Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.70166664del | CA2625465342 | SLC8A3 | c.1760del (p.Leu587TrpfsTer16) c.1760del (p.Leu587TrpfsTer9) c.1760del (p.Leu587TrpfsTer?) n.2514del c.1229del (p.Leu410TrpfsTer16) n.2395del | gnomAD v4 |
14 | g.70166664A= | CA2145077109 | SLC8A3 | c.1759T= (p.Leu587=) n.2513T= c.1228T= (p.Leu410=) n.2394T= | |
14 | g.70166664A>C | CA390207990 | SLC8A3 | c.1759T>G (p.Leu587Val) n.2513T>G c.1228T>G (p.Leu410Val) n.2394T>G | |
14 | g.70166664A>G | CA7247195 | SLC8A3 | c.1759T>C (p.Leu587=) n.2513T>C c.1228T>C (p.Leu410=) n.2394T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.70166664A>T | CA390207991 | SLC8A3 | c.1759T>A (p.Leu587Met) n.2513T>A c.1228T>A (p.Leu410Met) n.2394T>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.70166665C>A | CA390207992 | SLC8A3 | c.1758G>T (p.Glu586Asp) n.2512G>T c.1227G>T (p.Glu409Asp) n.2393G>T | gnomAD v4 |
14 | g.70166665C= | CA2145077110 | SLC8A3 | c.1758G= (p.Glu586=) n.2512G= c.1227G= (p.Glu409=) n.2393G= | |
14 | g.70166665C>G | CA390207993 | SLC8A3 | c.1758G>C (p.Glu586Asp) n.2512G>C c.1227G>C (p.Glu409Asp) n.2393G>C | |
14 | g.70166665C>T | CA487005963 | SLC8A3 | c.1758G>A (p.Glu586=) n.2512G>A c.1227G>A (p.Glu409=) n.2393G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.70166666T>A | CA390207994 | SLC8A3 | c.1757A>T (p.Glu586Val) n.2511A>T c.1226A>T (p.Glu409Val) n.2392A>T | |
14 | g.70166666T>C | CA390207995 | SLC8A3 | c.1757A>G (p.Glu586Gly) n.2511A>G c.1226A>G (p.Glu409Gly) n.2392A>G | |
14 | g.70166666T>G | CA390207996 | SLC8A3 | c.1757A>C (p.Glu586Ala) n.2511A>C c.1226A>C (p.Glu409Ala) n.2392A>C | |
14 | g.70166667C>A | CA390207999 | SLC8A3 | c.1756G>T (p.Glu586Ter) n.2510G>T c.1225G>T (p.Glu409Ter) n.2391G>T | |
14 | g.70166667C= | CA2145077111 | SLC8A3 | c.1756G= (p.Glu586=) n.2510G= c.1225G= (p.Glu409=) n.2391G= | |
14 | g.70166667C>G | CA390207998 | SLC8A3 | c.1756G>C (p.Glu586Gln) n.2510G>C c.1225G>C (p.Glu409Gln) n.2391G>C | |
14 | g.70166667C>T | CA390207997 | SLC8A3 | c.1756G>A (p.Glu586Lys) n.2510G>A c.1225G>A (p.Glu409Lys) n.2391G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
14 | g.70166668C>A | CA487005973 | SLC8A3 | c.1755G>T (p.Gly585=) n.2509G>T c.1224G>T (p.Gly408=) n.2390G>T | |
14 | g.70166668C>G | CA487005975 | SLC8A3 | c.1755G>C (p.Gly585=) n.2509G>C c.1224G>C (p.Gly408=) n.2390G>C | |
14 | g.70166668C>T | CA487005976 | SLC8A3 | c.1755G>A (p.Gly585=) n.2509G>A c.1224G>A (p.Gly408=) n.2390G>A | |
14 | g.70166669C>A | CA390208000 | SLC8A3 | c.1754G>T (p.Gly585Val) n.2508G>T c.1223G>T (p.Gly408Val) n.2389G>T | |
14 | g.70166669C>G | CA390208001 | SLC8A3 | c.1754G>C (p.Gly585Ala) n.2508G>C c.1223G>C (p.Gly408Ala) n.2389G>C | |
14 | g.70166669C>T | CA390208002 | SLC8A3 | c.1754G>A (p.Gly585Glu) n.2508G>A c.1223G>A (p.Gly408Glu) n.2389G>A | |
14 | g.70166670C>A | CA390208003 | SLC8A3 | c.1753G>T (p.Gly585Trp) n.2507G>T c.1222G>T (p.Gly408Trp) n.2388G>T | |
14 | g.70166670C= | CA2145077112 | SLC8A3 | c.1753G= (p.Gly585=) n.2507G= c.1222G= (p.Gly408=) n.2388G= | |
14 | g.70166670C>G | CA390208004 | SLC8A3 | c.1753G>C (p.Gly585Arg) n.2507G>C c.1222G>C (p.Gly408Arg) n.2388G>C | |
14 | g.70166670C>T | CA390208005 | SLC8A3 | c.1753G>A (p.Gly585Arg) n.2507G>A c.1222G>A (p.Gly408Arg) n.2388G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.70166671A= | CA2145077113 | SLC8A3 | c.1752T= (p.Tyr584=) n.2506T= c.1221T= (p.Tyr407=) n.2387T= | |
14 | g.70166671A>C | CA390208007 | SLC8A3 | c.1752T>G (p.Tyr584Ter) n.2506T>G c.1221T>G (p.Tyr407Ter) n.2387T>G | |
14 | g.70166671A>G | CA262994997 | SLC8A3 | c.1752T>C (p.Tyr584=) n.2506T>C c.1221T>C (p.Tyr407=) n.2387T>C | dbSNP gnomAD v4 |
14 | g.70166671A>T | CA390208006 | SLC8A3 | c.1752T>A (p.Tyr584Ter) n.2506T>A c.1221T>A (p.Tyr407Ter) n.2387T>A | |
14 | g.70166673_70166674del | CA2625465343 | SLC8A3 | c.1751_1752del (p.Tyr584TrpfsTer8) n.2505_2506del c.1220_1221del (p.Tyr407TrpfsTer8) n.2386_2387del | gnomAD v4 |
14 | g.70166672T>A | CA390208008 | SLC8A3 | c.1751A>T (p.Tyr584Phe) n.2505A>T c.1220A>T (p.Tyr407Phe) n.2386A>T | |
14 | g.70166672T>C | CA390208009 | SLC8A3 | c.1751A>G (p.Tyr584Cys) n.2505A>G c.1220A>G (p.Tyr407Cys) n.2386A>G | gnomAD v4 |
14 | g.70166672T>G | CA390208010 | SLC8A3 | c.1751A>C (p.Tyr584Ser) n.2505A>C c.1220A>C (p.Tyr407Ser) n.2386A>C | |
14 | g.70166673A= | CA2145077114 | SLC8A3 | c.1750T= (p.Tyr584=) n.2504T= c.1219T= (p.Tyr407=) n.2385T= | |
14 | g.70166673A>C | CA390208011 | SLC8A3 | c.1750T>G (p.Tyr584Asp) n.2504T>G c.1219T>G (p.Tyr407Asp) n.2385T>G | |
14 | g.70166673A>G | CA7247196 | SLC8A3 | c.1750T>C (p.Tyr584His) n.2504T>C c.1219T>C (p.Tyr407His) n.2385T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.70166673A>T | CA390208012 | SLC8A3 | c.1750T>A (p.Tyr584Asn) n.2504T>A c.1219T>A (p.Tyr407Asn) n.2385T>A | gnomAD v4 |
14 | g.70166674T>A | CA487006003 | SLC8A3 | c.1749A>T (p.Thr583=) n.2503A>T c.1218A>T (p.Thr406=) n.2384A>T | |
14 | g.70166674T>C | CA487006005 | SLC8A3 | c.1749A>G (p.Thr583=) n.2503A>G c.1218A>G (p.Thr406=) n.2384A>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.70166674T>G | CA487006007 | SLC8A3 | c.1749A>C (p.Thr583=) n.2503A>C c.1218A>C (p.Thr406=) n.2384A>C | |
14 | g.70166674T= | CA2145077115 | SLC8A3 | c.1749A= (p.Thr583=) n.2503A= c.1218A= (p.Thr406=) n.2384A= | |
14 | g.70166675G>A | CA7247197 | SLC8A3 | c.1748C>T (p.Thr583Ile) n.2502C>T c.1217C>T (p.Thr406Ile) n.2383C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.70166675G>C | CA390208014 | SLC8A3 | c.1748C>G (p.Thr583Arg) n.2502C>G c.1217C>G (p.Thr406Arg) n.2383C>G | |
14 | g.70166675G= | CA2145077116 | SLC8A3 | c.1748C= (p.Thr583=) n.2502C= c.1217C= (p.Thr406=) n.2383C= | |
14 | g.70166675G>T | CA390208013 | SLC8A3 | c.1748C>A (p.Thr583Lys) n.2502C>A c.1217C>A (p.Thr406Lys) n.2383C>A | |
14 | g.70166676T>A | CA390208015 | SLC8A3 | c.1747A>T (p.Thr583Ser) n.2501A>T c.1216A>T (p.Thr406Ser) n.2382A>T | |
14 | g.70166676T>C | CA390208016 | SLC8A3 | c.1747A>G (p.Thr583Ala) n.2501A>G c.1216A>G (p.Thr406Ala) n.2382A>G | dbSNP |
14 | g.70166676T>G | CA390208017 | SLC8A3 | c.1747A>C (p.Thr583Pro) n.2501A>C c.1216A>C (p.Thr406Pro) n.2382A>C | |
14 | g.70166676T= | CA2145077117 | SLC8A3 | c.1747A= (p.Thr583=) n.2501A= c.1216A= (p.Thr406=) n.2382A= | |
14 | g.70166677G>A | CA487006020 | SLC8A3 | c.1746C>T (p.Asp582=) n.2500C>T c.1215C>T (p.Asp405=) n.2381C>T | gnomAD v4 |
14 | g.70166677G>C | CA390208018 | SLC8A3 | c.1746C>G (p.Asp582Glu) n.2500C>G c.1215C>G (p.Asp405Glu) n.2381C>G | |
14 | g.70166677G>T | CA390208019 | SLC8A3 | c.1746C>A (p.Asp582Glu) n.2500C>A c.1215C>A (p.Asp405Glu) n.2381C>A | |
14 | g.70166678T>A | CA390208020 | SLC8A3 | c.1745A>T (p.Asp582Val) n.2499A>T c.1214A>T (p.Asp405Val) n.2380A>T | |
14 | g.70166678T>C | CA390208021 | SLC8A3 | c.1745A>G (p.Asp582Gly) n.2499A>G c.1214A>G (p.Asp405Gly) n.2380A>G | dbSNP gnomAD v4 |
14 | g.70166678T>G | CA390208022 | SLC8A3 | c.1745A>C (p.Asp582Ala) n.2499A>C c.1214A>C (p.Asp405Ala) n.2380A>C | dbSNP |
14 | g.70166678T= | CA2145077118 | SLC8A3 | c.1745A= (p.Asp582=) n.2499A= c.1214A= (p.Asp405=) n.2380A= | |
14 | g.70166679C>A | CA390208023 | SLC8A3 | c.1744G>T (p.Asp582Tyr) n.2498G>T c.1213G>T (p.Asp405Tyr) n.2379G>T | |
14 | g.70166679C>G | CA390208024 | SLC8A3 | c.1744G>C (p.Asp582His) n.2498G>C c.1213G>C (p.Asp405His) n.2379G>C | |
14 | g.70166679C>T | CA390208025 | SLC8A3 | c.1744G>A (p.Asp582Asn) n.2498G>A c.1213G>A (p.Asp405Asn) n.2379G>A | |
14 | g.70166680T>A | CA390208026 | SLC8A3 | c.1743A>T (p.Glu581Asp) n.2497A>T c.1212A>T (p.Glu404Asp) n.2378A>T | |
14 | g.70166680T>C | CA487006029 | SLC8A3 | c.1743A>G (p.Glu581=) n.2497A>G c.1212A>G (p.Glu404=) n.2378A>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.70166680T>G | CA390208027 | SLC8A3 | c.1743A>C (p.Glu581Asp) n.2497A>C c.1212A>C (p.Glu404Asp) n.2378A>C | |
14 | g.70166680T= | CA2145077119 | SLC8A3 | c.1743A= (p.Glu581=) n.2497A= c.1212A= (p.Glu404=) n.2378A= | |
14 | g.70166681T>A | CA390208028 | SLC8A3 | c.1742A>T (p.Glu581Val) n.2496A>T c.1211A>T (p.Glu404Val) n.2377A>T | |
14 | g.70166681T>C | CA390208030 | SLC8A3 | c.1742A>G (p.Glu581Gly) n.2496A>G c.1211A>G (p.Glu404Gly) n.2377A>G | |
14 | g.70166681T>G | CA390208029 | SLC8A3 | c.1742A>C (p.Glu581Ala) n.2496A>C c.1211A>C (p.Glu404Ala) n.2377A>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.70166681T= | CA2145077120 | SLC8A3 | c.1742A= (p.Glu581=) n.2496A= c.1211A= (p.Glu404=) n.2377A= | |
14 | g.70166682C>A | CA390208031 | SLC8A3 | c.1741G>T (p.Glu581Ter) n.2495G>T c.1210G>T (p.Glu404Ter) n.2376G>T | |
14 | g.70166682C>G | CA390208033 | SLC8A3 | c.1741G>C (p.Glu581Gln) n.2495G>C c.1210G>C (p.Glu404Gln) n.2376G>C | |
14 | g.70166682C>T | CA390208032 | SLC8A3 | c.1741G>A (p.Glu581Lys) n.2495G>A c.1210G>A (p.Glu404Lys) n.2376G>A | COSMIC COSMIC |
14 | g.70166683A= | CA2145077121 | SLC8A3 | c.1740T= (p.Phe580=) n.2494T= c.1209T= (p.Phe403=) n.2375T= | |
14 | g.70166683A>C | CA390208034 | SLC8A3 | c.1740T>G (p.Phe580Leu) n.2494T>G c.1209T>G (p.Phe403Leu) n.2375T>G | |
14 | g.70166683A>G | CA487244918 | SLC8A3 | c.1740T>C (p.Phe580=) n.2494T>C c.1209T>C (p.Phe403=) n.2375T>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.70166683A>T | CA390208035 | SLC8A3 | c.1740T>A (p.Phe580Leu) n.2494T>A c.1209T>A (p.Phe403Leu) n.2375T>A | |
14 | g.70166684A>C | CA390208036 | SLC8A3 | c.1739T>G (p.Phe580Cys) n.2493T>G c.1208T>G (p.Phe403Cys) n.2374T>G | |
14 | g.70166684A>G | CA390208037 | SLC8A3 | c.1739T>C (p.Phe580Ser) n.2493T>C c.1208T>C (p.Phe403Ser) n.2374T>C | |
14 | g.70166684A>T | CA390208038 | SLC8A3 | c.1739T>A (p.Phe580Tyr) n.2493T>A c.1208T>A (p.Phe403Tyr) n.2374T>A | |
14 | g.70166685A>C | CA390208039 | SLC8A3 | c.1738T>G (p.Phe580Val) n.2492T>G c.1207T>G (p.Phe403Val) n.2373T>G | gnomAD v4 |
14 | g.70166685A>G | CA390208040 | SLC8A3 | c.1738T>C (p.Phe580Leu) n.2492T>C c.1207T>C (p.Phe403Leu) n.2373T>C | |
14 | g.70166685A>T | CA390208041 | SLC8A3 | c.1738T>A (p.Phe580Ile) n.2492T>A c.1207T>A (p.Phe403Ile) n.2373T>A | |
14 | g.70166686G>A | CA487244919 | SLC8A3 | c.1737C>T (p.Asp579=) n.2491C>T c.1206C>T (p.Asp402=) n.2372C>T | |
14 | g.70166686G>C | CA390208042 | SLC8A3 | c.1737C>G (p.Asp579Glu) n.2491C>G c.1206C>G (p.Asp402Glu) n.2372C>G | |
14 | g.70166686G>T | CA390208043 | SLC8A3 | c.1737C>A (p.Asp579Glu) n.2491C>A c.1206C>A (p.Asp402Glu) n.2372C>A | |
14 | g.70166687T>A | CA390208044 | SLC8A3 | c.1736A>T (p.Asp579Val) n.2490A>T c.1205A>T (p.Asp402Val) n.2371A>T | |
14 | g.70166687T>C | CA390208045 | SLC8A3 | c.1736A>G (p.Asp579Gly) n.2490A>G c.1205A>G (p.Asp402Gly) n.2371A>G | |
14 | g.70166687T>G | CA390208046 | SLC8A3 | c.1736A>C (p.Asp579Ala) n.2490A>C c.1205A>C (p.Asp402Ala) n.2371A>C | |
14 | g.70166688C>A | CA390208047 | SLC8A3 | c.1735G>T (p.Asp579Tyr) n.2489G>T c.1204G>T (p.Asp402Tyr) n.2370G>T | |
14 | g.70166688C>G | CA390208048 | SLC8A3 | c.1735G>C (p.Asp579His) n.2489G>C c.1204G>C (p.Asp402His) n.2370G>C | |
14 | g.70166688C>T | CA390208049 | SLC8A3 | c.1735G>A (p.Asp579Asn) n.2489G>A c.1204G>A (p.Asp402Asn) n.2370G>A | gnomAD v4 |
14 | g.70166689C>A | CA390208050 | SLC8A3 | c.1734G>T (p.Glu578Asp) n.2488G>T c.1203G>T (p.Glu401Asp) n.2369G>T | |
14 | g.70166689C>G | CA390208051 | SLC8A3 | c.1734G>C (p.Glu578Asp) n.2488G>C c.1203G>C (p.Glu401Asp) n.2369G>C | |
14 | g.70166689C>T | CA487244920 | SLC8A3 | c.1734G>A (p.Glu578=) n.2488G>A c.1203G>A (p.Glu401=) n.2369G>A | |
14 | g.70166690T>A | CA390208052 | SLC8A3 | c.1733A>T (p.Glu578Val) n.2487A>T c.1202A>T (p.Glu401Val) n.2368A>T | |
14 | g.70166690T>C | CA390208053 | SLC8A3 | c.1733A>G (p.Glu578Gly) n.2487A>G c.1202A>G (p.Glu401Gly) n.2368A>G | |
14 | g.70166690T>G | CA390208054 | SLC8A3 | c.1733A>C (p.Glu578Ala) n.2487A>C c.1202A>C (p.Glu401Ala) n.2368A>C | |
14 | g.70166691C>A | CA390208055 | SLC8A3 | c.1732G>T (p.Glu578Ter) n.2486G>T c.1201G>T (p.Glu401Ter) n.2367G>T | |
14 | g.70166691C>G | CA390208056 | SLC8A3 | c.1732G>C (p.Glu578Gln) n.2486G>C c.1201G>C (p.Glu401Gln) n.2367G>C | |
14 | g.70166691C>T | CA390208057 | SLC8A3 | c.1732G>A (p.Glu578Lys) n.2486G>A c.1201G>A (p.Glu401Lys) n.2367G>A | |
14 | g.70166692A= | CA2145077122 | SLC8A3 | c.1731T= (p.Gly577=) n.2485T= c.1200T= (p.Gly400=) n.2366T= | |
14 | g.70166692A>C | CA487244921 | SLC8A3 | c.1731T>G (p.Gly577=) n.2485T>G c.1200T>G (p.Gly400=) n.2366T>G | dbSNP gnomAD v4 |
14 | g.70166692A>G | CA487244922 | SLC8A3 | c.1731T>C (p.Gly577=) n.2485T>C c.1200T>C (p.Gly400=) n.2366T>C | gnomAD v4 |
14 | g.70166692A>T | CA487244923 | SLC8A3 | c.1731T>A (p.Gly577=) n.2485T>A c.1200T>A (p.Gly400=) n.2366T>A | |
14 | g.70166692dup | CA2625465344 | SLC8A3 | c.1731dup (p.Glu578Ter) n.2485dup c.1200dup (p.Glu401Ter) n.2366dup | gnomAD v4 |
14 | g.70166693C>A | CA390208058 | SLC8A3 | c.1730G>T (p.Gly577Val) n.2484G>T c.1199G>T (p.Gly400Val) n.2365G>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.70166693C= | CA2145077123 | SLC8A3 | c.1730G= (p.Gly577=) n.2484G= c.1199G= (p.Gly400=) n.2365G= | |
14 | g.70166693C>G | CA390208059 | SLC8A3 | c.1730G>C (p.Gly577Ala) n.2484G>C c.1199G>C (p.Gly400Ala) n.2365G>C | |
14 | g.70166693C>T | CA390208060 | SLC8A3 | c.1730G>A (p.Gly577Asp) n.2484G>A c.1199G>A (p.Gly400Asp) n.2365G>A | dbSNP gnomAD v4 |
14 | g.70166694C>A | CA390208061 | SLC8A3 | c.1729G>T (p.Gly577Cys) n.2483G>T c.1198G>T (p.Gly400Cys) n.2364G>T | |
14 | g.70166694C= | CA2145077124 | SLC8A3 | c.1729G= (p.Gly577=) n.2483G= c.1198G= (p.Gly400=) n.2364G= | |
14 | g.70166694C>G | CA390208062 | SLC8A3 | c.1729G>C (p.Gly577Arg) n.2483G>C c.1198G>C (p.Gly400Arg) n.2364G>C | |
14 | g.70166694C>T | CA7247198 | SLC8A3 | c.1729G>A (p.Gly577Ser) n.2483G>A c.1198G>A (p.Gly400Ser) n.2364G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.70166695G>A | CA7247199 | SLC8A3 | c.1728C>T (p.Gly576=) n.2482C>T c.1197C>T (p.Gly399=) n.2363C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.70166695G>C | CA487244924 | SLC8A3 | c.1728C>G (p.Gly576=) n.2482C>G c.1197C>G (p.Gly399=) n.2363C>G | |
14 | g.70166695G= | CA2145077125 | SLC8A3 | c.1728C= (p.Gly576=) n.2482C= c.1197C= (p.Gly399=) n.2363C= | |
14 | g.70166695G>T | CA487244925 | SLC8A3 | c.1728C>A (p.Gly576=) n.2482C>A c.1197C>A (p.Gly399=) n.2363C>A | |
14 | g.70166696C>A | CA390208065 | SLC8A3 | c.1727G>T (p.Gly576Val) n.2481G>T c.1196G>T (p.Gly399Val) n.2362G>T | |
14 | g.70166696C= | CA2145077126 | SLC8A3 | c.1727G= (p.Gly576=) n.2481G= c.1196G= (p.Gly399=) n.2362G= | |
14 | g.70166696C>G | CA390208063 | SLC8A3 | c.1727G>C (p.Gly576Ala) n.2481G>C c.1196G>C (p.Gly399Ala) n.2362G>C | |
14 | g.70166696C>T | CA390208064 | SLC8A3 | c.1727G>A (p.Gly576Asp) n.2481G>A c.1196G>A (p.Gly399Asp) n.2362G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.70166697C>A | CA390208066 | SLC8A3 | c.1726G>T (p.Gly576Cys) n.2480G>T c.1195G>T (p.Gly399Cys) n.2361G>T | |
14 | g.70166697C>G | CA390208067 | SLC8A3 | c.1726G>C (p.Gly576Arg) n.2480G>C c.1195G>C (p.Gly399Arg) n.2361G>C | |
14 | g.70166697C>T | CA390208068 | SLC8A3 | c.1726G>A (p.Gly576Ser) n.2480G>A c.1195G>A (p.Gly399Ser) n.2361G>A | gnomAD v4 |
14 | g.70166698A>C | CA487244926 | SLC8A3 | c.1725T>G (p.Gly575=) n.2479T>G c.1194T>G (p.Gly398=) n.2360T>G | |
14 | g.70166698A>G | CA487244927 | SLC8A3 | c.1725T>C (p.Gly575=) n.2479T>C c.1194T>C (p.Gly398=) n.2360T>C | |
14 | g.70166698A>T | CA487244928 | SLC8A3 | c.1725T>A (p.Gly575=) n.2479T>A c.1194T>A (p.Gly398=) n.2360T>A | gnomAD v4 |
14 | g.70166699C>A | CA390208069 | SLC8A3 | c.1724G>T (p.Gly575Val) n.2478G>T c.1193G>T (p.Gly398Val) n.2359G>T | |
14 | g.70166699C= | CA2145077127 | SLC8A3 | c.1724G= (p.Gly575=) n.2478G= c.1193G= (p.Gly398=) n.2359G= | |
14 | g.70166699C>G | CA390208070 | SLC8A3 | c.1724G>C (p.Gly575Ala) n.2478G>C c.1193G>C (p.Gly398Ala) n.2359G>C | |
14 | g.70166699C>T | CA262995011 | SLC8A3 | c.1724G>A (p.Gly575Asp) n.2478G>A c.1193G>A (p.Gly398Asp) n.2359G>A | dbSNP |
14 | g.70166700C>A | CA390208071 | SLC8A3 | c.1723G>T (p.Gly575Cys) n.2477G>T c.1192G>T (p.Gly398Cys) n.2358G>T | gnomAD v4 COSMIC COSMIC |
14 | g.70166700C>G | CA390208072 | SLC8A3 | c.1723G>C (p.Gly575Arg) n.2477G>C c.1192G>C (p.Gly398Arg) n.2358G>C | |
14 | g.70166700C>T | CA390208073 | SLC8A3 | c.1723G>A (p.Gly575Ser) n.2477G>A c.1192G>A (p.Gly398Ser) n.2358G>A | |
14 | g.70166701C>A | CA390208074 | SLC8A3 | c.1722G>T (p.Lys574Asn) n.2476G>T c.1191G>T (p.Lys397Asn) n.2357G>T | |
14 | g.70166701C>G | CA390208075 | SLC8A3 | c.1722G>C (p.Lys574Asn) n.2476G>C c.1191G>C (p.Lys397Asn) n.2357G>C | |
14 | g.70166701C>T | CA487244929 | SLC8A3 | c.1722G>A (p.Lys574=) n.2476G>A c.1191G>A (p.Lys397=) n.2357G>A | |
14 | g.70166702T>A | CA390208078 | SLC8A3 | c.1721A>T (p.Lys574Met) n.2475A>T c.1190A>T (p.Lys397Met) n.2356A>T | COSMIC |
14 | g.70166702T>C | CA390208076 | SLC8A3 | c.1721A>G (p.Lys574Arg) n.2475A>G c.1190A>G (p.Lys397Arg) n.2356A>G | |
14 | g.70166702T>G | CA390208077 | SLC8A3 | c.1721A>C (p.Lys574Thr) n.2475A>C c.1190A>C (p.Lys397Thr) n.2356A>C | |
14 | g.70166703T>A | CA390208079 | SLC8A3 | c.1720A>T (p.Lys574Ter) n.2474A>T c.1189A>T (p.Lys397Ter) n.2355A>T | |
14 | g.70166703T>C | CA390208080 | SLC8A3 | c.1720A>G (p.Lys574Glu) n.2474A>G c.1189A>G (p.Lys397Glu) n.2355A>G | |
14 | g.70166703T>G | CA390208081 | SLC8A3 | c.1720A>C (p.Lys574Gln) n.2474A>C c.1189A>C (p.Lys397Gln) n.2355A>C | |
14 | g.70166704G>A | CA487244931 | SLC8A3 | c.1719C>T (p.Ala573=) n.2473C>T c.1188C>T (p.Ala396=) n.2354C>T | |
14 | g.70166704G>C | CA262995026 | SLC8A3 | c.1719C>G (p.Ala573=) n.2473C>G c.1188C>G (p.Ala396=) n.2354C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.70166704G= | CA2145077128 | SLC8A3 | c.1719C= (p.Ala573=) n.2473C= c.1188C= (p.Ala396=) n.2354C= | |
14 | g.70166704G>T | CA487244930 | SLC8A3 | c.1719C>A (p.Ala573=) n.2473C>A c.1188C>A (p.Ala396=) n.2354C>A | |
14 | g.70166705G>A | CA390208082 | SLC8A3 | c.1718C>T (p.Ala573Val) n.2472C>T c.1187C>T (p.Ala396Val) n.2353C>T | gnomAD v4 |
14 | g.70166705G>C | CA390208083 | SLC8A3 | c.1718C>G (p.Ala573Gly) n.2472C>G c.1187C>G (p.Ala396Gly) n.2353C>G | |
14 | g.70166705G>T | CA390208084 | SLC8A3 | c.1718C>A (p.Ala573Asp) n.2472C>A c.1187C>A (p.Ala396Asp) n.2353C>A | |
14 | g.70166706C>A | CA390208085 | SLC8A3 | c.1717G>T (p.Ala573Ser) n.2471G>T c.1186G>T (p.Ala396Ser) n.2352G>T | |
14 | g.70166706C>G | CA390208086 | SLC8A3 | c.1717G>C (p.Ala573Pro) n.2471G>C c.1186G>C (p.Ala396Pro) n.2352G>C | |
14 | g.70166706C>T | CA390208087 | SLC8A3 | c.1717G>A (p.Ala573Thr) n.2471G>A c.1186G>A (p.Ala396Thr) n.2352G>A | COSMIC COSMIC |
14 | g.70166707T>A | CA487244932 | SLC8A3 | c.1716A>T (p.Thr572=) n.2470A>T c.1185A>T (p.Thr395=) n.2351A>T | |
14 | g.70166707T>C | CA487244933 | SLC8A3 | c.1716A>G (p.Thr572=) n.2470A>G c.1185A>G (p.Thr395=) n.2351A>G | |
14 | g.70166707T>G | CA487244934 | SLC8A3 | c.1716A>C (p.Thr572=) n.2470A>C c.1185A>C (p.Thr395=) n.2351A>C | gnomAD v4 |
14 | g.70166708G>A | CA390208088 | SLC8A3 | c.1715C>T (p.Thr572Ile) n.2469C>T c.1184C>T (p.Thr395Ile) n.2350C>T | |
14 | g.70166708G>C | CA390208089 | SLC8A3 | c.1715C>G (p.Thr572Arg) n.2469C>G c.1184C>G (p.Thr395Arg) n.2350C>G | |
14 | g.70166708G>T | CA390208090 | SLC8A3 | c.1715C>A (p.Thr572Lys) n.2469C>A c.1184C>A (p.Thr395Lys) n.2350C>A | |
14 | g.70166709T>A | CA390208091 | SLC8A3 | c.1714A>T (p.Thr572Ser) n.2468A>T c.1183A>T (p.Thr395Ser) n.2349A>T | |
14 | g.70166709T>C | CA390208093 | SLC8A3 | c.1714A>G (p.Thr572Ala) n.2468A>G c.1183A>G (p.Thr395Ala) n.2349A>G | |
14 | g.70166709T>G | CA390208092 | SLC8A3 | c.1714A>C (p.Thr572Pro) n.2468A>C c.1183A>C (p.Thr395Pro) n.2349A>C | |
14 | g.70166709_70166711delinsTCC | CA2145077129 | SLC8A3 | c.1712_1714delinsGGA (p.Gly571=) n.2466_2468delinsGGA c.1181_1183delinsGGA (p.Gly394=) n.2347_2349delinsGGA | |
14 | g.70166710C>A | CA487244935 | SLC8A3 | c.1713G>T (p.Gly571=) n.2467G>T c.1182G>T (p.Gly394=) n.2348G>T | |
14 | g.70166710C= | CA2145077131 | SLC8A3 | c.1713G= (p.Gly571=) n.2467G= c.1182G= (p.Gly394=) n.2348G= | |
14 | g.70166710C>G | CA7247200 | SLC8A3 | c.1713G>C (p.Gly571=) n.2467G>C c.1182G>C (p.Gly394=) n.2348G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.70166710C>T | CA487244936 | SLC8A3 | c.1713G>A (p.Gly571=) n.2467G>A c.1182G>A (p.Gly394=) n.2348G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.70166711_70166712del | CA2145077130 | SLC8A3 | c.1712_1713del (p.Gly571AspfsTer7) n.2466_2467del c.1181_1182del (p.Gly394AspfsTer7) n.2347_2348del | dbSNP |
14 | g.70166711C>A | CA390208094 | SLC8A3 | c.1712G>T (p.Gly571Val) n.2466G>T c.1181G>T (p.Gly394Val) n.2347G>T | |
14 | g.70166711C= | CA2145077132 | SLC8A3 | c.1712G= (p.Gly571=) n.2466G= c.1181G= (p.Gly394=) n.2347G= | |
14 | g.70166711C>G | CA390208095 | SLC8A3 | c.1712G>C (p.Gly571Ala) n.2466G>C c.1181G>C (p.Gly394Ala) n.2347G>C | |
14 | g.70166711C>T | CA390208096 | SLC8A3 | c.1712G>A (p.Gly571Glu) n.2466G>A c.1181G>A (p.Gly394Glu) n.2347G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.70166712C>A | CA390208097 | SLC8A3 | c.1711G>T (p.Gly571Trp) n.2465G>T c.1180G>T (p.Gly394Trp) n.2346G>T | |
14 | g.70166712C>G | CA390208098 | SLC8A3 | c.1711G>C (p.Gly571Arg) n.2465G>C c.1180G>C (p.Gly394Arg) n.2346G>C | |
14 | g.70166712C>T | CA390208099 | SLC8A3 | c.1711G>A (p.Gly571Arg) n.2465G>A c.1180G>A (p.Gly394Arg) n.2346G>A | COSMIC COSMIC |
14 | g.70166713T>A | CA390208101 | SLC8A3 | c.1710A>T (p.Glu570Asp) n.2464A>T c.1179A>T (p.Glu393Asp) n.2345A>T | |
14 | g.70166713T>C | CA487244937 | SLC8A3 | c.1710A>G (p.Glu570=) n.2464A>G c.1179A>G (p.Glu393=) n.2345A>G | |
14 | g.70166713T>G | CA390208100 | SLC8A3 | c.1710A>C (p.Glu570Asp) n.2464A>C c.1179A>C (p.Glu393Asp) n.2345A>C | |
14 | g.70166714T>A | CA390208102 | SLC8A3 | c.1709A>T (p.Glu570Val) n.2463A>T c.1178A>T (p.Glu393Val) n.2344A>T | |
14 | g.70166714T>C | CA390208103 | SLC8A3 | c.1709A>G (p.Glu570Gly) n.2463A>G c.1178A>G (p.Glu393Gly) n.2344A>G | |
14 | g.70166714T>G | CA390208104 | SLC8A3 | c.1709A>C (p.Glu570Ala) n.2463A>C c.1178A>C (p.Glu393Ala) n.2344A>C | |
14 | g.70166714_70166715delinsTC | CA2145077133 | SLC8A3 | c.1708_1709delinsGA (p.Glu570=) n.2462_2463delinsGA c.1177_1178delinsGA (p.Glu393=) n.2343_2344delinsGA | |
14 | g.70166715del | CA2145077134 | SLC8A3 | c.1708del (p.Glu570LysfsTer?) c.1708del (p.Glu570LysfsTer26) n.2462del c.1177del (p.Glu393LysfsTer?) n.2343del | dbSNP |
14 | g.70166715C>A | CA390208105 | SLC8A3 | c.1708G>T (p.Glu570Ter) n.2462G>T c.1177G>T (p.Glu393Ter) n.2343G>T | |
14 | g.70166715C>G | CA390208106 | SLC8A3 | c.1708G>C (p.Glu570Gln) n.2462G>C c.1177G>C (p.Glu393Gln) n.2343G>C | |
14 | g.70166715C>T | CA390208107 | SLC8A3 | c.1708G>A (p.Glu570Lys) n.2462G>A c.1177G>A (p.Glu393Lys) n.2343G>A | gnomAD v4 |
14 | g.70166716T>A | CA487244938 | SLC8A3 | c.1707A>T (p.Val569=) n.2461A>T c.1176A>T (p.Val392=) n.2342A>T | |
14 | g.70166716T>C | CA487244940 | SLC8A3 | c.1707A>G (p.Val569=) n.2461A>G c.1176A>G (p.Val392=) n.2342A>G | |
14 | g.70166716T>G | CA487244939 | SLC8A3 | c.1707A>C (p.Val569=) n.2461A>C c.1176A>C (p.Val392=) n.2342A>C | |
14 | g.70166716_70166717delinsTA | CA2145077135 | SLC8A3 | c.1706_1707delinsTA (p.Val569=) n.2460_2461delinsTA c.1175_1176delinsTA (p.Val392=) n.2341_2342delinsTA | |
14 | g.70166717del | CA2145077136 | SLC8A3 | c.1706del (p.Val569GlufsTer?) c.1706del (p.Val569GlufsTer27) n.2460del c.1175del (p.Val392GlufsTer?) n.2341del | dbSNP |
14 | g.70166717A>C | CA390208108 | SLC8A3 | c.1706T>G (p.Val569Gly) n.2460T>G c.1175T>G (p.Val392Gly) n.2341T>G | |
14 | g.70166717A>G | CA390208110 | SLC8A3 | c.1706T>C (p.Val569Ala) n.2460T>C c.1175T>C (p.Val392Ala) n.2341T>C | COSMIC COSMIC |
14 | g.70166717A>T | CA390208109 | SLC8A3 | c.1706T>A (p.Val569Glu) n.2460T>A c.1175T>A (p.Val392Glu) n.2341T>A | |
14 | g.70166718C>A | CA390208111 | SLC8A3 | c.1705G>T (p.Val569Leu) n.2459G>T c.1174G>T (p.Val392Leu) n.2340G>T | |
14 | g.70166718C>G | CA390208112 | SLC8A3 | c.1705G>C (p.Val569Leu) n.2459G>C c.1174G>C (p.Val392Leu) n.2340G>C | |
14 | g.70166718C>T | CA390208113 | SLC8A3 | c.1705G>A (p.Val569Ile) n.2459G>A c.1174G>A (p.Val392Ile) n.2340G>A | gnomAD v4 |
14 | g.70166719T>A | CA487244941 | SLC8A3 | c.1704A>T (p.Thr568=) n.2458A>T c.1173A>T (p.Thr391=) n.2339A>T | |
14 | g.70166719T>C | CA487244942 | SLC8A3 | c.1704A>G (p.Thr568=) n.2458A>G c.1173A>G (p.Thr391=) n.2339A>G | |
14 | g.70166719T>G | CA487244943 | SLC8A3 | c.1704A>C (p.Thr568=) n.2458A>C c.1173A>C (p.Thr391=) n.2339A>C | |
14 | g.70166720G>A | CA390208114 | SLC8A3 | c.1703C>T (p.Thr568Ile) n.2457C>T c.1172C>T (p.Thr391Ile) n.2338C>T | |
14 | g.70166720G>C | CA390208115 | SLC8A3 | c.1703C>G (p.Thr568Arg) n.2457C>G c.1172C>G (p.Thr391Arg) n.2338C>G | |
14 | g.70166720G>T | CA390208116 | SLC8A3 | c.1703C>A (p.Thr568Lys) n.2457C>A c.1172C>A (p.Thr391Lys) n.2338C>A | |
14 | g.70166721T>A | CA390208117 | SLC8A3 | c.1702A>T (p.Thr568Ser) n.2456A>T c.1171A>T (p.Thr391Ser) n.2337A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.70166721T>C | CA390208118 | SLC8A3 | c.1702A>G (p.Thr568Ala) n.2456A>G c.1171A>G (p.Thr391Ala) n.2337A>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.70166721T>G | CA390208119 | SLC8A3 | c.1702A>C (p.Thr568Pro) n.2456A>C c.1171A>C (p.Thr391Pro) n.2337A>C | |
14 | g.70166721T= | CA2145077137 | SLC8A3 | c.1702A= (p.Thr568=) n.2456A= c.1171A= (p.Thr391=) n.2337A= | |
14 | g.70166722C>A | CA390208120 | SLC8A3 | c.1701G>T (p.Arg567Ser) n.2455G>T c.1170G>T (p.Arg390Ser) n.2336G>T | |
14 | g.70166722C>G | CA390208121 | SLC8A3 | c.1701G>C (p.Arg567Ser) n.2455G>C c.1170G>C (p.Arg390Ser) n.2336G>C | |
14 | g.70166722C>T | CA487244944 | SLC8A3 | c.1701G>A (p.Arg567=) n.2455G>A c.1170G>A (p.Arg390=) n.2336G>A | |
14 | g.70166723C>A | CA390208122 | SLC8A3 | c.1700G>T (p.Arg567Met) n.2454G>T c.1169G>T (p.Arg390Met) n.2335G>T | |
14 | g.70166723C>G | CA390208124 | SLC8A3 | c.1700G>C (p.Arg567Thr) n.2454G>C c.1169G>C (p.Arg390Thr) n.2335G>C | |
14 | g.70166723C>T | CA390208123 | SLC8A3 | c.1700G>A (p.Arg567Lys) n.2454G>A c.1169G>A (p.Arg390Lys) n.2335G>A | |
14 | g.70166724T>A | CA390208125 | SLC8A3 | c.1699A>T (p.Arg567Trp) n.2453A>T c.1168A>T (p.Arg390Trp) n.2334A>T | |
14 | g.70166724T>C | CA390208126 | SLC8A3 | c.1699A>G (p.Arg567Gly) n.2453A>G c.1168A>G (p.Arg390Gly) n.2334A>G | |
14 | g.70166724T>G | CA487244945 | SLC8A3 | c.1699A>C (p.Arg567=) n.2453A>C c.1168A>C (p.Arg390=) n.2334A>C | |
14 | g.70166725A= | CA2145077138 | SLC8A3 | c.1698T= (p.Phe566=) n.2452T= c.1167T= (p.Phe389=) n.2333T= | |
14 | g.70166725A>C | CA390208127 | SLC8A3 | c.1698T>G (p.Phe566Leu) n.2452T>G c.1167T>G (p.Phe389Leu) n.2333T>G | |
14 | g.70166725A>G | CA487244946 | SLC8A3 | c.1698T>C (p.Phe566=) n.2452T>C c.1167T>C (p.Phe389=) n.2333T>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.70166725A>T | CA390208128 | SLC8A3 | c.1698T>A (p.Phe566Leu) n.2452T>A c.1167T>A (p.Phe389Leu) n.2333T>A | |
14 | g.70166726A>C | CA390208129 | SLC8A3 | c.1697T>G (p.Phe566Cys) n.2451T>G c.1166T>G (p.Phe389Cys) n.2332T>G | |
14 | g.70166726A>G | CA390208130 | SLC8A3 | c.1697T>C (p.Phe566Ser) n.2451T>C c.1166T>C (p.Phe389Ser) n.2332T>C | |
14 | g.70166726A>T | CA390208131 | SLC8A3 | c.1697T>A (p.Phe566Tyr) n.2451T>A c.1166T>A (p.Phe389Tyr) n.2332T>A | |
14 | g.70166727A= | CA2145077139 | SLC8A3 | c.1696T= (p.Phe566=) n.2450T= c.1165T= (p.Phe389=) n.2331T= | |
14 | g.70166727A>C | CA390208132 | SLC8A3 | c.1696T>G (p.Phe566Val) n.2450T>G c.1165T>G (p.Phe389Val) n.2331T>G | |
14 | g.70166727A>G | CA390208133 | SLC8A3 | c.1696T>C (p.Phe566Leu) n.2450T>C c.1165T>C (p.Phe389Leu) n.2331T>C | |
14 | g.70166727A>T | CA262995032 | SLC8A3 | c.1696T>A (p.Phe566Ile) n.2450T>A c.1165T>A (p.Phe389Ile) n.2331T>A | dbSNP |
14 | g.70166728G>A | CA487244947 | SLC8A3 | c.1695C>T (p.Pro565=) n.2449C>T c.1164C>T (p.Pro388=) n.2330C>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.70166728G>C | CA487244948 | SLC8A3 | c.1695C>G (p.Pro565=) n.2449C>G c.1164C>G (p.Pro388=) n.2330C>G | |
14 | g.70166728G= | CA2145077140 | SLC8A3 | c.1695C= (p.Pro565=) n.2449C= c.1164C= (p.Pro388=) n.2330C= | |
14 | g.70166728G>T | CA487244949 | SLC8A3 | c.1695C>A (p.Pro565=) n.2449C>A c.1164C>A (p.Pro388=) n.2330C>A | |
14 | g.70166729G>A | CA390208134 | SLC8A3 | c.1694C>T (p.Pro565Leu) n.2448C>T c.1163C>T (p.Pro388Leu) n.2329C>T | COSMIC COSMIC |
14 | g.70166729G>C | CA390208135 | SLC8A3 | c.1694C>G (p.Pro565Arg) n.2448C>G c.1163C>G (p.Pro388Arg) n.2329C>G | |
14 | g.70166729G>T | CA390208136 | SLC8A3 | c.1694C>A (p.Pro565His) n.2448C>A c.1163C>A (p.Pro388His) n.2329C>A | |
14 | g.70166730G>A | CA7247201 | SLC8A3 | c.1693C>T (p.Pro565Ser) n.2447C>T c.1162C>T (p.Pro388Ser) n.2328C>T | dbSNP ExAC gnomAD v2 COSMIC COSMIC |
14 | g.70166730G>C | CA390208138 | SLC8A3 | c.1693C>G (p.Pro565Ala) n.2447C>G c.1162C>G (p.Pro388Ala) n.2328C>G | |
14 | g.70166730G= | CA2145077141 | SLC8A3 | c.1693C= (p.Pro565=) n.2447C= c.1162C= (p.Pro388=) n.2328C= | |
14 | g.70166730G>T | CA390208137 | SLC8A3 | c.1693C>A (p.Pro565Thr) n.2447C>A c.1162C>A (p.Pro388Thr) n.2328C>A | |
14 | g.70166731G>A | CA7247202 | SLC8A3 | c.1692C>T (p.Val564=) n.2446C>T c.1161C>T (p.Val387=) n.2327C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.70166731G>C | CA487244950 | SLC8A3 | c.1692C>G (p.Val564=) n.2446C>G c.1161C>G (p.Val387=) n.2327C>G | |
14 | g.70166731G= | CA2145077142 | SLC8A3 | c.1692C= (p.Val564=) n.2446C= c.1161C= (p.Val387=) n.2327C= | |
14 | g.70166731G>T | CA487244951 | SLC8A3 | c.1692C>A (p.Val564=) n.2446C>A c.1161C>A (p.Val387=) n.2327C>A | |
14 | g.70166732A= | CA2145077143 | SLC8A3 | c.1691T= (p.Val564=) n.2445T= c.1160T= (p.Val387=) n.2326T= | |
14 | g.70166732A>C | CA390208139 | SLC8A3 | c.1691T>G (p.Val564Gly) n.2445T>G c.1160T>G (p.Val387Gly) n.2326T>G | |
14 | g.70166732A>G | CA390208140 | SLC8A3 | c.1691T>C (p.Val564Ala) n.2445T>C c.1160T>C (p.Val387Ala) n.2326T>C | |
14 | g.70166732A>T | CA262995044 | SLC8A3 | c.1691T>A (p.Val564Asp) n.2445T>A c.1160T>A (p.Val387Asp) n.2326T>A | dbSNP |
14 | g.70166733C>A | CA390208141 | SLC8A3 | c.1690G>T (p.Val564Phe) n.2444G>T c.1159G>T (p.Val387Phe) n.2325G>T | dbSNP |
14 | g.70166733C= | CA2145077144 | SLC8A3 | c.1690G= (p.Val564=) n.2444G= c.1159G= (p.Val387=) n.2325G= | |
14 | g.70166733C>G | CA390208142 | SLC8A3 | c.1690G>C (p.Val564Leu) n.2444G>C c.1159G>C (p.Val387Leu) n.2325G>C | |
14 | g.70166733C>T | CA174800 | SLC8A3 | c.1690G>A (p.Val564Ile) n.2444G>A c.1159G>A (p.Val387Ile) n.2325G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.70166734G>A | CA7247203 | SLC8A3 | c.1689C>T (p.Ile563=) n.2443C>T c.1158C>T (p.Ile386=) n.2324C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
14 | g.70166734G>C | CA390208143 | SLC8A3 | c.1689C>G (p.Ile563Met) n.2443C>G c.1158C>G (p.Ile386Met) n.2324C>G | |
14 | g.70166734G= | CA2145077145 | SLC8A3 | c.1689C= (p.Ile563=) n.2443C= c.1158C= (p.Ile386=) n.2324C= | |
14 | g.70166734G>T | CA487244952 | SLC8A3 | c.1689C>A (p.Ile563=) n.2443C>A c.1158C>A (p.Ile386=) n.2324C>A | gnomAD v4 |
14 | g.70166735A>C | CA390208146 | SLC8A3 | c.1688T>G (p.Ile563Ser) n.2442T>G c.1157T>G (p.Ile386Ser) n.2323T>G | |
14 | g.70166735A>G | CA390208145 | SLC8A3 | c.1688T>C (p.Ile563Thr) n.2442T>C c.1157T>C (p.Ile386Thr) n.2323T>C | |
14 | g.70166735A>T | CA390208144 | SLC8A3 | c.1688T>A (p.Ile563Asn) n.2442T>A c.1157T>A (p.Ile386Asn) n.2323T>A | |
14 | g.70166736T>A | CA390208147 | SLC8A3 | c.1687A>T (p.Ile563Phe) n.2441A>T c.1156A>T (p.Ile386Phe) n.2322A>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.70166736T>C | CA390208148 | SLC8A3 | c.1687A>G (p.Ile563Val) n.2441A>G c.1156A>G (p.Ile386Val) n.2322A>G | |
14 | g.70166736T>G | CA390208149 | SLC8A3 | c.1687A>C (p.Ile563Leu) n.2441A>C c.1156A>C (p.Ile386Leu) n.2322A>C | |
14 | g.70166736T= | CA2145077146 | SLC8A3 | c.1687A= (p.Ile563=) n.2441A= c.1156A= (p.Ile386=) n.2322A= | |
14 | g.70166737G>A | CA487244953 | SLC8A3 | c.1686C>T (p.Val562=) n.2440C>T c.1155C>T (p.Val385=) n.2321C>T | |
14 | g.70166737G>C | CA487244954 | SLC8A3 | c.1686C>G (p.Val562=) n.2440C>G c.1155C>G (p.Val385=) n.2321C>G | |
14 | g.70166737G>T | CA487244955 | SLC8A3 | c.1686C>A (p.Val562=) n.2440C>A c.1155C>A (p.Val385=) n.2321C>A | |
14 | g.70166738A= | CA2145077147 | SLC8A3 | c.1685T= (p.Val562=) n.2439T= c.1154T= (p.Val385=) n.2320T= | |
14 | g.70166738A>C | CA390208150 | SLC8A3 | c.1685T>G (p.Val562Gly) n.2439T>G c.1154T>G (p.Val385Gly) n.2320T>G | |
14 | g.70166738A>G | CA390208151 | SLC8A3 | c.1685T>C (p.Val562Ala) n.2439T>C c.1154T>C (p.Val385Ala) n.2320T>C | gnomAD v4 |
14 | g.70166738A>T | CA390208152 | SLC8A3 | c.1685T>A (p.Val562Asp) n.2439T>A c.1154T>A (p.Val385Asp) n.2320T>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.70166739C>A | CA390208155 | SLC8A3 | c.1684G>T (p.Val562Phe) n.2438G>T c.1153G>T (p.Val385Phe) n.2319G>T | |
14 | g.70166739C>G | CA390208154 | SLC8A3 | c.1684G>C (p.Val562Leu) n.2438G>C c.1153G>C (p.Val385Leu) n.2319G>C | |
14 | g.70166739C>T | CA390208153 | SLC8A3 | c.1684G>A (p.Val562Ile) n.2438G>A c.1153G>A (p.Val385Ile) n.2319G>A | gnomAD v4 |
14 | g.70166740T>A | CA487244956 | SLC8A3 | c.1683A>T (p.Thr561=) n.2437A>T c.1152A>T (p.Thr384=) n.2318A>T | |
14 | g.70166740T>C | CA487244957 | SLC8A3 | c.1683A>G (p.Thr561=) n.2437A>G c.1152A>G (p.Thr384=) n.2318A>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.70166740T>G | CA487244958 | SLC8A3 | c.1683A>C (p.Thr561=) n.2437A>C c.1152A>C (p.Thr384=) n.2318A>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.70166740T= | CA2145077148 | SLC8A3 | c.1683A= (p.Thr561=) n.2437A= c.1152A= (p.Thr384=) n.2318A= | |
14 | g.70166741G>A | CA390208156 | SLC8A3 | c.1682C>T (p.Thr561Ile) n.2436C>T c.1151C>T (p.Thr384Ile) n.2317C>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.70166741G>C | CA390208157 | SLC8A3 | c.1682C>G (p.Thr561Arg) n.2436C>G c.1151C>G (p.Thr384Arg) n.2317C>G | |
14 | g.70166741G= | CA2145077149 | SLC8A3 | c.1682C= (p.Thr561=) n.2436C= c.1151C= (p.Thr384=) n.2317C= | |
14 | g.70166741G>T | CA390208158 | SLC8A3 | c.1682C>A (p.Thr561Lys) n.2436C>A c.1151C>A (p.Thr384Lys) n.2317C>A | |
14 | g.70166742T>A | CA390208159 | SLC8A3 | c.1681A>T (p.Thr561Ser) n.2435A>T c.1150A>T (p.Thr384Ser) n.2316A>T | |
14 | g.70166742T>C | CA390208160 | SLC8A3 | c.1681A>G (p.Thr561Ala) n.2435A>G c.1150A>G (p.Thr384Ala) n.2316A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.70166742T>G | CA390208161 | SLC8A3 | c.1681A>C (p.Thr561Pro) n.2435A>C c.1150A>C (p.Thr384Pro) n.2316A>C | |
14 | g.70166742T= | CA2145077150 | SLC8A3 | c.1681A= (p.Thr561=) n.2435A= c.1150A= (p.Thr384=) n.2316A= | |
14 | g.70166743A>C | CA487244959 | SLC8A3 | c.1680T>G (p.Gly560=) n.2434T>G c.1149T>G (p.Gly383=) n.2315T>G | |
14 | g.70166743A>G | CA487244960 | SLC8A3 | c.1680T>C (p.Gly560=) n.2434T>C c.1149T>C (p.Gly383=) n.2315T>C | dbSNP |
14 | g.70166743A>T | CA487244961 | SLC8A3 | c.1680T>A (p.Gly560=) n.2434T>A c.1149T>A (p.Gly383=) n.2315T>A | |
14 | g.70166744C>A | CA390208162 | SLC8A3 | c.1679G>T (p.Gly560Val) n.2433G>T c.1148G>T (p.Gly383Val) n.2314G>T | |
14 | g.70166744C= | CA2145077151 | SLC8A3 | c.1679G= (p.Gly560=) n.2433G= c.1148G= (p.Gly383=) n.2314G= | |
14 | g.70166744C>G | CA390208163 | SLC8A3 | c.1679G>C (p.Gly560Ala) n.2433G>C c.1148G>C (p.Gly383Ala) n.2314G>C | |
14 | g.70166744C>T | CA7247204 | SLC8A3 | c.1679G>A (p.Gly560Asp) n.2433G>A c.1148G>A (p.Gly383Asp) n.2314G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.70166745C>A | CA390208164 | SLC8A3 | c.1678G>T (p.Gly560Cys) n.2432G>T c.1147G>T (p.Gly383Cys) n.2313G>T | |
14 | g.70166745C= | CA2145077152 | SLC8A3 | c.1678G= (p.Gly560=) n.2432G= c.1147G= (p.Gly383=) n.2313G= | |
14 | g.70166745C>G | CA390208165 | SLC8A3 | c.1678G>C (p.Gly560Arg) n.2432G>C c.1147G>C (p.Gly383Arg) n.2313G>C | |
14 | g.70166745C>T | CA390208166 | SLC8A3 | c.1678G>A (p.Gly560Ser) n.2432G>A c.1147G>A (p.Gly383Ser) n.2313G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.70166746C>A | CA487244964 | SLC8A3 | c.1677G>T (p.Arg559=) n.2431G>T c.1146G>T (p.Arg382=) n.2312G>T | gnomAD v4 |
14 | g.70166746C>G | CA487244963 | SLC8A3 | c.1677G>C (p.Arg559=) n.2431G>C c.1146G>C (p.Arg382=) n.2312G>C | gnomAD v4 |
14 | g.70166746C>T | CA487244962 | SLC8A3 | c.1677G>A (p.Arg559=) n.2431G>A c.1146G>A (p.Arg382=) n.2312G>A | |
14 | g.70166747C>A | CA390208167 | SLC8A3 | c.1676G>T (p.Arg559Leu) n.2430G>T c.1145G>T (p.Arg382Leu) n.2311G>T | |
14 | g.70166747C= | CA2145077153 | SLC8A3 | c.1676G= (p.Arg559=) n.2430G= c.1145G= (p.Arg382=) n.2311G= | |
14 | g.70166747C>G | CA390208168 | SLC8A3 | c.1676G>C (p.Arg559Pro) n.2430G>C c.1145G>C (p.Arg382Pro) n.2311G>C | |
14 | g.70166747C>T | CA262995089 | SLC8A3 | c.1676G>A (p.Arg559Gln) n.2430G>A c.1145G>A (p.Arg382Gln) n.2311G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.70166748G>A | CA7247205 | SLC8A3 | c.1675C>T (p.Arg559Trp) n.2429C>T c.1144C>T (p.Arg382Trp) n.2310C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.70166748G>C | CA390208169 | SLC8A3 | c.1675C>G (p.Arg559Gly) n.2429C>G c.1144C>G (p.Arg382Gly) n.2310C>G | |
14 | g.70166748G= | CA2145077154 | SLC8A3 | c.1675C= (p.Arg559=) n.2429C= c.1144C= (p.Arg382=) n.2310C= | |
14 | g.70166748G>T | CA487244965 | SLC8A3 | c.1675C>A (p.Arg559=) n.2429C>A c.1144C>A (p.Arg382=) n.2310C>A | |
14 | g.70166749G>A | CA7247206 | SLC8A3 | c.1674C>T (p.Ala558=) n.2428C>T c.1143C>T (p.Ala381=) n.2309C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.70166749G>C | CA487244966 | SLC8A3 | c.1674C>G (p.Ala558=) n.2428C>G c.1143C>G (p.Ala381=) n.2309C>G | |
14 | g.70166749G= | CA2145077155 | SLC8A3 | c.1674C= (p.Ala558=) n.2428C= c.1143C= (p.Ala381=) n.2309C= | |
14 | g.70166749G>T | CA487244967 | SLC8A3 | c.1674C>A (p.Ala558=) n.2428C>A c.1143C>A (p.Ala381=) n.2309C>A | |
14 | g.70166750G>A | CA390208170 | SLC8A3 | c.1673C>T (p.Ala558Val) n.2427C>T c.1142C>T (p.Ala381Val) n.2308C>T | ClinVar dbSNP gnomAD v4 |
14 | g.70166750G>C | CA390208171 | SLC8A3 | c.1673C>G (p.Ala558Gly) n.2427C>G c.1142C>G (p.Ala381Gly) n.2308C>G | gnomAD v4 |
14 | g.70166750G= | CA2145077156 | SLC8A3 | c.1673C= (p.Ala558=) n.2427C= c.1142C= (p.Ala381=) n.2308C= | |
14 | g.70166750G>T | CA390208172 | SLC8A3 | c.1673C>A (p.Ala558Asp) n.2427C>A c.1142C>A (p.Ala381Asp) n.2308C>A | |
14 | g.70166751C>A | CA390208175 | SLC8A3 | c.1672G>T (p.Ala558Ser) n.2426G>T c.1141G>T (p.Ala381Ser) n.2307G>T | |
14 | g.70166751C>G | CA390208173 | SLC8A3 | c.1672G>C (p.Ala558Pro) n.2426G>C c.1141G>C (p.Ala381Pro) n.2307G>C | |
14 | g.70166751C>T | CA390208174 | SLC8A3 | c.1672G>A (p.Ala558Thr) n.2426G>A c.1141G>A (p.Ala381Thr) n.2307G>A | gnomAD v4 |
14 | g.70166752A>C | CA487244968 | SLC8A3 | c.1671T>G (p.Gly557=) n.2425T>G c.1140T>G (p.Gly380=) n.2306T>G | |
14 | g.70166752A>G | CA487244970 | SLC8A3 | c.1671T>C (p.Gly557=) n.2425T>C c.1140T>C (p.Gly380=) n.2306T>C | |
14 | g.70166752A>T | CA487244969 | SLC8A3 | c.1671T>A (p.Gly557=) n.2425T>A c.1140T>A (p.Gly380=) n.2306T>A | |
14 | g.70166753C>A | CA390208176 | SLC8A3 | c.1670G>T (p.Gly557Val) n.2424G>T c.1139G>T (p.Gly380Val) n.2305G>T | |
14 | g.70166753C>G | CA390208177 | SLC8A3 | c.1670G>C (p.Gly557Ala) n.2424G>C c.1139G>C (p.Gly380Ala) n.2305G>C | |
14 | g.70166753C>T | CA390208178 | SLC8A3 | c.1670G>A (p.Gly557Asp) n.2424G>A c.1139G>A (p.Gly380Asp) n.2305G>A | |
14 | g.70166754C>A | CA390208180 | SLC8A3 | c.1669G>T (p.Gly557Cys) n.2423G>T c.1138G>T (p.Gly380Cys) n.2304G>T | |
14 | g.70166754C>G | CA390208182 | SLC8A3 | c.1669G>C (p.Gly557Arg) n.2423G>C c.1138G>C (p.Gly380Arg) n.2304G>C | |
14 | g.70166754C>T | CA390208184 | SLC8A3 | c.1669G>A (p.Gly557Ser) n.2423G>A c.1138G>A (p.Gly380Ser) n.2304G>A | |
14 | g.70166755T>A | CA487244971 | SLC8A3 | c.1668A>T (p.Ser556=) n.2422A>T c.1137A>T (p.Ser379=) n.2303A>T | |
14 | g.70166755T>C | CA487244972 | SLC8A3 | c.1668A>G (p.Ser556=) n.2422A>G c.1137A>G (p.Ser379=) n.2303A>G | |
14 | g.70166755T>G | CA487244973 | SLC8A3 | c.1668A>C (p.Ser556=) n.2422A>C c.1137A>C (p.Ser379=) n.2303A>C | |
14 | g.70166756G>A | CA390208186 | SLC8A3 | c.1667C>T (p.Ser556Leu) n.2421C>T c.1136C>T (p.Ser379Leu) n.2302C>T | |
14 | g.70166756G>C | CA390208188 | SLC8A3 | c.1667C>G (p.Ser556Ter) n.2421C>G c.1136C>G (p.Ser379Ter) n.2302C>G | |
14 | g.70166756G>T | CA390208190 | SLC8A3 | c.1667C>A (p.Ser556Ter) n.2421C>A c.1136C>A (p.Ser379Ter) n.2302C>A | |
14 | g.70166757A>C | CA390208192 | SLC8A3 | c.1666T>G (p.Ser556Ala) n.2420T>G c.1135T>G (p.Ser379Ala) n.2301T>G | |
14 | g.70166757A>G | CA390208194 | SLC8A3 | c.1666T>C (p.Ser556Pro) n.2420T>C c.1135T>C (p.Ser379Pro) n.2301T>C | |
14 | g.70166757A>T | CA390208196 | SLC8A3 | c.1666T>A (p.Ser556Thr) n.2420T>A c.1135T>A (p.Ser379Thr) n.2301T>A | |
14 | g.70166758T>A | CA487244976 | SLC8A3 | c.1665A>T (p.Thr555=) n.2419A>T c.1134A>T (p.Thr378=) n.2300A>T | |
14 | g.70166758T>C | CA487244974 | SLC8A3 | c.1665A>G (p.Thr555=) n.2419A>G c.1134A>G (p.Thr378=) n.2300A>G | |
14 | g.70166758T>G | CA487244975 | SLC8A3 | c.1665A>C (p.Thr555=) n.2419A>C c.1134A>C (p.Thr378=) n.2300A>C | |
14 | g.70166759G>A | CA7247207 | SLC8A3 | c.1664C>T (p.Thr555Ile) n.2418C>T c.1133C>T (p.Thr378Ile) n.2299C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.70166759G>C | CA390208200 | SLC8A3 | c.1664C>G (p.Thr555Arg) n.2418C>G c.1133C>G (p.Thr378Arg) n.2299C>G | |
14 | g.70166759G= | CA2145077157 | SLC8A3 | c.1664C= (p.Thr555=) n.2418C= c.1133C= (p.Thr378=) n.2299C= | |
14 | g.70166759G>T | CA390208198 | SLC8A3 | c.1664C>A (p.Thr555Lys) n.2418C>A c.1133C>A (p.Thr378Lys) n.2299C>A | gnomAD v4 |
14 | g.70166760T>A | CA390208204 | SLC8A3 | c.1663A>T (p.Thr555Ser) n.2417A>T c.1132A>T (p.Thr378Ser) n.2298A>T | |
14 | g.70166760T>C | CA390208205 | SLC8A3 | c.1663A>G (p.Thr555Ala) n.2417A>G c.1132A>G (p.Thr378Ala) n.2298A>G | gnomAD v4 |
14 | g.70166760T>G | CA390208207 | SLC8A3 | c.1663A>C (p.Thr555Pro) n.2417A>C c.1132A>C (p.Thr378Pro) n.2298A>C | dbSNP |
14 | g.70166760T= | CA2145077158 | SLC8A3 | c.1663A= (p.Thr555=) n.2417A= c.1132A= (p.Thr378=) n.2298A= | |
14 | g.70166761C>A | CA487244977 | SLC8A3 | c.1662G>T (p.Arg554=) n.2416G>T c.1131G>T (p.Arg377=) n.2297G>T | |
14 | g.70166761C= | CA2145077159 | SLC8A3 | c.1662G= (p.Arg554=) n.2416G= c.1131G= (p.Arg377=) n.2297G= | |
14 | g.70166761C>G | CA487244978 | SLC8A3 | c.1662G>C (p.Arg554=) n.2416G>C c.1131G>C (p.Arg377=) n.2297G>C | |
14 | g.70166761C>T | CA487244979 | SLC8A3 | c.1662G>A (p.Arg554=) n.2416G>A c.1131G>A (p.Arg377=) n.2297G>A | dbSNP |
14 | g.70166762C>A | CA390208209 | SLC8A3 | c.1661G>T (p.Arg554Leu) n.2415G>T c.1130G>T (p.Arg377Leu) n.2296G>T | COSMIC |
14 | g.70166762C= | CA2145077160 | SLC8A3 | c.1661G= (p.Arg554=) n.2415G= c.1130G= (p.Arg377=) n.2296G= | |
14 | g.70166762C>G | CA390208211 | SLC8A3 | c.1661G>C (p.Arg554Pro) n.2415G>C c.1130G>C (p.Arg377Pro) n.2296G>C | |
14 | g.70166762C>T | CA262995128 | SLC8A3 | c.1661G>A (p.Arg554Gln) n.2415G>A c.1130G>A (p.Arg377Gln) n.2296G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
14 | g.70166763G>A | CA7247208 | SLC8A3 | c.1660C>T (p.Arg554Trp) n.2414C>T c.1129C>T (p.Arg377Trp) n.2295C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.70166763G>C | CA390208215 | SLC8A3 | c.1660C>G (p.Arg554Gly) n.2414C>G c.1129C>G (p.Arg377Gly) n.2295C>G | |
14 | g.70166763G= | CA2145077161 | SLC8A3 | c.1660C= (p.Arg554=) n.2414C= c.1129C= (p.Arg377=) n.2295C= | |
14 | g.70166763G>T | CA487244980 | SLC8A3 | c.1660C>A (p.Arg554=) n.2414C>A c.1129C>A (p.Arg377=) n.2295C>A | |
14 | g.70166764C>A | CA487244983 | SLC8A3 | c.1659G>T (p.Leu553=) n.2413G>T c.1128G>T (p.Leu376=) n.2294G>T | |
14 | g.70166764C>G | CA487244981 | SLC8A3 | c.1659G>C (p.Leu553=) n.2413G>C c.1128G>C (p.Leu376=) n.2294G>C | |
14 | g.70166764C>T | CA487244982 | SLC8A3 | c.1659G>A (p.Leu553=) n.2413G>A c.1128G>A (p.Leu376=) n.2294G>A |