| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44220272C>G | CA4240093 | CAMK2B | c.818G>C c.1032G>C (p.Pro344=) n.1492G>C c.1341G>C (p.Pro447=) c.402G>C c.1476G>C (p.Pro492=) c.792G>C c.960G>C (p.Pro320=) c.1288G>C c.987G>C (p.Pro329=) c.1421G>C c.1301G>C c.*1648G>C (n.*1648G>C) c.1419G>C (p.Pro473=) n.1920G>C c.1432G>C c.954G>C (p.Pro318=) n.1164G>C c.957G>C (p.Pro319=) c.1216G>C (p.Asp406His) c.1791G>C (p.Pro597=) c.1344G>C (p.Pro448=) c.1140G>C (p.Pro380=) c.1269G>C (p.Pro423=) c.*212G>C (n.*212G>C) c.1230G>C (p.Pro410=) c.1302G>C (p.Pro434=) c.1347G>C (p.Pro449=) c.345G>C (p.Pro115=) n.246G>C n.1875G>C n.1670G>C c.*1074G>C (n.*1074G>C) c.1374G>C (p.Pro458=) c.1275G>C (p.Pro425=) c.1671G>C (p.Pro557=) c.1920G>C (p.Pro640=) c.1875G>C (p.Pro625=) c.1848G>C (p.Pro616=) c.1845G>C (p.Pro615=) c.1806G>C (p.Pro602=) c.1800G>C (p.Pro600=) c.1776G>C (p.Pro592=) c.1773G>C (p.Pro591=) c.1533G>C (p.Pro511=) c.1803G>C (p.Pro601=) c.1761G>C (p.Pro587=) c.1602G>C (p.Pro534=) c.1461G>C (p.Pro487=) c.1299G>C (p.Pro433=) c.1272G>C (p.Pro424=) c.915G>C (p.Pro305=) c.1677G>C (p.Pro559=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44220272C>T | CA4240092 | CAMK2B | c.818G>A c.1032G>A (p.Pro344=) n.1492G>A c.1341G>A (p.Pro447=) c.402G>A c.1476G>A (p.Pro492=) c.792G>A c.960G>A (p.Pro320=) c.1288G>A c.987G>A (p.Pro329=) c.1421G>A c.1301G>A c.*1648G>A (n.*1648G>A) c.1419G>A (p.Pro473=) n.1920G>A c.1432G>A c.954G>A (p.Pro318=) n.1164G>A c.957G>A (p.Pro319=) c.1216G>A (p.Asp406Asn) c.1791G>A (p.Pro597=) c.1344G>A (p.Pro448=) c.1140G>A (p.Pro380=) c.1269G>A (p.Pro423=) c.*212G>A (n.*212G>A) c.1230G>A (p.Pro410=) c.1302G>A (p.Pro434=) c.1347G>A (p.Pro449=) c.345G>A (p.Pro115=) n.246G>A n.1875G>A n.1670G>A c.*1074G>A (n.*1074G>A) c.1374G>A (p.Pro458=) c.1275G>A (p.Pro425=) c.1671G>A (p.Pro557=) c.1920G>A (p.Pro640=) c.1875G>A (p.Pro625=) c.1848G>A (p.Pro616=) c.1845G>A (p.Pro615=) c.1806G>A (p.Pro602=) c.1800G>A (p.Pro600=) c.1776G>A (p.Pro592=) c.1773G>A (p.Pro591=) c.1533G>A (p.Pro511=) c.1803G>A (p.Pro601=) c.1761G>A (p.Pro587=) c.1602G>A (p.Pro534=) c.1461G>A (p.Pro487=) c.1299G>A (p.Pro433=) c.1272G>A (p.Pro424=) c.915G>A (p.Pro305=) c.1677G>A (p.Pro559=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44220272C= | CA1703668355 | CAMK2B | c.818G= c.1032G= (p.Pro344=) n.1492G= c.1341G= (p.Pro447=) c.402G= c.1476G= (p.Pro492=) c.792G= c.960G= (p.Pro320=) c.1288G= c.987G= (p.Pro329=) c.1421G= c.1301G= c.*1648G= (n.*1648G=) c.1419G= (p.Pro473=) n.1920G= c.1432G= c.954G= (p.Pro318=) n.1164G= c.957G= (p.Pro319=) c.1216G= (p.Asp406=) c.1791G= (p.Pro597=) c.1344G= (p.Pro448=) c.1140G= (p.Pro380=) c.1269G= (p.Pro423=) c.*212G= (n.*212G=) c.1230G= (p.Pro410=) c.1302G= (p.Pro434=) c.1347G= (p.Pro449=) c.345G= (p.Pro115=) n.246G= n.1875G= n.1670G= c.*1074G= (n.*1074G=) c.1374G= (p.Pro458=) c.1275G= (p.Pro425=) c.1671G= (p.Pro557=) c.1920G= (p.Pro640=) c.1875G= (p.Pro625=) c.1848G= (p.Pro616=) c.1845G= (p.Pro615=) c.1806G= (p.Pro602=) c.1800G= (p.Pro600=) c.1776G= (p.Pro592=) c.1773G= (p.Pro591=) c.1533G= (p.Pro511=) c.1803G= (p.Pro601=) c.1761G= (p.Pro587=) c.1602G= (p.Pro534=) c.1461G= (p.Pro487=) c.1299G= (p.Pro433=) c.1272G= (p.Pro424=) c.915G= (p.Pro305=) c.1677G= (p.Pro559=) | dbSNP |
| 7 | g.44220272C>A | CA454608364 | CAMK2B | c.818G>T c.1032G>T (p.Pro344=) n.1492G>T c.1341G>T (p.Pro447=) c.402G>T c.1476G>T (p.Pro492=) c.792G>T c.960G>T (p.Pro320=) c.1288G>T c.987G>T (p.Pro329=) c.1421G>T c.1301G>T c.*1648G>T (n.*1648G>T) c.1419G>T (p.Pro473=) n.1920G>T c.1432G>T c.954G>T (p.Pro318=) n.1164G>T c.957G>T (p.Pro319=) c.1216G>T (p.Asp406Tyr) c.1791G>T (p.Pro597=) c.1344G>T (p.Pro448=) c.1140G>T (p.Pro380=) c.1269G>T (p.Pro423=) c.*212G>T (n.*212G>T) c.1230G>T (p.Pro410=) c.1302G>T (p.Pro434=) c.1347G>T (p.Pro449=) c.345G>T (p.Pro115=) n.246G>T n.1875G>T n.1670G>T c.*1074G>T (n.*1074G>T) c.1374G>T (p.Pro458=) c.1275G>T (p.Pro425=) c.1671G>T (p.Pro557=) c.1920G>T (p.Pro640=) c.1875G>T (p.Pro625=) c.1848G>T (p.Pro616=) c.1845G>T (p.Pro615=) c.1806G>T (p.Pro602=) c.1800G>T (p.Pro600=) c.1776G>T (p.Pro592=) c.1773G>T (p.Pro591=) c.1533G>T (p.Pro511=) c.1803G>T (p.Pro601=) c.1761G>T (p.Pro587=) c.1602G>T (p.Pro534=) c.1461G>T (p.Pro487=) c.1299G>T (p.Pro433=) c.1272G>T (p.Pro424=) c.915G>T (p.Pro305=) c.1677G>T (p.Pro559=) | dbSNP gnomAD v4 |