| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2847767_2847775dup | CA658656097 | KCNQ1,KCNQ1-AS1 | c.1438_1446dup c.1795_1803dup c.1414_1422dup c.199_207dup n.302_310dup n.778-7328_778-7320dup | ClinVar |
| 11 | g.2847767G>A | CA379140175 | KCNQ1,KCNQ1-AS1 | c.1438G>A (p.Val480Met) c.1795G>A (p.Val599Met) c.1414G>A (p.Val472Met) c.199G>A (p.Val67Met) n.302G>A n.778-7325C>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2847767G>C | CA379140176 | KCNQ1,KCNQ1-AS1 | c.1438G>C (p.Val480Leu) c.1795G>C (p.Val599Leu) c.1414G>C (p.Val472Leu) c.199G>C (p.Val67Leu) n.302G>C n.778-7325C>G | gnomAD v4 |
| 11 | g.2847767G= | CA1948349583 | KCNQ1,KCNQ1-AS1 | c.1438G= (p.Val480=) c.1795G= (p.Val599=) c.1414G= (p.Val472=) c.199G= (p.Val67=) n.302G= n.778-7325C= | |
| 11 | g.2847767G>T | CA379140177 | KCNQ1,KCNQ1-AS1 | c.1438G>T (p.Val480Leu) c.1795G>T (p.Val599Leu) c.1414G>T (p.Val472Leu) c.199G>T (p.Val67Leu) n.302G>T n.778-7325C>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.2847768T>A | CA379140178 | KCNQ1,KCNQ1-AS1 | c.1439T>A (p.Val480Glu) c.1796T>A (p.Val599Glu) c.1415T>A (p.Val472Glu) c.200T>A (p.Val67Glu) n.303T>A n.778-7326A>T | gnomAD v4 |
| 11 | g.2847768T>C | CA379140179 | KCNQ1,KCNQ1-AS1 | c.1439T>C (p.Val480Ala) c.1796T>C (p.Val599Ala) c.1415T>C (p.Val472Ala) c.200T>C (p.Val67Ala) n.303T>C n.778-7326A>G | gnomAD v4 |
| 11 | g.2847768T>G | CA379140180 | KCNQ1,KCNQ1-AS1 | c.1439T>G (p.Val480Gly) c.1796T>G (p.Val599Gly) c.1415T>G (p.Val472Gly) c.200T>G (p.Val67Gly) n.303T>G n.778-7326A>C | |
| 11 | g.2847769G>A | CA472465969 | KCNQ1,KCNQ1-AS1 | c.1440G>A (p.Val480=) c.1797G>A (p.Val599=) c.1416G>A (p.Val472=) c.201G>A (p.Val67=) n.304G>A n.778-7327C>T | gnomAD v4 |
| 11 | g.2847769G>C | CA472465972 | KCNQ1,KCNQ1-AS1 | c.1440G>C (p.Val480=) c.1797G>C (p.Val599=) c.1416G>C (p.Val472=) c.201G>C (p.Val67=) n.304G>C n.778-7327C>G | |
| 11 | g.2847769G>T | CA472465974 | KCNQ1,KCNQ1-AS1 | c.1440G>T (p.Val480=) c.1797G>T (p.Val599=) c.1416G>T (p.Val472=) c.201G>T (p.Val67=) n.304G>T n.778-7327C>A | gnomAD v4 |
| 11 | g.2847770A>C | CA379140181 | KCNQ1,KCNQ1-AS1 | c.1441A>C (p.Thr481Pro) c.1798A>C (p.Thr600Pro) c.1417A>C (p.Thr473Pro) c.202A>C (p.Thr68Pro) n.305A>C n.778-7328T>G | |
| 11 | g.2847770A>G | CA379140182 | KCNQ1,KCNQ1-AS1 | c.1441A>G (p.Thr481Ala) c.1798A>G (p.Thr600Ala) c.1417A>G (p.Thr473Ala) c.202A>G (p.Thr68Ala) n.305A>G n.778-7328T>C | gnomAD v4 |
| 11 | g.2847770A>T | CA379140183 | KCNQ1,KCNQ1-AS1 | c.1441A>T (p.Thr481Ser) c.1798A>T (p.Thr600Ser) c.1417A>T (p.Thr473Ser) c.202A>T (p.Thr68Ser) n.305A>T n.778-7328T>A | gnomAD v4 |
| 11 | g.2847771C>A | CA379140184 | KCNQ1,KCNQ1-AS1 | c.1442C>A (p.Thr481Lys) c.1799C>A (p.Thr600Lys) c.1418C>A (p.Thr473Lys) c.203C>A (p.Thr68Lys) n.306C>A n.778-7329G>T | gnomAD v4 |
| 11 | g.2847771C= | CA1948349584 | KCNQ1,KCNQ1-AS1 | c.1442C= (p.Thr481=) c.1799C= (p.Thr600=) c.1418C= (p.Thr473=) c.203C= (p.Thr68=) n.306C= n.778-7329G= | |
| 11 | g.2847771C>G | CA379140185 | KCNQ1,KCNQ1-AS1 | c.1442C>G (p.Thr481Arg) c.1799C>G (p.Thr600Arg) c.1418C>G (p.Thr473Arg) c.203C>G (p.Thr68Arg) n.306C>G n.778-7329G>C | gnomAD v4 |
| 11 | g.2847771C>T | CA006439 | KCNQ1,KCNQ1-AS1 | c.1442C>T (p.Thr481Met) c.1799C>T (p.Thr600Met) c.1418C>T (p.Thr473Met) c.203C>T (p.Thr68Met) n.306C>T n.778-7329G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2847772G>A | CA006446 | KCNQ1,KCNQ1-AS1 | c.1443G>A (p.Thr481=) c.1800G>A (p.Thr600=) c.1419G>A (p.Thr473=) c.204G>A (p.Thr68=) n.307G>A n.778-7330C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2847772G>C | CA472465987 | KCNQ1,KCNQ1-AS1 | c.1443G>C (p.Thr481=) c.1800G>C (p.Thr600=) c.1419G>C (p.Thr473=) c.204G>C (p.Thr68=) n.307G>C n.778-7330C>G | |
| 11 | g.2847772G= | CA1948349585 | KCNQ1,KCNQ1-AS1 | c.1443G= (p.Thr481=) c.1800G= (p.Thr600=) c.1419G= (p.Thr473=) c.204G= (p.Thr68=) n.307G= n.778-7330C= | |
| 11 | g.2847772G>T | CA472465990 | KCNQ1,KCNQ1-AS1 | c.1443G>T (p.Thr481=) c.1800G>T (p.Thr600=) c.1419G>T (p.Thr473=) c.204G>T (p.Thr68=) n.307G>T n.778-7330C>A | gnomAD v4 |
| 11 | g.2847773C>A | CA379140186 | KCNQ1,KCNQ1-AS1 | c.1444C>A (p.Gln482Lys) c.1801C>A (p.Gln601Lys) c.1420C>A (p.Gln474Lys) c.205C>A (p.Gln69Lys) n.308C>A n.778-7331G>T | gnomAD v4 |
| 11 | g.2847773C= | CA1948349586 | KCNQ1,KCNQ1-AS1 | c.1444C= (p.Gln482=) c.1801C= (p.Gln601=) c.1420C= (p.Gln474=) c.205C= (p.Gln69=) n.308C= n.778-7331G= | |
| 11 | g.2847773C>G | CA379140187 | KCNQ1,KCNQ1-AS1 | c.1444C>G (p.Gln482Glu) c.1801C>G (p.Gln601Glu) c.1420C>G (p.Gln474Glu) c.205C>G (p.Gln69Glu) n.308C>G n.778-7331G>C | |
| 11 | g.2847773C>T | CA006452 | KCNQ1,KCNQ1-AS1 | c.1444C>T (p.Gln482Ter) c.1801C>T (p.Gln601Ter) c.1420C>T (p.Gln474Ter) c.205C>T (p.Gln69Ter) n.308C>T n.778-7331G>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.2847774A>C | CA379140188 | KCNQ1,KCNQ1-AS1 | c.1445A>C (p.Gln482Pro) c.1802A>C (p.Gln601Pro) c.1421A>C (p.Gln474Pro) c.206A>C (p.Gln69Pro) n.309A>C n.778-7332T>G | |
| 11 | g.2847774A>G | CA379140189 | KCNQ1,KCNQ1-AS1 | c.1445A>G (p.Gln482Arg) c.1802A>G (p.Gln601Arg) c.1421A>G (p.Gln474Arg) c.206A>G (p.Gln69Arg) n.309A>G n.778-7332T>C | gnomAD v4 |
| 11 | g.2847774A>T | CA379140190 | KCNQ1,KCNQ1-AS1 | c.1445A>T (p.Gln482Leu) c.1802A>T (p.Gln601Leu) c.1421A>T (p.Gln474Leu) c.206A>T (p.Gln69Leu) n.309A>T n.778-7332T>A | |
| 11 | g.2847775G>A | CA472466001 | KCNQ1,KCNQ1-AS1 | c.1446G>A (p.Gln482=) c.1803G>A (p.Gln601=) c.1422G>A (p.Gln474=) c.207G>A (p.Gln69=) n.310G>A n.778-7333C>T | dbSNP gnomAD v4 |
| 11 | g.2847775G>C | CA379140191 | KCNQ1,KCNQ1-AS1 | c.1446G>C (p.Gln482His) c.1803G>C (p.Gln601His) c.1422G>C (p.Gln474His) c.207G>C (p.Gln69His) n.310G>C n.778-7333C>G | |
| 11 | g.2847775G= | CA1948349587 | KCNQ1,KCNQ1-AS1 | c.1446G= (p.Gln482=) c.1803G= (p.Gln601=) c.1422G= (p.Gln474=) c.207G= (p.Gln69=) n.310G= n.778-7333C= | |
| 11 | g.2847775G>T | CA379140192 | KCNQ1,KCNQ1-AS1 | c.1446G>T (p.Gln482His) c.1803G>T (p.Gln601His) c.1422G>T (p.Gln474His) c.207G>T (p.Gln69His) n.310G>T n.778-7333C>A | gnomAD v4 |
| 11 | g.2847776C>A | CA379140193 | KCNQ1,KCNQ1-AS1 | c.1447C>A (p.Leu483Met) c.1804C>A (p.Leu602Met) c.1423C>A (p.Leu475Met) c.208C>A (p.Leu70Met) n.311C>A n.778-7334G>T | gnomAD v4 |
| 11 | g.2847776C>G | CA379140194 | KCNQ1,KCNQ1-AS1 | c.1447C>G (p.Leu483Val) c.1804C>G (p.Leu602Val) c.1423C>G (p.Leu475Val) c.208C>G (p.Leu70Val) n.311C>G n.778-7334G>C | |
| 11 | g.2847776C>T | CA472466003 | KCNQ1,KCNQ1-AS1 | c.1447C>T (p.Leu483=) c.1804C>T (p.Leu602=) c.1423C>T (p.Leu475=) c.208C>T (p.Leu70=) n.311C>T n.778-7334G>A | gnomAD v4 |
| 11 | g.2847777T>A | CA379140195 | KCNQ1,KCNQ1-AS1 | c.1448T>A (p.Leu483Gln) c.1805T>A (p.Leu602Gln) c.1424T>A (p.Leu475Gln) c.209T>A (p.Leu70Gln) n.312T>A n.778-7335A>T | |
| 11 | g.2847777T>C | CA006458 | KCNQ1,KCNQ1-AS1 | c.1448T>C (p.Leu483Pro) c.1805T>C (p.Leu602Pro) c.1424T>C (p.Leu475Pro) c.209T>C (p.Leu70Pro) n.312T>C n.778-7335A>G | ClinVar dbSNP |
| 11 | g.2847777T>G | CA379140196 | KCNQ1,KCNQ1-AS1 | c.1448T>G (p.Leu483Arg) c.1805T>G (p.Leu602Arg) c.1424T>G (p.Leu475Arg) c.209T>G (p.Leu70Arg) n.312T>G n.778-7335A>C | |
| 11 | g.2847777T= | CA1948349588 | KCNQ1,KCNQ1-AS1 | c.1448T= (p.Leu483=) c.1805T= (p.Leu602=) c.1424T= (p.Leu475=) c.209T= (p.Leu70=) n.312T= n.778-7335A= | |
| 11 | g.2847778G>A | CA16606230 | KCNQ1,KCNQ1-AS1 | c.1449G>A (p.Leu483=) c.1806G>A (p.Leu602=) c.1425G>A (p.Leu475=) c.210G>A (p.Leu70=) n.313G>A n.778-7336C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2847778G>C | CA472466009 | KCNQ1,KCNQ1-AS1 | c.1449G>C (p.Leu483=) c.1806G>C (p.Leu602=) c.1425G>C (p.Leu475=) c.210G>C (p.Leu70=) n.313G>C n.778-7336C>G | |
| 11 | g.2847778G= | CA1948349589 | KCNQ1,KCNQ1-AS1 | c.1449G= (p.Leu483=) c.1806G= (p.Leu602=) c.1425G= (p.Leu475=) c.210G= (p.Leu70=) n.313G= n.778-7336C= | |
| 11 | g.2847778G>T | CA472466011 | KCNQ1,KCNQ1-AS1 | c.1449G>T (p.Leu483=) c.1806G>T (p.Leu602=) c.1425G>T (p.Leu475=) c.210G>T (p.Leu70=) n.313G>T n.778-7336C>A | gnomAD v4 |
| 11 | g.2847779del | CA2695213092 | KCNQ1,KCNQ1-AS1 | c.1450del (p.Asp484ThrfsTer?) c.1807del (p.Asp603ThrfsTer?) c.1426del (p.Asp476ThrfsTer?) c.211del (p.Asp71ThrfsTer?) n.314del n.778-7336del | |
| 11 | g.2847779G>A | CA379140199 | KCNQ1,KCNQ1-AS1 | c.1450G>A (p.Asp484Asn) c.1807G>A (p.Asp603Asn) c.1426G>A (p.Asp476Asn) c.211G>A (p.Asp71Asn) n.314G>A n.778-7337C>T | gnomAD v4 |
| 11 | g.2847779G>C | CA379140198 | KCNQ1,KCNQ1-AS1 | c.1450G>C (p.Asp484His) c.1807G>C (p.Asp603His) c.1426G>C (p.Asp476His) c.211G>C (p.Asp71His) n.314G>C n.778-7337C>G | gnomAD v4 |
| 11 | g.2847779G>T | CA379140197 | KCNQ1,KCNQ1-AS1 | c.1450G>T (p.Asp484Tyr) c.1807G>T (p.Asp603Tyr) c.1426G>T (p.Asp476Tyr) c.211G>T (p.Asp71Tyr) n.314G>T n.778-7337C>A | gnomAD v4 |
| 11 | g.2847780A= | CA1948349590 | KCNQ1,KCNQ1-AS1 | c.1451A= (p.Asp484=) c.1808A= (p.Asp603=) c.1427A= (p.Asp476=) c.212A= (p.Asp71=) n.315A= n.778-7338T= | |
| 11 | g.2847780A>C | CA379140200 | KCNQ1,KCNQ1-AS1 | c.1451A>C (p.Asp484Ala) c.1808A>C (p.Asp603Ala) c.1427A>C (p.Asp476Ala) c.212A>C (p.Asp71Ala) n.315A>C n.778-7338T>G |