| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.4933074dup | CA915949478 | CHRNE,GP1BA | c.470dup (p.Gly158ArgfsTer16) c.-888+1272dup (n.-888+1272dup) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4933074del | CA2635578734 | CHRNE,GP1BA | c.470del (p.Pro157GlnfsTer4) c.-888+1272del (n.-888+1272del) | gnomAD v4 |
| 17 | g.4933074C>A | CA397316765 | CHRNE,GP1BA | c.470C>A (p.Pro157Gln) c.-888+1268G>T (n.-888+1268G>T) | |
| 17 | g.4933074C>G | CA397316767 | CHRNE,GP1BA | c.470C>G (p.Pro157Arg) c.-888+1268G>C (n.-888+1268G>C) | |
| 17 | g.4933074C>T | CA397316770 | CHRNE,GP1BA | c.470C>T (p.Pro157Leu) c.-888+1268G>A (n.-888+1268G>A) | gnomAD v4 |
| 17 | g.4933075A= | CA2244625424 | CHRNE,GP1BA | c.471A= (p.Pro157=) c.-888+1267T= (n.-888+1267T=) | |
| 17 | g.4933075A>C | CA497677418 | CHRNE,GP1BA | c.471A>C (p.Pro157=) c.-888+1267T>G (n.-888+1267T>G) | |
| 17 | g.4933075A>G | CA497677420 | CHRNE,GP1BA | c.471A>G (p.Pro157=) c.-888+1267T>C (n.-888+1267T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933075A>T | CA497677422 | CHRNE,GP1BA | c.471A>T (p.Pro157=) c.-888+1267T>A (n.-888+1267T>A) | |
| 17 | g.4933076G>A | CA397316774 | CHRNE,GP1BA | c.472G>A (p.Gly158Arg) c.-888+1266C>T (n.-888+1266C>T) | |
| 17 | g.4933076G>C | CA397316780 | CHRNE,GP1BA | c.472G>C (p.Gly158Arg) c.-888+1266C>G (n.-888+1266C>G) | gnomAD v4 |
| 17 | g.4933076G>T | CA397316781 | CHRNE,GP1BA | c.472G>T (p.Gly158Trp) c.-888+1266C>A (n.-888+1266C>A) | |
| 17 | g.4933077G>A | CA397316784 | CHRNE,GP1BA | c.473G>A (p.Gly158Glu) c.-888+1265C>T (n.-888+1265C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933077G>C | CA397316788 | CHRNE,GP1BA | c.473G>C (p.Gly158Ala) c.-888+1265C>G (n.-888+1265C>G) | |
| 17 | g.4933077G= | CA2244625425 | CHRNE,GP1BA | c.473G= (p.Gly158=) c.-888+1265C= (n.-888+1265C=) | |
| 17 | g.4933077G>T | CA397316791 | CHRNE,GP1BA | c.473G>T (p.Gly158Val) c.-888+1265C>A (n.-888+1265C>A) | |
| 17 | g.4933078G>A | CA497677423 | CHRNE,GP1BA | c.474G>A (p.Gly158=) c.-888+1264C>T (n.-888+1264C>T) | |
| 17 | g.4933078G>C | CA497677426 | CHRNE,GP1BA | c.474G>C (p.Gly158=) c.-888+1264C>G (n.-888+1264C>G) | |
| 17 | g.4933078G= | CA2244625426 | CHRNE,GP1BA | c.474G= (p.Gly158=) c.-888+1264C= (n.-888+1264C=) | |
| 17 | g.4933078G>T | CA8314781 | CHRNE,GP1BA | c.474G>T (p.Gly158=) c.-888+1264C>A (n.-888+1264C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933079C>A | CA397316797 | CHRNE,GP1BA | c.475C>A (p.Leu159Ile) c.-888+1263G>T (n.-888+1263G>T) | |
| 17 | g.4933079C>G | CA397316804 | CHRNE,GP1BA | c.475C>G (p.Leu159Val) c.-888+1263G>C (n.-888+1263G>C) | |
| 17 | g.4933079C>T | CA397316800 | CHRNE,GP1BA | c.475C>T (p.Leu159Phe) c.-888+1263G>A (n.-888+1263G>A) | |
| 17 | g.4933080T>A | CA397316806 | CHRNE,GP1BA | c.476T>A (p.Leu159His) c.-888+1262A>T (n.-888+1262A>T) | |
| 17 | g.4933080T>C | CA397316812 | CHRNE,GP1BA | c.476T>C (p.Leu159Pro) c.-888+1262A>G (n.-888+1262A>G) | |
| 17 | g.4933080T>G | CA397316809 | CHRNE,GP1BA | c.476T>G (p.Leu159Arg) c.-888+1262A>C (n.-888+1262A>C) | |
| 17 | g.4933081C>A | CA497677428 | CHRNE,GP1BA | c.477C>A (p.Leu159=) c.-888+1261G>T (n.-888+1261G>T) | |
| 17 | g.4933081C= | CA2244625427 | CHRNE,GP1BA | c.477C= (p.Leu159=) c.-888+1261G= (n.-888+1261G=) | |
| 17 | g.4933081C>G | CA497677430 | CHRNE,GP1BA | c.477C>G (p.Leu159=) c.-888+1261G>C (n.-888+1261G>C) | |
| 17 | g.4933081C>T | CA497677432 | CHRNE,GP1BA | c.477C>T (p.Leu159=) c.-888+1261G>A (n.-888+1261G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.4933082C>A | CA397316814 | CHRNE,GP1BA | c.478C>A (p.Leu160Met) c.-888+1260G>T (n.-888+1260G>T) | |
| 17 | g.4933082C>G | CA397316815 | CHRNE,GP1BA | c.478C>G (p.Leu160Val) c.-888+1260G>C (n.-888+1260G>C) | |
| 17 | g.4933082C>T | CA497677435 | CHRNE,GP1BA | c.478C>T (p.Leu160=) c.-888+1260G>A (n.-888+1260G>A) | |
| 17 | g.4933083T>A | CA397316818 | CHRNE,GP1BA | c.479T>A (p.Leu160Gln) c.-888+1259A>T (n.-888+1259A>T) | |
| 17 | g.4933083T>C | CA397316819 | CHRNE,GP1BA | c.479T>C (p.Leu160Pro) c.-888+1259A>G (n.-888+1259A>G) | |
| 17 | g.4933083T>G | CA397316820 | CHRNE,GP1BA | c.479T>G (p.Leu160Arg) c.-888+1259A>C (n.-888+1259A>C) | |
| 17 | g.4933084G>A | CA497677439 | CHRNE,GP1BA | c.480G>A (p.Leu160=) c.-888+1258C>T (n.-888+1258C>T) | |
| 17 | g.4933084G>C | CA497677437 | CHRNE,GP1BA | c.480G>C (p.Leu160=) c.-888+1258C>G (n.-888+1258C>G) | |
| 17 | g.4933084G>T | CA497677436 | CHRNE,GP1BA | c.480G>T (p.Leu160=) c.-888+1258C>A (n.-888+1258C>A) | |
| 17 | g.4933085A>C | CA397316821 | CHRNE,GP1BA | c.481A>C (p.Thr161Pro) c.-888+1257T>G (n.-888+1257T>G) | |
| 17 | g.4933085A>G | CA397316823 | CHRNE,GP1BA | c.481A>G (p.Thr161Ala) c.-888+1257T>C (n.-888+1257T>C) | |
| 17 | g.4933085A>T | CA397316825 | CHRNE,GP1BA | c.481A>T (p.Thr161Ser) c.-888+1257T>A (n.-888+1257T>A) | |
| 17 | g.4933086C>A | CA397316828 | CHRNE,GP1BA | c.482C>A (p.Thr161Lys) c.-888+1256G>T (n.-888+1256G>T) | |
| 17 | g.4933086C= | CA2244625428 | CHRNE,GP1BA | c.482C= (p.Thr161=) c.-888+1256G= (n.-888+1256G=) | |
| 17 | g.4933086C>G | CA397316831 | CHRNE,GP1BA | c.482C>G (p.Thr161Arg) c.-888+1256G>C (n.-888+1256G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933086C>T | CA8314782 | CHRNE,GP1BA | c.482C>T (p.Thr161Met) c.-888+1256G>A (n.-888+1256G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933087G>A | CA8314783 | CHRNE,GP1BA | c.483G>A (p.Thr161=) c.-888+1255C>T (n.-888+1255C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4933087G>C | CA497677445 | CHRNE,GP1BA | c.483G>C (p.Thr161=) c.-888+1255C>G (n.-888+1255C>G) | |
| 17 | g.4933087G= | CA2244625429 | CHRNE,GP1BA | c.483G= (p.Thr161=) c.-888+1255C= (n.-888+1255C=) | |
| 17 | g.4933087G>T | CA497677444 | CHRNE,GP1BA | c.483G>T (p.Thr161=) c.-888+1255C>A (n.-888+1255C>A) | |
| 17 | g.4933088C>A | CA397316841 | CHRNE,GP1BA | c.484C>A (p.Pro162Thr) c.-888+1254G>T (n.-888+1254G>T) | |
| 17 | g.4933088C>G | CA397316847 | CHRNE,GP1BA | c.484C>G (p.Pro162Ala) c.-888+1254G>C (n.-888+1254G>C) | |
| 17 | g.4933088C>T | CA397316844 | CHRNE,GP1BA | c.484C>T (p.Pro162Ser) c.-888+1254G>A (n.-888+1254G>A) | |
| 17 | g.4933089C>A | CA397316851 | CHRNE,GP1BA | c.485C>A (p.Pro162His) c.-888+1253G>T (n.-888+1253G>T) | |
| 17 | g.4933089C>G | CA397316854 | CHRNE,GP1BA | c.485C>G (p.Pro162Arg) c.-888+1253G>C (n.-888+1253G>C) | |
| 17 | g.4933089C>T | CA397316858 | CHRNE,GP1BA | c.485C>T (p.Pro162Leu) c.-888+1253G>A (n.-888+1253G>A) | gnomAD v4 |
| 17 | g.4933090C>A | CA497677452 | CHRNE,GP1BA | c.486C>A (p.Pro162=) c.-888+1252G>T (n.-888+1252G>T) | |
| 17 | g.4933090C= | CA2244625430 | CHRNE,GP1BA | c.486C= (p.Pro162=) c.-888+1252G= (n.-888+1252G=) | |
| 17 | g.4933090C>G | CA497677455 | CHRNE,GP1BA | c.486C>G (p.Pro162=) c.-888+1252G>C (n.-888+1252G>C) | |
| 17 | g.4933090C>T | CA497677453 | CHRNE,GP1BA | c.486C>T (p.Pro162=) c.-888+1252G>A (n.-888+1252G>A) | dbSNP |
| 17 | g.4933091A= | CA2244625431 | CHRNE,GP1BA | c.487A= (p.Thr163=) c.-888+1251T= (n.-888+1251T=) | |
| 17 | g.4933091A>C | CA397316862 | CHRNE,GP1BA | c.487A>C (p.Thr163Pro) c.-888+1251T>G (n.-888+1251T>G) | |
| 17 | g.4933091A>G | CA8314784 | CHRNE,GP1BA | c.487A>G (p.Thr163Ala) c.-888+1251T>C (n.-888+1251T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933091A>T | CA397316864 | CHRNE,GP1BA | c.487A>T (p.Thr163Ser) c.-888+1251T>A (n.-888+1251T>A) | |
| 17 | g.4933092C>A | CA397316868 | CHRNE,GP1BA | c.488C>A (p.Thr163Lys) c.-888+1250G>T (n.-888+1250G>T) | |
| 17 | g.4933092C>G | CA397316870 | CHRNE,GP1BA | c.488C>G (p.Thr163Arg) c.-888+1250G>C (n.-888+1250G>C) | |
| 17 | g.4933092C>T | CA397316872 | CHRNE,GP1BA | c.488C>T (p.Thr163Ile) c.-888+1250G>A (n.-888+1250G>A) | |
| 17 | g.4933093A>C | CA497677462 | CHRNE,GP1BA | c.489A>C (p.Thr163=) c.-888+1249T>G (n.-888+1249T>G) | |
| 17 | g.4933093A>G | CA497677463 | CHRNE,GP1BA | c.489A>G (p.Thr163=) c.-888+1249T>C (n.-888+1249T>C) | |
| 17 | g.4933093A>T | CA497677464 | CHRNE,GP1BA | c.489A>T (p.Thr163=) c.-888+1249T>A (n.-888+1249T>A) | |
| 17 | g.4933094C>A | CA397316877 | CHRNE,GP1BA | c.490C>A (p.Pro164Thr) c.-888+1248G>T (n.-888+1248G>T) | |
| 17 | g.4933094C= | CA2244625432 | CHRNE,GP1BA | c.490C= (p.Pro164=) c.-888+1248G= (n.-888+1248G=) | |
| 17 | g.4933094C>G | CA8314785 | CHRNE,GP1BA | c.490C>G (p.Pro164Ala) c.-888+1248G>C (n.-888+1248G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933094C>T | CA8314786 | CHRNE,GP1BA | c.490C>T (p.Pro164Ser) c.-888+1248G>A (n.-888+1248G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933095C>A | CA397316882 | CHRNE,GP1BA | c.491C>A (p.Pro164His) c.-888+1247G>T (n.-888+1247G>T) | |
| 17 | g.4933095C>G | CA397316883 | CHRNE,GP1BA | c.491C>G (p.Pro164Arg) c.-888+1247G>C (n.-888+1247G>C) | |
| 17 | g.4933095C>T | CA397316887 | CHRNE,GP1BA | c.491C>T (p.Pro164Leu) c.-888+1247G>A (n.-888+1247G>A) | |
| 17 | g.4933096C>A | CA497677468 | CHRNE,GP1BA | c.492C>A (p.Pro164=) c.-888+1246G>T (n.-888+1246G>T) | |
| 17 | g.4933096C>G | CA497677470 | CHRNE,GP1BA | c.492C>G (p.Pro164=) c.-888+1246G>C (n.-888+1246G>C) | |
| 17 | g.4933096C>T | CA497677471 | CHRNE,GP1BA | c.492C>T (p.Pro164=) c.-888+1246G>A (n.-888+1246G>A) | gnomAD v4 |
| 17 | g.4933097A>C | CA397316893 | CHRNE,GP1BA | c.493A>C (p.Lys165Gln) c.-888+1245T>G (n.-888+1245T>G) | |
| 17 | g.4933097A>G | CA397316895 | CHRNE,GP1BA | c.493A>G (p.Lys165Glu) c.-888+1245T>C (n.-888+1245T>C) | |
| 17 | g.4933097A>T | CA397316898 | CHRNE,GP1BA | c.493A>T (p.Lys165Ter) c.-888+1245T>A (n.-888+1245T>A) | |
| 17 | g.4933098A>C | CA397316899 | CHRNE,GP1BA | c.494A>C (p.Lys165Thr) c.-888+1244T>G (n.-888+1244T>G) | |
| 17 | g.4933098A>G | CA397316901 | CHRNE,GP1BA | c.494A>G (p.Lys165Arg) c.-888+1244T>C (n.-888+1244T>C) | |
| 17 | g.4933098A>T | CA397316900 | CHRNE,GP1BA | c.494A>T (p.Lys165Met) c.-888+1244T>A (n.-888+1244T>A) | |
| 17 | g.4933099G>A | CA497677472 | CHRNE,GP1BA | c.495G>A (p.Lys165=) c.-888+1243C>T (n.-888+1243C>T) | |
| 17 | g.4933099G>C | CA397316902 | CHRNE,GP1BA | c.495G>C (p.Lys165Asn) c.-888+1243C>G (n.-888+1243C>G) | dbSNP |
| 17 | g.4933099G= | CA2244625433 | CHRNE,GP1BA | c.495G= (p.Lys165=) c.-888+1243C= (n.-888+1243C=) | |
| 17 | g.4933099G>T | CA397316903 | CHRNE,GP1BA | c.495G>T (p.Lys165Asn) c.-888+1243C>A (n.-888+1243C>A) | |
| 17 | g.4933100C>A | CA397316904 | CHRNE,GP1BA | c.496C>A (p.Leu166Met) c.-888+1242G>T (n.-888+1242G>T) | gnomAD v4 |
| 17 | g.4933100C>G | CA397316905 | CHRNE,GP1BA | c.496C>G (p.Leu166Val) c.-888+1242G>C (n.-888+1242G>C) | |
| 17 | g.4933100C>T | CA497677476 | CHRNE,GP1BA | c.496C>T (p.Leu166=) c.-888+1242G>A (n.-888+1242G>A) | |
| 17 | g.4933101T>A | CA397316906 | CHRNE,GP1BA | c.497T>A (p.Leu166Gln) c.-888+1241A>T (n.-888+1241A>T) | |
| 17 | g.4933101T>C | CA397316910 | CHRNE,GP1BA | c.497T>C (p.Leu166Pro) c.-888+1241A>G (n.-888+1241A>G) | |
| 17 | g.4933101T>G | CA397316909 | CHRNE,GP1BA | c.497T>G (p.Leu166Arg) c.-888+1241A>C (n.-888+1241A>C) | |
| 17 | g.4933102G>A | CA497677480 | CHRNE,GP1BA | c.498G>A (p.Leu166=) c.-888+1240C>T (n.-888+1240C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933102G>C | CA497677481 | CHRNE,GP1BA | c.498G>C (p.Leu166=) c.-888+1240C>G (n.-888+1240C>G) | |
| 17 | g.4933102G= | CA2244625434 | CHRNE,GP1BA | c.498G= (p.Leu166=) c.-888+1240C= (n.-888+1240C=) | |
| 17 | g.4933102G>T | CA497677482 | CHRNE,GP1BA | c.498G>T (p.Leu166=) c.-888+1240C>A (n.-888+1240C>A) | |
| 17 | g.4933103G>A | CA397316912 | CHRNE,GP1BA | c.499G>A (p.Glu167Lys) c.-888+1239C>T (n.-888+1239C>T) | dbSNP gnomAD v4 |
| 17 | g.4933103G>C | CA8314787 | CHRNE,GP1BA | c.499G>C (p.Glu167Gln) c.-888+1239C>G (n.-888+1239C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933103G= | CA2244625435 | CHRNE,GP1BA | c.499G= (p.Glu167=) c.-888+1239C= (n.-888+1239C=) | |
| 17 | g.4933103G>T | CA397316915 | CHRNE,GP1BA | c.499G>T (p.Glu167Ter) c.-888+1239C>A (n.-888+1239C>A) | ClinVar dbSNP |
| 17 | g.4933104A= | CA2244625436 | CHRNE,GP1BA | c.500A= (p.Glu167=) c.-888+1238T= (n.-888+1238T=) | |
| 17 | g.4933104A>C | CA397316921 | CHRNE,GP1BA | c.500A>C (p.Glu167Ala) c.-888+1238T>G (n.-888+1238T>G) | |
| 17 | g.4933104A>G | CA397316933 | CHRNE,GP1BA | c.500A>G (p.Glu167Gly) c.-888+1238T>C (n.-888+1238T>C) | gnomAD v4 |
| 17 | g.4933104A>T | CA8314788 | CHRNE,GP1BA | c.500A>T (p.Glu167Val) c.-888+1238T>A (n.-888+1238T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933105G>A | CA497677491 | CHRNE,GP1BA | c.501G>A (p.Glu167=) c.-888+1237C>T (n.-888+1237C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933105G>C | CA397316938 | CHRNE,GP1BA | c.501G>C (p.Glu167Asp) c.-888+1237C>G (n.-888+1237C>G) | |
| 17 | g.4933105G= | CA2244625437 | CHRNE,GP1BA | c.501G= (p.Glu167=) c.-888+1237C= (n.-888+1237C=) | |
| 17 | g.4933105G>T | CA397316941 | CHRNE,GP1BA | c.501G>T (p.Glu167Asp) c.-888+1237C>A (n.-888+1237C>A) | |
| 17 | g.4933106A= | CA2244625438 | CHRNE,GP1BA | c.502A= (p.Lys168=) c.-888+1236T= (n.-888+1236T=) | |
| 17 | g.4933106A>C | CA397316944 | CHRNE,GP1BA | c.502A>C (p.Lys168Gln) c.-888+1236T>G (n.-888+1236T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933106A>G | CA397316945 | CHRNE,GP1BA | c.502A>G (p.Lys168Glu) c.-888+1236T>C (n.-888+1236T>C) | |
| 17 | g.4933106A>T | CA397316948 | CHRNE,GP1BA | c.502A>T (p.Lys168Ter) c.-888+1236T>A (n.-888+1236T>A) | |
| 17 | g.4933107A>C | CA397316957 | CHRNE,GP1BA | c.503A>C (p.Lys168Thr) c.-888+1235T>G (n.-888+1235T>G) | |
| 17 | g.4933107A>G | CA397316954 | CHRNE,GP1BA | c.503A>G (p.Lys168Arg) c.-888+1235T>C (n.-888+1235T>C) | |
| 17 | g.4933107A>T | CA397316951 | CHRNE,GP1BA | c.503A>T (p.Lys168Met) c.-888+1235T>A (n.-888+1235T>A) | |
| 17 | g.4933108G>A | CA497677496 | CHRNE,GP1BA | c.504G>A (p.Lys168=) c.-888+1234C>T (n.-888+1234C>T) | dbSNP gnomAD v4 |
| 17 | g.4933108G>C | CA397316959 | CHRNE,GP1BA | c.504G>C (p.Lys168Asn) c.-888+1234C>G (n.-888+1234C>G) | |
| 17 | g.4933108G= | CA2244625439 | CHRNE,GP1BA | c.504G= (p.Lys168=) c.-888+1234C= (n.-888+1234C=) | |
| 17 | g.4933108G>T | CA397316961 | CHRNE,GP1BA | c.504G>T (p.Lys168Asn) c.-888+1234C>A (n.-888+1234C>A) | |
| 17 | g.4933109C>A | CA397316964 | CHRNE,GP1BA | c.505C>A (p.Leu169Ile) c.-888+1233G>T (n.-888+1233G>T) | |
| 17 | g.4933109C>G | CA397316966 | CHRNE,GP1BA | c.505C>G (p.Leu169Val) c.-888+1233G>C (n.-888+1233G>C) | |
| 17 | g.4933109C>T | CA397316968 | CHRNE,GP1BA | c.505C>T (p.Leu169Phe) c.-888+1233G>A (n.-888+1233G>A) | |
| 17 | g.4933110T>A | CA397316973 | CHRNE,GP1BA | c.506T>A (p.Leu169His) c.-888+1232A>T (n.-888+1232A>T) | |
| 17 | g.4933110T>C | CA397316975 | CHRNE,GP1BA | c.506T>C (p.Leu169Pro) c.-888+1232A>G (n.-888+1232A>G) | |
| 17 | g.4933110T>G | CA397316976 | CHRNE,GP1BA | c.506T>G (p.Leu169Arg) c.-888+1232A>C (n.-888+1232A>C) | |
| 17 | g.4933111C>A | CA497677507 | CHRNE,GP1BA | c.507C>A (p.Leu169=) c.-888+1231G>T (n.-888+1231G>T) | |
| 17 | g.4933111C>G | CA497677503 | CHRNE,GP1BA | c.507C>G (p.Leu169=) c.-888+1231G>C (n.-888+1231G>C) | gnomAD v4 |
| 17 | g.4933111C>T | CA497677506 | CHRNE,GP1BA | c.507C>T (p.Leu169=) c.-888+1231G>A (n.-888+1231G>A) | |
| 17 | g.4933112A= | CA2244625441 | CHRNE,GP1BA | c.508A= (p.Ser170=) c.-888+1230T= (n.-888+1230T=) | |
| 17 | g.4933112A>C | CA397316980 | CHRNE,GP1BA | c.508A>C (p.Ser170Arg) c.-888+1230T>G (n.-888+1230T>G) | |
| 17 | g.4933112A>G | CA397316992 | CHRNE,GP1BA | c.508A>G (p.Ser170Gly) c.-888+1230T>C (n.-888+1230T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933112A>T | CA397316999 | CHRNE,GP1BA | c.508A>T (p.Ser170Cys) c.-888+1230T>A (n.-888+1230T>A) | |
| 17 | g.4933112_4933116delinsAGTCT | CA2244625440 | CHRNE,GP1BA | c.508_512delinsAGTCT (p.Ser170=) c.-888+1226_-888+1230delinsAGACT (n.-888+1226_-888+1230delinsAGACT) | |
| 17 | g.4933113G>A | CA397317002 | CHRNE,GP1BA | c.509G>A (p.Ser170Asn) c.-888+1229C>T (n.-888+1229C>T) | |
| 17 | g.4933113G>C | CA397317005 | CHRNE,GP1BA | c.509G>C (p.Ser170Thr) c.-888+1229C>G (n.-888+1229C>G) | |
| 17 | g.4933113G>T | CA397317008 | CHRNE,GP1BA | c.509G>T (p.Ser170Ile) c.-888+1229C>A (n.-888+1229C>A) | |
| 17 | g.4933114_4933117del | CA624856164 | CHRNE,GP1BA | c.510_513del (p.Ser170ArgfsTer6) c.-888+1226_-888+1229del (n.-888+1226_-888+1229del) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933114T>A | CA397317011 | CHRNE,GP1BA | c.510T>A (p.Ser170Arg) c.-888+1228A>T (n.-888+1228A>T) | |
| 17 | g.4933114T>C | CA497677512 | CHRNE,GP1BA | c.510T>C (p.Ser170=) c.-888+1228A>G (n.-888+1228A>G) | gnomAD v4 |
| 17 | g.4933114T>G | CA397317013 | CHRNE,GP1BA | c.510T>G (p.Ser170Arg) c.-888+1228A>C (n.-888+1228A>C) | |
| 17 | g.4933115C>A | CA397317014 | CHRNE,GP1BA | c.511C>A (p.Leu171Met) c.-888+1227G>T (n.-888+1227G>T) | |
| 17 | g.4933115C>G | CA397317015 | CHRNE,GP1BA | c.511C>G (p.Leu171Val) c.-888+1227G>C (n.-888+1227G>C) | |
| 17 | g.4933115C>T | CA497677513 | CHRNE,GP1BA | c.511C>T (p.Leu171=) c.-888+1227G>A (n.-888+1227G>A) | |
| 17 | g.4933116T>A | CA397317016 | CHRNE,GP1BA | c.512T>A (p.Leu171Gln) c.-888+1226A>T (n.-888+1226A>T) | |
| 17 | g.4933116T>C | CA397317018 | CHRNE,GP1BA | c.512T>C (p.Leu171Pro) c.-888+1226A>G (n.-888+1226A>G) | gnomAD v4 |
| 17 | g.4933116T>G | CA397317022 | CHRNE,GP1BA | c.512T>G (p.Leu171Arg) c.-888+1226A>C (n.-888+1226A>C) | |
| 17 | g.4933117G>A | CA497677520 | CHRNE,GP1BA | c.513G>A (p.Leu171=) c.-888+1225C>T (n.-888+1225C>T) | |
| 17 | g.4933117G>C | CA497677517 | CHRNE,GP1BA | c.513G>C (p.Leu171=) c.-888+1225C>G (n.-888+1225C>G) | |
| 17 | g.4933117G>T | CA497677519 | CHRNE,GP1BA | c.513G>T (p.Leu171=) c.-888+1225C>A (n.-888+1225C>A) | |
| 17 | g.4933118G>A | CA397317026 | CHRNE,GP1BA | c.514G>A (p.Ala172Thr) c.-888+1224C>T (n.-888+1224C>T) | |
| 17 | g.4933118G>C | CA397317028 | CHRNE,GP1BA | c.514G>C (p.Ala172Pro) c.-888+1224C>G (n.-888+1224C>G) | |
| 17 | g.4933118G>T | CA397317030 | CHRNE,GP1BA | c.514G>T (p.Ala172Ser) c.-888+1224C>A (n.-888+1224C>A) | |
| 17 | g.4933119C>A | CA397317035 | CHRNE,GP1BA | c.515C>A (p.Ala172Asp) c.-888+1223G>T (n.-888+1223G>T) | |
| 17 | g.4933119C= | CA2244625442 | CHRNE,GP1BA | c.515C= (p.Ala172=) c.-888+1223G= (n.-888+1223G=) | |
| 17 | g.4933119C>G | CA397317038 | CHRNE,GP1BA | c.515C>G (p.Ala172Gly) c.-888+1223G>C (n.-888+1223G>C) | |
| 17 | g.4933119C>T | CA116662 | CHRNE,GP1BA | c.515C>T (p.Ala172Val) c.-888+1223G>A (n.-888+1223G>A) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4933120T>A | CA497677528 | CHRNE,GP1BA | c.516T>A (p.Ala172=) c.-888+1222A>T (n.-888+1222A>T) | |
| 17 | g.4933120T>C | CA497677530 | CHRNE,GP1BA | c.516T>C (p.Ala172=) c.-888+1222A>G (n.-888+1222A>G) | |
| 17 | g.4933120T>G | CA497677532 | CHRNE,GP1BA | c.516T>G (p.Ala172=) c.-888+1222A>C (n.-888+1222A>C) | |
| 17 | g.4933120_4933123delinsTAAC | CA2244625443 | CHRNE,GP1BA | c.516_519delinsTAAC (p.Ala172=) c.-888+1219_-888+1222delinsGTTA (n.-888+1219_-888+1222delinsGTTA) | |
| 17 | g.4933121A>C | CA397317049 | CHRNE,GP1BA | c.517A>C (p.Asn173His) c.-888+1221T>G (n.-888+1221T>G) | gnomAD v4 |
| 17 | g.4933121A>G | CA397317051 | CHRNE,GP1BA | c.517A>G (p.Asn173Asp) c.-888+1221T>C (n.-888+1221T>C) | |
| 17 | g.4933121A>T | CA397317055 | CHRNE,GP1BA | c.517A>T (p.Asn173Tyr) c.-888+1221T>A (n.-888+1221T>A) | |
| 17 | g.4933127_4933129del | CA980971588 | CHRNE,GP1BA | c.523_525del (p.Asn175del) c.-888+1219_-888+1221del (n.-888+1219_-888+1221del) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933122A>C | CA397317059 | CHRNE,GP1BA | c.518A>C (p.Asn173Thr) c.-888+1220T>G (n.-888+1220T>G) | |
| 17 | g.4933122A>G | CA397317064 | CHRNE,GP1BA | c.518A>G (p.Asn173Ser) c.-888+1220T>C (n.-888+1220T>C) | gnomAD v4 |
| 17 | g.4933122A>T | CA397317061 | CHRNE,GP1BA | c.518A>T (p.Asn173Ile) c.-888+1220T>A (n.-888+1220T>A) | |
| 17 | g.4933123C>A | CA397317068 | CHRNE,GP1BA | c.519C>A (p.Asn173Lys) c.-888+1219G>T (n.-888+1219G>T) | |
| 17 | g.4933123C>G | CA397317069 | CHRNE,GP1BA | c.519C>G (p.Asn173Lys) c.-888+1219G>C (n.-888+1219G>C) | |
| 17 | g.4933123C>T | CA497677538 | CHRNE,GP1BA | c.519C>T (p.Asn173=) c.-888+1219G>A (n.-888+1219G>A) | |
| 17 | g.4933124A>C | CA397317070 | CHRNE,GP1BA | c.520A>C (p.Asn174His) c.-888+1218T>G (n.-888+1218T>G) | |
| 17 | g.4933124A>G | CA397317071 | CHRNE,GP1BA | c.520A>G (p.Asn174Asp) c.-888+1218T>C (n.-888+1218T>C) | ClinVar |
| 17 | g.4933124A>T | CA397317072 | CHRNE,GP1BA | c.520A>T (p.Asn174Tyr) c.-888+1218T>A (n.-888+1218T>A) | |
| 17 | g.4933125A= | CA2244625444 | CHRNE,GP1BA | c.521A= (p.Asn174=) c.-888+1217T= (n.-888+1217T=) | |
| 17 | g.4933125A>C | CA397317073 | CHRNE,GP1BA | c.521A>C (p.Asn174Thr) c.-888+1217T>G (n.-888+1217T>G) | |
| 17 | g.4933125A>G | CA397317074 | CHRNE,GP1BA | c.521A>G (p.Asn174Ser) c.-888+1217T>C (n.-888+1217T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933125A>T | CA397317075 | CHRNE,GP1BA | c.521A>T (p.Asn174Ile) c.-888+1217T>A (n.-888+1217T>A) | |
| 17 | g.4933126C>A | CA397317077 | CHRNE,GP1BA | c.522C>A (p.Asn174Lys) c.-888+1216G>T (n.-888+1216G>T) | gnomAD v4 |
| 17 | g.4933126C>G | CA397317080 | CHRNE,GP1BA | c.522C>G (p.Asn174Lys) c.-888+1216G>C (n.-888+1216G>C) | |
| 17 | g.4933126C>T | CA497677544 | CHRNE,GP1BA | c.522C>T (p.Asn174=) c.-888+1216G>A (n.-888+1216G>A) | |
| 17 | g.4933127A>C | CA397317081 | CHRNE,GP1BA | c.523A>C (p.Asn175His) c.-888+1215T>G (n.-888+1215T>G) | |
| 17 | g.4933127A>G | CA397317083 | CHRNE,GP1BA | c.523A>G (p.Asn175Asp) c.-888+1215T>C (n.-888+1215T>C) | |
| 17 | g.4933127A>T | CA397317085 | CHRNE,GP1BA | c.523A>T (p.Asn175Tyr) c.-888+1215T>A (n.-888+1215T>A) | |
| 17 | g.4933128A>C | CA397317087 | CHRNE,GP1BA | c.524A>C (p.Asn175Thr) c.-888+1214T>G (n.-888+1214T>G) | |
| 17 | g.4933128A>G | CA397317089 | CHRNE,GP1BA | c.524A>G (p.Asn175Ser) c.-888+1214T>C (n.-888+1214T>C) | |
| 17 | g.4933128A>T | CA397317088 | CHRNE,GP1BA | c.524A>T (p.Asn175Ile) c.-888+1214T>A (n.-888+1214T>A) | |
| 17 | g.4933129C>A | CA397317090 | CHRNE,GP1BA | c.525C>A (p.Asn175Lys) c.-888+1213G>T (n.-888+1213G>T) | |
| 17 | g.4933129C= | CA2244625445 | CHRNE,GP1BA | c.525C= (p.Asn175=) c.-888+1213G= (n.-888+1213G=) | |
| 17 | g.4933129C>G | CA397317091 | CHRNE,GP1BA | c.525C>G (p.Asn175Lys) c.-888+1213G>C (n.-888+1213G>C) | |
| 17 | g.4933129C>T | CA287216219 | CHRNE,GP1BA | c.525C>T (p.Asn175=) c.-888+1213G>A (n.-888+1213G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933130T>A | CA397317095 | CHRNE,GP1BA | c.526T>A (p.Leu176Met) c.-888+1212A>T (n.-888+1212A>T) | |
| 17 | g.4933130T>C | CA497677554 | CHRNE,GP1BA | c.526T>C (p.Leu176=) c.-888+1212A>G (n.-888+1212A>G) | |
| 17 | g.4933130T>G | CA397317097 | CHRNE,GP1BA | c.526T>G (p.Leu176Val) c.-888+1212A>C (n.-888+1212A>C) | COSMIC |
| 17 | g.4933131T>A | CA397317101 | CHRNE,GP1BA | c.527T>A (p.Leu176Ter) c.-888+1211A>T (n.-888+1211A>T) | |
| 17 | g.4933131T>C | CA397317102 | CHRNE,GP1BA | c.527T>C (p.Leu176Ser) c.-888+1211A>G (n.-888+1211A>G) | |
| 17 | g.4933131T>G | CA397317103 | CHRNE,GP1BA | c.527T>G (p.Leu176Trp) c.-888+1211A>C (n.-888+1211A>C) | |
| 17 | g.4933132G>A | CA497677558 | CHRNE,GP1BA | c.528G>A (p.Leu176=) c.-888+1210C>T (n.-888+1210C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933132G>C | CA397317108 | CHRNE,GP1BA | c.528G>C (p.Leu176Phe) c.-888+1210C>G (n.-888+1210C>G) | |
| 17 | g.4933132G= | CA2244625446 | CHRNE,GP1BA | c.528G= (p.Leu176=) c.-888+1210C= (n.-888+1210C=) | |
| 17 | g.4933132G>T | CA397317112 | CHRNE,GP1BA | c.528G>T (p.Leu176Phe) c.-888+1210C>A (n.-888+1210C>A) | |
| 17 | g.4933133A>C | CA397317125 | CHRNE,GP1BA | c.529A>C (p.Thr177Pro) c.-888+1209T>G (n.-888+1209T>G) | |
| 17 | g.4933133A>G | CA397317128 | CHRNE,GP1BA | c.529A>G (p.Thr177Ala) c.-888+1209T>C (n.-888+1209T>C) | |
| 17 | g.4933133A>T | CA397317122 | CHRNE,GP1BA | c.529A>T (p.Thr177Ser) c.-888+1209T>A (n.-888+1209T>A) | |
| 17 | g.4933134C>A | CA397317138 | CHRNE,GP1BA | c.530C>A (p.Thr177Asn) c.-888+1208G>T (n.-888+1208G>T) | |
| 17 | g.4933134C= | CA2244625447 | CHRNE,GP1BA | c.530C= (p.Thr177=) c.-888+1208G= (n.-888+1208G=) | |
| 17 | g.4933134C>G | CA397317131 | CHRNE,GP1BA | c.530C>G (p.Thr177Ser) c.-888+1208G>C (n.-888+1208G>C) | |
| 17 | g.4933134C>T | CA397317134 | CHRNE,GP1BA | c.530C>T (p.Thr177Ile) c.-888+1208G>A (n.-888+1208G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933135T>A | CA497677563 | CHRNE,GP1BA | c.531T>A (p.Thr177=) c.-888+1207A>T (n.-888+1207A>T) | |
| 17 | g.4933135T>C | CA497677565 | CHRNE,GP1BA | c.531T>C (p.Thr177=) c.-888+1207A>G (n.-888+1207A>G) | |
| 17 | g.4933135T>G | CA497677566 | CHRNE,GP1BA | c.531T>G (p.Thr177=) c.-888+1207A>C (n.-888+1207A>C) | |
| 17 | g.4933136G>A | CA8314789 | CHRNE,GP1BA | c.532G>A (p.Glu178Lys) c.-888+1206C>T (n.-888+1206C>T) | dbSNP ExAC gnomAD v2 |
| 17 | g.4933136G>C | CA397317144 | CHRNE,GP1BA | c.532G>C (p.Glu178Gln) c.-888+1206C>G (n.-888+1206C>G) | |
| 17 | g.4933136G= | CA2244625448 | CHRNE,GP1BA | c.532G= (p.Glu178=) c.-888+1206C= (n.-888+1206C=) | |
| 17 | g.4933136G>T | CA397317148 | CHRNE,GP1BA | c.532G>T (p.Glu178Ter) c.-888+1206C>A (n.-888+1206C>A) | gnomAD v4 |
| 17 | g.4933137A>C | CA397317151 | CHRNE,GP1BA | c.533A>C (p.Glu178Ala) c.-888+1205T>G (n.-888+1205T>G) | |
| 17 | g.4933137A>G | CA397317152 | CHRNE,GP1BA | c.533A>G (p.Glu178Gly) c.-888+1205T>C (n.-888+1205T>C) | |
| 17 | g.4933137A>T | CA397317153 | CHRNE,GP1BA | c.533A>T (p.Glu178Val) c.-888+1205T>A (n.-888+1205T>A) | |
| 17 | g.4933138G>A | CA497677568 | CHRNE,GP1BA | c.534G>A (p.Glu178=) c.-888+1204C>T (n.-888+1204C>T) | |
| 17 | g.4933138G>C | CA397317154 | CHRNE,GP1BA | c.534G>C (p.Glu178Asp) c.-888+1204C>G (n.-888+1204C>G) | gnomAD v4 |
| 17 | g.4933138G>T | CA397317155 | CHRNE,GP1BA | c.534G>T (p.Glu178Asp) c.-888+1204C>A (n.-888+1204C>A) | |
| 17 | g.4933139C>A | CA397317157 | CHRNE,GP1BA | c.535C>A (p.Leu179Ile) c.-888+1203G>T (n.-888+1203G>T) | |
| 17 | g.4933139C>G | CA397317159 | CHRNE,GP1BA | c.535C>G (p.Leu179Val) c.-888+1203G>C (n.-888+1203G>C) | |
| 17 | g.4933139C>T | CA397317163 | CHRNE,GP1BA | c.535C>T (p.Leu179Phe) c.-888+1203G>A (n.-888+1203G>A) | |
| 17 | g.4933140T>A | CA397317173 | CHRNE,GP1BA | c.536T>A (p.Leu179His) c.-888+1202A>T (n.-888+1202A>T) | |
| 17 | g.4933140T>C | CA397317166 | CHRNE,GP1BA | c.536T>C (p.Leu179Pro) c.-888+1202A>G (n.-888+1202A>G) | |
| 17 | g.4933140T>G | CA397317171 | CHRNE,GP1BA | c.536T>G (p.Leu179Arg) c.-888+1202A>C (n.-888+1202A>C) | |
| 17 | g.4933141C>A | CA497677574 | CHRNE,GP1BA | c.537C>A (p.Leu179=) c.-888+1201G>T (n.-888+1201G>T) | |
| 17 | g.4933141C>G | CA497677575 | CHRNE,GP1BA | c.537C>G (p.Leu179=) c.-888+1201G>C (n.-888+1201G>C) | |
| 17 | g.4933141C>T | CA497677577 | CHRNE,GP1BA | c.537C>T (p.Leu179=) c.-888+1201G>A (n.-888+1201G>A) | gnomAD v4 |
| 17 | g.4933142C>A | CA397317178 | CHRNE,GP1BA | c.538C>A (p.Pro180Thr) c.-888+1200G>T (n.-888+1200G>T) | |
| 17 | g.4933142C= | CA2244625449 | CHRNE,GP1BA | c.538C= (p.Pro180=) c.-888+1200G= (n.-888+1200G=) | |
| 17 | g.4933142C>G | CA8314790 | CHRNE,GP1BA | c.538C>G (p.Pro180Ala) c.-888+1200G>C (n.-888+1200G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933142C>T | CA397317180 | CHRNE,GP1BA | c.538C>T (p.Pro180Ser) c.-888+1200G>A (n.-888+1200G>A) | |
| 17 | g.4933143C>A | CA397317184 | CHRNE,GP1BA | c.539C>A (p.Pro180His) c.-888+1199G>T (n.-888+1199G>T) | |
| 17 | g.4933143C= | CA2244625450 | CHRNE,GP1BA | c.539C= (p.Pro180=) c.-888+1199G= (n.-888+1199G=) | |
| 17 | g.4933143C>G | CA397317188 | CHRNE,GP1BA | c.539C>G (p.Pro180Arg) c.-888+1199G>C (n.-888+1199G>C) | |
| 17 | g.4933143C>T | CA397317190 | CHRNE,GP1BA | c.539C>T (p.Pro180Leu) c.-888+1199G>A (n.-888+1199G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933144C>A | CA497677582 | CHRNE,GP1BA | c.540C>A (p.Pro180=) c.-888+1198G>T (n.-888+1198G>T) | |
| 17 | g.4933144C= | CA2244625451 | CHRNE,GP1BA | c.540C= (p.Pro180=) c.-888+1198G= (n.-888+1198G=) | |
| 17 | g.4933144C>G | CA497677584 | CHRNE,GP1BA | c.540C>G (p.Pro180=) c.-888+1198G>C (n.-888+1198G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933144C>T | CA497677587 | CHRNE,GP1BA | c.540C>T (p.Pro180=) c.-888+1198G>A (n.-888+1198G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933145G>A | CA8314791 | CHRNE,GP1BA | c.541G>A (p.Ala181Thr) c.-888+1197C>T (n.-888+1197C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933145G>C | CA397317196 | CHRNE,GP1BA | c.541G>C (p.Ala181Pro) c.-888+1197C>G (n.-888+1197C>G) | gnomAD v4 |
| 17 | g.4933145G= | CA2244625452 | CHRNE,GP1BA | c.541G= (p.Ala181=) c.-888+1197C= (n.-888+1197C=) | |
| 17 | g.4933145G>T | CA397317200 | CHRNE,GP1BA | c.541G>T (p.Ala181Ser) c.-888+1197C>A (n.-888+1197C>A) | |
| 17 | g.4933146C>A | CA397317203 | CHRNE,GP1BA | c.542C>A (p.Ala181Asp) c.-888+1196G>T (n.-888+1196G>T) | |
| 17 | g.4933146C>G | CA397317207 | CHRNE,GP1BA | c.542C>G (p.Ala181Gly) c.-888+1196G>C (n.-888+1196G>C) | |
| 17 | g.4933146C>T | CA397317210 | CHRNE,GP1BA | c.542C>T (p.Ala181Val) c.-888+1196G>A (n.-888+1196G>A) | gnomAD v4 |
| 17 | g.4933147T>A | CA497677588 | CHRNE,GP1BA | c.543T>A (p.Ala181=) c.-888+1195A>T (n.-888+1195A>T) | |
| 17 | g.4933147T>C | CA497677589 | CHRNE,GP1BA | c.543T>C (p.Ala181=) c.-888+1195A>G (n.-888+1195A>G) | |
| 17 | g.4933147T>G | CA497677590 | CHRNE,GP1BA | c.543T>G (p.Ala181=) c.-888+1195A>C (n.-888+1195A>C) | |
| 17 | g.4933148G>A | CA397317226 | CHRNE,GP1BA | c.544G>A (p.Gly182Arg) c.-888+1194C>T (n.-888+1194C>T) | gnomAD v4 |
| 17 | g.4933148G>C | CA397317222 | CHRNE,GP1BA | c.544G>C (p.Gly182Arg) c.-888+1194C>G (n.-888+1194C>G) | |
| 17 | g.4933148G>T | CA397317219 | CHRNE,GP1BA | c.544G>T (p.Gly182Trp) c.-888+1194C>A (n.-888+1194C>A) | |
| 17 | g.4933149G>A | CA397317229 | CHRNE,GP1BA | c.545G>A (p.Gly182Glu) c.-888+1193C>T (n.-888+1193C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933149G>C | CA397317231 | CHRNE,GP1BA | c.545G>C (p.Gly182Ala) c.-888+1193C>G (n.-888+1193C>G) | |
| 17 | g.4933149G= | CA2244625453 | CHRNE,GP1BA | c.545G= (p.Gly182=) c.-888+1193C= (n.-888+1193C=) | |
| 17 | g.4933149G>T | CA397317234 | CHRNE,GP1BA | c.545G>T (p.Gly182Val) c.-888+1193C>A (n.-888+1193C>A) | |
| 17 | g.4933150G>A | CA497677593 | CHRNE,GP1BA | c.546G>A (p.Gly182=) c.-888+1192C>T (n.-888+1192C>T) | gnomAD v4 |
| 17 | g.4933150G>C | CA497677597 | CHRNE,GP1BA | c.546G>C (p.Gly182=) c.-888+1192C>G (n.-888+1192C>G) | |
| 17 | g.4933150G>T | CA497677595 | CHRNE,GP1BA | c.546G>T (p.Gly182=) c.-888+1192C>A (n.-888+1192C>A) | |
| 17 | g.4933151C>A | CA397317236 | CHRNE,GP1BA | c.547C>A (p.Leu183Ile) c.-888+1191G>T (n.-888+1191G>T) | |
| 17 | g.4933151C>G | CA397317239 | CHRNE,GP1BA | c.547C>G (p.Leu183Val) c.-888+1191G>C (n.-888+1191G>C) | |
| 17 | g.4933151C>T | CA397317240 | CHRNE,GP1BA | c.547C>T (p.Leu183Phe) c.-888+1191G>A (n.-888+1191G>A) | gnomAD v4 |
| 17 | g.4933152T>A | CA397317241 | CHRNE,GP1BA | c.548T>A (p.Leu183His) c.-888+1190A>T (n.-888+1190A>T) | |
| 17 | g.4933152T>C | CA397317242 | CHRNE,GP1BA | c.548T>C (p.Leu183Pro) c.-888+1190A>G (n.-888+1190A>G) | gnomAD v4 |
| 17 | g.4933152T>G | CA397317243 | CHRNE,GP1BA | c.548T>G (p.Leu183Arg) c.-888+1190A>C (n.-888+1190A>C) | |
| 17 | g.4933153C>A | CA497677600 | CHRNE,GP1BA | c.549C>A (p.Leu183=) c.-888+1189G>T (n.-888+1189G>T) | gnomAD v4 |
| 17 | g.4933153C>G | CA497677601 | CHRNE,GP1BA | c.549C>G (p.Leu183=) c.-888+1189G>C (n.-888+1189G>C) | |
| 17 | g.4933153C>T | CA497677602 | CHRNE,GP1BA | c.549C>T (p.Leu183=) c.-888+1189G>A (n.-888+1189G>A) | |
| 17 | g.4933154C>A | CA397317244 | CHRNE,GP1BA | c.550C>A (p.Leu184Met) c.-888+1188G>T (n.-888+1188G>T) | |
| 17 | g.4933154C>G | CA397317245 | CHRNE,GP1BA | c.550C>G (p.Leu184Val) c.-888+1188G>C (n.-888+1188G>C) | |
| 17 | g.4933154C>T | CA497677605 | CHRNE,GP1BA | c.550C>T (p.Leu184=) c.-888+1188G>A (n.-888+1188G>A) | |
| 17 | g.4933155T>A | CA397317247 | CHRNE,GP1BA | c.551T>A (p.Leu184Gln) c.-888+1187A>T (n.-888+1187A>T) | ClinVar dbSNP |
| 17 | g.4933155T>C | CA397317248 | CHRNE,GP1BA | c.551T>C (p.Leu184Pro) c.-888+1187A>G (n.-888+1187A>G) | |
| 17 | g.4933155T>G | CA397317250 | CHRNE,GP1BA | c.551T>G (p.Leu184Arg) c.-888+1187A>C (n.-888+1187A>C) | |
| 17 | g.4933156G>A | CA497677610 | CHRNE,GP1BA | c.552G>A (p.Leu184=) c.-888+1186C>T (n.-888+1186C>T) | |
| 17 | g.4933156G>C | CA8314792 | CHRNE,GP1BA | c.552G>C (p.Leu184=) c.-888+1186C>G (n.-888+1186C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933156G= | CA2244625454 | CHRNE,GP1BA | c.552G= (p.Leu184=) c.-888+1186C= (n.-888+1186C=) | |
| 17 | g.4933156G>T | CA497677611 | CHRNE,GP1BA | c.552G>T (p.Leu184=) c.-888+1186C>A (n.-888+1186C>A) | |
| 17 | g.4933157A>C | CA397317253 | CHRNE,GP1BA | c.553A>C (p.Asn185His) c.-888+1185T>G (n.-888+1185T>G) | |
| 17 | g.4933157A>G | CA397317254 | CHRNE,GP1BA | c.553A>G (p.Asn185Asp) c.-888+1185T>C (n.-888+1185T>C) | |
| 17 | g.4933157A>T | CA397317256 | CHRNE,GP1BA | c.553A>T (p.Asn185Tyr) c.-888+1185T>A (n.-888+1185T>A) | |
| 17 | g.4933158A= | CA2244625455 | CHRNE,GP1BA | c.554A= (p.Asn185=) c.-888+1184T= (n.-888+1184T=) | |
| 17 | g.4933158A>C | CA397317258 | CHRNE,GP1BA | c.554A>C (p.Asn185Thr) c.-888+1184T>G (n.-888+1184T>G) | |
| 17 | g.4933158A>G | CA397317260 | CHRNE,GP1BA | c.554A>G (p.Asn185Ser) c.-888+1184T>C (n.-888+1184T>C) | |
| 17 | g.4933158A>T | CA8314793 | CHRNE,GP1BA | c.554A>T (p.Asn185Ile) c.-888+1184T>A (n.-888+1184T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933159_4933194del | CA2695224147 | CHRNE,GP1BA | c.555_590del (p.Asn185_Glu197delinsLys) c.-888+1149_-888+1184del (n.-888+1149_-888+1184del) | ClinVar dbSNP |
| 17 | g.4933159T>A | CA397317263 | CHRNE,GP1BA | c.555T>A (p.Asn185Lys) c.-888+1183A>T (n.-888+1183A>T) | |
| 17 | g.4933159T>C | CA497677616 | CHRNE,GP1BA | c.555T>C (p.Asn185=) c.-888+1183A>G (n.-888+1183A>G) | dbSNP gnomAD v4 |
| 17 | g.4933159T>G | CA397317272 | CHRNE,GP1BA | c.555T>G (p.Asn185Lys) c.-888+1183A>C (n.-888+1183A>C) | |
| 17 | g.4933159T= | CA2244625456 | CHRNE,GP1BA | c.555T= (p.Asn185=) c.-888+1183A= (n.-888+1183A=) | |
| 17 | g.4933160G>A | CA397317276 | CHRNE,GP1BA | c.556G>A (p.Gly186Arg) c.-888+1182C>T (n.-888+1182C>T) | |
| 17 | g.4933160G>C | CA397317281 | CHRNE,GP1BA | c.556G>C (p.Gly186Arg) c.-888+1182C>G (n.-888+1182C>G) | |
| 17 | g.4933160G>T | CA397317289 | CHRNE,GP1BA | c.556G>T (p.Gly186Trp) c.-888+1182C>A (n.-888+1182C>A) | |
| 17 | g.4933161G>A | CA8314794 | CHRNE,GP1BA | c.557G>A (p.Gly186Glu) c.-888+1181C>T (n.-888+1181C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933161G>C | CA397317293 | CHRNE,GP1BA | c.557G>C (p.Gly186Ala) c.-888+1181C>G (n.-888+1181C>G) | gnomAD v4 |
| 17 | g.4933161G= | CA2244625457 | CHRNE,GP1BA | c.557G= (p.Gly186=) c.-888+1181C= (n.-888+1181C=) | |
| 17 | g.4933161G>T | CA397317296 | CHRNE,GP1BA | c.557G>T (p.Gly186Val) c.-888+1181C>A (n.-888+1181C>A) | |
| 17 | g.4933162G>A | CA497677620 | CHRNE,GP1BA | c.558G>A (p.Gly186=) c.-888+1180C>T (n.-888+1180C>T) | |
| 17 | g.4933162G>C | CA497677621 | CHRNE,GP1BA | c.558G>C (p.Gly186=) c.-888+1180C>G (n.-888+1180C>G) | |
| 17 | g.4933162G>T | CA497677623 | CHRNE,GP1BA | c.558G>T (p.Gly186=) c.-888+1180C>A (n.-888+1180C>A) | |
| 17 | g.4933163C>A | CA397317306 | CHRNE,GP1BA | c.559C>A (p.Leu187Met) c.-888+1179G>T (n.-888+1179G>T) | |
| 17 | g.4933163C>G | CA397317304 | CHRNE,GP1BA | c.559C>G (p.Leu187Val) c.-888+1179G>C (n.-888+1179G>C) | |
| 17 | g.4933163C>T | CA497677624 | CHRNE,GP1BA | c.559C>T (p.Leu187=) c.-888+1179G>A (n.-888+1179G>A) | |
| 17 | g.4933164T>A | CA397317310 | CHRNE,GP1BA | c.560T>A (p.Leu187Gln) c.-888+1178A>T (n.-888+1178A>T) | |
| 17 | g.4933164T>C | CA397317322 | CHRNE,GP1BA | c.560T>C (p.Leu187Pro) c.-888+1178A>G (n.-888+1178A>G) | |
| 17 | g.4933164T>G | CA397317313 | CHRNE,GP1BA | c.560T>G (p.Leu187Arg) c.-888+1178A>C (n.-888+1178A>C) | |
| 17 | g.4933165G>A | CA497677630 | CHRNE,GP1BA | c.561G>A (p.Leu187=) c.-888+1177C>T (n.-888+1177C>T) | |
| 17 | g.4933165G>C | CA497677631 | CHRNE,GP1BA | c.561G>C (p.Leu187=) c.-888+1177C>G (n.-888+1177C>G) | |
| 17 | g.4933165G>T | CA497677633 | CHRNE,GP1BA | c.561G>T (p.Leu187=) c.-888+1177C>A (n.-888+1177C>A) | |
| 17 | g.4933166G>A | CA397317327 | CHRNE,GP1BA | c.562G>A (p.Glu188Lys) c.-888+1176C>T (n.-888+1176C>T) | |
| 17 | g.4933166G>C | CA397317331 | CHRNE,GP1BA | c.562G>C (p.Glu188Gln) c.-888+1176C>G (n.-888+1176C>G) | |
| 17 | g.4933166G>T | CA397317328 | CHRNE,GP1BA | c.562G>T (p.Glu188Ter) c.-888+1176C>A (n.-888+1176C>A) | |
| 17 | g.4933167A>C | CA397317337 | CHRNE,GP1BA | c.563A>C (p.Glu188Ala) c.-888+1175T>G (n.-888+1175T>G) | |
| 17 | g.4933167A>G | CA397317341 | CHRNE,GP1BA | c.563A>G (p.Glu188Gly) c.-888+1175T>C (n.-888+1175T>C) | |
| 17 | g.4933167A>T | CA397317339 | CHRNE,GP1BA | c.563A>T (p.Glu188Val) c.-888+1175T>A (n.-888+1175T>A) | |
| 17 | g.4933168G>A | CA8314795 | CHRNE,GP1BA | c.564G>A (p.Glu188=) c.-888+1174C>T (n.-888+1174C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933168G>C | CA397317355 | CHRNE,GP1BA | c.564G>C (p.Glu188Asp) c.-888+1174C>G (n.-888+1174C>G) | |
| 17 | g.4933168G= | CA2244625458 | CHRNE,GP1BA | c.564G= (p.Glu188=) c.-888+1174C= (n.-888+1174C=) | |
| 17 | g.4933168G>T | CA397317347 | CHRNE,GP1BA | c.564G>T (p.Glu188Asp) c.-888+1174C>A (n.-888+1174C>A) | |
| 17 | g.4933169A>C | CA397317356 | CHRNE,GP1BA | c.565A>C (p.Asn189His) c.-888+1173T>G (n.-888+1173T>G) | |
| 17 | g.4933169A>G | CA397317360 | CHRNE,GP1BA | c.565A>G (p.Asn189Asp) c.-888+1173T>C (n.-888+1173T>C) | |
| 17 | g.4933169A>T | CA397317364 | CHRNE,GP1BA | c.565A>T (p.Asn189Tyr) c.-888+1173T>A (n.-888+1173T>A) | |
| 17 | g.4933170A>C | CA397317367 | CHRNE,GP1BA | c.566A>C (p.Asn189Thr) c.-888+1172T>G (n.-888+1172T>G) | |
| 17 | g.4933170A>G | CA397317369 | CHRNE,GP1BA | c.566A>G (p.Asn189Ser) c.-888+1172T>C (n.-888+1172T>C) | |
| 17 | g.4933170A>T | CA397317372 | CHRNE,GP1BA | c.566A>T (p.Asn189Ile) c.-888+1172T>A (n.-888+1172T>A) | gnomAD v4 |
| 17 | g.4933171T>A | CA397317373 | CHRNE,GP1BA | c.567T>A (p.Asn189Lys) c.-888+1171A>T (n.-888+1171A>T) | gnomAD v4 |
| 17 | g.4933171T>C | CA497677640 | CHRNE,GP1BA | c.567T>C (p.Asn189=) c.-888+1171A>G (n.-888+1171A>G) | |
| 17 | g.4933171T>G | CA397317376 | CHRNE,GP1BA | c.567T>G (p.Asn189Lys) c.-888+1171A>C (n.-888+1171A>C) | |
| 17 | g.4933172C>A | CA397317380 | CHRNE,GP1BA | c.568C>A (p.Leu190Ile) c.-888+1170G>T (n.-888+1170G>T) | |
| 17 | g.4933172C>G | CA397317383 | CHRNE,GP1BA | c.568C>G (p.Leu190Val) c.-888+1170G>C (n.-888+1170G>C) | |
| 17 | g.4933172C>T | CA397317384 | CHRNE,GP1BA | c.568C>T (p.Leu190Phe) c.-888+1170G>A (n.-888+1170G>A) | gnomAD v4 |
| 17 | g.4933173T>A | CA397317388 | CHRNE,GP1BA | c.569T>A (p.Leu190His) c.-888+1169A>T (n.-888+1169A>T) | |
| 17 | g.4933173T>C | CA397317394 | CHRNE,GP1BA | c.569T>C (p.Leu190Pro) c.-888+1169A>G (n.-888+1169A>G) | |
| 17 | g.4933173T>G | CA397317391 | CHRNE,GP1BA | c.569T>G (p.Leu190Arg) c.-888+1169A>C (n.-888+1169A>C) | |
| 17 | g.4933174C>A | CA497677647 | CHRNE,GP1BA | c.570C>A (p.Leu190=) c.-888+1168G>T (n.-888+1168G>T) | gnomAD v4 |
| 17 | g.4933174C= | CA2244625459 | CHRNE,GP1BA | c.570C= (p.Leu190=) c.-888+1168G= (n.-888+1168G=) | |
| 17 | g.4933174C>G | CA497677650 | CHRNE,GP1BA | c.570C>G (p.Leu190=) c.-888+1168G>C (n.-888+1168G>C) | |
| 17 | g.4933174C>T | CA8314796 | CHRNE,GP1BA | c.570C>T (p.Leu190=) c.-888+1168G>A (n.-888+1168G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |