| 19 | g.48419748C>A | CA508038158 | GRIN2D | c.2025C>A (p.Ala675=)
| |
| 19 | g.48419748C= | CA2339887617 | GRIN2D | c.2025C= (p.Ala675=)
| |
| 19 | g.48419748C>G | CA508038159 | GRIN2D | c.2025C>G (p.Ala675=)
| |
| 19 | g.48419748C>T | CA508038160 | GRIN2D | c.2025C>T (p.Ala675=)
| dbSNP |
| 19 | g.48419749A>C | CA406698312 | GRIN2D | c.2026A>C (p.Asn676His)
| |
| 19 | g.48419749A>G | CA406698311 | GRIN2D | c.2026A>G (p.Asn676Asp)
| |
| 19 | g.48419749A>T | CA406698310 | GRIN2D | c.2026A>T (p.Asn676Tyr)
| |
| 19 | g.48419750A>C | CA406698313 | GRIN2D | c.2027A>C (p.Asn676Thr)
| |
| 19 | g.48419750A>G | CA406698314 | GRIN2D | c.2027A>G (p.Asn676Ser)
| |
| 19 | g.48419750A>T | CA406698315 | GRIN2D | c.2027A>T (p.Asn676Ile)
| ClinVar |
| 19 | g.48419751C>A | CA406698316 | GRIN2D | c.2028C>A (p.Asn676Lys)
| gnomAD v4 |
| 19 | g.48419751C= | CA2339887618 | GRIN2D | c.2028C= (p.Asn676=)
| |
| 19 | g.48419751C>G | CA406698317 | GRIN2D | c.2028C>G (p.Asn676Lys)
| |
| 19 | g.48419751C>T | CA508038161 | GRIN2D | c.2028C>T (p.Asn676=)
| dbSNP gnomAD v4 |
| 19 | g.48419752C>A | CA406698318 | GRIN2D | c.2029C>A (p.Leu677Met)
| |
| 19 | g.48419752C= | CA2339887619 | GRIN2D | c.2029C= (p.Leu677=)
| |
| 19 | g.48419752C>G | CA406698319 | GRIN2D | c.2029C>G (p.Leu677Val)
| ClinVar dbSNP |
| 19 | g.48419752C>T | CA309338917 | GRIN2D | c.2029C>T (p.Leu677=)
| dbSNP |
| 19 | g.48419753T>A | CA406698320 | GRIN2D | c.2030T>A (p.Leu677Gln)
| |
| 19 | g.48419753T>C | CA406698322 | GRIN2D | c.2030T>C (p.Leu677Pro)
| |
| 19 | g.48419753T>G | CA406698321 | GRIN2D | c.2030T>G (p.Leu677Arg)
| |
| 19 | g.48419754G>A | CA9550637 | GRIN2D | c.2031G>A (p.Leu677=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48419754G>C | CA508038162 | GRIN2D | c.2031G>C (p.Leu677=)
| gnomAD v4 |
| 19 | g.48419754G= | CA2339887620 | GRIN2D | c.2031G= (p.Leu677=)
| |
| 19 | g.48419754G>T | CA508038163 | GRIN2D | c.2031G>T (p.Leu677=)
| |
| 19 | g.48419755G>A | CA406698323 | GRIN2D | c.2032G>A (p.Ala678Thr)
| |
| 19 | g.48419755G>C | CA406698324 | GRIN2D | c.2032G>C (p.Ala678Pro)
| |
| 19 | g.48419755G>T | CA406698325 | GRIN2D | c.2032G>T (p.Ala678Ser)
| |
| 19 | g.48419756C>A | CA406698326 | GRIN2D | c.2033C>A (p.Ala678Asp)
| ClinVar dbSNP |
| 19 | g.48419756C>G | CA406698328 | GRIN2D | c.2033C>G (p.Ala678Gly)
| |
| 19 | g.48419756C>T | CA406698327 | GRIN2D | c.2033C>T (p.Ala678Val)
| |
| 19 | g.48419757C>A | CA508038164 | GRIN2D | c.2034C>A (p.Ala678=)
| |
| 19 | g.48419757C= | CA2339887621 | GRIN2D | c.2034C= (p.Ala678=)
| |
| 19 | g.48419757C>G | CA508038165 | GRIN2D | c.2034C>G (p.Ala678=)
| dbSNP |
| 19 | g.48419757C>T | CA508038166 | GRIN2D | c.2034C>T (p.Ala678=)
| |
| 19 | g.48419758G>A | CA406698329 | GRIN2D | c.2035G>A (p.Ala679Thr)
| gnomAD v4 |
| 19 | g.48419758G>C | CA406698330 | GRIN2D | c.2035G>C (p.Ala679Pro)
| |
| 19 | g.48419758G= | CA2339887622 | GRIN2D | c.2035G= (p.Ala679=)
| |
| 19 | g.48419758G>T | CA406698331 | GRIN2D | c.2035G>T (p.Ala679Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48419759C>A | CA406698332 | GRIN2D | c.2036C>A (p.Ala679Asp)
| |
| 19 | g.48419759C>G | CA406698333 | GRIN2D | c.2036C>G (p.Ala679Gly)
| |
| 19 | g.48419759C>T | CA406698334 | GRIN2D | c.2036C>T (p.Ala679Val)
| |
| 19 | g.48419760C>A | CA508038167 | GRIN2D | c.2037C>A (p.Ala679=)
| |
| 19 | g.48419760C= | CA2339887623 | GRIN2D | c.2037C= (p.Ala679=)
| |
| 19 | g.48419760C>G | CA508038168 | GRIN2D | c.2037C>G (p.Ala679=)
| |
| 19 | g.48419760C>T | CA508038169 | GRIN2D | c.2037C>T (p.Ala679=)
| dbSNP gnomAD v2 |
| 19 | g.48419761T>A | CA406698335 | GRIN2D | c.2038T>A (p.Phe680Ile)
| |
| 19 | g.48419761T>C | CA406698336 | GRIN2D | c.2038T>C (p.Phe680Leu)
| gnomAD v4 |
| 19 | g.48419761T>G | CA406698337 | GRIN2D | c.2038T>G (p.Phe680Val)
| |
| 19 | g.48419762T>A | CA406698338 | GRIN2D | c.2039T>A (p.Phe680Tyr)
| |
| 19 | g.48419762T>C | CA406698339 | GRIN2D | c.2039T>C (p.Phe680Ser)
| |
| 19 | g.48419762T>G | CA406698340 | GRIN2D | c.2039T>G (p.Phe680Cys)
| |
| 19 | g.48419763C>A | CA406698341 | GRIN2D | c.2040C>A (p.Phe680Leu)
| |
| 19 | g.48419763C>G | CA406698342 | GRIN2D | c.2040C>G (p.Phe680Leu)
| |
| 19 | g.48419763C>T | CA508038170 | GRIN2D | c.2040C>T (p.Phe680=)
| |
| 19 | g.48419764A= | CA2339887624 | GRIN2D | c.2041A= (p.Met681=)
| |
| 19 | g.48419764A>C | CA406698343 | GRIN2D | c.2041A>C (p.Met681Leu)
| ClinVar dbSNP |
| 19 | g.48419764A>G | CA406698345 | GRIN2D | c.2041A>G (p.Met681Val)
| ClinVar dbSNP |
| 19 | g.48419764A>T | CA406698344 | GRIN2D | c.2041A>T (p.Met681Leu)
| |
| 19 | g.48419765T>A | CA406698346 | GRIN2D | c.2042T>A (p.Met681Lys)
| |
| 19 | g.48419765T>C | CA406698347 | GRIN2D | c.2042T>C (p.Met681Thr)
| |
| 19 | g.48419765T>G | CA406698348 | GRIN2D | c.2042T>G (p.Met681Arg)
| |
| 19 | g.48419766G>A | CA406698349 | GRIN2D | c.2043G>A (p.Met681Ile)
| |
| 19 | g.48419766G>C | CA406698350 | GRIN2D | c.2043G>C (p.Met681Ile)
| ClinVar dbSNP |
| 19 | g.48419766G= | CA2339887625 | GRIN2D | c.2043G= (p.Met681=)
| |
| 19 | g.48419766G>T | CA406698351 | GRIN2D | c.2043G>T (p.Met681Ile)
| |
| 19 | g.48419767A>C | CA406698352 | GRIN2D | c.2044A>C (p.Ile682Leu)
| |
| 19 | g.48419767A>G | CA406698353 | GRIN2D | c.2044A>G (p.Ile682Val)
| |
| 19 | g.48419767A>T | CA406698354 | GRIN2D | c.2044A>T (p.Ile682Phe)
| |
| 19 | g.48419768T>A | CA406698355 | GRIN2D | c.2045T>A (p.Ile682Asn)
| |
| 19 | g.48419768T>C | CA406698356 | GRIN2D | c.2045T>C (p.Ile682Thr)
| |
| 19 | g.48419768T>G | CA406698357 | GRIN2D | c.2045T>G (p.Ile682Ser)
| |
| 19 | g.48419769C>A | CA508038171 | GRIN2D | c.2046C>A (p.Ile682=)
| |
| 19 | g.48419769C>G | CA406698358 | GRIN2D | c.2046C>G (p.Ile682Met)
| |
| 19 | g.48419769C>T | CA508038172 | GRIN2D | c.2046C>T (p.Ile682=)
| |
| 19 | g.48419770C>A | CA406698359 | GRIN2D | c.2047C>A (p.Gln683Lys)
| |
| 19 | g.48419770C>G | CA406698361 | GRIN2D | c.2047C>G (p.Gln683Glu)
| |
| 19 | g.48419770C>T | CA406698360 | GRIN2D | c.2047C>T (p.Gln683Ter)
| |
| 19 | g.48419771A>C | CA406698362 | GRIN2D | c.2048A>C (p.Gln683Pro)
| |
| 19 | g.48419771A>G | CA406698363 | GRIN2D | c.2048A>G (p.Gln683Arg)
| |
| 19 | g.48419771A>T | CA406698364 | GRIN2D | c.2048A>T (p.Gln683Leu)
| |
| 19 | g.48419772G>A | CA508038173 | GRIN2D | c.2049G>A (p.Gln683=)
| |
| 19 | g.48419772G>C | CA406698365 | GRIN2D | c.2049G>C (p.Gln683His)
| |
| 19 | g.48419772G>T | CA406698366 | GRIN2D | c.2049G>T (p.Gln683His)
| |
| 19 | g.48419773G>A | CA406698367 | GRIN2D | c.2050G>A (p.Glu684Lys)
| COSMIC |
| 19 | g.48419773G>C | CA406698368 | GRIN2D | c.2050G>C (p.Glu684Gln)
| |
| 19 | g.48419773G>T | CA406698369 | GRIN2D | c.2050G>T (p.Glu684Ter)
| |
| 19 | g.48419774A>C | CA406698370 | GRIN2D | c.2051A>C (p.Glu684Ala)
| |
| 19 | g.48419774A>G | CA406698371 | GRIN2D | c.2051A>G (p.Glu684Gly)
| |
| 19 | g.48419774A>T | CA406698372 | GRIN2D | c.2051A>T (p.Glu684Val)
| |
| 19 | g.48419775G>A | CA508038174 | GRIN2D | c.2052G>A (p.Glu684=)
| gnomAD v4 |
| 19 | g.48419775G>C | CA406698374 | GRIN2D | c.2052G>C (p.Glu684Asp)
| |
| 19 | g.48419775G>T | CA406698373 | GRIN2D | c.2052G>T (p.Glu684Asp)
| |
| 19 | g.48419776G>A | CA406698375 | GRIN2D | c.2053G>A (p.Glu685Lys)
| |
| 19 | g.48419776G>C | CA406698376 | GRIN2D | c.2053G>C (p.Glu685Gln)
| |
| 19 | g.48419776G>T | CA406698377 | GRIN2D | c.2053G>T (p.Glu685Ter)
| |
| 19 | g.48419777A>C | CA406698378 | GRIN2D | c.2054A>C (p.Glu685Ala)
| |
| 19 | g.48419777A>G | CA406698379 | GRIN2D | c.2054A>G (p.Glu685Gly)
| |
| 19 | g.48419777A>T | CA406698380 | GRIN2D | c.2054A>T (p.Glu685Val)
| |
| 19 | g.48419778G>A | CA508038175 | GRIN2D | c.2055G>A (p.Glu685=)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48419778G>C | CA406698381 | GRIN2D | c.2055G>C (p.Glu685Asp)
| |
| 19 | g.48419778G= | CA2339887626 | GRIN2D | c.2055G= (p.Glu685=)
| |
| 19 | g.48419778G>T | CA406698382 | GRIN2D | c.2055G>T (p.Glu685Asp)
| |
| 19 | g.48419779T>A | CA406698383 | GRIN2D | c.2056T>A (p.Tyr686Asn)
| gnomAD v4 |
| 19 | g.48419779T>C | CA406698384 | GRIN2D | c.2056T>C (p.Tyr686His)
| |
| 19 | g.48419779T>G | CA406698385 | GRIN2D | c.2056T>G (p.Tyr686Asp)
| |
| 19 | g.48419780A>C | CA406698386 | GRIN2D | c.2057A>C (p.Tyr686Ser)
| |
| 19 | g.48419780A>G | CA406698387 | GRIN2D | c.2057A>G (p.Tyr686Cys)
| gnomAD v4 |
| 19 | g.48419780A>T | CA406698388 | GRIN2D | c.2057A>T (p.Tyr686Phe)
| |
| 19 | g.48419781C>A | CA406698390 | GRIN2D | c.2058C>A (p.Tyr686Ter)
| |
| 19 | g.48419781C>G | CA406698389 | GRIN2D | c.2058C>G (p.Tyr686Ter)
| gnomAD v4 |
| 19 | g.48419781C>T | CA508038176 | GRIN2D | c.2058C>T (p.Tyr686=)
| gnomAD v4 |
| 19 | g.48419782G>A | CA406698391 | GRIN2D | c.2059G>A (p.Val687Met)
| gnomAD v4 |
| 19 | g.48419782G>C | CA406698392 | GRIN2D | c.2059G>C (p.Val687Leu)
| |
| 19 | g.48419782G>T | CA406698393 | GRIN2D | c.2059G>T (p.Val687Leu)
| |
| 19 | g.48419783T>A | CA406698394 | GRIN2D | c.2060T>A (p.Val687Glu)
| |
| 19 | g.48419783T>C | CA406698395 | GRIN2D | c.2060T>C (p.Val687Ala)
| |
| 19 | g.48419783T>G | CA406698396 | GRIN2D | c.2060T>G (p.Val687Gly)
| |
| 19 | g.48419784G>A | CA508038177 | GRIN2D | c.2061G>A (p.Val687=)
| gnomAD v4 |
| 19 | g.48419784G>C | CA508038178 | GRIN2D | c.2061G>C (p.Val687=)
| |
| 19 | g.48419784G>T | CA508038179 | GRIN2D | c.2061G>T (p.Val687=)
| |
| 19 | g.48419785G>A | CA406698397 | GRIN2D | c.2062G>A (p.Asp688Asn)
| |
| 19 | g.48419785G>C | CA406698398 | GRIN2D | c.2062G>C (p.Asp688His)
| gnomAD v4 |
| 19 | g.48419785G>T | CA406698399 | GRIN2D | c.2062G>T (p.Asp688Tyr)
| |
| 19 | g.48419786A>C | CA406698400 | GRIN2D | c.2063A>C (p.Asp688Ala)
| |
| 19 | g.48419786A>G | CA406698401 | GRIN2D | c.2063A>G (p.Asp688Gly)
| |
| 19 | g.48419786A>T | CA406698402 | GRIN2D | c.2063A>T (p.Asp688Val)
| |
| 19 | g.48419787T>A | CA406698403 | GRIN2D | c.2064T>A (p.Asp688Glu)
| |
| 19 | g.48419787T>C | CA508038180 | GRIN2D | c.2064T>C (p.Asp688=)
| |
| 19 | g.48419787T>G | CA406698404 | GRIN2D | c.2064T>G (p.Asp688Glu)
| |
| 19 | g.48419788A>C | CA406698406 | GRIN2D | c.2065A>C (p.Thr689Pro)
| |
| 19 | g.48419788A>G | CA406698407 | GRIN2D | c.2065A>G (p.Thr689Ala)
| |
| 19 | g.48419788A>T | CA406698405 | GRIN2D | c.2065A>T (p.Thr689Ser)
| |
| 19 | g.48419789C>A | CA406698409 | GRIN2D | c.2066C>A (p.Thr689Asn)
| |
| 19 | g.48419789C>G | CA406698408 | GRIN2D | c.2066C>G (p.Thr689Ser)
| |
| 19 | g.48419789C>T | CA406698410 | GRIN2D | c.2066C>T (p.Thr689Ile)
| |
| 19 | g.48419790T>A | CA508038181 | GRIN2D | c.2067T>A (p.Thr689=)
| |
| 19 | g.48419790T>C | CA508038183 | GRIN2D | c.2067T>C (p.Thr689=)
| gnomAD v4 |
| 19 | g.48419790T>G | CA508038182 | GRIN2D | c.2067T>G (p.Thr689=)
| ClinVar dbSNP |
| 19 | g.48419790T= | CA2339887627 | GRIN2D | c.2067T= (p.Thr689=)
| |
| 19 | g.48419791G>A | CA406698411 | GRIN2D | c.2068G>A (p.Val690Met)
| |
| 19 | g.48419791G>C | CA406698413 | GRIN2D | c.2068G>C (p.Val690Leu)
| |
| 19 | g.48419791G>T | CA406698412 | GRIN2D | c.2068G>T (p.Val690Leu)
| |
| 19 | g.48419792T>A | CA406698414 | GRIN2D | c.2069T>A (p.Val690Glu)
| gnomAD v4 |
| 19 | g.48419792T>C | CA406698415 | GRIN2D | c.2069T>C (p.Val690Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48419792T>G | CA406698416 | GRIN2D | c.2069T>G (p.Val690Gly)
| |
| 19 | g.48419792T= | CA2339887628 | GRIN2D | c.2069T= (p.Val690=)
| |
| 19 | g.48419793G>A | CA508038184 | GRIN2D | c.2070G>A (p.Val690=)
| |
| 19 | g.48419793G>C | CA508038185 | GRIN2D | c.2070G>C (p.Val690=)
| |
| 19 | g.48419793G>T | CA508038186 | GRIN2D | c.2070G>T (p.Val690=)
| |
| 19 | g.48419794_48419831del | CA2586189621 | GRIN2D | c.2071_2091+17del
| gnomAD v4 |
| 19 | g.48419794T>A | CA406698417 | GRIN2D | c.2071T>A (p.Ser691Thr)
| |
| 19 | g.48419794T>C | CA406698418 | GRIN2D | c.2071T>C (p.Ser691Pro)
| gnomAD v4 |
| 19 | g.48419794T>G | CA406698419 | GRIN2D | c.2071T>G (p.Ser691Ala)
| |
| 19 | g.48419795C>A | CA406698422 | GRIN2D | c.2072C>A (p.Ser691Tyr)
| |
| 19 | g.48419795C>G | CA406698421 | GRIN2D | c.2072C>G (p.Ser691Cys)
| |
| 19 | g.48419795C>T | CA406698420 | GRIN2D | c.2072C>T (p.Ser691Phe)
| COSMIC |
| 19 | g.48419796T>A | CA508038187 | GRIN2D | c.2073T>A (p.Ser691=)
| |
| 19 | g.48419796T>C | CA508038188 | GRIN2D | c.2073T>C (p.Ser691=)
| gnomAD v4 |
| 19 | g.48419796T>G | CA508038189 | GRIN2D | c.2073T>G (p.Ser691=)
| |
| 19 | g.48419797G>A | CA406698423 | GRIN2D | c.2074G>A (p.Gly692Arg)
| gnomAD v4 |
| 19 | g.48419797G>C | CA406698424 | GRIN2D | c.2074G>C (p.Gly692Arg)
| |
| 19 | g.48419797G>T | CA406698425 | GRIN2D | c.2074G>T (p.Gly692Trp)
| |
| 19 | g.48419798G>A | CA406698426 | GRIN2D | c.2075G>A (p.Gly692Glu)
| |
| 19 | g.48419798G>C | CA406698427 | GRIN2D | c.2075G>C (p.Gly692Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48419798G= | CA2339887629 | GRIN2D | c.2075G= (p.Gly692=)
| |
| 19 | g.48419798G>T | CA406698428 | GRIN2D | c.2075G>T (p.Gly692Val)
| |
| 19 | g.48419799G>A | CA508038190 | GRIN2D | c.2076G>A (p.Gly692=)
| gnomAD v4 |
| 19 | g.48419799G>C | CA508038191 | GRIN2D | c.2076G>C (p.Gly692=)
| dbSNP |
| 19 | g.48419799G= | CA2339887630 | GRIN2D | c.2076G= (p.Gly692=)
| |
| 19 | g.48419799G>T | CA508038192 | GRIN2D | c.2076G>T (p.Gly692=)
| COSMIC |
| 19 | g.48419800C>A | CA406698429 | GRIN2D | c.2077C>A (p.Leu693Ile)
| |
| 19 | g.48419800C>G | CA406698431 | GRIN2D | c.2077C>G (p.Leu693Val)
| |
| 19 | g.48419800C>T | CA406698430 | GRIN2D | c.2077C>T (p.Leu693Phe)
| |
| 19 | g.48419801T>A | CA406698432 | GRIN2D | c.2078T>A (p.Leu693His)
| gnomAD v4 |
| 19 | g.48419801T>C | CA406698433 | GRIN2D | c.2078T>C (p.Leu693Pro)
| |
| 19 | g.48419801T>G | CA406698434 | GRIN2D | c.2078T>G (p.Leu693Arg)
| |
| 19 | g.48419802C>A | CA508038193 | GRIN2D | c.2079C>A (p.Leu693=)
| |
| 19 | g.48419802C>G | CA508038194 | GRIN2D | c.2079C>G (p.Leu693=)
| |
| 19 | g.48419802C>T | CA508038195 | GRIN2D | c.2079C>T (p.Leu693=)
| gnomAD v4 |
| 19 | g.48419803A= | CA2339887631 | GRIN2D | c.2080A= (p.Ser694=)
| |
| 19 | g.48419803A>C | CA406698435 | GRIN2D | c.2080A>C (p.Ser694Arg)
| ClinVar dbSNP |
| 19 | g.48419803A>G | CA406698436 | GRIN2D | c.2080A>G (p.Ser694Gly)
| |
| 19 | g.48419803A>T | CA406698437 | GRIN2D | c.2080A>T (p.Ser694Cys)
| |
| 19 | g.48419803_48419804insCACACACCTTGCG | CA2814653949 | GRIN2D | c.2080_2081insCACACACCTTGCG (p.Ser694ThrfsTer6)
| |
| 19 | g.48419804G>A | CA406698438 | GRIN2D | c.2081G>A (p.Ser694Asn)
| |
| 19 | g.48419804G>C | CA406698439 | GRIN2D | c.2081G>C (p.Ser694Thr)
| |
| 19 | g.48419804G>T | CA406698440 | GRIN2D | c.2081G>T (p.Ser694Ile)
| |
| 19 | g.48419805T>A | CA406698441 | GRIN2D | c.2082T>A (p.Ser694Arg)
| |
| 19 | g.48419805T>C | CA508038196 | GRIN2D | c.2082T>C (p.Ser694=)
| |
| 19 | g.48419805T>G | CA406698442 | GRIN2D | c.2082T>G (p.Ser694Arg)
| |
| 19 | g.48419806G>A | CA406698443 | GRIN2D | c.2083G>A (p.Asp695Asn)
| |
| 19 | g.48419806G>C | CA406698445 | GRIN2D | c.2083G>C (p.Asp695His)
| |
| 19 | g.48419806G>T | CA406698444 | GRIN2D | c.2083G>T (p.Asp695Tyr)
| gnomAD v4 |
| 19 | g.48419807A>C | CA406698446 | GRIN2D | c.2084A>C (p.Asp695Ala)
| |
| 19 | g.48419807A>G | CA406698447 | GRIN2D | c.2084A>G (p.Asp695Gly)
| gnomAD v4 |
| 19 | g.48419807A>T | CA406698448 | GRIN2D | c.2084A>T (p.Asp695Val)
| |
| 19 | g.48419808C>A | CA406698449 | GRIN2D | c.2085C>A (p.Asp695Glu)
| gnomAD v4 |
| 19 | g.48419808C>G | CA406698450 | GRIN2D | c.2085C>G (p.Asp695Glu)
| |
| 19 | g.48419808C>T | CA508038197 | GRIN2D | c.2085C>T (p.Asp695=)
| |
| 19 | g.48419809C>A | CA406698451 | GRIN2D | c.2086C>A (p.Arg696Ser)
| |
| 19 | g.48419809C= | CA2339887632 | GRIN2D | c.2086C= (p.Arg696=)
| |
| 19 | g.48419809C>G | CA406698452 | GRIN2D | c.2086C>G (p.Arg696Gly)
| |
| 19 | g.48419809C>T | CA9550638 | GRIN2D | c.2086C>T (p.Arg696Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48419810G>A | CA406698453 | GRIN2D | c.2087G>A (p.Arg696His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48419810G>C | CA406698454 | GRIN2D | c.2087G>C (p.Arg696Pro)
| |
| 19 | g.48419810G= | CA2339887633 | GRIN2D | c.2087G= (p.Arg696=)
| |
| 19 | g.48419810G>T | CA406698455 | GRIN2D | c.2087G>T (p.Arg696Leu)
| |
| 19 | g.48419811C>A | CA9550639 | GRIN2D | c.2088C>A (p.Arg696=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.48419811C= | CA2339887634 | GRIN2D | c.2088C= (p.Arg696=)
| |
| 19 | g.48419811C>G | CA508038199 | GRIN2D | c.2088C>G (p.Arg696=)
| ClinVar dbSNP gnomAD v4 |
| 19 | g.48419811C>T | CA508038198 | GRIN2D | c.2088C>T (p.Arg696=)
| |
| 19 | g.48419812A= | CA2339887635 | GRIN2D | c.2089A= (p.Lys697=)
| |
| 19 | g.48419812A>C | CA406698458 | GRIN2D | c.2089A>C (p.Lys697Gln)
| dbSNP |
| 19 | g.48419812A>G | CA406698456 | GRIN2D | c.2089A>G (p.Lys697Glu)
| |
| 19 | g.48419812A>T | CA406698457 | GRIN2D | c.2089A>T (p.Lys697Ter)
| |
| 19 | g.48419813A>C | CA406698459 | GRIN2D | c.2090A>C (p.Lys697Thr)
| |
| 19 | g.48419813A>G | CA406698460 | GRIN2D | c.2090A>G (p.Lys697Arg)
| gnomAD v4 |
| 19 | g.48419813A>T | CA406698461 | GRIN2D | c.2090A>T (p.Lys697Met)
| |
| 19 | g.48419814G>A | CA508038200 | GRIN2D | c.2091G>A (p.Lys697=)
| |
| 19 | g.48419814G>C | CA406698462 | GRIN2D | c.2091G>C (p.Lys697Asn)
| |
| 19 | g.48419814G>T | CA406698463 | GRIN2D | c.2091G>T (p.Lys697Asn)
| |
| 19 | g.48419815G>A | CA406698464 | GRIN2D | c.2091+1G>A (n.2091+1G>A)
| gnomAD v4 |
| 19 | g.48419815G>C | CA406698465 | GRIN2D | c.2091+1G>C (n.2091+1G>C)
| |
| 19 | g.48419815G>T | CA406698466 | GRIN2D | c.2091+1G>T (n.2091+1G>T)
| |
| 19 | g.48419822_48419823dup | CA2586189623 | GRIN2D | c.2091+8_2091+9dup (n.2091+8_2091+9dup)
| gnomAD v4 |
| 19 | g.48419822_48419823del | CA2586189622 | GRIN2D | c.2091+8_2091+9del (n.2091+8_2091+9del)
| gnomAD v4 |
| 19 | g.48419816T>A | CA406698467 | GRIN2D | c.2091+2T>A (n.2091+2T>A)
| |
| 19 | g.48419816T>C | CA406698468 | GRIN2D | c.2091+2T>C (n.2091+2T>C)
| |
| 19 | g.48419816T>G | CA406698469 | GRIN2D | c.2091+2T>G (n.2091+2T>G)
| gnomAD v3 gnomAD v4 |
| 19 | g.48419817G>A | CA2573156513 | GRIN2D | c.2091+3G>A (n.2091+3G>A)
| ClinVar dbSNP |
| 19 | g.48419817G= | CA2339887636 | GRIN2D | c.2091+3G= (n.2091+3G=)
| |
| 19 | g.48419817G>T | CA9550640 | GRIN2D | c.2091+3G>T (n.2091+3G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.48419818T>C | CA2586189624 | GRIN2D | c.2091+4T>C (n.2091+4T>C)
| gnomAD v4 |
| 19 | g.48419818T>G | CA2576837795 | GRIN2D | c.2091+4T>G (n.2091+4T>G)
| gnomAD v3 gnomAD v4 |
| 19 | g.48419820T>C | CA2533985355 | GRIN2D | c.2091+6T>C (n.2091+6T>C)
| |
| 19 | g.48419820T>G | CA2582220578 | GRIN2D | c.2091+6T>G (n.2091+6T>G)
| gnomAD v3 gnomAD v4 |
| 19 | g.48419821_48419833delinsGTGGGCCCAGGGC | CA2339887637 | GRIN2D | c.2091+7_2091+19delinsGTGGGCCCAGGGC (n.2091+7_2091+19delinsGTGGGCCCAGGGC)
| |
| 19 | g.48419822T>C | CA2586189625 | GRIN2D | c.2091+8T>C (n.2091+8T>C)
| gnomAD v4 |
| 19 | g.48419827_48419838del | CA883006655 | GRIN2D | c.2091+13_2091+24del (n.2091+13_2091+24del)
| dbSNP |
| 19 | g.48419823G>A | CA2586189626 | GRIN2D | c.2091+9G>A (n.2091+9G>A)
| gnomAD v4 |
| 19 | g.48419824G>A | CA883006663 | GRIN2D | c.2091+10G>A (n.2091+10G>A)
| dbSNP gnomAD v4 |
| 19 | g.48419824G= | CA2339887638 | GRIN2D | c.2091+10G= (n.2091+10G=)
| |
| 19 | g.48419824G>T | CA2586189627 | GRIN2D | c.2091+10G>T (n.2091+10G>T)
| gnomAD v4 |
| 19 | g.48419825G>A | CA2586189628 | GRIN2D | c.2091+11G>A (n.2091+11G>A)
| gnomAD v4 |
| 19 | g.48419825G>T | CA2586189629 | GRIN2D | c.2091+11G>T (n.2091+11G>T)
| gnomAD v4 |
| 19 | g.48419826C>A | CA2586189631 | GRIN2D | c.2091+12C>A (n.2091+12C>A)
| gnomAD v4 |
| 19 | g.48419828del | CA2586189630 | GRIN2D | c.2091+14del (n.2091+14del)
| gnomAD v4 |
| 19 | g.48419827C>A | CA2586189632 | GRIN2D | c.2091+13C>A (n.2091+13C>A)
| gnomAD v4 |
| 19 | g.48419827C>T | CA2586189633 | GRIN2D | c.2091+13C>T (n.2091+13C>T)
| gnomAD v4 |
| 19 | g.48419828C= | CA2339887640 | GRIN2D | c.2091+14C= (n.2091+14C=)
| |
| 19 | g.48419828C>T | CA2339887639 | GRIN2D | c.2091+14C>T (n.2091+14C>T)
| dbSNP |
| 19 | g.48419829A>G | CA2586189635 | GRIN2D | c.2091+15A>G (n.2091+15A>G)
| gnomAD v4 |
| 19 | g.48419829A>T | CA2586189634 | GRIN2D | c.2091+15A>T (n.2091+15A>T)
| gnomAD v4 |
| 19 | g.48419829_48419846delinsAGGGCTGGGCTGGAGCTG | CA2339887641 | GRIN2D | c.2091+15_2091+32delinsAGGGCTGGGCTGGAGCTG (n.2091+15_2091+32delinsAGGGCTGGGCTGGAGCTG)
| |
| 19 | g.48419830G>A | CA2339887643 | GRIN2D | c.2091+16G>A (n.2091+16G>A)
| dbSNP gnomAD v4 |
| 19 | g.48419830G= | CA2339887642 | GRIN2D | c.2091+16G= (n.2091+16G=)
| |
| 19 | g.48419837_48419841dup | CA2586189636 | GRIN2D | c.2091+23_2091+27dup (n.2091+23_2091+27dup)
| gnomAD v4 |
| 19 | g.48419838_48419854del | CA996593875 | GRIN2D | c.2091+24_2091+40del (n.2091+24_2091+40del)
| dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.48419831G>C | CA2586189637 | GRIN2D | c.2091+17G>C (n.2091+17G>C)
| gnomAD v4 |
| 19 | g.48419831G= | CA2339887645 | GRIN2D | c.2091+17G= (n.2091+17G=)
| |
| 19 | g.48419831G>T | CA633886848 | GRIN2D | c.2091+17G>T (n.2091+17G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48419831_48419842delinsGGCTGGGCTGGA | CA2339887644 | GRIN2D | c.2091+17_2091+28delinsGGCTGGGCTGGA (n.2091+17_2091+28delinsGGCTGGGCTGGA)
| |
| 19 | g.48419832G>C | CA9550642 | GRIN2D | c.2091+18G>C (n.2091+18G>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.48419832G= | CA2339887646 | GRIN2D | c.2091+18G= (n.2091+18G=)
| |
| 19 | g.48419832G>T | CA2339887647 | GRIN2D | c.2091+18G>T (n.2091+18G>T)
| dbSNP gnomAD v4 |
| 19 | g.48419838_48419848del | CA9550641 | GRIN2D | c.2091+24_2091+34del (n.2091+24_2091+34del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48419833C>A | CA2586189638 | GRIN2D | c.2091+19C>A (n.2091+19C>A)
| gnomAD v4 |
| 19 | g.48419834T>C | CA2586189639 | GRIN2D | c.2091+20T>C (n.2091+20T>C)
| gnomAD v4 |
| 19 | g.48419834T>G | CA2552700511 | GRIN2D | c.2091+20T>G (n.2091+20T>G)
| |
| 19 | g.48419842_48419853del | CA2576837796 | GRIN2D | c.2091+28_2091+39del (n.2091+28_2091+39del)
| |
| 19 | g.48419837G>A | CA2586189640 | GRIN2D | c.2091+23G>A (n.2091+23G>A)
| gnomAD v4 |
| 19 | g.48419837G= | CA2339887648 | GRIN2D | c.2091+23G= (n.2091+23G=)
| |
| 19 | g.48419837G>T | CA633886849 | GRIN2D | c.2091+23G>T (n.2091+23G>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48419838C>A | CA2586189642 | GRIN2D | c.2091+24C>A (n.2091+24C>A)
| gnomAD v4 |
| 19 | g.48419838C= | CA2339887649 | GRIN2D | c.2091+24C= (n.2091+24C=)
| |
| 19 | g.48419838C>T | CA996593877 | GRIN2D | c.2091+24C>T (n.2091+24C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.48419838_48419839insCCAC | CA2586189641 | GRIN2D | c.2091+24_2091+25insCCAC (n.2091+24_2091+25insCCAC)
| gnomAD v4 |
| 19 | g.48419839T>C | CA633886850 | GRIN2D | c.2091+25T>C (n.2091+25T>C)
| dbSNP gnomAD v2 |
| 19 | g.48419839T= | CA2339887650 | GRIN2D | c.2091+25T= (n.2091+25T=)
| |
| 19 | g.48419840G>A | CA2586189643 | GRIN2D | c.2091+26G>A (n.2091+26G>A)
| gnomAD v4 |
| 19 | g.48419842A= | CA2339887652 | GRIN2D | c.2091+28A= (n.2091+28A=)
| |
| 19 | g.48419842A>C | CA2576837797 | GRIN2D | c.2091+28A>C (n.2091+28A>C)
| gnomAD v4 |
| 19 | g.48419842A>G | CA996593879 | GRIN2D | c.2091+28A>G (n.2091+28A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.48419842_48419848delinsAGCTGGG | CA2339887651 | GRIN2D | c.2091+28_2091+34delinsAGCTGGG (n.2091+28_2091+34delinsAGCTGGG)
| |
| 19 | g.48419843G>A | CA2339887655 | GRIN2D | c.2091+29G>A (n.2091+29G>A)
| dbSNP |
| 19 | g.48419843G= | CA2339887654 | GRIN2D | c.2091+29G= (n.2091+29G=)
| |
| 19 | g.48419843_48419844insATGGGG | CA633886851 | GRIN2D | c.2091+29_2091+30insATGGGG (n.2091+29_2091+30insATGGGG)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48419854_48419859dup | CA9550643 | GRIN2D | c.2091+40_2091+45dup (n.2091+40_2091+45dup)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.48419854_48419859del | CA2339887653 | GRIN2D | c.2091+40_2091+45del (n.2091+40_2091+45del)
| dbSNP gnomAD v4 |
| 19 | g.48419844C>A | CA9550644 | GRIN2D | c.2091+30C>A (n.2091+30C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48419844C= | CA2339887656 | GRIN2D | c.2091+30C= (n.2091+30C=)
| |
| 19 | g.48419844C>G | CA883006683 | GRIN2D | c.2091+30C>G (n.2091+30C>G)
| dbSNP |
| 19 | g.48419844C>T | CA2581361177 | GRIN2D | c.2091+30C>T (n.2091+30C>T)
| gnomAD v4 |
| 19 | g.48419845T>C | CA883006684 | GRIN2D | c.2091+31T>C (n.2091+31T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.48419845T>G | CA2339887658 | GRIN2D | c.2091+31T>G (n.2091+31T>G)
| dbSNP |
| 19 | g.48419845T= | CA2339887657 | GRIN2D | c.2091+31T= (n.2091+31T=)
| |
| 19 | g.48419846G>A | CA2586189645 | GRIN2D | c.2091+32G>A (n.2091+32G>A)
| gnomAD v4 |
| 19 | g.48419849dup | CA633886852 | GRIN2D | c.2091+35dup (n.2091+35dup)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48419849del | CA2586189644 | GRIN2D | c.2091+35del (n.2091+35del)
| gnomAD v4 |
| 19 | g.48419847G>C | CA2586189646 | GRIN2D | c.2091+33G>C (n.2091+33G>C)
| gnomAD v4 |
| 19 | g.48419848G>A | CA2512256680 | GRIN2D | c.2091+34G>A (n.2091+34G>A)
| gnomAD v4 |
| 19 | g.48419848G>T | CA2586189647 | GRIN2D | c.2091+34G>T (n.2091+34G>T)
| gnomAD v4 |
