| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.47680514C>A | CA406612845 | BICRA | c.1344C>A (p.Ser448Arg) c.618C>A (p.Ser206Arg) c.1188C>A (p.Ser396Arg) c.1206C>A (p.Ser402Arg) | gnomAD v4 |
| 19 | g.47680514C= | CA2339526661 | BICRA | c.1344C= (p.Ser448=) c.618C= (p.Ser206=) c.1188C= (p.Ser396=) c.1206C= (p.Ser402=) | |
| 19 | g.47680514C>G | CA406612847 | BICRA | c.1344C>G (p.Ser448Arg) c.618C>G (p.Ser206Arg) c.1188C>G (p.Ser396Arg) c.1206C>G (p.Ser402Arg) | dbSNP |
| 19 | g.47680514C>T | CA9541700 | BICRA | c.1344C>T (p.Ser448=) c.618C>T (p.Ser206=) c.1188C>T (p.Ser396=) c.1206C>T (p.Ser402=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.47680515G>A | CA406612849 | BICRA | c.1345G>A (p.Val449Ile) c.619G>A (p.Val207Ile) c.1189G>A (p.Val397Ile) c.1207G>A (p.Val403Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.47680515G>C | CA406612850 | BICRA | c.1345G>C (p.Val449Leu) c.619G>C (p.Val207Leu) c.1189G>C (p.Val397Leu) c.1207G>C (p.Val403Leu) | |
| 19 | g.47680515G= | CA2339526662 | BICRA | c.1345G= (p.Val449=) c.619G= (p.Val207=) c.1189G= (p.Val397=) c.1207G= (p.Val403=) | |
| 19 | g.47680515G>T | CA406612852 | BICRA | c.1345G>T (p.Val449Phe) c.619G>T (p.Val207Phe) c.1189G>T (p.Val397Phe) c.1207G>T (p.Val403Phe) | gnomAD v4 |
| 19 | g.47680516T>A | CA406612853 | BICRA | c.1346T>A (p.Val449Asp) c.620T>A (p.Val207Asp) c.1190T>A (p.Val397Asp) c.1208T>A (p.Val403Asp) | |
| 19 | g.47680516T>C | CA406612855 | BICRA | c.1346T>C (p.Val449Ala) c.620T>C (p.Val207Ala) c.1190T>C (p.Val397Ala) c.1208T>C (p.Val403Ala) | gnomAD v4 |
| 19 | g.47680516T>G | CA406612856 | BICRA | c.1346T>G (p.Val449Gly) c.620T>G (p.Val207Gly) c.1190T>G (p.Val397Gly) c.1208T>G (p.Val403Gly) | |
| 19 | g.47680517C>A | CA508257746 | BICRA | c.1347C>A (p.Val449=) c.621C>A (p.Val207=) c.1191C>A (p.Val397=) c.1209C>A (p.Val403=) | |
| 19 | g.47680517C= | CA2339526663 | BICRA | c.1347C= (p.Val449=) c.621C= (p.Val207=) c.1191C= (p.Val397=) c.1209C= (p.Val403=) | |
| 19 | g.47680517C>G | CA508257747 | BICRA | c.1347C>G (p.Val449=) c.621C>G (p.Val207=) c.1191C>G (p.Val397=) c.1209C>G (p.Val403=) | |
| 19 | g.47680517C>T | CA508257748 | BICRA | c.1347C>T (p.Val449=) c.621C>T (p.Val207=) c.1191C>T (p.Val397=) c.1209C>T (p.Val403=) | dbSNP |
| 19 | g.47680518C>A | CA406612863 | BICRA | c.1348C>A (p.His450Asn) c.622C>A (p.His208Asn) c.1192C>A (p.His398Asn) c.1210C>A (p.His404Asn) | gnomAD v4 |
| 19 | g.47680518C>G | CA406612861 | BICRA | c.1348C>G (p.His450Asp) c.622C>G (p.His208Asp) c.1192C>G (p.His398Asp) c.1210C>G (p.His404Asp) | |
| 19 | g.47680518C>T | CA406612860 | BICRA | c.1348C>T (p.His450Tyr) c.622C>T (p.His208Tyr) c.1192C>T (p.His398Tyr) c.1210C>T (p.His404Tyr) | |
| 19 | g.47680519A>C | CA406612868 | BICRA | c.1349A>C (p.His450Pro) c.623A>C (p.His208Pro) c.1193A>C (p.His398Pro) c.1211A>C (p.His404Pro) | |
| 19 | g.47680519A>G | CA406612866 | BICRA | c.1349A>G (p.His450Arg) c.623A>G (p.His208Arg) c.1193A>G (p.His398Arg) c.1211A>G (p.His404Arg) | |
| 19 | g.47680519A>T | CA406612871 | BICRA | c.1349A>T (p.His450Leu) c.623A>T (p.His208Leu) c.1193A>T (p.His398Leu) c.1211A>T (p.His404Leu) | |
| 19 | g.47680520C>A | CA406612872 | BICRA | c.1350C>A (p.His450Gln) c.624C>A (p.His208Gln) c.1194C>A (p.His398Gln) c.1212C>A (p.His404Gln) | |
| 19 | g.47680520C>G | CA406612875 | BICRA | c.1350C>G (p.His450Gln) c.624C>G (p.His208Gln) c.1194C>G (p.His398Gln) c.1212C>G (p.His404Gln) | |
| 19 | g.47680520C>T | CA508257749 | BICRA | c.1350C>T (p.His450=) c.624C>T (p.His208=) c.1194C>T (p.His398=) c.1212C>T (p.His404=) | gnomAD v4 |
| 19 | g.47680521C>A | CA406612877 | BICRA | c.1351C>A (p.Leu451Ile) c.625C>A (p.Leu209Ile) c.1195C>A (p.Leu399Ile) c.1213C>A (p.Leu405Ile) | gnomAD v4 |
| 19 | g.47680521C= | CA2339526664 | BICRA | c.1351C= (p.Leu451=) c.625C= (p.Leu209=) c.1195C= (p.Leu399=) c.1213C= (p.Leu405=) | |
| 19 | g.47680521C>G | CA406612880 | BICRA | c.1351C>G (p.Leu451Val) c.625C>G (p.Leu209Val) c.1195C>G (p.Leu399Val) c.1213C>G (p.Leu405Val) | dbSNP gnomAD v2 |
| 19 | g.47680521C>T | CA309233621 | BICRA | c.1351C>T (p.Leu451Phe) c.625C>T (p.Leu209Phe) c.1195C>T (p.Leu399Phe) c.1213C>T (p.Leu405Phe) | dbSNP gnomAD v4 |
| 19 | g.47680522T>A | CA406612884 | BICRA | c.1352T>A (p.Leu451His) c.626T>A (p.Leu209His) c.1196T>A (p.Leu399His) c.1214T>A (p.Leu405His) | gnomAD v4 |
| 19 | g.47680522T>C | CA406612887 | BICRA | c.1352T>C (p.Leu451Pro) c.626T>C (p.Leu209Pro) c.1196T>C (p.Leu399Pro) c.1214T>C (p.Leu405Pro) | |
| 19 | g.47680522T>G | CA406612889 | BICRA | c.1352T>G (p.Leu451Arg) c.626T>G (p.Leu209Arg) c.1196T>G (p.Leu399Arg) c.1214T>G (p.Leu405Arg) | |
| 19 | g.47680523C>A | CA508257750 | BICRA | c.1353C>A (p.Leu451=) c.627C>A (p.Leu209=) c.1197C>A (p.Leu399=) c.1215C>A (p.Leu405=) | dbSNP gnomAD v4 |
| 19 | g.47680523C= | CA2339526665 | BICRA | c.1353C= (p.Leu451=) c.627C= (p.Leu209=) c.1197C= (p.Leu399=) c.1215C= (p.Leu405=) | |
| 19 | g.47680523C>G | CA508257751 | BICRA | c.1353C>G (p.Leu451=) c.627C>G (p.Leu209=) c.1197C>G (p.Leu399=) c.1215C>G (p.Leu405=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.47680523C>T | CA309233623 | BICRA | c.1353C>T (p.Leu451=) c.627C>T (p.Leu209=) c.1197C>T (p.Leu399=) c.1215C>T (p.Leu405=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.47680524C>A | CA406612893 | BICRA | c.1354C>A (p.Leu452Met) c.628C>A (p.Leu210Met) c.1198C>A (p.Leu400Met) c.1216C>A (p.Leu406Met) | |
| 19 | g.47680524C>G | CA406612896 | BICRA | c.1354C>G (p.Leu452Val) c.628C>G (p.Leu210Val) c.1198C>G (p.Leu400Val) c.1216C>G (p.Leu406Val) | |
| 19 | g.47680524C>T | CA508257752 | BICRA | c.1354C>T (p.Leu452=) c.628C>T (p.Leu210=) c.1198C>T (p.Leu400=) c.1216C>T (p.Leu406=) | gnomAD v4 |
| 19 | g.47680525T>A | CA406612903 | BICRA | c.1355T>A (p.Leu452Gln) c.629T>A (p.Leu210Gln) c.1199T>A (p.Leu400Gln) c.1217T>A (p.Leu406Gln) | |
| 19 | g.47680525T>C | CA406612901 | BICRA | c.1355T>C (p.Leu452Pro) c.629T>C (p.Leu210Pro) c.1199T>C (p.Leu400Pro) c.1217T>C (p.Leu406Pro) | gnomAD v4 |
| 19 | g.47680525T>G | CA406612899 | BICRA | c.1355T>G (p.Leu452Arg) c.629T>G (p.Leu210Arg) c.1199T>G (p.Leu400Arg) c.1217T>G (p.Leu406Arg) | |
| 19 | g.47680526G>A | CA508257753 | BICRA | c.1356G>A (p.Leu452=) c.630G>A (p.Leu210=) c.1200G>A (p.Leu400=) c.1218G>A (p.Leu406=) | |
| 19 | g.47680526G>C | CA9541701 | BICRA | c.1356G>C (p.Leu452=) c.630G>C (p.Leu210=) c.1200G>C (p.Leu400=) c.1218G>C (p.Leu406=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.47680526G= | CA2339526666 | BICRA | c.1356G= (p.Leu452=) c.630G= (p.Leu210=) c.1200G= (p.Leu400=) c.1218G= (p.Leu406=) | |
| 19 | g.47680526G>T | CA508257754 | BICRA | c.1356G>T (p.Leu452=) c.630G>T (p.Leu210=) c.1200G>T (p.Leu400=) c.1218G>T (p.Leu406=) | gnomAD v4 |
| 19 | g.47680527A>C | CA406612908 | BICRA | c.1357A>C (p.Asn453His) c.631A>C (p.Asn211His) c.1201A>C (p.Asn401His) c.1219A>C (p.Asn407His) | |
| 19 | g.47680527A>G | CA406612910 | BICRA | c.1357A>G (p.Asn453Asp) c.631A>G (p.Asn211Asp) c.1201A>G (p.Asn401Asp) c.1219A>G (p.Asn407Asp) | |
| 19 | g.47680527A>T | CA406612914 | BICRA | c.1357A>T (p.Asn453Tyr) c.631A>T (p.Asn211Tyr) c.1201A>T (p.Asn401Tyr) c.1219A>T (p.Asn407Tyr) | |
| 19 | g.47680528A>C | CA406612917 | BICRA | c.1358A>C (p.Asn453Thr) c.632A>C (p.Asn211Thr) c.1202A>C (p.Asn401Thr) c.1220A>C (p.Asn407Thr) | |
| 19 | g.47680528A>G | CA406612920 | BICRA | c.1358A>G (p.Asn453Ser) c.632A>G (p.Asn211Ser) c.1202A>G (p.Asn401Ser) c.1220A>G (p.Asn407Ser) |