Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.47937212del | CA2761332300 | CNGA1,NIPAL1 | c.1272del (p.Asp425IlefsTer26) c.1284del (p.Asp429IlefsTer26) c.1491del (p.Asp498IlefsTer26) n.479-21812del n.563+22508del c.1509del (p.Asp504IlefsTer26) | |
4 | g.47937211T>A | CA356826256 | CNGA1,NIPAL1 | c.1271A>T (p.Lys424Ile) c.1283A>T (p.Lys428Ile) c.1490A>T (p.Lys497Ile) n.479-21813T>A n.563+22507T>A c.1508A>T (p.Lys503Ile) | COSMIC |
4 | g.47937211T>C | CA356826259 | CNGA1,NIPAL1 | c.1271A>G (p.Lys424Arg) c.1283A>G (p.Lys428Arg) c.1490A>G (p.Lys497Arg) n.479-21813T>C n.563+22507T>C c.1508A>G (p.Lys503Arg) | |
4 | g.47937211T>G | CA356826262 | CNGA1,NIPAL1 | c.1271A>C (p.Lys424Thr) c.1283A>C (p.Lys428Thr) c.1490A>C (p.Lys497Thr) n.479-21813T>G n.563+22507T>G c.1508A>C (p.Lys503Thr) | |
4 | g.47937212T>A | CA356826265 | CNGA1,NIPAL1 | c.1270A>T (p.Lys424Ter) c.1282A>T (p.Lys428Ter) c.1489A>T (p.Lys497Ter) n.479-21812T>A n.563+22508T>A c.1507A>T (p.Lys503Ter) | |
4 | g.47937212T>C | CA356826268 | CNGA1,NIPAL1 | c.1270A>G (p.Lys424Glu) c.1282A>G (p.Lys428Glu) c.1489A>G (p.Lys497Glu) n.479-21812T>C n.563+22508T>C c.1507A>G (p.Lys503Glu) | |
4 | g.47937212T>G | CA356826271 | CNGA1,NIPAL1 | c.1270A>C (p.Lys424Gln) c.1282A>C (p.Lys428Gln) c.1489A>C (p.Lys497Gln) n.479-21812T>G n.563+22508T>G c.1507A>C (p.Lys503Gln) | |
4 | g.47937213G>A | CA439404138 | CNGA1,NIPAL1 | c.1269C>T (p.Ser423=) c.1281C>T (p.Ser427=) c.1488C>T (p.Ser496=) n.479-21811G>A n.563+22509G>A c.1506C>T (p.Ser502=) | |
4 | g.47937213G>C | CA356826276 | CNGA1,NIPAL1 | c.1269C>G (p.Ser423Arg) c.1281C>G (p.Ser427Arg) c.1488C>G (p.Ser496Arg) n.479-21811G>C n.563+22509G>C c.1506C>G (p.Ser502Arg) | |
4 | g.47937213G>T | CA356826275 | CNGA1,NIPAL1 | c.1269C>A (p.Ser423Arg) c.1281C>A (p.Ser427Arg) c.1488C>A (p.Ser496Arg) n.479-21811G>T n.563+22509G>T c.1506C>A (p.Ser502Arg) | |
4 | g.47937214C>A | CA356826279 | CNGA1,NIPAL1 | c.1268G>T (p.Ser423Ile) c.1280G>T (p.Ser427Ile) c.1487G>T (p.Ser496Ile) n.479-21810C>A n.563+22510C>A c.1505G>T (p.Ser502Ile) | |
4 | g.47937214C>G | CA356826281 | CNGA1,NIPAL1 | c.1268G>C (p.Ser423Thr) c.1280G>C (p.Ser427Thr) c.1487G>C (p.Ser496Thr) n.479-21810C>G n.563+22510C>G c.1505G>C (p.Ser502Thr) | |
4 | g.47937214C>T | CA356826282 | CNGA1,NIPAL1 | c.1268G>A (p.Ser423Asn) c.1280G>A (p.Ser427Asn) c.1487G>A (p.Ser496Asn) n.479-21810C>T n.563+22510C>T c.1505G>A (p.Ser502Asn) | |
4 | g.47937215T>A | CA356826285 | CNGA1,NIPAL1 | c.1267A>T (p.Ser423Cys) c.1279A>T (p.Ser427Cys) c.1486A>T (p.Ser496Cys) n.479-21809T>A n.563+22511T>A c.1504A>T (p.Ser502Cys) | |
4 | g.47937215T>C | CA356826287 | CNGA1,NIPAL1 | c.1267A>G (p.Ser423Gly) c.1279A>G (p.Ser427Gly) c.1486A>G (p.Ser496Gly) n.479-21809T>C n.563+22511T>C c.1504A>G (p.Ser502Gly) | |
4 | g.47937215T>G | CA356826288 | CNGA1,NIPAL1 | c.1267A>C (p.Ser423Arg) c.1279A>C (p.Ser427Arg) c.1486A>C (p.Ser496Arg) n.479-21809T>G n.563+22511T>G c.1504A>C (p.Ser502Arg) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47937215T= | CA1455551883 | CNGA1,NIPAL1 | c.1267A= (p.Ser423=) c.1279A= (p.Ser427=) c.1486A= (p.Ser496=) n.479-21809T= n.563+22511T= c.1504A= (p.Ser502=) | |
4 | g.47937216T>A | CA439404142 | CNGA1,NIPAL1 | c.1266A>T (p.Val422=) c.1278A>T (p.Val426=) c.1485A>T (p.Val495=) n.479-21808T>A n.563+22512T>A c.1503A>T (p.Val501=) | |
4 | g.47937216T>C | CA439404143 | CNGA1,NIPAL1 | c.1266A>G (p.Val422=) c.1278A>G (p.Val426=) c.1485A>G (p.Val495=) n.479-21808T>C n.563+22512T>C c.1503A>G (p.Val501=) | |
4 | g.47937216T>G | CA439404146 | CNGA1,NIPAL1 | c.1266A>C (p.Val422=) c.1278A>C (p.Val426=) c.1485A>C (p.Val495=) n.479-21808T>G n.563+22512T>G c.1503A>C (p.Val501=) | |
4 | g.47937217A>C | CA356826294 | CNGA1,NIPAL1 | c.1265T>G (p.Val422Gly) c.1277T>G (p.Val426Gly) c.1484T>G (p.Val495Gly) n.479-21807A>C n.563+22513A>C c.1502T>G (p.Val501Gly) | |
4 | g.47937217A>G | CA356826292 | CNGA1,NIPAL1 | c.1265T>C (p.Val422Ala) c.1277T>C (p.Val426Ala) c.1484T>C (p.Val495Ala) n.479-21807A>G n.563+22513A>G c.1502T>C (p.Val501Ala) | |
4 | g.47937217A>T | CA356826293 | CNGA1,NIPAL1 | c.1265T>A (p.Val422Glu) c.1277T>A (p.Val426Glu) c.1484T>A (p.Val495Glu) n.479-21807A>T n.563+22513A>T c.1502T>A (p.Val501Glu) | |
4 | g.47937218C>A | CA356826297 | CNGA1,NIPAL1 | c.1264G>T (p.Val422Leu) c.1276G>T (p.Val426Leu) c.1483G>T (p.Val495Leu) n.479-21806C>A n.563+22514C>A c.1501G>T (p.Val501Leu) | |
4 | g.47937218C>G | CA356826298 | CNGA1,NIPAL1 | c.1264G>C (p.Val422Leu) c.1276G>C (p.Val426Leu) c.1483G>C (p.Val495Leu) n.479-21806C>G n.563+22514C>G c.1501G>C (p.Val501Leu) | |
4 | g.47937218C>T | CA356826301 | CNGA1,NIPAL1 | c.1264G>A (p.Val422Ile) c.1276G>A (p.Val426Ile) c.1483G>A (p.Val495Ile) n.479-21806C>T n.563+22514C>T c.1501G>A (p.Val501Ile) | |
4 | g.47937219A= | CA1455551884 | CNGA1,NIPAL1 | c.1263T= (p.Asn421=) c.1275T= (p.Asn425=) c.1482T= (p.Asn494=) n.479-21805A= n.563+22515A= c.1500T= (p.Asn500=) | |
4 | g.47937219A>C | CA356826303 | CNGA1,NIPAL1 | c.1263T>G (p.Asn421Lys) c.1275T>G (p.Asn425Lys) c.1482T>G (p.Asn494Lys) n.479-21805A>C n.563+22515A>C c.1500T>G (p.Asn500Lys) | |
4 | g.47937219A>G | CA439404148 | CNGA1,NIPAL1 | c.1263T>C (p.Asn421=) c.1275T>C (p.Asn425=) c.1482T>C (p.Asn494=) n.479-21805A>G n.563+22515A>G c.1500T>C (p.Asn500=) | dbSNP |
4 | g.47937219A>T | CA356826305 | CNGA1,NIPAL1 | c.1263T>A (p.Asn421Lys) c.1275T>A (p.Asn425Lys) c.1482T>A (p.Asn494Lys) n.479-21805A>T n.563+22515A>T c.1500T>A (p.Asn500Lys) | |
4 | g.47937220T>A | CA356826308 | CNGA1,NIPAL1 | c.1262A>T (p.Asn421Ile) c.1274A>T (p.Asn425Ile) c.1481A>T (p.Asn494Ile) n.479-21804T>A n.563+22516T>A c.1499A>T (p.Asn500Ile) | |
4 | g.47937220T>C | CA356826311 | CNGA1,NIPAL1 | c.1262A>G (p.Asn421Ser) c.1274A>G (p.Asn425Ser) c.1481A>G (p.Asn494Ser) n.479-21804T>C n.563+22516T>C c.1499A>G (p.Asn500Ser) | |
4 | g.47937220T>G | CA356826312 | CNGA1,NIPAL1 | c.1262A>C (p.Asn421Thr) c.1274A>C (p.Asn425Thr) c.1481A>C (p.Asn494Thr) n.479-21804T>G n.563+22516T>G c.1499A>C (p.Asn500Thr) | |
4 | g.47937221T>A | CA356826315 | CNGA1,NIPAL1 | c.1261A>T (p.Asn421Tyr) c.1273A>T (p.Asn425Tyr) c.1480A>T (p.Asn494Tyr) n.479-21803T>A n.563+22517T>A c.1498A>T (p.Asn500Tyr) | |
4 | g.47937221T>C | CA356826317 | CNGA1,NIPAL1 | c.1261A>G (p.Asn421Asp) c.1273A>G (p.Asn425Asp) c.1480A>G (p.Asn494Asp) n.479-21803T>C n.563+22517T>C c.1498A>G (p.Asn500Asp) | |
4 | g.47937221T>G | CA356826319 | CNGA1,NIPAL1 | c.1261A>C (p.Asn421His) c.1273A>C (p.Asn425His) c.1480A>C (p.Asn494His) n.479-21803T>G n.563+22517T>G c.1498A>C (p.Asn500His) | |
4 | g.47937222T>A | CA439404152 | CNGA1,NIPAL1 | c.1260A>T (p.Arg420=) c.1272A>T (p.Arg424=) c.1479A>T (p.Arg493=) n.479-21802T>A n.563+22518T>A c.1497A>T (p.Arg499=) | |
4 | g.47937222T>C | CA439404153 | CNGA1,NIPAL1 | c.1260A>G (p.Arg420=) c.1272A>G (p.Arg424=) c.1479A>G (p.Arg493=) n.479-21802T>C n.563+22518T>C c.1497A>G (p.Arg499=) | |
4 | g.47937222T>G | CA439404154 | CNGA1,NIPAL1 | c.1260A>C (p.Arg420=) c.1272A>C (p.Arg424=) c.1479A>C (p.Arg493=) n.479-21802T>G n.563+22518T>G c.1497A>C (p.Arg499=) | |
4 | g.47937223C>A | CA356826323 | CNGA1,NIPAL1 | c.1259G>T (p.Arg420Leu) c.1271G>T (p.Arg424Leu) c.1478G>T (p.Arg493Leu) n.479-21801C>A n.563+22519C>A c.1496G>T (p.Arg499Leu) | dbSNP gnomAD v4 |
4 | g.47937223C= | CA1455551885 | CNGA1,NIPAL1 | c.1259G= (p.Arg420=) c.1271G= (p.Arg424=) c.1478G= (p.Arg493=) n.479-21801C= n.563+22519C= c.1496G= (p.Arg499=) | |
4 | g.47937223C>G | CA356826324 | CNGA1,NIPAL1 | c.1259G>C (p.Arg420Pro) c.1271G>C (p.Arg424Pro) c.1478G>C (p.Arg493Pro) n.479-21801C>G n.563+22519C>G c.1496G>C (p.Arg499Pro) | |
4 | g.47937223C>T | CA2911106 | CNGA1,NIPAL1 | c.1259G>A (p.Arg420Gln) c.1271G>A (p.Arg424Gln) c.1478G>A (p.Arg493Gln) n.479-21801C>T n.563+22519C>T c.1496G>A (p.Arg499Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.47937224G>A | CA2911107 | CNGA1,NIPAL1 | c.1258C>T (p.Arg420Ter) c.1270C>T (p.Arg424Ter) c.1477C>T (p.Arg493Ter) n.479-21800G>A n.563+22520G>A c.1495C>T (p.Arg499Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.47937224G>C | CA356826328 | CNGA1,NIPAL1 | c.1258C>G (p.Arg420Gly) c.1270C>G (p.Arg424Gly) c.1477C>G (p.Arg493Gly) n.479-21800G>C n.563+22520G>C c.1495C>G (p.Arg499Gly) | |
4 | g.47937224G= | CA1455551886 | CNGA1,NIPAL1 | c.1258C= (p.Arg420=) c.1270C= (p.Arg424=) c.1477C= (p.Arg493=) n.479-21800G= n.563+22520G= c.1495C= (p.Arg499=) | |
4 | g.47937224G>T | CA439404155 | CNGA1,NIPAL1 | c.1258C>A (p.Arg420=) c.1270C>A (p.Arg424=) c.1477C>A (p.Arg493=) n.479-21800G>T n.563+22520G>T c.1495C>A (p.Arg499=) | |
4 | g.47937225A>C | CA356826333 | CNGA1,NIPAL1 | c.1257T>G (p.Phe419Leu) c.1269T>G (p.Phe423Leu) c.1476T>G (p.Phe492Leu) n.479-21799A>C n.563+22521A>C c.1494T>G (p.Phe498Leu) | |
4 | g.47937225A>G | CA439404156 | CNGA1,NIPAL1 | c.1257T>C (p.Phe419=) c.1269T>C (p.Phe423=) c.1476T>C (p.Phe492=) n.479-21799A>G n.563+22521A>G c.1494T>C (p.Phe498=) | |
4 | g.47937225A>T | CA356826335 | CNGA1,NIPAL1 | c.1257T>A (p.Phe419Leu) c.1269T>A (p.Phe423Leu) c.1476T>A (p.Phe492Leu) n.479-21799A>T n.563+22521A>T c.1494T>A (p.Phe498Leu) | |
4 | g.47937226A>C | CA356826338 | CNGA1,NIPAL1 | c.1256T>G (p.Phe419Cys) c.1268T>G (p.Phe423Cys) c.1475T>G (p.Phe492Cys) n.479-21798A>C n.563+22522A>C c.1493T>G (p.Phe498Cys) | |
4 | g.47937226A>G | CA356826340 | CNGA1,NIPAL1 | c.1256T>C (p.Phe419Ser) c.1268T>C (p.Phe423Ser) c.1475T>C (p.Phe492Ser) n.479-21798A>G n.563+22522A>G c.1493T>C (p.Phe498Ser) | |
4 | g.47937226A>T | CA356826342 | CNGA1,NIPAL1 | c.1256T>A (p.Phe419Tyr) c.1268T>A (p.Phe423Tyr) c.1475T>A (p.Phe492Tyr) n.479-21798A>T n.563+22522A>T c.1493T>A (p.Phe498Tyr) | |
4 | g.47937227A>C | CA356826345 | CNGA1,NIPAL1 | c.1255T>G (p.Phe419Val) c.1267T>G (p.Phe423Val) c.1474T>G (p.Phe492Val) n.479-21797A>C n.563+22523A>C c.1492T>G (p.Phe498Val) | |
4 | g.47937227A>G | CA356826347 | CNGA1,NIPAL1 | c.1255T>C (p.Phe419Leu) c.1267T>C (p.Phe423Leu) c.1474T>C (p.Phe492Leu) n.479-21797A>G n.563+22523A>G c.1492T>C (p.Phe498Leu) | COSMIC |
4 | g.47937227A>T | CA356826349 | CNGA1,NIPAL1 | c.1255T>A (p.Phe419Ile) c.1267T>A (p.Phe423Ile) c.1474T>A (p.Phe492Ile) n.479-21797A>T n.563+22523A>T c.1492T>A (p.Phe498Ile) | |
4 | g.47937227_47937240del | CA2499217220 | CNGA1,NIPAL1 | c.1242_1255del (p.Lys414AsnfsTer14) c.1254_1267del (p.Lys418AsnfsTer14) c.1461_1474del (p.Lys487AsnfsTer14) n.479-21797_479-21784del n.563+22523_563+22536del c.1479_1492del (p.Lys493AsnfsTer14) | ClinVar dbSNP |
4 | g.47937228A>C | CA356826351 | CNGA1,NIPAL1 | c.1254T>G (p.His418Gln) c.1266T>G (p.His422Gln) c.1473T>G (p.His491Gln) n.479-21796A>C n.563+22524A>C c.1491T>G (p.His497Gln) | |
4 | g.47937228A>G | CA439404159 | CNGA1,NIPAL1 | c.1254T>C (p.His418=) c.1266T>C (p.His422=) c.1473T>C (p.His491=) n.479-21796A>G n.563+22524A>G c.1491T>C (p.His497=) | |
4 | g.47937228A>T | CA356826353 | CNGA1,NIPAL1 | c.1254T>A (p.His418Gln) c.1266T>A (p.His422Gln) c.1473T>A (p.His491Gln) n.479-21796A>T n.563+22524A>T c.1491T>A (p.His497Gln) | |
4 | g.47937229T>A | CA356826356 | CNGA1,NIPAL1 | c.1253A>T (p.His418Leu) c.1265A>T (p.His422Leu) c.1472A>T (p.His491Leu) n.479-21795T>A n.563+22525T>A c.1490A>T (p.His497Leu) | |
4 | g.47937229T>C | CA356826357 | CNGA1,NIPAL1 | c.1253A>G (p.His418Arg) c.1265A>G (p.His422Arg) c.1472A>G (p.His491Arg) n.479-21795T>C n.563+22525T>C c.1490A>G (p.His497Arg) | |
4 | g.47937229T>G | CA356826360 | CNGA1,NIPAL1 | c.1253A>C (p.His418Pro) c.1265A>C (p.His422Pro) c.1472A>C (p.His491Pro) n.479-21795T>G n.563+22525T>G c.1490A>C (p.His497Pro) | |
4 | g.47937230G>A | CA356826362 | CNGA1,NIPAL1 | c.1252C>T (p.His418Tyr) c.1264C>T (p.His422Tyr) c.1471C>T (p.His491Tyr) n.479-21794G>A n.563+22526G>A c.1489C>T (p.His497Tyr) | |
4 | g.47937230G>C | CA356826365 | CNGA1,NIPAL1 | c.1252C>G (p.His418Asp) c.1264C>G (p.His422Asp) c.1471C>G (p.His491Asp) n.479-21794G>C n.563+22526G>C c.1489C>G (p.His497Asp) | |
4 | g.47937230G>T | CA356826364 | CNGA1,NIPAL1 | c.1252C>A (p.His418Asn) c.1264C>A (p.His422Asn) c.1471C>A (p.His491Asn) n.479-21794G>T n.563+22526G>T c.1489C>A (p.His497Asn) | |
4 | g.47937231C>A | CA356826369 | CNGA1,NIPAL1 | c.1251G>T (p.Met417Ile) c.1263G>T (p.Met421Ile) c.1470G>T (p.Met490Ile) n.479-21793C>A n.563+22527C>A c.1488G>T (p.Met496Ile) | |
4 | g.47937231C>G | CA356826372 | CNGA1,NIPAL1 | c.1251G>C (p.Met417Ile) c.1263G>C (p.Met421Ile) c.1470G>C (p.Met490Ile) n.479-21793C>G n.563+22527C>G c.1488G>C (p.Met496Ile) | |
4 | g.47937231C>T | CA356826370 | CNGA1,NIPAL1 | c.1251G>A (p.Met417Ile) c.1263G>A (p.Met421Ile) c.1470G>A (p.Met490Ile) n.479-21793C>T n.563+22527C>T c.1488G>A (p.Met496Ile) | |
4 | g.47937232A= | CA1455551887 | CNGA1,NIPAL1 | c.1250T= (p.Met417=) c.1262T= (p.Met421=) c.1469T= (p.Met490=) n.479-21792A= n.563+22528A= c.1487T= (p.Met496=) | |
4 | g.47937232A>C | CA356826375 | CNGA1,NIPAL1 | c.1250T>G (p.Met417Arg) c.1262T>G (p.Met421Arg) c.1469T>G (p.Met490Arg) n.479-21792A>C n.563+22528A>C c.1487T>G (p.Met496Arg) | |
4 | g.47937232A>G | CA96688843 | CNGA1,NIPAL1 | c.1250T>C (p.Met417Thr) c.1262T>C (p.Met421Thr) c.1469T>C (p.Met490Thr) n.479-21792A>G n.563+22528A>G c.1487T>C (p.Met496Thr) | dbSNP gnomAD v4 |
4 | g.47937232A>T | CA356826378 | CNGA1,NIPAL1 | c.1250T>A (p.Met417Lys) c.1262T>A (p.Met421Lys) c.1469T>A (p.Met490Lys) n.479-21792A>T n.563+22528A>T c.1487T>A (p.Met496Lys) | |
4 | g.47937233T>A | CA356826380 | CNGA1,NIPAL1 | c.1249A>T (p.Met417Leu) c.1261A>T (p.Met421Leu) c.1468A>T (p.Met490Leu) n.479-21791T>A n.563+22529T>A c.1486A>T (p.Met496Leu) | |
4 | g.47937233T>C | CA356826381 | CNGA1,NIPAL1 | c.1249A>G (p.Met417Val) c.1261A>G (p.Met421Val) c.1468A>G (p.Met490Val) n.479-21791T>C n.563+22529T>C c.1486A>G (p.Met496Val) | |
4 | g.47937233T>G | CA356826383 | CNGA1,NIPAL1 | c.1249A>C (p.Met417Leu) c.1261A>C (p.Met421Leu) c.1468A>C (p.Met490Leu) n.479-21791T>G n.563+22529T>G c.1486A>C (p.Met496Leu) | gnomAD v4 |
4 | g.47937234A= | CA1455551888 | CNGA1,NIPAL1 | c.1248T= (p.Tyr416=) c.1260T= (p.Tyr420=) c.1467T= (p.Tyr489=) n.479-21790A= n.563+22530A= c.1485T= (p.Tyr495=) | |
4 | g.47937234A>C | CA356826385 | CNGA1,NIPAL1 | c.1248T>G (p.Tyr416Ter) c.1260T>G (p.Tyr420Ter) c.1467T>G (p.Tyr489Ter) n.479-21790A>C n.563+22530A>C c.1485T>G (p.Tyr495Ter) | |
4 | g.47937234A>G | CA439404171 | CNGA1,NIPAL1 | c.1248T>C (p.Tyr416=) c.1260T>C (p.Tyr420=) c.1467T>C (p.Tyr489=) n.479-21790A>G n.563+22530A>G c.1485T>C (p.Tyr495=) | ClinVar dbSNP gnomAD v4 |
4 | g.47937234A>T | CA356826387 | CNGA1,NIPAL1 | c.1248T>A (p.Tyr416Ter) c.1260T>A (p.Tyr420Ter) c.1467T>A (p.Tyr489Ter) n.479-21790A>T n.563+22530A>T c.1485T>A (p.Tyr495Ter) | |
4 | g.47937235T>A | CA356826390 | CNGA1,NIPAL1 | c.1247A>T (p.Tyr416Phe) c.1259A>T (p.Tyr420Phe) c.1466A>T (p.Tyr489Phe) n.479-21789T>A n.563+22531T>A c.1484A>T (p.Tyr495Phe) | |
4 | g.47937235T>C | CA356826393 | CNGA1,NIPAL1 | c.1247A>G (p.Tyr416Cys) c.1259A>G (p.Tyr420Cys) c.1466A>G (p.Tyr489Cys) n.479-21789T>C n.563+22531T>C c.1484A>G (p.Tyr495Cys) | |
4 | g.47937235T>G | CA356826395 | CNGA1,NIPAL1 | c.1247A>C (p.Tyr416Ser) c.1259A>C (p.Tyr420Ser) c.1466A>C (p.Tyr489Ser) n.479-21789T>G n.563+22531T>G c.1484A>C (p.Tyr495Ser) | |
4 | g.47937236A= | CA1455551889 | CNGA1,NIPAL1 | c.1246T= (p.Tyr416=) c.1258T= (p.Tyr420=) c.1465T= (p.Tyr489=) n.479-21788A= n.563+22532A= c.1483T= (p.Tyr495=) | |
4 | g.47937236A>C | CA356826401 | CNGA1,NIPAL1 | c.1246T>G (p.Tyr416Asp) c.1258T>G (p.Tyr420Asp) c.1465T>G (p.Tyr489Asp) n.479-21788A>C n.563+22532A>C c.1483T>G (p.Tyr495Asp) | |
4 | g.47937236A>G | CA356826398 | CNGA1,NIPAL1 | c.1246T>C (p.Tyr416His) c.1258T>C (p.Tyr420His) c.1465T>C (p.Tyr489His) n.479-21788A>G n.563+22532A>G c.1483T>C (p.Tyr495His) | dbSNP |
4 | g.47937236A>T | CA356826400 | CNGA1,NIPAL1 | c.1246T>A (p.Tyr416Asn) c.1258T>A (p.Tyr420Asn) c.1465T>A (p.Tyr489Asn) n.479-21788A>T n.563+22532A>T c.1483T>A (p.Tyr495Asn) | |
4 | g.47937237T>A | CA356826404 | CNGA1,NIPAL1 | c.1245A>T (p.Gln415His) c.1257A>T (p.Gln419His) c.1464A>T (p.Gln488His) n.479-21787T>A n.563+22533T>A c.1482A>T (p.Gln494His) | |
4 | g.47937237T>C | CA439404173 | CNGA1,NIPAL1 | c.1245A>G (p.Gln415=) c.1257A>G (p.Gln419=) c.1464A>G (p.Gln488=) n.479-21787T>C n.563+22533T>C c.1482A>G (p.Gln494=) | |
4 | g.47937237T>G | CA356826406 | CNGA1,NIPAL1 | c.1245A>C (p.Gln415His) c.1257A>C (p.Gln419His) c.1464A>C (p.Gln488His) n.479-21787T>G n.563+22533T>G c.1482A>C (p.Gln494His) | |
4 | g.47937238T>A | CA356826408 | CNGA1,NIPAL1 | c.1244A>T (p.Gln415Leu) c.1256A>T (p.Gln419Leu) c.1463A>T (p.Gln488Leu) n.479-21786T>A n.563+22534T>A c.1481A>T (p.Gln494Leu) | |
4 | g.47937238T>C | CA356826410 | CNGA1,NIPAL1 | c.1244A>G (p.Gln415Arg) c.1256A>G (p.Gln419Arg) c.1463A>G (p.Gln488Arg) n.479-21786T>C n.563+22534T>C c.1481A>G (p.Gln494Arg) | |
4 | g.47937238T>G | CA356826412 | CNGA1,NIPAL1 | c.1244A>C (p.Gln415Pro) c.1256A>C (p.Gln419Pro) c.1463A>C (p.Gln488Pro) n.479-21786T>G n.563+22534T>G c.1481A>C (p.Gln494Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.47937238T= | CA1455551890 | CNGA1,NIPAL1 | c.1244A= (p.Gln415=) c.1256A= (p.Gln419=) c.1463A= (p.Gln488=) n.479-21786T= n.563+22534T= c.1481A= (p.Gln494=) | |
4 | g.47937239G>A | CA356826415 | CNGA1,NIPAL1 | c.1243C>T (p.Gln415Ter) c.1255C>T (p.Gln419Ter) c.1462C>T (p.Gln488Ter) n.479-21785G>A n.563+22535G>A c.1480C>T (p.Gln494Ter) | gnomAD v4 |
4 | g.47937239G>C | CA356826417 | CNGA1,NIPAL1 | c.1243C>G (p.Gln415Glu) c.1255C>G (p.Gln419Glu) c.1462C>G (p.Gln488Glu) n.479-21785G>C n.563+22535G>C c.1480C>G (p.Gln494Glu) | |
4 | g.47937239G= | CA1455551891 | CNGA1,NIPAL1 | c.1243C= (p.Gln415=) c.1255C= (p.Gln419=) c.1462C= (p.Gln488=) n.479-21785G= n.563+22535G= c.1480C= (p.Gln494=) | |
4 | g.47937239G>T | CA356826419 | CNGA1,NIPAL1 | c.1243C>A (p.Gln415Lys) c.1255C>A (p.Gln419Lys) c.1462C>A (p.Gln488Lys) n.479-21785G>T n.563+22535G>T c.1480C>A (p.Gln494Lys) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47937240C>A | CA356826422 | CNGA1,NIPAL1 | c.1242G>T (p.Lys414Asn) c.1254G>T (p.Lys418Asn) c.1461G>T (p.Lys487Asn) n.479-21784C>A n.563+22536C>A c.1479G>T (p.Lys493Asn) | |
4 | g.47937240C>G | CA356826424 | CNGA1,NIPAL1 | c.1242G>C (p.Lys414Asn) c.1254G>C (p.Lys418Asn) c.1461G>C (p.Lys487Asn) n.479-21784C>G n.563+22536C>G c.1479G>C (p.Lys493Asn) | |
4 | g.47937240C>T | CA439404177 | CNGA1,NIPAL1 | c.1242G>A (p.Lys414=) c.1254G>A (p.Lys418=) c.1461G>A (p.Lys487=) n.479-21784C>T n.563+22536C>T c.1479G>A (p.Lys493=) | |
4 | g.47937241T>A | CA356826429 | CNGA1,NIPAL1 | c.1241A>T (p.Lys414Met) c.1253A>T (p.Lys418Met) c.1460A>T (p.Lys487Met) n.479-21783T>A n.563+22537T>A c.1478A>T (p.Lys493Met) | |
4 | g.47937241T>C | CA356826432 | CNGA1,NIPAL1 | c.1241A>G (p.Lys414Arg) c.1253A>G (p.Lys418Arg) c.1460A>G (p.Lys487Arg) n.479-21783T>C n.563+22537T>C c.1478A>G (p.Lys493Arg) | dbSNP |
4 | g.47937241T>G | CA356826428 | CNGA1,NIPAL1 | c.1241A>C (p.Lys414Thr) c.1253A>C (p.Lys418Thr) c.1460A>C (p.Lys487Thr) n.479-21783T>G n.563+22537T>G c.1478A>C (p.Lys493Thr) | |
4 | g.47937241T= | CA1455551892 | CNGA1,NIPAL1 | c.1241A= (p.Lys414=) c.1253A= (p.Lys418=) c.1460A= (p.Lys487=) n.479-21783T= n.563+22537T= c.1478A= (p.Lys493=) | |
4 | g.47937242T>A | CA356826434 | CNGA1,NIPAL1 | c.1240A>T (p.Lys414Ter) c.1252A>T (p.Lys418Ter) c.1459A>T (p.Lys487Ter) n.479-21782T>A n.563+22538T>A c.1477A>T (p.Lys493Ter) | |
4 | g.47937242T>C | CA356826436 | CNGA1,NIPAL1 | c.1240A>G (p.Lys414Glu) c.1252A>G (p.Lys418Glu) c.1459A>G (p.Lys487Glu) n.479-21782T>C n.563+22538T>C c.1477A>G (p.Lys493Glu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47937242T>G | CA356826438 | CNGA1,NIPAL1 | c.1240A>C (p.Lys414Gln) c.1252A>C (p.Lys418Gln) c.1459A>C (p.Lys487Gln) n.479-21782T>G n.563+22538T>G c.1477A>C (p.Lys493Gln) | |
4 | g.47937242T= | CA1455551893 | CNGA1,NIPAL1 | c.1240A= (p.Lys414=) c.1252A= (p.Lys418=) c.1459A= (p.Lys487=) n.479-21782T= n.563+22538T= c.1477A= (p.Lys493=) | |
4 | g.47937243G>A | CA439404178 | CNGA1,NIPAL1 | c.1239C>T (p.Ile413=) c.1251C>T (p.Ile417=) c.1458C>T (p.Ile486=) n.479-21781G>A n.563+22539G>A c.1476C>T (p.Ile492=) | |
4 | g.47937243G>C | CA356826442 | CNGA1,NIPAL1 | c.1239C>G (p.Ile413Met) c.1251C>G (p.Ile417Met) c.1458C>G (p.Ile486Met) n.479-21781G>C n.563+22539G>C c.1476C>G (p.Ile492Met) | dbSNP |
4 | g.47937243G= | CA1455551894 | CNGA1,NIPAL1 | c.1239C= (p.Ile413=) c.1251C= (p.Ile417=) c.1458C= (p.Ile486=) n.479-21781G= n.563+22539G= c.1476C= (p.Ile492=) | |
4 | g.47937243G>T | CA439404179 | CNGA1,NIPAL1 | c.1239C>A (p.Ile413=) c.1251C>A (p.Ile417=) c.1458C>A (p.Ile486=) n.479-21781G>T n.563+22539G>T c.1476C>A (p.Ile492=) | gnomAD v4 |
4 | g.47937244A>C | CA356826445 | CNGA1,NIPAL1 | c.1238T>G (p.Ile413Ser) c.1250T>G (p.Ile417Ser) c.1457T>G (p.Ile486Ser) n.479-21780A>C n.563+22540A>C c.1475T>G (p.Ile492Ser) | |
4 | g.47937244A>G | CA356826446 | CNGA1,NIPAL1 | c.1238T>C (p.Ile413Thr) c.1250T>C (p.Ile417Thr) c.1457T>C (p.Ile486Thr) n.479-21780A>G n.563+22540A>G c.1475T>C (p.Ile492Thr) | |
4 | g.47937244A>T | CA356826447 | CNGA1,NIPAL1 | c.1238T>A (p.Ile413Asn) c.1250T>A (p.Ile417Asn) c.1457T>A (p.Ile486Asn) n.479-21780A>T n.563+22540A>T c.1475T>A (p.Ile492Asn) | |
4 | g.47937245T>A | CA356826449 | CNGA1,NIPAL1 | c.1237A>T (p.Ile413Phe) c.1249A>T (p.Ile417Phe) c.1456A>T (p.Ile486Phe) n.479-21779T>A n.563+22541T>A c.1474A>T (p.Ile492Phe) | gnomAD v4 |
4 | g.47937245T>C | CA2911108 | CNGA1,NIPAL1 | c.1237A>G (p.Ile413Val) c.1249A>G (p.Ile417Val) c.1456A>G (p.Ile486Val) n.479-21779T>C n.563+22541T>C c.1474A>G (p.Ile492Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47937245T>G | CA356826452 | CNGA1,NIPAL1 | c.1237A>C (p.Ile413Leu) c.1249A>C (p.Ile417Leu) c.1456A>C (p.Ile486Leu) n.479-21779T>G n.563+22541T>G c.1474A>C (p.Ile492Leu) | |
4 | g.47937245T= | CA1455551895 | CNGA1,NIPAL1 | c.1237A= (p.Ile413=) c.1249A= (p.Ile417=) c.1456A= (p.Ile486=) n.479-21779T= n.563+22541T= c.1474A= (p.Ile492=) | |
4 | g.47937246A>C | CA439404186 | CNGA1,NIPAL1 | c.1236T>G (p.Ala412=) c.1248T>G (p.Ala416=) c.1455T>G (p.Ala485=) n.479-21778A>C n.563+22542A>C c.1473T>G (p.Ala491=) | |
4 | g.47937246A>G | CA439404185 | CNGA1,NIPAL1 | c.1236T>C (p.Ala412=) c.1248T>C (p.Ala416=) c.1455T>C (p.Ala485=) n.479-21778A>G n.563+22542A>G c.1473T>C (p.Ala491=) | |
4 | g.47937246A>T | CA439404184 | CNGA1,NIPAL1 | c.1236T>A (p.Ala412=) c.1248T>A (p.Ala416=) c.1455T>A (p.Ala485=) n.479-21778A>T n.563+22542A>T c.1473T>A (p.Ala491=) | |
4 | g.47937247G>A | CA356826456 | CNGA1,NIPAL1 | c.1235C>T (p.Ala412Val) c.1247C>T (p.Ala416Val) c.1454C>T (p.Ala485Val) n.479-21777G>A n.563+22543G>A c.1472C>T (p.Ala491Val) | gnomAD v4 |
4 | g.47937247G>C | CA356826457 | CNGA1,NIPAL1 | c.1235C>G (p.Ala412Gly) c.1247C>G (p.Ala416Gly) c.1454C>G (p.Ala485Gly) n.479-21777G>C n.563+22543G>C c.1472C>G (p.Ala491Gly) | |
4 | g.47937247G>T | CA356826459 | CNGA1,NIPAL1 | c.1235C>A (p.Ala412Asp) c.1247C>A (p.Ala416Asp) c.1454C>A (p.Ala485Asp) n.479-21777G>T n.563+22543G>T c.1472C>A (p.Ala491Asp) | |
4 | g.47937248C>A | CA356826466 | CNGA1,NIPAL1 | c.1234G>T (p.Ala412Ser) c.1246G>T (p.Ala416Ser) c.1453G>T (p.Ala485Ser) n.479-21776C>A n.563+22544C>A c.1471G>T (p.Ala491Ser) | |
4 | g.47937248C= | CA1455551896 | CNGA1,NIPAL1 | c.1234G= (p.Ala412=) c.1246G= (p.Ala416=) c.1453G= (p.Ala485=) n.479-21776C= n.563+22544C= c.1471G= (p.Ala491=) | |
4 | g.47937248C>G | CA356826463 | CNGA1,NIPAL1 | c.1234G>C (p.Ala412Pro) c.1246G>C (p.Ala416Pro) c.1453G>C (p.Ala485Pro) n.479-21776C>G n.563+22544C>G c.1471G>C (p.Ala491Pro) | |
4 | g.47937248C>T | CA356826462 | CNGA1,NIPAL1 | c.1234G>A (p.Ala412Thr) c.1246G>A (p.Ala416Thr) c.1453G>A (p.Ala485Thr) n.479-21776C>T n.563+22544C>T c.1471G>A (p.Ala491Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.47937249A>C | CA356826468 | CNGA1,NIPAL1 | c.1233T>G (p.Asp411Glu) c.1245T>G (p.Asp415Glu) c.1452T>G (p.Asp484Glu) n.479-21775A>C n.563+22545A>C c.1470T>G (p.Asp490Glu) | |
4 | g.47937249A>G | CA439404189 | CNGA1,NIPAL1 | c.1233T>C (p.Asp411=) c.1245T>C (p.Asp415=) c.1452T>C (p.Asp484=) n.479-21775A>G n.563+22545A>G c.1470T>C (p.Asp490=) | gnomAD v4 |
4 | g.47937249A>T | CA356826470 | CNGA1,NIPAL1 | c.1233T>A (p.Asp411Glu) c.1245T>A (p.Asp415Glu) c.1452T>A (p.Asp484Glu) n.479-21775A>T n.563+22545A>T c.1470T>A (p.Asp490Glu) | gnomAD v4 |
4 | g.47937250T>A | CA356826473 | CNGA1,NIPAL1 | c.1232A>T (p.Asp411Val) c.1244A>T (p.Asp415Val) c.1451A>T (p.Asp484Val) n.479-21774T>A n.563+22546T>A c.1469A>T (p.Asp490Val) | |
4 | g.47937250T>C | CA356826475 | CNGA1,NIPAL1 | c.1232A>G (p.Asp411Gly) c.1244A>G (p.Asp415Gly) c.1451A>G (p.Asp484Gly) n.479-21774T>C n.563+22546T>C c.1469A>G (p.Asp490Gly) | |
4 | g.47937250T>G | CA356826477 | CNGA1,NIPAL1 | c.1232A>C (p.Asp411Ala) c.1244A>C (p.Asp415Ala) c.1451A>C (p.Asp484Ala) n.479-21774T>G n.563+22546T>G c.1469A>C (p.Asp490Ala) | |
4 | g.47937251C>A | CA356826480 | CNGA1,NIPAL1 | c.1231G>T (p.Asp411Tyr) c.1243G>T (p.Asp415Tyr) c.1450G>T (p.Asp484Tyr) n.479-21773C>A n.563+22547C>A c.1468G>T (p.Asp490Tyr) | |
4 | g.47937251C>G | CA356826482 | CNGA1,NIPAL1 | c.1231G>C (p.Asp411His) c.1243G>C (p.Asp415His) c.1450G>C (p.Asp484His) n.479-21773C>G n.563+22547C>G c.1468G>C (p.Asp490His) | |
4 | g.47937251C>T | CA356826483 | CNGA1,NIPAL1 | c.1231G>A (p.Asp411Asn) c.1243G>A (p.Asp415Asn) c.1450G>A (p.Asp484Asn) n.479-21773C>T n.563+22547C>T c.1468G>A (p.Asp490Asn) | |
4 | g.47937252A>C | CA356826487 | CNGA1,NIPAL1 | c.1230T>G (p.Ile410Met) c.1242T>G (p.Ile414Met) c.1449T>G (p.Ile483Met) n.479-21772A>C n.563+22548A>C c.1467T>G (p.Ile489Met) | |
4 | g.47937252A>G | CA439404190 | CNGA1,NIPAL1 | c.1230T>C (p.Ile410=) c.1242T>C (p.Ile414=) c.1449T>C (p.Ile483=) n.479-21772A>G n.563+22548A>G c.1467T>C (p.Ile489=) | |
4 | g.47937252A>T | CA439404191 | CNGA1,NIPAL1 | c.1230T>A (p.Ile410=) c.1242T>A (p.Ile414=) c.1449T>A (p.Ile483=) n.479-21772A>T n.563+22548A>T c.1467T>A (p.Ile489=) | |
4 | g.47937253del | CA2670552353 | CNGA1,NIPAL1 | c.1230del (p.Ile410MetfsTer13) c.1242del (p.Ile414MetfsTer13) c.1449del (p.Ile483MetfsTer13) n.479-21771del n.563+22549del c.1467del (p.Ile489MetfsTer13) | gnomAD v4 |
4 | g.47937253A= | CA1455551897 | CNGA1,NIPAL1 | c.1229T= (p.Ile410=) c.1241T= (p.Ile414=) c.1448T= (p.Ile483=) n.479-21771A= n.563+22549A= c.1466T= (p.Ile489=) | |
4 | g.47937253A>C | CA356826490 | CNGA1,NIPAL1 | c.1229T>G (p.Ile410Ser) c.1241T>G (p.Ile414Ser) c.1448T>G (p.Ile483Ser) n.479-21771A>C n.563+22549A>C c.1466T>G (p.Ile489Ser) | |
4 | g.47937253A>G | CA356826491 | CNGA1,NIPAL1 | c.1229T>C (p.Ile410Thr) c.1241T>C (p.Ile414Thr) c.1448T>C (p.Ile483Thr) n.479-21771A>G n.563+22549A>G c.1466T>C (p.Ile489Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.47937253A>T | CA356826494 | CNGA1,NIPAL1 | c.1229T>A (p.Ile410Asn) c.1241T>A (p.Ile414Asn) c.1448T>A (p.Ile483Asn) n.479-21771A>T n.563+22549A>T c.1466T>A (p.Ile489Asn) | |
4 | g.47937254T>A | CA356826501 | CNGA1,NIPAL1 | c.1228A>T (p.Ile410Phe) c.1240A>T (p.Ile414Phe) c.1447A>T (p.Ile483Phe) n.479-21770T>A n.563+22550T>A c.1465A>T (p.Ile489Phe) | |
4 | g.47937254T>C | CA2911109 | CNGA1,NIPAL1 | c.1228A>G (p.Ile410Val) c.1240A>G (p.Ile414Val) c.1447A>G (p.Ile483Val) n.479-21770T>C n.563+22550T>C c.1465A>G (p.Ile489Val) | dbSNP ExAC gnomAD v2 |
4 | g.47937254T>G | CA356826497 | CNGA1,NIPAL1 | c.1228A>C (p.Ile410Leu) c.1240A>C (p.Ile414Leu) c.1447A>C (p.Ile483Leu) n.479-21770T>G n.563+22550T>G c.1465A>C (p.Ile489Leu) | |
4 | g.47937254T= | CA1455551898 | CNGA1,NIPAL1 | c.1228A= (p.Ile410=) c.1240A= (p.Ile414=) c.1447A= (p.Ile483=) n.479-21770T= n.563+22550T= c.1465A= (p.Ile489=) | |
4 | g.47937255del | CA2538638686 | CNGA1,NIPAL1 | c.1228del (p.Ile410LeufsTer13) c.1240del (p.Ile414LeufsTer13) c.1447del (p.Ile483LeufsTer13) n.479-21769del n.563+22551del c.1465del (p.Ile489LeufsTer13) | |
4 | g.47937255T>A | CA356826504 | CNGA1,NIPAL1 | c.1227A>T (p.Arg409Ser) c.1239A>T (p.Arg413Ser) c.1446A>T (p.Arg482Ser) n.479-21769T>A n.563+22551T>A c.1464A>T (p.Arg488Ser) | |
4 | g.47937255T>C | CA439404192 | CNGA1,NIPAL1 | c.1227A>G (p.Arg409=) c.1239A>G (p.Arg413=) c.1446A>G (p.Arg482=) n.479-21769T>C n.563+22551T>C c.1464A>G (p.Arg488=) | |
4 | g.47937255T>G | CA356826505 | CNGA1,NIPAL1 | c.1227A>C (p.Arg409Ser) c.1239A>C (p.Arg413Ser) c.1446A>C (p.Arg482Ser) n.479-21769T>G n.563+22551T>G c.1464A>C (p.Arg488Ser) | |
4 | g.47937256C>A | CA356826509 | CNGA1,NIPAL1 | c.1226G>T (p.Arg409Ile) c.1238G>T (p.Arg413Ile) c.1445G>T (p.Arg482Ile) n.479-21768C>A n.563+22552C>A c.1463G>T (p.Arg488Ile) | dbSNP gnomAD v4 COSMIC COSMIC |
4 | g.47937256C= | CA1455551899 | CNGA1,NIPAL1 | c.1226G= (p.Arg409=) c.1238G= (p.Arg413=) c.1445G= (p.Arg482=) n.479-21768C= n.563+22552C= c.1463G= (p.Arg488=) | |
4 | g.47937256C>G | CA356826513 | CNGA1,NIPAL1 | c.1226G>C (p.Arg409Thr) c.1238G>C (p.Arg413Thr) c.1445G>C (p.Arg482Thr) n.479-21768C>G n.563+22552C>G c.1463G>C (p.Arg488Thr) | |
4 | g.47937256C>T | CA356826510 | CNGA1,NIPAL1 | c.1226G>A (p.Arg409Lys) c.1238G>A (p.Arg413Lys) c.1445G>A (p.Arg482Lys) n.479-21768C>T n.563+22552C>T c.1463G>A (p.Arg488Lys) | dbSNP gnomAD v4 |
4 | g.47937257T>A | CA356826516 | CNGA1,NIPAL1 | c.1225A>T (p.Arg409Ter) c.1237A>T (p.Arg413Ter) c.1444A>T (p.Arg482Ter) n.479-21767T>A n.563+22553T>A c.1462A>T (p.Arg488Ter) | |
4 | g.47937257T>C | CA356826518 | CNGA1,NIPAL1 | c.1225A>G (p.Arg409Gly) c.1237A>G (p.Arg413Gly) c.1444A>G (p.Arg482Gly) n.479-21767T>C n.563+22553T>C c.1462A>G (p.Arg488Gly) | |
4 | g.47937257T>G | CA439404196 | CNGA1,NIPAL1 | c.1225A>C (p.Arg409=) c.1237A>C (p.Arg413=) c.1444A>C (p.Arg482=) n.479-21767T>G n.563+22553T>G c.1462A>C (p.Arg488=) | |
4 | g.47937258T>A | CA439404197 | CNGA1,NIPAL1 | c.1224A>T (p.Ala408=) c.1236A>T (p.Ala412=) c.1443A>T (p.Ala481=) n.479-21766T>A n.563+22554T>A c.1461A>T (p.Ala487=) | |
4 | g.47937258T>C | CA439404198 | CNGA1,NIPAL1 | c.1224A>G (p.Ala408=) c.1236A>G (p.Ala412=) c.1443A>G (p.Ala481=) n.479-21766T>C n.563+22554T>C c.1461A>G (p.Ala487=) | |
4 | g.47937258T>G | CA439404200 | CNGA1,NIPAL1 | c.1224A>C (p.Ala408=) c.1236A>C (p.Ala412=) c.1443A>C (p.Ala481=) n.479-21766T>G n.563+22554T>G c.1461A>C (p.Ala487=) | |
4 | g.47937259G>A | CA96688850 | CNGA1,NIPAL1 | c.1223C>T (p.Ala408Val) c.1235C>T (p.Ala412Val) c.1442C>T (p.Ala481Val) n.479-21765G>A n.563+22555G>A c.1460C>T (p.Ala487Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47937259G>C | CA356826522 | CNGA1,NIPAL1 | c.1223C>G (p.Ala408Gly) c.1235C>G (p.Ala412Gly) c.1442C>G (p.Ala481Gly) n.479-21765G>C n.563+22555G>C c.1460C>G (p.Ala487Gly) | dbSNP |
4 | g.47937259G= | CA1455551900 | CNGA1,NIPAL1 | c.1223C= (p.Ala408=) c.1235C= (p.Ala412=) c.1442C= (p.Ala481=) n.479-21765G= n.563+22555G= c.1460C= (p.Ala487=) | |
4 | g.47937259G>T | CA356826524 | CNGA1,NIPAL1 | c.1223C>A (p.Ala408Glu) c.1235C>A (p.Ala412Glu) c.1442C>A (p.Ala481Glu) n.479-21765G>T n.563+22555G>T c.1460C>A (p.Ala487Glu) | |
4 | g.47937259dup | CA2512017241 | CNGA1,NIPAL1 | c.1223dup (p.Arg409LysfsTer3) c.1235dup (p.Arg413LysfsTer3) c.1442dup (p.Arg482LysfsTer3) n.479-21765dup n.563+22555dup c.1460dup (p.Arg488LysfsTer3) | |
4 | g.47937260C>A | CA356826528 | CNGA1,NIPAL1 | c.1222G>T (p.Ala408Ser) c.1234G>T (p.Ala412Ser) c.1441G>T (p.Ala481Ser) n.479-21764C>A n.563+22556C>A c.1459G>T (p.Ala487Ser) | |
4 | g.47937260C>G | CA356826530 | CNGA1,NIPAL1 | c.1222G>C (p.Ala408Pro) c.1234G>C (p.Ala412Pro) c.1441G>C (p.Ala481Pro) n.479-21764C>G n.563+22556C>G c.1459G>C (p.Ala487Pro) | ClinVar |
4 | g.47937260C>T | CA356826532 | CNGA1,NIPAL1 | c.1222G>A (p.Ala408Thr) c.1234G>A (p.Ala412Thr) c.1441G>A (p.Ala481Thr) n.479-21764C>T n.563+22556C>T c.1459G>A (p.Ala487Thr) | |
4 | g.47937261T>A | CA356826535 | CNGA1,NIPAL1 | c.1221A>T (p.Gln407His) c.1233A>T (p.Gln411His) c.1440A>T (p.Gln480His) n.479-21763T>A n.563+22557T>A c.1458A>T (p.Gln486His) | |
4 | g.47937261T>C | CA439404204 | CNGA1,NIPAL1 | c.1221A>G (p.Gln407=) c.1233A>G (p.Gln411=) c.1440A>G (p.Gln480=) n.479-21763T>C n.563+22557T>C c.1458A>G (p.Gln486=) | |
4 | g.47937261T>G | CA356826538 | CNGA1,NIPAL1 | c.1221A>C (p.Gln407His) c.1233A>C (p.Gln411His) c.1440A>C (p.Gln480His) n.479-21763T>G n.563+22557T>G c.1458A>C (p.Gln486His) | |
4 | g.47937262T>A | CA356826540 | CNGA1,NIPAL1 | c.1220A>T (p.Gln407Leu) c.1232A>T (p.Gln411Leu) c.1439A>T (p.Gln480Leu) n.479-21762T>A n.563+22558T>A c.1457A>T (p.Gln486Leu) | |
4 | g.47937262T>C | CA2911110 | CNGA1,NIPAL1 | c.1220A>G (p.Gln407Arg) c.1232A>G (p.Gln411Arg) c.1439A>G (p.Gln480Arg) n.479-21762T>C n.563+22558T>C c.1457A>G (p.Gln486Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47937262T>G | CA356826544 | CNGA1,NIPAL1 | c.1220A>C (p.Gln407Pro) c.1232A>C (p.Gln411Pro) c.1439A>C (p.Gln480Pro) n.479-21762T>G n.563+22558T>G c.1457A>C (p.Gln486Pro) | |
4 | g.47937262T= | CA1455551901 | CNGA1,NIPAL1 | c.1220A= (p.Gln407=) c.1232A= (p.Gln411=) c.1439A= (p.Gln480=) n.479-21762T= n.563+22558T= c.1457A= (p.Gln486=) | |
4 | g.47937263G>A | CA356826547 | CNGA1,NIPAL1 | c.1219C>T (p.Gln407Ter) c.1231C>T (p.Gln411Ter) c.1438C>T (p.Gln480Ter) n.479-21761G>A n.563+22559G>A c.1456C>T (p.Gln486Ter) | |
4 | g.47937263G>C | CA356826549 | CNGA1,NIPAL1 | c.1219C>G (p.Gln407Glu) c.1231C>G (p.Gln411Glu) c.1438C>G (p.Gln480Glu) n.479-21761G>C n.563+22559G>C c.1456C>G (p.Gln486Glu) | |
4 | g.47937263G>T | CA356826550 | CNGA1,NIPAL1 | c.1219C>A (p.Gln407Lys) c.1231C>A (p.Gln411Lys) c.1438C>A (p.Gln480Lys) n.479-21761G>T n.563+22559G>T c.1456C>A (p.Gln486Lys) | |
4 | g.47937264A= | CA1455551902 | CNGA1,NIPAL1 | c.1218T= (p.Phe406=) c.1230T= (p.Phe410=) c.1437T= (p.Phe479=) n.479-21760A= n.563+22560A= c.1455T= (p.Phe485=) | |
4 | g.47937264A>C | CA356826554 | CNGA1,NIPAL1 | c.1218T>G (p.Phe406Leu) c.1230T>G (p.Phe410Leu) c.1437T>G (p.Phe479Leu) n.479-21760A>C n.563+22560A>C c.1455T>G (p.Phe485Leu) | dbSNP gnomAD v4 |
4 | g.47937264A>G | CA439404206 | CNGA1,NIPAL1 | c.1218T>C (p.Phe406=) c.1230T>C (p.Phe410=) c.1437T>C (p.Phe479=) n.479-21760A>G n.563+22560A>G c.1455T>C (p.Phe485=) | |
4 | g.47937264A>T | CA356826553 | CNGA1,NIPAL1 | c.1218T>A (p.Phe406Leu) c.1230T>A (p.Phe410Leu) c.1437T>A (p.Phe479Leu) n.479-21760A>T n.563+22560A>T c.1455T>A (p.Phe485Leu) | |
4 | g.47937265A>C | CA356826558 | CNGA1,NIPAL1 | c.1217T>G (p.Phe406Cys) c.1229T>G (p.Phe410Cys) c.1436T>G (p.Phe479Cys) n.479-21759A>C n.563+22561A>C c.1454T>G (p.Phe485Cys) | |
4 | g.47937265A>G | CA356826559 | CNGA1,NIPAL1 | c.1217T>C (p.Phe406Ser) c.1229T>C (p.Phe410Ser) c.1436T>C (p.Phe479Ser) n.479-21759A>G n.563+22561A>G c.1454T>C (p.Phe485Ser) | |
4 | g.47937265A>T | CA356826561 | CNGA1,NIPAL1 | c.1217T>A (p.Phe406Tyr) c.1229T>A (p.Phe410Tyr) c.1436T>A (p.Phe479Tyr) n.479-21759A>T n.563+22561A>T c.1454T>A (p.Phe485Tyr) | |
4 | g.47937266A>C | CA356826565 | CNGA1,NIPAL1 | c.1216T>G (p.Phe406Val) c.1228T>G (p.Phe410Val) c.1435T>G (p.Phe479Val) n.479-21758A>C n.563+22562A>C c.1453T>G (p.Phe485Val) | |
4 | g.47937266A>G | CA356826567 | CNGA1,NIPAL1 | c.1216T>C (p.Phe406Leu) c.1228T>C (p.Phe410Leu) c.1435T>C (p.Phe479Leu) n.479-21758A>G n.563+22562A>G c.1453T>C (p.Phe485Leu) | |
4 | g.47937266A>T | CA356826568 | CNGA1,NIPAL1 | c.1216T>A (p.Phe406Ile) c.1228T>A (p.Phe410Ile) c.1435T>A (p.Phe479Ile) n.479-21758A>T n.563+22562A>T c.1453T>A (p.Phe485Ile) | gnomAD v4 |
4 | g.47937267T>A | CA356826573 | CNGA1,NIPAL1 | c.1215A>T (p.Glu405Asp) c.1227A>T (p.Glu409Asp) c.1434A>T (p.Glu478Asp) n.479-21757T>A n.563+22563T>A c.1452A>T (p.Glu484Asp) | |
4 | g.47937267T>C | CA439404208 | CNGA1,NIPAL1 | c.1215A>G (p.Glu405=) c.1227A>G (p.Glu409=) c.1434A>G (p.Glu478=) n.479-21757T>C n.563+22563T>C c.1452A>G (p.Glu484=) | |
4 | g.47937267T>G | CA356826572 | CNGA1,NIPAL1 | c.1215A>C (p.Glu405Asp) c.1227A>C (p.Glu409Asp) c.1434A>C (p.Glu478Asp) n.479-21757T>G n.563+22563T>G c.1452A>C (p.Glu484Asp) | |
4 | g.47937267_47937272delinsTTCTGC | CA1455551903 | CNGA1,NIPAL1 | c.1210_1215delinsGCAGAA (p.Ala404=) c.1222_1227delinsGCAGAA (p.Ala408=) c.1429_1434delinsGCAGAA (p.Ala477=) n.479-21757_479-21752delinsTTCTGC n.563+22563_563+22568delinsTTCTGC c.1447_1452delinsGCAGAA (p.Ala483=) | |
4 | g.47937268T>A | CA356826576 | CNGA1,NIPAL1 | c.1214A>T (p.Glu405Val) c.1226A>T (p.Glu409Val) c.1433A>T (p.Glu478Val) n.479-21756T>A n.563+22564T>A c.1451A>T (p.Glu484Val) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47937268T>C | CA356826577 | CNGA1,NIPAL1 | c.1214A>G (p.Glu405Gly) c.1226A>G (p.Glu409Gly) c.1433A>G (p.Glu478Gly) n.479-21756T>C n.563+22564T>C c.1451A>G (p.Glu484Gly) | |
4 | g.47937268T>G | CA356826580 | CNGA1,NIPAL1 | c.1214A>C (p.Glu405Ala) c.1226A>C (p.Glu409Ala) c.1433A>C (p.Glu478Ala) n.479-21756T>G n.563+22564T>G c.1451A>C (p.Glu484Ala) | |
4 | g.47937268T= | CA1455551904 | CNGA1,NIPAL1 | c.1214A= (p.Glu405=) c.1226A= (p.Glu409=) c.1433A= (p.Glu478=) n.479-21756T= n.563+22564T= c.1451A= (p.Glu484=) | |
4 | g.47937272_47937276del | CA1139658482 | CNGA1,NIPAL1 | c.1210_1214del (p.Ala404IlefsTer6) c.1222_1226del (p.Ala408IlefsTer6) c.1429_1433del (p.Ala477IlefsTer6) n.479-21752_479-21748del n.563+22568_563+22572del c.1447_1451del (p.Ala483IlefsTer6) | ClinVar dbSNP |
4 | g.47937269C>A | CA356826583 | CNGA1,NIPAL1 | c.1213G>T (p.Glu405Ter) c.1225G>T (p.Glu409Ter) c.1432G>T (p.Glu478Ter) n.479-21755C>A n.563+22565C>A c.1450G>T (p.Glu484Ter) | |
4 | g.47937269C>G | CA356826585 | CNGA1,NIPAL1 | c.1213G>C (p.Glu405Gln) c.1225G>C (p.Glu409Gln) c.1432G>C (p.Glu478Gln) n.479-21755C>G n.563+22565C>G c.1450G>C (p.Glu484Gln) | |
4 | g.47937269C>T | CA356826587 | CNGA1,NIPAL1 | c.1213G>A (p.Glu405Lys) c.1225G>A (p.Glu409Lys) c.1432G>A (p.Glu478Lys) n.479-21755C>T n.563+22565C>T c.1450G>A (p.Glu484Lys) | |
4 | g.47937270T>A | CA439404210 | CNGA1,NIPAL1 | c.1212A>T (p.Ala404=) c.1224A>T (p.Ala408=) c.1431A>T (p.Ala477=) n.479-21754T>A n.563+22566T>A c.1449A>T (p.Ala483=) | |
4 | g.47937270T>C | CA439404211 | CNGA1,NIPAL1 | c.1212A>G (p.Ala404=) c.1224A>G (p.Ala408=) c.1431A>G (p.Ala477=) n.479-21754T>C n.563+22566T>C c.1449A>G (p.Ala483=) | |
4 | g.47937270T>G | CA439404212 | CNGA1,NIPAL1 | c.1212A>C (p.Ala404=) c.1224A>C (p.Ala408=) c.1431A>C (p.Ala477=) n.479-21754T>G n.563+22566T>G c.1449A>C (p.Ala483=) | |
4 | g.47937271G>A | CA356826593 | CNGA1,NIPAL1 | c.1211C>T (p.Ala404Val) c.1223C>T (p.Ala408Val) c.1430C>T (p.Ala477Val) n.479-21753G>A n.563+22567G>A c.1448C>T (p.Ala483Val) | |
4 | g.47937271G>C | CA356826590 | CNGA1,NIPAL1 | c.1211C>G (p.Ala404Gly) c.1223C>G (p.Ala408Gly) c.1430C>G (p.Ala477Gly) n.479-21753G>C n.563+22567G>C c.1448C>G (p.Ala483Gly) | |
4 | g.47937271G= | CA1455551905 | CNGA1,NIPAL1 | c.1211C= (p.Ala404=) c.1223C= (p.Ala408=) c.1430C= (p.Ala477=) n.479-21753G= n.563+22567G= c.1448C= (p.Ala483=) | |
4 | g.47937271G>T | CA356826591 | CNGA1,NIPAL1 | c.1211C>A (p.Ala404Glu) c.1223C>A (p.Ala408Glu) c.1430C>A (p.Ala477Glu) n.479-21753G>T n.563+22567G>T c.1448C>A (p.Ala483Glu) | dbSNP gnomAD v4 COSMIC COSMIC |
4 | g.47937272C>A | CA356826596 | CNGA1,NIPAL1 | c.1210G>T (p.Ala404Ser) c.1222G>T (p.Ala408Ser) c.1429G>T (p.Ala477Ser) n.479-21752C>A n.563+22568C>A c.1447G>T (p.Ala483Ser) | |
4 | g.47937272C= | CA1455551906 | CNGA1,NIPAL1 | c.1210G= (p.Ala404=) c.1222G= (p.Ala408=) c.1429G= (p.Ala477=) n.479-21752C= n.563+22568C= c.1447G= (p.Ala483=) | |
4 | g.47937272C>G | CA356826598 | CNGA1,NIPAL1 | c.1210G>C (p.Ala404Pro) c.1222G>C (p.Ala408Pro) c.1429G>C (p.Ala477Pro) n.479-21752C>G n.563+22568C>G c.1447G>C (p.Ala483Pro) | |
4 | g.47937272C>T | CA356826600 | CNGA1,NIPAL1 | c.1210G>A (p.Ala404Thr) c.1222G>A (p.Ala408Thr) c.1429G>A (p.Ala477Thr) n.479-21752C>T n.563+22568C>T c.1447G>A (p.Ala483Thr) | dbSNP |
4 | g.47937273T>A | CA356826603 | CNGA1,NIPAL1 | c.1209A>T (p.Arg403Ser) c.1221A>T (p.Arg407Ser) c.1428A>T (p.Arg476Ser) n.479-21751T>A n.563+22569T>A c.1446A>T (p.Arg482Ser) | |
4 | g.47937273T>C | CA439404288 | CNGA1,NIPAL1 | c.1209A>G (p.Arg403=) c.1221A>G (p.Arg407=) c.1428A>G (p.Arg476=) n.479-21751T>C n.563+22569T>C c.1446A>G (p.Arg482=) | gnomAD v4 |
4 | g.47937273T>G | CA356826605 | CNGA1,NIPAL1 | c.1209A>C (p.Arg403Ser) c.1221A>C (p.Arg407Ser) c.1428A>C (p.Arg476Ser) n.479-21751T>G n.563+22569T>G c.1446A>C (p.Arg482Ser) | |
4 | g.47937274C>A | CA356826608 | CNGA1,NIPAL1 | c.1208G>T (p.Arg403Ile) c.1220G>T (p.Arg407Ile) c.1427G>T (p.Arg476Ile) n.479-21750C>A n.563+22570C>A c.1445G>T (p.Arg482Ile) | |
4 | g.47937274C>G | CA356826610 | CNGA1,NIPAL1 | c.1208G>C (p.Arg403Thr) c.1220G>C (p.Arg407Thr) c.1427G>C (p.Arg476Thr) n.479-21750C>G n.563+22570C>G c.1445G>C (p.Arg482Thr) | |
4 | g.47937274C>T | CA356826612 | CNGA1,NIPAL1 | c.1208G>A (p.Arg403Lys) c.1220G>A (p.Arg407Lys) c.1427G>A (p.Arg476Lys) n.479-21750C>T n.563+22570C>T c.1445G>A (p.Arg482Lys) | |
4 | g.47937275T>A | CA356826614 | CNGA1,NIPAL1 | c.1207A>T (p.Arg403Ter) c.1219A>T (p.Arg407Ter) c.1426A>T (p.Arg476Ter) n.479-21749T>A n.563+22571T>A c.1444A>T (p.Arg482Ter) | |
4 | g.47937275T>C | CA356826616 | CNGA1,NIPAL1 | c.1207A>G (p.Arg403Gly) c.1219A>G (p.Arg407Gly) c.1426A>G (p.Arg476Gly) n.479-21749T>C n.563+22571T>C c.1444A>G (p.Arg482Gly) | |
4 | g.47937275T>G | CA439404290 | CNGA1,NIPAL1 | c.1207A>C (p.Arg403=) c.1219A>C (p.Arg407=) c.1426A>C (p.Arg476=) n.479-21749T>G n.563+22571T>G c.1444A>C (p.Arg482=) | |
4 | g.47937276G>A | CA439404291 | CNGA1,NIPAL1 | c.1206C>T (p.Ala402=) c.1218C>T (p.Ala406=) c.1425C>T (p.Ala475=) n.479-21748G>A n.563+22572G>A c.1443C>T (p.Ala481=) | gnomAD v4 |
4 | g.47937276G>C | CA439404293 | CNGA1,NIPAL1 | c.1206C>G (p.Ala402=) c.1218C>G (p.Ala406=) c.1425C>G (p.Ala475=) n.479-21748G>C n.563+22572G>C c.1443C>G (p.Ala481=) | |
4 | g.47937276G>T | CA439404294 | CNGA1,NIPAL1 | c.1206C>A (p.Ala402=) c.1218C>A (p.Ala406=) c.1425C>A (p.Ala475=) n.479-21748G>T n.563+22572G>T c.1443C>A (p.Ala481=) | |
4 | g.47937277G>A | CA356826619 | CNGA1,NIPAL1 | c.1205C>T (p.Ala402Val) c.1217C>T (p.Ala406Val) c.1424C>T (p.Ala475Val) n.479-21747G>A n.563+22573G>A c.1442C>T (p.Ala481Val) | ClinVar dbSNP gnomAD v4 |
4 | g.47937277G>C | CA356826622 | CNGA1,NIPAL1 | c.1205C>G (p.Ala402Gly) c.1217C>G (p.Ala406Gly) c.1424C>G (p.Ala475Gly) n.479-21747G>C n.563+22573G>C c.1442C>G (p.Ala481Gly) | |
4 | g.47937277G>T | CA356826623 | CNGA1,NIPAL1 | c.1205C>A (p.Ala402Asp) c.1217C>A (p.Ala406Asp) c.1424C>A (p.Ala475Asp) n.479-21747G>T n.563+22573G>T c.1442C>A (p.Ala481Asp) | |
4 | g.47937278C>A | CA2911111 | CNGA1,NIPAL1 | c.1204G>T (p.Ala402Ser) c.1216G>T (p.Ala406Ser) c.1423G>T (p.Ala475Ser) n.479-21746C>A n.563+22574C>A c.1441G>T (p.Ala481Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47937278C= | CA1455551907 | CNGA1,NIPAL1 | c.1204G= (p.Ala402=) c.1216G= (p.Ala406=) c.1423G= (p.Ala475=) n.479-21746C= n.563+22574C= c.1441G= (p.Ala481=) | |
4 | g.47937278C>G | CA356826627 | CNGA1,NIPAL1 | c.1204G>C (p.Ala402Pro) c.1216G>C (p.Ala406Pro) c.1423G>C (p.Ala475Pro) n.479-21746C>G n.563+22574C>G c.1441G>C (p.Ala481Pro) | |
4 | g.47937278C>T | CA356826629 | CNGA1,NIPAL1 | c.1204G>A (p.Ala402Thr) c.1216G>A (p.Ala406Thr) c.1423G>A (p.Ala475Thr) n.479-21746C>T n.563+22574C>T c.1441G>A (p.Ala481Thr) | |
4 | g.47937279T>A | CA2911112 | CNGA1,NIPAL1 | c.1203A>T (p.Ala401=) c.1215A>T (p.Ala405=) c.1422A>T (p.Ala474=) n.479-21745T>A n.563+22575T>A c.1440A>T (p.Ala480=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47937279T>C | CA439404298 | CNGA1,NIPAL1 | c.1203A>G (p.Ala401=) c.1215A>G (p.Ala405=) c.1422A>G (p.Ala474=) n.479-21745T>C n.563+22575T>C c.1440A>G (p.Ala480=) | |
4 | g.47937279T>G | CA439404299 | CNGA1,NIPAL1 | c.1203A>C (p.Ala401=) c.1215A>C (p.Ala405=) c.1422A>C (p.Ala474=) n.479-21745T>G n.563+22575T>G c.1440A>C (p.Ala480=) | |
4 | g.47937279T= | CA1455551908 | CNGA1,NIPAL1 | c.1203A= (p.Ala401=) c.1215A= (p.Ala405=) c.1422A= (p.Ala474=) n.479-21745T= n.563+22575T= c.1440A= (p.Ala480=) | |
4 | g.47937280G>A | CA356826635 | CNGA1,NIPAL1 | c.1202C>T (p.Ala401Val) c.1214C>T (p.Ala405Val) c.1421C>T (p.Ala474Val) n.479-21744G>A n.563+22576G>A c.1439C>T (p.Ala480Val) | |
4 | g.47937280G>C | CA356826638 | CNGA1,NIPAL1 | c.1202C>G (p.Ala401Gly) c.1214C>G (p.Ala405Gly) c.1421C>G (p.Ala474Gly) n.479-21744G>C n.563+22576G>C c.1439C>G (p.Ala480Gly) | |
4 | g.47937280G= | CA1455551909 | CNGA1,NIPAL1 | c.1202C= (p.Ala401=) c.1214C= (p.Ala405=) c.1421C= (p.Ala474=) n.479-21744G= n.563+22576G= c.1439C= (p.Ala480=) | |
4 | g.47937280G>T | CA2911113 | CNGA1,NIPAL1 | c.1202C>A (p.Ala401Glu) c.1214C>A (p.Ala405Glu) c.1421C>A (p.Ala474Glu) n.479-21744G>T n.563+22576G>T c.1439C>A (p.Ala480Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47937281C>A | CA356826642 | CNGA1,NIPAL1 | c.1201G>T (p.Ala401Ser) c.1213G>T (p.Ala405Ser) c.1420G>T (p.Ala474Ser) n.479-21743C>A n.563+22577C>A c.1438G>T (p.Ala480Ser) | |
4 | g.47937281C>G | CA356826644 | CNGA1,NIPAL1 | c.1201G>C (p.Ala401Pro) c.1213G>C (p.Ala405Pro) c.1420G>C (p.Ala474Pro) n.479-21743C>G n.563+22577C>G c.1438G>C (p.Ala480Pro) | |
4 | g.47937281C>T | CA356826646 | CNGA1,NIPAL1 | c.1201G>A (p.Ala401Thr) c.1213G>A (p.Ala405Thr) c.1420G>A (p.Ala474Thr) n.479-21743C>T n.563+22577C>T c.1438G>A (p.Ala480Thr) | |
4 | g.47937282A>C | CA356826648 | CNGA1,NIPAL1 | c.1200T>G (p.Asn400Lys) c.1212T>G (p.Asn404Lys) c.1419T>G (p.Asn473Lys) n.479-21742A>C n.563+22578A>C c.1437T>G (p.Asn479Lys) | |
4 | g.47937282A>G | CA439404302 | CNGA1,NIPAL1 | c.1200T>C (p.Asn400=) c.1212T>C (p.Asn404=) c.1419T>C (p.Asn473=) n.479-21742A>G n.563+22578A>G c.1437T>C (p.Asn479=) | |
4 | g.47937282A>T | CA356826651 | CNGA1,NIPAL1 | c.1200T>A (p.Asn400Lys) c.1212T>A (p.Asn404Lys) c.1419T>A (p.Asn473Lys) n.479-21742A>T n.563+22578A>T c.1437T>A (p.Asn479Lys) | |
4 | g.47937283T>A | CA356826654 | CNGA1,NIPAL1 | c.1199A>T (p.Asn400Ile) c.1211A>T (p.Asn404Ile) c.1418A>T (p.Asn473Ile) n.479-21741T>A n.563+22579T>A c.1436A>T (p.Asn479Ile) | |
4 | g.47937283T>C | CA356826656 | CNGA1,NIPAL1 | c.1199A>G (p.Asn400Ser) c.1211A>G (p.Asn404Ser) c.1418A>G (p.Asn473Ser) n.479-21741T>C n.563+22579T>C c.1436A>G (p.Asn479Ser) | |
4 | g.47937283T>G | CA356826658 | CNGA1,NIPAL1 | c.1199A>C (p.Asn400Thr) c.1211A>C (p.Asn404Thr) c.1418A>C (p.Asn473Thr) n.479-21741T>G n.563+22579T>G c.1436A>C (p.Asn479Thr) | |
4 | g.47937284T>A | CA356826661 | CNGA1,NIPAL1 | c.1198A>T (p.Asn400Tyr) c.1210A>T (p.Asn404Tyr) c.1417A>T (p.Asn473Tyr) n.479-21740T>A n.563+22580T>A c.1435A>T (p.Asn479Tyr) | |
4 | g.47937284T>C | CA356826664 | CNGA1,NIPAL1 | c.1198A>G (p.Asn400Asp) c.1210A>G (p.Asn404Asp) c.1417A>G (p.Asn473Asp) n.479-21740T>C n.563+22580T>C c.1435A>G (p.Asn479Asp) | |
4 | g.47937284T>G | CA356826662 | CNGA1,NIPAL1 | c.1198A>C (p.Asn400His) c.1210A>C (p.Asn404His) c.1417A>C (p.Asn473His) n.479-21740T>G n.563+22580T>G c.1435A>C (p.Asn479His) | |
4 | g.47937288_47937299del | CA2761332301 | CNGA1,NIPAL1 | c.1187_1198del (p.Ile396_Met399del) c.1199_1210del (p.Ile400_Met403del) c.1406_1417del (p.Ile469_Met472del) n.479-21736_479-21725del n.563+22584_563+22595del c.1424_1435del (p.Ile475_Met478del) | |
4 | g.47937285C>A | CA356826667 | CNGA1,NIPAL1 | c.1197G>T (p.Met399Ile) c.1209G>T (p.Met403Ile) c.1416G>T (p.Met472Ile) n.479-21739C>A n.563+22581C>A c.1434G>T (p.Met478Ile) | |
4 | g.47937285C>G | CA356826672 | CNGA1,NIPAL1 | c.1197G>C (p.Met399Ile) c.1209G>C (p.Met403Ile) c.1416G>C (p.Met472Ile) n.479-21739C>G n.563+22581C>G c.1434G>C (p.Met478Ile) | |
4 | g.47937285C>T | CA356826670 | CNGA1,NIPAL1 | c.1197G>A (p.Met399Ile) c.1209G>A (p.Met403Ile) c.1416G>A (p.Met472Ile) n.479-21739C>T n.563+22581C>T c.1434G>A (p.Met478Ile) | COSMIC COSMIC |
4 | g.47937286A>C | CA356826675 | CNGA1,NIPAL1 | c.1196T>G (p.Met399Arg) c.1208T>G (p.Met403Arg) c.1415T>G (p.Met472Arg) n.479-21738A>C n.563+22582A>C c.1433T>G (p.Met478Arg) | |
4 | g.47937286A>G | CA356826677 | CNGA1,NIPAL1 | c.1196T>C (p.Met399Thr) c.1208T>C (p.Met403Thr) c.1415T>C (p.Met472Thr) n.479-21738A>G n.563+22582A>G c.1433T>C (p.Met478Thr) | |
4 | g.47937286A>T | CA356826680 | CNGA1,NIPAL1 | c.1196T>A (p.Met399Lys) c.1208T>A (p.Met403Lys) c.1415T>A (p.Met472Lys) n.479-21738A>T n.563+22582A>T c.1433T>A (p.Met478Lys) | |
4 | g.47937287T>A | CA356826683 | CNGA1,NIPAL1 | c.1195A>T (p.Met399Leu) c.1207A>T (p.Met403Leu) c.1414A>T (p.Met472Leu) n.479-21737T>A n.563+22583T>A c.1432A>T (p.Met478Leu) | |
4 | g.47937287T>C | CA2911114 | CNGA1,NIPAL1 | c.1195A>G (p.Met399Val) c.1207A>G (p.Met403Val) c.1414A>G (p.Met472Val) n.479-21737T>C n.563+22583T>C c.1432A>G (p.Met478Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47937287T>G | CA356826686 | CNGA1,NIPAL1 | c.1195A>C (p.Met399Leu) c.1207A>C (p.Met403Leu) c.1414A>C (p.Met472Leu) n.479-21737T>G n.563+22583T>G c.1432A>C (p.Met478Leu) | |
4 | g.47937287T= | CA1455551910 | CNGA1,NIPAL1 | c.1195A= (p.Met399=) c.1207A= (p.Met403=) c.1414A= (p.Met472=) n.479-21737T= n.563+22583T= c.1432A= (p.Met478=) | |
4 | g.47937288G>A | CA439404307 | CNGA1,NIPAL1 | c.1194C>T (p.Asn398=) c.1206C>T (p.Asn402=) c.1413C>T (p.Asn471=) n.479-21736G>A n.563+22584G>A c.1431C>T (p.Asn477=) | |
4 | g.47937288G>C | CA356826689 | CNGA1,NIPAL1 | c.1194C>G (p.Asn398Lys) c.1206C>G (p.Asn402Lys) c.1413C>G (p.Asn471Lys) n.479-21736G>C n.563+22584G>C c.1431C>G (p.Asn477Lys) | |
4 | g.47937288G>T | CA356826690 | CNGA1,NIPAL1 | c.1194C>A (p.Asn398Lys) c.1206C>A (p.Asn402Lys) c.1413C>A (p.Asn471Lys) n.479-21736G>T n.563+22584G>T c.1431C>A (p.Asn477Lys) | |
4 | g.47937289T>A | CA356826694 | CNGA1,NIPAL1 | c.1193A>T (p.Asn398Ile) c.1205A>T (p.Asn402Ile) c.1412A>T (p.Asn471Ile) n.479-21735T>A n.563+22585T>A c.1430A>T (p.Asn477Ile) | |
4 | g.47937289T>C | CA356826695 | CNGA1,NIPAL1 | c.1193A>G (p.Asn398Ser) c.1205A>G (p.Asn402Ser) c.1412A>G (p.Asn471Ser) n.479-21735T>C n.563+22585T>C c.1430A>G (p.Asn477Ser) | |
4 | g.47937289T>G | CA356826698 | CNGA1,NIPAL1 | c.1193A>C (p.Asn398Thr) c.1205A>C (p.Asn402Thr) c.1412A>C (p.Asn471Thr) n.479-21735T>G n.563+22585T>G c.1430A>C (p.Asn477Thr) | |
4 | g.47937290T>A | CA356826703 | CNGA1,NIPAL1 | c.1192A>T (p.Asn398Tyr) c.1204A>T (p.Asn402Tyr) c.1411A>T (p.Asn471Tyr) n.479-21734T>A n.563+22586T>A c.1429A>T (p.Asn477Tyr) | |
4 | g.47937290T>C | CA356826700 | CNGA1,NIPAL1 | c.1192A>G (p.Asn398Asp) c.1204A>G (p.Asn402Asp) c.1411A>G (p.Asn471Asp) n.479-21734T>C n.563+22586T>C c.1429A>G (p.Asn477Asp) | |
4 | g.47937290T>G | CA2911115 | CNGA1,NIPAL1 | c.1192A>C (p.Asn398His) c.1204A>C (p.Asn402His) c.1411A>C (p.Asn471His) n.479-21734T>G n.563+22586T>G c.1429A>C (p.Asn477His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47937290T= | CA1455551911 | CNGA1,NIPAL1 | c.1192A= (p.Asn398=) c.1204A= (p.Asn402=) c.1411A= (p.Asn471=) n.479-21734T= n.563+22586T= c.1429A= (p.Asn477=) | |
4 | g.47937291G>A | CA439404310 | CNGA1,NIPAL1 | c.1191C>T (p.Ser397=) c.1203C>T (p.Ser401=) c.1410C>T (p.Ser470=) n.479-21733G>A n.563+22587G>A c.1428C>T (p.Ser476=) | |
4 | g.47937291G>C | CA439404312 | CNGA1,NIPAL1 | c.1191C>G (p.Ser397=) c.1203C>G (p.Ser401=) c.1410C>G (p.Ser470=) n.479-21733G>C n.563+22587G>C c.1428C>G (p.Ser476=) | |
4 | g.47937291G>T | CA439404313 | CNGA1,NIPAL1 | c.1191C>A (p.Ser397=) c.1203C>A (p.Ser401=) c.1410C>A (p.Ser470=) n.479-21733G>T n.563+22587G>T c.1428C>A (p.Ser476=) | |
4 | g.47937292G>A | CA356826707 | CNGA1,NIPAL1 | c.1190C>T (p.Ser397Phe) c.1202C>T (p.Ser401Phe) c.1409C>T (p.Ser470Phe) n.479-21732G>A n.563+22588G>A c.1427C>T (p.Ser476Phe) | |
4 | g.47937292G>C | CA356826709 | CNGA1,NIPAL1 | c.1190C>G (p.Ser397Cys) c.1202C>G (p.Ser401Cys) c.1409C>G (p.Ser470Cys) n.479-21732G>C n.563+22588G>C c.1427C>G (p.Ser476Cys) | |
4 | g.47937292G>T | CA356826712 | CNGA1,NIPAL1 | c.1190C>A (p.Ser397Tyr) c.1202C>A (p.Ser401Tyr) c.1409C>A (p.Ser470Tyr) n.479-21732G>T n.563+22588G>T c.1427C>A (p.Ser476Tyr) | |
4 | g.47937293A>C | CA356826715 | CNGA1,NIPAL1 | c.1189T>G (p.Ser397Ala) c.1201T>G (p.Ser401Ala) c.1408T>G (p.Ser470Ala) n.479-21731A>C n.563+22589A>C c.1426T>G (p.Ser476Ala) | |
4 | g.47937293A>G | CA356826716 | CNGA1,NIPAL1 | c.1189T>C (p.Ser397Pro) c.1201T>C (p.Ser401Pro) c.1408T>C (p.Ser470Pro) n.479-21731A>G n.563+22589A>G c.1426T>C (p.Ser476Pro) | |
4 | g.47937293A>T | CA356826718 | CNGA1,NIPAL1 | c.1189T>A (p.Ser397Thr) c.1201T>A (p.Ser401Thr) c.1408T>A (p.Ser470Thr) n.479-21731A>T n.563+22589A>T c.1426T>A (p.Ser476Thr) | |
4 | g.47937294A>C | CA356826720 | CNGA1,NIPAL1 | c.1188T>G (p.Ile396Met) c.1200T>G (p.Ile400Met) c.1407T>G (p.Ile469Met) n.479-21730A>C n.563+22590A>C c.1425T>G (p.Ile475Met) | |
4 | g.47937294A>G | CA439404316 | CNGA1,NIPAL1 | c.1188T>C (p.Ile396=) c.1200T>C (p.Ile400=) c.1407T>C (p.Ile469=) n.479-21730A>G n.563+22590A>G c.1425T>C (p.Ile475=) | |
4 | g.47937294A>T | CA439404314 | CNGA1,NIPAL1 | c.1188T>A (p.Ile396=) c.1200T>A (p.Ile400=) c.1407T>A (p.Ile469=) n.479-21730A>T n.563+22590A>T c.1425T>A (p.Ile475=) | |
4 | g.47937295A>C | CA356826723 | CNGA1,NIPAL1 | c.1187T>G (p.Ile396Ser) c.1199T>G (p.Ile400Ser) c.1406T>G (p.Ile469Ser) n.479-21729A>C n.563+22591A>C c.1424T>G (p.Ile475Ser) | |
4 | g.47937295A>G | CA356826725 | CNGA1,NIPAL1 | c.1187T>C (p.Ile396Thr) c.1199T>C (p.Ile400Thr) c.1406T>C (p.Ile469Thr) n.479-21729A>G n.563+22591A>G c.1424T>C (p.Ile475Thr) | ClinVar |
4 | g.47937295A>T | CA356826728 | CNGA1,NIPAL1 | c.1187T>A (p.Ile396Asn) c.1199T>A (p.Ile400Asn) c.1406T>A (p.Ile469Asn) n.479-21729A>T n.563+22591A>T c.1424T>A (p.Ile475Asn) | |
4 | g.47937296T>A | CA356826733 | CNGA1,NIPAL1 | c.1186A>T (p.Ile396Phe) c.1198A>T (p.Ile400Phe) c.1405A>T (p.Ile469Phe) n.479-21728T>A n.563+22592T>A c.1423A>T (p.Ile475Phe) | |
4 | g.47937296T>C | CA356826734 | CNGA1,NIPAL1 | c.1186A>G (p.Ile396Val) c.1198A>G (p.Ile400Val) c.1405A>G (p.Ile469Val) n.479-21728T>C n.563+22592T>C c.1423A>G (p.Ile475Val) | dbSNP |
4 | g.47937296T>G | CA356826731 | CNGA1,NIPAL1 | c.1186A>C (p.Ile396Leu) c.1198A>C (p.Ile400Leu) c.1405A>C (p.Ile469Leu) n.479-21728T>G n.563+22592T>G c.1423A>C (p.Ile475Leu) | COSMIC |
4 | g.47937296T= | CA1455551912 | CNGA1,NIPAL1 | c.1186A= (p.Ile396=) c.1198A= (p.Ile400=) c.1405A= (p.Ile469=) n.479-21728T= n.563+22592T= c.1423A= (p.Ile475=) | |
4 | g.47937297C>A | CA356826738 | CNGA1,NIPAL1 | c.1185G>T (p.Met395Ile) c.1197G>T (p.Met399Ile) c.1404G>T (p.Met468Ile) n.479-21727C>A n.563+22593C>A c.1422G>T (p.Met474Ile) | |
4 | g.47937297C= | CA1455551913 | CNGA1,NIPAL1 | c.1185G= (p.Met395=) c.1197G= (p.Met399=) c.1404G= (p.Met468=) n.479-21727C= n.563+22593C= c.1422G= (p.Met474=) | |
4 | g.47937297C>G | CA356826740 | CNGA1,NIPAL1 | c.1185G>C (p.Met395Ile) c.1197G>C (p.Met399Ile) c.1404G>C (p.Met468Ile) n.479-21727C>G n.563+22593C>G c.1422G>C (p.Met474Ile) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47937297C>T | CA356826742 | CNGA1,NIPAL1 | c.1185G>A (p.Met395Ile) c.1197G>A (p.Met399Ile) c.1404G>A (p.Met468Ile) n.479-21727C>T n.563+22593C>T c.1422G>A (p.Met474Ile) | COSMIC COSMIC |
4 | g.47937298A= | CA1455551914 | CNGA1,NIPAL1 | c.1184T= (p.Met395=) c.1196T= (p.Met399=) c.1403T= (p.Met468=) n.479-21726A= n.563+22594A= c.1421T= (p.Met474=) | |
4 | g.47937298A>C | CA356826745 | CNGA1,NIPAL1 | c.1184T>G (p.Met395Arg) c.1196T>G (p.Met399Arg) c.1403T>G (p.Met468Arg) n.479-21726A>C n.563+22594A>C c.1421T>G (p.Met474Arg) | |
4 | g.47937298A>G | CA356826747 | CNGA1,NIPAL1 | c.1184T>C (p.Met395Thr) c.1196T>C (p.Met399Thr) c.1403T>C (p.Met468Thr) n.479-21726A>G n.563+22594A>G c.1421T>C (p.Met474Thr) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47937298A>T | CA356826748 | CNGA1,NIPAL1 | c.1184T>A (p.Met395Lys) c.1196T>A (p.Met399Lys) c.1403T>A (p.Met468Lys) n.479-21726A>T n.563+22594A>T c.1421T>A (p.Met474Lys) | dbSNP |
4 | g.47937299T>A | CA356826751 | CNGA1,NIPAL1 | c.1183A>T (p.Met395Leu) c.1195A>T (p.Met399Leu) c.1402A>T (p.Met468Leu) n.479-21725T>A n.563+22595T>A c.1420A>T (p.Met474Leu) | |
4 | g.47937299T>C | CA356826753 | CNGA1,NIPAL1 | c.1183A>G (p.Met395Val) c.1195A>G (p.Met399Val) c.1402A>G (p.Met468Val) n.479-21725T>C n.563+22595T>C c.1420A>G (p.Met474Val) | |
4 | g.47937299T>G | CA356826755 | CNGA1,NIPAL1 | c.1183A>C (p.Met395Leu) c.1195A>C (p.Met399Leu) c.1402A>C (p.Met468Leu) n.479-21725T>G n.563+22595T>G c.1420A>C (p.Met474Leu) | |
4 | g.47937300A>C | CA439404321 | CNGA1,NIPAL1 | c.1182T>G (p.Ser394=) c.1194T>G (p.Ser398=) c.1401T>G (p.Ser467=) n.479-21724A>C n.563+22596A>C c.1419T>G (p.Ser473=) | |
4 | g.47937300A>G | CA439404323 | CNGA1,NIPAL1 | c.1182T>C (p.Ser394=) c.1194T>C (p.Ser398=) c.1401T>C (p.Ser467=) n.479-21724A>G n.563+22596A>G c.1419T>C (p.Ser473=) | |
4 | g.47937300A>T | CA439404322 | CNGA1,NIPAL1 | c.1182T>A (p.Ser394=) c.1194T>A (p.Ser398=) c.1401T>A (p.Ser467=) n.479-21724A>T n.563+22596A>T c.1419T>A (p.Ser473=) | |
4 | g.47937301G>A | CA356826757 | CNGA1,NIPAL1 | c.1181C>T (p.Ser394Phe) c.1193C>T (p.Ser398Phe) c.1400C>T (p.Ser467Phe) n.479-21723G>A n.563+22597G>A c.1418C>T (p.Ser473Phe) | gnomAD v4 |
4 | g.47937301G>C | CA356826759 | CNGA1,NIPAL1 | c.1181C>G (p.Ser394Cys) c.1193C>G (p.Ser398Cys) c.1400C>G (p.Ser467Cys) n.479-21723G>C n.563+22597G>C c.1418C>G (p.Ser473Cys) | |
4 | g.47937301G>T | CA356826761 | CNGA1,NIPAL1 | c.1181C>A (p.Ser394Tyr) c.1193C>A (p.Ser398Tyr) c.1400C>A (p.Ser467Tyr) n.479-21723G>T n.563+22597G>T c.1418C>A (p.Ser473Tyr) | |
4 | g.47937302A= | CA1455551915 | CNGA1,NIPAL1 | c.1180T= (p.Ser394=) c.1192T= (p.Ser398=) c.1399T= (p.Ser467=) n.479-21722A= n.563+22598A= c.1417T= (p.Ser473=) | |
4 | g.47937302A>C | CA356826767 | CNGA1,NIPAL1 | c.1180T>G (p.Ser394Ala) c.1192T>G (p.Ser398Ala) c.1399T>G (p.Ser467Ala) n.479-21722A>C n.563+22598A>C c.1417T>G (p.Ser473Ala) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47937302A>G | CA356826764 | CNGA1,NIPAL1 | c.1180T>C (p.Ser394Pro) c.1192T>C (p.Ser398Pro) c.1399T>C (p.Ser467Pro) n.479-21722A>G n.563+22598A>G c.1417T>C (p.Ser473Pro) | |
4 | g.47937302A>T | CA356826766 | CNGA1,NIPAL1 | c.1180T>A (p.Ser394Thr) c.1192T>A (p.Ser398Thr) c.1399T>A (p.Ser467Thr) n.479-21722A>T n.563+22598A>T c.1417T>A (p.Ser473Thr) | |
4 | g.47937303A>C | CA439404325 | CNGA1,NIPAL1 | c.1179T>G (p.Gly393=) c.1191T>G (p.Gly397=) c.1398T>G (p.Gly466=) n.479-21721A>C n.563+22599A>C c.1416T>G (p.Gly472=) | |
4 | g.47937303A>G | CA439404326 | CNGA1,NIPAL1 | c.1179T>C (p.Gly393=) c.1191T>C (p.Gly397=) c.1398T>C (p.Gly466=) n.479-21721A>G n.563+22599A>G c.1416T>C (p.Gly472=) | |
4 | g.47937303A>T | CA439404327 | CNGA1,NIPAL1 | c.1179T>A (p.Gly393=) c.1191T>A (p.Gly397=) c.1398T>A (p.Gly466=) n.479-21721A>T n.563+22599A>T c.1416T>A (p.Gly472=) | |
4 | g.47937304C>A | CA2911116 | CNGA1,NIPAL1 | c.1178G>T (p.Gly393Val) c.1190G>T (p.Gly397Val) c.1397G>T (p.Gly466Val) n.479-21720C>A n.563+22600C>A c.1415G>T (p.Gly472Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
4 | g.47937304C= | CA1455551916 | CNGA1,NIPAL1 | c.1178G= (p.Gly393=) c.1190G= (p.Gly397=) c.1397G= (p.Gly466=) n.479-21720C= n.563+22600C= c.1415G= (p.Gly472=) | |
4 | g.47937304C>G | CA356826771 | CNGA1,NIPAL1 | c.1178G>C (p.Gly393Ala) c.1190G>C (p.Gly397Ala) c.1397G>C (p.Gly466Ala) n.479-21720C>G n.563+22600C>G c.1415G>C (p.Gly472Ala) | |
4 | g.47937304C>T | CA356826774 | CNGA1,NIPAL1 | c.1178G>A (p.Gly393Asp) c.1190G>A (p.Gly397Asp) c.1397G>A (p.Gly466Asp) n.479-21720C>T n.563+22600C>T c.1415G>A (p.Gly472Asp) | |
4 | g.47937305del | CA2706089506 | CNGA1,NIPAL1 | c.1178del (p.Gly393ValfsTer3) c.1190del (p.Gly397ValfsTer3) c.1397del (p.Gly466ValfsTer3) n.479-21719del n.563+22601del c.1415del (p.Gly472ValfsTer3) | dbSNP |
4 | g.47937305C>A | CA356826777 | CNGA1,NIPAL1 | c.1177G>T (p.Gly393Cys) c.1189G>T (p.Gly397Cys) c.1396G>T (p.Gly466Cys) n.479-21719C>A n.563+22601C>A c.1414G>T (p.Gly472Cys) | |
4 | g.47937305C>G | CA356826778 | CNGA1,NIPAL1 | c.1177G>C (p.Gly393Arg) c.1189G>C (p.Gly397Arg) c.1396G>C (p.Gly466Arg) n.479-21719C>G n.563+22601C>G c.1414G>C (p.Gly472Arg) | |
4 | g.47937305C>T | CA356826781 | CNGA1,NIPAL1 | c.1177G>A (p.Gly393Ser) c.1189G>A (p.Gly397Ser) c.1396G>A (p.Gly466Ser) n.479-21719C>T n.563+22601C>T c.1414G>A (p.Gly472Ser) | |
4 | g.47937306T>A | CA439404329 | CNGA1,NIPAL1 | c.1176A>T (p.Ile392=) c.1188A>T (p.Ile396=) c.1395A>T (p.Ile465=) n.479-21718T>A n.563+22602T>A c.1413A>T (p.Ile471=) | |
4 | g.47937306T>C | CA356826782 | CNGA1,NIPAL1 | c.1176A>G (p.Ile392Met) c.1188A>G (p.Ile396Met) c.1395A>G (p.Ile465Met) n.479-21718T>C n.563+22602T>C c.1413A>G (p.Ile471Met) | gnomAD v4 |
4 | g.47937306T>G | CA439404330 | CNGA1,NIPAL1 | c.1176A>C (p.Ile392=) c.1188A>C (p.Ile396=) c.1395A>C (p.Ile465=) n.479-21718T>G n.563+22602T>G c.1413A>C (p.Ile471=) | |
4 | g.47937307A= | CA1455551917 | CNGA1,NIPAL1 | c.1175T= (p.Ile392=) c.1187T= (p.Ile396=) c.1394T= (p.Ile465=) n.479-21717A= n.563+22603A= c.1412T= (p.Ile471=) | |
4 | g.47937307A>C | CA356826783 | CNGA1,NIPAL1 | c.1175T>G (p.Ile392Arg) c.1187T>G (p.Ile396Arg) c.1394T>G (p.Ile465Arg) n.479-21717A>C n.563+22603A>C c.1412T>G (p.Ile471Arg) | |
4 | g.47937307A>G | CA356826785 | CNGA1,NIPAL1 | c.1175T>C (p.Ile392Thr) c.1187T>C (p.Ile396Thr) c.1394T>C (p.Ile465Thr) n.479-21717A>G n.563+22603A>G c.1412T>C (p.Ile471Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.47937307A>T | CA356826787 | CNGA1,NIPAL1 | c.1175T>A (p.Ile392Lys) c.1187T>A (p.Ile396Lys) c.1394T>A (p.Ile465Lys) n.479-21717A>T n.563+22603A>T c.1412T>A (p.Ile471Lys) | |
4 | g.47937308T>A | CA356826790 | CNGA1,NIPAL1 | c.1174A>T (p.Ile392Leu) c.1186A>T (p.Ile396Leu) c.1393A>T (p.Ile465Leu) n.479-21716T>A n.563+22604T>A c.1411A>T (p.Ile471Leu) | |
4 | g.47937308T>C | CA2911117 | CNGA1,NIPAL1 | c.1174A>G (p.Ile392Val) c.1186A>G (p.Ile396Val) c.1393A>G (p.Ile465Val) n.479-21716T>C n.563+22604T>C c.1411A>G (p.Ile471Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47937308T>G | CA356826794 | CNGA1,NIPAL1 | c.1174A>C (p.Ile392Leu) c.1186A>C (p.Ile396Leu) c.1393A>C (p.Ile465Leu) n.479-21716T>G n.563+22604T>G c.1411A>C (p.Ile471Leu) | |
4 | g.47937308T= | CA1455551918 | CNGA1,NIPAL1 | c.1174A= (p.Ile392=) c.1186A= (p.Ile396=) c.1393A= (p.Ile465=) n.479-21716T= n.563+22604T= c.1411A= (p.Ile471=) | |
4 | g.47937309G>A | CA439404334 | CNGA1,NIPAL1 | c.1173C>T (p.Asn391=) c.1185C>T (p.Asn395=) c.1392C>T (p.Asn464=) n.479-21715G>A n.563+22605G>A c.1410C>T (p.Asn470=) | |
4 | g.47937309G>C | CA356826798 | CNGA1,NIPAL1 | c.1173C>G (p.Asn391Lys) c.1185C>G (p.Asn395Lys) c.1392C>G (p.Asn464Lys) n.479-21715G>C n.563+22605G>C c.1410C>G (p.Asn470Lys) | |
4 | g.47937309G>T | CA356826797 | CNGA1,NIPAL1 | c.1173C>A (p.Asn391Lys) c.1185C>A (p.Asn395Lys) c.1392C>A (p.Asn464Lys) n.479-21715G>T n.563+22605G>T c.1410C>A (p.Asn470Lys) | |
4 | g.47937310T>A | CA356826802 | CNGA1,NIPAL1 | c.1172A>T (p.Asn391Ile) c.1184A>T (p.Asn395Ile) c.1391A>T (p.Asn464Ile) n.479-21714T>A n.563+22606T>A c.1409A>T (p.Asn470Ile) | |
4 | g.47937310T>C | CA356826807 | CNGA1,NIPAL1 | c.1172A>G (p.Asn391Ser) c.1184A>G (p.Asn395Ser) c.1391A>G (p.Asn464Ser) n.479-21714T>C n.563+22606T>C c.1409A>G (p.Asn470Ser) | |
4 | g.47937310T>G | CA356826804 | CNGA1,NIPAL1 | c.1172A>C (p.Asn391Thr) c.1184A>C (p.Asn395Thr) c.1391A>C (p.Asn464Thr) n.479-21714T>G n.563+22606T>G c.1409A>C (p.Asn470Thr) | |
4 | g.47937311T>A | CA356826809 | CNGA1,NIPAL1 | c.1171A>T (p.Asn391Tyr) c.1183A>T (p.Asn395Tyr) c.1390A>T (p.Asn464Tyr) n.479-21713T>A n.563+22607T>A c.1408A>T (p.Asn470Tyr) | |
4 | g.47937311T>C | CA356826813 | CNGA1,NIPAL1 | c.1171A>G (p.Asn391Asp) c.1183A>G (p.Asn395Asp) c.1390A>G (p.Asn464Asp) n.479-21713T>C n.563+22607T>C c.1408A>G (p.Asn470Asp) | |
4 | g.47937311T>G | CA356826812 | CNGA1,NIPAL1 | c.1171A>C (p.Asn391His) c.1183A>C (p.Asn395His) c.1390A>C (p.Asn464His) n.479-21713T>G n.563+22607T>G c.1408A>C (p.Asn470His) |