)
 dbSNP gnomAD v4
17g.44249151T>GCA500284559SLC4A1c.*1307A>C (n.*1307A>C)
c.54A>C (p.Ala18=)
 dbSNP gnomAD v4
17g.44249151T=CA2261305776SLC4A1c.*1307A= (n.*1307A=)
c.54A= (p.Ala18=)
17g.44249152G>ACA399777743SLC4A1c.*1306C>T (n.*1306C>T)
c.53C>T (p.Ala18Val)
 gnomAD v4
17g.44249152G>CCA399777745SLC4A1c.*1306C>G (n.*1306C>G)
c.53C>G (p.Ala18Gly)
17g.44249152G>TCA399777747SLC4A1c.*1306C>A (n.*1306C>A)
c.53C>A (p.Ala18Glu)
 gnomAD v4
17g.44249153C>ACA399777749SLC4A1c.*1305G>T (n.*1305G>T)
c.52G>T (p.Ala18Ser)
 gnomAD v4
17g.44249153C=CA2261305777SLC4A1c.*1305G= (n.*1305G=)
c.52G= (p.Ala18=)
17g.44249153C>GCA399777751SLC4A1c.*1305G>C (n.*1305G>C)
c.52G>C (p.Ala18Pro)
17g.44249153C>TCA290924016SLC4A1c.*1305G>A (n.*1305G>A)
c.52G>A (p.Ala18Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44249154G>ACA500284577SLC4A1c.*1304C>T (n.*1304C>T)
c.51C>T (p.Gly17=)
 dbSNP gnomAD v4
17g.44249154G>CCA500284579SLC4A1c.*1304C>G (n.*1304C>G)
c.51C>G (p.Gly17=)
17g.44249154G=CA2261305778SLC4A1c.*1304C= (n.*1304C=)
c.51C= (p.Gly17=)
17g.44249154G>TCA500284580SLC4A1c.*1304C>A (n.*1304C>A)
c.51C>A (p.Gly17=)
17g.44249155C>ACA399777756SLC4A1c.*1303G>T (n.*1303G>T)
c.50G>T (p.Gly17Val)
17g.44249155C>GCA399777758SLC4A1c.*1303G>C (n.*1303G>C)
c.50G>C (p.Gly17Ala)
17g.44249155C>TCA399777754SLC4A1c.*1303G>A (n.*1303G>A)
c.50G>A (p.Gly17Asp)
17g.44249157delCA2638189466SLC4A1c.*1303del (n.*1303del)
c.50del (p.Gly17AlafsTer?)
 gnomAD v4
17g.44249156C>ACA399777760SLC4A1c.*1302G>T (n.*1302G>T)
c.49G>T (p.Gly17Cys)
 gnomAD v4
17g.44249156C=CA2261305779SLC4A1c.*1302G= (n.*1302G=)
c.49G= (p.Gly17=)
17g.44249156C>GCA290924018SLC4A1c.*1302G>C (n.*1302G>C)
c.49G>C (p.Gly17Arg)
 dbSNP gnomAD v3 gnomAD v4
17g.44249156C>TCA399777762SLC4A1c.*1302G>A (n.*1302G>A)
c.49G>A (p.Gly17Ser)
17g.44249157C>ACA500284588SLC4A1c.*1301G>T (n.*1301G>T)
c.48G>T (p.Leu16=)
17g.44249157C=CA2261305780SLC4A1c.*1301G= (n.*1301G=)
c.48G= (p.Leu16=)
17g.44249157C>GCA500284591SLC4A1c.*1301G>C (n.*1301G>C)
c.48G>C (p.Leu16=)
17g.44249157C>TCA500284593SLC4A1c.*1301G>A (n.*1301G>A)
c.48G>A (p.Leu16=)
 dbSNP gnomAD v4
17g.44249158A=CA2261305781SLC4A1c.*1300T= (n.*1300T=)
c.47T= (p.Leu16=)
17g.44249158A>CCA399777764SLC4A1c.*1300T>G (n.*1300T>G)
c.47T>G (p.Leu16Arg)
17g.44249158A>GCA399777765SLC4A1c.*1300T>C (n.*1300T>C)
c.47T>C (p.Leu16Pro)
 dbSNP
17g.44249158A>TCA399777766SLC4A1c.*1300T>A (n.*1300T>A)
c.47T>A (p.Leu16Gln)
17g.44249159G>ACA500284598SLC4A1c.*1299C>T (n.*1299C>T)
c.46C>T (p.Leu16=)
 gnomAD v4
17g.44249159G>CCA399777768SLC4A1c.*1299C>G (n.*1299C>G)
c.46C>G (p.Leu16Val)
17g.44249159G>TCA399777770SLC4A1c.*1299C>A (n.*1299C>A)
c.46C>A (p.Leu16Met)
 gnomAD v4
17g.44249160C>ACA399777772SLC4A1c.*1298G>T (n.*1298G>T)
c.45G>T (p.Trp15Cys)
17g.44249160C>GCA399777774SLC4A1c.*1298G>C (n.*1298G>C)
c.45G>C (p.Trp15Cys)
17g.44249160C>TCA399777776SLC4A1c.*1298G>A (n.*1298G>A)
c.45G>A (p.Trp15Ter)
 gnomAD v4
17g.44249161C>ACA399777778SLC4A1c.*1297G>T (n.*1297G>T)
c.44G>T (p.Trp15Leu)
17g.44249161C>GCA399777779SLC4A1c.*1297G>C (n.*1297G>C)
c.44G>C (p.Trp15Ser)
 gnomAD v4
17g.44249161C>TCA399777781SLC4A1c.*1297G>A (n.*1297G>A)
c.44G>A (p.Trp15Ter)
17g.44249162A=CA2261305782SLC4A1c.*1296T= (n.*1296T=)
c.43T= (p.Trp15=)
17g.44249162A>CCA290924020SLC4A1c.*1296T>G (n.*1296T>G)
c.43T>G (p.Trp15Gly)
 dbSNP
17g.44249162A>GCA399777785SLC4A1c.*1296T>C (n.*1296T>C)
c.43T>C (p.Trp15Arg)
17g.44249162A>TCA399777783SLC4A1c.*1296T>A (n.*1296T>A)
c.43T>A (p.Trp15Arg)
17g.44249162_44249163insATTTTCA2638189468SLC4A1c.*1295_*1296insAAAAT (n.*1295_*1296insAAAAT)
c.42_43insAAAAT (p.Trp15LysfsTer?)
 gnomAD v4
17g.44249163C>ACA399777788SLC4A1c.*1295G>T (n.*1295G>T)
c.42G>T (p.Arg14Ser)
 gnomAD v4
17g.44249163C=CA2261305783SLC4A1c.*1295G= (n.*1295G=)
c.42G= (p.Arg14=)
17g.44249163C>GCA399777790SLC4A1c.*1295G>C (n.*1295G>C)
c.42G>C (p.Arg14Ser)
17g.44249163C>TCA290924022SLC4A1c.*1295G>A (n.*1295G>A)
c.42G>A (p.Arg14=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44249164dupCA772273995SLC4A1c.*1295dup (n.*1295dup)
c.42dup (p.Trp15ValfsTer10)
 dbSNP gnomAD v3 gnomAD v4
17g.44249167_44249169delCA2638189467SLC4A1c.*1293_*1295del (n.*1293_*1295del)
c.40_42del (p.Arg14del)
 gnomAD v4
17g.44249163_44249164insAGAGACA2638189469SLC4A1c.*1294_*1295insTCTCT (n.*1294_*1295insTCTCT)
c.41_42insTCTCT (p.Arg14SerfsTer?)
 gnomAD v4
17g.44249164C>ACA399777792SLC4A1c.*1294G>T (n.*1294G>T)
c.41G>T (p.Arg14Met)
 gnomAD v4
17g.44249164C=CA2261305784SLC4A1c.*1294G= (n.*1294G=)
c.41G= (p.Arg14=)
17g.44249164C>GCA399777794SLC4A1c.*1294G>C (n.*1294G>C)
c.41G>C (p.Arg14Thr)
17g.44249164C>TCA399777795SLC4A1c.*1294G>A (n.*1294G>A)
c.41G>A (p.Arg14Lys)
 dbSNP gnomAD v3 gnomAD v4
17g.44249164_44249165insGAATGAGCA2638189470SLC4A1c.*1293_*1294insCTCATTC (n.*1293_*1294insCTCATTC)
c.40_41insCTCATTC (p.Arg14ThrfsTer13)
 gnomAD v4
17g.44249165T>ACA399777797SLC4A1c.*1293A>T (n.*1293A>T)
c.40A>T (p.Arg14Trp)
17g.44249165T>CCA399777799SLC4A1c.*1293A>G (n.*1293A>G)
c.40A>G (p.Arg14Gly)
 gnomAD v4
17g.44249165T>GCA500284624SLC4A1c.*1293A>C (n.*1293A>C)
c.40A>C (p.Arg14=)
17g.44249166C>ACA399777801SLC4A1c.*1292G>T (n.*1292G>T)
c.39G>T (p.Arg13Ser)
 gnomAD v4
17g.44249166C>GCA399777802SLC4A1c.*1292G>C (n.*1292G>C)
c.39G>C (p.Arg13Ser)
17g.44249166C>TCA500284626SLC4A1c.*1292G>A (n.*1292G>A)
c.39G>A (p.Arg13=)
17g.44249167C>ACA399777804SLC4A1c.*1291G>T (n.*1291G>T)
c.38G>T (p.Arg13Met)
17g.44249167C=CA2261305785SLC4A1c.*1291G= (n.*1291G=)
c.38G= (p.Arg13=)
17g.44249167C>GCA399777808SLC4A1c.*1291G>C (n.*1291G>C)
c.38G>C (p.Arg13Thr)
17g.44249167C>TCA399777810SLC4A1c.*1291G>A (n.*1291G>A)
c.38G>A (p.Arg13Lys)
 dbSNP gnomAD v3 gnomAD v4
17g.44249168T>ACA399777815SLC4A1c.*1290A>T (n.*1290A>T)
c.37A>T (p.Arg13Trp)
17g.44249168T>CCA399777813SLC4A1c.*1290A>G (n.*1290A>G)
c.37A>G (p.Arg13Gly)
17g.44249168T>GCA500284631SLC4A1c.*1290A>C (n.*1290A>C)
c.37A>C (p.Arg13=)
17g.44249169C>ACA399777816SLC4A1c.*1289G>T (n.*1289G>T)
c.36G>T (p.Glu12Asp)
17g.44249169C=CA2261305786SLC4A1c.*1289G= (n.*1289G=)
c.36G= (p.Glu12=)
17g.44249169C>GCA399777817SLC4A1c.*1289G>C (n.*1289G>C)
c.36G>C (p.Glu12Asp)
17g.44249169C>TCA500284636SLC4A1c.*1289G>A (n.*1289G>A)
c.36G>A (p.Glu12=)
 dbSNP gnomAD v3 gnomAD v4
17g.44249170T>ACA399777819SLC4A1c.*1288A>T (n.*1288A>T)
c.35A>T (p.Glu12Val)
17g.44249170T>CCA399777820SLC4A1c.*1288A>G (n.*1288A>G)
c.35A>G (p.Glu12Gly)
 gnomAD v4
17g.44249170T>GCA399777821SLC4A1c.*1288A>C (n.*1288A>C)
c.35A>C (p.Glu12Ala)
17g.44249171C>ACA399777822SLC4A1c.*1287G>T (n.*1287G>T)
c.34G>T (p.Glu12Ter)
 gnomAD v4
17g.44249171C=CA2261305787SLC4A1c.*1287G= (n.*1287G=)
c.34G= (p.Glu12=)
17g.44249171C>GCA399777824SLC4A1c.*1287G>C (n.*1287G>C)
c.34G>C (p.Glu12Gln)
 dbSNP gnomAD v3 gnomAD v4
17g.44249171C>TCA399777826SLC4A1c.*1287G>A (n.*1287G>A)
c.34G>A (p.Glu12Lys)
17g.44249172T>ACA399777828SLC4A1c.*1286A>T (n.*1286A>T)
c.33A>T (p.Lys11Asn)
17g.44249172T>CCA500284645SLC4A1c.*1286A>G (n.*1286A>G)
c.33A>G (p.Lys11=)
17g.44249172T>GCA399777829SLC4A1c.*1286A>C (n.*1286A>C)
c.33A>C (p.Lys11Asn)
17g.44249175delCA2638189471SLC4A1c.*1286del (n.*1286del)
c.33del (p.Glu12ArgfsTer?)
 gnomAD v4
17g.44249173T>ACA399777832SLC4A1c.*1285A>T (n.*1285A>T)
c.32A>T (p.Lys11Ile)
17g.44249173T>CCA399777834SLC4A1c.*1285A>G (n.*1285A>G)
c.32A>G (p.Lys11Arg)
17g.44249173T>GCA399777835SLC4A1c.*1285A>C (n.*1285A>C)
c.32A>C (p.Lys11Thr)
17g.44249174T>ACA399777841SLC4A1c.*1284A>T (n.*1284A>T)
c.31A>T (p.Lys11Ter)
17g.44249174T>CCA399777838SLC4A1c.*1284A>G (n.*1284A>G)
c.31A>G (p.Lys11Glu)
17g.44249174T>GCA399777839SLC4A1c.*1284A>C (n.*1284A>C)
c.31A>C (p.Lys11Gln)
17g.44249175T>ACA399777843SLC4A1c.*1283A>T (n.*1283A>T)
c.30A>T (p.Arg10Ser)
17g.44249175T>CCA500284656SLC4A1c.*1283A>G (n.*1283A>G)
c.30A>G (p.Arg10=)
17g.44249175T>GCA399777845SLC4A1c.*1283A>C (n.*1283A>C)
c.30A>C (p.Arg10Ser)
17g.44249176C>ACA399777847SLC4A1c.*1282G>T (n.*1282G>T)
c.29G>T (p.Arg10Ile)
 gnomAD v4
17g.44249176C>GCA399777848SLC4A1c.*1282G>C (n.*1282G>C)
c.29G>C (p.Arg10Thr)
 gnomAD v4
17g.44249176C>TCA399777850SLC4A1c.*1282G>A (n.*1282G>A)
c.29G>A (p.Arg10Lys)
17g.44249177T>ACA399777852SLC4A1c.*1281A>T (n.*1281A>T)
c.28A>T (p.Arg10Ter)
17g.44249177T>CCA399777854SLC4A1c.*1281A>G (n.*1281A>G)
c.28A>G (p.Arg10Gly)
17g.44249177T>GCA500284665SLC4A1c.*1281A>C (n.*1281A>C)
c.28A>C (p.Arg10=)
17g.44249178A>CCA500284667SLC4A1c.*1280T>G (n.*1280T>G)
c.27T>G (p.Gly9=)
17g.44249178A>GCA500284669SLC4A1c.*1280T>C (n.*1280T>C)
c.27T>C (p.Gly9=)
17g.44249178A>TCA500284671SLC4A1c.*1280T>A (n.*1280T>A)
c.27T>A (p.Gly9=)
17g.44249179C>ACA399777856SLC4A1c.*1279G>T (n.*1279G>T)
c.26G>T (p.Gly9Val)
 gnomAD v4
17g.44249179C>GCA399777858SLC4A1c.*1279G>C (n.*1279G>C)
c.26G>C (p.Gly9Ala)
17g.44249179C>TCA399777859SLC4A1c.*1279G>A (n.*1279G>A)
c.26G>A (p.Gly9Asp)
17g.44249180C>ACA399777862SLC4A1c.*1278G>T (n.*1278G>T)
c.25G>T (p.Gly9Cys)
17g.44249180C=CA2261305788SLC4A1c.*1278G= (n.*1278G=)
c.25G= (p.Gly9=)
17g.44249180C>GCA399777864SLC4A1c.*1278G>C (n.*1278G>C)
c.25G>C (p.Gly9Arg)
17g.44249180C>TCA290924024SLC4A1c.*1278G>A (n.*1278G>A)
c.25G>A (p.Gly9Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44249181A>CCA399777868SLC4A1c.*1277T>G (n.*1277T>G)
c.24T>G (p.Ser8Arg)
17g.44249181A>GCA500284683SLC4A1c.*1277T>C (n.*1277T>C)
c.24T>C (p.Ser8=)
17g.44249181A>TCA399777867SLC4A1c.*1277T>A (n.*1277T>A)
c.24T>A (p.Ser8Arg)
17g.44249182C>ACA399777871SLC4A1c.*1276G>T (n.*1276G>T)
c.23G>T (p.Ser8Ile)
17g.44249182C=CA2261305789SLC4A1c.*1276G= (n.*1276G=)
c.23G= (p.Ser8=)
17g.44249182C>GCA399777874SLC4A1c.*1276G>C (n.*1276G>C)
c.23G>C (p.Ser8Thr)
 dbSNP gnomAD v2 gnomAD v4
17g.44249182C>TCA399777873SLC4A1c.*1276G>A (n.*1276G>A)
c.23G>A (p.Ser8Asn)
17g.44249183T>ACA399777877SLC4A1c.*1275A>T (n.*1275A>T)
c.22A>T (p.Ser8Cys)
17g.44249183T>CCA399777878SLC4A1c.*1275A>G (n.*1275A>G)
c.22A>G (p.Ser8Gly)
17g.44249183T>GCA399777880SLC4A1c.*1275A>C (n.*1275A>C)
c.22A>C (p.Ser8Arg)
17g.44249184T>ACA500284694SLC4A1c.*1274A>T (n.*1274A>T)
c.21A>T (p.Gly7=)
17g.44249184T>CCA500284695SLC4A1c.*1274A>G (n.*1274A>G)
c.21A>G (p.Gly7=)
17g.44249184T>GCA500284697SLC4A1c.*1274A>C (n.*1274A>C)
c.21A>C (p.Gly7=)
17g.44249184_44249185delinsTCCA2261305790SLC4A1c.*1273_*1274delinsGA (n.*1273_*1274delinsGA)
c.20_21delinsGA (p.Gly7=)
17g.44249185C>ACA8599928SLC4A1c.*1273G>T (n.*1273G>T)
c.20G>T (p.Gly7Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44249185C=CA2261305791SLC4A1c.*1273G= (n.*1273G=)
c.20G= (p.Gly7=)
17g.44249185C>GCA399777883SLC4A1c.*1273G>C (n.*1273G>C)
c.20G>C (p.Gly7Ala)
17g.44249185C>TCA399777885SLC4A1c.*1273G>A (n.*1273G>A)
c.20G>A (p.Gly7Glu)
17g.44249186delCA8599927SLC4A1c.*1273del (n.*1273del)
c.20del (p.Gly7GlufsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44249186C>ACA399777888SLC4A1c.*1272G>T (n.*1272G>T)
c.19G>T (p.Gly7Ter)
17g.44249186C>GCA399777889SLC4A1c.*1272G>C (n.*1272G>C)
c.19G>C (p.Gly7Arg)
17g.44249186C>TCA399777891SLC4A1c.*1272G>A (n.*1272G>A)
c.19G>A (p.Gly7Arg)
17g.44249187T>ACA500284707SLC4A1c.*1271A>T (n.*1271A>T)
c.18A>T (p.Ser6=)
17g.44249187T>CCA500284709SLC4A1c.*1271A>G (n.*1271A>G)
c.18A>G (p.Ser6=)
 gnomAD v4
17g.44249187T>GCA500284711SLC4A1c.*1271A>C (n.*1271A>C)
c.18A>C (p.Ser6=)
17g.44249188G>ACA399777894SLC4A1c.*1270C>T (n.*1270C>T)
c.17C>T (p.Ser6Leu)
17g.44249188G>CCA399777895SLC4A1c.*1270C>G (n.*1270C>G)
c.17C>G (p.Ser6Ter)
17g.44249188G>TCA399777896SLC4A1c.*1270C>A (n.*1270C>A)
c.17C>A (p.Ser6Ter)
 gnomAD v4
17g.44249189A>CCA399777901SLC4A1c.*1269T>G (n.*1269T>G)
c.16T>G (p.Ser6Ala)
17g.44249189A>GCA399777899SLC4A1c.*1269T>C (n.*1269T>C)
c.16T>C (p.Ser6Pro)
17g.44249189A>TCA399777900SLC4A1c.*1269T>A (n.*1269T>A)
c.16T>A (p.Ser6Thr)
17g.44249190T>ACA399777903SLC4A1c.*1268A>T (n.*1268A>T)
c.15A>T (p.Glu5Asp)
 dbSNP gnomAD v3 gnomAD v4
17g.44249190T>CCA500284723SLC4A1c.*1268A>G (n.*1268A>G)
c.15A>G (p.Glu5=)
17g.44249190T>GCA399777905SLC4A1c.*1268A>C (n.*1268A>C)
c.15A>C (p.Glu5Asp)
17g.44249191T>ACA399777907SLC4A1c.*1267A>T (n.*1267A>T)
c.14A>T (p.Glu5Val)
17g.44249191T>CCA399777909SLC4A1c.*1267A>G (n.*1267A>G)
c.14A>G (p.Glu5Gly)
17g.44249191T>GCA399777911SLC4A1c.*1267A>C (n.*1267A>C)
c.14A>C (p.Glu5Ala)
17g.44249192C>ACA399777912SLC4A1c.*1266G>T (n.*1266G>T)
c.13G>T (p.Glu5Ter)
 gnomAD v4
17g.44249192C>GCA399777914SLC4A1c.*1266G>C (n.*1266G>C)
c.13G>C (p.Glu5Gln)
17g.44249192C>TCA399777916SLC4A1c.*1266G>A (n.*1266G>A)
c.13G>A (p.Glu5Lys)
17g.44249193T>ACA500284732SLC4A1c.*1265A>T (n.*1265A>T)
c.12A>T (p.Thr4=)
17g.44249193T>CCA500284733SLC4A1c.*1265A>G (n.*1265A>G)
c.12A>G (p.Thr4=)
 dbSNP gnomAD v2 gnomAD v4
17g.44249193T>GCA500284735SLC4A1c.*1265A>C (n.*1265A>C)
c.12A>C (p.Thr4=)
17g.44249193T=CA2261305792SLC4A1c.*1265A= (n.*1265A=)
c.12A= (p.Thr4=)
17g.44249193_44249194insACCACTACCCA2638189472SLC4A1c.*1264_*1265insGGTAGTGGT (n.*1264_*1265insGGTAGTGGT)
c.11_12insGGTAGTGGT (p.Thr4_Glu5insValValVal)
 gnomAD v4
17g.44249194G>ACA399777918SLC4A1c.*1264C>T (n.*1264C>T)
c.11C>T (p.Thr4Ile)
 dbSNP gnomAD v4
17g.44249194G>CCA399777919SLC4A1c.*1264C>G (n.*1264C>G)
c.11C>G (p.Thr4Arg)
17g.44249194G=CA2261305794SLC4A1c.*1264C= (n.*1264C=)
c.11C= (p.Thr4=)
17g.44249194G>TCA399777921SLC4A1c.*1264C>A (n.*1264C>A)
c.11C>A (p.Thr4Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44249194_44249195delinsGTCA2261305793SLC4A1c.*1263_*1264delinsAC (n.*1263_*1264delinsAC)
c.10_11delinsAC (p.Thr4=)
17g.44249195T>ACA399777926SLC4A1c.*1263A>T (n.*1263A>T)
c.10A>T (p.Thr4Ser)
17g.44249195T>CCA399777924SLC4A1c.*1263A>G (n.*1263A>G)
c.10A>G (p.Thr4Ala)
17g.44249195T>GCA399777928SLC4A1c.*1263A>C (n.*1263A>C)
c.10A>C (p.Thr4Pro)
17g.44249197delCA8599929SLC4A1c.*1263del (n.*1263del)
c.10del (p.Thr4GlnfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44249196T>ACA399777930SLC4A1c.*1262A>T (n.*1262A>T)
c.9A>T (p.Glu3Asp)
17g.44249196T>CCA500284741SLC4A1c.*1262A>G (n.*1262A>G)
c.9A>G (p.Glu3=)
17g.44249196T>GCA399777931SLC4A1c.*1262A>C (n.*1262A>C)
c.9A>C (p.Glu3Asp)
17g.44249197T>ACA399777934SLC4A1c.*1261A>T (n.*1261A>T)
c.8A>T (p.Glu3Val)
17g.44249197T>CCA399777935SLC4A1c.*1261A>G (n.*1261A>G)
c.8A>G (p.Glu3Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44249197T>GCA399777936SLC4A1c.*1261A>C (n.*1261A>C)
c.8A>C (p.Glu3Ala)
17g.44249197T=CA2261305795SLC4A1c.*1261A= (n.*1261A=)
c.8A= (p.Glu3=)
17g.44249198C>ACA399777942SLC4A1c.*1260G>T (n.*1260G>T)
c.7G>T (p.Glu3Ter)
 gnomAD v4
17g.44249198C>GCA399777939SLC4A1c.*1260G>C (n.*1260G>C)
c.7G>C (p.Glu3Gln)
17g.44249198C>TCA399777941SLC4A1c.*1260G>A (n.*1260G>A)
c.7G>A (p.Glu3Lys)
17g.44249199C>ACA399777945SLC4A1c.*1259G>T (n.*1259G>T)
c.6G>T (p.Glu2Asp)
17g.44249199C>GCA399777946SLC4A1c.*1259G>C (n.*1259G>C)
c.6G>C (p.Glu2Asp)
17g.44249199C>TCA500284747SLC4A1c.*1259G>A (n.*1259G>A)
c.6G>A (p.Glu2=)
17g.44249199_44249246dupCA2638189473SLC4A1c.*1212_*1259dup (n.*1212_*1259dup)
c.-42_6dup
 gnomAD v4
17g.44249200T>ACA399777948SLC4A1c.*1258A>T (n.*1258A>T)
c.5A>T (p.Glu2Val)
17g.44249200T>CCA399777949SLC4A1c.*1258A>G (n.*1258A>G)
c.5A>G (p.Glu2Gly)
17g.44249200T>GCA399777952SLC4A1c.*1258A>C (n.*1258A>C)
c.5A>C (p.Glu2Ala)
17g.44249201C>ACA399777954SLC4A1c.*1257G>T (n.*1257G>T)
c.4G>T (p.Glu2Ter)
17g.44249201C=CA2261305796SLC4A1c.*1257G= (n.*1257G=)
c.4G= (p.Glu2=)
17g.44249201C>GCA399777958SLC4A1c.*1257G>C (n.*1257G>C)
c.4G>C (p.Glu2Gln)
17g.44249201C>TCA399777956SLC4A1c.*1257G>A (n.*1257G>A)
c.4G>A (p.Glu2Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44249202delCA2638189474SLC4A1c.*1257del (n.*1257del)
c.4del (p.Glu2ArgfsTer?)
 gnomAD v4
17g.44249202C>ACA399777960SLC4A1c.*1256G>T (n.*1256G>T)
c.3G>T (p.Met1Ile)
17g.44249202C=CA2261305797SLC4A1c.*1256G= (n.*1256G=)
c.3G= (p.Met1=)
17g.44249202C>GCA399777961SLC4A1c.*1256G>C (n.*1256G>C)
c.3G>C (p.Met1Ile)
17g.44249202C>TCA399777963SLC4A1c.*1256G>A (n.*1256G>A)
c.3G>A (p.Met1Ile)
 dbSNP gnomAD v2 gnomAD v4
17g.44249203A=CA2261305798SLC4A1c.*1255T= (n.*1255T=)
c.2T= (p.Met1=)
17g.44249203A>CCA399777965SLC4A1c.*1255T>G (n.*1255T>G)
c.2T>G (p.Met1Arg)
17g.44249203A>GCA399777967SLC4A1c.*1255T>C (n.*1255T>C)
c.2T>C (p.Met1Thr)
 dbSNP gnomAD v2 gnomAD v4
17g.44249203A>TCA399777969SLC4A1c.*1255T>A (n.*1255T>A)
c.2T>A (p.Met1Lys)
17g.44249204T>ACA399777970SLC4A1c.*1254A>T (n.*1254A>T)
c.1A>T (p.Met1Leu)
17g.44249204T>CCA399777972SLC4A1c.*1254A>G (n.*1254A>G)
c.1A>G (p.Met1Val)
17g.44249204T>GCA399777973SLC4A1c.*1254A>C (n.*1254A>C)
c.1A>C (p.Met1Leu)
17g.44249207C>GCA2638189475SLC4A1c.*1251G>C (n.*1251G>C)
c.-3G>C (n.-3G>C)
 gnomAD v4
17g.44249209C>ACA2638189476SLC4A1c.*1249G>T (n.*1249G>T)
c.-5G>T (n.-5G>T)
 gnomAD v4
17g.44249211C>ACA626123404SLC4A1c.*1247G>T (n.*1247G>T)
c.-7G>T (n.-7G>T)
 dbSNP gnomAD v2 gnomAD v4
17g.44249211C=CA2261305799SLC4A1c.*1247G= (n.*1247G=)
c.-7G= (n.-7G=)
17g.44249211C>TCA984002949SLC4A1c.*1247G>A (n.*1247G>A)
c.-7G>A (n.-7G>A)
 dbSNP gnomAD v3 gnomAD v4
17g.44249212C=CA2261305800SLC4A1c.*1246G= (n.*1246G=)
c.-8G= (n.-8G=)
17g.44249212C>TCA626123405SLC4A1c.*1246G>A (n.*1246G>A)
c.-8G>A (n.-8G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44249214C=CA2261305801SLC4A1c.*1244G= (n.*1244G=)
c.-10G= (n.-10G=)
17g.44249214C>TCA290924030SLC4A1c.*1244G>A (n.*1244G>A)
c.-10G>A (n.-10G>A)
 dbSNP gnomAD v3 gnomAD v4
17g.44249217T>CCA2733827267SLC4A1c.*1241A>G (n.*1241A>G)
c.-13A>G (n.-13A>G)
 dbSNP
17g.44249218C>ACA2638189477SLC4A1c.*1240G>T (n.*1240G>T)
c.-14G>T (n.-14G>T)
 gnomAD v4
17g.44249220C=CA2261305802SLC4A1c.*1238G= (n.*1238G=)
c.-16G= (n.-16G=)
17g.44249220C>TCA626123406SLC4A1c.*1238G>A (n.*1238G>A)
c.-16G>A (n.-16G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44249221G>ACA8599930SLC4A1c.*1237C>T (n.*1237C>T)
c.-17C>T (n.-17C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44249221G=CA2261305803SLC4A1c.*1237C= (n.*1237C=)
c.-17C= (n.-17C=)
17g.44249221_44249222insACA656361016SLC4A1c.*1236_*1237insT (n.*1236_*1237insT)
c.-18_-17insT (n.-18_-17insT)
 COSMIC
17g.44249222T>ACA2261305805SLC4A1c.*1236A>T (n.*1236A>T)
c.-18A>T (n.-18A>T)
 dbSNP
17g.44249222T>CCA626123410SLC4A1c.*1236A>G (n.*1236A>G)
c.-18A>G (n.-18A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44249222T=CA2261305804SLC4A1c.*1236A= (n.*1236A=)
c.-18A= (n.-18A=)
17g.44249227C>ACA2638189478SLC4A1c.*1231G>T (n.*1231G>T)
c.-23G>T (n.-23G>T)
 gnomAD v4
17g.44249230C=CA2261305806SLC4A1c.*1228G= (n.*1228G=)
c.-26G= (n.-26G=)
17g.44249230C>TCA2261305807SLC4A1c.*1228G>A (n.*1228G>A)
c.-26G>A (n.-26G>A)
 dbSNP
17g.44249232_44249233delCA2638189479SLC4A1c.*1227_*1228del (n.*1227_*1228del)
c.-27_-26del (n.-27_-26del)
 gnomAD v4
17g.44249231T>ACA2809585468SLC4A1c.*1227A>T (n.*1227A>T)
c.-27A>T (n.-27A>T)
17g.44249231T>CCA2261305809SLC4A1c.*1227A>G (n.*1227A>G)
c.-27A>G (n.-27A>G)
 dbSNP
17g.44249231T>GCA8599931SLC4A1c.*1227A>C (n.*1227A>C)
c.-27A>C (n.-27A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44249231T=CA2261305808SLC4A1c.*1227A= (n.*1227A=)
c.-27A= (n.-27A=)
17g.44249232_44249233delinsCTCA2261305810SLC4A1c.*1225_*1226delinsAG (n.*1225_*1226delinsAG)
c.-29_-28delinsAG (n.-29_-28delinsAG)
17g.44249233T>CCA626123411SLC4A1c.*1225A>G (n.*1225A>G)
c.-29A>G (n.-29A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44249233T=CA2261305811SLC4A1c.*1225A= (n.*1225A=)
c.-29A= (n.-29A=)
17g.44249237delCA984002957SLC4A1c.*1225del (n.*1225del)
c.-29del (n.-29del)
 dbSNP gnomAD v3 gnomAD v4
17g.44249235T>CCA626123412SLC4A1c.*1223A>G (n.*1223A>G)
c.-31A>G (n.-31A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44249235T=CA2261305812SLC4A1c.*1223A= (n.*1223A=)
c.-31A= (n.-31A=)
17g.44249236T>ACA2261305814SLC4A1c.*1222A>T (n.*1222A>T)
c.-32A>T (n.-32A>T)
 dbSNP
17g.44249236T=CA2261305813SLC4A1c.*1222A= (n.*1222A=)
c.-32A= (n.-32A=)
17g.44249240_44249241delinsCTCA2261305815SLC4A1c.*1217_*1218delinsAG (n.*1217_*1218delinsAG)
c.-37_-36delinsAG (n.-37_-36delinsAG)
17g.44249245delCA626123413SLC4A1c.*1217del (n.*1217del)
c.-37del (n.-37del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched