| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44249121del | CA2638189465 | SLC4A1 | c.*1339del (n.*1339del) c.86del (p.Gly29GlufsTer21) | gnomAD v4 |
| 17 | g.44249121C>A | CA399777580 | SLC4A1 | c.*1337G>T (n.*1337G>T) c.84G>T (p.Leu28Phe) | |
| 17 | g.44249121C>G | CA399777577 | SLC4A1 | c.*1337G>C (n.*1337G>C) c.84G>C (p.Leu28Phe) | |
| 17 | g.44249121C>T | CA500284438 | SLC4A1 | c.*1337G>A (n.*1337G>A) c.84G>A (p.Leu28=) | |
| 17 | g.44249122A= | CA2261305759 | SLC4A1 | c.*1336T= (n.*1336T=) c.83T= (p.Leu28=) | |
| 17 | g.44249122A>C | CA399777583 | SLC4A1 | c.*1336T>G (n.*1336T>G) c.83T>G (p.Leu28Trp) | |
| 17 | g.44249122A>G | CA8599926 | SLC4A1 | c.*1336T>C (n.*1336T>C) c.83T>C (p.Leu28Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44249122A>T | CA399777588 | SLC4A1 | c.*1336T>A (n.*1336T>A) c.83T>A (p.Leu28Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44249123A>C | CA399777591 | SLC4A1 | c.*1335T>G (n.*1335T>G) c.82T>G (p.Leu28Val) | |
| 17 | g.44249123A>G | CA500284447 | SLC4A1 | c.*1335T>C (n.*1335T>C) c.82T>C (p.Leu28=) | gnomAD v4 |
| 17 | g.44249123A>T | CA399777593 | SLC4A1 | c.*1335T>A (n.*1335T>A) c.82T>A (p.Leu28Met) | |
| 17 | g.44249124A= | CA2261305760 | SLC4A1 | c.*1334T= (n.*1334T=) c.81T= (p.Thr27=) | |
| 17 | g.44249124A>C | CA500284451 | SLC4A1 | c.*1334T>G (n.*1334T>G) c.81T>G (p.Thr27=) | |
| 17 | g.44249124A>G | CA290924003 | SLC4A1 | c.*1334T>C (n.*1334T>C) c.81T>C (p.Thr27=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44249124A>T | CA500284453 | SLC4A1 | c.*1334T>A (n.*1334T>A) c.81T>A (p.Thr27=) | |
| 17 | g.44249125G>A | CA399777596 | SLC4A1 | c.*1333C>T (n.*1333C>T) c.80C>T (p.Thr27Ile) | |
| 17 | g.44249125G>C | CA399777599 | SLC4A1 | c.*1333C>G (n.*1333C>G) c.80C>G (p.Thr27Ser) | |
| 17 | g.44249125G= | CA2261305761 | SLC4A1 | c.*1333C= (n.*1333C=) c.80C= (p.Thr27=) | |
| 17 | g.44249125G>T | CA399777600 | SLC4A1 | c.*1333C>A (n.*1333C>A) c.80C>A (p.Thr27Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44249126T>A | CA399777605 | SLC4A1 | c.*1332A>T (n.*1332A>T) c.79A>T (p.Thr27Ser) | |
| 17 | g.44249126T>C | CA399777608 | SLC4A1 | c.*1332A>G (n.*1332A>G) c.79A>G (p.Thr27Ala) | |
| 17 | g.44249126T>G | CA399777609 | SLC4A1 | c.*1332A>C (n.*1332A>C) c.79A>C (p.Thr27Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44249126T= | CA2261305762 | SLC4A1 | c.*1332A= (n.*1332A=) c.79A= (p.Thr27=) | |
| 17 | g.44249127G>A | CA500284459 | SLC4A1 | c.*1331C>T (n.*1331C>T) c.78C>T (p.Ser26=) | |
| 17 | g.44249127G>C | CA399777612 | SLC4A1 | c.*1331C>G (n.*1331C>G) c.78C>G (p.Ser26Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44249127G= | CA2261305763 | SLC4A1 | c.*1331C= (n.*1331C=) c.78C= (p.Ser26=) | |
| 17 | g.44249127G>T | CA290924005 | SLC4A1 | c.*1331C>A (n.*1331C>A) c.78C>A (p.Ser26Arg) | dbSNP gnomAD v4 |
| 17 | g.44249128C>A | CA399777623 | SLC4A1 | c.*1330G>T (n.*1330G>T) c.77G>T (p.Ser26Ile) | gnomAD v4 |
| 17 | g.44249128C>G | CA399777620 | SLC4A1 | c.*1330G>C (n.*1330G>C) c.77G>C (p.Ser26Thr) | gnomAD v4 |
| 17 | g.44249128C>T | CA399777617 | SLC4A1 | c.*1330G>A (n.*1330G>A) c.77G>A (p.Ser26Asn) | |
| 17 | g.44249129T>A | CA399777626 | SLC4A1 | c.*1329A>T (n.*1329A>T) c.76A>T (p.Ser26Cys) | dbSNP |
| 17 | g.44249129T>C | CA399777632 | SLC4A1 | c.*1329A>G (n.*1329A>G) c.76A>G (p.Ser26Gly) | gnomAD v4 |
| 17 | g.44249129T>G | CA399777631 | SLC4A1 | c.*1329A>C (n.*1329A>C) c.76A>C (p.Ser26Arg) | |
| 17 | g.44249129T= | CA2261305764 | SLC4A1 | c.*1329A= (n.*1329A=) c.76A= (p.Ser26=) | |
| 17 | g.44249130G>A | CA500284469 | SLC4A1 | c.*1328C>T (n.*1328C>T) c.75C>T (p.Pro25=) | gnomAD v4 |
| 17 | g.44249130G>C | CA500284471 | SLC4A1 | c.*1328C>G (n.*1328C>G) c.75C>G (p.Pro25=) | |
| 17 | g.44249130G>T | CA500284472 | SLC4A1 | c.*1328C>A (n.*1328C>A) c.75C>A (p.Pro25=) | |
| 17 | g.44249131G>A | CA399777635 | SLC4A1 | c.*1327C>T (n.*1327C>T) c.74C>T (p.Pro25Leu) | dbSNP |
| 17 | g.44249131G>C | CA399777646 | SLC4A1 | c.*1327C>G (n.*1327C>G) c.74C>G (p.Pro25Arg) | gnomAD v4 |
| 17 | g.44249131G= | CA2261305765 | SLC4A1 | c.*1327C= (n.*1327C=) c.74C= (p.Pro25=) | |
| 17 | g.44249131G>T | CA399777648 | SLC4A1 | c.*1327C>A (n.*1327C>A) c.74C>A (p.Pro25His) | |
| 17 | g.44249132G>A | CA399777652 | SLC4A1 | c.*1326C>T (n.*1326C>T) c.73C>T (p.Pro25Ser) | dbSNP gnomAD v4 |
| 17 | g.44249132G>C | CA399777654 | SLC4A1 | c.*1326C>G (n.*1326C>G) c.73C>G (p.Pro25Ala) | |
| 17 | g.44249132G= | CA2261305766 | SLC4A1 | c.*1326C= (n.*1326C=) c.73C= (p.Pro25=) | |
| 17 | g.44249132G>T | CA399777657 | SLC4A1 | c.*1326C>A (n.*1326C>A) c.73C>A (p.Pro25Thr) | gnomAD v4 |
| 17 | g.44249133A>C | CA399777661 | SLC4A1 | c.*1325T>G (n.*1325T>G) c.72T>G (p.Asn24Lys) | |
| 17 | g.44249133A>G | CA500284484 | SLC4A1 | c.*1325T>C (n.*1325T>C) c.72T>C (p.Asn24=) | |
| 17 | g.44249133A>T | CA399777663 | SLC4A1 | c.*1325T>A (n.*1325T>A) c.72T>A (p.Asn24Lys) | |
| 17 | g.44249134T>A | CA399777667 | SLC4A1 | c.*1324A>T (n.*1324A>T) c.71A>T (p.Asn24Ile) | |
| 17 | g.44249134T>C | CA399777669 | SLC4A1 | c.*1324A>G (n.*1324A>G) c.71A>G (p.Asn24Ser) | |
| 17 | g.44249134T>G | CA399777670 | SLC4A1 | c.*1324A>C (n.*1324A>C) c.71A>C (p.Asn24Thr) | |
| 17 | g.44249135T>A | CA399777679 | SLC4A1 | c.*1323A>T (n.*1323A>T) c.70A>T (p.Asn24Tyr) | |
| 17 | g.44249135T>C | CA399777677 | SLC4A1 | c.*1323A>G (n.*1323A>G) c.70A>G (p.Asn24Asp) | |
| 17 | g.44249135T>G | CA399777674 | SLC4A1 | c.*1323A>C (n.*1323A>C) c.70A>C (p.Asn24His) | |
| 17 | g.44249136A= | CA2261305767 | SLC4A1 | c.*1322T= (n.*1322T=) c.69T= (p.Cys23=) | |
| 17 | g.44249136A>C | CA399777682 | SLC4A1 | c.*1322T>G (n.*1322T>G) c.69T>G (p.Cys23Trp) | |
| 17 | g.44249136A>G | CA500284493 | SLC4A1 | c.*1322T>C (n.*1322T>C) c.69T>C (p.Cys23=) | dbSNP gnomAD v2 |
| 17 | g.44249136A>T | CA399777683 | SLC4A1 | c.*1322T>A (n.*1322T>A) c.69T>A (p.Cys23Ter) | |
| 17 | g.44249137C>A | CA399777685 | SLC4A1 | c.*1321G>T (n.*1321G>T) c.68G>T (p.Cys23Phe) | |
| 17 | g.44249137C>G | CA399777687 | SLC4A1 | c.*1321G>C (n.*1321G>C) c.68G>C (p.Cys23Ser) | |
| 17 | g.44249137C>T | CA399777689 | SLC4A1 | c.*1321G>A (n.*1321G>A) c.68G>A (p.Cys23Tyr) | gnomAD v4 |
| 17 | g.44249138A= | CA2261305768 | SLC4A1 | c.*1320T= (n.*1320T=) c.67T= (p.Cys23=) | |
| 17 | g.44249138A>C | CA399777691 | SLC4A1 | c.*1320T>G (n.*1320T>G) c.67T>G (p.Cys23Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44249138A>G | CA399777693 | SLC4A1 | c.*1320T>C (n.*1320T>C) c.67T>C (p.Cys23Arg) | |
| 17 | g.44249138A>T | CA399777694 | SLC4A1 | c.*1320T>A (n.*1320T>A) c.67T>A (p.Cys23Ser) | |
| 17 | g.44249139A= | CA2261305769 | SLC4A1 | c.*1319T= (n.*1319T=) c.66T= (p.Val22=) | |
| 17 | g.44249139A>C | CA500284502 | SLC4A1 | c.*1319T>G (n.*1319T>G) c.66T>G (p.Val22=) | gnomAD v4 |
| 17 | g.44249139A>G | CA500284504 | SLC4A1 | c.*1319T>C (n.*1319T>C) c.66T>C (p.Val22=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44249139A>T | CA500284505 | SLC4A1 | c.*1319T>A (n.*1319T>A) c.66T>A (p.Val22=) | |
| 17 | g.44249140A= | CA2261305770 | SLC4A1 | c.*1318T= (n.*1318T=) c.65T= (p.Val22=) | |
| 17 | g.44249140A>C | CA399777697 | SLC4A1 | c.*1318T>G (n.*1318T>G) c.65T>G (p.Val22Gly) | |
| 17 | g.44249140A>G | CA399777699 | SLC4A1 | c.*1318T>C (n.*1318T>C) c.65T>C (p.Val22Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44249140A>T | CA399777700 | SLC4A1 | c.*1318T>A (n.*1318T>A) c.65T>A (p.Val22Asp) | |
| 17 | g.44249141C>A | CA399777705 | SLC4A1 | c.*1317G>T (n.*1317G>T) c.64G>T (p.Val22Phe) | |
| 17 | g.44249141C= | CA2261305771 | SLC4A1 | c.*1317G= (n.*1317G=) c.64G= (p.Val22=) | |
| 17 | g.44249141C>G | CA399777704 | SLC4A1 | c.*1317G>C (n.*1317G>C) c.64G>C (p.Val22Leu) | |
| 17 | g.44249141C>T | CA399777701 | SLC4A1 | c.*1317G>A (n.*1317G>A) c.64G>A (p.Val22Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44249142G>A | CA10650256 | SLC4A1 | c.*1316C>T (n.*1316C>T) c.63C>T (p.His21=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44249142G>C | CA399777709 | SLC4A1 | c.*1316C>G (n.*1316C>G) c.63C>G (p.His21Gln) | |
| 17 | g.44249142G= | CA2261305772 | SLC4A1 | c.*1316C= (n.*1316C=) c.63C= (p.His21=) | |
| 17 | g.44249142G>T | CA290924010 | SLC4A1 | c.*1316C>A (n.*1316C>A) c.63C>A (p.His21Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44249143T>A | CA399777713 | SLC4A1 | c.*1315A>T (n.*1315A>T) c.62A>T (p.His21Leu) | |
| 17 | g.44249143T>C | CA399777714 | SLC4A1 | c.*1315A>G (n.*1315A>G) c.62A>G (p.His21Arg) | |
| 17 | g.44249143T>G | CA399777716 | SLC4A1 | c.*1315A>C (n.*1315A>C) c.62A>C (p.His21Pro) | |
| 17 | g.44249144G>A | CA399777718 | SLC4A1 | c.*1314C>T (n.*1314C>T) c.61C>T (p.His21Tyr) | gnomAD v4 |
| 17 | g.44249144G>C | CA399777719 | SLC4A1 | c.*1314C>G (n.*1314C>G) c.61C>G (p.His21Asp) | |
| 17 | g.44249144G>T | CA399777721 | SLC4A1 | c.*1314C>A (n.*1314C>A) c.61C>A (p.His21Asn) | gnomAD v4 |
| 17 | g.44249145A= | CA2261305773 | SLC4A1 | c.*1313T= (n.*1313T=) c.60T= (p.Ala20=) | |
| 17 | g.44249145A>C | CA500284525 | SLC4A1 | c.*1313T>G (n.*1313T>G) c.60T>G (p.Ala20=) | |
| 17 | g.44249145A>G | CA290924013 | SLC4A1 | c.*1313T>C (n.*1313T>C) c.60T>C (p.Ala20=) | dbSNP |
| 17 | g.44249145A>T | CA500284528 | SLC4A1 | c.*1313T>A (n.*1313T>A) c.60T>A (p.Ala20=) | |
| 17 | g.44249146G>A | CA290924015 | SLC4A1 | c.*1312C>T (n.*1312C>T) c.59C>T (p.Ala20Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44249146G>C | CA399777724 | SLC4A1 | c.*1312C>G (n.*1312C>G) c.59C>G (p.Ala20Gly) | |
| 17 | g.44249146G= | CA2261305774 | SLC4A1 | c.*1312C= (n.*1312C=) c.59C= (p.Ala20=) | |
| 17 | g.44249146G>T | CA399777726 | SLC4A1 | c.*1312C>A (n.*1312C>A) c.59C>A (p.Ala20Asp) | |
| 17 | g.44249147C>A | CA399777732 | SLC4A1 | c.*1311G>T (n.*1311G>T) c.58G>T (p.Ala20Ser) | gnomAD v4 |
| 17 | g.44249147C= | CA2261305775 | SLC4A1 | c.*1311G= (n.*1311G=) c.58G= (p.Ala20=) | |
| 17 | g.44249147C>G | CA399777729 | SLC4A1 | c.*1311G>C (n.*1311G>C) c.58G>C (p.Ala20Pro) | |
| 17 | g.44249147C>T | CA399777730 | SLC4A1 | c.*1311G>A (n.*1311G>A) c.58G>A (p.Ala20Thr) | dbSNP gnomAD v4 |
| 17 | g.44249148C>A | CA500284538 | SLC4A1 | c.*1310G>T (n.*1310G>T) c.57G>T (p.Val19=) | |
| 17 | g.44249148C>G | CA500284539 | SLC4A1 | c.*1310G>C (n.*1310G>C) c.57G>C (p.Val19=) | |
| 17 | g.44249148C>T | CA500284541 | SLC4A1 | c.*1310G>A (n.*1310G>A) c.57G>A (p.Val19=) | |
| 17 | g.44249149A>C | CA399777734 | SLC4A1 | c.*1309T>G (n.*1309T>G) c.56T>G (p.Val19Gly) | |
| 17 | g.44249149A>G | CA399777736 | SLC4A1 | c.*1309T>C (n.*1309T>C) c.56T>C (p.Val19Ala) | gnomAD v4 |
| 17 | g.44249149A>T | CA399777737 | SLC4A1 | c.*1309T>A (n.*1309T>A) c.56T>A (p.Val19Glu) | |
| 17 | g.44249150C>A | CA399777739 | SLC4A1 | c.*1308G>T (n.*1308G>T) c.55G>T (p.Val19Leu) | |
| 17 | g.44249150C>G | CA399777741 | SLC4A1 | c.*1308G>C (n.*1308G>C) c.55G>C (p.Val19Leu) | |
| 17 | g.44249150C>T | CA399777742 | SLC4A1 | c.*1308G>A (n.*1308G>A) c.55G>A (p.Val19Met) | gnomAD v4 |
| 17 | g.44249151T>A | CA500284554 | SLC4A1 | c.*1307A>T (n.*1307A>T) c.54A>T (p.Ala18=) | |
| 17 | g.44249151T>C | CA500284557 | SLC4A1 | c.*1307A>G (n.*1307A>G) c.54A>G (p.Ala18=) | dbSNP gnomAD v4 |
| 17 | g.44249151T>G | CA500284559 | SLC4A1 | c.*1307A>C (n.*1307A>C) c.54A>C (p.Ala18=) | dbSNP gnomAD v4 |
| 17 | g.44249151T= | CA2261305776 | SLC4A1 | c.*1307A= (n.*1307A=) c.54A= (p.Ala18=) | |
| 17 | g.44249152G>A | CA399777743 | SLC4A1 | c.*1306C>T (n.*1306C>T) c.53C>T (p.Ala18Val) | gnomAD v4 |
| 17 | g.44249152G>C | CA399777745 | SLC4A1 | c.*1306C>G (n.*1306C>G) c.53C>G (p.Ala18Gly) | |
| 17 | g.44249152G>T | CA399777747 | SLC4A1 | c.*1306C>A (n.*1306C>A) c.53C>A (p.Ala18Glu) | gnomAD v4 |
| 17 | g.44249153C>A | CA399777749 | SLC4A1 | c.*1305G>T (n.*1305G>T) c.52G>T (p.Ala18Ser) | gnomAD v4 |
| 17 | g.44249153C= | CA2261305777 | SLC4A1 | c.*1305G= (n.*1305G=) c.52G= (p.Ala18=) | |
| 17 | g.44249153C>G | CA399777751 | SLC4A1 | c.*1305G>C (n.*1305G>C) c.52G>C (p.Ala18Pro) | |
| 17 | g.44249153C>T | CA290924016 | SLC4A1 | c.*1305G>A (n.*1305G>A) c.52G>A (p.Ala18Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44249154G>A | CA500284577 | SLC4A1 | c.*1304C>T (n.*1304C>T) c.51C>T (p.Gly17=) | dbSNP gnomAD v4 |
| 17 | g.44249154G>C | CA500284579 | SLC4A1 | c.*1304C>G (n.*1304C>G) c.51C>G (p.Gly17=) | |
| 17 | g.44249154G= | CA2261305778 | SLC4A1 | c.*1304C= (n.*1304C=) c.51C= (p.Gly17=) | |
| 17 | g.44249154G>T | CA500284580 | SLC4A1 | c.*1304C>A (n.*1304C>A) c.51C>A (p.Gly17=) | |
| 17 | g.44249155C>A | CA399777756 | SLC4A1 | c.*1303G>T (n.*1303G>T) c.50G>T (p.Gly17Val) | |
| 17 | g.44249155C>G | CA399777758 | SLC4A1 | c.*1303G>C (n.*1303G>C) c.50G>C (p.Gly17Ala) | |
| 17 | g.44249155C>T | CA399777754 | SLC4A1 | c.*1303G>A (n.*1303G>A) c.50G>A (p.Gly17Asp) | |
| 17 | g.44249157del | CA2638189466 | SLC4A1 | c.*1303del (n.*1303del) c.50del (p.Gly17AlafsTer?) | gnomAD v4 |
| 17 | g.44249156C>A | CA399777760 | SLC4A1 | c.*1302G>T (n.*1302G>T) c.49G>T (p.Gly17Cys) | gnomAD v4 |
| 17 | g.44249156C= | CA2261305779 | SLC4A1 | c.*1302G= (n.*1302G=) c.49G= (p.Gly17=) | |
| 17 | g.44249156C>G | CA290924018 | SLC4A1 | c.*1302G>C (n.*1302G>C) c.49G>C (p.Gly17Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44249156C>T | CA399777762 | SLC4A1 | c.*1302G>A (n.*1302G>A) c.49G>A (p.Gly17Ser) | |
| 17 | g.44249157C>A | CA500284588 | SLC4A1 | c.*1301G>T (n.*1301G>T) c.48G>T (p.Leu16=) | |
| 17 | g.44249157C= | CA2261305780 | SLC4A1 | c.*1301G= (n.*1301G=) c.48G= (p.Leu16=) | |
| 17 | g.44249157C>G | CA500284591 | SLC4A1 | c.*1301G>C (n.*1301G>C) c.48G>C (p.Leu16=) | |
| 17 | g.44249157C>T | CA500284593 | SLC4A1 | c.*1301G>A (n.*1301G>A) c.48G>A (p.Leu16=) | dbSNP gnomAD v4 |
| 17 | g.44249158A= | CA2261305781 | SLC4A1 | c.*1300T= (n.*1300T=) c.47T= (p.Leu16=) | |
| 17 | g.44249158A>C | CA399777764 | SLC4A1 | c.*1300T>G (n.*1300T>G) c.47T>G (p.Leu16Arg) | |
| 17 | g.44249158A>G | CA399777765 | SLC4A1 | c.*1300T>C (n.*1300T>C) c.47T>C (p.Leu16Pro) | dbSNP |
| 17 | g.44249158A>T | CA399777766 | SLC4A1 | c.*1300T>A (n.*1300T>A) c.47T>A (p.Leu16Gln) | |
| 17 | g.44249159G>A | CA500284598 | SLC4A1 | c.*1299C>T (n.*1299C>T) c.46C>T (p.Leu16=) | gnomAD v4 |
| 17 | g.44249159G>C | CA399777768 | SLC4A1 | c.*1299C>G (n.*1299C>G) c.46C>G (p.Leu16Val) | |
| 17 | g.44249159G>T | CA399777770 | SLC4A1 | c.*1299C>A (n.*1299C>A) c.46C>A (p.Leu16Met) | gnomAD v4 |
| 17 | g.44249160C>A | CA399777772 | SLC4A1 | c.*1298G>T (n.*1298G>T) c.45G>T (p.Trp15Cys) | |
| 17 | g.44249160C>G | CA399777774 | SLC4A1 | c.*1298G>C (n.*1298G>C) c.45G>C (p.Trp15Cys) | |
| 17 | g.44249160C>T | CA399777776 | SLC4A1 | c.*1298G>A (n.*1298G>A) c.45G>A (p.Trp15Ter) | gnomAD v4 |
| 17 | g.44249161C>A | CA399777778 | SLC4A1 | c.*1297G>T (n.*1297G>T) c.44G>T (p.Trp15Leu) | |
| 17 | g.44249161C>G | CA399777779 | SLC4A1 | c.*1297G>C (n.*1297G>C) c.44G>C (p.Trp15Ser) | gnomAD v4 |
| 17 | g.44249161C>T | CA399777781 | SLC4A1 | c.*1297G>A (n.*1297G>A) c.44G>A (p.Trp15Ter) | |
| 17 | g.44249162A= | CA2261305782 | SLC4A1 | c.*1296T= (n.*1296T=) c.43T= (p.Trp15=) | |
| 17 | g.44249162A>C | CA290924020 | SLC4A1 | c.*1296T>G (n.*1296T>G) c.43T>G (p.Trp15Gly) | dbSNP |
| 17 | g.44249162A>G | CA399777785 | SLC4A1 | c.*1296T>C (n.*1296T>C) c.43T>C (p.Trp15Arg) | |
| 17 | g.44249162A>T | CA399777783 | SLC4A1 | c.*1296T>A (n.*1296T>A) c.43T>A (p.Trp15Arg) | |
| 17 | g.44249162_44249163insATTTT | CA2638189468 | SLC4A1 | c.*1295_*1296insAAAAT (n.*1295_*1296insAAAAT) c.42_43insAAAAT (p.Trp15LysfsTer?) | gnomAD v4 |
| 17 | g.44249163C>A | CA399777788 | SLC4A1 | c.*1295G>T (n.*1295G>T) c.42G>T (p.Arg14Ser) | gnomAD v4 |
| 17 | g.44249163C= | CA2261305783 | SLC4A1 | c.*1295G= (n.*1295G=) c.42G= (p.Arg14=) | |
| 17 | g.44249163C>G | CA399777790 | SLC4A1 | c.*1295G>C (n.*1295G>C) c.42G>C (p.Arg14Ser) | |
| 17 | g.44249163C>T | CA290924022 | SLC4A1 | c.*1295G>A (n.*1295G>A) c.42G>A (p.Arg14=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44249164dup | CA772273995 | SLC4A1 | c.*1295dup (n.*1295dup) c.42dup (p.Trp15ValfsTer10) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44249167_44249169del | CA2638189467 | SLC4A1 | c.*1293_*1295del (n.*1293_*1295del) c.40_42del (p.Arg14del) | gnomAD v4 |
| 17 | g.44249163_44249164insAGAGA | CA2638189469 | SLC4A1 | c.*1294_*1295insTCTCT (n.*1294_*1295insTCTCT) c.41_42insTCTCT (p.Arg14SerfsTer?) | gnomAD v4 |
| 17 | g.44249164C>A | CA399777792 | SLC4A1 | c.*1294G>T (n.*1294G>T) c.41G>T (p.Arg14Met) | gnomAD v4 |
| 17 | g.44249164C= | CA2261305784 | SLC4A1 | c.*1294G= (n.*1294G=) c.41G= (p.Arg14=) | |
| 17 | g.44249164C>G | CA399777794 | SLC4A1 | c.*1294G>C (n.*1294G>C) c.41G>C (p.Arg14Thr) | |
| 17 | g.44249164C>T | CA399777795 | SLC4A1 | c.*1294G>A (n.*1294G>A) c.41G>A (p.Arg14Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44249164_44249165insGAATGAG | CA2638189470 | SLC4A1 | c.*1293_*1294insCTCATTC (n.*1293_*1294insCTCATTC) c.40_41insCTCATTC (p.Arg14ThrfsTer13) | gnomAD v4 |
| 17 | g.44249165T>A | CA399777797 | SLC4A1 | c.*1293A>T (n.*1293A>T) c.40A>T (p.Arg14Trp) | |
| 17 | g.44249165T>C | CA399777799 | SLC4A1 | c.*1293A>G (n.*1293A>G) c.40A>G (p.Arg14Gly) | gnomAD v4 |
| 17 | g.44249165T>G | CA500284624 | SLC4A1 | c.*1293A>C (n.*1293A>C) c.40A>C (p.Arg14=) | |
| 17 | g.44249166C>A | CA399777801 | SLC4A1 | c.*1292G>T (n.*1292G>T) c.39G>T (p.Arg13Ser) | gnomAD v4 |
| 17 | g.44249166C>G | CA399777802 | SLC4A1 | c.*1292G>C (n.*1292G>C) c.39G>C (p.Arg13Ser) | |
| 17 | g.44249166C>T | CA500284626 | SLC4A1 | c.*1292G>A (n.*1292G>A) c.39G>A (p.Arg13=) | |
| 17 | g.44249167C>A | CA399777804 | SLC4A1 | c.*1291G>T (n.*1291G>T) c.38G>T (p.Arg13Met) | |
| 17 | g.44249167C= | CA2261305785 | SLC4A1 | c.*1291G= (n.*1291G=) c.38G= (p.Arg13=) | |
| 17 | g.44249167C>G | CA399777808 | SLC4A1 | c.*1291G>C (n.*1291G>C) c.38G>C (p.Arg13Thr) | |
| 17 | g.44249167C>T | CA399777810 | SLC4A1 | c.*1291G>A (n.*1291G>A) c.38G>A (p.Arg13Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44249168T>A | CA399777815 | SLC4A1 | c.*1290A>T (n.*1290A>T) c.37A>T (p.Arg13Trp) | |
| 17 | g.44249168T>C | CA399777813 | SLC4A1 | c.*1290A>G (n.*1290A>G) c.37A>G (p.Arg13Gly) | |
| 17 | g.44249168T>G | CA500284631 | SLC4A1 | c.*1290A>C (n.*1290A>C) c.37A>C (p.Arg13=) | |
| 17 | g.44249169C>A | CA399777816 | SLC4A1 | c.*1289G>T (n.*1289G>T) c.36G>T (p.Glu12Asp) | |
| 17 | g.44249169C= | CA2261305786 | SLC4A1 | c.*1289G= (n.*1289G=) c.36G= (p.Glu12=) | |
| 17 | g.44249169C>G | CA399777817 | SLC4A1 | c.*1289G>C (n.*1289G>C) c.36G>C (p.Glu12Asp) | |
| 17 | g.44249169C>T | CA500284636 | SLC4A1 | c.*1289G>A (n.*1289G>A) c.36G>A (p.Glu12=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44249170T>A | CA399777819 | SLC4A1 | c.*1288A>T (n.*1288A>T) c.35A>T (p.Glu12Val) | |
| 17 | g.44249170T>C | CA399777820 | SLC4A1 | c.*1288A>G (n.*1288A>G) c.35A>G (p.Glu12Gly) | gnomAD v4 |
| 17 | g.44249170T>G | CA399777821 | SLC4A1 | c.*1288A>C (n.*1288A>C) c.35A>C (p.Glu12Ala) | |
| 17 | g.44249171C>A | CA399777822 | SLC4A1 | c.*1287G>T (n.*1287G>T) c.34G>T (p.Glu12Ter) | gnomAD v4 |
| 17 | g.44249171C= | CA2261305787 | SLC4A1 | c.*1287G= (n.*1287G=) c.34G= (p.Glu12=) | |
| 17 | g.44249171C>G | CA399777824 | SLC4A1 | c.*1287G>C (n.*1287G>C) c.34G>C (p.Glu12Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44249171C>T | CA399777826 | SLC4A1 | c.*1287G>A (n.*1287G>A) c.34G>A (p.Glu12Lys) | |
| 17 | g.44249172T>A | CA399777828 | SLC4A1 | c.*1286A>T (n.*1286A>T) c.33A>T (p.Lys11Asn) | |
| 17 | g.44249172T>C | CA500284645 | SLC4A1 | c.*1286A>G (n.*1286A>G) c.33A>G (p.Lys11=) | |
| 17 | g.44249172T>G | CA399777829 | SLC4A1 | c.*1286A>C (n.*1286A>C) c.33A>C (p.Lys11Asn) | |
| 17 | g.44249175del | CA2638189471 | SLC4A1 | c.*1286del (n.*1286del) c.33del (p.Glu12ArgfsTer?) | gnomAD v4 |
| 17 | g.44249173T>A | CA399777832 | SLC4A1 | c.*1285A>T (n.*1285A>T) c.32A>T (p.Lys11Ile) | |
| 17 | g.44249173T>C | CA399777834 | SLC4A1 | c.*1285A>G (n.*1285A>G) c.32A>G (p.Lys11Arg) | |
| 17 | g.44249173T>G | CA399777835 | SLC4A1 | c.*1285A>C (n.*1285A>C) c.32A>C (p.Lys11Thr) | |
| 17 | g.44249174T>A | CA399777841 | SLC4A1 | c.*1284A>T (n.*1284A>T) c.31A>T (p.Lys11Ter) | |
| 17 | g.44249174T>C | CA399777838 | SLC4A1 | c.*1284A>G (n.*1284A>G) c.31A>G (p.Lys11Glu) | |
| 17 | g.44249174T>G | CA399777839 | SLC4A1 | c.*1284A>C (n.*1284A>C) c.31A>C (p.Lys11Gln) | |
| 17 | g.44249175T>A | CA399777843 | SLC4A1 | c.*1283A>T (n.*1283A>T) c.30A>T (p.Arg10Ser) | |
| 17 | g.44249175T>C | CA500284656 | SLC4A1 | c.*1283A>G (n.*1283A>G) c.30A>G (p.Arg10=) | |
| 17 | g.44249175T>G | CA399777845 | SLC4A1 | c.*1283A>C (n.*1283A>C) c.30A>C (p.Arg10Ser) | |
| 17 | g.44249176C>A | CA399777847 | SLC4A1 | c.*1282G>T (n.*1282G>T) c.29G>T (p.Arg10Ile) | gnomAD v4 |
| 17 | g.44249176C>G | CA399777848 | SLC4A1 | c.*1282G>C (n.*1282G>C) c.29G>C (p.Arg10Thr) | gnomAD v4 |
| 17 | g.44249176C>T | CA399777850 | SLC4A1 | c.*1282G>A (n.*1282G>A) c.29G>A (p.Arg10Lys) | |
| 17 | g.44249177T>A | CA399777852 | SLC4A1 | c.*1281A>T (n.*1281A>T) c.28A>T (p.Arg10Ter) | |
| 17 | g.44249177T>C | CA399777854 | SLC4A1 | c.*1281A>G (n.*1281A>G) c.28A>G (p.Arg10Gly) | |
| 17 | g.44249177T>G | CA500284665 | SLC4A1 | c.*1281A>C (n.*1281A>C) c.28A>C (p.Arg10=) | |
| 17 | g.44249178A>C | CA500284667 | SLC4A1 | c.*1280T>G (n.*1280T>G) c.27T>G (p.Gly9=) | |
| 17 | g.44249178A>G | CA500284669 | SLC4A1 | c.*1280T>C (n.*1280T>C) c.27T>C (p.Gly9=) | |
| 17 | g.44249178A>T | CA500284671 | SLC4A1 | c.*1280T>A (n.*1280T>A) c.27T>A (p.Gly9=) | |
| 17 | g.44249179C>A | CA399777856 | SLC4A1 | c.*1279G>T (n.*1279G>T) c.26G>T (p.Gly9Val) | gnomAD v4 |
| 17 | g.44249179C>G | CA399777858 | SLC4A1 | c.*1279G>C (n.*1279G>C) c.26G>C (p.Gly9Ala) | |
| 17 | g.44249179C>T | CA399777859 | SLC4A1 | c.*1279G>A (n.*1279G>A) c.26G>A (p.Gly9Asp) | |
| 17 | g.44249180C>A | CA399777862 | SLC4A1 | c.*1278G>T (n.*1278G>T) c.25G>T (p.Gly9Cys) | |
| 17 | g.44249180C= | CA2261305788 | SLC4A1 | c.*1278G= (n.*1278G=) c.25G= (p.Gly9=) | |
| 17 | g.44249180C>G | CA399777864 | SLC4A1 | c.*1278G>C (n.*1278G>C) c.25G>C (p.Gly9Arg) | |
| 17 | g.44249180C>T | CA290924024 | SLC4A1 | c.*1278G>A (n.*1278G>A) c.25G>A (p.Gly9Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44249181A>C | CA399777868 | SLC4A1 | c.*1277T>G (n.*1277T>G) c.24T>G (p.Ser8Arg) | |
| 17 | g.44249181A>G | CA500284683 | SLC4A1 | c.*1277T>C (n.*1277T>C) c.24T>C (p.Ser8=) | |
| 17 | g.44249181A>T | CA399777867 | SLC4A1 | c.*1277T>A (n.*1277T>A) c.24T>A (p.Ser8Arg) | |
| 17 | g.44249182C>A | CA399777871 | SLC4A1 | c.*1276G>T (n.*1276G>T) c.23G>T (p.Ser8Ile) | |
| 17 | g.44249182C= | CA2261305789 | SLC4A1 | c.*1276G= (n.*1276G=) c.23G= (p.Ser8=) | |
| 17 | g.44249182C>G | CA399777874 | SLC4A1 | c.*1276G>C (n.*1276G>C) c.23G>C (p.Ser8Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44249182C>T | CA399777873 | SLC4A1 | c.*1276G>A (n.*1276G>A) c.23G>A (p.Ser8Asn) | |
| 17 | g.44249183T>A | CA399777877 | SLC4A1 | c.*1275A>T (n.*1275A>T) c.22A>T (p.Ser8Cys) | |
| 17 | g.44249183T>C | CA399777878 | SLC4A1 | c.*1275A>G (n.*1275A>G) c.22A>G (p.Ser8Gly) | |
| 17 | g.44249183T>G | CA399777880 | SLC4A1 | c.*1275A>C (n.*1275A>C) c.22A>C (p.Ser8Arg) | |
| 17 | g.44249184T>A | CA500284694 | SLC4A1 | c.*1274A>T (n.*1274A>T) c.21A>T (p.Gly7=) | |
| 17 | g.44249184T>C | CA500284695 | SLC4A1 | c.*1274A>G (n.*1274A>G) c.21A>G (p.Gly7=) | |
| 17 | g.44249184T>G | CA500284697 | SLC4A1 | c.*1274A>C (n.*1274A>C) c.21A>C (p.Gly7=) | |
| 17 | g.44249184_44249185delinsTC | CA2261305790 | SLC4A1 | c.*1273_*1274delinsGA (n.*1273_*1274delinsGA) c.20_21delinsGA (p.Gly7=) | |
| 17 | g.44249185C>A | CA8599928 | SLC4A1 | c.*1273G>T (n.*1273G>T) c.20G>T (p.Gly7Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44249185C= | CA2261305791 | SLC4A1 | c.*1273G= (n.*1273G=) c.20G= (p.Gly7=) | |
| 17 | g.44249185C>G | CA399777883 | SLC4A1 | c.*1273G>C (n.*1273G>C) c.20G>C (p.Gly7Ala) | |
| 17 | g.44249185C>T | CA399777885 | SLC4A1 | c.*1273G>A (n.*1273G>A) c.20G>A (p.Gly7Glu) | |
| 17 | g.44249186del | CA8599927 | SLC4A1 | c.*1273del (n.*1273del) c.20del (p.Gly7GlufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44249186C>A | CA399777888 | SLC4A1 | c.*1272G>T (n.*1272G>T) c.19G>T (p.Gly7Ter) | |
| 17 | g.44249186C>G | CA399777889 | SLC4A1 | c.*1272G>C (n.*1272G>C) c.19G>C (p.Gly7Arg) | |
| 17 | g.44249186C>T | CA399777891 | SLC4A1 | c.*1272G>A (n.*1272G>A) c.19G>A (p.Gly7Arg) | |
| 17 | g.44249187T>A | CA500284707 | SLC4A1 | c.*1271A>T (n.*1271A>T) c.18A>T (p.Ser6=) | |
| 17 | g.44249187T>C | CA500284709 | SLC4A1 | c.*1271A>G (n.*1271A>G) c.18A>G (p.Ser6=) | gnomAD v4 |
| 17 | g.44249187T>G | CA500284711 | SLC4A1 | c.*1271A>C (n.*1271A>C) c.18A>C (p.Ser6=) | |
| 17 | g.44249188G>A | CA399777894 | SLC4A1 | c.*1270C>T (n.*1270C>T) c.17C>T (p.Ser6Leu) | |
| 17 | g.44249188G>C | CA399777895 | SLC4A1 | c.*1270C>G (n.*1270C>G) c.17C>G (p.Ser6Ter) | |
| 17 | g.44249188G>T | CA399777896 | SLC4A1 | c.*1270C>A (n.*1270C>A) c.17C>A (p.Ser6Ter) | gnomAD v4 |
| 17 | g.44249189A>C | CA399777901 | SLC4A1 | c.*1269T>G (n.*1269T>G) c.16T>G (p.Ser6Ala) | |
| 17 | g.44249189A>G | CA399777899 | SLC4A1 | c.*1269T>C (n.*1269T>C) c.16T>C (p.Ser6Pro) | |
| 17 | g.44249189A>T | CA399777900 | SLC4A1 | c.*1269T>A (n.*1269T>A) c.16T>A (p.Ser6Thr) | |
| 17 | g.44249190T>A | CA399777903 | SLC4A1 | c.*1268A>T (n.*1268A>T) c.15A>T (p.Glu5Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44249190T>C | CA500284723 | SLC4A1 | c.*1268A>G (n.*1268A>G) c.15A>G (p.Glu5=) | |
| 17 | g.44249190T>G | CA399777905 | SLC4A1 | c.*1268A>C (n.*1268A>C) c.15A>C (p.Glu5Asp) | |
| 17 | g.44249191T>A | CA399777907 | SLC4A1 | c.*1267A>T (n.*1267A>T) c.14A>T (p.Glu5Val) | |
| 17 | g.44249191T>C | CA399777909 | SLC4A1 | c.*1267A>G (n.*1267A>G) c.14A>G (p.Glu5Gly) | |
| 17 | g.44249191T>G | CA399777911 | SLC4A1 | c.*1267A>C (n.*1267A>C) c.14A>C (p.Glu5Ala) | |
| 17 | g.44249192C>A | CA399777912 | SLC4A1 | c.*1266G>T (n.*1266G>T) c.13G>T (p.Glu5Ter) | gnomAD v4 |
| 17 | g.44249192C>G | CA399777914 | SLC4A1 | c.*1266G>C (n.*1266G>C) c.13G>C (p.Glu5Gln) | |
| 17 | g.44249192C>T | CA399777916 | SLC4A1 | c.*1266G>A (n.*1266G>A) c.13G>A (p.Glu5Lys) | |
| 17 | g.44249193T>A | CA500284732 | SLC4A1 | c.*1265A>T (n.*1265A>T) c.12A>T (p.Thr4=) | |
| 17 | g.44249193T>C | CA500284733 | SLC4A1 | c.*1265A>G (n.*1265A>G) c.12A>G (p.Thr4=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44249193T>G | CA500284735 | SLC4A1 | c.*1265A>C (n.*1265A>C) c.12A>C (p.Thr4=) | |
| 17 | g.44249193T= | CA2261305792 | SLC4A1 | c.*1265A= (n.*1265A=) c.12A= (p.Thr4=) | |
| 17 | g.44249193_44249194insACCACTACC | CA2638189472 | SLC4A1 | c.*1264_*1265insGGTAGTGGT (n.*1264_*1265insGGTAGTGGT) c.11_12insGGTAGTGGT (p.Thr4_Glu5insValValVal) | gnomAD v4 |
| 17 | g.44249194G>A | CA399777918 | SLC4A1 | c.*1264C>T (n.*1264C>T) c.11C>T (p.Thr4Ile) | dbSNP gnomAD v4 |
| 17 | g.44249194G>C | CA399777919 | SLC4A1 | c.*1264C>G (n.*1264C>G) c.11C>G (p.Thr4Arg) | |
| 17 | g.44249194G= | CA2261305794 | SLC4A1 | c.*1264C= (n.*1264C=) c.11C= (p.Thr4=) | |
| 17 | g.44249194G>T | CA399777921 | SLC4A1 | c.*1264C>A (n.*1264C>A) c.11C>A (p.Thr4Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44249194_44249195delinsGT | CA2261305793 | SLC4A1 | c.*1263_*1264delinsAC (n.*1263_*1264delinsAC) c.10_11delinsAC (p.Thr4=) | |
| 17 | g.44249195T>A | CA399777926 | SLC4A1 | c.*1263A>T (n.*1263A>T) c.10A>T (p.Thr4Ser) | |
| 17 | g.44249195T>C | CA399777924 | SLC4A1 | c.*1263A>G (n.*1263A>G) c.10A>G (p.Thr4Ala) | |
| 17 | g.44249195T>G | CA399777928 | SLC4A1 | c.*1263A>C (n.*1263A>C) c.10A>C (p.Thr4Pro) | |
| 17 | g.44249197del | CA8599929 | SLC4A1 | c.*1263del (n.*1263del) c.10del (p.Thr4GlnfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44249196T>A | CA399777930 | SLC4A1 | c.*1262A>T (n.*1262A>T) c.9A>T (p.Glu3Asp) | |
| 17 | g.44249196T>C | CA500284741 | SLC4A1 | c.*1262A>G (n.*1262A>G) c.9A>G (p.Glu3=) | |
| 17 | g.44249196T>G | CA399777931 | SLC4A1 | c.*1262A>C (n.*1262A>C) c.9A>C (p.Glu3Asp) | |
| 17 | g.44249197T>A | CA399777934 | SLC4A1 | c.*1261A>T (n.*1261A>T) c.8A>T (p.Glu3Val) | |
| 17 | g.44249197T>C | CA399777935 | SLC4A1 | c.*1261A>G (n.*1261A>G) c.8A>G (p.Glu3Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44249197T>G | CA399777936 | SLC4A1 | c.*1261A>C (n.*1261A>C) c.8A>C (p.Glu3Ala) | |
| 17 | g.44249197T= | CA2261305795 | SLC4A1 | c.*1261A= (n.*1261A=) c.8A= (p.Glu3=) | |
| 17 | g.44249198C>A | CA399777942 | SLC4A1 | c.*1260G>T (n.*1260G>T) c.7G>T (p.Glu3Ter) | gnomAD v4 |
| 17 | g.44249198C>G | CA399777939 | SLC4A1 | c.*1260G>C (n.*1260G>C) c.7G>C (p.Glu3Gln) | |
| 17 | g.44249198C>T | CA399777941 | SLC4A1 | c.*1260G>A (n.*1260G>A) c.7G>A (p.Glu3Lys) | |
| 17 | g.44249199C>A | CA399777945 | SLC4A1 | c.*1259G>T (n.*1259G>T) c.6G>T (p.Glu2Asp) | |
| 17 | g.44249199C>G | CA399777946 | SLC4A1 | c.*1259G>C (n.*1259G>C) c.6G>C (p.Glu2Asp) | |
| 17 | g.44249199C>T | CA500284747 | SLC4A1 | c.*1259G>A (n.*1259G>A) c.6G>A (p.Glu2=) | |
| 17 | g.44249199_44249246dup | CA2638189473 | SLC4A1 | c.*1212_*1259dup (n.*1212_*1259dup) c.-42_6dup | gnomAD v4 |
| 17 | g.44249200T>A | CA399777948 | SLC4A1 | c.*1258A>T (n.*1258A>T) c.5A>T (p.Glu2Val) | |
| 17 | g.44249200T>C | CA399777949 | SLC4A1 | c.*1258A>G (n.*1258A>G) c.5A>G (p.Glu2Gly) | |
| 17 | g.44249200T>G | CA399777952 | SLC4A1 | c.*1258A>C (n.*1258A>C) c.5A>C (p.Glu2Ala) | |
| 17 | g.44249201C>A | CA399777954 | SLC4A1 | c.*1257G>T (n.*1257G>T) c.4G>T (p.Glu2Ter) | |
| 17 | g.44249201C= | CA2261305796 | SLC4A1 | c.*1257G= (n.*1257G=) c.4G= (p.Glu2=) | |
| 17 | g.44249201C>G | CA399777958 | SLC4A1 | c.*1257G>C (n.*1257G>C) c.4G>C (p.Glu2Gln) | |
| 17 | g.44249201C>T | CA399777956 | SLC4A1 | c.*1257G>A (n.*1257G>A) c.4G>A (p.Glu2Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44249202del | CA2638189474 | SLC4A1 | c.*1257del (n.*1257del) c.4del (p.Glu2ArgfsTer?) | gnomAD v4 |
| 17 | g.44249202C>A | CA399777960 | SLC4A1 | c.*1256G>T (n.*1256G>T) c.3G>T (p.Met1Ile) | |
| 17 | g.44249202C= | CA2261305797 | SLC4A1 | c.*1256G= (n.*1256G=) c.3G= (p.Met1=) | |
| 17 | g.44249202C>G | CA399777961 | SLC4A1 | c.*1256G>C (n.*1256G>C) c.3G>C (p.Met1Ile) | |
| 17 | g.44249202C>T | CA399777963 | SLC4A1 | c.*1256G>A (n.*1256G>A) c.3G>A (p.Met1Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44249203A= | CA2261305798 | SLC4A1 | c.*1255T= (n.*1255T=) c.2T= (p.Met1=) | |
| 17 | g.44249203A>C | CA399777965 | SLC4A1 | c.*1255T>G (n.*1255T>G) c.2T>G (p.Met1Arg) | |
| 17 | g.44249203A>G | CA399777967 | SLC4A1 | c.*1255T>C (n.*1255T>C) c.2T>C (p.Met1Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44249203A>T | CA399777969 | SLC4A1 | c.*1255T>A (n.*1255T>A) c.2T>A (p.Met1Lys) | |
| 17 | g.44249204T>A | CA399777970 | SLC4A1 | c.*1254A>T (n.*1254A>T) c.1A>T (p.Met1Leu) | |
| 17 | g.44249204T>C | CA399777972 | SLC4A1 | c.*1254A>G (n.*1254A>G) c.1A>G (p.Met1Val) | |
| 17 | g.44249204T>G | CA399777973 | SLC4A1 | c.*1254A>C (n.*1254A>C) c.1A>C (p.Met1Leu) | |
| 17 | g.44249207C>G | CA2638189475 | SLC4A1 | c.*1251G>C (n.*1251G>C) c.-3G>C (n.-3G>C) | gnomAD v4 |
| 17 | g.44249209C>A | CA2638189476 | SLC4A1 | c.*1249G>T (n.*1249G>T) c.-5G>T (n.-5G>T) | gnomAD v4 |
| 17 | g.44249211C>A | CA626123404 | SLC4A1 | c.*1247G>T (n.*1247G>T) c.-7G>T (n.-7G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44249211C= | CA2261305799 | SLC4A1 | c.*1247G= (n.*1247G=) c.-7G= (n.-7G=) | |
| 17 | g.44249211C>T | CA984002949 | SLC4A1 | c.*1247G>A (n.*1247G>A) c.-7G>A (n.-7G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44249212C= | CA2261305800 | SLC4A1 | c.*1246G= (n.*1246G=) c.-8G= (n.-8G=) | |
| 17 | g.44249212C>T | CA626123405 | SLC4A1 | c.*1246G>A (n.*1246G>A) c.-8G>A (n.-8G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44249214C= | CA2261305801 | SLC4A1 | c.*1244G= (n.*1244G=) c.-10G= (n.-10G=) | |
| 17 | g.44249214C>T | CA290924030 | SLC4A1 | c.*1244G>A (n.*1244G>A) c.-10G>A (n.-10G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44249217T>C | CA2733827267 | SLC4A1 | c.*1241A>G (n.*1241A>G) c.-13A>G (n.-13A>G) | dbSNP |
| 17 | g.44249218C>A | CA2638189477 | SLC4A1 | c.*1240G>T (n.*1240G>T) c.-14G>T (n.-14G>T) | gnomAD v4 |
| 17 | g.44249220C= | CA2261305802 | SLC4A1 | c.*1238G= (n.*1238G=) c.-16G= (n.-16G=) | |
| 17 | g.44249220C>T | CA626123406 | SLC4A1 | c.*1238G>A (n.*1238G>A) c.-16G>A (n.-16G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44249221G>A | CA8599930 | SLC4A1 | c.*1237C>T (n.*1237C>T) c.-17C>T (n.-17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44249221G= | CA2261305803 | SLC4A1 | c.*1237C= (n.*1237C=) c.-17C= (n.-17C=) |