Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.47937149C>A | CA356826004 | CNGA1,NIPAL1 | c.1333G>T (p.Asp445Tyr) c.1345G>T (p.Asp449Tyr) c.1552G>T (p.Asp518Tyr) n.479-21875C>A n.563+22445C>A c.1570G>T (p.Asp524Tyr) | |
4 | g.47937149C>G | CA356826002 | CNGA1,NIPAL1 | c.1333G>C (p.Asp445His) c.1345G>C (p.Asp449His) c.1552G>C (p.Asp518His) n.479-21875C>G n.563+22445C>G c.1570G>C (p.Asp524His) | |
4 | g.47937149C>T | CA356826003 | CNGA1,NIPAL1 | c.1333G>A (p.Asp445Asn) c.1345G>A (p.Asp449Asn) c.1552G>A (p.Asp518Asn) n.479-21875C>T n.563+22445C>T c.1570G>A (p.Asp524Asn) | ClinVar |
4 | g.47937150A>C | CA439404027 | CNGA1,NIPAL1 | c.1332T>G (p.Val444=) c.1344T>G (p.Val448=) c.1551T>G (p.Val517=) n.479-21874A>C n.563+22446A>C c.1569T>G (p.Val523=) | |
4 | g.47937150A>G | CA439404028 | CNGA1,NIPAL1 | c.1332T>C (p.Val444=) c.1344T>C (p.Val448=) c.1551T>C (p.Val517=) n.479-21874A>G n.563+22446A>G c.1569T>C (p.Val523=) | |
4 | g.47937150A>T | CA439404029 | CNGA1,NIPAL1 | c.1332T>A (p.Val444=) c.1344T>A (p.Val448=) c.1551T>A (p.Val517=) n.479-21874A>T n.563+22446A>T c.1569T>A (p.Val523=) | |
4 | g.47937151A= | CA1455551855 | CNGA1,NIPAL1 | c.1331T= (p.Val444=) c.1343T= (p.Val448=) c.1550T= (p.Val517=) n.479-21873A= n.563+22447A= c.1568T= (p.Val523=) | |
4 | g.47937151A>C | CA356826005 | CNGA1,NIPAL1 | c.1331T>G (p.Val444Gly) c.1343T>G (p.Val448Gly) c.1550T>G (p.Val517Gly) n.479-21873A>C n.563+22447A>C c.1568T>G (p.Val523Gly) | |
4 | g.47937151A>G | CA356826006 | CNGA1,NIPAL1 | c.1331T>C (p.Val444Ala) c.1343T>C (p.Val448Ala) c.1550T>C (p.Val517Ala) n.479-21873A>G n.563+22447A>G c.1568T>C (p.Val523Ala) | dbSNP gnomAD v4 |
4 | g.47937151A>T | CA356826007 | CNGA1,NIPAL1 | c.1331T>A (p.Val444Asp) c.1343T>A (p.Val448Asp) c.1550T>A (p.Val517Asp) n.479-21873A>T n.563+22447A>T c.1568T>A (p.Val523Asp) | |
4 | g.47937152C>A | CA356826008 | CNGA1,NIPAL1 | c.1330G>T (p.Val444Phe) c.1342G>T (p.Val448Phe) c.1549G>T (p.Val517Phe) n.479-21872C>A n.563+22448C>A c.1567G>T (p.Val523Phe) | COSMIC |
4 | g.47937152C= | CA1455551856 | CNGA1,NIPAL1 | c.1330G= (p.Val444=) c.1342G= (p.Val448=) c.1549G= (p.Val517=) n.479-21872C= n.563+22448C= c.1567G= (p.Val523=) | |
4 | g.47937152C>G | CA96688731 | CNGA1,NIPAL1 | c.1330G>C (p.Val444Leu) c.1342G>C (p.Val448Leu) c.1549G>C (p.Val517Leu) n.479-21872C>G n.563+22448C>G c.1567G>C (p.Val523Leu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47937152C>T | CA2911095 | CNGA1,NIPAL1 | c.1330G>A (p.Val444Ile) c.1342G>A (p.Val448Ile) c.1549G>A (p.Val517Ile) n.479-21872C>T n.563+22448C>T c.1567G>A (p.Val523Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47937153T>A | CA439404032 | CNGA1,NIPAL1 | c.1329A>T (p.Thr443=) c.1341A>T (p.Thr447=) c.1548A>T (p.Thr516=) n.479-21871T>A n.563+22449T>A c.1566A>T (p.Thr522=) | |
4 | g.47937153T>C | CA439404034 | CNGA1,NIPAL1 | c.1329A>G (p.Thr443=) c.1341A>G (p.Thr447=) c.1548A>G (p.Thr516=) n.479-21871T>C n.563+22449T>C c.1566A>G (p.Thr522=) | |
4 | g.47937153T>G | CA439404033 | CNGA1,NIPAL1 | c.1329A>C (p.Thr443=) c.1341A>C (p.Thr447=) c.1548A>C (p.Thr516=) n.479-21871T>G n.563+22449T>G c.1566A>C (p.Thr522=) | |
4 | g.47937153_47937154delinsTG | CA1455551857 | CNGA1,NIPAL1 | c.1328_1329delinsCA (p.Thr443=) c.1340_1341delinsCA (p.Thr447=) c.1547_1548delinsCA (p.Thr516=) n.479-21871_479-21870delinsTG n.563+22449_563+22450delinsTG c.1565_1566delinsCA (p.Thr522=) | |
4 | g.47937154del | CA795526961 | CNGA1,NIPAL1 | c.1328del (p.Thr443LysfsTer8) c.1340del (p.Thr447LysfsTer8) c.1547del (p.Thr516LysfsTer8) n.479-21870del n.563+22450del c.1565del (p.Thr522LysfsTer8) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.47937154G>A | CA356826010 | CNGA1,NIPAL1 | c.1328C>T (p.Thr443Ile) c.1340C>T (p.Thr447Ile) c.1547C>T (p.Thr516Ile) n.479-21870G>A n.563+22450G>A c.1565C>T (p.Thr522Ile) | |
4 | g.47937154G>C | CA2911097 | CNGA1,NIPAL1 | c.1328C>G (p.Thr443Arg) c.1340C>G (p.Thr447Arg) c.1547C>G (p.Thr516Arg) n.479-21870G>C n.563+22450G>C c.1565C>G (p.Thr522Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47937154G= | CA1455551859 | CNGA1,NIPAL1 | c.1328C= (p.Thr443=) c.1340C= (p.Thr447=) c.1547C= (p.Thr516=) n.479-21870G= n.563+22450G= c.1565C= (p.Thr522=) | |
4 | g.47937154G>T | CA356826009 | CNGA1,NIPAL1 | c.1328C>A (p.Thr443Lys) c.1340C>A (p.Thr447Lys) c.1547C>A (p.Thr516Lys) n.479-21870G>T n.563+22450G>T c.1565C>A (p.Thr522Lys) | |
4 | g.47937154_47937155delinsGT | CA1455551858 | CNGA1,NIPAL1 | c.1327_1328delinsAC (p.Thr443=) c.1339_1340delinsAC (p.Thr447=) c.1546_1547delinsAC (p.Thr516=) n.479-21870_479-21869delinsGT n.563+22450_563+22451delinsGT c.1564_1565delinsAC (p.Thr522=) | |
4 | g.47937154_47937155insC | CA2670552350 | CNGA1,NIPAL1 | c.1327_1328insG (p.Thr443SerfsTer3) c.1339_1340insG (p.Thr447SerfsTer3) c.1546_1547insG (p.Thr516SerfsTer3) n.479-21870_479-21869insC n.563+22450_563+22451insC c.1564_1565insG (p.Thr522SerfsTer3) | gnomAD v4 |
4 | g.47937155T>A | CA356826011 | CNGA1,NIPAL1 | c.1327A>T (p.Thr443Ser) c.1339A>T (p.Thr447Ser) c.1546A>T (p.Thr516Ser) n.479-21869T>A n.563+22451T>A c.1564A>T (p.Thr522Ser) | |
4 | g.47937155T>C | CA356826012 | CNGA1,NIPAL1 | c.1327A>G (p.Thr443Ala) c.1339A>G (p.Thr447Ala) c.1546A>G (p.Thr516Ala) n.479-21869T>C n.563+22451T>C c.1564A>G (p.Thr522Ala) | dbSNP |
4 | g.47937155T>G | CA356826013 | CNGA1,NIPAL1 | c.1327A>C (p.Thr443Pro) c.1339A>C (p.Thr447Pro) c.1546A>C (p.Thr516Pro) n.479-21869T>G n.563+22451T>G c.1564A>C (p.Thr522Pro) | |
4 | g.47937161dup | CA2911096 | CNGA1,NIPAL1 | c.1327dup (p.Thr443AsnfsTer3) c.1339dup (p.Thr447AsnfsTer3) c.1546dup (p.Thr516AsnfsTer3) n.479-21863dup n.563+22457dup c.1564dup (p.Thr522AsnfsTer3) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.47937161del | CA439404042 | CNGA1,NIPAL1 | c.1327del (p.Thr443GlnfsTer8) c.1339del (p.Thr447GlnfsTer8) c.1546del (p.Thr516GlnfsTer8) n.479-21863del n.563+22457del c.1564del (p.Thr522GlnfsTer8) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.47937155_47937156insA | CA439404043 | CNGA1,NIPAL1 | c.1326_1327insT (p.Thr443TyrfsTer3) c.1338_1339insT (p.Thr447TyrfsTer3) c.1545_1546insT (p.Thr516TyrfsTer3) n.479-21869_479-21868insA n.563+22451_563+22452insA c.1563_1564insT (p.Thr522TyrfsTer3) | |
4 | g.47937156T>A | CA356826014 | CNGA1,NIPAL1 | c.1326A>T (p.Lys442Asn) c.1338A>T (p.Lys446Asn) c.1545A>T (p.Lys515Asn) n.479-21868T>A n.563+22452T>A c.1563A>T (p.Lys521Asn) | |
4 | g.47937156T>C | CA439404044 | CNGA1,NIPAL1 | c.1326A>G (p.Lys442=) c.1338A>G (p.Lys446=) c.1545A>G (p.Lys515=) n.479-21868T>C n.563+22452T>C c.1563A>G (p.Lys521=) | |
4 | g.47937156T>G | CA356826015 | CNGA1,NIPAL1 | c.1326A>C (p.Lys442Asn) c.1338A>C (p.Lys446Asn) c.1545A>C (p.Lys515Asn) n.479-21868T>G n.563+22452T>G c.1563A>C (p.Lys521Asn) | |
4 | g.47937157T>A | CA356826018 | CNGA1,NIPAL1 | c.1325A>T (p.Lys442Ile) c.1337A>T (p.Lys446Ile) c.1544A>T (p.Lys515Ile) n.479-21867T>A n.563+22453T>A c.1562A>T (p.Lys521Ile) | |
4 | g.47937157T>C | CA356826016 | CNGA1,NIPAL1 | c.1325A>G (p.Lys442Arg) c.1337A>G (p.Lys446Arg) c.1544A>G (p.Lys515Arg) n.479-21867T>C n.563+22453T>C c.1562A>G (p.Lys521Arg) | |
4 | g.47937157T>G | CA356826017 | CNGA1,NIPAL1 | c.1325A>C (p.Lys442Thr) c.1337A>C (p.Lys446Thr) c.1544A>C (p.Lys515Thr) n.479-21867T>G n.563+22453T>G c.1562A>C (p.Lys521Thr) | |
4 | g.47937158T>A | CA356826019 | CNGA1,NIPAL1 | c.1324A>T (p.Lys442Ter) c.1336A>T (p.Lys446Ter) c.1543A>T (p.Lys515Ter) n.479-21866T>A n.563+22454T>A c.1561A>T (p.Lys521Ter) | |
4 | g.47937158T>C | CA356826020 | CNGA1,NIPAL1 | c.1324A>G (p.Lys442Glu) c.1336A>G (p.Lys446Glu) c.1543A>G (p.Lys515Glu) n.479-21866T>C n.563+22454T>C c.1561A>G (p.Lys521Glu) | |
4 | g.47937158T>G | CA356826021 | CNGA1,NIPAL1 | c.1324A>C (p.Lys442Gln) c.1336A>C (p.Lys446Gln) c.1543A>C (p.Lys515Gln) n.479-21866T>G n.563+22454T>G c.1561A>C (p.Lys521Gln) | |
4 | g.47937159T>A | CA356826022 | CNGA1,NIPAL1 | c.1323A>T (p.Lys441Asn) c.1335A>T (p.Lys445Asn) c.1542A>T (p.Lys514Asn) n.479-21865T>A n.563+22455T>A c.1560A>T (p.Lys520Asn) | |
4 | g.47937159T>C | CA439404048 | CNGA1,NIPAL1 | c.1323A>G (p.Lys441=) c.1335A>G (p.Lys445=) c.1542A>G (p.Lys514=) n.479-21865T>C n.563+22455T>C c.1560A>G (p.Lys520=) | |
4 | g.47937159T>G | CA356826023 | CNGA1,NIPAL1 | c.1323A>C (p.Lys441Asn) c.1335A>C (p.Lys445Asn) c.1542A>C (p.Lys514Asn) n.479-21865T>G n.563+22455T>G c.1560A>C (p.Lys520Asn) | |
4 | g.47937160T>A | CA356826026 | CNGA1,NIPAL1 | c.1322A>T (p.Lys441Ile) c.1334A>T (p.Lys445Ile) c.1541A>T (p.Lys514Ile) n.479-21864T>A n.563+22456T>A c.1559A>T (p.Lys520Ile) | |
4 | g.47937160T>C | CA356826024 | CNGA1,NIPAL1 | c.1322A>G (p.Lys441Arg) c.1334A>G (p.Lys445Arg) c.1541A>G (p.Lys514Arg) n.479-21864T>C n.563+22456T>C c.1559A>G (p.Lys520Arg) | |
4 | g.47937160T>G | CA356826025 | CNGA1,NIPAL1 | c.1322A>C (p.Lys441Thr) c.1334A>C (p.Lys445Thr) c.1541A>C (p.Lys514Thr) n.479-21864T>G n.563+22456T>G c.1559A>C (p.Lys520Thr) | |
4 | g.47937161T>A | CA356826027 | CNGA1,NIPAL1 | c.1321A>T (p.Lys441Ter) c.1333A>T (p.Lys445Ter) c.1540A>T (p.Lys514Ter) n.479-21863T>A n.563+22457T>A c.1558A>T (p.Lys520Ter) | |
4 | g.47937161T>C | CA356826028 | CNGA1,NIPAL1 | c.1321A>G (p.Lys441Glu) c.1333A>G (p.Lys445Glu) c.1540A>G (p.Lys514Glu) n.479-21863T>C n.563+22457T>C c.1558A>G (p.Lys520Glu) | |
4 | g.47937161T>G | CA356826029 | CNGA1,NIPAL1 | c.1321A>C (p.Lys441Gln) c.1333A>C (p.Lys445Gln) c.1540A>C (p.Lys514Gln) n.479-21863T>G n.563+22457T>G c.1558A>C (p.Lys520Gln) | |
4 | g.47937162G>A | CA96688776 | CNGA1,NIPAL1 | c.1320C>T (p.Asn440=) c.1332C>T (p.Asn444=) c.1539C>T (p.Asn513=) n.479-21862G>A n.563+22458G>A c.1557C>T (p.Asn519=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47937162G>C | CA356826030 | CNGA1,NIPAL1 | c.1320C>G (p.Asn440Lys) c.1332C>G (p.Asn444Lys) c.1539C>G (p.Asn513Lys) n.479-21862G>C n.563+22458G>C c.1557C>G (p.Asn519Lys) | |
4 | g.47937162G= | CA1455551860 | CNGA1,NIPAL1 | c.1320C= (p.Asn440=) c.1332C= (p.Asn444=) c.1539C= (p.Asn513=) n.479-21862G= n.563+22458G= c.1557C= (p.Asn519=) | |
4 | g.47937162G>T | CA356826031 | CNGA1,NIPAL1 | c.1320C>A (p.Asn440Lys) c.1332C>A (p.Asn444Lys) c.1539C>A (p.Asn513Lys) n.479-21862G>T n.563+22458G>T c.1557C>A (p.Asn519Lys) | gnomAD v4 |
4 | g.47937163T>A | CA356826034 | CNGA1,NIPAL1 | c.1319A>T (p.Asn440Ile) c.1331A>T (p.Asn444Ile) c.1538A>T (p.Asn513Ile) n.479-21861T>A n.563+22459T>A c.1556A>T (p.Asn519Ile) | |
4 | g.47937163T>C | CA356826033 | CNGA1,NIPAL1 | c.1319A>G (p.Asn440Ser) c.1331A>G (p.Asn444Ser) c.1538A>G (p.Asn513Ser) n.479-21861T>C n.563+22459T>C c.1556A>G (p.Asn519Ser) | |
4 | g.47937163T>G | CA356826032 | CNGA1,NIPAL1 | c.1319A>C (p.Asn440Thr) c.1331A>C (p.Asn444Thr) c.1538A>C (p.Asn513Thr) n.479-21861T>G n.563+22459T>G c.1556A>C (p.Asn519Thr) | |
4 | g.47937164T>A | CA356826035 | CNGA1,NIPAL1 | c.1318A>T (p.Asn440Tyr) c.1330A>T (p.Asn444Tyr) c.1537A>T (p.Asn513Tyr) n.479-21860T>A n.563+22460T>A c.1555A>T (p.Asn519Tyr) | |
4 | g.47937164T>C | CA356826036 | CNGA1,NIPAL1 | c.1318A>G (p.Asn440Asp) c.1330A>G (p.Asn444Asp) c.1537A>G (p.Asn513Asp) n.479-21860T>C n.563+22460T>C c.1555A>G (p.Asn519Asp) | |
4 | g.47937164T>G | CA356826037 | CNGA1,NIPAL1 | c.1318A>C (p.Asn440His) c.1330A>C (p.Asn444His) c.1537A>C (p.Asn513His) n.479-21860T>G n.563+22460T>G c.1555A>C (p.Asn519His) | |
4 | g.47937165G>A | CA439404064 | CNGA1,NIPAL1 | c.1317C>T (p.Thr439=) c.1329C>T (p.Thr443=) c.1536C>T (p.Thr512=) n.479-21859G>A n.563+22461G>A c.1554C>T (p.Thr518=) | ClinVar |
4 | g.47937165G>C | CA439404066 | CNGA1,NIPAL1 | c.1317C>G (p.Thr439=) c.1329C>G (p.Thr443=) c.1536C>G (p.Thr512=) n.479-21859G>C n.563+22461G>C c.1554C>G (p.Thr518=) | |
4 | g.47937165G>T | CA439404068 | CNGA1,NIPAL1 | c.1317C>A (p.Thr439=) c.1329C>A (p.Thr443=) c.1536C>A (p.Thr512=) n.479-21859G>T n.563+22461G>T c.1554C>A (p.Thr518=) | |
4 | g.47937166G>A | CA356826038 | CNGA1,NIPAL1 | c.1316C>T (p.Thr439Ile) c.1328C>T (p.Thr443Ile) c.1535C>T (p.Thr512Ile) n.479-21858G>A n.563+22462G>A c.1553C>T (p.Thr518Ile) | |
4 | g.47937166G>C | CA356826039 | CNGA1,NIPAL1 | c.1316C>G (p.Thr439Ser) c.1328C>G (p.Thr443Ser) c.1535C>G (p.Thr512Ser) n.479-21858G>C n.563+22462G>C c.1553C>G (p.Thr518Ser) | |
4 | g.47937166G>T | CA356826040 | CNGA1,NIPAL1 | c.1316C>A (p.Thr439Asn) c.1328C>A (p.Thr443Asn) c.1535C>A (p.Thr512Asn) n.479-21858G>T n.563+22462G>T c.1553C>A (p.Thr518Asn) | |
4 | g.47937167T>A | CA356826041 | CNGA1,NIPAL1 | c.1315A>T (p.Thr439Ser) c.1327A>T (p.Thr443Ser) c.1534A>T (p.Thr512Ser) n.479-21857T>A n.563+22463T>A c.1552A>T (p.Thr518Ser) | |
4 | g.47937167T>C | CA356826043 | CNGA1,NIPAL1 | c.1315A>G (p.Thr439Ala) c.1327A>G (p.Thr443Ala) c.1534A>G (p.Thr512Ala) n.479-21857T>C n.563+22463T>C c.1552A>G (p.Thr518Ala) | |
4 | g.47937167T>G | CA356826042 | CNGA1,NIPAL1 | c.1315A>C (p.Thr439Pro) c.1327A>C (p.Thr443Pro) c.1534A>C (p.Thr512Pro) n.479-21857T>G n.563+22463T>G c.1552A>C (p.Thr518Pro) | |
4 | g.47937168C>A | CA356826044 | CNGA1,NIPAL1 | c.1314G>T (p.Trp438Cys) c.1326G>T (p.Trp442Cys) c.1533G>T (p.Trp511Cys) n.479-21856C>A n.563+22464C>A c.1551G>T (p.Trp517Cys) | |
4 | g.47937168C>G | CA356826045 | CNGA1,NIPAL1 | c.1314G>C (p.Trp438Cys) c.1326G>C (p.Trp442Cys) c.1533G>C (p.Trp511Cys) n.479-21856C>G n.563+22464C>G c.1551G>C (p.Trp517Cys) | |
4 | g.47937168C>T | CA356826046 | CNGA1,NIPAL1 | c.1314G>A (p.Trp438Ter) c.1326G>A (p.Trp442Ter) c.1533G>A (p.Trp511Ter) n.479-21856C>T n.563+22464C>T c.1551G>A (p.Trp517Ter) | |
4 | g.47937169C>A | CA356826047 | CNGA1,NIPAL1 | c.1313G>T (p.Trp438Leu) c.1325G>T (p.Trp442Leu) c.1532G>T (p.Trp511Leu) n.479-21855C>A n.563+22465C>A c.1550G>T (p.Trp517Leu) | |
4 | g.47937169C= | CA1455551861 | CNGA1,NIPAL1 | c.1313G= (p.Trp438=) c.1325G= (p.Trp442=) c.1532G= (p.Trp511=) n.479-21855C= n.563+22465C= c.1550G= (p.Trp517=) | |
4 | g.47937169C>G | CA356826048 | CNGA1,NIPAL1 | c.1313G>C (p.Trp438Ser) c.1325G>C (p.Trp442Ser) c.1532G>C (p.Trp511Ser) n.479-21855C>G n.563+22465C>G c.1550G>C (p.Trp517Ser) | |
4 | g.47937169C>T | CA356826049 | CNGA1,NIPAL1 | c.1313G>A (p.Trp438Ter) c.1325G>A (p.Trp442Ter) c.1532G>A (p.Trp511Ter) n.479-21855C>T n.563+22465C>T c.1550G>A (p.Trp517Ter) | dbSNP |
4 | g.47937170A= | CA1455551862 | CNGA1,NIPAL1 | c.1312T= (p.Trp438=) c.1324T= (p.Trp442=) c.1531T= (p.Trp511=) n.479-21854A= n.563+22466A= c.1549T= (p.Trp517=) | |
4 | g.47937170A>C | CA2911098 | CNGA1,NIPAL1 | c.1312T>G (p.Trp438Gly) c.1324T>G (p.Trp442Gly) c.1531T>G (p.Trp511Gly) n.479-21854A>C n.563+22466A>C c.1549T>G (p.Trp517Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47937170A>G | CA356826050 | CNGA1,NIPAL1 | c.1312T>C (p.Trp438Arg) c.1324T>C (p.Trp442Arg) c.1531T>C (p.Trp511Arg) n.479-21854A>G n.563+22466A>G c.1549T>C (p.Trp517Arg) | COSMIC |
4 | g.47937170A>T | CA356826051 | CNGA1,NIPAL1 | c.1312T>A (p.Trp438Arg) c.1324T>A (p.Trp442Arg) c.1531T>A (p.Trp511Arg) n.479-21854A>T n.563+22466A>T c.1549T>A (p.Trp517Arg) | |
4 | g.47937171C>A | CA439404079 | CNGA1,NIPAL1 | c.1311G>T (p.Leu437=) c.1323G>T (p.Leu441=) c.1530G>T (p.Leu510=) n.479-21853C>A n.563+22467C>A c.1548G>T (p.Leu516=) | |
4 | g.47937171C= | CA1455551863 | CNGA1,NIPAL1 | c.1311G= (p.Leu437=) c.1323G= (p.Leu441=) c.1530G= (p.Leu510=) n.479-21853C= n.563+22467C= c.1548G= (p.Leu516=) | |
4 | g.47937171C>G | CA439404081 | CNGA1,NIPAL1 | c.1311G>C (p.Leu437=) c.1323G>C (p.Leu441=) c.1530G>C (p.Leu510=) n.479-21853C>G n.563+22467C>G c.1548G>C (p.Leu516=) | |
4 | g.47937171C>T | CA96688804 | CNGA1,NIPAL1 | c.1311G>A (p.Leu437=) c.1323G>A (p.Leu441=) c.1530G>A (p.Leu510=) n.479-21853C>T n.563+22467C>T c.1548G>A (p.Leu516=) | dbSNP |
4 | g.47937172A>C | CA356826052 | CNGA1,NIPAL1 | c.1310T>G (p.Leu437Arg) c.1322T>G (p.Leu441Arg) c.1529T>G (p.Leu510Arg) n.479-21852A>C n.563+22468A>C c.1547T>G (p.Leu516Arg) | |
4 | g.47937172A>G | CA356826053 | CNGA1,NIPAL1 | c.1310T>C (p.Leu437Pro) c.1322T>C (p.Leu441Pro) c.1529T>C (p.Leu510Pro) n.479-21852A>G n.563+22468A>G c.1547T>C (p.Leu516Pro) | gnomAD v4 |
4 | g.47937172A>T | CA356826054 | CNGA1,NIPAL1 | c.1310T>A (p.Leu437Gln) c.1322T>A (p.Leu441Gln) c.1529T>A (p.Leu510Gln) n.479-21852A>T n.563+22468A>T c.1547T>A (p.Leu516Gln) | |
4 | g.47937173G>A | CA2911100 | CNGA1,NIPAL1 | c.1309C>T (p.Leu437=) c.1321C>T (p.Leu441=) c.1528C>T (p.Leu510=) n.479-21851G>A n.563+22469G>A c.1546C>T (p.Leu516=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47937173G>C | CA2911099 | CNGA1,NIPAL1 | c.1309C>G (p.Leu437Val) c.1321C>G (p.Leu441Val) c.1528C>G (p.Leu510Val) n.479-21851G>C n.563+22469G>C c.1546C>G (p.Leu516Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47937173G= | CA1455551864 | CNGA1,NIPAL1 | c.1309C= (p.Leu437=) c.1321C= (p.Leu441=) c.1528C= (p.Leu510=) n.479-21851G= n.563+22469G= c.1546C= (p.Leu516=) | |
4 | g.47937173G>T | CA356826055 | CNGA1,NIPAL1 | c.1309C>A (p.Leu437Met) c.1321C>A (p.Leu441Met) c.1528C>A (p.Leu510Met) n.479-21851G>T n.563+22469G>T c.1546C>A (p.Leu516Met) | |
4 | g.47937174G>A | CA439404085 | CNGA1,NIPAL1 | c.1308C>T (p.Tyr436=) c.1320C>T (p.Tyr440=) c.1527C>T (p.Tyr509=) n.479-21850G>A n.563+22470G>A c.1545C>T (p.Tyr515=) | |
4 | g.47937174G>C | CA356826056 | CNGA1,NIPAL1 | c.1308C>G (p.Tyr436Ter) c.1320C>G (p.Tyr440Ter) c.1527C>G (p.Tyr509Ter) n.479-21850G>C n.563+22470G>C c.1545C>G (p.Tyr515Ter) | |
4 | g.47937174G>T | CA356826058 | CNGA1,NIPAL1 | c.1308C>A (p.Tyr436Ter) c.1320C>A (p.Tyr440Ter) c.1527C>A (p.Tyr509Ter) n.479-21850G>T n.563+22470G>T c.1545C>A (p.Tyr515Ter) | gnomAD v4 |
4 | g.47937175T>A | CA356826061 | CNGA1,NIPAL1 | c.1307A>T (p.Tyr436Phe) c.1319A>T (p.Tyr440Phe) c.1526A>T (p.Tyr509Phe) n.479-21849T>A n.563+22471T>A c.1544A>T (p.Tyr515Phe) | |
4 | g.47937175T>C | CA356826062 | CNGA1,NIPAL1 | c.1307A>G (p.Tyr436Cys) c.1319A>G (p.Tyr440Cys) c.1526A>G (p.Tyr509Cys) n.479-21849T>C n.563+22471T>C c.1544A>G (p.Tyr515Cys) | |
4 | g.47937175T>G | CA356826064 | CNGA1,NIPAL1 | c.1307A>C (p.Tyr436Ser) c.1319A>C (p.Tyr440Ser) c.1526A>C (p.Tyr509Ser) n.479-21849T>G n.563+22471T>G c.1544A>C (p.Tyr515Ser) | |
4 | g.47937176A= | CA1455551865 | CNGA1,NIPAL1 | c.1306T= (p.Tyr436=) c.1318T= (p.Tyr440=) c.1525T= (p.Tyr509=) n.479-21848A= n.563+22472A= c.1543T= (p.Tyr515=) | |
4 | g.47937176A>C | CA356826069 | CNGA1,NIPAL1 | c.1306T>G (p.Tyr436Asp) c.1318T>G (p.Tyr440Asp) c.1525T>G (p.Tyr509Asp) n.479-21848A>C n.563+22472A>C c.1543T>G (p.Tyr515Asp) | |
4 | g.47937176A>G | CA356826066 | CNGA1,NIPAL1 | c.1306T>C (p.Tyr436His) c.1318T>C (p.Tyr440His) c.1525T>C (p.Tyr509His) n.479-21848A>G n.563+22472A>G c.1543T>C (p.Tyr515His) | |
4 | g.47937176A>T | CA356826068 | CNGA1,NIPAL1 | c.1306T>A (p.Tyr436Asn) c.1318T>A (p.Tyr440Asn) c.1525T>A (p.Tyr509Asn) n.479-21848A>T n.563+22472A>T c.1543T>A (p.Tyr515Asn) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47937177G>A | CA439404090 | CNGA1,NIPAL1 | c.1305C>T (p.Asp435=) c.1317C>T (p.Asp439=) c.1524C>T (p.Asp508=) n.479-21847G>A n.563+22473G>A c.1542C>T (p.Asp514=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.47937177G>C | CA356826071 | CNGA1,NIPAL1 | c.1305C>G (p.Asp435Glu) c.1317C>G (p.Asp439Glu) c.1524C>G (p.Asp508Glu) n.479-21847G>C n.563+22473G>C c.1542C>G (p.Asp514Glu) | gnomAD v4 |
4 | g.47937177G= | CA1455551866 | CNGA1,NIPAL1 | c.1305C= (p.Asp435=) c.1317C= (p.Asp439=) c.1524C= (p.Asp508=) n.479-21847G= n.563+22473G= c.1542C= (p.Asp514=) | |
4 | g.47937177G>T | CA356826072 | CNGA1,NIPAL1 | c.1305C>A (p.Asp435Glu) c.1317C>A (p.Asp439Glu) c.1524C>A (p.Asp508Glu) n.479-21847G>T n.563+22473G>T c.1542C>A (p.Asp514Glu) | |
4 | g.47937177_47937179del | CA2761332298 | CNGA1,NIPAL1 | c.1303_1305del (p.Asp435del) c.1315_1317del (p.Asp439del) c.1522_1524del (p.Asp508del) n.479-21847_479-21845del n.563+22473_563+22475del c.1540_1542del (p.Asp514del) | |
4 | g.47937178T>A | CA356826075 | CNGA1,NIPAL1 | c.1304A>T (p.Asp435Val) c.1316A>T (p.Asp439Val) c.1523A>T (p.Asp508Val) n.479-21846T>A n.563+22474T>A c.1541A>T (p.Asp514Val) | |
4 | g.47937178T>C | CA356826077 | CNGA1,NIPAL1 | c.1304A>G (p.Asp435Gly) c.1316A>G (p.Asp439Gly) c.1523A>G (p.Asp508Gly) n.479-21846T>C n.563+22474T>C c.1541A>G (p.Asp514Gly) | dbSNP |
4 | g.47937178T>G | CA356826078 | CNGA1,NIPAL1 | c.1304A>C (p.Asp435Ala) c.1316A>C (p.Asp439Ala) c.1523A>C (p.Asp508Ala) n.479-21846T>G n.563+22474T>G c.1541A>C (p.Asp514Ala) | |
4 | g.47937178T= | CA1455551867 | CNGA1,NIPAL1 | c.1304A= (p.Asp435=) c.1316A= (p.Asp439=) c.1523A= (p.Asp508=) n.479-21846T= n.563+22474T= c.1541A= (p.Asp514=) | |
4 | g.47937179C>A | CA356826084 | CNGA1,NIPAL1 | c.1303G>T (p.Asp435Tyr) c.1315G>T (p.Asp439Tyr) c.1522G>T (p.Asp508Tyr) n.479-21845C>A n.563+22475C>A c.1540G>T (p.Asp514Tyr) | |
4 | g.47937179C= | CA1455551868 | CNGA1,NIPAL1 | c.1303G= (p.Asp435=) c.1315G= (p.Asp439=) c.1522G= (p.Asp508=) n.479-21845C= n.563+22475C= c.1540G= (p.Asp514=) | |
4 | g.47937179C>G | CA356826081 | CNGA1,NIPAL1 | c.1303G>C (p.Asp435His) c.1315G>C (p.Asp439His) c.1522G>C (p.Asp508His) n.479-21845C>G n.563+22475C>G c.1540G>C (p.Asp514His) | |
4 | g.47937179C>T | CA356826083 | CNGA1,NIPAL1 | c.1303G>A (p.Asp435Asn) c.1315G>A (p.Asp439Asn) c.1522G>A (p.Asp508Asn) n.479-21845C>T n.563+22475C>T c.1540G>A (p.Asp514Asn) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47937180A>C | CA356826087 | CNGA1,NIPAL1 | c.1302T>G (p.Phe434Leu) c.1314T>G (p.Phe438Leu) c.1521T>G (p.Phe507Leu) n.479-21844A>C n.563+22476A>C c.1539T>G (p.Phe513Leu) | |
4 | g.47937180A>G | CA439404093 | CNGA1,NIPAL1 | c.1302T>C (p.Phe434=) c.1314T>C (p.Phe438=) c.1521T>C (p.Phe507=) n.479-21844A>G n.563+22476A>G c.1539T>C (p.Phe513=) | |
4 | g.47937180A>T | CA356826089 | CNGA1,NIPAL1 | c.1302T>A (p.Phe434Leu) c.1314T>A (p.Phe438Leu) c.1521T>A (p.Phe507Leu) n.479-21844A>T n.563+22476A>T c.1539T>A (p.Phe513Leu) | |
4 | g.47937181A>C | CA356826091 | CNGA1,NIPAL1 | c.1301T>G (p.Phe434Cys) c.1313T>G (p.Phe438Cys) c.1520T>G (p.Phe507Cys) n.479-21843A>C n.563+22477A>C c.1538T>G (p.Phe513Cys) | |
4 | g.47937181A>G | CA356826093 | CNGA1,NIPAL1 | c.1301T>C (p.Phe434Ser) c.1313T>C (p.Phe438Ser) c.1520T>C (p.Phe507Ser) n.479-21843A>G n.563+22477A>G c.1538T>C (p.Phe513Ser) | |
4 | g.47937181A>T | CA356826094 | CNGA1,NIPAL1 | c.1301T>A (p.Phe434Tyr) c.1313T>A (p.Phe438Tyr) c.1520T>A (p.Phe507Tyr) n.479-21843A>T n.563+22477A>T c.1538T>A (p.Phe513Tyr) | |
4 | g.47937181_47937183del | CA2761332299 | CNGA1,NIPAL1 | c.1299_1301del (p.Trp433_Phe434delinsCys) c.1311_1313del (p.Trp437_Phe438delinsCys) c.1518_1520del (p.Trp506_Phe507delinsCys) n.479-21843_479-21841del n.563+22477_563+22479del c.1536_1538del (p.Trp512_Phe513delinsCys) | |
4 | g.47937182A>C | CA356826096 | CNGA1,NIPAL1 | c.1300T>G (p.Phe434Val) c.1312T>G (p.Phe438Val) c.1519T>G (p.Phe507Val) n.479-21842A>C n.563+22478A>C c.1537T>G (p.Phe513Val) | |
4 | g.47937182A>G | CA356826098 | CNGA1,NIPAL1 | c.1300T>C (p.Phe434Leu) c.1312T>C (p.Phe438Leu) c.1519T>C (p.Phe507Leu) n.479-21842A>G n.563+22478A>G c.1537T>C (p.Phe513Leu) | |
4 | g.47937182A>T | CA356826100 | CNGA1,NIPAL1 | c.1300T>A (p.Phe434Ile) c.1312T>A (p.Phe438Ile) c.1519T>A (p.Phe507Ile) n.479-21842A>T n.563+22478A>T c.1537T>A (p.Phe513Ile) | |
4 | g.47937183C>A | CA356826102 | CNGA1,NIPAL1 | c.1299G>T (p.Trp433Cys) c.1311G>T (p.Trp437Cys) c.1518G>T (p.Trp506Cys) n.479-21841C>A n.563+22479C>A c.1536G>T (p.Trp512Cys) | |
4 | g.47937183C>G | CA356826104 | CNGA1,NIPAL1 | c.1299G>C (p.Trp433Cys) c.1311G>C (p.Trp437Cys) c.1518G>C (p.Trp506Cys) n.479-21841C>G n.563+22479C>G c.1536G>C (p.Trp512Cys) | |
4 | g.47937183C>T | CA356826106 | CNGA1,NIPAL1 | c.1299G>A (p.Trp433Ter) c.1311G>A (p.Trp437Ter) c.1518G>A (p.Trp506Ter) n.479-21841C>T n.563+22479C>T c.1536G>A (p.Trp512Ter) | |
4 | g.47937184dup | CA2670552351 | CNGA1,NIPAL1 | c.1299dup (p.Phe434ValfsTer2) c.1311dup (p.Phe438ValfsTer2) c.1518dup (p.Phe507ValfsTer2) n.479-21840dup n.563+22480dup c.1536dup (p.Phe513ValfsTer2) | gnomAD v4 |
4 | g.47937184C>A | CA2911101 | CNGA1,NIPAL1 | c.1298G>T (p.Trp433Leu) c.1310G>T (p.Trp437Leu) c.1517G>T (p.Trp506Leu) n.479-21840C>A n.563+22480C>A c.1535G>T (p.Trp512Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47937184C= | CA1455551869 | CNGA1,NIPAL1 | c.1298G= (p.Trp433=) c.1310G= (p.Trp437=) c.1517G= (p.Trp506=) n.479-21840C= n.563+22480C= c.1535G= (p.Trp512=) | |
4 | g.47937184C>G | CA356826109 | CNGA1,NIPAL1 | c.1298G>C (p.Trp433Ser) c.1310G>C (p.Trp437Ser) c.1517G>C (p.Trp506Ser) n.479-21840C>G n.563+22480C>G c.1535G>C (p.Trp512Ser) | |
4 | g.47937184C>T | CA2911102 | CNGA1,NIPAL1 | c.1298G>A (p.Trp433Ter) c.1310G>A (p.Trp437Ter) c.1517G>A (p.Trp506Ter) n.479-21840C>T n.563+22480C>T c.1535G>A (p.Trp512Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47937185A>C | CA356826116 | CNGA1,NIPAL1 | c.1297T>G (p.Trp433Gly) c.1309T>G (p.Trp437Gly) c.1516T>G (p.Trp506Gly) n.479-21839A>C n.563+22481A>C c.1534T>G (p.Trp512Gly) | |
4 | g.47937185A>G | CA356826113 | CNGA1,NIPAL1 | c.1297T>C (p.Trp433Arg) c.1309T>C (p.Trp437Arg) c.1516T>C (p.Trp506Arg) n.479-21839A>G n.563+22481A>G c.1534T>C (p.Trp512Arg) | |
4 | g.47937185A>T | CA356826114 | CNGA1,NIPAL1 | c.1297T>A (p.Trp433Arg) c.1309T>A (p.Trp437Arg) c.1516T>A (p.Trp506Arg) n.479-21839A>T n.563+22481A>T c.1534T>A (p.Trp512Arg) | |
4 | g.47937186T>A | CA356826119 | CNGA1,NIPAL1 | c.1296A>T (p.Lys432Asn) c.1308A>T (p.Lys436Asn) c.1515A>T (p.Lys505Asn) n.479-21838T>A n.563+22482T>A c.1533A>T (p.Lys511Asn) | |
4 | g.47937186T>C | CA439404100 | CNGA1,NIPAL1 | c.1296A>G (p.Lys432=) c.1308A>G (p.Lys436=) c.1515A>G (p.Lys505=) n.479-21838T>C n.563+22482T>C c.1533A>G (p.Lys511=) | |
4 | g.47937186T>G | CA356826120 | CNGA1,NIPAL1 | c.1296A>C (p.Lys432Asn) c.1308A>C (p.Lys436Asn) c.1515A>C (p.Lys505Asn) n.479-21838T>G n.563+22482T>G c.1533A>C (p.Lys511Asn) | |
4 | g.47937187T>A | CA356826123 | CNGA1,NIPAL1 | c.1295A>T (p.Lys432Ile) c.1307A>T (p.Lys436Ile) c.1514A>T (p.Lys505Ile) n.479-21837T>A n.563+22483T>A c.1532A>T (p.Lys511Ile) | |
4 | g.47937187T>C | CA356826124 | CNGA1,NIPAL1 | c.1295A>G (p.Lys432Arg) c.1307A>G (p.Lys436Arg) c.1514A>G (p.Lys505Arg) n.479-21837T>C n.563+22483T>C c.1532A>G (p.Lys511Arg) | |
4 | g.47937187T>G | CA356826127 | CNGA1,NIPAL1 | c.1295A>C (p.Lys432Thr) c.1307A>C (p.Lys436Thr) c.1514A>C (p.Lys505Thr) n.479-21837T>G n.563+22483T>G c.1532A>C (p.Lys511Thr) | |
4 | g.47937188T>A | CA356826129 | CNGA1,NIPAL1 | c.1294A>T (p.Lys432Ter) c.1306A>T (p.Lys436Ter) c.1513A>T (p.Lys505Ter) n.479-21836T>A n.563+22484T>A c.1531A>T (p.Lys511Ter) | |
4 | g.47937188T>C | CA356826131 | CNGA1,NIPAL1 | c.1294A>G (p.Lys432Glu) c.1306A>G (p.Lys436Glu) c.1513A>G (p.Lys505Glu) n.479-21836T>C n.563+22484T>C c.1531A>G (p.Lys511Glu) | |
4 | g.47937188T>G | CA356826133 | CNGA1,NIPAL1 | c.1294A>C (p.Lys432Gln) c.1306A>C (p.Lys436Gln) c.1513A>C (p.Lys505Gln) n.479-21836T>G n.563+22484T>G c.1531A>C (p.Lys511Gln) | |
4 | g.47937191_47937193dup | CA2670552352 | CNGA1,NIPAL1 | c.1292_1294dup (p.Ile431_Lys432insIle) c.1304_1306dup (p.Ile435_Lys436insIle) c.1511_1513dup (p.Ile504_Lys505insIle) n.479-21833_479-21831dup n.563+22487_563+22489dup c.1529_1531dup (p.Ile510_Lys511insIle) | gnomAD v4 |
4 | g.47937189A>C | CA356826135 | CNGA1,NIPAL1 | c.1293T>G (p.Ile431Met) c.1305T>G (p.Ile435Met) c.1512T>G (p.Ile504Met) n.479-21835A>C n.563+22485A>C c.1530T>G (p.Ile510Met) | |
4 | g.47937189A>G | CA439404105 | CNGA1,NIPAL1 | c.1293T>C (p.Ile431=) c.1305T>C (p.Ile435=) c.1512T>C (p.Ile504=) n.479-21835A>G n.563+22485A>G c.1530T>C (p.Ile510=) | |
4 | g.47937189A>T | CA439404107 | CNGA1,NIPAL1 | c.1293T>A (p.Ile431=) c.1305T>A (p.Ile435=) c.1512T>A (p.Ile504=) n.479-21835A>T n.563+22485A>T c.1530T>A (p.Ile510=) | |
4 | g.47937190A>C | CA356826136 | CNGA1,NIPAL1 | c.1292T>G (p.Ile431Ser) c.1304T>G (p.Ile435Ser) c.1511T>G (p.Ile504Ser) n.479-21834A>C n.563+22486A>C c.1529T>G (p.Ile510Ser) | |
4 | g.47937190A>G | CA356826138 | CNGA1,NIPAL1 | c.1292T>C (p.Ile431Thr) c.1304T>C (p.Ile435Thr) c.1511T>C (p.Ile504Thr) n.479-21834A>G n.563+22486A>G c.1529T>C (p.Ile510Thr) | |
4 | g.47937190A>T | CA356826140 | CNGA1,NIPAL1 | c.1292T>A (p.Ile431Asn) c.1304T>A (p.Ile435Asn) c.1511T>A (p.Ile504Asn) n.479-21834A>T n.563+22486A>T c.1529T>A (p.Ile510Asn) | |
4 | g.47937190_47937209delinsATAACCCTCTTTTCCATATC | CA1455551870 | CNGA1,NIPAL1 | c.1273_1292delinsGATATGGAAAAGAGGGTTAT (p.Asp425=) c.1285_1304delinsGATATGGAAAAGAGGGTTAT (p.Asp429=) c.1492_1511delinsGATATGGAAAAGAGGGTTAT (p.Asp498=) n.479-21834_479-21815delinsATAACCCTCTTTTCCATATC n.563+22486_563+22505delinsATAACCCTCTTTTCCATATC c.1510_1529delinsGATATGGAAAAGAGGGTTAT (p.Asp504=) | |
4 | g.47937191T>A | CA356826146 | CNGA1,NIPAL1 | c.1291A>T (p.Ile431Phe) c.1303A>T (p.Ile435Phe) c.1510A>T (p.Ile504Phe) n.479-21833T>A n.563+22487T>A c.1528A>T (p.Ile510Phe) | |
4 | g.47937191T>C | CA356826144 | CNGA1,NIPAL1 | c.1291A>G (p.Ile431Val) c.1303A>G (p.Ile435Val) c.1510A>G (p.Ile504Val) n.479-21833T>C n.563+22487T>C c.1528A>G (p.Ile510Val) | |
4 | g.47937191T>G | CA356826142 | CNGA1,NIPAL1 | c.1291A>C (p.Ile431Leu) c.1303A>C (p.Ile435Leu) c.1510A>C (p.Ile504Leu) n.479-21833T>G n.563+22487T>G c.1528A>C (p.Ile510Leu) | |
4 | g.47937192_47937210del | CA1455551871 | CNGA1,NIPAL1 | c.1273_1291del (p.Asp425LeufsTer20) c.1285_1303del (p.Asp429LeufsTer20) c.1492_1510del (p.Asp498LeufsTer20) n.479-21832_479-21814del n.563+22488_563+22506del c.1510_1528del (p.Asp504LeufsTer20) | dbSNP |
4 | g.47937192A>C | CA439404114 | CNGA1,NIPAL1 | c.1290T>G (p.Val430=) c.1302T>G (p.Val434=) c.1509T>G (p.Val503=) n.479-21832A>C n.563+22488A>C c.1527T>G (p.Val509=) | |
4 | g.47937192A>G | CA439404110 | CNGA1,NIPAL1 | c.1290T>C (p.Val430=) c.1302T>C (p.Val434=) c.1509T>C (p.Val503=) n.479-21832A>G n.563+22488A>G c.1527T>C (p.Val509=) | |
4 | g.47937192A>T | CA439404112 | CNGA1,NIPAL1 | c.1290T>A (p.Val430=) c.1302T>A (p.Val434=) c.1509T>A (p.Val503=) n.479-21832A>T n.563+22488A>T c.1527T>A (p.Val509=) | |
4 | g.47937193A>C | CA356826153 | CNGA1,NIPAL1 | c.1289T>G (p.Val430Gly) c.1301T>G (p.Val434Gly) c.1508T>G (p.Val503Gly) n.479-21831A>C n.563+22489A>C c.1526T>G (p.Val509Gly) | |
4 | g.47937193A>G | CA356826149 | CNGA1,NIPAL1 | c.1289T>C (p.Val430Ala) c.1301T>C (p.Val434Ala) c.1508T>C (p.Val503Ala) n.479-21831A>G n.563+22489A>G c.1526T>C (p.Val509Ala) | |
4 | g.47937193A>T | CA356826151 | CNGA1,NIPAL1 | c.1289T>A (p.Val430Asp) c.1301T>A (p.Val434Asp) c.1508T>A (p.Val503Asp) n.479-21831A>T n.563+22489A>T c.1526T>A (p.Val509Asp) | |
4 | g.47937194C>A | CA356826155 | CNGA1,NIPAL1 | c.1288G>T (p.Val430Phe) c.1300G>T (p.Val434Phe) c.1507G>T (p.Val503Phe) n.479-21830C>A n.563+22490C>A c.1525G>T (p.Val509Phe) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47937194C= | CA1455551872 | CNGA1,NIPAL1 | c.1288G= (p.Val430=) c.1300G= (p.Val434=) c.1507G= (p.Val503=) n.479-21830C= n.563+22490C= c.1525G= (p.Val509=) | |
4 | g.47937194C>G | CA356826156 | CNGA1,NIPAL1 | c.1288G>C (p.Val430Leu) c.1300G>C (p.Val434Leu) c.1507G>C (p.Val503Leu) n.479-21830C>G n.563+22490C>G c.1525G>C (p.Val509Leu) | |
4 | g.47937194C>T | CA96688817 | CNGA1,NIPAL1 | c.1288G>A (p.Val430Ile) c.1300G>A (p.Val434Ile) c.1507G>A (p.Val503Ile) n.479-21830C>T n.563+22490C>T c.1525G>A (p.Val509Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.47937195C>A | CA356826159 | CNGA1,NIPAL1 | c.1287G>T (p.Arg429Ser) c.1299G>T (p.Arg433Ser) c.1506G>T (p.Arg502Ser) n.479-21829C>A n.563+22491C>A c.1524G>T (p.Arg508Ser) | |
4 | g.47937195C= | CA1455551873 | CNGA1,NIPAL1 | c.1287G= (p.Arg429=) c.1299G= (p.Arg433=) c.1506G= (p.Arg502=) n.479-21829C= n.563+22491C= c.1524G= (p.Arg508=) | |
4 | g.47937195C>G | CA356826161 | CNGA1,NIPAL1 | c.1287G>C (p.Arg429Ser) c.1299G>C (p.Arg433Ser) c.1506G>C (p.Arg502Ser) n.479-21829C>G n.563+22491C>G c.1524G>C (p.Arg508Ser) | ClinVar dbSNP gnomAD v4 |
4 | g.47937195C>T | CA439404120 | CNGA1,NIPAL1 | c.1287G>A (p.Arg429=) c.1299G>A (p.Arg433=) c.1506G>A (p.Arg502=) n.479-21829C>T n.563+22491C>T c.1524G>A (p.Arg508=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47937196C>A | CA96688828 | CNGA1,NIPAL1 | c.1286G>T (p.Arg429Met) c.1298G>T (p.Arg433Met) c.1505G>T (p.Arg502Met) n.479-21828C>A n.563+22492C>A c.1523G>T (p.Arg508Met) | dbSNP |
4 | g.47937196C= | CA1455551874 | CNGA1,NIPAL1 | c.1286G= (p.Arg429=) c.1298G= (p.Arg433=) c.1505G= (p.Arg502=) n.479-21828C= n.563+22492C= c.1523G= (p.Arg508=) | |
4 | g.47937196C>G | CA356826163 | CNGA1,NIPAL1 | c.1286G>C (p.Arg429Thr) c.1298G>C (p.Arg433Thr) c.1505G>C (p.Arg502Thr) n.479-21828C>G n.563+22492C>G c.1523G>C (p.Arg508Thr) | dbSNP |
4 | g.47937196C>T | CA2911103 | CNGA1,NIPAL1 | c.1286G>A (p.Arg429Lys) c.1298G>A (p.Arg433Lys) c.1505G>A (p.Arg502Lys) n.479-21828C>T n.563+22492C>T c.1523G>A (p.Arg508Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47937197T>A | CA356826165 | CNGA1,NIPAL1 | c.1285A>T (p.Arg429Trp) c.1297A>T (p.Arg433Trp) c.1504A>T (p.Arg502Trp) n.479-21827T>A n.563+22493T>A c.1522A>T (p.Arg508Trp) | ClinVar |
4 | g.47937197T>C | CA356826167 | CNGA1,NIPAL1 | c.1285A>G (p.Arg429Gly) c.1297A>G (p.Arg433Gly) c.1504A>G (p.Arg502Gly) n.479-21827T>C n.563+22493T>C c.1522A>G (p.Arg508Gly) | |
4 | g.47937197T>G | CA439404122 | CNGA1,NIPAL1 | c.1285A>C (p.Arg429=) c.1297A>C (p.Arg433=) c.1504A>C (p.Arg502=) n.479-21827T>G n.563+22493T>G c.1522A>C (p.Arg508=) | |
4 | g.47937198C>A | CA356826169 | CNGA1,NIPAL1 | c.1284G>T (p.Lys428Asn) c.1296G>T (p.Lys432Asn) c.1503G>T (p.Lys501Asn) n.479-21826C>A n.563+22494C>A c.1521G>T (p.Lys507Asn) | COSMIC |
4 | g.47937198C>G | CA356826171 | CNGA1,NIPAL1 | c.1284G>C (p.Lys428Asn) c.1296G>C (p.Lys432Asn) c.1503G>C (p.Lys501Asn) n.479-21826C>G n.563+22494C>G c.1521G>C (p.Lys507Asn) | |
4 | g.47937198C>T | CA439404123 | CNGA1,NIPAL1 | c.1284G>A (p.Lys428=) c.1296G>A (p.Lys432=) c.1503G>A (p.Lys501=) n.479-21826C>T n.563+22494C>T c.1521G>A (p.Lys507=) | COSMIC |
4 | g.47937199T>A | CA356826172 | CNGA1,NIPAL1 | c.1283A>T (p.Lys428Met) c.1295A>T (p.Lys432Met) c.1502A>T (p.Lys501Met) n.479-21825T>A n.563+22495T>A c.1520A>T (p.Lys507Met) | |
4 | g.47937199T>C | CA356826176 | CNGA1,NIPAL1 | c.1283A>G (p.Lys428Arg) c.1295A>G (p.Lys432Arg) c.1502A>G (p.Lys501Arg) n.479-21825T>C n.563+22495T>C c.1520A>G (p.Lys507Arg) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47937199T>G | CA356826174 | CNGA1,NIPAL1 | c.1283A>C (p.Lys428Thr) c.1295A>C (p.Lys432Thr) c.1502A>C (p.Lys501Thr) n.479-21825T>G n.563+22495T>G c.1520A>C (p.Lys507Thr) | |
4 | g.47937199T= | CA1455551875 | CNGA1,NIPAL1 | c.1283A= (p.Lys428=) c.1295A= (p.Lys432=) c.1502A= (p.Lys501=) n.479-21825T= n.563+22495T= c.1520A= (p.Lys507=) | |
4 | g.47937200T>A | CA356826178 | CNGA1,NIPAL1 | c.1282A>T (p.Lys428Ter) c.1294A>T (p.Lys432Ter) c.1501A>T (p.Lys501Ter) n.479-21824T>A n.563+22496T>A c.1519A>T (p.Lys507Ter) | |
4 | g.47937200T>C | CA356826180 | CNGA1,NIPAL1 | c.1282A>G (p.Lys428Glu) c.1294A>G (p.Lys432Glu) c.1501A>G (p.Lys501Glu) n.479-21824T>C n.563+22496T>C c.1519A>G (p.Lys507Glu) | |
4 | g.47937200T>G | CA356826182 | CNGA1,NIPAL1 | c.1282A>C (p.Lys428Gln) c.1294A>C (p.Lys432Gln) c.1501A>C (p.Lys501Gln) n.479-21824T>G n.563+22496T>G c.1519A>C (p.Lys507Gln) | |
4 | g.47937201T>A | CA356826185 | CNGA1,NIPAL1 | c.1281A>T (p.Glu427Asp) c.1293A>T (p.Glu431Asp) c.1500A>T (p.Glu500Asp) n.479-21823T>A n.563+22497T>A c.1518A>T (p.Glu506Asp) | |
4 | g.47937201T>C | CA439404126 | CNGA1,NIPAL1 | c.1281A>G (p.Glu427=) c.1293A>G (p.Glu431=) c.1500A>G (p.Glu500=) n.479-21823T>C n.563+22497T>C c.1518A>G (p.Glu506=) | |
4 | g.47937201T>G | CA356826186 | CNGA1,NIPAL1 | c.1281A>C (p.Glu427Asp) c.1293A>C (p.Glu431Asp) c.1500A>C (p.Glu500Asp) n.479-21823T>G n.563+22497T>G c.1518A>C (p.Glu506Asp) | |
4 | g.47937202T>A | CA356826189 | CNGA1,NIPAL1 | c.1280A>T (p.Glu427Val) c.1292A>T (p.Glu431Val) c.1499A>T (p.Glu500Val) n.479-21822T>A n.563+22498T>A c.1517A>T (p.Glu506Val) | |
4 | g.47937202T>C | CA356826191 | CNGA1,NIPAL1 | c.1280A>G (p.Glu427Gly) c.1292A>G (p.Glu431Gly) c.1499A>G (p.Glu500Gly) n.479-21822T>C n.563+22498T>C c.1517A>G (p.Glu506Gly) | |
4 | g.47937202T>G | CA356826192 | CNGA1,NIPAL1 | c.1280A>C (p.Glu427Ala) c.1292A>C (p.Glu431Ala) c.1499A>C (p.Glu500Ala) n.479-21822T>G n.563+22498T>G c.1517A>C (p.Glu506Ala) | |
4 | g.47937203C>A | CA356826195 | CNGA1,NIPAL1 | c.1279G>T (p.Glu427Ter) c.1291G>T (p.Glu431Ter) c.1498G>T (p.Glu500Ter) n.479-21821C>A n.563+22499C>A c.1516G>T (p.Glu506Ter) | |
4 | g.47937203C= | CA1455551876 | CNGA1,NIPAL1 | c.1279G= (p.Glu427=) c.1291G= (p.Glu431=) c.1498G= (p.Glu500=) n.479-21821C= n.563+22499C= c.1516G= (p.Glu506=) | |
4 | g.47937203C>G | CA356826197 | CNGA1,NIPAL1 | c.1279G>C (p.Glu427Gln) c.1291G>C (p.Glu431Gln) c.1498G>C (p.Glu500Gln) n.479-21821C>G n.563+22499C>G c.1516G>C (p.Glu506Gln) | |
4 | g.47937203C>T | CA2911104 | CNGA1,NIPAL1 | c.1279G>A (p.Glu427Lys) c.1291G>A (p.Glu431Lys) c.1498G>A (p.Glu500Lys) n.479-21821C>T n.563+22499C>T c.1516G>A (p.Glu506Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.47937204C>A | CA356826203 | CNGA1,NIPAL1 | c.1278G>T (p.Met426Ile) c.1290G>T (p.Met430Ile) c.1497G>T (p.Met499Ile) n.479-21820C>A n.563+22500C>A c.1515G>T (p.Met505Ile) | |
4 | g.47937204C>G | CA356826205 | CNGA1,NIPAL1 | c.1278G>C (p.Met426Ile) c.1290G>C (p.Met430Ile) c.1497G>C (p.Met499Ile) n.479-21820C>G n.563+22500C>G c.1515G>C (p.Met505Ile) | |
4 | g.47937204C>T | CA356826201 | CNGA1,NIPAL1 | c.1278G>A (p.Met426Ile) c.1290G>A (p.Met430Ile) c.1497G>A (p.Met499Ile) n.479-21820C>T n.563+22500C>T c.1515G>A (p.Met505Ile) | |
4 | g.47937204_47937205delinsCA | CA1455551877 | CNGA1,NIPAL1 | c.1277_1278delinsTG (p.Met426=) c.1289_1290delinsTG (p.Met430=) c.1496_1497delinsTG (p.Met499=) n.479-21820_479-21819delinsCA n.563+22500_563+22501delinsCA c.1514_1515delinsTG (p.Met505=) | |
4 | g.47937205del | CA551650453 | CNGA1,NIPAL1 | c.1277del (p.Met426ArgfsTer25) c.1289del (p.Met430ArgfsTer25) c.1496del (p.Met499ArgfsTer25) n.479-21819del n.563+22501del c.1514del (p.Met505ArgfsTer25) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47937205A= | CA1455551878 | CNGA1,NIPAL1 | c.1277T= (p.Met426=) c.1289T= (p.Met430=) c.1496T= (p.Met499=) n.479-21819A= n.563+22501A= c.1514T= (p.Met505=) | |
4 | g.47937205A>C | CA356826208 | CNGA1,NIPAL1 | c.1277T>G (p.Met426Arg) c.1289T>G (p.Met430Arg) c.1496T>G (p.Met499Arg) n.479-21819A>C n.563+22501A>C c.1514T>G (p.Met505Arg) | |
4 | g.47937205A>G | CA356826212 | CNGA1,NIPAL1 | c.1277T>C (p.Met426Thr) c.1289T>C (p.Met430Thr) c.1496T>C (p.Met499Thr) n.479-21819A>G n.563+22501A>G c.1514T>C (p.Met505Thr) | dbSNP gnomAD v4 |
4 | g.47937205A>T | CA356826214 | CNGA1,NIPAL1 | c.1277T>A (p.Met426Lys) c.1289T>A (p.Met430Lys) c.1496T>A (p.Met499Lys) n.479-21819A>T n.563+22501A>T c.1514T>A (p.Met505Lys) | |
4 | g.47937206T>A | CA356826216 | CNGA1,NIPAL1 | c.1276A>T (p.Met426Leu) c.1288A>T (p.Met430Leu) c.1495A>T (p.Met499Leu) n.479-21818T>A n.563+22502T>A c.1513A>T (p.Met505Leu) | dbSNP gnomAD v4 |
4 | g.47937206T>C | CA356826219 | CNGA1,NIPAL1 | c.1276A>G (p.Met426Val) c.1288A>G (p.Met430Val) c.1495A>G (p.Met499Val) n.479-21818T>C n.563+22502T>C c.1513A>G (p.Met505Val) | |
4 | g.47937206T>G | CA356826222 | CNGA1,NIPAL1 | c.1276A>C (p.Met426Leu) c.1288A>C (p.Met430Leu) c.1495A>C (p.Met499Leu) n.479-21818T>G n.563+22502T>G c.1513A>C (p.Met505Leu) | |
4 | g.47937206T= | CA1455551879 | CNGA1,NIPAL1 | c.1276A= (p.Met426=) c.1288A= (p.Met430=) c.1495A= (p.Met499=) n.479-21818T= n.563+22502T= c.1513A= (p.Met505=) | |
4 | g.47937207A= | CA1455551880 | CNGA1,NIPAL1 | c.1275T= (p.Asp425=) c.1287T= (p.Asp429=) c.1494T= (p.Asp498=) n.479-21817A= n.563+22503A= c.1512T= (p.Asp504=) | |
4 | g.47937207A>C | CA356826223 | CNGA1,NIPAL1 | c.1275T>G (p.Asp425Glu) c.1287T>G (p.Asp429Glu) c.1494T>G (p.Asp498Glu) n.479-21817A>C n.563+22503A>C c.1512T>G (p.Asp504Glu) | gnomAD v4 |
4 | g.47937207A>G | CA96688838 | CNGA1,NIPAL1 | c.1275T>C (p.Asp425=) c.1287T>C (p.Asp429=) c.1494T>C (p.Asp498=) n.479-21817A>G n.563+22503A>G c.1512T>C (p.Asp504=) | dbSNP |
4 | g.47937207A>T | CA356826225 | CNGA1,NIPAL1 | c.1275T>A (p.Asp425Glu) c.1287T>A (p.Asp429Glu) c.1494T>A (p.Asp498Glu) n.479-21817A>T n.563+22503A>T c.1512T>A (p.Asp504Glu) | |
4 | g.47937208T>A | CA356826230 | CNGA1,NIPAL1 | c.1274A>T (p.Asp425Val) c.1286A>T (p.Asp429Val) c.1493A>T (p.Asp498Val) n.479-21816T>A n.563+22504T>A c.1511A>T (p.Asp504Val) | |
4 | g.47937208T>C | CA96688839 | CNGA1,NIPAL1 | c.1274A>G (p.Asp425Gly) c.1286A>G (p.Asp429Gly) c.1493A>G (p.Asp498Gly) n.479-21816T>C n.563+22504T>C c.1511A>G (p.Asp504Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47937208T>G | CA356826233 | CNGA1,NIPAL1 | c.1274A>C (p.Asp425Ala) c.1286A>C (p.Asp429Ala) c.1493A>C (p.Asp498Ala) n.479-21816T>G n.563+22504T>G c.1511A>C (p.Asp504Ala) | |
4 | g.47937208T= | CA1455551881 | CNGA1,NIPAL1 | c.1274A= (p.Asp425=) c.1286A= (p.Asp429=) c.1493A= (p.Asp498=) n.479-21816T= n.563+22504T= c.1511A= (p.Asp504=) | |
4 | g.47937209C>A | CA2911105 | CNGA1,NIPAL1 | c.1273G>T (p.Asp425Tyr) c.1285G>T (p.Asp429Tyr) c.1492G>T (p.Asp498Tyr) n.479-21815C>A n.563+22505C>A c.1510G>T (p.Asp504Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47937209C= | CA1455551882 | CNGA1,NIPAL1 | c.1273G= (p.Asp425=) c.1285G= (p.Asp429=) c.1492G= (p.Asp498=) n.479-21815C= n.563+22505C= c.1510G= (p.Asp504=) | |
4 | g.47937209C>G | CA356826242 | CNGA1,NIPAL1 | c.1273G>C (p.Asp425His) c.1285G>C (p.Asp429His) c.1492G>C (p.Asp498His) n.479-21815C>G n.563+22505C>G c.1510G>C (p.Asp504His) | |
4 | g.47937209C>T | CA356826245 | CNGA1,NIPAL1 | c.1273G>A (p.Asp425Asn) c.1285G>A (p.Asp429Asn) c.1492G>A (p.Asp498Asn) n.479-21815C>T n.563+22505C>T c.1510G>A (p.Asp504Asn) | |
4 | g.47937210T>A | CA356826252 | CNGA1,NIPAL1 | c.1272A>T (p.Lys424Asn) c.1284A>T (p.Lys428Asn) c.1491A>T (p.Lys497Asn) n.479-21814T>A n.563+22506T>A c.1509A>T (p.Lys503Asn) | |
4 | g.47937210T>C | CA439404135 | CNGA1,NIPAL1 | c.1272A>G (p.Lys424=) c.1284A>G (p.Lys428=) c.1491A>G (p.Lys497=) n.479-21814T>C n.563+22506T>C c.1509A>G (p.Lys503=) | |
4 | g.47937210T>G | CA356826249 | CNGA1,NIPAL1 | c.1272A>C (p.Lys424Asn) c.1284A>C (p.Lys428Asn) c.1491A>C (p.Lys497Asn) n.479-21814T>G n.563+22506T>G c.1509A>C (p.Lys503Asn) | |
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 |