WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.33736196_33741393del | CA1139666016 | ASXL3 | c.1085+1781_3042+950del c.1082+1781_3039+950del c.*206+1781_*2163+950del c.*741+1781_*2698+950del c.1294+1781_3251+950del c.914+1781_2871+950del c.962+1781_2919+950del c.1058+1781_3015+950del c.1004+1781_2961+950del c.965+1781_2922+950del | ClinVar |
| 18 | g.33736199_33741395del | CA915951347 | ASXL3 | c.1085+1784_3042+952del c.1082+1784_3039+952del c.*206+1784_*2163+952del c.*741+1784_*2698+952del c.1294+1784_3251+952del c.914+1784_2871+952del c.962+1784_2919+952del c.1058+1784_3015+952del c.1004+1784_2961+952del c.965+1784_2922+952del | |
| 18 | g.33739266C>A | CA402176634 | ASXL3 | c.1865C>A (p.Ala622Asp) c.1862C>A (p.Ala621Asp) c.*986C>A (n.*986C>A) c.*1521C>A (n.*1521C>A) c.2074C>A (n.2074C>A) c.1694C>A (p.Ala565Asp) c.1742C>A (p.Ala581Asp) c.1838C>A (p.Ala613Asp) c.1784C>A (p.Ala595Asp) c.1745C>A (p.Ala582Asp) | gnomAD v4 |
| 18 | g.33739266C= | CA2294855892 | ASXL3 | c.1865C= (p.Ala622=) c.1862C= (p.Ala621=) c.*986C= (n.*986C=) c.*1521C= (n.*1521C=) c.2074C= (n.2074C=) c.1694C= (p.Ala565=) c.1742C= (p.Ala581=) c.1838C= (p.Ala613=) c.1784C= (p.Ala595=) c.1745C= (p.Ala582=) | |
| 18 | g.33739266C>G | CA402176636 | ASXL3 | c.1865C>G (p.Ala622Gly) c.1862C>G (p.Ala621Gly) c.*986C>G (n.*986C>G) c.*1521C>G (n.*1521C>G) c.2074C>G (n.2074C>G) c.1694C>G (p.Ala565Gly) c.1742C>G (p.Ala581Gly) c.1838C>G (p.Ala613Gly) c.1784C>G (p.Ala595Gly) c.1745C>G (p.Ala582Gly) | |
| 18 | g.33739266C>T | CA8933823 | ASXL3 | c.1865C>T (p.Ala622Val) c.1862C>T (p.Ala621Val) c.*986C>T (n.*986C>T) c.*1521C>T (n.*1521C>T) c.2074C>T (n.2074C>T) c.1694C>T (p.Ala565Val) c.1742C>T (p.Ala581Val) c.1838C>T (p.Ala613Val) c.1784C>T (p.Ala595Val) c.1745C>T (p.Ala582Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33739267C>A | CA503768863 | ASXL3 | c.1866C>A (p.Ala622=) c.1863C>A (p.Ala621=) c.*987C>A (n.*987C>A) c.*1522C>A (n.*1522C>A) c.2075C>A (n.2075C>A) c.1695C>A (p.Ala565=) c.1743C>A (p.Ala581=) c.1839C>A (p.Ala613=) c.1785C>A (p.Ala595=) c.1746C>A (p.Ala582=) | |
| 18 | g.33739267C>G | CA503768864 | ASXL3 | c.1866C>G (p.Ala622=) c.1863C>G (p.Ala621=) c.*987C>G (n.*987C>G) c.*1522C>G (n.*1522C>G) c.2075C>G (n.2075C>G) c.1695C>G (p.Ala565=) c.1743C>G (p.Ala581=) c.1839C>G (p.Ala613=) c.1785C>G (p.Ala595=) c.1746C>G (p.Ala582=) | |
| 18 | g.33739267C>T | CA503768865 | ASXL3 | c.1866C>T (p.Ala622=) c.1863C>T (p.Ala621=) c.*987C>T (n.*987C>T) c.*1522C>T (n.*1522C>T) c.2075C>T (n.2075C>T) c.1695C>T (p.Ala565=) c.1743C>T (p.Ala581=) c.1839C>T (p.Ala613=) c.1785C>T (p.Ala595=) c.1746C>T (p.Ala582=) | |
| 18 | g.33739268T>A | CA402176640 | ASXL3 | c.1867T>A (p.Cys623Ser) c.1864T>A (p.Cys622Ser) c.*988T>A (n.*988T>A) c.*1523T>A (n.*1523T>A) c.2076T>A (n.2076T>A) c.1696T>A (p.Cys566Ser) c.1744T>A (p.Cys582Ser) c.1840T>A (p.Cys614Ser) c.1786T>A (p.Cys596Ser) c.1747T>A (p.Cys583Ser) | |
| 18 | g.33739268T>C | CA402176641 | ASXL3 | c.1867T>C (p.Cys623Arg) c.1864T>C (p.Cys622Arg) c.*988T>C (n.*988T>C) c.*1523T>C (n.*1523T>C) c.2076T>C (n.2076T>C) c.1696T>C (p.Cys566Arg) c.1744T>C (p.Cys582Arg) c.1840T>C (p.Cys614Arg) c.1786T>C (p.Cys596Arg) c.1747T>C (p.Cys583Arg) | |
| 18 | g.33739268T>G | CA402176642 | ASXL3 | c.1867T>G (p.Cys623Gly) c.1864T>G (p.Cys622Gly) c.*988T>G (n.*988T>G) c.*1523T>G (n.*1523T>G) c.2076T>G (n.2076T>G) c.1696T>G (p.Cys566Gly) c.1744T>G (p.Cys582Gly) c.1840T>G (p.Cys614Gly) c.1786T>G (p.Cys596Gly) c.1747T>G (p.Cys583Gly) | |
| 18 | g.33739268dup | CA2573054653 | ASXL3 | c.1867dup (p.Cys623LeufsTer25) c.1864dup (p.Cys622LeufsTer25) c.*988dup (n.*988dup) c.*1523dup (n.*1523dup) c.2076dup (n.2076dup) c.1696dup (p.Cys566LeufsTer25) c.1744dup (p.Cys582LeufsTer25) c.1840dup (p.Cys614LeufsTer25) c.1786dup (p.Cys596LeufsTer25) c.1747dup (p.Cys583LeufsTer25) | ClinVar dbSNP |
| 18 | g.33739269G>A | CA402176648 | ASXL3 | c.1868G>A (p.Cys623Tyr) c.1865G>A (p.Cys622Tyr) c.*989G>A (n.*989G>A) c.*1524G>A (n.*1524G>A) c.2077G>A (n.2077G>A) c.1697G>A (p.Cys566Tyr) c.1745G>A (p.Cys582Tyr) c.1841G>A (p.Cys614Tyr) c.1787G>A (p.Cys596Tyr) c.1748G>A (p.Cys583Tyr) | gnomAD v4 COSMIC COSMIC |
| 18 | g.33739269G>C | CA402176643 | ASXL3 | c.1868G>C (p.Cys623Ser) c.1865G>C (p.Cys622Ser) c.*989G>C (n.*989G>C) c.*1524G>C (n.*1524G>C) c.2077G>C (n.2077G>C) c.1697G>C (p.Cys566Ser) c.1745G>C (p.Cys582Ser) c.1841G>C (p.Cys614Ser) c.1787G>C (p.Cys596Ser) c.1748G>C (p.Cys583Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.33739269G= | CA2294855893 | ASXL3 | c.1868G= (p.Cys623=) c.1865G= (p.Cys622=) c.*989G= (n.*989G=) c.*1524G= (n.*1524G=) c.2077G= (n.2077G=) c.1697G= (p.Cys566=) c.1745G= (p.Cys582=) c.1841G= (p.Cys614=) c.1787G= (p.Cys596=) c.1748G= (p.Cys583=) | |
| 18 | g.33739269G>T | CA402176645 | ASXL3 | c.1868G>T (p.Cys623Phe) c.1865G>T (p.Cys622Phe) c.*989G>T (n.*989G>T) c.*1524G>T (n.*1524G>T) c.2077G>T (n.2077G>T) c.1697G>T (p.Cys566Phe) c.1745G>T (p.Cys582Phe) c.1841G>T (p.Cys614Phe) c.1787G>T (p.Cys596Phe) c.1748G>T (p.Cys583Phe) | |
| 18 | g.33739270T>A | CA402176649 | ASXL3 | c.1869T>A (p.Cys623Ter) c.1866T>A (p.Cys622Ter) c.*990T>A (n.*990T>A) c.*1525T>A (n.*1525T>A) c.2078T>A (n.2078T>A) c.1698T>A (p.Cys566Ter) c.1746T>A (p.Cys582Ter) c.1842T>A (p.Cys614Ter) c.1788T>A (p.Cys596Ter) c.1749T>A (p.Cys583Ter) | |
| 18 | g.33739270T>C | CA503768871 | ASXL3 | c.1869T>C (p.Cys623=) c.1866T>C (p.Cys622=) c.*990T>C (n.*990T>C) c.*1525T>C (n.*1525T>C) c.2078T>C (n.2078T>C) c.1698T>C (p.Cys566=) c.1746T>C (p.Cys582=) c.1842T>C (p.Cys614=) c.1788T>C (p.Cys596=) c.1749T>C (p.Cys583=) | |
| 18 | g.33739270T>G | CA402176650 | ASXL3 | c.1869T>G (p.Cys623Trp) c.1866T>G (p.Cys622Trp) c.*990T>G (n.*990T>G) c.*1525T>G (n.*1525T>G) c.2078T>G (n.2078T>G) c.1698T>G (p.Cys566Trp) c.1746T>G (p.Cys582Trp) c.1842T>G (p.Cys614Trp) c.1788T>G (p.Cys596Trp) c.1749T>G (p.Cys583Trp) | |
| 18 | g.33739271A= | CA2294855894 | ASXL3 | c.1870A= (p.Thr624=) c.1867A= (p.Thr623=) c.*991A= (n.*991A=) c.*1526A= (n.*1526A=) c.2079A= (n.2079A=) c.1699A= (p.Thr567=) c.1747A= (p.Thr583=) c.1843A= (p.Thr615=) c.1789A= (p.Thr597=) c.1750A= (p.Thr584=) | |
| 18 | g.33739271A>C | CA402176652 | ASXL3 | c.1870A>C (p.Thr624Pro) c.1867A>C (p.Thr623Pro) c.*991A>C (n.*991A>C) c.*1526A>C (n.*1526A>C) c.2079A>C (n.2079A>C) c.1699A>C (p.Thr567Pro) c.1747A>C (p.Thr583Pro) c.1843A>C (p.Thr615Pro) c.1789A>C (p.Thr597Pro) c.1750A>C (p.Thr584Pro) | dbSNP |
| 18 | g.33739271A>G | CA402176655 | ASXL3 | c.1870A>G (p.Thr624Ala) c.1867A>G (p.Thr623Ala) c.*991A>G (n.*991A>G) c.*1526A>G (n.*1526A>G) c.2079A>G (n.2079A>G) c.1699A>G (p.Thr567Ala) c.1747A>G (p.Thr583Ala) c.1843A>G (p.Thr615Ala) c.1789A>G (p.Thr597Ala) c.1750A>G (p.Thr584Ala) | gnomAD v4 |
| 18 | g.33739271A>T | CA402176657 | ASXL3 | c.1870A>T (p.Thr624Ser) c.1867A>T (p.Thr623Ser) c.*991A>T (n.*991A>T) c.*1526A>T (n.*1526A>T) c.2079A>T (n.2079A>T) c.1699A>T (p.Thr567Ser) c.1747A>T (p.Thr583Ser) c.1843A>T (p.Thr615Ser) c.1789A>T (p.Thr597Ser) c.1750A>T (p.Thr584Ser) | dbSNP gnomAD v4 |
| 18 | g.33739272C>A | CA402176665 | ASXL3 | c.1871C>A (p.Thr624Asn) c.1868C>A (p.Thr623Asn) c.*992C>A (n.*992C>A) c.*1527C>A (n.*1527C>A) c.2080C>A (n.2080C>A) c.1700C>A (p.Thr567Asn) c.1748C>A (p.Thr583Asn) c.1844C>A (p.Thr615Asn) c.1790C>A (p.Thr597Asn) c.1751C>A (p.Thr584Asn) | |
| 18 | g.33739272C= | CA2294855895 | ASXL3 | c.1871C= (p.Thr624=) c.1868C= (p.Thr623=) c.*992C= (n.*992C=) c.*1527C= (n.*1527C=) c.2080C= (n.2080C=) c.1700C= (p.Thr567=) c.1748C= (p.Thr583=) c.1844C= (p.Thr615=) c.1790C= (p.Thr597=) c.1751C= (p.Thr584=) | |
| 18 | g.33739272C>G | CA8933824 | ASXL3 | c.1871C>G (p.Thr624Ser) c.1868C>G (p.Thr623Ser) c.*992C>G (n.*992C>G) c.*1527C>G (n.*1527C>G) c.2080C>G (n.2080C>G) c.1700C>G (p.Thr567Ser) c.1748C>G (p.Thr583Ser) c.1844C>G (p.Thr615Ser) c.1790C>G (p.Thr597Ser) c.1751C>G (p.Thr584Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33739272C>T | CA297787057 | ASXL3 | c.1871C>T (p.Thr624Ile) c.1868C>T (p.Thr623Ile) c.*992C>T (n.*992C>T) c.*1527C>T (n.*1527C>T) c.2080C>T (n.2080C>T) c.1700C>T (p.Thr567Ile) c.1748C>T (p.Thr583Ile) c.1844C>T (p.Thr615Ile) c.1790C>T (p.Thr597Ile) c.1751C>T (p.Thr584Ile) | dbSNP gnomAD v4 |
| 18 | g.33739273C>A | CA503768873 | ASXL3 | c.1872C>A (p.Thr624=) c.1869C>A (p.Thr623=) c.*993C>A (n.*993C>A) c.*1528C>A (n.*1528C>A) c.2081C>A (n.2081C>A) c.1701C>A (p.Thr567=) c.1749C>A (p.Thr583=) c.1845C>A (p.Thr615=) c.1791C>A (p.Thr597=) c.1752C>A (p.Thr584=) | |
| 18 | g.33739273C>G | CA503768874 | ASXL3 | c.1872C>G (p.Thr624=) c.1869C>G (p.Thr623=) c.*993C>G (n.*993C>G) c.*1528C>G (n.*1528C>G) c.2081C>G (n.2081C>G) c.1701C>G (p.Thr567=) c.1749C>G (p.Thr583=) c.1845C>G (p.Thr615=) c.1791C>G (p.Thr597=) c.1752C>G (p.Thr584=) | |
| 18 | g.33739273C>T | CA503768875 | ASXL3 | c.1872C>T (p.Thr624=) c.1869C>T (p.Thr623=) c.*993C>T (n.*993C>T) c.*1528C>T (n.*1528C>T) c.2081C>T (n.2081C>T) c.1701C>T (p.Thr567=) c.1749C>T (p.Thr583=) c.1845C>T (p.Thr615=) c.1791C>T (p.Thr597=) c.1752C>T (p.Thr584=) | |
| 18 | g.33739274A= | CA2294855896 | ASXL3 | c.1873A= (p.Ser625=) c.1870A= (p.Ser624=) c.*994A= (n.*994A=) c.*1529A= (n.*1529A=) c.2082A= (n.2082A=) c.1702A= (p.Ser568=) c.1750A= (p.Ser584=) c.1846A= (p.Ser616=) c.1792A= (p.Ser598=) c.1753A= (p.Ser585=) | |
| 18 | g.33739274A>C | CA402176667 | ASXL3 | c.1873A>C (p.Ser625Arg) c.1870A>C (p.Ser624Arg) c.*994A>C (n.*994A>C) c.*1529A>C (n.*1529A>C) c.2082A>C (n.2082A>C) c.1702A>C (p.Ser568Arg) c.1750A>C (p.Ser584Arg) c.1846A>C (p.Ser616Arg) c.1792A>C (p.Ser598Arg) c.1753A>C (p.Ser585Arg) | |
| 18 | g.33739274A>G | CA402176668 | ASXL3 | c.1873A>G (p.Ser625Gly) c.1870A>G (p.Ser624Gly) c.*994A>G (n.*994A>G) c.*1529A>G (n.*1529A>G) c.2082A>G (n.2082A>G) c.1702A>G (p.Ser568Gly) c.1750A>G (p.Ser584Gly) c.1846A>G (p.Ser616Gly) c.1792A>G (p.Ser598Gly) c.1753A>G (p.Ser585Gly) | dbSNP gnomAD v4 |
| 18 | g.33739274A>T | CA402176670 | ASXL3 | c.1873A>T (p.Ser625Cys) c.1870A>T (p.Ser624Cys) c.*994A>T (n.*994A>T) c.*1529A>T (n.*1529A>T) c.2082A>T (n.2082A>T) c.1702A>T (p.Ser568Cys) c.1750A>T (p.Ser584Cys) c.1846A>T (p.Ser616Cys) c.1792A>T (p.Ser598Cys) c.1753A>T (p.Ser585Cys) | |
| 18 | g.33739275G>A | CA402176671 | ASXL3 | c.1874G>A (p.Ser625Asn) c.1871G>A (p.Ser624Asn) c.*995G>A (n.*995G>A) c.*1530G>A (n.*1530G>A) c.2083G>A (n.2083G>A) c.1703G>A (p.Ser568Asn) c.1751G>A (p.Ser584Asn) c.1847G>A (p.Ser616Asn) c.1793G>A (p.Ser598Asn) c.1754G>A (p.Ser585Asn) | dbSNP gnomAD v2 |
| 18 | g.33739275G>C | CA402176674 | ASXL3 | c.1874G>C (p.Ser625Thr) c.1871G>C (p.Ser624Thr) c.*995G>C (n.*995G>C) c.*1530G>C (n.*1530G>C) c.2083G>C (n.2083G>C) c.1703G>C (p.Ser568Thr) c.1751G>C (p.Ser584Thr) c.1847G>C (p.Ser616Thr) c.1793G>C (p.Ser598Thr) c.1754G>C (p.Ser585Thr) | |
| 18 | g.33739275G= | CA2294855897 | ASXL3 | c.1874G= (p.Ser625=) c.1871G= (p.Ser624=) c.*995G= (n.*995G=) c.*1530G= (n.*1530G=) c.2083G= (n.2083G=) c.1703G= (p.Ser568=) c.1751G= (p.Ser584=) c.1847G= (p.Ser616=) c.1793G= (p.Ser598=) c.1754G= (p.Ser585=) | |
| 18 | g.33739275G>T | CA402176675 | ASXL3 | c.1874G>T (p.Ser625Ile) c.1871G>T (p.Ser624Ile) c.*995G>T (n.*995G>T) c.*1530G>T (n.*1530G>T) c.2083G>T (n.2083G>T) c.1703G>T (p.Ser568Ile) c.1751G>T (p.Ser584Ile) c.1847G>T (p.Ser616Ile) c.1793G>T (p.Ser598Ile) c.1754G>T (p.Ser585Ile) | |
| 18 | g.33739276C>A | CA8933825 | ASXL3 | c.1875C>A (p.Ser625Arg) c.1872C>A (p.Ser624Arg) c.*996C>A (n.*996C>A) c.*1531C>A (n.*1531C>A) c.2084C>A (n.2084C>A) c.1704C>A (p.Ser568Arg) c.1752C>A (p.Ser584Arg) c.1848C>A (p.Ser616Arg) c.1794C>A (p.Ser598Arg) c.1755C>A (p.Ser585Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 18 | g.33739276C= | CA2294855898 | ASXL3 | c.1875C= (p.Ser625=) c.1872C= (p.Ser624=) c.*996C= (n.*996C=) c.*1531C= (n.*1531C=) c.2084C= (n.2084C=) c.1704C= (p.Ser568=) c.1752C= (p.Ser584=) c.1848C= (p.Ser616=) c.1794C= (p.Ser598=) c.1755C= (p.Ser585=) | |
| 18 | g.33739276C>G | CA402176678 | ASXL3 | c.1875C>G (p.Ser625Arg) c.1872C>G (p.Ser624Arg) c.*996C>G (n.*996C>G) c.*1531C>G (n.*1531C>G) c.2084C>G (n.2084C>G) c.1704C>G (p.Ser568Arg) c.1752C>G (p.Ser584Arg) c.1848C>G (p.Ser616Arg) c.1794C>G (p.Ser598Arg) c.1755C>G (p.Ser585Arg) | |
| 18 | g.33739276C>T | CA503768878 | ASXL3 | c.1875C>T (p.Ser625=) c.1872C>T (p.Ser624=) c.*996C>T (n.*996C>T) c.*1531C>T (n.*1531C>T) c.2084C>T (n.2084C>T) c.1704C>T (p.Ser568=) c.1752C>T (p.Ser584=) c.1848C>T (p.Ser616=) c.1794C>T (p.Ser598=) c.1755C>T (p.Ser585=) | |
| 18 | g.33739277C>A | CA402176679 | ASXL3 | c.1876C>A (p.Leu626Met) c.1873C>A (p.Leu625Met) c.*997C>A (n.*997C>A) c.*1532C>A (n.*1532C>A) c.2085C>A (n.2085C>A) c.1705C>A (p.Leu569Met) c.1753C>A (p.Leu585Met) c.1849C>A (p.Leu617Met) c.1795C>A (p.Leu599Met) c.1756C>A (p.Leu586Met) | |
| 18 | g.33739277C= | CA2294855899 | ASXL3 | c.1876C= (p.Leu626=) c.1873C= (p.Leu625=) c.*997C= (n.*997C=) c.*1532C= (n.*1532C=) c.2085C= (n.2085C=) c.1705C= (p.Leu569=) c.1753C= (p.Leu585=) c.1849C= (p.Leu617=) c.1795C= (p.Leu599=) c.1756C= (p.Leu586=) | |
| 18 | g.33739277C>G | CA402176680 | ASXL3 | c.1876C>G (p.Leu626Val) c.1873C>G (p.Leu625Val) c.*997C>G (n.*997C>G) c.*1532C>G (n.*1532C>G) c.2085C>G (n.2085C>G) c.1705C>G (p.Leu569Val) c.1753C>G (p.Leu585Val) c.1849C>G (p.Leu617Val) c.1795C>G (p.Leu599Val) c.1756C>G (p.Leu586Val) | |
| 18 | g.33739277C>T | CA503768882 | ASXL3 | c.1876C>T (p.Leu626=) c.1873C>T (p.Leu625=) c.*997C>T (n.*997C>T) c.*1532C>T (n.*1532C>T) c.2085C>T (n.2085C>T) c.1705C>T (p.Leu569=) c.1753C>T (p.Leu585=) c.1849C>T (p.Leu617=) c.1795C>T (p.Leu599=) c.1756C>T (p.Leu586=) | dbSNP gnomAD v2 COSMIC COSMIC |
| 18 | g.33739278T>A | CA402176681 | ASXL3 | c.1877T>A (p.Leu626Gln) c.1874T>A (p.Leu625Gln) c.*998T>A (n.*998T>A) c.*1533T>A (n.*1533T>A) c.2086T>A (n.2086T>A) c.1706T>A (p.Leu569Gln) c.1754T>A (p.Leu585Gln) c.1850T>A (p.Leu617Gln) c.1796T>A (p.Leu599Gln) c.1757T>A (p.Leu586Gln) | |
| 18 | g.33739278T>C | CA402176682 | ASXL3 | c.1877T>C (p.Leu626Pro) c.1874T>C (p.Leu625Pro) c.*998T>C (n.*998T>C) c.*1533T>C (n.*1533T>C) c.2086T>C (n.2086T>C) c.1706T>C (p.Leu569Pro) c.1754T>C (p.Leu585Pro) c.1850T>C (p.Leu617Pro) c.1796T>C (p.Leu599Pro) c.1757T>C (p.Leu586Pro) | |
| 18 | g.33739278T>G | CA402176683 | ASXL3 | c.1877T>G (p.Leu626Arg) c.1874T>G (p.Leu625Arg) c.*998T>G (n.*998T>G) c.*1533T>G (n.*1533T>G) c.2086T>G (n.2086T>G) c.1706T>G (p.Leu569Arg) c.1754T>G (p.Leu585Arg) c.1850T>G (p.Leu617Arg) c.1796T>G (p.Leu599Arg) c.1757T>G (p.Leu586Arg) |