Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.746236T>A | CA397506329 | GEMIN4 | c.1807A>T (p.Met603Leu) c.1774A>T (p.Met592Leu) c.1819A>T (p.Met607Leu) | |
17 | g.746236T>C | CA8262542 | GEMIN4 | c.1807A>G (p.Met603Val) c.1774A>G (p.Met592Val) c.1819A>G (p.Met607Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746236T>G | CA397506330 | GEMIN4 | c.1807A>C (p.Met603Leu) c.1774A>C (p.Met592Leu) c.1819A>C (p.Met607Leu) | dbSNP gnomAD v4 |
17 | g.746236T= | CA2242474618 | GEMIN4 | c.1807A= (p.Met603=) c.1774A= (p.Met592=) c.1819A= (p.Met607=) | |
17 | g.746237G>A | CA497384095 | GEMIN4 | c.1806C>T (p.Phe602=) c.1773C>T (p.Phe591=) c.1818C>T (p.Phe606=) | |
17 | g.746237G>C | CA397506331 | GEMIN4 | c.1806C>G (p.Phe602Leu) c.1773C>G (p.Phe591Leu) c.1818C>G (p.Phe606Leu) | gnomAD v4 |
17 | g.746237G= | CA2242474619 | GEMIN4 | c.1806C= (p.Phe602=) c.1773C= (p.Phe591=) c.1818C= (p.Phe606=) | |
17 | g.746237G>T | CA397506332 | GEMIN4 | c.1806C>A (p.Phe602Leu) c.1773C>A (p.Phe591Leu) c.1818C>A (p.Phe606Leu) | dbSNP |
17 | g.746238A>C | CA397506333 | GEMIN4 | c.1805T>G (p.Phe602Cys) c.1772T>G (p.Phe591Cys) c.1817T>G (p.Phe606Cys) | |
17 | g.746238A>G | CA397506334 | GEMIN4 | c.1805T>C (p.Phe602Ser) c.1772T>C (p.Phe591Ser) c.1817T>C (p.Phe606Ser) | |
17 | g.746238A>T | CA397506335 | GEMIN4 | c.1805T>A (p.Phe602Tyr) c.1772T>A (p.Phe591Tyr) c.1817T>A (p.Phe606Tyr) | |
17 | g.746239A= | CA2242474620 | GEMIN4 | c.1804T= (p.Phe602=) c.1771T= (p.Phe591=) c.1816T= (p.Phe606=) | |
17 | g.746239A>C | CA397506336 | GEMIN4 | c.1804T>G (p.Phe602Val) c.1771T>G (p.Phe591Val) c.1816T>G (p.Phe606Val) | |
17 | g.746239A>G | CA8262543 | GEMIN4 | c.1804T>C (p.Phe602Leu) c.1771T>C (p.Phe591Leu) c.1816T>C (p.Phe606Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746239A>T | CA397506337 | GEMIN4 | c.1804T>A (p.Phe602Ile) c.1771T>A (p.Phe591Ile) c.1816T>A (p.Phe606Ile) | |
17 | g.746240A>C | CA497384098 | GEMIN4 | c.1803T>G (p.Thr601=) c.1770T>G (p.Thr590=) c.1815T>G (p.Thr605=) | |
17 | g.746240A>G | CA497384102 | GEMIN4 | c.1803T>C (p.Thr601=) c.1770T>C (p.Thr590=) c.1815T>C (p.Thr605=) | |
17 | g.746240A>T | CA497384101 | GEMIN4 | c.1803T>A (p.Thr601=) c.1770T>A (p.Thr590=) c.1815T>A (p.Thr605=) | |
17 | g.746241G>A | CA397506339 | GEMIN4 | c.1802C>T (p.Thr601Ile) c.1769C>T (p.Thr590Ile) c.1814C>T (p.Thr605Ile) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.746241G>C | CA286713682 | GEMIN4 | c.1802C>G (p.Thr601Ser) c.1769C>G (p.Thr590Ser) c.1814C>G (p.Thr605Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746241G= | CA2242474621 | GEMIN4 | c.1802C= (p.Thr601=) c.1769C= (p.Thr590=) c.1814C= (p.Thr605=) | |
17 | g.746241G>T | CA397506338 | GEMIN4 | c.1802C>A (p.Thr601Asn) c.1769C>A (p.Thr590Asn) c.1814C>A (p.Thr605Asn) | |
17 | g.746242T>A | CA397506341 | GEMIN4 | c.1801A>T (p.Thr601Ser) c.1768A>T (p.Thr590Ser) c.1813A>T (p.Thr605Ser) | |
17 | g.746242T>C | CA397506340 | GEMIN4 | c.1801A>G (p.Thr601Ala) c.1768A>G (p.Thr590Ala) c.1813A>G (p.Thr605Ala) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746242T>G | CA397506342 | GEMIN4 | c.1801A>C (p.Thr601Pro) c.1768A>C (p.Thr590Pro) c.1813A>C (p.Thr605Pro) | |
17 | g.746242T= | CA2242474622 | GEMIN4 | c.1801A= (p.Thr601=) c.1768A= (p.Thr590=) c.1813A= (p.Thr605=) | |
17 | g.746243G>A | CA497384109 | GEMIN4 | c.1800C>T (p.Ala600=) c.1767C>T (p.Ala589=) c.1812C>T (p.Ala604=) | |
17 | g.746243G>C | CA497384111 | GEMIN4 | c.1800C>G (p.Ala600=) c.1767C>G (p.Ala589=) c.1812C>G (p.Ala604=) | |
17 | g.746243G>T | CA497384112 | GEMIN4 | c.1800C>A (p.Ala600=) c.1767C>A (p.Ala589=) c.1812C>A (p.Ala604=) | |
17 | g.746244G>A | CA8262544 | GEMIN4 | c.1799C>T (p.Ala600Val) c.1766C>T (p.Ala589Val) c.1811C>T (p.Ala604Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746244G>C | CA397506344 | GEMIN4 | c.1799C>G (p.Ala600Gly) c.1766C>G (p.Ala589Gly) c.1811C>G (p.Ala604Gly) | |
17 | g.746244G= | CA2242474623 | GEMIN4 | c.1799C= (p.Ala600=) c.1766C= (p.Ala589=) c.1811C= (p.Ala604=) | |
17 | g.746244G>T | CA397506343 | GEMIN4 | c.1799C>A (p.Ala600Asp) c.1766C>A (p.Ala589Asp) c.1811C>A (p.Ala604Asp) | |
17 | g.746245C>A | CA8262545 | GEMIN4 | c.1798G>T (p.Ala600Ser) c.1765G>T (p.Ala589Ser) c.1810G>T (p.Ala604Ser) | dbSNP ExAC gnomAD v2 |
17 | g.746245C= | CA2242474624 | GEMIN4 | c.1798G= (p.Ala600=) c.1765G= (p.Ala589=) c.1810G= (p.Ala604=) | |
17 | g.746245C>G | CA8262546 | GEMIN4 | c.1798G>C (p.Ala600Pro) c.1765G>C (p.Ala589Pro) c.1810G>C (p.Ala604Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746245C>T | CA397506345 | GEMIN4 | c.1798G>A (p.Ala600Thr) c.1765G>A (p.Ala589Thr) c.1810G>A (p.Ala604Thr) | |
17 | g.746246A>C | CA497384117 | GEMIN4 | c.1797T>G (p.Ser599=) c.1764T>G (p.Ser588=) c.1809T>G (p.Ser603=) | |
17 | g.746246A>G | CA497384118 | GEMIN4 | c.1797T>C (p.Ser599=) c.1764T>C (p.Ser588=) c.1809T>C (p.Ser603=) | |
17 | g.746246A>T | CA497384119 | GEMIN4 | c.1797T>A (p.Ser599=) c.1764T>A (p.Ser588=) c.1809T>A (p.Ser603=) | |
17 | g.746247G>A | CA397506346 | GEMIN4 | c.1796C>T (p.Ser599Phe) c.1763C>T (p.Ser588Phe) c.1808C>T (p.Ser603Phe) | |
17 | g.746247G>C | CA397506347 | GEMIN4 | c.1796C>G (p.Ser599Cys) c.1763C>G (p.Ser588Cys) c.1808C>G (p.Ser603Cys) | gnomAD v4 COSMIC COSMIC |
17 | g.746247G>T | CA397506348 | GEMIN4 | c.1796C>A (p.Ser599Tyr) c.1763C>A (p.Ser588Tyr) c.1808C>A (p.Ser603Tyr) | gnomAD v4 |
17 | g.746248A= | CA2242474625 | GEMIN4 | c.1795T= (p.Ser599=) c.1762T= (p.Ser588=) c.1807T= (p.Ser603=) | |
17 | g.746248A>C | CA397506349 | GEMIN4 | c.1795T>G (p.Ser599Ala) c.1762T>G (p.Ser588Ala) c.1807T>G (p.Ser603Ala) | |
17 | g.746248A>G | CA397506350 | GEMIN4 | c.1795T>C (p.Ser599Pro) c.1762T>C (p.Ser588Pro) c.1807T>C (p.Ser603Pro) | ClinVar dbSNP gnomAD v4 |
17 | g.746248A>T | CA397506351 | GEMIN4 | c.1795T>A (p.Ser599Thr) c.1762T>A (p.Ser588Thr) c.1807T>A (p.Ser603Thr) | |
17 | g.746249T>A | CA497384133 | GEMIN4 | c.1794A>T (p.Ser598=) c.1761A>T (p.Ser587=) c.1806A>T (p.Ser602=) | |
17 | g.746249T>C | CA497384135 | GEMIN4 | c.1794A>G (p.Ser598=) c.1761A>G (p.Ser587=) c.1806A>G (p.Ser602=) | |
17 | g.746249T>G | CA497384138 | GEMIN4 | c.1794A>C (p.Ser598=) c.1761A>C (p.Ser587=) c.1806A>C (p.Ser602=) | |
17 | g.746250G>A | CA397506352 | GEMIN4 | c.1793C>T (p.Ser598Leu) c.1760C>T (p.Ser587Leu) c.1805C>T (p.Ser602Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746250G>C | CA397506353 | GEMIN4 | c.1793C>G (p.Ser598Ter) c.1760C>G (p.Ser587Ter) c.1805C>G (p.Ser602Ter) | |
17 | g.746250G= | CA2242474626 | GEMIN4 | c.1793C= (p.Ser598=) c.1760C= (p.Ser587=) c.1805C= (p.Ser602=) | |
17 | g.746250G>T | CA397506354 | GEMIN4 | c.1793C>A (p.Ser598Ter) c.1760C>A (p.Ser587Ter) c.1805C>A (p.Ser602Ter) | |
17 | g.746251A>C | CA397506357 | GEMIN4 | c.1792T>G (p.Ser598Ala) c.1759T>G (p.Ser587Ala) c.1804T>G (p.Ser602Ala) | |
17 | g.746251A>G | CA397506355 | GEMIN4 | c.1792T>C (p.Ser598Pro) c.1759T>C (p.Ser587Pro) c.1804T>C (p.Ser602Pro) | gnomAD v4 |
17 | g.746251A>T | CA397506356 | GEMIN4 | c.1792T>A (p.Ser598Thr) c.1759T>A (p.Ser587Thr) c.1804T>A (p.Ser602Thr) | |
17 | g.746252A>C | CA397506358 | GEMIN4 | c.1791T>G (p.Asn597Lys) c.1758T>G (p.Asn586Lys) c.1803T>G (p.Asn601Lys) | |
17 | g.746252A>G | CA497384146 | GEMIN4 | c.1791T>C (p.Asn597=) c.1758T>C (p.Asn586=) c.1803T>C (p.Asn601=) | |
17 | g.746252A>T | CA397506359 | GEMIN4 | c.1791T>A (p.Asn597Lys) c.1758T>A (p.Asn586Lys) c.1803T>A (p.Asn601Lys) | |
17 | g.746253T>A | CA397506360 | GEMIN4 | c.1790A>T (p.Asn597Ile) c.1757A>T (p.Asn586Ile) c.1802A>T (p.Asn601Ile) | |
17 | g.746253T>C | CA8262547 | GEMIN4 | c.1790A>G (p.Asn597Ser) c.1757A>G (p.Asn586Ser) c.1802A>G (p.Asn601Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746253T>G | CA397506361 | GEMIN4 | c.1790A>C (p.Asn597Thr) c.1757A>C (p.Asn586Thr) c.1802A>C (p.Asn601Thr) | |
17 | g.746253T= | CA2242474627 | GEMIN4 | c.1790A= (p.Asn597=) c.1757A= (p.Asn586=) c.1802A= (p.Asn601=) | |
17 | g.746254T>A | CA397506362 | GEMIN4 | c.1789A>T (p.Asn597Tyr) c.1756A>T (p.Asn586Tyr) c.1801A>T (p.Asn601Tyr) | |
17 | g.746254T>C | CA8262548 | GEMIN4 | c.1789A>G (p.Asn597Asp) c.1756A>G (p.Asn586Asp) c.1801A>G (p.Asn601Asp) | dbSNP ExAC gnomAD v2 |
17 | g.746254T>G | CA397506363 | GEMIN4 | c.1789A>C (p.Asn597His) c.1756A>C (p.Asn586His) c.1801A>C (p.Asn601His) | |
17 | g.746254T= | CA2242474628 | GEMIN4 | c.1789A= (p.Asn597=) c.1756A= (p.Asn586=) c.1801A= (p.Asn601=) | |
17 | g.746255G>A | CA497384156 | GEMIN4 | c.1788C>T (p.Pro596=) c.1755C>T (p.Pro585=) c.1800C>T (p.Pro600=) | |
17 | g.746255G>C | CA497384158 | GEMIN4 | c.1788C>G (p.Pro596=) c.1755C>G (p.Pro585=) c.1800C>G (p.Pro600=) | |
17 | g.746255G>T | CA497384161 | GEMIN4 | c.1788C>A (p.Pro596=) c.1755C>A (p.Pro585=) c.1800C>A (p.Pro600=) | |
17 | g.746256G>A | CA8262549 | GEMIN4 | c.1787C>T (p.Pro596Leu) c.1754C>T (p.Pro585Leu) c.1799C>T (p.Pro600Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746256G>C | CA397506364 | GEMIN4 | c.1787C>G (p.Pro596Arg) c.1754C>G (p.Pro585Arg) c.1799C>G (p.Pro600Arg) | |
17 | g.746256G= | CA2242474629 | GEMIN4 | c.1787C= (p.Pro596=) c.1754C= (p.Pro585=) c.1799C= (p.Pro600=) | |
17 | g.746256G>T | CA397506365 | GEMIN4 | c.1787C>A (p.Pro596His) c.1754C>A (p.Pro585His) c.1799C>A (p.Pro600His) | |
17 | g.746257G>A | CA397506368 | GEMIN4 | c.1786C>T (p.Pro596Ser) c.1753C>T (p.Pro585Ser) c.1798C>T (p.Pro600Ser) | |
17 | g.746257G>C | CA397506367 | GEMIN4 | c.1786C>G (p.Pro596Ala) c.1753C>G (p.Pro585Ala) c.1798C>G (p.Pro600Ala) | |
17 | g.746257G>T | CA397506366 | GEMIN4 | c.1786C>A (p.Pro596Thr) c.1753C>A (p.Pro585Thr) c.1798C>A (p.Pro600Thr) | |
17 | g.746258A>C | CA497384169 | GEMIN4 | c.1785T>G (p.Gly595=) c.1752T>G (p.Gly584=) c.1797T>G (p.Gly599=) | |
17 | g.746258A>G | CA497384170 | GEMIN4 | c.1785T>C (p.Gly595=) c.1752T>C (p.Gly584=) c.1797T>C (p.Gly599=) | |
17 | g.746258A>T | CA497384172 | GEMIN4 | c.1785T>A (p.Gly595=) c.1752T>A (p.Gly584=) c.1797T>A (p.Gly599=) | |
17 | g.746259C>A | CA397506369 | GEMIN4 | c.1784G>T (p.Gly595Val) c.1751G>T (p.Gly584Val) c.1796G>T (p.Gly599Val) | |
17 | g.746259C>G | CA397506370 | GEMIN4 | c.1784G>C (p.Gly595Ala) c.1751G>C (p.Gly584Ala) c.1796G>C (p.Gly599Ala) | |
17 | g.746259C>T | CA397506371 | GEMIN4 | c.1784G>A (p.Gly595Asp) c.1751G>A (p.Gly584Asp) c.1796G>A (p.Gly599Asp) | gnomAD v4 |
17 | g.746260C>A | CA397506372 | GEMIN4 | c.1783G>T (p.Gly595Cys) c.1750G>T (p.Gly584Cys) c.1795G>T (p.Gly599Cys) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746260C= | CA2242474630 | GEMIN4 | c.1783G= (p.Gly595=) c.1750G= (p.Gly584=) c.1795G= (p.Gly599=) | |
17 | g.746260C>G | CA397506373 | GEMIN4 | c.1783G>C (p.Gly595Arg) c.1750G>C (p.Gly584Arg) c.1795G>C (p.Gly599Arg) | |
17 | g.746260C>T | CA397506374 | GEMIN4 | c.1783G>A (p.Gly595Ser) c.1750G>A (p.Gly584Ser) c.1795G>A (p.Gly599Ser) | |
17 | g.746261C>A | CA397506375 | GEMIN4 | c.1782G>T (p.Gln594His) c.1749G>T (p.Gln583His) c.1794G>T (p.Gln598His) | |
17 | g.746261C= | CA2242474631 | GEMIN4 | c.1782G= (p.Gln594=) c.1749G= (p.Gln583=) c.1794G= (p.Gln598=) | |
17 | g.746261C>G | CA397506376 | GEMIN4 | c.1782G>C (p.Gln594His) c.1749G>C (p.Gln583His) c.1794G>C (p.Gln598His) | gnomAD v4 |
17 | g.746261C>T | CA497384175 | GEMIN4 | c.1782G>A (p.Gln594=) c.1749G>A (p.Gln583=) c.1794G>A (p.Gln598=) | dbSNP |
17 | g.746262T>A | CA397506377 | GEMIN4 | c.1781A>T (p.Gln594Leu) c.1748A>T (p.Gln583Leu) c.1793A>T (p.Gln598Leu) | COSMIC COSMIC |
17 | g.746262T>C | CA397506378 | GEMIN4 | c.1781A>G (p.Gln594Arg) c.1748A>G (p.Gln583Arg) c.1793A>G (p.Gln598Arg) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746262T>G | CA397506379 | GEMIN4 | c.1781A>C (p.Gln594Pro) c.1748A>C (p.Gln583Pro) c.1793A>C (p.Gln598Pro) | |
17 | g.746262T= | CA2242474632 | GEMIN4 | c.1781A= (p.Gln594=) c.1748A= (p.Gln583=) c.1793A= (p.Gln598=) | |
17 | g.746263G>A | CA397506380 | GEMIN4 | c.1780C>T (p.Gln594Ter) c.1747C>T (p.Gln583Ter) c.1792C>T (p.Gln598Ter) | dbSNP |
17 | g.746263G>C | CA397506381 | GEMIN4 | c.1780C>G (p.Gln594Glu) c.1747C>G (p.Gln583Glu) c.1792C>G (p.Gln598Glu) | |
17 | g.746263G>T | CA397506382 | GEMIN4 | c.1780C>A (p.Gln594Lys) c.1747C>A (p.Gln583Lys) c.1792C>A (p.Gln598Lys) | |
17 | g.746264C>A | CA397506383 | GEMIN4 | c.1779G>T (p.Glu593Asp) c.1746G>T (p.Glu582Asp) c.1791G>T (p.Glu597Asp) | |
17 | g.746264C>G | CA397506384 | GEMIN4 | c.1779G>C (p.Glu593Asp) c.1746G>C (p.Glu582Asp) c.1791G>C (p.Glu597Asp) | |
17 | g.746264C>T | CA497384184 | GEMIN4 | c.1779G>A (p.Glu593=) c.1746G>A (p.Glu582=) c.1791G>A (p.Glu597=) | |
17 | g.746265T>A | CA8262550 | GEMIN4 | c.1778A>T (p.Glu593Val) c.1745A>T (p.Glu582Val) c.1790A>T (p.Glu597Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746265T>C | CA397506385 | GEMIN4 | c.1778A>G (p.Glu593Gly) c.1745A>G (p.Glu582Gly) c.1790A>G (p.Glu597Gly) | |
17 | g.746265T>G | CA397506386 | GEMIN4 | c.1778A>C (p.Glu593Ala) c.1745A>C (p.Glu582Ala) c.1790A>C (p.Glu597Ala) | |
17 | g.746265T= | CA2242474633 | GEMIN4 | c.1778A= (p.Glu593=) c.1745A= (p.Glu582=) c.1790A= (p.Glu597=) | |
17 | g.746266C>A | CA397506387 | GEMIN4 | c.1777G>T (p.Glu593Ter) c.1744G>T (p.Glu582Ter) c.1789G>T (p.Glu597Ter) | |
17 | g.746266C= | CA2242474634 | GEMIN4 | c.1777G= (p.Glu593=) c.1744G= (p.Glu582=) c.1789G= (p.Glu597=) | |
17 | g.746266C>G | CA397506388 | GEMIN4 | c.1777G>C (p.Glu593Gln) c.1744G>C (p.Glu582Gln) c.1789G>C (p.Glu597Gln) | |
17 | g.746266C>T | CA8262551 | GEMIN4 | c.1777G>A (p.Glu593Lys) c.1744G>A (p.Glu582Lys) c.1789G>A (p.Glu597Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746267T>A | CA397506389 | GEMIN4 | c.1776A>T (p.Glu592Asp) c.1743A>T (p.Glu581Asp) c.1788A>T (p.Glu596Asp) | |
17 | g.746267T>C | CA497384195 | GEMIN4 | c.1776A>G (p.Glu592=) c.1743A>G (p.Glu581=) c.1788A>G (p.Glu596=) | gnomAD v4 |
17 | g.746267T>G | CA397506390 | GEMIN4 | c.1776A>C (p.Glu592Asp) c.1743A>C (p.Glu581Asp) c.1788A>C (p.Glu596Asp) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.746267T= | CA2242474635 | GEMIN4 | c.1776A= (p.Glu592=) c.1743A= (p.Glu581=) c.1788A= (p.Glu596=) | |
17 | g.746268T>A | CA397506391 | GEMIN4 | c.1775A>T (p.Glu592Val) c.1742A>T (p.Glu581Val) c.1787A>T (p.Glu596Val) | |
17 | g.746268T>C | CA397506392 | GEMIN4 | c.1775A>G (p.Glu592Gly) c.1742A>G (p.Glu581Gly) c.1787A>G (p.Glu596Gly) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746268T>G | CA397506393 | GEMIN4 | c.1775A>C (p.Glu592Ala) c.1742A>C (p.Glu581Ala) c.1787A>C (p.Glu596Ala) | |
17 | g.746268T= | CA2242474636 | GEMIN4 | c.1775A= (p.Glu592=) c.1742A= (p.Glu581=) c.1787A= (p.Glu596=) | |
17 | g.746269C>A | CA397506396 | GEMIN4 | c.1774G>T (p.Glu592Ter) c.1741G>T (p.Glu581Ter) c.1786G>T (p.Glu596Ter) | |
17 | g.746269C>G | CA397506395 | GEMIN4 | c.1774G>C (p.Glu592Gln) c.1741G>C (p.Glu581Gln) c.1786G>C (p.Glu596Gln) | |
17 | g.746269C>T | CA397506394 | GEMIN4 | c.1774G>A (p.Glu592Lys) c.1741G>A (p.Glu581Lys) c.1786G>A (p.Glu596Lys) | |
17 | g.746270del | CA2515812502 | GEMIN4 | c.1774del (p.Glu592LysfsTer22) c.1741del (p.Glu581LysfsTer22) c.1786del (p.Glu596LysfsTer22) | |
17 | g.746270C>A | CA497384200 | GEMIN4 | c.1773G>T (p.Val591=) c.1740G>T (p.Val580=) c.1785G>T (p.Val595=) | |
17 | g.746270C>G | CA497384202 | GEMIN4 | c.1773G>C (p.Val591=) c.1740G>C (p.Val580=) c.1785G>C (p.Val595=) | |
17 | g.746270C>T | CA497384203 | GEMIN4 | c.1773G>A (p.Val591=) c.1740G>A (p.Val580=) c.1785G>A (p.Val595=) | |
17 | g.746271A>C | CA397506397 | GEMIN4 | c.1772T>G (p.Val591Gly) c.1739T>G (p.Val580Gly) c.1784T>G (p.Val595Gly) | |
17 | g.746271A>G | CA397506398 | GEMIN4 | c.1772T>C (p.Val591Ala) c.1739T>C (p.Val580Ala) c.1784T>C (p.Val595Ala) | |
17 | g.746271A>T | CA397506399 | GEMIN4 | c.1772T>A (p.Val591Glu) c.1739T>A (p.Val580Glu) c.1784T>A (p.Val595Glu) | |
17 | g.746272C>A | CA397506400 | GEMIN4 | c.1771G>T (p.Val591Leu) c.1738G>T (p.Val580Leu) c.1783G>T (p.Val595Leu) | |
17 | g.746272C= | CA2242474637 | GEMIN4 | c.1771G= (p.Val591=) c.1738G= (p.Val580=) c.1783G= (p.Val595=) | |
17 | g.746272C>G | CA8262553 | GEMIN4 | c.1771G>C (p.Val591Leu) c.1738G>C (p.Val580Leu) c.1783G>C (p.Val595Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746272C>T | CA8262552 | GEMIN4 | c.1771G>A (p.Val591Met) c.1738G>A (p.Val580Met) c.1783G>A (p.Val595Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746273A>C | CA397506401 | GEMIN4 | c.1770T>G (p.Phe590Leu) c.1737T>G (p.Phe579Leu) c.1782T>G (p.Phe594Leu) | |
17 | g.746273A>G | CA497384206 | GEMIN4 | c.1770T>C (p.Phe590=) c.1737T>C (p.Phe579=) c.1782T>C (p.Phe594=) | |
17 | g.746273A>T | CA397506402 | GEMIN4 | c.1770T>A (p.Phe590Leu) c.1737T>A (p.Phe579Leu) c.1782T>A (p.Phe594Leu) | |
17 | g.746274A>C | CA397506403 | GEMIN4 | c.1769T>G (p.Phe590Cys) c.1736T>G (p.Phe579Cys) c.1781T>G (p.Phe594Cys) | |
17 | g.746274A>G | CA397506404 | GEMIN4 | c.1769T>C (p.Phe590Ser) c.1736T>C (p.Phe579Ser) c.1781T>C (p.Phe594Ser) | |
17 | g.746274A>T | CA397506405 | GEMIN4 | c.1769T>A (p.Phe590Tyr) c.1736T>A (p.Phe579Tyr) c.1781T>A (p.Phe594Tyr) | |
17 | g.746275A= | CA2242474638 | GEMIN4 | c.1768T= (p.Phe590=) c.1735T= (p.Phe579=) c.1780T= (p.Phe594=) | |
17 | g.746275A>C | CA397506406 | GEMIN4 | c.1768T>G (p.Phe590Val) c.1735T>G (p.Phe579Val) c.1780T>G (p.Phe594Val) | |
17 | g.746275A>G | CA397506407 | GEMIN4 | c.1768T>C (p.Phe590Leu) c.1735T>C (p.Phe579Leu) c.1780T>C (p.Phe594Leu) | |
17 | g.746275A>T | CA286713683 | GEMIN4 | c.1768T>A (p.Phe590Ile) c.1735T>A (p.Phe579Ile) c.1780T>A (p.Phe594Ile) | dbSNP |
17 | g.746276C>A | CA397506408 | GEMIN4 | c.1767G>T (p.Arg589Ser) c.1734G>T (p.Arg578Ser) c.1779G>T (p.Arg593Ser) | gnomAD v4 |
17 | g.746276C= | CA2242474639 | GEMIN4 | c.1767G= (p.Arg589=) c.1734G= (p.Arg578=) c.1779G= (p.Arg593=) | |
17 | g.746276C>G | CA8262554 | GEMIN4 | c.1767G>C (p.Arg589Ser) c.1734G>C (p.Arg578Ser) c.1779G>C (p.Arg593Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746276C>T | CA497384212 | GEMIN4 | c.1767G>A (p.Arg589=) c.1734G>A (p.Arg578=) c.1779G>A (p.Arg593=) | gnomAD v4 |
17 | g.746277C>A | CA397506409 | GEMIN4 | c.1766G>T (p.Arg589Met) c.1733G>T (p.Arg578Met) c.1778G>T (p.Arg593Met) | |
17 | g.746277C>G | CA397506410 | GEMIN4 | c.1766G>C (p.Arg589Thr) c.1733G>C (p.Arg578Thr) c.1778G>C (p.Arg593Thr) | |
17 | g.746277C>T | CA397506411 | GEMIN4 | c.1766G>A (p.Arg589Lys) c.1733G>A (p.Arg578Lys) c.1778G>A (p.Arg593Lys) | |
17 | g.746278T>A | CA397506412 | GEMIN4 | c.1765A>T (p.Arg589Trp) c.1732A>T (p.Arg578Trp) c.1777A>T (p.Arg593Trp) | gnomAD v4 |
17 | g.746278T>C | CA397506413 | GEMIN4 | c.1765A>G (p.Arg589Gly) c.1732A>G (p.Arg578Gly) c.1777A>G (p.Arg593Gly) | |
17 | g.746278T>G | CA497384223 | GEMIN4 | c.1765A>C (p.Arg589=) c.1732A>C (p.Arg578=) c.1777A>C (p.Arg593=) | |
17 | g.746279A>C | CA497384224 | GEMIN4 | c.1764T>G (p.Leu588=) c.1731T>G (p.Leu577=) c.1776T>G (p.Leu592=) | |
17 | g.746279A>G | CA497384226 | GEMIN4 | c.1764T>C (p.Leu588=) c.1731T>C (p.Leu577=) c.1776T>C (p.Leu592=) | |
17 | g.746279A>T | CA497384227 | GEMIN4 | c.1764T>A (p.Leu588=) c.1731T>A (p.Leu577=) c.1776T>A (p.Leu592=) | |
17 | g.746280A>C | CA397506416 | GEMIN4 | c.1763T>G (p.Leu588Arg) c.1730T>G (p.Leu577Arg) c.1775T>G (p.Leu592Arg) | |
17 | g.746280A>G | CA397506415 | GEMIN4 | c.1763T>C (p.Leu588Pro) c.1730T>C (p.Leu577Pro) c.1775T>C (p.Leu592Pro) | |
17 | g.746280A>T | CA397506414 | GEMIN4 | c.1763T>A (p.Leu588His) c.1730T>A (p.Leu577His) c.1775T>A (p.Leu592His) | |
17 | g.746281G>A | CA8262555 | GEMIN4 | c.1762C>T (p.Leu588Phe) c.1729C>T (p.Leu577Phe) c.1774C>T (p.Leu592Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746281G>C | CA397506417 | GEMIN4 | c.1762C>G (p.Leu588Val) c.1729C>G (p.Leu577Val) c.1774C>G (p.Leu592Val) | |
17 | g.746281G= | CA2242474640 | GEMIN4 | c.1762C= (p.Leu588=) c.1729C= (p.Leu577=) c.1774C= (p.Leu592=) | |
17 | g.746281G>T | CA397506418 | GEMIN4 | c.1762C>A (p.Leu588Ile) c.1729C>A (p.Leu577Ile) c.1774C>A (p.Leu592Ile) | |
17 | g.746282G>A | CA497384236 | GEMIN4 | c.1761C>T (p.Ala587=) c.1728C>T (p.Ala576=) c.1773C>T (p.Ala591=) | dbSNP |
17 | g.746282G>C | CA497384237 | GEMIN4 | c.1761C>G (p.Ala587=) c.1728C>G (p.Ala576=) c.1773C>G (p.Ala591=) | |
17 | g.746282G= | CA2242474641 | GEMIN4 | c.1761C= (p.Ala587=) c.1728C= (p.Ala576=) c.1773C= (p.Ala591=) | |
17 | g.746282G>T | CA497384239 | GEMIN4 | c.1761C>A (p.Ala587=) c.1728C>A (p.Ala576=) c.1773C>A (p.Ala591=) | |
17 | g.746283G>A | CA397506419 | GEMIN4 | c.1760C>T (p.Ala587Val) c.1727C>T (p.Ala576Val) c.1772C>T (p.Ala591Val) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.746283G>C | CA397506420 | GEMIN4 | c.1760C>G (p.Ala587Gly) c.1727C>G (p.Ala576Gly) c.1772C>G (p.Ala591Gly) | |
17 | g.746283G= | CA2242474642 | GEMIN4 | c.1760C= (p.Ala587=) c.1727C= (p.Ala576=) c.1772C= (p.Ala591=) | |
17 | g.746283G>T | CA397506421 | GEMIN4 | c.1760C>A (p.Ala587Asp) c.1727C>A (p.Ala576Asp) c.1772C>A (p.Ala591Asp) | |
17 | g.746284C>A | CA397506422 | GEMIN4 | c.1759G>T (p.Ala587Ser) c.1726G>T (p.Ala576Ser) c.1771G>T (p.Ala591Ser) | |
17 | g.746284C>G | CA397506424 | GEMIN4 | c.1759G>C (p.Ala587Pro) c.1726G>C (p.Ala576Pro) c.1771G>C (p.Ala591Pro) | |
17 | g.746284C>T | CA397506423 | GEMIN4 | c.1759G>A (p.Ala587Thr) c.1726G>A (p.Ala576Thr) c.1771G>A (p.Ala591Thr) | |
17 | g.746285A>C | CA497384251 | GEMIN4 | c.1758T>G (p.Pro586=) c.1725T>G (p.Pro575=) c.1770T>G (p.Pro590=) | |
17 | g.746285A>G | CA497384249 | GEMIN4 | c.1758T>C (p.Pro586=) c.1725T>C (p.Pro575=) c.1770T>C (p.Pro590=) | |
17 | g.746285A>T | CA497384246 | GEMIN4 | c.1758T>A (p.Pro586=) c.1725T>A (p.Pro575=) c.1770T>A (p.Pro590=) | |
17 | g.746286G>A | CA397506425 | GEMIN4 | c.1757C>T (p.Pro586Leu) c.1724C>T (p.Pro575Leu) c.1769C>T (p.Pro590Leu) | gnomAD v4 |
17 | g.746286G>C | CA397506426 | GEMIN4 | c.1757C>G (p.Pro586Arg) c.1724C>G (p.Pro575Arg) c.1769C>G (p.Pro590Arg) | |
17 | g.746286G>T | CA397506427 | GEMIN4 | c.1757C>A (p.Pro586His) c.1724C>A (p.Pro575His) c.1769C>A (p.Pro590His) | |
17 | g.746287G>A | CA397506428 | GEMIN4 | c.1756C>T (p.Pro586Ser) c.1723C>T (p.Pro575Ser) c.1768C>T (p.Pro590Ser) | |
17 | g.746287G>C | CA8262556 | GEMIN4 | c.1756C>G (p.Pro586Ala) c.1723C>G (p.Pro575Ala) c.1768C>G (p.Pro590Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746287G= | CA2242474643 | GEMIN4 | c.1756C= (p.Pro586=) c.1723C= (p.Pro575=) c.1768C= (p.Pro590=) | |
17 | g.746287G>T | CA397506429 | GEMIN4 | c.1756C>A (p.Pro586Thr) c.1723C>A (p.Pro575Thr) c.1768C>A (p.Pro590Thr) | |
17 | g.746288G>A | CA497384257 | GEMIN4 | c.1755C>T (p.Phe585=) c.1722C>T (p.Phe574=) c.1767C>T (p.Phe589=) | gnomAD v4 |
17 | g.746288G>C | CA397506430 | GEMIN4 | c.1755C>G (p.Phe585Leu) c.1722C>G (p.Phe574Leu) c.1767C>G (p.Phe589Leu) | |
17 | g.746288G>T | CA397506431 | GEMIN4 | c.1755C>A (p.Phe585Leu) c.1722C>A (p.Phe574Leu) c.1767C>A (p.Phe589Leu) | |
17 | g.746289A= | CA2242474644 | GEMIN4 | c.1754T= (p.Phe585=) c.1721T= (p.Phe574=) c.1766T= (p.Phe589=) | |
17 | g.746289A>C | CA397506432 | GEMIN4 | c.1754T>G (p.Phe585Cys) c.1721T>G (p.Phe574Cys) c.1766T>G (p.Phe589Cys) | |
17 | g.746289A>G | CA286713684 | GEMIN4 | c.1754T>C (p.Phe585Ser) c.1721T>C (p.Phe574Ser) c.1766T>C (p.Phe589Ser) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.746289A>T | CA397506433 | GEMIN4 | c.1754T>A (p.Phe585Tyr) c.1721T>A (p.Phe574Tyr) c.1766T>A (p.Phe589Tyr) | |
17 | g.746290_746301del | CA2576107245 | GEMIN4 | c.1743_1754del (p.Leu582_Phe585del) c.1710_1721del (p.Leu571_Phe574del) c.1755_1766del (p.Leu586_Phe589del) | |
17 | g.746290A= | CA2242474646 | GEMIN4 | c.1753T= (p.Phe585=) c.1720T= (p.Phe574=) c.1765T= (p.Phe589=) | |
17 | g.746290A>C | CA397506436 | GEMIN4 | c.1753T>G (p.Phe585Val) c.1720T>G (p.Phe574Val) c.1765T>G (p.Phe589Val) | gnomAD v4 |
17 | g.746290A>G | CA397506435 | GEMIN4 | c.1753T>C (p.Phe585Leu) c.1720T>C (p.Phe574Leu) c.1765T>C (p.Phe589Leu) | dbSNP gnomAD v4 |
17 | g.746290A>T | CA397506434 | GEMIN4 | c.1753T>A (p.Phe585Ile) c.1720T>A (p.Phe574Ile) c.1765T>A (p.Phe589Ile) | |
17 | g.746290_746291delinsAG | CA2242474645 | GEMIN4 | c.1752_1753delinsCT (p.Ala584=) c.1719_1720delinsCT (p.Ala573=) c.1764_1765delinsCT (p.Ala588=) | |
17 | g.746291G>A | CA497384269 | GEMIN4 | c.1752C>T (p.Ala584=) c.1719C>T (p.Ala573=) c.1764C>T (p.Ala588=) | |
17 | g.746291G>C | CA497384270 | GEMIN4 | c.1752C>G (p.Ala584=) c.1719C>G (p.Ala573=) c.1764C>G (p.Ala588=) | |
17 | g.746291G>T | CA497384268 | GEMIN4 | c.1752C>A (p.Ala584=) c.1719C>A (p.Ala573=) c.1764C>A (p.Ala588=) | |
17 | g.746292del | CA624456782 | GEMIN4 | c.1752del (p.Phe585SerfsTer29) c.1719del (p.Phe574SerfsTer29) c.1764del (p.Phe589SerfsTer29) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746292G>A | CA397506437 | GEMIN4 | c.1751C>T (p.Ala584Val) c.1718C>T (p.Ala573Val) c.1763C>T (p.Ala588Val) | |
17 | g.746292G>C | CA397506438 | GEMIN4 | c.1751C>G (p.Ala584Gly) c.1718C>G (p.Ala573Gly) c.1763C>G (p.Ala588Gly) | |
17 | g.746292G>T | CA397506439 | GEMIN4 | c.1751C>A (p.Ala584Asp) c.1718C>A (p.Ala573Asp) c.1763C>A (p.Ala588Asp) | gnomAD v4 |
17 | g.746292_746293delinsGC | CA2242474647 | GEMIN4 | c.1750_1751delinsGC (p.Ala584=) c.1717_1718delinsGC (p.Ala573=) c.1762_1763delinsGC (p.Ala588=) | |
17 | g.746293del | CA8262557 | GEMIN4 | c.1750del (p.Ala584ProfsTer30) c.1717del (p.Ala573ProfsTer30) c.1762del (p.Ala588ProfsTer30) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746293C>A | CA397506440 | GEMIN4 | c.1750G>T (p.Ala584Ser) c.1717G>T (p.Ala573Ser) c.1762G>T (p.Ala588Ser) | |
17 | g.746293C>G | CA397506441 | GEMIN4 | c.1750G>C (p.Ala584Pro) c.1717G>C (p.Ala573Pro) c.1762G>C (p.Ala588Pro) | gnomAD v4 |
17 | g.746293C>T | CA397506442 | GEMIN4 | c.1750G>A (p.Ala584Thr) c.1717G>A (p.Ala573Thr) c.1762G>A (p.Ala588Thr) | |
17 | g.746294A>C | CA497384278 | GEMIN4 | c.1749T>G (p.Thr583=) c.1716T>G (p.Thr572=) c.1761T>G (p.Thr587=) | |
17 | g.746294A>G | CA497384279 | GEMIN4 | c.1749T>C (p.Thr583=) c.1716T>C (p.Thr572=) c.1761T>C (p.Thr587=) | |
17 | g.746294A>T | CA497384281 | GEMIN4 | c.1749T>A (p.Thr583=) c.1716T>A (p.Thr572=) c.1761T>A (p.Thr587=) | |
17 | g.746295G>A | CA8262558 | GEMIN4 | c.1748C>T (p.Thr583Ile) c.1715C>T (p.Thr572Ile) c.1760C>T (p.Thr587Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746295G>C | CA397506443 | GEMIN4 | c.1748C>G (p.Thr583Ser) c.1715C>G (p.Thr572Ser) c.1760C>G (p.Thr587Ser) | gnomAD v4 |
17 | g.746295G= | CA2242474648 | GEMIN4 | c.1748C= (p.Thr583=) c.1715C= (p.Thr572=) c.1760C= (p.Thr587=) | |
17 | g.746295G>T | CA397506444 | GEMIN4 | c.1748C>A (p.Thr583Asn) c.1715C>A (p.Thr572Asn) c.1760C>A (p.Thr587Asn) | |
17 | g.746296T>A | CA397506445 | GEMIN4 | c.1747A>T (p.Thr583Ser) c.1714A>T (p.Thr572Ser) c.1759A>T (p.Thr587Ser) | |
17 | g.746296T>C | CA397506446 | GEMIN4 | c.1747A>G (p.Thr583Ala) c.1714A>G (p.Thr572Ala) c.1759A>G (p.Thr587Ala) | |
17 | g.746296T>G | CA397506447 | GEMIN4 | c.1747A>C (p.Thr583Pro) c.1714A>C (p.Thr572Pro) c.1759A>C (p.Thr587Pro) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746296T= | CA2242474649 | GEMIN4 | c.1747A= (p.Thr583=) c.1714A= (p.Thr572=) c.1759A= (p.Thr587=) | |
17 | g.746297G>A | CA497384288 | GEMIN4 | c.1746C>T (p.Leu582=) c.1713C>T (p.Leu571=) c.1758C>T (p.Leu586=) | gnomAD v4 |
17 | g.746297G>C | CA497384290 | GEMIN4 | c.1746C>G (p.Leu582=) c.1713C>G (p.Leu571=) c.1758C>G (p.Leu586=) | gnomAD v4 COSMIC COSMIC |
17 | g.746297G>T | CA497384291 | GEMIN4 | c.1746C>A (p.Leu582=) c.1713C>A (p.Leu571=) c.1758C>A (p.Leu586=) | |
17 | g.746298A>C | CA397506450 | GEMIN4 | c.1745T>G (p.Leu582Arg) c.1712T>G (p.Leu571Arg) c.1757T>G (p.Leu586Arg) | |
17 | g.746298A>G | CA397506449 | GEMIN4 | c.1745T>C (p.Leu582Pro) c.1712T>C (p.Leu571Pro) c.1757T>C (p.Leu586Pro) | |
17 | g.746298A>T | CA397506448 | GEMIN4 | c.1745T>A (p.Leu582His) c.1712T>A (p.Leu571His) c.1757T>A (p.Leu586His) | |
17 | g.746299G>A | CA397506451 | GEMIN4 | c.1744C>T (p.Leu582Phe) c.1711C>T (p.Leu571Phe) c.1756C>T (p.Leu586Phe) | gnomAD v4 |
17 | g.746299G>C | CA8262559 | GEMIN4 | c.1744C>G (p.Leu582Val) c.1711C>G (p.Leu571Val) c.1756C>G (p.Leu586Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746299G= | CA2242474650 | GEMIN4 | c.1744C= (p.Leu582=) c.1711C= (p.Leu571=) c.1756C= (p.Leu586=) | |
17 | g.746299G>T | CA397506452 | GEMIN4 | c.1744C>A (p.Leu582Ile) c.1711C>A (p.Leu571Ile) c.1756C>A (p.Leu586Ile) | |
17 | g.746300A= | CA2242474651 | GEMIN4 | c.1743T= (p.Ile581=) c.1710T= (p.Ile570=) c.1755T= (p.Ile585=) | |
17 | g.746300A>C | CA397506453 | GEMIN4 | c.1743T>G (p.Ile581Met) c.1710T>G (p.Ile570Met) c.1755T>G (p.Ile585Met) | |
17 | g.746300A>G | CA497384293 | GEMIN4 | c.1743T>C (p.Ile581=) c.1710T>C (p.Ile570=) c.1755T>C (p.Ile585=) | |
17 | g.746300A>T | CA497384294 | GEMIN4 | c.1743T>A (p.Ile581=) c.1710T>A (p.Ile570=) c.1755T>A (p.Ile585=) | dbSNP |
17 | g.746301A>C | CA397506456 | GEMIN4 | c.1742T>G (p.Ile581Ser) c.1709T>G (p.Ile570Ser) c.1754T>G (p.Ile585Ser) | |
17 | g.746301A>G | CA397506454 | GEMIN4 | c.1742T>C (p.Ile581Thr) c.1709T>C (p.Ile570Thr) c.1754T>C (p.Ile585Thr) | |
17 | g.746301A>T | CA397506455 | GEMIN4 | c.1742T>A (p.Ile581Asn) c.1709T>A (p.Ile570Asn) c.1754T>A (p.Ile585Asn) | |
17 | g.746302T>A | CA397506457 | GEMIN4 | c.1741A>T (p.Ile581Phe) c.1708A>T (p.Ile570Phe) c.1753A>T (p.Ile585Phe) | gnomAD v4 |
17 | g.746302T>C | CA397506458 | GEMIN4 | c.1741A>G (p.Ile581Val) c.1708A>G (p.Ile570Val) c.1753A>G (p.Ile585Val) | |
17 | g.746302T>G | CA397506459 | GEMIN4 | c.1741A>C (p.Ile581Leu) c.1708A>C (p.Ile570Leu) c.1753A>C (p.Ile585Leu) | |
17 | g.746303_746304insAGTC | CA2635153328 | GEMIN4 | c.1741_1742insCTGA (p.Ile581ThrfsTer10) c.1708_1709insCTGA (p.Ile570ThrfsTer10) c.1753_1754insCTGA (p.Ile585ThrfsTer10) | gnomAD v4 |
17 | g.746303C>A | CA397506460 | GEMIN4 | c.1740G>T (p.Gln580His) c.1707G>T (p.Gln569His) c.1752G>T (p.Gln584His) | |
17 | g.746303C>G | CA397506461 | GEMIN4 | c.1740G>C (p.Gln580His) c.1707G>C (p.Gln569His) c.1752G>C (p.Gln584His) | COSMIC COSMIC |
17 | g.746303C>T | CA497384295 | GEMIN4 | c.1740G>A (p.Gln580=) c.1707G>A (p.Gln569=) c.1752G>A (p.Gln584=) | |
17 | g.746304T>A | CA397506462 | GEMIN4 | c.1739A>T (p.Gln580Leu) c.1706A>T (p.Gln569Leu) c.1751A>T (p.Gln584Leu) | |
17 | g.746304T>C | CA8262561 | GEMIN4 | c.1739A>G (p.Gln580Arg) c.1706A>G (p.Gln569Arg) c.1751A>G (p.Gln584Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746304T>G | CA8262560 | GEMIN4 | c.1739A>C (p.Gln580Pro) c.1706A>C (p.Gln569Pro) c.1751A>C (p.Gln584Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.746304T= | CA2242474652 | GEMIN4 | c.1739A= (p.Gln580=) c.1706A= (p.Gln569=) c.1751A= (p.Gln584=) | |
17 | g.746305G>A | CA397506463 | GEMIN4 | c.1738C>T (p.Gln580Ter) c.1705C>T (p.Gln569Ter) c.1750C>T (p.Gln584Ter) | |
17 | g.746305G>C | CA397506464 | GEMIN4 | c.1738C>G (p.Gln580Glu) c.1705C>G (p.Gln569Glu) c.1750C>G (p.Gln584Glu) | |
17 | g.746305G>T | CA397506465 | GEMIN4 | c.1738C>A (p.Gln580Lys) c.1705C>A (p.Gln569Lys) c.1750C>A (p.Gln584Lys) | |
17 | g.746306G>A | CA497384297 | GEMIN4 | c.1737C>T (p.Ala579=) c.1704C>T (p.Ala568=) c.1749C>T (p.Ala583=) | |
17 | g.746306G>C | CA497384298 | GEMIN4 | c.1737C>G (p.Ala579=) c.1704C>G (p.Ala568=) c.1749C>G (p.Ala583=) | |
17 | g.746306G>T | CA497384299 | GEMIN4 | c.1737C>A (p.Ala579=) c.1704C>A (p.Ala568=) c.1749C>A (p.Ala583=) | |
17 | g.746307G>A | CA397506466 | GEMIN4 | c.1736C>T (p.Ala579Val) c.1703C>T (p.Ala568Val) c.1748C>T (p.Ala583Val) | dbSNP |
17 | g.746307G>C | CA8262562 | GEMIN4 | c.1736C>G (p.Ala579Gly) c.1703C>G (p.Ala568Gly) c.1748C>G (p.Ala583Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746307G= | CA2242474653 | GEMIN4 | c.1736C= (p.Ala579=) c.1703C= (p.Ala568=) c.1748C= (p.Ala583=) | |
17 | g.746307G>T | CA397506467 | GEMIN4 | c.1736C>A (p.Ala579Asp) c.1703C>A (p.Ala568Asp) c.1748C>A (p.Ala583Asp) | dbSNP |
17 | g.746308C>A | CA397506468 | GEMIN4 | c.1735G>T (p.Ala579Ser) c.1702G>T (p.Ala568Ser) c.1747G>T (p.Ala583Ser) | |
17 | g.746308C>G | CA397506469 | GEMIN4 | c.1735G>C (p.Ala579Pro) c.1702G>C (p.Ala568Pro) c.1747G>C (p.Ala583Pro) | |
17 | g.746308C>T | CA397506470 | GEMIN4 | c.1735G>A (p.Ala579Thr) c.1702G>A (p.Ala568Thr) c.1747G>A (p.Ala583Thr) | gnomAD v4 |
17 | g.746309C>A | CA497384301 | GEMIN4 | c.1734G>T (p.Leu578=) c.1701G>T (p.Leu567=) c.1746G>T (p.Leu582=) | |
17 | g.746309C>G | CA497384304 | GEMIN4 | c.1734G>C (p.Leu578=) c.1701G>C (p.Leu567=) c.1746G>C (p.Leu582=) | |
17 | g.746309C>T | CA497384302 | GEMIN4 | c.1734G>A (p.Leu578=) c.1701G>A (p.Leu567=) c.1746G>A (p.Leu582=) | |
17 | g.746310A= | CA2242474654 | GEMIN4 | c.1733T= (p.Leu578=) c.1700T= (p.Leu567=) c.1745T= (p.Leu582=) | |
17 | g.746310A>C | CA397506471 | GEMIN4 | c.1733T>G (p.Leu578Arg) c.1700T>G (p.Leu567Arg) c.1745T>G (p.Leu582Arg) | |
17 | g.746310A>G | CA8262563 | GEMIN4 | c.1733T>C (p.Leu578Pro) c.1700T>C (p.Leu567Pro) c.1745T>C (p.Leu582Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746310A>T | CA397506472 | GEMIN4 | c.1733T>A (p.Leu578Gln) c.1700T>A (p.Leu567Gln) c.1745T>A (p.Leu582Gln) | |
17 | g.746311G>A | CA497384307 | GEMIN4 | c.1732C>T (p.Leu578=) c.1699C>T (p.Leu567=) c.1744C>T (p.Leu582=) | |
17 | g.746311G>C | CA397506473 | GEMIN4 | c.1732C>G (p.Leu578Val) c.1699C>G (p.Leu567Val) c.1744C>G (p.Leu582Val) | |
17 | g.746311G>T | CA397506474 | GEMIN4 | c.1732C>A (p.Leu578Met) c.1699C>A (p.Leu567Met) c.1744C>A (p.Leu582Met) | |
17 | g.746312G>A | CA497384308 | GEMIN4 | c.1731C>T (p.Phe577=) c.1698C>T (p.Phe566=) c.1743C>T (p.Phe581=) | |
17 | g.746312G>C | CA397506475 | GEMIN4 | c.1731C>G (p.Phe577Leu) c.1698C>G (p.Phe566Leu) c.1743C>G (p.Phe581Leu) | |
17 | g.746312G>T | CA397506476 | GEMIN4 | c.1731C>A (p.Phe577Leu) c.1698C>A (p.Phe566Leu) c.1743C>A (p.Phe581Leu) | |
17 | g.746313A>C | CA397506479 | GEMIN4 | c.1730T>G (p.Phe577Cys) c.1697T>G (p.Phe566Cys) c.1742T>G (p.Phe581Cys) | |
17 | g.746313A>G | CA397506478 | GEMIN4 | c.1730T>C (p.Phe577Ser) c.1697T>C (p.Phe566Ser) c.1742T>C (p.Phe581Ser) | gnomAD v4 |
17 | g.746313A>T | CA397506477 | GEMIN4 | c.1730T>A (p.Phe577Tyr) c.1697T>A (p.Phe566Tyr) c.1742T>A (p.Phe581Tyr) | |
17 | g.746314A>C | CA397506480 | GEMIN4 | c.1729T>G (p.Phe577Val) c.1696T>G (p.Phe566Val) c.1741T>G (p.Phe581Val) | |
17 | g.746314A>G | CA397506481 | GEMIN4 | c.1729T>C (p.Phe577Leu) c.1696T>C (p.Phe566Leu) c.1741T>C (p.Phe581Leu) | |
17 | g.746314A>T | CA397506482 | GEMIN4 | c.1729T>A (p.Phe577Ile) c.1696T>A (p.Phe566Ile) c.1741T>A (p.Phe581Ile) | |
17 | g.746315C>A | CA8262564 | GEMIN4 | c.1728G>T (p.Lys576Asn) c.1695G>T (p.Lys565Asn) c.1740G>T (p.Lys580Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746315C= | CA2242474655 | GEMIN4 | c.1728G= (p.Lys576=) c.1695G= (p.Lys565=) c.1740G= (p.Lys580=) | |
17 | g.746315C>G | CA397506483 | GEMIN4 | c.1728G>C (p.Lys576Asn) c.1695G>C (p.Lys565Asn) c.1740G>C (p.Lys580Asn) | |
17 | g.746315C>T | CA497384314 | GEMIN4 | c.1728G>A (p.Lys576=) c.1695G>A (p.Lys565=) c.1740G>A (p.Lys580=) | gnomAD v4 |
17 | g.746316T>A | CA397506484 | GEMIN4 | c.1727A>T (p.Lys576Met) c.1694A>T (p.Lys565Met) c.1739A>T (p.Lys580Met) | |
17 | g.746316T>C | CA8262565 | GEMIN4 | c.1727A>G (p.Lys576Arg) c.1694A>G (p.Lys565Arg) c.1739A>G (p.Lys580Arg) | dbSNP ExAC gnomAD v2 |
17 | g.746316T>G | CA397506485 | GEMIN4 | c.1727A>C (p.Lys576Thr) c.1694A>C (p.Lys565Thr) c.1739A>C (p.Lys580Thr) | gnomAD v4 |
17 | g.746316T= | CA2242474656 | GEMIN4 | c.1727A= (p.Lys576=) c.1694A= (p.Lys565=) c.1739A= (p.Lys580=) | |
17 | g.746317T>A | CA397506486 | GEMIN4 | c.1726A>T (p.Lys576Ter) c.1693A>T (p.Lys565Ter) c.1738A>T (p.Lys580Ter) | gnomAD v4 |
17 | g.746317T>C | CA397506487 | GEMIN4 | c.1726A>G (p.Lys576Glu) c.1693A>G (p.Lys565Glu) c.1738A>G (p.Lys580Glu) | |
17 | g.746317T>G | CA397506488 | GEMIN4 | c.1726A>C (p.Lys576Gln) c.1693A>C (p.Lys565Gln) c.1738A>C (p.Lys580Gln) | |
17 | g.746318G>A | CA497384318 | GEMIN4 | c.1725C>T (p.His575=) c.1692C>T (p.His564=) c.1737C>T (p.His579=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746318G>C | CA397506489 | GEMIN4 | c.1725C>G (p.His575Gln) c.1692C>G (p.His564Gln) c.1737C>G (p.His579Gln) | dbSNP gnomAD v4 |
17 | g.746318G= | CA2242474657 | GEMIN4 | c.1725C= (p.His575=) c.1692C= (p.His564=) c.1737C= (p.His579=) | |
17 | g.746318G>T | CA397506490 | GEMIN4 | c.1725C>A (p.His575Gln) c.1692C>A (p.His564Gln) c.1737C>A (p.His579Gln) | |
17 | g.746319T>A | CA8262566 | GEMIN4 | c.1724A>T (p.His575Leu) c.1691A>T (p.His564Leu) c.1736A>T (p.His579Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746319T>C | CA397506492 | GEMIN4 | c.1724A>G (p.His575Arg) c.1691A>G (p.His564Arg) c.1736A>G (p.His579Arg) | |
17 | g.746319T>G | CA397506491 | GEMIN4 | c.1724A>C (p.His575Pro) c.1691A>C (p.His564Pro) c.1736A>C (p.His579Pro) | |
17 | g.746319T= | CA2242474658 | GEMIN4 | c.1724A= (p.His575=) c.1691A= (p.His564=) c.1736A= (p.His579=) | |
17 | g.746320G>A | CA397506493 | GEMIN4 | c.1723C>T (p.His575Tyr) c.1690C>T (p.His564Tyr) c.1735C>T (p.His579Tyr) | |
17 | g.746320G>C | CA397506494 | GEMIN4 | c.1723C>G (p.His575Asp) c.1690C>G (p.His564Asp) c.1735C>G (p.His579Asp) | |
17 | g.746320G>T | CA397506495 | GEMIN4 | c.1723C>A (p.His575Asn) c.1690C>A (p.His564Asn) c.1735C>A (p.His579Asn) | |
17 | g.746322del | CA2576107246 | GEMIN4 | c.1723del (p.His575ThrfsTer?) c.1690del (p.His564ThrfsTer?) c.1735del (p.His579ThrfsTer?) | |
17 | g.746321G>A | CA497384322 | GEMIN4 | c.1722C>T (p.Thr574=) c.1689C>T (p.Thr563=) c.1734C>T (p.Thr578=) | |
17 | g.746321G>C | CA8262567 | GEMIN4 | c.1722C>G (p.Thr574=) c.1689C>G (p.Thr563=) c.1734C>G (p.Thr578=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746321G= | CA2242474659 | GEMIN4 | c.1722C= (p.Thr574=) c.1689C= (p.Thr563=) c.1734C= (p.Thr578=) | |
17 | g.746321G>T | CA497384324 | GEMIN4 | c.1722C>A (p.Thr574=) c.1689C>A (p.Thr563=) c.1734C>A (p.Thr578=) | |
17 | g.746322G>A | CA397506496 | GEMIN4 | c.1721C>T (p.Thr574Ile) c.1688C>T (p.Thr563Ile) c.1733C>T (p.Thr578Ile) | dbSNP gnomAD v4 |
17 | g.746322G>C | CA397506497 | GEMIN4 | c.1721C>G (p.Thr574Ser) c.1688C>G (p.Thr563Ser) c.1733C>G (p.Thr578Ser) | |
17 | g.746322G= | CA2242474660 | GEMIN4 | c.1721C= (p.Thr574=) c.1688C= (p.Thr563=) c.1733C= (p.Thr578=) | |
17 | g.746322G>T | CA397506498 | GEMIN4 | c.1721C>A (p.Thr574Asn) c.1688C>A (p.Thr563Asn) c.1733C>A (p.Thr578Asn) | |
17 | g.746323T>A | CA397506499 | GEMIN4 | c.1720A>T (p.Thr574Ser) c.1687A>T (p.Thr563Ser) c.1732A>T (p.Thr578Ser) | |
17 | g.746323T>C | CA397506500 | GEMIN4 | c.1720A>G (p.Thr574Ala) c.1687A>G (p.Thr563Ala) c.1732A>G (p.Thr578Ala) | dbSNP |
17 | g.746323T>G | CA397506501 | GEMIN4 | c.1720A>C (p.Thr574Pro) c.1687A>C (p.Thr563Pro) c.1732A>C (p.Thr578Pro) | |
17 | g.746323T= | CA2242474661 | GEMIN4 | c.1720A= (p.Thr574=) c.1687A= (p.Thr563=) c.1732A= (p.Thr578=) | |
17 | g.746324G>A | CA286713685 | GEMIN4 | c.1719C>T (p.Gly573=) c.1686C>T (p.Gly562=) c.1731C>T (p.Gly577=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746324G>C | CA497384326 | GEMIN4 | c.1719C>G (p.Gly573=) c.1686C>G (p.Gly562=) c.1731C>G (p.Gly577=) | |
17 | g.746324G= | CA2242474662 | GEMIN4 | c.1719C= (p.Gly573=) c.1686C= (p.Gly562=) c.1731C= (p.Gly577=) | |
17 | g.746324G>T | CA8262568 | GEMIN4 | c.1719C>A (p.Gly573=) c.1686C>A (p.Gly562=) c.1731C>A (p.Gly577=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746325C>A | CA397506503 | GEMIN4 | c.1718G>T (p.Gly573Val) c.1685G>T (p.Gly562Val) c.1730G>T (p.Gly577Val) | |
17 | g.746325C>G | CA397506504 | GEMIN4 | c.1718G>C (p.Gly573Ala) c.1685G>C (p.Gly562Ala) c.1730G>C (p.Gly577Ala) | |
17 | g.746325C>T | CA397506502 | GEMIN4 | c.1718G>A (p.Gly573Asp) c.1685G>A (p.Gly562Asp) c.1730G>A (p.Gly577Asp) | |
17 | g.746326del | CA2733059820 | GEMIN4 | c.1718del (p.Gly573AlafsTer?) c.1685del (p.Gly562AlafsTer?) c.1730del (p.Gly577AlafsTer?) | dbSNP |
17 | g.746326C>A | CA397506506 | GEMIN4 | c.1717G>T (p.Gly573Cys) c.1684G>T (p.Gly562Cys) c.1729G>T (p.Gly577Cys) | |
17 | g.746326C= | CA2242474663 | GEMIN4 | c.1717G= (p.Gly573=) c.1684G= (p.Gly562=) c.1729G= (p.Gly577=) | |
17 | g.746326C>G | CA397506505 | GEMIN4 | c.1717G>C (p.Gly573Arg) c.1684G>C (p.Gly562Arg) c.1729G>C (p.Gly577Arg) | |
17 | g.746326C>T | CA8262569 | GEMIN4 | c.1717G>A (p.Gly573Ser) c.1684G>A (p.Gly562Ser) c.1729G>A (p.Gly577Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746327G>A | CA8262570 | GEMIN4 | c.1716C>T (p.Leu572=) c.1683C>T (p.Leu561=) c.1728C>T (p.Leu576=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746327G>C | CA497384329 | GEMIN4 | c.1716C>G (p.Leu572=) c.1683C>G (p.Leu561=) c.1728C>G (p.Leu576=) | |
17 | g.746327G= | CA2242474664 | GEMIN4 | c.1716C= (p.Leu572=) c.1683C= (p.Leu561=) c.1728C= (p.Leu576=) | |
17 | g.746327G>T | CA497384330 | GEMIN4 | c.1716C>A (p.Leu572=) c.1683C>A (p.Leu561=) c.1728C>A (p.Leu576=) | |
17 | g.746328A= | CA2242474665 | GEMIN4 | c.1715T= (p.Leu572=) c.1682T= (p.Leu561=) c.1727T= (p.Leu576=) | |
17 | g.746328A>C | CA8262572 | GEMIN4 | c.1715T>G (p.Leu572Arg) c.1682T>G (p.Leu561Arg) c.1727T>G (p.Leu576Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746328A>G | CA397506507 | GEMIN4 | c.1715T>C (p.Leu572Pro) c.1682T>C (p.Leu561Pro) c.1727T>C (p.Leu576Pro) | |
17 | g.746328A>T | CA397506508 | GEMIN4 | c.1715T>A (p.Leu572His) c.1682T>A (p.Leu561His) c.1727T>A (p.Leu576His) | |
17 | g.746328dup | CA8262571 | GEMIN4 | c.1715dup (p.Gly573ArgfsTer17) c.1682dup (p.Gly562ArgfsTer17) c.1727dup (p.Gly577ArgfsTer17) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746329G>A | CA397506509 | GEMIN4 | c.1714C>T (p.Leu572Phe) c.1681C>T (p.Leu561Phe) c.1726C>T (p.Leu576Phe) | gnomAD v4 |
17 | g.746329G>C | CA397506510 | GEMIN4 | c.1714C>G (p.Leu572Val) c.1681C>G (p.Leu561Val) c.1726C>G (p.Leu576Val) | COSMIC COSMIC |
17 | g.746329G>T | CA397506511 | GEMIN4 | c.1714C>A (p.Leu572Ile) c.1681C>A (p.Leu561Ile) c.1726C>A (p.Leu576Ile) | |
17 | g.746330A>C | CA397506512 | GEMIN4 | c.1713T>G (p.Asn571Lys) c.1680T>G (p.Asn560Lys) c.1725T>G (p.Asn575Lys) | |
17 | g.746330A>G | CA497384334 | GEMIN4 | c.1713T>C (p.Asn571=) c.1680T>C (p.Asn560=) c.1725T>C (p.Asn575=) | |
17 | g.746330A>T | CA397506513 | GEMIN4 | c.1713T>A (p.Asn571Lys) c.1680T>A (p.Asn560Lys) c.1725T>A (p.Asn575Lys) | |
17 | g.746331T>A | CA8262574 | GEMIN4 | c.1712A>T (p.Asn571Ile) c.1679A>T (p.Asn560Ile) c.1724A>T (p.Asn575Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746331T>C | CA8262573 | GEMIN4 | c.1712A>G (p.Asn571Ser) c.1679A>G (p.Asn560Ser) c.1724A>G (p.Asn575Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746331T>G | CA397506514 | GEMIN4 | c.1712A>C (p.Asn571Thr) c.1679A>C (p.Asn560Thr) c.1724A>C (p.Asn575Thr) | |
17 | g.746331T= | CA2242474666 | GEMIN4 | c.1712A= (p.Asn571=) c.1679A= (p.Asn560=) c.1724A= (p.Asn575=) | |
17 | g.746332T>A | CA397506515 | GEMIN4 | c.1711A>T (p.Asn571Tyr) c.1678A>T (p.Asn560Tyr) c.1723A>T (p.Asn575Tyr) | |
17 | g.746332T>C | CA397506516 | GEMIN4 | c.1711A>G (p.Asn571Asp) c.1678A>G (p.Asn560Asp) c.1723A>G (p.Asn575Asp) | |
17 | g.746332T>G | CA397506517 | GEMIN4 | c.1711A>C (p.Asn571His) c.1678A>C (p.Asn560His) c.1723A>C (p.Asn575His) | |
17 | g.746333G>A | CA497384216 | GEMIN4 | c.1710C>T (p.Val570=) c.1677C>T (p.Val559=) c.1722C>T (p.Val574=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.746333G>C | CA497384217 | GEMIN4 | c.1710C>G (p.Val570=) c.1677C>G (p.Val559=) c.1722C>G (p.Val574=) | |
17 | g.746333G= | CA2242474667 | GEMIN4 | c.1710C= (p.Val570=) c.1677C= (p.Val559=) c.1722C= (p.Val574=) | |
17 | g.746333G>T | CA497384219 | GEMIN4 | c.1710C>A (p.Val570=) c.1677C>A (p.Val559=) c.1722C>A (p.Val574=) | |
17 | g.746334A= | CA2242474668 | GEMIN4 | c.1709T= (p.Val570=) c.1676T= (p.Val559=) c.1721T= (p.Val574=) | |
17 | g.746334A>C | CA397506518 | GEMIN4 | c.1709T>G (p.Val570Gly) c.1676T>G (p.Val559Gly) c.1721T>G (p.Val574Gly) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746334A>G | CA397506519 | GEMIN4 | c.1709T>C (p.Val570Ala) c.1676T>C (p.Val559Ala) c.1721T>C (p.Val574Ala) | |
17 | g.746334A>T | CA397506520 | GEMIN4 | c.1709T>A (p.Val570Asp) c.1676T>A (p.Val559Asp) c.1721T>A (p.Val574Asp) | |
17 | g.746335C>A | CA397506521 | GEMIN4 | c.1708G>T (p.Val570Phe) c.1675G>T (p.Val559Phe) c.1720G>T (p.Val574Phe) | gnomAD v4 |
17 | g.746335C>G | CA397506523 | GEMIN4 | c.1708G>C (p.Val570Leu) c.1675G>C (p.Val559Leu) c.1720G>C (p.Val574Leu) | dbSNP |
17 | g.746335C>T | CA397506522 | GEMIN4 | c.1708G>A (p.Val570Ile) c.1675G>A (p.Val559Ile) c.1720G>A (p.Val574Ile) | |
17 | g.746336C>A | CA497384230 | GEMIN4 | c.1707G>T (p.Val569=) c.1674G>T (p.Val558=) c.1719G>T (p.Val573=) | |
17 | g.746336C= | CA2242474669 | GEMIN4 | c.1707G= (p.Val569=) c.1674G= (p.Val558=) c.1719G= (p.Val573=) | |
17 | g.746336C>G | CA497384228 | GEMIN4 | c.1707G>C (p.Val569=) c.1674G>C (p.Val558=) c.1719G>C (p.Val573=) | |
17 | g.746336C>T | CA8262575 | GEMIN4 | c.1707G>A (p.Val569=) c.1674G>A (p.Val558=) c.1719G>A (p.Val573=) | dbSNP ExAC gnomAD v2 gnomAD v4 |