Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31070748T>A | CA402112357 | DSC2 | c.1799A>T (p.Glu600Val) c.2228A>T (p.Glu743Val) | |
18 | g.31070748T>C | CA402112359 | DSC2 | c.1799A>G (p.Glu600Gly) c.2228A>G (p.Glu743Gly) | |
18 | g.31070748T>G | CA402112360 | DSC2 | c.1799A>C (p.Glu600Ala) c.2228A>C (p.Glu743Ala) | |
18 | g.31070749C>A | CA402112362 | DSC2 | c.1798G>T (p.Glu600Ter) c.2227G>T (p.Glu743Ter) | |
18 | g.31070749C>G | CA402112364 | DSC2 | c.1798G>C (p.Glu600Gln) c.2227G>C (p.Glu743Gln) | |
18 | g.31070749C>T | CA402112366 | DSC2 | c.1798G>A (p.Glu600Lys) c.2227G>A (p.Glu743Lys) | |
18 | g.31070750T>A | CA503384716 | DSC2 | c.1797A>T (p.Thr599=) c.2226A>T (p.Thr742=) | |
18 | g.31070750T>C | CA035480 | DSC2 | c.1797A>G (p.Thr599=) c.2226A>G (p.Thr742=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070750T>G | CA503384717 | DSC2 | c.1797A>C (p.Thr599=) c.2226A>C (p.Thr742=) | |
18 | g.31070750T= | CA2293646653 | DSC2 | c.1797A= (p.Thr599=) c.2226A= (p.Thr742=) | |
18 | g.31070751G>A | CA402112371 | DSC2 | c.1796C>T (p.Thr599Ile) c.2225C>T (p.Thr742Ile) | |
18 | g.31070751G>C | CA402112372 | DSC2 | c.1796C>G (p.Thr599Arg) c.2225C>G (p.Thr742Arg) | |
18 | g.31070751G>T | CA402112369 | DSC2 | c.1796C>A (p.Thr599Lys) c.2225C>A (p.Thr742Lys) | |
18 | g.31070752T>A | CA402112373 | DSC2 | c.1795A>T (p.Thr599Ser) c.2224A>T (p.Thr742Ser) | |
18 | g.31070752T>C | CA402112375 | DSC2 | c.1795A>G (p.Thr599Ala) c.2224A>G (p.Thr742Ala) | |
18 | g.31070752T>G | CA402112377 | DSC2 | c.1795A>C (p.Thr599Pro) c.2224A>C (p.Thr742Pro) | |
18 | g.31070753G>A | CA503384718 | DSC2 | c.1794C>T (p.Asn598=) c.2223C>T (p.Asn741=) | |
18 | g.31070753G>C | CA402112379 | DSC2 | c.1794C>G (p.Asn598Lys) c.2223C>G (p.Asn741Lys) | |
18 | g.31070753G>T | CA402112380 | DSC2 | c.1794C>A (p.Asn598Lys) c.2223C>A (p.Asn741Lys) | |
18 | g.31070754T>A | CA402112383 | DSC2 | c.1793A>T (p.Asn598Ile) c.2222A>T (p.Asn741Ile) | |
18 | g.31070754T>C | CA402112385 | DSC2 | c.1793A>G (p.Asn598Ser) c.2222A>G (p.Asn741Ser) | |
18 | g.31070754T>G | CA402112386 | DSC2 | c.1793A>C (p.Asn598Thr) c.2222A>C (p.Asn741Thr) | |
18 | g.31070755T>A | CA402112388 | DSC2 | c.1792A>T (p.Asn598Tyr) c.2221A>T (p.Asn741Tyr) | |
18 | g.31070755T>C | CA402112390 | DSC2 | c.1792A>G (p.Asn598Asp) c.2221A>G (p.Asn741Asp) | |
18 | g.31070755T>G | CA402112392 | DSC2 | c.1792A>C (p.Asn598His) c.2221A>C (p.Asn741His) | |
18 | g.31070756T>A | CA035469 | DSC2 | c.1791A>T (p.Ser597=) c.2220A>T (p.Ser740=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31070756T>C | CA503384719 | DSC2 | c.1791A>G (p.Ser597=) c.2220A>G (p.Ser740=) | |
18 | g.31070756T>G | CA503384720 | DSC2 | c.1791A>C (p.Ser597=) c.2220A>C (p.Ser740=) | |
18 | g.31070756T= | CA2293646654 | DSC2 | c.1791A= (p.Ser597=) c.2220A= (p.Ser740=) | |
18 | g.31070757G>A | CA402112396 | DSC2 | c.1790C>T (p.Ser597Leu) c.2219C>T (p.Ser740Leu) | |
18 | g.31070757G>C | CA402112397 | DSC2 | c.1790C>G (p.Ser597Ter) c.2219C>G (p.Ser740Ter) | |
18 | g.31070757G>T | CA402112394 | DSC2 | c.1790C>A (p.Ser597Ter) c.2219C>A (p.Ser740Ter) | dbSNP |
18 | g.31070758A= | CA2293646655 | DSC2 | c.1789T= (p.Ser597=) c.2218T= (p.Ser740=) | |
18 | g.31070758A>C | CA402112399 | DSC2 | c.1789T>G (p.Ser597Ala) c.2218T>G (p.Ser740Ala) | |
18 | g.31070758A>G | CA402112401 | DSC2 | c.1789T>C (p.Ser597Pro) c.2218T>C (p.Ser740Pro) | ClinVar dbSNP |
18 | g.31070758A>T | CA402112403 | DSC2 | c.1789T>A (p.Ser597Thr) c.2218T>A (p.Ser740Thr) | |
18 | g.31070759T>A | CA297687699 | DSC2 | c.1788A>T (p.Val596=) c.2217A>T (p.Val739=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.31070759T>C | CA503384722 | DSC2 | c.1788A>G (p.Val596=) c.2217A>G (p.Val739=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.31070759T>G | CA503384721 | DSC2 | c.1788A>C (p.Val596=) c.2217A>C (p.Val739=) | |
18 | g.31070759T= | CA2293646656 | DSC2 | c.1788A= (p.Val596=) c.2217A= (p.Val739=) | |
18 | g.31070760A= | CA2293646657 | DSC2 | c.1787T= (p.Val596=) c.2216T= (p.Val739=) | |
18 | g.31070760A>C | CA402112405 | DSC2 | c.1787T>G (p.Val596Gly) c.2216T>G (p.Val739Gly) | |
18 | g.31070760A>G | CA035451 | DSC2 | c.1787T>C (p.Val596Ala) c.2216T>C (p.Val739Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31070760A>T | CA402112407 | DSC2 | c.1787T>A (p.Val596Glu) c.2216T>A (p.Val739Glu) | |
18 | g.31070761C>A | CA402112410 | DSC2 | c.1786G>T (p.Val596Leu) c.2215G>T (p.Val739Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.31070761C= | CA2293646658 | DSC2 | c.1786G= (p.Val596=) c.2215G= (p.Val739=) | |
18 | g.31070761C>G | CA402112411 | DSC2 | c.1786G>C (p.Val596Leu) c.2215G>C (p.Val739Leu) | gnomAD v4 |
18 | g.31070761C>T | CA035439 | DSC2 | c.1786G>A (p.Val596Ile) c.2215G>A (p.Val739Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31070762A>C | CA402112412 | DSC2 | c.1785T>G (p.Ile595Met) c.2214T>G (p.Ile738Met) | |
18 | g.31070762A>G | CA503384723 | DSC2 | c.1785T>C (p.Ile595=) c.2214T>C (p.Ile738=) | gnomAD v4 |
18 | g.31070762A>T | CA503384724 | DSC2 | c.1785T>A (p.Ile595=) c.2214T>A (p.Ile738=) | |
18 | g.31070763A>C | CA402112413 | DSC2 | c.1784T>G (p.Ile595Ser) c.2213T>G (p.Ile738Ser) | |
18 | g.31070763A>G | CA402112414 | DSC2 | c.1784T>C (p.Ile595Thr) c.2213T>C (p.Ile738Thr) | |
18 | g.31070763A>T | CA402112415 | DSC2 | c.1784T>A (p.Ile595Asn) c.2213T>A (p.Ile738Asn) | |
18 | g.31070764T>A | CA402112418 | DSC2 | c.1783A>T (p.Ile595Phe) c.2212A>T (p.Ile738Phe) | |
18 | g.31070764T>C | CA402112417 | DSC2 | c.1783A>G (p.Ile595Val) c.2212A>G (p.Ile738Val) | gnomAD v4 |
18 | g.31070764T>G | CA402112416 | DSC2 | c.1783A>C (p.Ile595Leu) c.2212A>C (p.Ile738Leu) | |
18 | g.31070765T>A | CA503384725 | DSC2 | c.1782A>T (p.Leu594=) c.2211A>T (p.Leu737=) | |
18 | g.31070765T>C | CA503384726 | DSC2 | c.1782A>G (p.Leu594=) c.2211A>G (p.Leu737=) | |
18 | g.31070765T>G | CA503384727 | DSC2 | c.1782A>C (p.Leu594=) c.2211A>C (p.Leu737=) | |
18 | g.31070766A>C | CA402112419 | DSC2 | c.1781T>G (p.Leu594Arg) c.2210T>G (p.Leu737Arg) | |
18 | g.31070766A>G | CA402112421 | DSC2 | c.1781T>C (p.Leu594Pro) c.2210T>C (p.Leu737Pro) | |
18 | g.31070766A>T | CA402112420 | DSC2 | c.1781T>A (p.Leu594Gln) c.2210T>A (p.Leu737Gln) | |
18 | g.31070767G>A | CA503384728 | DSC2 | c.1780C>T (p.Leu594=) c.2209C>T (p.Leu737=) | gnomAD v4 |
18 | g.31070767G>C | CA402112422 | DSC2 | c.1780C>G (p.Leu594Val) c.2209C>G (p.Leu737Val) | |
18 | g.31070767G>T | CA402112423 | DSC2 | c.1780C>A (p.Leu594Ile) c.2209C>A (p.Leu737Ile) | |
18 | g.31070768G>A | CA022634 | DSC2 | c.1779C>T (p.Asn593=) c.2208C>T (p.Asn736=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070768G>C | CA402112424 | DSC2 | c.1779C>G (p.Asn593Lys) c.2208C>G (p.Asn736Lys) | |
18 | g.31070768G= | CA2293646659 | DSC2 | c.1779C= (p.Asn593=) c.2208C= (p.Asn736=) | |
18 | g.31070768G>T | CA402112425 | DSC2 | c.1779C>A (p.Asn593Lys) c.2208C>A (p.Asn736Lys) | |
18 | g.31070769T>A | CA402112426 | DSC2 | c.1778A>T (p.Asn593Ile) c.2207A>T (p.Asn736Ile) | |
18 | g.31070769T>C | CA402112427 | DSC2 | c.1778A>G (p.Asn593Ser) c.2207A>G (p.Asn736Ser) | |
18 | g.31070769T>G | CA402112428 | DSC2 | c.1778A>C (p.Asn593Thr) c.2207A>C (p.Asn736Thr) | |
18 | g.31070770T>A | CA402112429 | DSC2 | c.1777A>T (p.Asn593Tyr) c.2206A>T (p.Asn736Tyr) | |
18 | g.31070770T>C | CA035374 | DSC2 | c.1777A>G (p.Asn593Asp) c.2206A>G (p.Asn736Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070770T>G | CA402112430 | DSC2 | c.1777A>C (p.Asn593His) c.2206A>C (p.Asn736His) | |
18 | g.31070770T= | CA2293646660 | DSC2 | c.1777A= (p.Asn593=) c.2206A= (p.Asn736=) | |
18 | g.31070771C>A | CA10641320 | DSC2 | c.1776G>T (p.Gln592His) c.2205G>T (p.Gln735His) | ClinVar dbSNP |
18 | g.31070771C= | CA2293646661 | DSC2 | c.1776G= (p.Gln592=) c.2205G= (p.Gln735=) | |
18 | g.31070771C>G | CA402112431 | DSC2 | c.1776G>C (p.Gln592His) c.2205G>C (p.Gln735His) | |
18 | g.31070771C>T | CA503384729 | DSC2 | c.1776G>A (p.Gln592=) c.2205G>A (p.Gln735=) | |
18 | g.31070772T>A | CA402112432 | DSC2 | c.1775A>T (p.Gln592Leu) c.2204A>T (p.Gln735Leu) | |
18 | g.31070772T>C | CA402112433 | DSC2 | c.1775A>G (p.Gln592Arg) c.2204A>G (p.Gln735Arg) | |
18 | g.31070772T>G | CA402112434 | DSC2 | c.1775A>C (p.Gln592Pro) c.2204A>C (p.Gln735Pro) | |
18 | g.31070773G>A | CA402112435 | DSC2 | c.1774C>T (p.Gln592Ter) c.2203C>T (p.Gln735Ter) | ClinVar |
18 | g.31070773G>C | CA402112436 | DSC2 | c.1774C>G (p.Gln592Glu) c.2203C>G (p.Gln735Glu) | |
18 | g.31070773G>T | CA402112437 | DSC2 | c.1774C>A (p.Gln592Lys) c.2203C>A (p.Gln735Lys) | gnomAD v4 |
18 | g.31070774C>A | CA402112438 | DSC2 | c.1773G>T (p.Gln591His) c.2202G>T (p.Gln734His) | |
18 | g.31070774C= | CA2293646662 | DSC2 | c.1773G= (p.Gln591=) c.2202G= (p.Gln734=) | |
18 | g.31070774C>G | CA402112439 | DSC2 | c.1773G>C (p.Gln591His) c.2202G>C (p.Gln734His) | |
18 | g.31070774C>T | CA035362 | DSC2 | c.1773G>A (p.Gln591=) c.2202G>A (p.Gln734=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070775T>A | CA402112440 | DSC2 | c.1772A>T (p.Gln591Leu) c.2201A>T (p.Gln734Leu) | |
18 | g.31070775T>C | CA402112441 | DSC2 | c.1772A>G (p.Gln591Arg) c.2201A>G (p.Gln734Arg) | ClinVar |
18 | g.31070775T>G | CA035347 | DSC2 | c.1772A>C (p.Gln591Pro) c.2201A>C (p.Gln734Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31070775T= | CA2293646663 | DSC2 | c.1772A= (p.Gln591=) c.2201A= (p.Gln734=) | |
18 | g.31070776G>A | CA035335 | DSC2 | c.1771C>T (p.Gln591Ter) c.2200C>T (p.Gln734Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31070776G>C | CA402112443 | DSC2 | c.1771C>G (p.Gln591Glu) c.2200C>G (p.Gln734Glu) | |
18 | g.31070776G= | CA2293646664 | DSC2 | c.1771C= (p.Gln591=) c.2200C= (p.Gln734=) | |
18 | g.31070776G>T | CA402112442 | DSC2 | c.1771C>A (p.Gln591Lys) c.2200C>A (p.Gln734Lys) | |
18 | g.31070777G>A | CA503384730 | DSC2 | c.1770C>T (p.Ala590=) c.2199C>T (p.Ala733=) | ClinVar |
18 | g.31070777G>C | CA503384731 | DSC2 | c.1770C>G (p.Ala590=) c.2199C>G (p.Ala733=) | |
18 | g.31070777G>T | CA503384732 | DSC2 | c.1770C>A (p.Ala590=) c.2199C>A (p.Ala733=) | |
18 | g.31070778G>A | CA10641324 | DSC2 | c.1769C>T (p.Ala590Val) c.2198C>T (p.Ala733Val) | ClinVar dbSNP gnomAD v4 |
18 | g.31070778G>C | CA402112444 | DSC2 | c.1769C>G (p.Ala590Gly) c.2198C>G (p.Ala733Gly) | |
18 | g.31070778G= | CA2293646665 | DSC2 | c.1769C= (p.Ala590=) c.2198C= (p.Ala733=) | |
18 | g.31070778G>T | CA402112445 | DSC2 | c.1769C>A (p.Ala590Asp) c.2198C>A (p.Ala733Asp) | |
18 | g.31070779C>A | CA402112446 | DSC2 | c.1768G>T (p.Ala590Ser) c.2197G>T (p.Ala733Ser) | |
18 | g.31070779C= | CA2293646666 | DSC2 | c.1768G= (p.Ala590=) c.2197G= (p.Ala733=) | |
18 | g.31070779C>G | CA402112447 | DSC2 | c.1768G>C (p.Ala590Pro) c.2197G>C (p.Ala733Pro) | |
18 | g.31070779C>T | CA022628 | DSC2 | c.1768G>A (p.Ala590Thr) c.2197G>A (p.Ala733Thr) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
18 | g.31070779dup | CA2641388083 | DSC2 | c.1768dup (p.Ala590GlyfsTer16) c.2197dup (p.Ala733GlyfsTer16) | gnomAD v4 |
18 | g.31070780T>A | CA402112448 | DSC2 | c.1767A>T (p.Leu589Phe) c.2196A>T (p.Leu732Phe) | |
18 | g.31070780T>C | CA503384733 | DSC2 | c.1767A>G (p.Leu589=) c.2196A>G (p.Leu732=) | |
18 | g.31070780T>G | CA402112449 | DSC2 | c.1767A>C (p.Leu589Phe) c.2196A>C (p.Leu732Phe) | |
18 | g.31070781A= | CA2293646667 | DSC2 | c.1766T= (p.Leu589=) c.2195T= (p.Leu732=) | |
18 | g.31070781A>C | CA402112450 | DSC2 | c.1766T>G (p.Leu589Ter) c.2195T>G (p.Leu732Ter) | |
18 | g.31070781A>G | CA402112451 | DSC2 | c.1766T>C (p.Leu589Ser) c.2195T>C (p.Leu732Ser) | |
18 | g.31070781A>T | CA402112452 | DSC2 | c.1766T>A (p.Leu589Ter) c.2195T>A (p.Leu732Ter) | dbSNP |
18 | g.31070782A= | CA2293646668 | DSC2 | c.1765T= (p.Leu589=) c.2194T= (p.Leu732=) | |
18 | g.31070782A>C | CA022624 | DSC2 | c.1765T>G (p.Leu589Val) c.2194T>G (p.Leu732Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070782A>G | CA503384734 | DSC2 | c.1765T>C (p.Leu589=) c.2194T>C (p.Leu732=) | ClinVar gnomAD v4 |
18 | g.31070782A>T | CA402112453 | DSC2 | c.1765T>A (p.Leu589Ile) c.2194T>A (p.Leu732Ile) | |
18 | g.31070783A>C | CA402112455 | DSC2 | c.1764T>G (p.Asp588Glu) c.2193T>G (p.Asp731Glu) | |
18 | g.31070783A>G | CA503384735 | DSC2 | c.1764T>C (p.Asp588=) c.2193T>C (p.Asp731=) | |
18 | g.31070783A>T | CA402112454 | DSC2 | c.1764T>A (p.Asp588Glu) c.2193T>A (p.Asp731Glu) | |
18 | g.31070784T>A | CA402112456 | DSC2 | c.1763A>T (p.Asp588Val) c.2192A>T (p.Asp731Val) | |
18 | g.31070784T>C | CA402112457 | DSC2 | c.1763A>G (p.Asp588Gly) c.2192A>G (p.Asp731Gly) | |
18 | g.31070784T>G | CA402112458 | DSC2 | c.1763A>C (p.Asp588Ala) c.2192A>C (p.Asp731Ala) | |
18 | g.31070785C>A | CA402112459 | DSC2 | c.1762G>T (p.Asp588Tyr) c.2191G>T (p.Asp731Tyr) | COSMIC COSMIC |
18 | g.31070785C= | CA2293646669 | DSC2 | c.1762G= (p.Asp588=) c.2191G= (p.Asp731=) | |
18 | g.31070785C>G | CA402112460 | DSC2 | c.1762G>C (p.Asp588His) c.2191G>C (p.Asp731His) | |
18 | g.31070785C>T | CA035290 | DSC2 | c.1762G>A (p.Asp588Asn) c.2191G>A (p.Asp731Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070786A>C | CA402112462 | DSC2 | c.1761T>G (p.Asp587Glu) c.2190T>G (p.Asp730Glu) | |
18 | g.31070786A>G | CA503384736 | DSC2 | c.1761T>C (p.Asp587=) c.2190T>C (p.Asp730=) | |
18 | g.31070786A>T | CA402112461 | DSC2 | c.1761T>A (p.Asp587Glu) c.2190T>A (p.Asp730Glu) | |
18 | g.31070787T>A | CA402112463 | DSC2 | c.1760A>T (p.Asp587Val) c.2189A>T (p.Asp730Val) | ClinVar dbSNP |
18 | g.31070787T>C | CA402112464 | DSC2 | c.1760A>G (p.Asp587Gly) c.2189A>G (p.Asp730Gly) | |
18 | g.31070787T>G | CA402112465 | DSC2 | c.1760A>C (p.Asp587Ala) c.2189A>C (p.Asp730Ala) | |
18 | g.31070787T= | CA2293646670 | DSC2 | c.1760A= (p.Asp587=) c.2189A= (p.Asp730=) | |
18 | g.31070788C>A | CA402112466 | DSC2 | c.1759G>T (p.Asp587Tyr) c.2188G>T (p.Asp730Tyr) | |
18 | g.31070788C>G | CA402112467 | DSC2 | c.1759G>C (p.Asp587His) c.2188G>C (p.Asp730His) | |
18 | g.31070788C>T | CA402112468 | DSC2 | c.1759G>A (p.Asp587Asn) c.2188G>A (p.Asp730Asn) | |
18 | g.31070789A>C | CA503384737 | DSC2 | c.1758T>G (p.Pro586=) c.2187T>G (p.Pro729=) | |
18 | g.31070789A>G | CA503384738 | DSC2 | c.1758T>C (p.Pro586=) c.2187T>C (p.Pro729=) | |
18 | g.31070789A>T | CA503384739 | DSC2 | c.1758T>A (p.Pro586=) c.2187T>A (p.Pro729=) | |
18 | g.31070789_31070790delinsAG | CA2293646671 | DSC2 | c.1757_1758delinsCT (p.Pro586=) c.2186_2187delinsCT (p.Pro729=) | |
18 | g.31070790G>A | CA402112469 | DSC2 | c.1757C>T (p.Pro586Leu) c.2186C>T (p.Pro729Leu) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31070790G>C | CA402112471 | DSC2 | c.1757C>G (p.Pro586Arg) c.2186C>G (p.Pro729Arg) | |
18 | g.31070790G= | CA2293646672 | DSC2 | c.1757C= (p.Pro586=) c.2186C= (p.Pro729=) | |
18 | g.31070790G>T | CA402112470 | DSC2 | c.1757C>A (p.Pro586His) c.2186C>A (p.Pro729His) | |
18 | g.31070791del | CA915952452 | DSC2 | c.1757del (p.Pro586LeufsTer4) c.2186del (p.Pro729LeufsTer4) | ClinVar dbSNP |
18 | g.31070791G>A | CA402112472 | DSC2 | c.1756C>T (p.Pro586Ser) c.2185C>T (p.Pro729Ser) | gnomAD v4 |
18 | g.31070791G>C | CA402112474 | DSC2 | c.1756C>G (p.Pro586Ala) c.2185C>G (p.Pro729Ala) | |
18 | g.31070791G= | CA2293646673 | DSC2 | c.1756C= (p.Pro586=) c.2185C= (p.Pro729=) | |
18 | g.31070791G>T | CA402112473 | DSC2 | c.1756C>A (p.Pro586Thr) c.2185C>A (p.Pro729Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.31070792A= | CA2293646674 | DSC2 | c.1755T= (p.Ile585=) c.2184T= (p.Ile728=) | |
18 | g.31070792A>C | CA402112475 | DSC2 | c.1755T>G (p.Ile585Met) c.2184T>G (p.Ile728Met) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31070792A>G | CA503384740 | DSC2 | c.1755T>C (p.Ile585=) c.2184T>C (p.Ile728=) | |
18 | g.31070792A>T | CA503384741 | DSC2 | c.1755T>A (p.Ile585=) c.2184T>A (p.Ile728=) | |
18 | g.31070793A= | CA2293646675 | DSC2 | c.1754T= (p.Ile585=) c.2183T= (p.Ile728=) | |
18 | g.31070793A>C | CA402112477 | DSC2 | c.1754T>G (p.Ile585Ser) c.2183T>G (p.Ile728Ser) | |
18 | g.31070793A>G | CA402112476 | DSC2 | c.1754T>C (p.Ile585Thr) c.2183T>C (p.Ile728Thr) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31070793A>T | CA402112478 | DSC2 | c.1754T>A (p.Ile585Asn) c.2183T>A (p.Ile728Asn) | COSMIC COSMIC |
18 | g.31070794T>A | CA402112479 | DSC2 | c.1753A>T (p.Ile585Phe) c.2182A>T (p.Ile728Phe) | gnomAD v4 |
18 | g.31070794T>C | CA402112481 | DSC2 | c.1753A>G (p.Ile585Val) c.2182A>G (p.Ile728Val) | |
18 | g.31070794T>G | CA402112480 | DSC2 | c.1753A>C (p.Ile585Leu) c.2182A>C (p.Ile728Leu) | |
18 | g.31070795T>A | CA503384742 | DSC2 | c.1752A>T (p.Val584=) c.2181A>T (p.Val727=) | |
18 | g.31070795T>C | CA503384743 | DSC2 | c.1752A>G (p.Val584=) c.2181A>G (p.Val727=) | gnomAD v4 |
18 | g.31070795T>G | CA503384744 | DSC2 | c.1752A>C (p.Val584=) c.2181A>C (p.Val727=) | |
18 | g.31070796A>C | CA402112482 | DSC2 | c.1751T>G (p.Val584Gly) c.2180T>G (p.Val727Gly) | |
18 | g.31070796A>G | CA402112483 | DSC2 | c.1751T>C (p.Val584Ala) c.2180T>C (p.Val727Ala) | |
18 | g.31070796A>T | CA402112484 | DSC2 | c.1751T>A (p.Val584Glu) c.2180T>A (p.Val727Glu) | |
18 | g.31070797C>A | CA402112485 | DSC2 | c.1750G>T (p.Val584Leu) c.2179G>T (p.Val727Leu) | |
18 | g.31070797C>G | CA402112486 | DSC2 | c.1750G>C (p.Val584Leu) c.2179G>C (p.Val727Leu) | |
18 | g.31070797C>T | CA402112487 | DSC2 | c.1750G>A (p.Val584Ile) c.2179G>A (p.Val727Ile) | |
18 | g.31070798T>A | CA402112488 | DSC2 | c.1749A>T (p.Lys583Asn) c.2178A>T (p.Lys726Asn) | |
18 | g.31070798T>C | CA035273 | DSC2 | c.1749A>G (p.Lys583=) c.2178A>G (p.Lys726=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070798T>G | CA402112489 | DSC2 | c.1749A>C (p.Lys583Asn) c.2178A>C (p.Lys726Asn) | |
18 | g.31070798T= | CA2293646676 | DSC2 | c.1749A= (p.Lys583=) c.2178A= (p.Lys726=) | |
18 | g.31070799T>A | CA402112492 | DSC2 | c.1748A>T (p.Lys583Ile) c.2177A>T (p.Lys726Ile) | |
18 | g.31070799T>C | CA402112491 | DSC2 | c.1748A>G (p.Lys583Arg) c.2177A>G (p.Lys726Arg) | |
18 | g.31070799T>G | CA402112490 | DSC2 | c.1748A>C (p.Lys583Thr) c.2177A>C (p.Lys726Thr) | |
18 | g.31070800T>A | CA402112493 | DSC2 | c.1747A>T (p.Lys583Ter) c.2176A>T (p.Lys726Ter) | |
18 | g.31070800T>C | CA402112494 | DSC2 | c.1747A>G (p.Lys583Glu) c.2176A>G (p.Lys726Glu) | |
18 | g.31070800T>G | CA402112495 | DSC2 | c.1747A>C (p.Lys583Gln) c.2176A>C (p.Lys726Gln) | dbSNP |
18 | g.31070800T= | CA2293646677 | DSC2 | c.1747A= (p.Lys583=) c.2176A= (p.Lys726=) | |
18 | g.31070801T>A | CA503384745 | DSC2 | c.1746A>T (p.Pro582=) c.2175A>T (p.Pro725=) | |
18 | g.31070801T>C | CA503384746 | DSC2 | c.1746A>G (p.Pro582=) c.2175A>G (p.Pro725=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.31070801T>G | CA297687769 | DSC2 | c.1746A>C (p.Pro582=) c.2175A>C (p.Pro725=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070801T= | CA2293646678 | DSC2 | c.1746A= (p.Pro582=) c.2175A= (p.Pro725=) | |
18 | g.31070802G>A | CA10577046 | DSC2 | c.1745C>T (p.Pro582Leu) c.2174C>T (p.Pro725Leu) | ClinVar dbSNP |
18 | g.31070802G>C | CA402112496 | DSC2 | c.1745C>G (p.Pro582Arg) c.2174C>G (p.Pro725Arg) | |
18 | g.31070802G= | CA2293646679 | DSC2 | c.1745C= (p.Pro582=) c.2174C= (p.Pro725=) | |
18 | g.31070802G>T | CA402112497 | DSC2 | c.1745C>A (p.Pro582Gln) c.2174C>A (p.Pro725Gln) | |
18 | g.31070803G>A | CA402112498 | DSC2 | c.1744C>T (p.Pro582Ser) c.2173C>T (p.Pro725Ser) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31070803G>C | CA402112499 | DSC2 | c.1744C>G (p.Pro582Ala) c.2173C>G (p.Pro725Ala) | gnomAD v4 |
18 | g.31070803G= | CA2293646680 | DSC2 | c.1744C= (p.Pro582=) c.2173C= (p.Pro725=) | |
18 | g.31070803G>T | CA402112500 | DSC2 | c.1744C>A (p.Pro582Thr) c.2173C>A (p.Pro725Thr) | gnomAD v4 |
18 | g.31070804T>A | CA402112501 | DSC2 | c.1743A>T (p.Gln581His) c.2172A>T (p.Gln724His) | |
18 | g.31070804T>C | CA503384747 | DSC2 | c.1743A>G (p.Gln581=) c.2172A>G (p.Gln724=) | |
18 | g.31070804T>G | CA402112502 | DSC2 | c.1743A>C (p.Gln581His) c.2172A>C (p.Gln724His) | |
18 | g.31070805T>A | CA402112504 | DSC2 | c.1742A>T (p.Gln581Leu) c.2171A>T (p.Gln724Leu) | |
18 | g.31070805T>C | CA402112505 | DSC2 | c.1742A>G (p.Gln581Arg) c.2171A>G (p.Gln724Arg) | |
18 | g.31070805T>G | CA402112503 | DSC2 | c.1742A>C (p.Gln581Pro) c.2171A>C (p.Gln724Pro) | |
18 | g.31070806G>A | CA402112506 | DSC2 | c.1741C>T (p.Gln581Ter) c.2170C>T (p.Gln724Ter) | |
18 | g.31070806G>C | CA402112507 | DSC2 | c.1741C>G (p.Gln581Glu) c.2170C>G (p.Gln724Glu) | |
18 | g.31070806G>T | CA402112508 | DSC2 | c.1741C>A (p.Gln581Lys) c.2170C>A (p.Gln724Lys) | |
18 | g.31070807T>A | CA402112509 | DSC2 | c.1740A>T (p.Lys580Asn) c.2169A>T (p.Lys723Asn) | |
18 | g.31070807T>C | CA503384748 | DSC2 | c.1740A>G (p.Lys580=) c.2169A>G (p.Lys723=) | gnomAD v4 |
18 | g.31070807T>G | CA402112510 | DSC2 | c.1740A>C (p.Lys580Asn) c.2169A>C (p.Lys723Asn) | |
18 | g.31070808T>A | CA402112511 | DSC2 | c.1739A>T (p.Lys580Ile) c.2168A>T (p.Lys723Ile) | |
18 | g.31070808T>C | CA402112512 | DSC2 | c.1739A>G (p.Lys580Arg) c.2168A>G (p.Lys723Arg) | |
18 | g.31070808T>G | CA402112513 | DSC2 | c.1739A>C (p.Lys580Thr) c.2168A>C (p.Lys723Thr) | |
18 | g.31070809T>A | CA402112514 | DSC2 | c.1738A>T (p.Lys580Ter) c.2167A>T (p.Lys723Ter) | COSMIC COSMIC |
18 | g.31070809T>C | CA402112515 | DSC2 | c.1738A>G (p.Lys580Glu) c.2167A>G (p.Lys723Glu) | gnomAD v4 |
18 | g.31070809T>G | CA402112516 | DSC2 | c.1738A>C (p.Lys580Gln) c.2167A>C (p.Lys723Gln) | |
18 | g.31070810A>C | CA503384749 | DSC2 | c.1737T>G (p.Ser579=) c.2166T>G (p.Ser722=) | |
18 | g.31070810A>G | CA503384750 | DSC2 | c.1737T>C (p.Ser579=) c.2166T>C (p.Ser722=) | |
18 | g.31070810A>T | CA503384751 | DSC2 | c.1737T>A (p.Ser579=) c.2166T>A (p.Ser722=) | |
18 | g.31070811G>A | CA402112519 | DSC2 | c.1736C>T (p.Ser579Phe) c.2165C>T (p.Ser722Phe) | |
18 | g.31070811G>C | CA402112518 | DSC2 | c.1736C>G (p.Ser579Cys) c.2165C>G (p.Ser722Cys) | |
18 | g.31070811G>T | CA402112517 | DSC2 | c.1736C>A (p.Ser579Tyr) c.2165C>A (p.Ser722Tyr) | |
18 | g.31070812A>C | CA402112520 | DSC2 | c.1735T>G (p.Ser579Ala) c.2164T>G (p.Ser722Ala) | |
18 | g.31070812A>G | CA402112521 | DSC2 | c.1735T>C (p.Ser579Pro) c.2164T>C (p.Ser722Pro) | ClinVar |
18 | g.31070812A>T | CA402112522 | DSC2 | c.1735T>A (p.Ser579Thr) c.2164T>A (p.Ser722Thr) | |
18 | g.31070813C>A | CA503384752 | DSC2 | c.1734G>T (p.Thr578=) c.2163G>T (p.Thr721=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31070813C= | CA2293646681 | DSC2 | c.1734G= (p.Thr578=) c.2163G= (p.Thr721=) | |
18 | g.31070813C>G | CA503384753 | DSC2 | c.1734G>C (p.Thr578=) c.2163G>C (p.Thr721=) | |
18 | g.31070813C>T | CA035221 | DSC2 | c.1734G>A (p.Thr578=) c.2163G>A (p.Thr721=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070813_31070814delinsCG | CA2293646682 | DSC2 | c.1733_1734delinsCG (p.Thr578=) c.2162_2163delinsCG (p.Thr721=) | |
18 | g.31070814del | CA913189077 | DSC2 | c.1733del (p.Thr578SerfsTer7) c.2162del (p.Thr721SerfsTer7) | ClinVar dbSNP |
18 | g.31070814G>A | CA035202 | DSC2 | c.1733C>T (p.Thr578Met) c.2162C>T (p.Thr721Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
18 | g.31070814G>C | CA402112523 | DSC2 | c.1733C>G (p.Thr578Arg) c.2162C>G (p.Thr721Arg) | |
18 | g.31070814G= | CA2293646683 | DSC2 | c.1733C= (p.Thr578=) c.2162C= (p.Thr721=) | |
18 | g.31070814G>T | CA402112524 | DSC2 | c.1733C>A (p.Thr578Lys) c.2162C>A (p.Thr721Lys) | ClinVar dbSNP gnomAD v4 |
18 | g.31070815T>A | CA402112525 | DSC2 | c.1732A>T (p.Thr578Ser) c.2161A>T (p.Thr721Ser) | |
18 | g.31070815T>C | CA402112526 | DSC2 | c.1732A>G (p.Thr578Ala) c.2161A>G (p.Thr721Ala) | |
18 | g.31070815T>G | CA402112527 | DSC2 | c.1732A>C (p.Thr578Pro) c.2161A>C (p.Thr721Pro) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31070815T= | CA2293646684 | DSC2 | c.1732A= (p.Thr578=) c.2161A= (p.Thr721=) | |
18 | g.31070816C>A | CA503384754 | DSC2 | c.1731G>T (p.Gly577=) c.2160G>T (p.Gly720=) | gnomAD v4 |
18 | g.31070816C>G | CA503384755 | DSC2 | c.1731G>C (p.Gly577=) c.2160G>C (p.Gly720=) | ClinVar dbSNP |
18 | g.31070816C>T | CA503384756 | DSC2 | c.1731G>A (p.Gly577=) c.2160G>A (p.Gly720=) | COSMIC COSMIC |
18 | g.31070817C>A | CA402112528 | DSC2 | c.1730G>T (p.Gly577Val) c.2159G>T (p.Gly720Val) | |
18 | g.31070817C>G | CA402112529 | DSC2 | c.1730G>C (p.Gly577Ala) c.2159G>C (p.Gly720Ala) | |
18 | g.31070817C>T | CA402112530 | DSC2 | c.1730G>A (p.Gly577Glu) c.2159G>A (p.Gly720Glu) | gnomAD v4 |
18 | g.31070818C>A | CA402112532 | DSC2 | c.1729G>T (p.Gly577Trp) c.2158G>T (p.Gly720Trp) | |
18 | g.31070818C= | CA2293646685 | DSC2 | c.1729G= (p.Gly577=) c.2158G= (p.Gly720=) | |
18 | g.31070818C>G | CA402112533 | DSC2 | c.1729G>C (p.Gly577Arg) c.2158G>C (p.Gly720Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.31070818C>T | CA402112531 | DSC2 | c.1729G>A (p.Gly577Arg) c.2158G>A (p.Gly720Arg) | dbSNP |
18 | g.31070819A= | CA2293646686 | DSC2 | c.1728T= (p.Ser576=) c.2157T= (p.Ser719=) | |
18 | g.31070819A>C | CA503384757 | DSC2 | c.1728T>G (p.Ser576=) c.2157T>G (p.Ser719=) | |
18 | g.31070819A>G | CA16607902 | DSC2 | c.1728T>C (p.Ser576=) c.2157T>C (p.Ser719=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070819A>T | CA503384758 | DSC2 | c.1728T>A (p.Ser576=) c.2157T>A (p.Ser719=) | |
18 | g.31070820G>A | CA402112536 | DSC2 | c.1727C>T (p.Ser576Phe) c.2156C>T (p.Ser719Phe) | gnomAD v4 |
18 | g.31070820G>C | CA402112534 | DSC2 | c.1727C>G (p.Ser576Cys) c.2156C>G (p.Ser719Cys) | |
18 | g.31070820G>T | CA402112535 | DSC2 | c.1727C>A (p.Ser576Tyr) c.2156C>A (p.Ser719Tyr) | |
18 | g.31070821A>C | CA402112537 | DSC2 | c.1726T>G (p.Ser576Ala) c.2155T>G (p.Ser719Ala) | |
18 | g.31070821A>G | CA402112538 | DSC2 | c.1726T>C (p.Ser576Pro) c.2155T>C (p.Ser719Pro) | |
18 | g.31070821A>T | CA402112539 | DSC2 | c.1726T>A (p.Ser576Thr) c.2155T>A (p.Ser719Thr) | |
18 | g.31070822A>C | CA503384761 | DSC2 | c.1725T>G (p.Ala575=) c.2154T>G (p.Ala718=) | |
18 | g.31070822A>G | CA503384759 | DSC2 | c.1725T>C (p.Ala575=) c.2154T>C (p.Ala718=) | |
18 | g.31070822A>T | CA503384760 | DSC2 | c.1725T>A (p.Ala575=) c.2154T>A (p.Ala718=) | |
18 | g.31070823G>A | CA402112540 | DSC2 | c.1724C>T (p.Ala575Val) c.2153C>T (p.Ala718Val) | |
18 | g.31070823G>C | CA402112541 | DSC2 | c.1724C>G (p.Ala575Gly) c.2153C>G (p.Ala718Gly) | |
18 | g.31070823G>T | CA402112542 | DSC2 | c.1724C>A (p.Ala575Asp) c.2153C>A (p.Ala718Asp) | |
18 | g.31070823_31070824delinsGC | CA2293646687 | DSC2 | c.1723_1724delinsGC (p.Ala575=) c.2152_2153delinsGC (p.Ala718=) | |
18 | g.31070824C>A | CA035181 | DSC2 | c.1723G>T (p.Ala575Ser) c.2152G>T (p.Ala718Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31070824C= | CA2293646688 | DSC2 | c.1723G= (p.Ala575=) c.2152G= (p.Ala718=) | |
18 | g.31070824C>G | CA402112543 | DSC2 | c.1723G>C (p.Ala575Pro) c.2152G>C (p.Ala718Pro) | |
18 | g.31070824C>T | CA402112544 | DSC2 | c.1723G>A (p.Ala575Thr) c.2152G>A (p.Ala718Thr) | dbSNP |
18 | g.31070827del | CA035169 | DSC2 | c.1723del (p.Ala575LeufsTer10) c.2152del (p.Ala718LeufsTer10) | ClinVar dbSNP ExAC gnomAD v2 |
18 | g.31070825C>A | CA503384762 | DSC2 | c.1722G>T (p.Gly574=) c.2151G>T (p.Gly717=) | |
18 | g.31070825C= | CA2293646689 | DSC2 | c.1722G= (p.Gly574=) c.2151G= (p.Gly717=) | |
18 | g.31070825C>G | CA035152 | DSC2 | c.1722G>C (p.Gly574=) c.2151G>C (p.Gly717=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070825C>T | CA503384763 | DSC2 | c.1722G>A (p.Gly574=) c.2151G>A (p.Gly717=) | |
18 | g.31070826C>A | CA402112546 | DSC2 | c.1721G>T (p.Gly574Val) c.2150G>T (p.Gly717Val) | |
18 | g.31070826C= | CA2293646690 | DSC2 | c.1721G= (p.Gly574=) c.2150G= (p.Gly717=) | |
18 | g.31070826C>G | CA402112545 | DSC2 | c.1721G>C (p.Gly574Ala) c.2150G>C (p.Gly717Ala) | COSMIC COSMIC |
18 | g.31070826C>T | CA035137 | DSC2 | c.1721G>A (p.Gly574Glu) c.2150G>A (p.Gly717Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070827C>A | CA402112547 | DSC2 | c.1720G>T (p.Gly574Trp) c.2149G>T (p.Gly717Trp) | |
18 | g.31070827C= | CA2293646691 | DSC2 | c.1720G= (p.Gly574=) c.2149G= (p.Gly717=) | |
18 | g.31070827C>G | CA402112548 | DSC2 | c.1720G>C (p.Gly574Arg) c.2149G>C (p.Gly717Arg) | |
18 | g.31070827C>T | CA297687842 | DSC2 | c.1720G>A (p.Gly574Arg) c.2149G>A (p.Gly717Arg) | dbSNP gnomAD v4 |
18 | g.31070828A>C | CA402112549 | DSC2 | c.1719T>G (p.Cys573Trp) c.2148T>G (p.Cys716Trp) | |
18 | g.31070828A>G | CA503384764 | DSC2 | c.1719T>C (p.Cys573=) c.2148T>C (p.Cys716=) | |
18 | g.31070828A>T | CA402112550 | DSC2 | c.1719T>A (p.Cys573Ter) c.2148T>A (p.Cys716Ter) | |
18 | g.31070829C>A | CA035114 | DSC2 | c.1718G>T (p.Cys573Phe) c.2147G>T (p.Cys716Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31070829C= | CA2293646692 | DSC2 | c.1718G= (p.Cys573=) c.2147G= (p.Cys716=) | |
18 | g.31070829C>G | CA022618 | DSC2 | c.1718G>C (p.Cys573Ser) c.2147G>C (p.Cys716Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.31070829C>T | CA402112551 | DSC2 | c.1718G>A (p.Cys573Tyr) c.2147G>A (p.Cys716Tyr) | ClinVar dbSNP gnomAD v4 |
18 | g.31070830A= | CA2293646693 | DSC2 | c.1717T= (p.Cys573=) c.2146T= (p.Cys716=) | |
18 | g.31070830A>C | CA035060 | DSC2 | c.1717T>G (p.Cys573Gly) c.2146T>G (p.Cys716Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31070830A>G | CA402112552 | DSC2 | c.1717T>C (p.Cys573Arg) c.2146T>C (p.Cys716Arg) | gnomAD v4 |
18 | g.31070830A>T | CA402112553 | DSC2 | c.1717T>A (p.Cys573Ser) c.2146T>A (p.Cys716Ser) | |
18 | g.31070831G>A | CA503384765 | DSC2 | c.1716C>T (p.Val572=) c.2145C>T (p.Val715=) | |
18 | g.31070831G>C | CA503384766 | DSC2 | c.1716C>G (p.Val572=) c.2145C>G (p.Val715=) | |
18 | g.31070831G>T | CA503384767 | DSC2 | c.1716C>A (p.Val572=) c.2145C>A (p.Val715=) | COSMIC COSMIC |
18 | g.31070832A>C | CA402112556 | DSC2 | c.1715T>G (p.Val572Gly) c.2144T>G (p.Val715Gly) | |
18 | g.31070832A>G | CA402112555 | DSC2 | c.1715T>C (p.Val572Ala) c.2144T>C (p.Val715Ala) | |
18 | g.31070832A>T | CA402112554 | DSC2 | c.1715T>A (p.Val572Asp) c.2144T>A (p.Val715Asp) | |
18 | g.31070833C>A | CA402112557 | DSC2 | c.1714G>T (p.Val572Phe) c.2143G>T (p.Val715Phe) | |
18 | g.31070833C>G | CA402112558 | DSC2 | c.1714G>C (p.Val572Leu) c.2143G>C (p.Val715Leu) | gnomAD v4 |
18 | g.31070833C>T | CA402112559 | DSC2 | c.1714G>A (p.Val572Ile) c.2143G>A (p.Val715Ile) | |
18 | g.31070834C>A | CA503384768 | DSC2 | c.1713G>T (p.Leu571=) c.2142G>T (p.Leu714=) | |
18 | g.31070834C= | CA2293646694 | DSC2 | c.1713G= (p.Leu571=) c.2142G= (p.Leu714=) | |
18 | g.31070834C>G | CA035038 | DSC2 | c.1713G>C (p.Leu571=) c.2142G>C (p.Leu714=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070834C>T | CA035018 | DSC2 | c.1713G>A (p.Leu571=) c.2142G>A (p.Leu714=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31070835A>C | CA402112560 | DSC2 | c.1712T>G (p.Leu571Arg) c.2141T>G (p.Leu714Arg) | |
18 | g.31070835A>G | CA402112561 | DSC2 | c.1712T>C (p.Leu571Pro) c.2141T>C (p.Leu714Pro) | dbSNP |
18 | g.31070835A>T | CA402112562 | DSC2 | c.1712T>A (p.Leu571Gln) c.2141T>A (p.Leu714Gln) | |
18 | g.31070836G>A | CA503384769 | DSC2 | c.1711C>T (p.Leu571=) c.2140C>T (p.Leu714=) | |
18 | g.31070836G>C | CA402112563 | DSC2 | c.1711C>G (p.Leu571Val) c.2140C>G (p.Leu714Val) | |
18 | g.31070836G>T | CA402112564 | DSC2 | c.1711C>A (p.Leu571Met) c.2140C>A (p.Leu714Met) | |
18 | g.31070837C>A | CA297687895 | DSC2 | c.1710G>T (p.Thr570=) c.2139G>T (p.Thr713=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31070837C= | CA2293646695 | DSC2 | c.1710G= (p.Thr570=) c.2139G= (p.Thr713=) | |
18 | g.31070837C>G | CA503384770 | DSC2 | c.1710G>C (p.Thr570=) c.2139G>C (p.Thr713=) | |
18 | g.31070837C>T | CA022613 | DSC2 | c.1710G>A (p.Thr570=) c.2139G>A (p.Thr713=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070838G>A | CA034970 | DSC2 | c.1709C>T (p.Thr570Met) c.2138C>T (p.Thr713Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
18 | g.31070838G>C | CA402112566 | DSC2 | c.1709C>G (p.Thr570Arg) c.2138C>G (p.Thr713Arg) | |
18 | g.31070838G= | CA2293646696 | DSC2 | c.1709C= (p.Thr570=) c.2138C= (p.Thr713=) | |
18 | g.31070838G>T | CA402112565 | DSC2 | c.1709C>A (p.Thr570Lys) c.2138C>A (p.Thr713Lys) | ClinVar dbSNP gnomAD v4 |
18 | g.31070839T>A | CA402112567 | DSC2 | c.1708A>T (p.Thr570Ser) c.2137A>T (p.Thr713Ser) | |
18 | g.31070839T>C | CA402112568 | DSC2 | c.1708A>G (p.Thr570Ala) c.2137A>G (p.Thr713Ala) | |
18 | g.31070839T>G | CA402112569 | DSC2 | c.1708A>C (p.Thr570Pro) c.2137A>C (p.Thr713Pro) | |
18 | g.31070840A>C | CA402112570 | DSC2 | c.1707T>G (p.Phe569Leu) c.2136T>G (p.Phe712Leu) | |
18 | g.31070840A>G | CA503384771 | DSC2 | c.1707T>C (p.Phe569=) c.2136T>C (p.Phe712=) | |
18 | g.31070840A>T | CA402112571 | DSC2 | c.1707T>A (p.Phe569Leu) c.2136T>A (p.Phe712Leu) | |
18 | g.31070842dup | CA2573155205 | DSC2 | c.1707dup (p.Thr570TyrfsTer11) c.2136dup (p.Thr713TyrfsTer11) | ClinVar dbSNP |
18 | g.31070842del | CA2739268623 | DSC2 | c.1707del (p.Phe569LeufsTer16) c.2136del (p.Phe712LeufsTer16) | ClinVar |
18 | g.31070841A>C | CA402112574 | DSC2 | c.1706T>G (p.Phe569Cys) c.2135T>G (p.Phe712Cys) | |
18 | g.31070841A>G | CA402112572 | DSC2 | c.1706T>C (p.Phe569Ser) c.2135T>C (p.Phe712Ser) | |
18 | g.31070841A>T | CA402112573 | DSC2 | c.1706T>A (p.Phe569Tyr) c.2135T>A (p.Phe712Tyr) | |
18 | g.31070842A>C | CA402112575 | DSC2 | c.1705T>G (p.Phe569Val) c.2134T>G (p.Phe712Val) | |
18 | g.31070842A>G | CA402112576 | DSC2 | c.1705T>C (p.Phe569Leu) c.2134T>C (p.Phe712Leu) | |
18 | g.31070842A>T | CA402112577 | DSC2 | c.1705T>A (p.Phe569Ile) c.2134T>A (p.Phe712Ile) | |
18 | g.31070843C>A | CA503384772 | DSC2 | c.1704G>T (p.Leu568=) c.2133G>T (p.Leu711=) | |
18 | g.31070843C>G | CA503384773 | DSC2 | c.1704G>C (p.Leu568=) c.2133G>C (p.Leu711=) | |
18 | g.31070843C>T | CA503384774 | DSC2 | c.1704G>A (p.Leu568=) c.2133G>A (p.Leu711=) | |
18 | g.31070844A>C | CA402112578 | DSC2 | c.1703T>G (p.Leu568Arg) c.2132T>G (p.Leu711Arg) | |
18 | g.31070844A>G | CA402112579 | DSC2 | c.1703T>C (p.Leu568Pro) c.2132T>C (p.Leu711Pro) | |
18 | g.31070844A>T | CA402112580 | DSC2 | c.1703T>A (p.Leu568Gln) c.2132T>A (p.Leu711Gln) | ClinVar gnomAD v4 |
18 | g.31070845G>A | CA503384775 | DSC2 | c.1702C>T (p.Leu568=) c.2131C>T (p.Leu711=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
18 | g.31070845G>C | CA402112582 | DSC2 | c.1702C>G (p.Leu568Val) c.2131C>G (p.Leu711Val) | ClinVar |
18 | g.31070845G= | CA2293646697 | DSC2 | c.1702C= (p.Leu568=) c.2131C= (p.Leu711=) | |
18 | g.31070845G>T | CA402112581 | DSC2 | c.1702C>A (p.Leu568Met) c.2131C>A (p.Leu711Met) | |
18 | g.31070846G>A | CA503384776 | DSC2 | c.1701C>T (p.Ile567=) c.2130C>T (p.Ile710=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31070846G>C | CA402112583 | DSC2 | c.1701C>G (p.Ile567Met) c.2130C>G (p.Ile710Met) | |
18 | g.31070846G= | CA2293646698 | DSC2 | c.1701C= (p.Ile567=) c.2130C= (p.Ile710=) | |
18 | g.31070846G>T | CA503384777 | DSC2 | c.1701C>A (p.Ile567=) c.2130C>A (p.Ile710=) | |
18 | g.31070847A= | CA2293646699 | DSC2 | c.1700T= (p.Ile567=) c.2129T= (p.Ile710=) | |
18 | g.31070847A>C | CA402112585 | DSC2 | c.1700T>G (p.Ile567Ser) c.2129T>G (p.Ile710Ser) | dbSNP |
18 | g.31070847A>G | CA402112584 | DSC2 | c.1700T>C (p.Ile567Thr) c.2129T>C (p.Ile710Thr) | |
18 | g.31070847A>T | CA402112586 | DSC2 | c.1700T>A (p.Ile567Asn) c.2129T>A (p.Ile710Asn) | |
18 | g.31070848T>A | CA034955 | DSC2 | c.1699A>T (p.Ile567Phe) c.2128A>T (p.Ile710Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31070848T>C | CA402112587 | DSC2 | c.1699A>G (p.Ile567Val) c.2128A>G (p.Ile710Val) | ClinVar |
18 | g.31070848T>G | CA402112588 | DSC2 | c.1699A>C (p.Ile567Leu) c.2128A>C (p.Ile710Leu) | |
18 | g.31070848T= | CA2293646700 | DSC2 | c.1699A= (p.Ile567=) c.2128A= (p.Ile710=) |