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 |
|---|---|---|---|---|---|
| 3 | g.165046871C>A | CA2690932 | SI | c.1857G>T (p.Met619Ile) c.1758G>T (p.Met586Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.165046871C= | CA1417400290 | SI | c.1857G= (p.Met619=) c.1758G= (p.Met586=) | |
| 3 | g.165046871C>G | CA355052106 | SI | c.1857G>C (p.Met619Ile) c.1758G>C (p.Met586Ile) | |
| 3 | g.165046871C>T | CA355052107 | SI | c.1857G>A (p.Met619Ile) c.1758G>A (p.Met586Ile) | dbSNP |
| 3 | g.165046872A>C | CA355052108 | SI | c.1856T>G (p.Met619Arg) c.1757T>G (p.Met586Arg) | |
| 3 | g.165046872A>G | CA355052109 | SI | c.1856T>C (p.Met619Thr) c.1757T>C (p.Met586Thr) | gnomAD v4 |
| 3 | g.165046872A>T | CA355052110 | SI | c.1856T>A (p.Met619Lys) c.1757T>A (p.Met586Lys) | |
| 3 | g.165046873T>A | CA355052111 | SI | c.1855A>T (p.Met619Leu) c.1756A>T (p.Met586Leu) | |
| 3 | g.165046873T>C | CA355052112 | SI | c.1855A>G (p.Met619Val) c.1756A>G (p.Met586Val) | |
| 3 | g.165046873T>G | CA355052113 | SI | c.1855A>C (p.Met619Leu) c.1756A>C (p.Met586Leu) | |
| 3 | g.165046874T>A | CA436706648 | SI | c.1854A>T (p.Gly618=) c.1755A>T (p.Gly585=) | |
| 3 | g.165046874T>C | CA436706649 | SI | c.1854A>G (p.Gly618=) c.1755A>G (p.Gly585=) | |
| 3 | g.165046874T>G | CA436706650 | SI | c.1854A>C (p.Gly618=) c.1755A>C (p.Gly585=) | |
| 3 | g.165046875C>A | CA355052114 | SI | c.1853G>T (p.Gly618Val) c.1754G>T (p.Gly585Val) | |
| 3 | g.165046875C= | CA1417400293 | SI | c.1853G= (p.Gly618=) c.1754G= (p.Gly585=) | |
| 3 | g.165046875C>G | CA355052115 | SI | c.1853G>C (p.Gly618Ala) c.1754G>C (p.Gly585Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.165046875C>T | CA355052116 | SI | c.1853G>A (p.Gly618Glu) c.1754G>A (p.Gly585Glu) | |
| 3 | g.165046876C>A | CA355052117 | SI | c.1852G>T (p.Gly618Ter) c.1753G>T (p.Gly585Ter) | |
| 3 | g.165046876C>G | CA355052119 | SI | c.1852G>C (p.Gly618Arg) c.1753G>C (p.Gly585Arg) | |
| 3 | g.165046876C>T | CA355052118 | SI | c.1852G>A (p.Gly618Arg) c.1753G>A (p.Gly585Arg) | COSMIC |
| 3 | g.165046877A= | CA1417400296 | SI | c.1851T= (p.Thr617=) c.1752T= (p.Thr584=) | |
| 3 | g.165046877A>C | CA2690933 | SI | c.1851T>G (p.Thr617=) c.1752T>G (p.Thr584=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.165046877A>G | CA436706651 | SI | c.1851T>C (p.Thr617=) c.1752T>C (p.Thr584=) | |
| 3 | g.165046877A>T | CA436706652 | SI | c.1851T>A (p.Thr617=) c.1752T>A (p.Thr584=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.165046878G>A | CA355052122 | SI | c.1850C>T (p.Thr617Ile) c.1751C>T (p.Thr584Ile) | |
| 3 | g.165046878G>C | CA355052120 | SI | c.1850C>G (p.Thr617Ser) c.1751C>G (p.Thr584Ser) | gnomAD v4 |
| 3 | g.165046878G= | CA1417400301 | SI | c.1850C= (p.Thr617=) c.1751C= (p.Thr584=) | |
| 3 | g.165046878G>T | CA355052121 | SI | c.1850C>A (p.Thr617Asn) c.1751C>A (p.Thr584Asn) | |
| 3 | g.165046878_165046894delinsGTTATAGACCATTCCAT | CA1417400299 | SI | c.1834_1850delinsATGGAATGGTCTATAAC (p.Met612=) c.1735_1751delinsATGGAATGGTCTATAAC (p.Met579=) | |
| 3 | g.165046879T>A | CA355052123 | SI | c.1849A>T (p.Thr617Ser) c.1750A>T (p.Thr584Ser) | |
| 3 | g.165046879T>C | CA355052124 | SI | c.1849A>G (p.Thr617Ala) c.1750A>G (p.Thr584Ala) | |
| 3 | g.165046879T>G | CA355052125 | SI | c.1849A>C (p.Thr617Pro) c.1750A>C (p.Thr584Pro) | COSMIC |
| 3 | g.165046880dup | CA891862829 | SI | c.1849dup (p.Thr617AsnfsTer24) c.1750dup (p.Thr584AsnfsTer24) | ClinVar dbSNP |
| 3 | g.165046881_165046896del | CA86544267 | SI | c.1834_1849del (p.Met612LeufsTer?) c.1735_1750del (p.Met579LeufsTer?) | dbSNP |
| 3 | g.165046880T>A | CA436706653 | SI | c.1848A>T (p.Ile616=) c.1749A>T (p.Ile583=) | dbSNP |
| 3 | g.165046880T>C | CA355052126 | SI | c.1848A>G (p.Ile616Met) c.1749A>G (p.Ile583Met) | |
| 3 | g.165046880T>G | CA436706654 | SI | c.1848A>C (p.Ile616=) c.1749A>C (p.Ile583=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.165046880T= | CA1417400310 | SI | c.1848A= (p.Ile616=) c.1749A= (p.Ile583=) | |
| 3 | g.165046881A= | CA1417400314 | SI | c.1847T= (p.Ile616=) c.1748T= (p.Ile583=) | |
| 3 | g.165046881A>C | CA355052127 | SI | c.1847T>G (p.Ile616Arg) c.1748T>G (p.Ile583Arg) | |
| 3 | g.165046881A>G | CA355052128 | SI | c.1847T>C (p.Ile616Thr) c.1748T>C (p.Ile583Thr) | |
| 3 | g.165046881A>T | CA355052129 | SI | c.1847T>A (p.Ile616Lys) c.1748T>A (p.Ile583Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.165046882T>A | CA355052130 | SI | c.1846A>T (p.Ile616Leu) c.1747A>T (p.Ile583Leu) | |
| 3 | g.165046882T>C | CA355052131 | SI | c.1846A>G (p.Ile616Val) c.1747A>G (p.Ile583Val) | ClinVar gnomAD v4 |
| 3 | g.165046882T>G | CA355052132 | SI | c.1846A>C (p.Ile616Leu) c.1747A>C (p.Ile583Leu) | |
| 3 | g.165046883A>C | CA436706656 | SI | c.1845T>G (p.Ser615=) c.1746T>G (p.Ser582=) | |
| 3 | g.165046883A>G | CA436706655 | SI | c.1845T>C (p.Ser615=) c.1746T>C (p.Ser582=) | |
| 3 | g.165046883A>T | CA436706657 | SI | c.1845T>A (p.Ser615=) c.1746T>A (p.Ser582=) | |
| 3 | g.165046884G>A | CA355052135 | SI | c.1844C>T (p.Ser615Phe) c.1745C>T (p.Ser582Phe) | |
| 3 | g.165046884G>C | CA355052133 | SI | c.1844C>G (p.Ser615Cys) c.1745C>G (p.Ser582Cys) | |
| 3 | g.165046884G>T | CA355052134 | SI | c.1844C>A (p.Ser615Tyr) c.1745C>A (p.Ser582Tyr) | |
| 3 | g.165046885A>C | CA355052136 | SI | c.1843T>G (p.Ser615Ala) c.1744T>G (p.Ser582Ala) | |
| 3 | g.165046885A>G | CA355052137 | SI | c.1843T>C (p.Ser615Pro) c.1744T>C (p.Ser582Pro) | gnomAD v4 |
| 3 | g.165046885A>T | CA355052138 | SI | c.1843T>A (p.Ser615Thr) c.1744T>A (p.Ser582Thr) | |
| 3 | g.165046886C>A | CA355052139 | SI | c.1842G>T (p.Trp614Cys) c.1743G>T (p.Trp581Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.165046886C= | CA1417400317 | SI | c.1842G= (p.Trp614=) c.1743G= (p.Trp581=) | |
| 3 | g.165046886C>G | CA355052140 | SI | c.1842G>C (p.Trp614Cys) c.1743G>C (p.Trp581Cys) | |
| 3 | g.165046886C>T | CA355052141 | SI | c.1842G>A (p.Trp614Ter) c.1743G>A (p.Trp581Ter) | |
| 3 | g.165046887C>A | CA355052142 | SI | c.1841G>T (p.Trp614Leu) c.1742G>T (p.Trp581Leu) | |
| 3 | g.165046887C>G | CA355052143 | SI | c.1841G>C (p.Trp614Ser) c.1742G>C (p.Trp581Ser) | COSMIC |
| 3 | g.165046887C>T | CA355052144 | SI | c.1841G>A (p.Trp614Ter) c.1742G>A (p.Trp581Ter) | |
| 3 | g.165046888A>C | CA355052145 | SI | c.1840T>G (p.Trp614Gly) c.1741T>G (p.Trp581Gly) | gnomAD v4 |
| 3 | g.165046888A>G | CA355052146 | SI | c.1840T>C (p.Trp614Arg) c.1741T>C (p.Trp581Arg) | gnomAD v4 |
| 3 | g.165046888A>T | CA355052147 | SI | c.1840T>A (p.Trp614Arg) c.1741T>A (p.Trp581Arg) | |
| 3 | g.165046889T>A | CA355052148 | SI | c.1839A>T (p.Glu613Asp) c.1740A>T (p.Glu580Asp) | |
| 3 | g.165046889T>C | CA436706658 | SI | c.1839A>G (p.Glu613=) c.1740A>G (p.Glu580=) | gnomAD v4 |
| 3 | g.165046889T>G | CA355052149 | SI | c.1839A>C (p.Glu613Asp) c.1740A>C (p.Glu580Asp) | |
| 3 | g.165046890T>A | CA355052150 | SI | c.1838A>T (p.Glu613Val) c.1739A>T (p.Glu580Val) | |
| 3 | g.165046890T>C | CA355052151 | SI | c.1838A>G (p.Glu613Gly) c.1739A>G (p.Glu580Gly) | |
| 3 | g.165046890T>G | CA355052152 | SI | c.1838A>C (p.Glu613Ala) c.1739A>C (p.Glu580Ala) | |
| 3 | g.165046891C>A | CA2690934 | SI | c.1837G>T (p.Glu613Ter) c.1738G>T (p.Glu580Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.165046891C= | CA1417400320 | SI | c.1837G= (p.Glu613=) c.1738G= (p.Glu580=) | |
| 3 | g.165046891C>G | CA355052153 | SI | c.1837G>C (p.Glu613Gln) c.1738G>C (p.Glu580Gln) | |
| 3 | g.165046891C>T | CA355052154 | SI | c.1837G>A (p.Glu613Lys) c.1738G>A (p.Glu580Lys) | |
| 3 | g.165046892C>A | CA355052155 | SI | c.1836G>T (p.Met612Ile) c.1737G>T (p.Met579Ile) | ClinVar |
| 3 | g.165046892C= | CA1417400323 | SI | c.1836G= (p.Met612=) c.1737G= (p.Met579=) | |
| 3 | g.165046892C>G | CA355052156 | SI | c.1836G>C (p.Met612Ile) c.1737G>C (p.Met579Ile) | |
| 3 | g.165046892C>T | CA355052157 | SI | c.1836G>A (p.Met612Ile) c.1737G>A (p.Met579Ile) | dbSNP gnomAD v4 COSMIC |
| 3 | g.165046893A>C | CA355052158 | SI | c.1835T>G (p.Met612Arg) c.1736T>G (p.Met579Arg) | |
| 3 | g.165046893A>G | CA355052159 | SI | c.1835T>C (p.Met612Thr) c.1736T>C (p.Met579Thr) | gnomAD v4 |
| 3 | g.165046893A>T | CA355052160 | SI | c.1835T>A (p.Met612Lys) c.1736T>A (p.Met579Lys) | gnomAD v4 |
| 3 | g.165046894T>A | CA355052163 | SI | c.1834A>T (p.Met612Leu) c.1735A>T (p.Met579Leu) | |
| 3 | g.165046894T>C | CA355052162 | SI | c.1834A>G (p.Met612Val) c.1735A>G (p.Met579Val) | |
| 3 | g.165046894T>G | CA355052161 | SI | c.1834A>C (p.Met612Leu) c.1735A>C (p.Met579Leu) | |
| 3 | g.165046895T>A | CA355052164 | SI | c.1833A>T (p.Gln611His) c.1734A>T (p.Gln578His) | |
| 3 | g.165046895T>C | CA436706659 | SI | c.1833A>G (p.Gln611=) c.1734A>G (p.Gln578=) | COSMIC |
| 3 | g.165046895T>G | CA86544270 | SI | c.1833A>C (p.Gln611His) c.1734A>C (p.Gln578His) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.165046895T= | CA1417400326 | SI | c.1833A= (p.Gln611=) c.1734A= (p.Gln578=) | |
| 3 | g.165046896T>A | CA355052165 | SI | c.1832A>T (p.Gln611Leu) c.1733A>T (p.Gln578Leu) | |
| 3 | g.165046896T>C | CA355052166 | SI | c.1832A>G (p.Gln611Arg) c.1733A>G (p.Gln578Arg) | gnomAD v4 |
| 3 | g.165046896T>G | CA355052167 | SI | c.1832A>C (p.Gln611Pro) c.1733A>C (p.Gln578Pro) | |
| 3 | g.165046897G>A | CA355052168 | SI | c.1831C>T (p.Gln611Ter) c.1732C>T (p.Gln578Ter) | |
| 3 | g.165046897G>C | CA355052169 | SI | c.1831C>G (p.Gln611Glu) c.1732C>G (p.Gln578Glu) | gnomAD v4 |
| 3 | g.165046897G= | CA1417400331 | SI | c.1831C= (p.Gln611=) c.1732C= (p.Gln578=) | |
| 3 | g.165046897G>T | CA86544274 | SI | c.1831C>A (p.Gln611Lys) c.1732C>A (p.Gln578Lys) | dbSNP gnomAD v4 |
| 3 | g.165046898T>A | CA355052170 | SI | c.1830A>T (p.Glu610Asp) c.1731A>T (p.Glu577Asp) | |
| 3 | g.165046898T>C | CA436706660 | SI | c.1830A>G (p.Glu610=) c.1731A>G (p.Glu577=) | gnomAD v4 |
| 3 | g.165046898T>G | CA355052171 | SI | c.1830A>C (p.Glu610Asp) c.1731A>C (p.Glu577Asp) | |
| 3 | g.165046899T>A | CA355052172 | SI | c.1829A>T (p.Glu610Val) c.1730A>T (p.Glu577Val) | |
| 3 | g.165046899T>C | CA355052173 | SI | c.1829A>G (p.Glu610Gly) c.1730A>G (p.Glu577Gly) | |
| 3 | g.165046899T>G | CA355052174 | SI | c.1829A>C (p.Glu610Ala) c.1730A>C (p.Glu577Ala) | |
| 3 | g.165046900C>A | CA355052177 | SI | c.1828G>T (p.Glu610Ter) c.1729G>T (p.Glu577Ter) | |
| 3 | g.165046900C= | CA1417400335 | SI | c.1828G= (p.Glu610=) c.1729G= (p.Glu577=) | |
| 3 | g.165046900C>G | CA355052176 | SI | c.1828G>C (p.Glu610Gln) c.1729G>C (p.Glu577Gln) | |
| 3 | g.165046900C>T | CA355052175 | SI | c.1828G>A (p.Glu610Lys) c.1729G>A (p.Glu577Lys) | ClinVar dbSNP |
| 3 | g.165046901C>A | CA355052179 | SI | c.1827G>T (p.Trp609Cys) c.1728G>T (p.Trp576Cys) | |
| 3 | g.165046901C= | CA1417400338 | SI | c.1827G= (p.Trp609=) c.1728G= (p.Trp576=) | |
| 3 | g.165046901C>G | CA355052178 | SI | c.1827G>C (p.Trp609Cys) c.1728G>C (p.Trp576Cys) | |
| 3 | g.165046901C>T | CA2690935 | SI | c.1827G>A (p.Trp609Ter) c.1728G>A (p.Trp576Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.165046902C>A | CA355052180 | SI | c.1826G>T (p.Trp609Leu) c.1727G>T (p.Trp576Leu) | ClinVar gnomAD v4 |
| 3 | g.165046902C>G | CA355052182 | SI | c.1826G>C (p.Trp609Ser) c.1727G>C (p.Trp576Ser) | |
| 3 | g.165046902C>T | CA355052181 | SI | c.1826G>A (p.Trp609Ter) c.1727G>A (p.Trp576Ter) | COSMIC COSMIC |
| 3 | g.165046903A= | CA1417400343 | SI | c.1825T= (p.Trp609=) c.1726T= (p.Trp576=) | |
| 3 | g.165046903A>C | CA355052183 | SI | c.1825T>G (p.Trp609Gly) c.1726T>G (p.Trp576Gly) | |
| 3 | g.165046903A>G | CA355052184 | SI | c.1825T>C (p.Trp609Arg) c.1726T>C (p.Trp576Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.165046903A>T | CA355052185 | SI | c.1825T>A (p.Trp609Arg) c.1726T>A (p.Trp576Arg) | |
| 3 | g.165046904T>A | CA436706662 | SI | c.1824A>T (p.Ser608=) c.1725A>T (p.Ser575=) | dbSNP gnomAD v4 |
| 3 | g.165046904T>C | CA436706661 | SI | c.1824A>G (p.Ser608=) c.1725A>G (p.Ser575=) | dbSNP |
| 3 | g.165046904T>G | CA2690936 | SI | c.1824A>C (p.Ser608=) c.1725A>C (p.Ser575=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.165046904T= | CA1417400345 | SI | c.1824A= (p.Ser608=) c.1725A= (p.Ser575=) | |
| 3 | g.165046905G>A | CA355052186 | SI | c.1823C>T (p.Ser608Leu) c.1724C>T (p.Ser575Leu) | gnomAD v4 |
| 3 | g.165046905G>C | CA355052187 | SI | c.1823C>G (p.Ser608Ter) c.1724C>G (p.Ser575Ter) | |
| 3 | g.165046905G>T | CA355052188 | SI | c.1823C>A (p.Ser608Ter) c.1724C>A (p.Ser575Ter) | |
| 3 | g.165046906A>C | CA355052189 | SI | c.1822T>G (p.Ser608Ala) c.1723T>G (p.Ser575Ala) | |
| 3 | g.165046906A>G | CA355052190 | SI | c.1822T>C (p.Ser608Pro) c.1723T>C (p.Ser575Pro) | gnomAD v4 |
| 3 | g.165046906A>T | CA355052191 | SI | c.1822T>A (p.Ser608Thr) c.1723T>A (p.Ser575Thr) | |
| 3 | g.165046907A= | CA1417400350 | SI | c.1821T= (p.Ala607=) c.1722T= (p.Ala574=) | |
| 3 | g.165046907A>C | CA436706665 | SI | c.1821T>G (p.Ala607=) c.1722T>G (p.Ala574=) | |
| 3 | g.165046907A>G | CA436706664 | SI | c.1821T>C (p.Ala607=) c.1722T>C (p.Ala574=) | gnomAD v4 |
| 3 | g.165046907A>T | CA436706663 | SI | c.1821T>A (p.Ala607=) c.1722T>A (p.Ala574=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.165046908G>A | CA355052194 | SI | c.1820C>T (p.Ala607Val) c.1721C>T (p.Ala574Val) | gnomAD v4 |
| 3 | g.165046908G>C | CA355052193 | SI | c.1820C>G (p.Ala607Gly) c.1721C>G (p.Ala574Gly) | |
| 3 | g.165046908G>T | CA355052192 | SI | c.1820C>A (p.Ala607Asp) c.1721C>A (p.Ala574Asp) | gnomAD v4 |
| 3 | g.165046909C>A | CA355052195 | SI | c.1819G>T (p.Ala607Ser) c.1720G>T (p.Ala574Ser) | |
| 3 | g.165046909C>G | CA355052196 | SI | c.1819G>C (p.Ala607Pro) c.1720G>C (p.Ala574Pro) | gnomAD v4 |
| 3 | g.165046909C>T | CA355052197 | SI | c.1819G>A (p.Ala607Thr) c.1720G>A (p.Ala574Thr) | gnomAD v4 |
| 3 | g.165046910A>C | CA436706666 | SI | c.1818T>G (p.Thr606=) c.1719T>G (p.Thr573=) | |
| 3 | g.165046910A>G | CA436706668 | SI | c.1818T>C (p.Thr606=) c.1719T>C (p.Thr573=) | |
| 3 | g.165046910A>T | CA436706667 | SI | c.1818T>A (p.Thr606=) c.1719T>A (p.Thr573=) | COSMIC |
| 3 | g.165046911G>A | CA2690937 | SI | c.1817C>T (p.Thr606Ile) c.1718C>T (p.Thr573Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.165046911G>C | CA355052198 | SI | c.1817C>G (p.Thr606Ser) c.1718C>G (p.Thr573Ser) | gnomAD v4 |
| 3 | g.165046911G= | CA1417400353 | SI | c.1817C= (p.Thr606=) c.1718C= (p.Thr573=) | |
| 3 | g.165046911G>T | CA355052199 | SI | c.1817C>A (p.Thr606Asn) c.1718C>A (p.Thr573Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.165046912T>A | CA355052200 | SI | c.1816A>T (p.Thr606Ser) c.1717A>T (p.Thr573Ser) | |
| 3 | g.165046912T>C | CA355052201 | SI | c.1816A>G (p.Thr606Ala) c.1717A>G (p.Thr573Ala) | |
| 3 | g.165046912T>G | CA355052202 | SI | c.1816A>C (p.Thr606Pro) c.1717A>C (p.Thr573Pro) | |
| 3 | g.165046913A>C | CA355052203 | SI | c.1815T>G (p.Asn605Lys) c.1716T>G (p.Asn572Lys) | |
| 3 | g.165046913A>G | CA436706669 | SI | c.1815T>C (p.Asn605=) c.1716T>C (p.Asn572=) | |
| 3 | g.165046913A>T | CA355052204 | SI | c.1815T>A (p.Asn605Lys) c.1716T>A (p.Asn572Lys) | |
| 3 | g.165046914T>A | CA355052206 | SI | c.1814A>T (p.Asn605Ile) c.1715A>T (p.Asn572Ile) | |
| 3 | g.165046914T>C | CA355052207 | SI | c.1814A>G (p.Asn605Ser) c.1715A>G (p.Asn572Ser) | gnomAD v4 |
| 3 | g.165046914T>G | CA355052205 | SI | c.1814A>C (p.Asn605Thr) c.1715A>C (p.Asn572Thr) | |
| 3 | g.165046915T>A | CA355052208 | SI | c.1813A>T (p.Asn605Tyr) c.1714A>T (p.Asn572Tyr) | |
| 3 | g.165046915T>C | CA355052209 | SI | c.1813A>G (p.Asn605Asp) c.1714A>G (p.Asn572Asp) | |
| 3 | g.165046915T>G | CA355052210 | SI | c.1813A>C (p.Asn605His) c.1714A>C (p.Asn572His) | |
| 3 | g.165046916G>A | CA436706670 | SI | c.1812C>T (p.Asp604=) c.1713C>T (p.Asp571=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.165046916G>C | CA355052211 | SI | c.1812C>G (p.Asp604Glu) c.1713C>G (p.Asp571Glu) | |
| 3 | g.165046916G= | CA1417400357 | SI | c.1812C= (p.Asp604=) c.1713C= (p.Asp571=) | |
| 3 | g.165046916G>T | CA355052212 | SI | c.1812C>A (p.Asp604Glu) c.1713C>A (p.Asp571Glu) | gnomAD v4 |
| 3 | g.165046917T>A | CA355052213 | SI | c.1811A>T (p.Asp604Val) c.1712A>T (p.Asp571Val) | |
| 3 | g.165046917T>C | CA355052214 | SI | c.1811A>G (p.Asp604Gly) c.1712A>G (p.Asp571Gly) | gnomAD v4 |
| 3 | g.165046917T>G | CA355052215 | SI | c.1811A>C (p.Asp604Ala) c.1712A>C (p.Asp571Ala) | |
| 3 | g.165046918C>A | CA355052216 | SI | c.1810G>T (p.Asp604Tyr) c.1711G>T (p.Asp571Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.165046918C= | CA1417400359 | SI | c.1810G= (p.Asp604=) c.1711G= (p.Asp571=) | |
| 3 | g.165046918C>G | CA355052217 | SI | c.1810G>C (p.Asp604His) c.1711G>C (p.Asp571His) | |
| 3 | g.165046918C>T | CA355052218 | SI | c.1810G>A (p.Asp604Asn) c.1711G>A (p.Asp571Asn) | COSMIC |
| 3 | g.165046919T>A | CA436706671 | SI | c.1809A>T (p.Gly603=) c.1710A>T (p.Gly570=) | |
| 3 | g.165046919T>C | CA2690938 | SI | c.1809A>G (p.Gly603=) c.1710A>G (p.Gly570=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.165046919T>G | CA436706672 | SI | c.1809A>C (p.Gly603=) c.1710A>C (p.Gly570=) | |
| 3 | g.165046919T= | CA1417400364 | SI | c.1809A= (p.Gly603=) c.1710A= (p.Gly570=) | |
| 3 | g.165046920C>A | CA355052221 | SI | c.1808G>T (p.Gly603Val) c.1709G>T (p.Gly570Val) | |
| 3 | g.165046920C= | CA1417400367 | SI | c.1808G= (p.Gly603=) c.1709G= (p.Gly570=) | |
| 3 | g.165046920C>G | CA355052219 | SI | c.1808G>C (p.Gly603Ala) c.1709G>C (p.Gly570Ala) | dbSNP gnomAD v2 |
| 3 | g.165046920C>T | CA355052220 | SI | c.1808G>A (p.Gly603Glu) c.1709G>A (p.Gly570Glu) | dbSNP |
| 3 | g.165046921C>A | CA355052222 | SI | c.1807G>T (p.Gly603Ter) c.1708G>T (p.Gly570Ter) | |
| 3 | g.165046921C>G | CA355052223 | SI | c.1807G>C (p.Gly603Arg) c.1708G>C (p.Gly570Arg) | |
| 3 | g.165046921C>T | CA355052224 | SI | c.1807G>A (p.Gly603Arg) c.1708G>A (p.Gly570Arg) | COSMIC COSMIC |
| 3 | g.165046922T>A | CA355052225 | SI | c.1806A>T (p.Leu602Phe) c.1707A>T (p.Leu569Phe) | |
| 3 | g.165046922T>C | CA436706673 | SI | c.1806A>G (p.Leu602=) c.1707A>G (p.Leu569=) | gnomAD v4 |
| 3 | g.165046922T>G | CA355052226 | SI | c.1806A>C (p.Leu602Phe) c.1707A>C (p.Leu569Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.165046922T= | CA1417400370 | SI | c.1806A= (p.Leu602=) c.1707A= (p.Leu569=) | |
| 3 | g.165046923A>C | CA355052227 | SI | c.1805T>G (p.Leu602Ter) c.1706T>G (p.Leu569Ter) | |
| 3 | g.165046923A>G | CA355052228 | SI | c.1805T>C (p.Leu602Ser) c.1706T>C (p.Leu569Ser) | |
| 3 | g.165046923A>T | CA355052229 | SI | c.1805T>A (p.Leu602Ter) c.1706T>A (p.Leu569Ter) | |
| 3 | g.165046924A>C | CA355052230 | SI | c.1804T>G (p.Leu602Val) c.1705T>G (p.Leu569Val) | |
| 3 | g.165046924A>G | CA436706674 | SI | c.1804T>C (p.Leu602=) c.1705T>C (p.Leu569=) | gnomAD v4 |
| 3 | g.165046924A>T | CA355052231 | SI | c.1804T>A (p.Leu602Ile) c.1705T>A (p.Leu569Ile) | |
| 3 | g.165046925C>A | CA355052232 | SI | c.1803G>T (p.Trp601Cys) c.1704G>T (p.Trp568Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.165046925C= | CA1417400373 | SI | c.1803G= (p.Trp601=) c.1704G= (p.Trp568=) | |
| 3 | g.165046925C>G | CA355052233 | SI | c.1803G>C (p.Trp601Cys) c.1704G>C (p.Trp568Cys) | |
| 3 | g.165046925C>T | CA355052234 | SI | c.1803G>A (p.Trp601Ter) c.1704G>A (p.Trp568Ter) | gnomAD v4 |
| 3 | g.165046926C>A | CA355052236 | SI | c.1802G>T (p.Trp601Leu) c.1703G>T (p.Trp568Leu) | gnomAD v4 |
| 3 | g.165046926C>G | CA355052237 | SI | c.1802G>C (p.Trp601Ser) c.1703G>C (p.Trp568Ser) | |
| 3 | g.165046926C>T | CA355052235 | SI | c.1802G>A (p.Trp601Ter) c.1703G>A (p.Trp568Ter) | |
| 3 | g.165046927A>C | CA355052238 | SI | c.1801T>G (p.Trp601Gly) c.1702T>G (p.Trp568Gly) | |
| 3 | g.165046927A>G | CA355052239 | SI | c.1801T>C (p.Trp601Arg) c.1702T>C (p.Trp568Arg) | |
| 3 | g.165046927A>T | CA355052240 | SI | c.1801T>A (p.Trp601Arg) c.1702T>A (p.Trp568Arg) | |
| 3 | g.165046928A>C | CA355052241 | SI | c.1800T>G (p.His600Gln) c.1701T>G (p.His567Gln) | |
| 3 | g.165046928A>G | CA436706675 | SI | c.1800T>C (p.His600=) c.1701T>C (p.His567=) | |
| 3 | g.165046928A>T | CA355052242 | SI | c.1800T>A (p.His600Gln) c.1701T>A (p.His567Gln) | |
| 3 | g.165046929T>A | CA2690939 | SI | c.1799A>T (p.His600Leu) c.1700A>T (p.His567Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.165046929T>C | CA2690940 | SI | c.1799A>G (p.His600Arg) c.1700A>G (p.His567Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.165046929T>G | CA355052243 | SI | c.1799A>C (p.His600Pro) c.1700A>C (p.His567Pro) | |
| 3 | g.165046929T= | CA1417400375 | SI | c.1799A= (p.His600=) c.1700A= (p.His567=) | |
| 3 | g.165046930G>A | CA355052244 | SI | c.1798C>T (p.His600Tyr) c.1699C>T (p.His567Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.165046930G>C | CA355052245 | SI | c.1798C>G (p.His600Asp) c.1699C>G (p.His567Asp) | |
| 3 | g.165046930G= | CA1417400378 | SI | c.1798C= (p.His600=) c.1699C= (p.His567=) | |
| 3 | g.165046930G>T | CA355052246 | SI | c.1798C>A (p.His600Asn) c.1699C>A (p.His567Asn) | dbSNP COSMIC |
| 3 | g.165046930_165046931delinsAA | CA2573136717 | SI | c.1797_1798delinsTT (p.His600Tyr) c.1698_1699delinsTT (p.His567Tyr) | ClinVar dbSNP |
| 3 | g.165046931C>A | CA2690941 | SI | c.1797G>T (p.Ala599=) c.1698G>T (p.Ala566=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.165046931C= | CA1417400381 | SI | c.1797G= (p.Ala599=) c.1698G= (p.Ala566=) | |
| 3 | g.165046931C>G | CA436706676 | SI | c.1797G>C (p.Ala599=) c.1698G>C (p.Ala566=) | gnomAD v4 |
| 3 | g.165046931C>T | CA2690942 | SI | c.1797G>A (p.Ala599=) c.1698G>A (p.Ala566=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.165046932G>A | CA2690943 | SI | c.1796C>T (p.Ala599Val) c.1697C>T (p.Ala566Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.165046932G>C | CA355052248 | SI | c.1796C>G (p.Ala599Gly) c.1697C>G (p.Ala566Gly) | |
| 3 | g.165046932G= | CA1417400386 | SI | c.1796C= (p.Ala599=) c.1697C= (p.Ala566=) | |
| 3 | g.165046932G>T | CA355052247 | SI | c.1796C>A (p.Ala599Glu) c.1697C>A (p.Ala566Glu) | gnomAD v4 |
| 3 | g.165046933C>A | CA355052249 | SI | c.1795G>T (p.Ala599Ser) c.1696G>T (p.Ala566Ser) | gnomAD v4 |
| 3 | g.165046933C>G | CA355052250 | SI | c.1795G>C (p.Ala599Pro) c.1696G>C (p.Ala566Pro) | |
| 3 | g.165046933C>T | CA355052251 | SI | c.1795G>A (p.Ala599Thr) c.1696G>A (p.Ala566Thr) | gnomAD v4 |
| 3 | g.165046934A>C | CA436706677 | SI | c.1794T>G (p.Ala598=) c.1695T>G (p.Ala565=) | |
| 3 | g.165046934A>G | CA436706678 | SI | c.1794T>C (p.Ala598=) c.1695T>C (p.Ala565=) | |
| 3 | g.165046934A>T | CA436706679 | SI | c.1794T>A (p.Ala598=) c.1695T>A (p.Ala565=) | |
| 3 | g.165046935G>A | CA355052252 | SI | c.1793C>T (p.Ala598Val) c.1694C>T (p.Ala565Val) | dbSNP COSMIC COSMIC |
| 3 | g.165046935G>C | CA355052253 | SI | c.1793C>G (p.Ala598Gly) c.1694C>G (p.Ala565Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.165046935G= | CA1417400392 | SI | c.1793C= (p.Ala598=) c.1694C= (p.Ala565=) | |
| 3 | g.165046935G>T | CA355052254 | SI | c.1793C>A (p.Ala598Asp) c.1694C>A (p.Ala565Asp) | |
| 3 | g.165046936C>A | CA2690944 | SI | c.1792G>T (p.Ala598Ser) c.1693G>T (p.Ala565Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.165046936C= | CA1417400396 | SI | c.1792G= (p.Ala598=) c.1693G= (p.Ala565=) | |
| 3 | g.165046936C>G | CA355052255 | SI | c.1792G>C (p.Ala598Pro) c.1693G>C (p.Ala565Pro) | dbSNP |
| 3 | g.165046936C>T | CA355052256 | SI | c.1792G>A (p.Ala598Thr) c.1693G>A (p.Ala565Thr) | |
| 3 | g.165046937A= | CA1417400400 | SI | c.1791T= (p.His597=) c.1692T= (p.His564=) | |
| 3 | g.165046937A>C | CA2690945 | SI | c.1791T>G (p.His597Gln) c.1692T>G (p.His564Gln) | dbSNP ExAC gnomAD v2 |
| 3 | g.165046937A>G | CA436706680 | SI | c.1791T>C (p.His597=) c.1692T>C (p.His564=) | gnomAD v4 |
| 3 | g.165046937A>T | CA355052257 | SI | c.1791T>A (p.His597Gln) c.1692T>A (p.His564Gln) | |
| 3 | g.165046938T>A | CA355052258 | SI | c.1790A>T (p.His597Leu) c.1691A>T (p.His564Leu) | gnomAD v4 |
| 3 | g.165046938T>C | CA355052259 | SI | c.1790A>G (p.His597Arg) c.1691A>G (p.His564Arg) | dbSNP |
| 3 | g.165046938T>G | CA355052260 | SI | c.1790A>C (p.His597Pro) c.1691A>C (p.His564Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.165046938T= | CA1417400401 | SI | c.1790A= (p.His597=) c.1691A= (p.His564=) | |
| 3 | g.165046939del | CA2668421745 | SI | c.1789del (p.His597MetfsTer6) c.1690del (p.His564MetfsTer6) | gnomAD v4 |
| 3 | g.165046939G>A | CA355052262 | SI | c.1789C>T (p.His597Tyr) c.1690C>T (p.His564Tyr) | dbSNP gnomAD v4 |
| 3 | g.165046939G>C | CA355052263 | SI | c.1789C>G (p.His597Asp) c.1690C>G (p.His564Asp) | |
| 3 | g.165046939G= | CA1417400402 | SI | c.1789C= (p.His597=) c.1690C= (p.His564=) | |
| 3 | g.165046939G>T | CA355052261 | SI | c.1789C>A (p.His597Asn) c.1690C>A (p.His564Asn) | |
| 3 | g.165046940del | CA2668421746 | SI | c.1788del (p.Arg596SerfsTer7) c.1689del (p.Arg563SerfsTer7) | gnomAD v4 |
| 3 | g.165046940T>A | CA2690946 | SI | c.1788A>T (p.Arg596Ser) c.1689A>T (p.Arg563Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.165046940T>C | CA436706681 | SI | c.1788A>G (p.Arg596=) c.1689A>G (p.Arg563=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.165046940T>G | CA355052264 | SI | c.1788A>C (p.Arg596Ser) c.1689A>C (p.Arg563Ser) | |
| 3 | g.165046940T= | CA1417400403 | SI | c.1788A= (p.Arg596=) c.1689A= (p.Arg563=) | |
| 3 | g.165046941C>A | CA355052265 | SI | c.1787G>T (p.Arg596Ile) c.1688G>T (p.Arg563Ile) | |
| 3 | g.165046941C>G | CA355052266 | SI | c.1787G>C (p.Arg596Thr) c.1688G>C (p.Arg563Thr) | |
| 3 | g.165046941C>T | CA355052267 | SI | c.1787G>A (p.Arg596Lys) c.1688G>A (p.Arg563Lys) | |
| 3 | g.165046942T>A | CA355052268 | SI | c.1786A>T (p.Arg596Ter) c.1687A>T (p.Arg563Ter) | |
| 3 | g.165046942T>C | CA355052269 | SI | c.1786A>G (p.Arg596Gly) c.1687A>G (p.Arg563Gly) | |
| 3 | g.165046942T>G | CA436706682 | SI | c.1786A>C (p.Arg596=) c.1687A>C (p.Arg563=) | |
| 3 | g.165046943T>A | CA436706683 | SI | c.1785A>T (p.Gly595=) c.1686A>T (p.Gly562=) | |
| 3 | g.165046943T>C | CA436706684 | SI | c.1785A>G (p.Gly595=) c.1686A>G (p.Gly562=) | |
| 3 | g.165046943T>G | CA436706685 | SI | c.1785A>C (p.Gly595=) c.1686A>C (p.Gly562=) | ClinVar gnomAD v4 |
| 3 | g.165046944C>A | CA355052270 | SI | c.1784G>T (p.Gly595Val) c.1685G>T (p.Gly562Val) | |
| 3 | g.165046944C>G | CA355052271 | SI | c.1784G>C (p.Gly595Ala) c.1685G>C (p.Gly562Ala) | |
| 3 | g.165046944C>T | CA355052272 | SI | c.1784G>A (p.Gly595Glu) c.1685G>A (p.Gly562Glu) | ClinVar gnomAD v4 |
| 3 | g.165046944_165046945delinsAA | CA645532318 | SI | c.1783_1784delinsTT (p.Gly595Leu) c.1684_1685delinsTT (p.Gly562Leu) | COSMIC |
| 3 | g.165046945C>A | CA355052273 | SI | c.1783G>T (p.Gly595Ter) c.1684G>T (p.Gly562Ter) | |
| 3 | g.165046945C>G | CA355052274 | SI | c.1783G>C (p.Gly595Arg) c.1684G>C (p.Gly562Arg) | |
| 3 | g.165046945C>T | CA355052275 | SI | c.1783G>A (p.Gly595Arg) c.1684G>A (p.Gly562Arg) | COSMIC COSMIC |
| 3 | g.165046946A>C | CA436706688 | SI | c.1782T>G (p.Ser594=) c.1683T>G (p.Ser561=) | |
| 3 | g.165046946A>G | CA436706687 | SI | c.1782T>C (p.Ser594=) c.1683T>C (p.Ser561=) | |
| 3 | g.165046946A>T | CA436706686 | SI | c.1782T>A (p.Ser594=) c.1683T>A (p.Ser561=) | |
| 3 | g.165046947G>A | CA355052278 | SI | c.1781C>T (p.Ser594Phe) c.1682C>T (p.Ser561Phe) | |
| 3 | g.165046947G>C | CA355052276 | SI | c.1781C>G (p.Ser594Cys) c.1682C>G (p.Ser561Cys) | gnomAD v4 |
| 3 | g.165046947G>T | CA355052277 | SI | c.1781C>A (p.Ser594Tyr) c.1682C>A (p.Ser561Tyr) | COSMIC COSMIC |
| 3 | g.165046948A= | CA1417400404 | SI | c.1780T= (p.Ser594=) c.1681T= (p.Ser561=) | |
| 3 | g.165046948A>C | CA355052279 | SI | c.1780T>G (p.Ser594Ala) c.1681T>G (p.Ser561Ala) | |
| 3 | g.165046948A>G | CA2690947 | SI | c.1780T>C (p.Ser594Pro) c.1681T>C (p.Ser561Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.165046948A>T | CA355052280 | SI | c.1780T>A (p.Ser594Thr) c.1681T>A (p.Ser561Thr) | |
| 3 | g.165046949T>A | CA436706691 | SI | c.1779A>T (p.Gly593=) c.1680A>T (p.Gly560=) | |
| 3 | g.165046949T>C | CA436706690 | SI | c.1779A>G (p.Gly593=) c.1680A>G (p.Gly560=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.165046949T>G | CA436706689 | SI | c.1779A>C (p.Gly593=) c.1680A>C (p.Gly560=) | |
| 3 | g.165046949T= | CA1417400405 | SI | c.1779A= (p.Gly593=) c.1680A= (p.Gly560=) | |
| 3 | g.165046950C>A | CA355052281 | SI | c.1778G>T (p.Gly593Val) c.1679G>T (p.Gly560Val) | |
| 3 | g.165046950C= | CA1417400406 | SI | c.1778G= (p.Gly593=) c.1679G= (p.Gly560=) | |
| 3 | g.165046950C>G | CA355052282 | SI | c.1778G>C (p.Gly593Ala) c.1679G>C (p.Gly560Ala) | |
| 3 | g.165046950C>T | CA86544345 | SI | c.1778G>A (p.Gly593Glu) c.1679G>A (p.Gly560Glu) | dbSNP gnomAD v4 |
| 3 | g.165046951C>A | CA355052283 | SI | c.1777G>T (p.Gly593Ter) c.1678G>T (p.Gly560Ter) | |
| 3 | g.165046951C>G | CA355052284 | SI | c.1777G>C (p.Gly593Arg) c.1678G>C (p.Gly560Arg) | |
| 3 | g.165046951C>T | CA355052285 | SI | c.1777G>A (p.Gly593Arg) c.1678G>A (p.Gly560Arg) | gnomAD v4 |
| 3 | g.165046952A>C | CA436706692 | SI | c.1776T>G (p.Ala592=) c.1677T>G (p.Ala559=) | |
| 3 | g.165046952A>G | CA436706694 | SI | c.1776T>C (p.Ala592=) c.1677T>C (p.Ala559=) | gnomAD v4 |
| 3 | g.165046952A>T | CA436706693 | SI | c.1776T>A (p.Ala592=) c.1677T>A (p.Ala559=) | |
| 3 | g.165046953G>A | CA355052286 | SI | c.1775C>T (p.Ala592Val) c.1676C>T (p.Ala559Val) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.165046953G>C | CA355052287 | SI | c.1775C>G (p.Ala592Gly) c.1676C>G (p.Ala559Gly) | |
| 3 | g.165046953G= | CA1417400407 | SI | c.1775C= (p.Ala592=) c.1676C= (p.Ala559=) | |
| 3 | g.165046953G>T | CA355052288 | SI | c.1775C>A (p.Ala592Asp) c.1676C>A (p.Ala559Asp) | |
| 3 | g.165046954C>A | CA355052290 | SI | c.1774G>T (p.Ala592Ser) c.1675G>T (p.Ala559Ser) | |
| 3 | g.165046954C= | CA1417400408 | SI | c.1774G= (p.Ala592=) c.1675G= (p.Ala559=) | |
| 3 | g.165046954C>G | CA355052291 | SI | c.1774G>C (p.Ala592Pro) c.1675G>C (p.Ala559Pro) | |
| 3 | g.165046954C>T | CA355052289 | SI | c.1774G>A (p.Ala592Thr) c.1675G>A (p.Ala559Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.165046955A>C | CA355052292 | SI | c.1773T>G (p.Phe591Leu) c.1674T>G (p.Phe558Leu) | |
| 3 | g.165046955A>G | CA436706695 | SI | c.1773T>C (p.Phe591=) c.1674T>C (p.Phe558=) | |
| 3 | g.165046955A>T | CA355052293 | SI | c.1773T>A (p.Phe591Leu) c.1674T>A (p.Phe558Leu) | |
| 3 | g.165046956A= | CA1417400409 | SI | c.1772T= (p.Phe591=) c.1673T= (p.Phe558=) | |
| 3 | g.165046956A>C | CA355052294 | SI | c.1772T>G (p.Phe591Cys) c.1673T>G (p.Phe558Cys) | |
| 3 | g.165046956A>G | CA355052296 | SI | c.1772T>C (p.Phe591Ser) c.1673T>C (p.Phe558Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.165046956A>T | CA355052295 | SI | c.1772T>A (p.Phe591Tyr) c.1673T>A (p.Phe558Tyr) | |
| 3 | g.165046957A>C | CA355052297 | SI | c.1771T>G (p.Phe591Val) c.1672T>G (p.Phe558Val) | |
| 3 | g.165046957A>G | CA355052298 | SI | c.1771T>C (p.Phe591Leu) c.1672T>C (p.Phe558Leu) | ClinVar dbSNP |
| 3 | g.165046957A>T | CA355052299 | SI | c.1771T>A (p.Phe591Ile) c.1672T>A (p.Phe558Ile) | |
| 3 | g.165046958T>A | CA436706696 | SI | c.1770A>T (p.Thr590=) c.1671A>T (p.Thr557=) | gnomAD v4 |
| 3 | g.165046958T>C | CA436706697 | SI | c.1770A>G (p.Thr590=) c.1671A>G (p.Thr557=) | |
| 3 | g.165046958T>G | CA436706698 | SI | c.1770A>C (p.Thr590=) c.1671A>C (p.Thr557=) | |
| 3 | g.165046959G>A | CA355052300 | SI | c.1769C>T (p.Thr590Ile) c.1670C>T (p.Thr557Ile) | dbSNP |
| 3 | g.165046959G>C | CA355052301 | SI | c.1769C>G (p.Thr590Arg) c.1670C>G (p.Thr557Arg) | |
| 3 | g.165046959G= | CA1417400410 | SI | c.1769C= (p.Thr590=) c.1670C= (p.Thr557=) | |
| 3 | g.165046959G>T | CA355052302 | SI | c.1769C>A (p.Thr590Lys) c.1670C>A (p.Thr557Lys) | gnomAD v4 |
| 3 | g.165046960T>A | CA355052303 | SI | c.1768A>T (p.Thr590Ser) c.1669A>T (p.Thr557Ser) | |
| 3 | g.165046960T>C | CA355052304 | SI | c.1768A>G (p.Thr590Ala) c.1669A>G (p.Thr557Ala) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.165046960T>G | CA355052305 | SI | c.1768A>C (p.Thr590Pro) c.1669A>C (p.Thr557Pro) | |
| 3 | g.165046960T= | CA1417400411 | SI | c.1768A= (p.Thr590=) c.1669A= (p.Thr557=) | |
| 3 | g.165046961T>A | CA436706699 | SI | c.1767A>T (p.Ser589=) c.1668A>T (p.Ser556=) | |
| 3 | g.165046961T>C | CA436706700 | SI | c.1767A>G (p.Ser589=) c.1668A>G (p.Ser556=) | dbSNP |
| 3 | g.165046961T>G | CA436706701 | SI | c.1767A>C (p.Ser589=) c.1668A>C (p.Ser556=) | |
| 3 | g.165046961T= | CA1417400412 | SI | c.1767A= (p.Ser589=) c.1668A= (p.Ser556=) | |
| 3 | g.165046962G>A | CA86544349 | SI | c.1766C>T (p.Ser589Leu) c.1667C>T (p.Ser556Leu) | dbSNP gnomAD v4 |
| 3 | g.165046962G>C | CA355052307 | SI | c.1766C>G (p.Ser589Ter) c.1667C>G (p.Ser556Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.165046962G= | CA1417400413 | SI | c.1766C= (p.Ser589=) c.1667C= (p.Ser556=) | |
| 3 | g.165046962G>T | CA355052308 | SI | c.1766C>A (p.Ser589Ter) c.1667C>A (p.Ser556Ter) | |
| 3 | g.165046963A>C | CA355052314 | SI | c.1765T>G (p.Ser589Ala) c.1666T>G (p.Ser556Ala) | |
| 3 | g.165046963A>G | CA355052312 | SI | c.1765T>C (p.Ser589Pro) c.1666T>C (p.Ser556Pro) | gnomAD v3 gnomAD v4 |
| 3 | g.165046963A>T | CA355052310 | SI | c.1765T>A (p.Ser589Thr) c.1666T>A (p.Ser556Thr) | |
| 3 | g.165046964G>A | CA436706702 | SI | c.1764C>T (p.Arg588=) c.1665C>T (p.Arg555=) | dbSNP gnomAD v4 |
| 3 | g.165046964G>C | CA436706703 | SI | c.1764C>G (p.Arg588=) c.1665C>G (p.Arg555=) | |
| 3 | g.165046964G= | CA1417400414 | SI | c.1764C= (p.Arg588=) c.1665C= (p.Arg555=) | |
| 3 | g.165046964G>T | CA436706704 | SI | c.1764C>A (p.Arg588=) c.1665C>A (p.Arg555=) | gnomAD v4 |
| 3 | g.165046965C>A | CA355052316 | SI | c.1763G>T (p.Arg588Leu) c.1664G>T (p.Arg555Leu) | gnomAD v4 |
| 3 | g.165046965C= | CA1417400415 | SI | c.1763G= (p.Arg588=) c.1664G= (p.Arg555=) | |
| 3 | g.165046965C>G | CA355052318 | SI | c.1763G>C (p.Arg588Pro) c.1664G>C (p.Arg555Pro) | |
| 3 | g.165046965C>T | CA2690948 | SI | c.1763G>A (p.Arg588His) c.1664G>A (p.Arg555His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.165046966G>A | CA86544354 | SI | c.1762C>T (p.Arg588Cys) c.1663C>T (p.Arg555Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.165046966G>C | CA355052321 | SI | c.1762C>G (p.Arg588Gly) c.1663C>G (p.Arg555Gly) | |
| 3 | g.165046966G= | CA1417400416 | SI | c.1762C= (p.Arg588=) c.1663C= (p.Arg555=) | |
| 3 | g.165046966G>T | CA355052323 | SI | c.1762C>A (p.Arg588Ser) c.1663C>A (p.Arg555Ser) | gnomAD v4 |
| 3 | g.165046967G>A | CA2690949 | SI | c.1761C>T (p.Thr587=) c.1662C>T (p.Thr554=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.165046967G>C | CA436706706 | SI | c.1761C>G (p.Thr587=) c.1662C>G (p.Thr554=) | |
| 3 | g.165046967G= | CA1417400417 | SI | c.1761C= (p.Thr587=) c.1662C= (p.Thr554=) | |
| 3 | g.165046967G>T | CA436706705 | SI | c.1761C>A (p.Thr587=) c.1662C>A (p.Thr554=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.165046968G>A | CA355052326 | SI | c.1760C>T (p.Thr587Ile) c.1661C>T (p.Thr554Ile) | |
| 3 | g.165046968G>C | CA355052328 | SI | c.1760C>G (p.Thr587Ser) c.1661C>G (p.Thr554Ser) | ClinVar dbSNP |
| 3 | g.165046968G>T | CA355052330 | SI | c.1760C>A (p.Thr587Asn) c.1661C>A (p.Thr554Asn) | |
| 3 | g.165046969T>A | CA355052331 | SI | c.1759A>T (p.Thr587Ser) c.1660A>T (p.Thr554Ser) | |
| 3 | g.165046969T>C | CA355052332 | SI | c.1759A>G (p.Thr587Ala) c.1660A>G (p.Thr554Ala) | |
| 3 | g.165046969T>G | CA355052334 | SI | c.1759A>C (p.Thr587Pro) c.1660A>C (p.Thr554Pro) | |
| 3 | g.165046970A>C | CA436706709 | SI | c.1758T>G (p.Leu586=) c.1659T>G (p.Leu553=) | |
| 3 | g.165046970A>G | CA436706707 | SI | c.1758T>C (p.Leu586=) c.1659T>C (p.Leu553=) | |
| 3 | g.165046970A>T | CA436706708 | SI | c.1758T>A (p.Leu586=) c.1659T>A (p.Leu553=) | |
| 3 | g.165046971A>C | CA355052337 | SI | c.1757T>G (p.Leu586Arg) c.1658T>G (p.Leu553Arg) | |
| 3 | g.165046971A>G | CA355052340 | SI | c.1757T>C (p.Leu586Pro) c.1658T>C (p.Leu553Pro) | gnomAD v4 |
| 3 | g.165046971A>T | CA355052336 | SI | c.1757T>A (p.Leu586His) c.1658T>A (p.Leu553His) |