UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.173855410_173857820delinsGCAACATTTCGGCAACATTCCAACC | CA2740090408 | DARS2 | c.*1254-1256_*1632delinsGCAACATTTCGGCAACATTCCAACC c.1612-1256_*115delinsGCAACATTTCGGCAACATTCCAACC c.*1365-1256_*1743delinsGCAACATTTCGGCAACATTCCAACC c.*819-1256_*1197delinsGCAACATTTCGGCAACATTCCAACC c.*1365-1256_*2519delinsGCAACATTTCGGCAACATTCCAACC c.1522-1256_*115delinsGCAACATTTCGGCAACATTCCAACC c.1192-1256_*115delinsGCAACATTTCGGCAACATTCCAACC c.1522-1256_*1056delinsGCAACATTTCGGCAACATTCCAACC c.1675-1256_*115delinsGCAACATTTCGGCAACATTCCAACC n.497-1256_875delinsGCAACATTTCGGCAACATTCCAACC | ClinVar |
| 1 | g.173857598C>A | CA343767715 | DARS2 | c.*1410C>A (n.*1410C>A) c.1768C>A (p.His590Asn) c.*1521C>A (n.*1521C>A) c.*975C>A (n.*975C>A) c.*2297C>A (n.*2297C>A) c.1678C>A (p.His560Asn) c.1348C>A (p.His450Asn) c.*834C>A (n.*834C>A) c.1831C>A (p.His611Asn) n.653C>A | |
| 1 | g.173857598C= | CA1148229003 | DARS2 | c.*1410C= (n.*1410C=) c.1768C= (p.His590=) c.*1521C= (n.*1521C=) c.*975C= (n.*975C=) c.*2297C= (n.*2297C=) c.1678C= (p.His560=) c.1348C= (p.His450=) c.*834C= (n.*834C=) c.1831C= (p.His611=) n.653C= | |
| 1 | g.173857598C>G | CA343767716 | DARS2 | c.*1410C>G (n.*1410C>G) c.1768C>G (p.His590Asp) c.*1521C>G (n.*1521C>G) c.*975C>G (n.*975C>G) c.*2297C>G (n.*2297C>G) c.1678C>G (p.His560Asp) c.1348C>G (p.His450Asp) c.*834C>G (n.*834C>G) c.1831C>G (p.His611Asp) n.653C>G | |
| 1 | g.173857598C>T | CA1250533 | DARS2 | c.*1410C>T (n.*1410C>T) c.1768C>T (p.His590Tyr) c.*1521C>T (n.*1521C>T) c.*975C>T (n.*975C>T) c.*2297C>T (n.*2297C>T) c.1678C>T (p.His560Tyr) c.1348C>T (p.His450Tyr) c.*834C>T (n.*834C>T) c.1831C>T (p.His611Tyr) n.653C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173857599A= | CA1207913215 | DARS2 | c.*1411A= (n.*1411A=) c.1769A= (p.His590=) c.*1522A= (n.*1522A=) c.*976A= (n.*976A=) c.*2298A= (n.*2298A=) c.1679A= (p.His560=) c.1349A= (p.His450=) c.*835A= (n.*835A=) c.1832A= (p.His611=) n.654A= | |
| 1 | g.173857599A>C | CA343767717 | DARS2 | c.*1411A>C (n.*1411A>C) c.1769A>C (p.His590Pro) c.*1522A>C (n.*1522A>C) c.*976A>C (n.*976A>C) c.*2298A>C (n.*2298A>C) c.1679A>C (p.His560Pro) c.1349A>C (p.His450Pro) c.*835A>C (n.*835A>C) c.1832A>C (p.His611Pro) n.654A>C | |
| 1 | g.173857599A>G | CA343767718 | DARS2 | c.*1411A>G (n.*1411A>G) c.1769A>G (p.His590Arg) c.*1522A>G (n.*1522A>G) c.*976A>G (n.*976A>G) c.*2298A>G (n.*2298A>G) c.1679A>G (p.His560Arg) c.1349A>G (p.His450Arg) c.*835A>G (n.*835A>G) c.1832A>G (p.His611Arg) n.654A>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.173857599A>T | CA343767719 | DARS2 | c.*1411A>T (n.*1411A>T) c.1769A>T (p.His590Leu) c.*1522A>T (n.*1522A>T) c.*976A>T (n.*976A>T) c.*2298A>T (n.*2298A>T) c.1679A>T (p.His560Leu) c.1349A>T (p.His450Leu) c.*835A>T (n.*835A>T) c.1832A>T (p.His611Leu) n.654A>T | |
| 1 | g.173857600T>A | CA32784571 | DARS2 | c.*1412T>A (n.*1412T>A) c.1770T>A (p.His590Gln) c.*1523T>A (n.*1523T>A) c.*977T>A (n.*977T>A) c.*2299T>A (n.*2299T>A) c.1680T>A (p.His560Gln) c.1350T>A (p.His450Gln) c.*836T>A (n.*836T>A) c.1833T>A (p.His611Gln) n.655T>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173857600T>C | CA1250534 | DARS2 | c.*1412T>C (n.*1412T>C) c.1770T>C (p.His590=) c.*1523T>C (n.*1523T>C) c.*977T>C (n.*977T>C) c.*2299T>C (n.*2299T>C) c.1680T>C (p.His560=) c.1350T>C (p.His450=) c.*836T>C (n.*836T>C) c.1833T>C (p.His611=) n.655T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173857600T>G | CA343767720 | DARS2 | c.*1412T>G (n.*1412T>G) c.1770T>G (p.His590Gln) c.*1523T>G (n.*1523T>G) c.*977T>G (n.*977T>G) c.*2299T>G (n.*2299T>G) c.1680T>G (p.His560Gln) c.1350T>G (p.His450Gln) c.*836T>G (n.*836T>G) c.1833T>G (p.His611Gln) n.655T>G | |
| 1 | g.173857600T= | CA1146010671 | DARS2 | c.*1412T= (n.*1412T=) c.1770T= (p.His590=) c.*1523T= (n.*1523T=) c.*977T= (n.*977T=) c.*2299T= (n.*2299T=) c.1680T= (p.His560=) c.1350T= (p.His450=) c.*836T= (n.*836T=) c.1833T= (p.His611=) n.655T= | |
| 1 | g.173857601G>A | CA343767723 | DARS2 | c.*1413G>A (n.*1413G>A) c.1771G>A (p.Asp591Asn) c.*1524G>A (n.*1524G>A) c.*978G>A (n.*978G>A) c.*2300G>A (n.*2300G>A) c.1681G>A (p.Asp561Asn) c.1351G>A (p.Asp451Asn) c.*837G>A (n.*837G>A) c.1834G>A (p.Asp612Asn) n.656G>A | COSMIC |
| 1 | g.173857601G>C | CA343767721 | DARS2 | c.*1413G>C (n.*1413G>C) c.1771G>C (p.Asp591His) c.*1524G>C (n.*1524G>C) c.*978G>C (n.*978G>C) c.*2300G>C (n.*2300G>C) c.1681G>C (p.Asp561His) c.1351G>C (p.Asp451His) c.*837G>C (n.*837G>C) c.1834G>C (p.Asp612His) n.656G>C | |
| 1 | g.173857601G>T | CA343767722 | DARS2 | c.*1413G>T (n.*1413G>T) c.1771G>T (p.Asp591Tyr) c.*1524G>T (n.*1524G>T) c.*978G>T (n.*978G>T) c.*2300G>T (n.*2300G>T) c.1681G>T (p.Asp561Tyr) c.1351G>T (p.Asp451Tyr) c.*837G>T (n.*837G>T) c.1834G>T (p.Asp612Tyr) n.656G>T | |
| 1 | g.173857602A= | CA1207913216 | DARS2 | c.*1414A= (n.*1414A=) c.1772A= (p.Asp591=) c.*1525A= (n.*1525A=) c.*979A= (n.*979A=) c.*2301A= (n.*2301A=) c.1682A= (p.Asp561=) c.1352A= (p.Asp451=) c.*838A= (n.*838A=) c.1835A= (p.Asp612=) n.657A= | |
| 1 | g.173857602A>C | CA343767724 | DARS2 | c.*1414A>C (n.*1414A>C) c.1772A>C (p.Asp591Ala) c.*1525A>C (n.*1525A>C) c.*979A>C (n.*979A>C) c.*2301A>C (n.*2301A>C) c.1682A>C (p.Asp561Ala) c.1352A>C (p.Asp451Ala) c.*838A>C (n.*838A>C) c.1835A>C (p.Asp612Ala) n.657A>C | |
| 1 | g.173857602A>G | CA343767725 | DARS2 | c.*1414A>G (n.*1414A>G) c.1772A>G (p.Asp591Gly) c.*1525A>G (n.*1525A>G) c.*979A>G (n.*979A>G) c.*2301A>G (n.*2301A>G) c.1682A>G (p.Asp561Gly) c.1352A>G (p.Asp451Gly) c.*838A>G (n.*838A>G) c.1835A>G (p.Asp612Gly) n.657A>G | dbSNP |
| 1 | g.173857602A>T | CA343767726 | DARS2 | c.*1414A>T (n.*1414A>T) c.1772A>T (p.Asp591Val) c.*1525A>T (n.*1525A>T) c.*979A>T (n.*979A>T) c.*2301A>T (n.*2301A>T) c.1682A>T (p.Asp561Val) c.1352A>T (p.Asp451Val) c.*838A>T (n.*838A>T) c.1835A>T (p.Asp612Val) n.657A>T | |
| 1 | g.173857603C>A | CA343767727 | DARS2 | c.*1415C>A (n.*1415C>A) c.1773C>A (p.Asp591Glu) c.*1526C>A (n.*1526C>A) c.*980C>A (n.*980C>A) c.*2302C>A (n.*2302C>A) c.1683C>A (p.Asp561Glu) c.1353C>A (p.Asp451Glu) c.*839C>A (n.*839C>A) c.1836C>A (p.Asp612Glu) n.658C>A | |
| 1 | g.173857603C= | CA1207913217 | DARS2 | c.*1415C= (n.*1415C=) c.1773C= (p.Asp591=) c.*1526C= (n.*1526C=) c.*980C= (n.*980C=) c.*2302C= (n.*2302C=) c.1683C= (p.Asp561=) c.1353C= (p.Asp451=) c.*839C= (n.*839C=) c.1836C= (p.Asp612=) n.658C= | |
| 1 | g.173857603C>G | CA343767728 | DARS2 | c.*1415C>G (n.*1415C>G) c.1773C>G (p.Asp591Glu) c.*1526C>G (n.*1526C>G) c.*980C>G (n.*980C>G) c.*2302C>G (n.*2302C>G) c.1683C>G (p.Asp561Glu) c.1353C>G (p.Asp451Glu) c.*839C>G (n.*839C>G) c.1836C>G (p.Asp612Glu) n.658C>G | |
| 1 | g.173857603C>T | CA421811977 | DARS2 | c.*1415C>T (n.*1415C>T) c.1773C>T (p.Asp591=) c.*1526C>T (n.*1526C>T) c.*980C>T (n.*980C>T) c.*2302C>T (n.*2302C>T) c.1683C>T (p.Asp561=) c.1353C>T (p.Asp451=) c.*839C>T (n.*839C>T) c.1836C>T (p.Asp612=) n.658C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.173857604C>A | CA343767729 | DARS2 | c.*1416C>A (n.*1416C>A) c.1774C>A (p.Leu592Ile) c.*1527C>A (n.*1527C>A) c.*981C>A (n.*981C>A) c.*2303C>A (n.*2303C>A) c.1684C>A (p.Leu562Ile) c.1354C>A (p.Leu452Ile) c.*840C>A (n.*840C>A) c.1837C>A (p.Leu613Ile) n.659C>A | |
| 1 | g.173857604C= | CA1141581212 | DARS2 | c.*1416C= (n.*1416C=) c.1774C= (p.Leu592=) c.*1527C= (n.*1527C=) c.*981C= (n.*981C=) c.*2303C= (n.*2303C=) c.1684C= (p.Leu562=) c.1354C= (p.Leu452=) c.*840C= (n.*840C=) c.1837C= (p.Leu613=) n.659C= | |
| 1 | g.173857604C>G | CA343767730 | DARS2 | c.*1416C>G (n.*1416C>G) c.1774C>G (p.Leu592Val) c.*1527C>G (n.*1527C>G) c.*981C>G (n.*981C>G) c.*2303C>G (n.*2303C>G) c.1684C>G (p.Leu562Val) c.1354C>G (p.Leu452Val) c.*840C>G (n.*840C>G) c.1837C>G (p.Leu613Val) n.659C>G | |
| 1 | g.173857604C>T | CA251684 | DARS2 | c.*1416C>T (n.*1416C>T) c.1774C>T (p.Leu592Phe) c.*1527C>T (n.*1527C>T) c.*981C>T (n.*981C>T) c.*2303C>T (n.*2303C>T) c.1684C>T (p.Leu562Phe) c.1354C>T (p.Leu452Phe) c.*840C>T (n.*840C>T) c.1837C>T (p.Leu613Phe) n.659C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173857605del | CA2573694885 | DARS2 | c.*1417del (n.*1417del) c.1775del (p.Leu592ProfsTer2) c.*1528del (n.*1528del) c.*982del (n.*982del) c.*2304del (n.*2304del) c.1685del (p.Leu562ProfsTer2) c.1355del (p.Leu452ProfsTer2) c.*841del (n.*841del) c.1838del (p.Leu613ProfsTer2) n.660del | |
| 1 | g.173857605T>A | CA343767731 | DARS2 | c.*1417T>A (n.*1417T>A) c.1775T>A (p.Leu592His) c.*1528T>A (n.*1528T>A) c.*982T>A (n.*982T>A) c.*2304T>A (n.*2304T>A) c.1685T>A (p.Leu562His) c.1355T>A (p.Leu452His) c.*841T>A (n.*841T>A) c.1838T>A (p.Leu613His) n.660T>A | |
| 1 | g.173857605T>C | CA343767732 | DARS2 | c.*1417T>C (n.*1417T>C) c.1775T>C (p.Leu592Pro) c.*1528T>C (n.*1528T>C) c.*982T>C (n.*982T>C) c.*2304T>C (n.*2304T>C) c.1685T>C (p.Leu562Pro) c.1355T>C (p.Leu452Pro) c.*841T>C (n.*841T>C) c.1838T>C (p.Leu613Pro) n.660T>C | |
| 1 | g.173857605T>G | CA343767733 | DARS2 | c.*1417T>G (n.*1417T>G) c.1775T>G (p.Leu592Arg) c.*1528T>G (n.*1528T>G) c.*982T>G (n.*982T>G) c.*2304T>G (n.*2304T>G) c.1685T>G (p.Leu562Arg) c.1355T>G (p.Leu452Arg) c.*841T>G (n.*841T>G) c.1838T>G (p.Leu613Arg) n.660T>G | |
| 1 | g.173857606C>A | CA421811981 | DARS2 | c.*1418C>A (n.*1418C>A) c.1776C>A (p.Leu592=) c.*1529C>A (n.*1529C>A) c.*983C>A (n.*983C>A) c.*2305C>A (n.*2305C>A) c.1686C>A (p.Leu562=) c.1356C>A (p.Leu452=) c.*842C>A (n.*842C>A) c.1839C>A (p.Leu613=) n.661C>A | |
| 1 | g.173857606C>G | CA421811984 | DARS2 | c.*1418C>G (n.*1418C>G) c.1776C>G (p.Leu592=) c.*1529C>G (n.*1529C>G) c.*983C>G (n.*983C>G) c.*2305C>G (n.*2305C>G) c.1686C>G (p.Leu562=) c.1356C>G (p.Leu452=) c.*842C>G (n.*842C>G) c.1839C>G (p.Leu613=) n.661C>G | |
| 1 | g.173857606C>T | CA421811985 | DARS2 | c.*1418C>T (n.*1418C>T) c.1776C>T (p.Leu592=) c.*1529C>T (n.*1529C>T) c.*983C>T (n.*983C>T) c.*2305C>T (n.*2305C>T) c.1686C>T (p.Leu562=) c.1356C>T (p.Leu452=) c.*842C>T (n.*842C>T) c.1839C>T (p.Leu613=) n.661C>T | |
| 1 | g.173857607A= | CA1207913218 | DARS2 | c.*1419A= (n.*1419A=) c.1777A= (p.Met593=) c.*1530A= (n.*1530A=) c.*984A= (n.*984A=) c.*2306A= (n.*2306A=) c.1687A= (p.Met563=) c.1357A= (p.Met453=) c.*843A= (n.*843A=) c.1840A= (p.Met614=) n.662A= | |
| 1 | g.173857607A>C | CA343767736 | DARS2 | c.*1419A>C (n.*1419A>C) c.1777A>C (p.Met593Leu) c.*1530A>C (n.*1530A>C) c.*984A>C (n.*984A>C) c.*2306A>C (n.*2306A>C) c.1687A>C (p.Met563Leu) c.1357A>C (p.Met453Leu) c.*843A>C (n.*843A>C) c.1840A>C (p.Met614Leu) n.662A>C | gnomAD v4 |
| 1 | g.173857607A>G | CA343767735 | DARS2 | c.*1419A>G (n.*1419A>G) c.1777A>G (p.Met593Val) c.*1530A>G (n.*1530A>G) c.*984A>G (n.*984A>G) c.*2306A>G (n.*2306A>G) c.1687A>G (p.Met563Val) c.1357A>G (p.Met453Val) c.*843A>G (n.*843A>G) c.1840A>G (p.Met614Val) n.662A>G | dbSNP |
| 1 | g.173857607A>T | CA343767734 | DARS2 | c.*1419A>T (n.*1419A>T) c.1777A>T (p.Met593Leu) c.*1530A>T (n.*1530A>T) c.*984A>T (n.*984A>T) c.*2306A>T (n.*2306A>T) c.1687A>T (p.Met563Leu) c.1357A>T (p.Met453Leu) c.*843A>T (n.*843A>T) c.1840A>T (p.Met614Leu) n.662A>T | |
| 1 | g.173857608del | CA421811987 | DARS2 | c.*1420del (n.*1420del) c.1778del (p.Met593ArgfsTer13) c.*1531del (n.*1531del) c.*985del (n.*985del) c.*2307del (n.*2307del) c.1688del (p.Met563ArgfsTer13) c.1358del (p.Met453ArgfsTer13) c.*844del (n.*844del) c.1841del (p.Met614ArgfsTer13) n.663del | |
| 1 | g.173857608T>A | CA343767737 | DARS2 | c.*1420T>A (n.*1420T>A) c.1778T>A (p.Met593Lys) c.*1531T>A (n.*1531T>A) c.*985T>A (n.*985T>A) c.*2307T>A (n.*2307T>A) c.1688T>A (p.Met563Lys) c.1358T>A (p.Met453Lys) c.*844T>A (n.*844T>A) c.1841T>A (p.Met614Lys) n.663T>A | |
| 1 | g.173857608T>C | CA343767738 | DARS2 | c.*1420T>C (n.*1420T>C) c.1778T>C (p.Met593Thr) c.*1531T>C (n.*1531T>C) c.*985T>C (n.*985T>C) c.*2307T>C (n.*2307T>C) c.1688T>C (p.Met563Thr) c.1358T>C (p.Met453Thr) c.*844T>C (n.*844T>C) c.1841T>C (p.Met614Thr) n.663T>C | gnomAD v4 |
| 1 | g.173857608T>G | CA343767739 | DARS2 | c.*1420T>G (n.*1420T>G) c.1778T>G (p.Met593Arg) c.*1531T>G (n.*1531T>G) c.*985T>G (n.*985T>G) c.*2307T>G (n.*2307T>G) c.1688T>G (p.Met563Arg) c.1358T>G (p.Met453Arg) c.*844T>G (n.*844T>G) c.1841T>G (p.Met614Arg) n.663T>G | |
| 1 | g.173857609G>A | CA343767740 | DARS2 | c.*1421G>A (n.*1421G>A) c.1779G>A (p.Met593Ile) c.*1532G>A (n.*1532G>A) c.*986G>A (n.*986G>A) c.*2308G>A (n.*2308G>A) c.1689G>A (p.Met563Ile) c.1359G>A (p.Met453Ile) c.*845G>A (n.*845G>A) c.1842G>A (p.Met614Ile) n.664G>A | |
| 1 | g.173857609G>C | CA343767741 | DARS2 | c.*1421G>C (n.*1421G>C) c.1779G>C (p.Met593Ile) c.*1532G>C (n.*1532G>C) c.*986G>C (n.*986G>C) c.*2308G>C (n.*2308G>C) c.1689G>C (p.Met563Ile) c.1359G>C (p.Met453Ile) c.*845G>C (n.*845G>C) c.1842G>C (p.Met614Ile) n.664G>C | |
| 1 | g.173857609G>T | CA343767742 | DARS2 | c.*1421G>T (n.*1421G>T) c.1779G>T (p.Met593Ile) c.*1532G>T (n.*1532G>T) c.*986G>T (n.*986G>T) c.*2308G>T (n.*2308G>T) c.1689G>T (p.Met563Ile) c.1359G>T (p.Met453Ile) c.*845G>T (n.*845G>T) c.1842G>T (p.Met614Ile) n.664G>T | |
| 1 | g.173857610A>C | CA343767745 | DARS2 | c.*1422A>C (n.*1422A>C) c.1780A>C (p.Ser594Arg) c.*1533A>C (n.*1533A>C) c.*987A>C (n.*987A>C) c.*2309A>C (n.*2309A>C) c.1690A>C (p.Ser564Arg) c.1360A>C (p.Ser454Arg) c.*846A>C (n.*846A>C) c.1843A>C (p.Ser615Arg) n.665A>C | |
| 1 | g.173857610A>G | CA343767743 | DARS2 | c.*1422A>G (n.*1422A>G) c.1780A>G (p.Ser594Gly) c.*1533A>G (n.*1533A>G) c.*987A>G (n.*987A>G) c.*2309A>G (n.*2309A>G) c.1690A>G (p.Ser564Gly) c.1360A>G (p.Ser454Gly) c.*846A>G (n.*846A>G) c.1843A>G (p.Ser615Gly) n.665A>G | |
| 1 | g.173857610A>T | CA343767744 | DARS2 | c.*1422A>T (n.*1422A>T) c.1780A>T (p.Ser594Cys) c.*1533A>T (n.*1533A>T) c.*987A>T (n.*987A>T) c.*2309A>T (n.*2309A>T) c.1690A>T (p.Ser564Cys) c.1360A>T (p.Ser454Cys) c.*846A>T (n.*846A>T) c.1843A>T (p.Ser615Cys) n.665A>T | |
| 1 | g.173857611G>A | CA1250535 | DARS2 | c.*1423G>A (n.*1423G>A) c.1781G>A (p.Ser594Asn) c.*1534G>A (n.*1534G>A) c.*988G>A (n.*988G>A) c.*2310G>A (n.*2310G>A) c.1691G>A (p.Ser564Asn) c.1361G>A (p.Ser454Asn) c.*847G>A (n.*847G>A) c.1844G>A (p.Ser615Asn) n.666G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |