| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68158079T>A | CA381588264 | KMT5B | c.2054A>T (p.Asn685Ile) n.2619A>T c.*1891A>T (n.*1891A>T) c.*1934A>T (n.*1934A>T) c.1751A>T (p.Asn584Ile) c.*1475A>T (n.*1475A>T) c.2267A>T (p.Asn756Ile) c.1547A>T (p.Asn516Ile) c.2198A>T (p.Asn733Ile) c.1025A>T (p.Asn342Ile) | |
| 11 | g.68158079T>C | CA6148028 | KMT5B | c.2054A>G (p.Asn685Ser) n.2619A>G c.*1891A>G (n.*1891A>G) c.*1934A>G (n.*1934A>G) c.1751A>G (p.Asn584Ser) c.*1475A>G (n.*1475A>G) c.2267A>G (p.Asn756Ser) c.1547A>G (p.Asn516Ser) c.2198A>G (p.Asn733Ser) c.1025A>G (p.Asn342Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68158079T>G | CA381588266 | KMT5B | c.2054A>C (p.Asn685Thr) n.2619A>C c.*1891A>C (n.*1891A>C) c.*1934A>C (n.*1934A>C) c.1751A>C (p.Asn584Thr) c.*1475A>C (n.*1475A>C) c.2267A>C (p.Asn756Thr) c.1547A>C (p.Asn516Thr) c.2198A>C (p.Asn733Thr) c.1025A>C (p.Asn342Thr) | |
| 11 | g.68158079T= | CA1980500487 | KMT5B | c.2054A= (p.Asn685=) n.2619A= c.*1891A= (n.*1891A=) c.*1934A= (n.*1934A=) c.1751A= (p.Asn584=) c.*1475A= (n.*1475A=) c.2267A= (p.Asn756=) c.1547A= (p.Asn516=) c.2198A= (p.Asn733=) c.1025A= (p.Asn342=) | |
| 11 | g.68158080T>A | CA381588269 | KMT5B | c.2053A>T (p.Asn685Tyr) n.2618A>T c.*1890A>T (n.*1890A>T) c.*1933A>T (n.*1933A>T) c.1750A>T (p.Asn584Tyr) c.*1474A>T (n.*1474A>T) c.2266A>T (p.Asn756Tyr) c.1546A>T (p.Asn516Tyr) c.2197A>T (p.Asn733Tyr) c.1024A>T (p.Asn342Tyr) | |
| 11 | g.68158080T>C | CA381588270 | KMT5B | c.2053A>G (p.Asn685Asp) n.2618A>G c.*1890A>G (n.*1890A>G) c.*1933A>G (n.*1933A>G) c.1750A>G (p.Asn584Asp) c.*1474A>G (n.*1474A>G) c.2266A>G (p.Asn756Asp) c.1546A>G (p.Asn516Asp) c.2197A>G (p.Asn733Asp) c.1024A>G (p.Asn342Asp) | |
| 11 | g.68158080T>G | CA381588272 | KMT5B | c.2053A>C (p.Asn685His) n.2618A>C c.*1890A>C (n.*1890A>C) c.*1933A>C (n.*1933A>C) c.1750A>C (p.Asn584His) c.*1474A>C (n.*1474A>C) c.2266A>C (p.Asn756His) c.1546A>C (p.Asn516His) c.2197A>C (p.Asn733His) c.1024A>C (p.Asn342His) | |
| 11 | g.68158081G>A | CA475514921 | KMT5B | c.2052C>T (p.Asn684=) n.2617C>T c.*1889C>T (n.*1889C>T) c.*1932C>T (n.*1932C>T) c.1749C>T (p.Asn583=) c.*1473C>T (n.*1473C>T) c.2265C>T (p.Asn755=) c.1545C>T (p.Asn515=) c.2196C>T (p.Asn732=) c.1023C>T (p.Asn341=) | |
| 11 | g.68158081G>C | CA381588274 | KMT5B | c.2052C>G (p.Asn684Lys) n.2617C>G c.*1889C>G (n.*1889C>G) c.*1932C>G (n.*1932C>G) c.1749C>G (p.Asn583Lys) c.*1473C>G (n.*1473C>G) c.2265C>G (p.Asn755Lys) c.1545C>G (p.Asn515Lys) c.2196C>G (p.Asn732Lys) c.1023C>G (p.Asn341Lys) | |
| 11 | g.68158081G>T | CA381588276 | KMT5B | c.2052C>A (p.Asn684Lys) n.2617C>A c.*1889C>A (n.*1889C>A) c.*1932C>A (n.*1932C>A) c.1749C>A (p.Asn583Lys) c.*1473C>A (n.*1473C>A) c.2265C>A (p.Asn755Lys) c.1545C>A (p.Asn515Lys) c.2196C>A (p.Asn732Lys) c.1023C>A (p.Asn341Lys) | |
| 11 | g.68158082T>A | CA381588278 | KMT5B | c.2051A>T (p.Asn684Ile) n.2616A>T c.*1888A>T (n.*1888A>T) c.*1931A>T (n.*1931A>T) c.1748A>T (p.Asn583Ile) c.*1472A>T (n.*1472A>T) c.2264A>T (p.Asn755Ile) c.1544A>T (p.Asn515Ile) c.2195A>T (p.Asn732Ile) c.1022A>T (p.Asn341Ile) | |
| 11 | g.68158082T>C | CA6148029 | KMT5B | c.2051A>G (p.Asn684Ser) n.2616A>G c.*1888A>G (n.*1888A>G) c.*1931A>G (n.*1931A>G) c.1748A>G (p.Asn583Ser) c.*1472A>G (n.*1472A>G) c.2264A>G (p.Asn755Ser) c.1544A>G (p.Asn515Ser) c.2195A>G (p.Asn732Ser) c.1022A>G (p.Asn341Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68158082T>G | CA381588279 | KMT5B | c.2051A>C (p.Asn684Thr) n.2616A>C c.*1888A>C (n.*1888A>C) c.*1931A>C (n.*1931A>C) c.1748A>C (p.Asn583Thr) c.*1472A>C (n.*1472A>C) c.2264A>C (p.Asn755Thr) c.1544A>C (p.Asn515Thr) c.2195A>C (p.Asn732Thr) c.1022A>C (p.Asn341Thr) | |
| 11 | g.68158082T= | CA1980500494 | KMT5B | c.2051A= (p.Asn684=) n.2616A= c.*1888A= (n.*1888A=) c.*1931A= (n.*1931A=) c.1748A= (p.Asn583=) c.*1472A= (n.*1472A=) c.2264A= (p.Asn755=) c.1544A= (p.Asn515=) c.2195A= (p.Asn732=) c.1022A= (p.Asn341=) | |
| 11 | g.68158083T>A | CA381588285 | KMT5B | c.2050A>T (p.Asn684Tyr) n.2615A>T c.*1887A>T (n.*1887A>T) c.*1930A>T (n.*1930A>T) c.1747A>T (p.Asn583Tyr) c.*1471A>T (n.*1471A>T) c.2263A>T (p.Asn755Tyr) c.1543A>T (p.Asn515Tyr) c.2194A>T (p.Asn732Tyr) c.1021A>T (p.Asn341Tyr) | |
| 11 | g.68158083T>C | CA381588282 | KMT5B | c.2050A>G (p.Asn684Asp) n.2615A>G c.*1887A>G (n.*1887A>G) c.*1930A>G (n.*1930A>G) c.1747A>G (p.Asn583Asp) c.*1471A>G (n.*1471A>G) c.2263A>G (p.Asn755Asp) c.1543A>G (p.Asn515Asp) c.2194A>G (p.Asn732Asp) c.1021A>G (p.Asn341Asp) | gnomAD v4 |
| 11 | g.68158083T>G | CA381588283 | KMT5B | c.2050A>C (p.Asn684His) n.2615A>C c.*1887A>C (n.*1887A>C) c.*1930A>C (n.*1930A>C) c.1747A>C (p.Asn583His) c.*1471A>C (n.*1471A>C) c.2263A>C (p.Asn755His) c.1543A>C (p.Asn515His) c.2194A>C (p.Asn732His) c.1021A>C (p.Asn341His) | |
| 11 | g.68158084A>C | CA381588287 | KMT5B | c.2049T>G (p.Asp683Glu) n.2614T>G c.*1886T>G (n.*1886T>G) c.*1929T>G (n.*1929T>G) c.1746T>G (p.Asp582Glu) c.*1470T>G (n.*1470T>G) c.2262T>G (p.Asp754Glu) c.1542T>G (p.Asp514Glu) c.2193T>G (p.Asp731Glu) c.1020T>G (p.Asp340Glu) | |
| 11 | g.68158084A>G | CA475514924 | KMT5B | c.2049T>C (p.Asp683=) n.2614T>C c.*1886T>C (n.*1886T>C) c.*1929T>C (n.*1929T>C) c.1746T>C (p.Asp582=) c.*1470T>C (n.*1470T>C) c.2262T>C (p.Asp754=) c.1542T>C (p.Asp514=) c.2193T>C (p.Asp731=) c.1020T>C (p.Asp340=) | |
| 11 | g.68158084A>T | CA381588289 | KMT5B | c.2049T>A (p.Asp683Glu) n.2614T>A c.*1886T>A (n.*1886T>A) c.*1929T>A (n.*1929T>A) c.1746T>A (p.Asp582Glu) c.*1470T>A (n.*1470T>A) c.2262T>A (p.Asp754Glu) c.1542T>A (p.Asp514Glu) c.2193T>A (p.Asp731Glu) c.1020T>A (p.Asp340Glu) | |
| 11 | g.68158085T>A | CA381588291 | KMT5B | c.2048A>T (p.Asp683Val) n.2613A>T c.*1885A>T (n.*1885A>T) c.*1928A>T (n.*1928A>T) c.1745A>T (p.Asp582Val) c.*1469A>T (n.*1469A>T) c.2261A>T (p.Asp754Val) c.1541A>T (p.Asp514Val) c.2192A>T (p.Asp731Val) c.1019A>T (p.Asp340Val) | gnomAD v4 |
| 11 | g.68158085T>C | CA381588293 | KMT5B | c.2048A>G (p.Asp683Gly) n.2613A>G c.*1885A>G (n.*1885A>G) c.*1928A>G (n.*1928A>G) c.1745A>G (p.Asp582Gly) c.*1469A>G (n.*1469A>G) c.2261A>G (p.Asp754Gly) c.1541A>G (p.Asp514Gly) c.2192A>G (p.Asp731Gly) c.1019A>G (p.Asp340Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68158085T>G | CA381588294 | KMT5B | c.2048A>C (p.Asp683Ala) n.2613A>C c.*1885A>C (n.*1885A>C) c.*1928A>C (n.*1928A>C) c.1745A>C (p.Asp582Ala) c.*1469A>C (n.*1469A>C) c.2261A>C (p.Asp754Ala) c.1541A>C (p.Asp514Ala) c.2192A>C (p.Asp731Ala) c.1019A>C (p.Asp340Ala) | |
| 11 | g.68158085T= | CA1980500506 | KMT5B | c.2048A= (p.Asp683=) n.2613A= c.*1885A= (n.*1885A=) c.*1928A= (n.*1928A=) c.1745A= (p.Asp582=) c.*1469A= (n.*1469A=) c.2261A= (p.Asp754=) c.1541A= (p.Asp514=) c.2192A= (p.Asp731=) c.1019A= (p.Asp340=) | |
| 11 | g.68158086del | CA2695214893 | KMT5B | c.2047del (p.Asp683IlefsTer6) n.2612del c.*1884del (n.*1884del) c.*1927del (n.*1927del) c.1744del (p.Asp582IlefsTer6) c.*1468del (n.*1468del) c.2260del (p.Asp754IlefsTer6) c.1540del (p.Asp514IlefsTer6) c.2191del (p.Asp731IlefsTer6) c.1018del (p.Asp340IlefsTer6) | |
| 11 | g.68158086C>A | CA381588296 | KMT5B | c.2047G>T (p.Asp683Tyr) n.2612G>T c.*1884G>T (n.*1884G>T) c.*1927G>T (n.*1927G>T) c.1744G>T (p.Asp582Tyr) c.*1468G>T (n.*1468G>T) c.2260G>T (p.Asp754Tyr) c.1540G>T (p.Asp514Tyr) c.2191G>T (p.Asp731Tyr) c.1018G>T (p.Asp340Tyr) | |
| 11 | g.68158086C= | CA1980500513 | KMT5B | c.2047G= (p.Asp683=) n.2612G= c.*1884G= (n.*1884G=) c.*1927G= (n.*1927G=) c.1744G= (p.Asp582=) c.*1468G= (n.*1468G=) c.2260G= (p.Asp754=) c.1540G= (p.Asp514=) c.2191G= (p.Asp731=) c.1018G= (p.Asp340=) | |
| 11 | g.68158086C>G | CA381588298 | KMT5B | c.2047G>C (p.Asp683His) n.2612G>C c.*1884G>C (n.*1884G>C) c.*1927G>C (n.*1927G>C) c.1744G>C (p.Asp582His) c.*1468G>C (n.*1468G>C) c.2260G>C (p.Asp754His) c.1540G>C (p.Asp514His) c.2191G>C (p.Asp731His) c.1018G>C (p.Asp340His) | |
| 11 | g.68158086C>T | CA6148030 | KMT5B | c.2047G>A (p.Asp683Asn) n.2612G>A c.*1884G>A (n.*1884G>A) c.*1927G>A (n.*1927G>A) c.1744G>A (p.Asp582Asn) c.*1468G>A (n.*1468G>A) c.2260G>A (p.Asp754Asn) c.1540G>A (p.Asp514Asn) c.2191G>A (p.Asp731Asn) c.1018G>A (p.Asp340Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68158087G>A | CA6148031 | KMT5B | c.2046C>T (p.Asn682=) n.2611C>T c.*1883C>T (n.*1883C>T) c.*1926C>T (n.*1926C>T) c.1743C>T (p.Asn581=) c.*1467C>T (n.*1467C>T) c.2259C>T (p.Asn753=) c.1539C>T (p.Asn513=) c.2190C>T (p.Asn730=) c.1017C>T (p.Asn339=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68158087G>C | CA381588302 | KMT5B | c.2046C>G (p.Asn682Lys) n.2611C>G c.*1883C>G (n.*1883C>G) c.*1926C>G (n.*1926C>G) c.1743C>G (p.Asn581Lys) c.*1467C>G (n.*1467C>G) c.2259C>G (p.Asn753Lys) c.1539C>G (p.Asn513Lys) c.2190C>G (p.Asn730Lys) c.1017C>G (p.Asn339Lys) | |
| 11 | g.68158087G= | CA1980500523 | KMT5B | c.2046C= (p.Asn682=) n.2611C= c.*1883C= (n.*1883C=) c.*1926C= (n.*1926C=) c.1743C= (p.Asn581=) c.*1467C= (n.*1467C=) c.2259C= (p.Asn753=) c.1539C= (p.Asn513=) c.2190C= (p.Asn730=) c.1017C= (p.Asn339=) | |
| 11 | g.68158087G>T | CA381588304 | KMT5B | c.2046C>A (p.Asn682Lys) n.2611C>A c.*1883C>A (n.*1883C>A) c.*1926C>A (n.*1926C>A) c.1743C>A (p.Asn581Lys) c.*1467C>A (n.*1467C>A) c.2259C>A (p.Asn753Lys) c.1539C>A (p.Asn513Lys) c.2190C>A (p.Asn730Lys) c.1017C>A (p.Asn339Lys) | |
| 11 | g.68158089_68158091del | CA2574900138 | KMT5B | c.2044_2046del (p.Asn682del) n.2609_2611del c.*1881_*1883del (n.*1881_*1883del) c.*1924_*1926del (n.*1924_*1926del) c.1741_1743del (p.Asn581del) c.*1465_*1467del (n.*1465_*1467del) c.2257_2259del (p.Asn753del) c.1537_1539del (p.Asn513del) c.2188_2190del (p.Asn730del) c.1015_1017del (p.Asn339del) | |
| 11 | g.68158088T>A | CA381588308 | KMT5B | c.2045A>T (p.Asn682Ile) n.2610A>T c.*1882A>T (n.*1882A>T) c.*1925A>T (n.*1925A>T) c.1742A>T (p.Asn581Ile) c.*1466A>T (n.*1466A>T) c.2258A>T (p.Asn753Ile) c.1538A>T (p.Asn513Ile) c.2189A>T (p.Asn730Ile) c.1016A>T (p.Asn339Ile) | |
| 11 | g.68158088T>C | CA224248129 | KMT5B | c.2045A>G (p.Asn682Ser) n.2610A>G c.*1882A>G (n.*1882A>G) c.*1925A>G (n.*1925A>G) c.1742A>G (p.Asn581Ser) c.*1466A>G (n.*1466A>G) c.2258A>G (p.Asn753Ser) c.1538A>G (p.Asn513Ser) c.2189A>G (p.Asn730Ser) c.1016A>G (p.Asn339Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68158088T>G | CA381588306 | KMT5B | c.2045A>C (p.Asn682Thr) n.2610A>C c.*1882A>C (n.*1882A>C) c.*1925A>C (n.*1925A>C) c.1742A>C (p.Asn581Thr) c.*1466A>C (n.*1466A>C) c.2258A>C (p.Asn753Thr) c.1538A>C (p.Asn513Thr) c.2189A>C (p.Asn730Thr) c.1016A>C (p.Asn339Thr) | |
| 11 | g.68158088T= | CA1980500528 | KMT5B | c.2045A= (p.Asn682=) n.2610A= c.*1882A= (n.*1882A=) c.*1925A= (n.*1925A=) c.1742A= (p.Asn581=) c.*1466A= (n.*1466A=) c.2258A= (p.Asn753=) c.1538A= (p.Asn513=) c.2189A= (p.Asn730=) c.1016A= (p.Asn339=) | |
| 11 | g.68158089T>A | CA381588310 | KMT5B | c.2044A>T (p.Asn682Tyr) n.2609A>T c.*1881A>T (n.*1881A>T) c.*1924A>T (n.*1924A>T) c.1741A>T (p.Asn581Tyr) c.*1465A>T (n.*1465A>T) c.2257A>T (p.Asn753Tyr) c.1537A>T (p.Asn513Tyr) c.2188A>T (p.Asn730Tyr) c.1015A>T (p.Asn339Tyr) | |
| 11 | g.68158089T>C | CA381588312 | KMT5B | c.2044A>G (p.Asn682Asp) n.2609A>G c.*1881A>G (n.*1881A>G) c.*1924A>G (n.*1924A>G) c.1741A>G (p.Asn581Asp) c.*1465A>G (n.*1465A>G) c.2257A>G (p.Asn753Asp) c.1537A>G (p.Asn513Asp) c.2188A>G (p.Asn730Asp) c.1015A>G (p.Asn339Asp) | |
| 11 | g.68158089T>G | CA381588314 | KMT5B | c.2044A>C (p.Asn682His) n.2609A>C c.*1881A>C (n.*1881A>C) c.*1924A>C (n.*1924A>C) c.1741A>C (p.Asn581His) c.*1465A>C (n.*1465A>C) c.2257A>C (p.Asn753His) c.1537A>C (p.Asn513His) c.2188A>C (p.Asn730His) c.1015A>C (p.Asn339His) | |
| 11 | g.68158090G>A | CA475514929 | KMT5B | c.2043C>T (p.Asp681=) n.2608C>T c.*1880C>T (n.*1880C>T) c.*1923C>T (n.*1923C>T) c.1740C>T (p.Asp580=) c.*1464C>T (n.*1464C>T) c.2256C>T (p.Asp752=) c.1536C>T (p.Asp512=) c.2187C>T (p.Asp729=) c.1014C>T (p.Asp338=) | |
| 11 | g.68158090G>C | CA381588315 | KMT5B | c.2043C>G (p.Asp681Glu) n.2608C>G c.*1880C>G (n.*1880C>G) c.*1923C>G (n.*1923C>G) c.1740C>G (p.Asp580Glu) c.*1464C>G (n.*1464C>G) c.2256C>G (p.Asp752Glu) c.1536C>G (p.Asp512Glu) c.2187C>G (p.Asp729Glu) c.1014C>G (p.Asp338Glu) | gnomAD v4 |
| 11 | g.68158090G>T | CA381588318 | KMT5B | c.2043C>A (p.Asp681Glu) n.2608C>A c.*1880C>A (n.*1880C>A) c.*1923C>A (n.*1923C>A) c.1740C>A (p.Asp580Glu) c.*1464C>A (n.*1464C>A) c.2256C>A (p.Asp752Glu) c.1536C>A (p.Asp512Glu) c.2187C>A (p.Asp729Glu) c.1014C>A (p.Asp338Glu) | |
| 11 | g.68158091T>A | CA381588320 | KMT5B | c.2042A>T (p.Asp681Val) n.2607A>T c.*1879A>T (n.*1879A>T) c.*1922A>T (n.*1922A>T) c.1739A>T (p.Asp580Val) c.*1463A>T (n.*1463A>T) c.2255A>T (p.Asp752Val) c.1535A>T (p.Asp512Val) c.2186A>T (p.Asp729Val) c.1013A>T (p.Asp338Val) | |
| 11 | g.68158091T>C | CA6148032 | KMT5B | c.2042A>G (p.Asp681Gly) n.2607A>G c.*1879A>G (n.*1879A>G) c.*1922A>G (n.*1922A>G) c.1739A>G (p.Asp580Gly) c.*1463A>G (n.*1463A>G) c.2255A>G (p.Asp752Gly) c.1535A>G (p.Asp512Gly) c.2186A>G (p.Asp729Gly) c.1013A>G (p.Asp338Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68158091T>G | CA381588323 | KMT5B | c.2042A>C (p.Asp681Ala) n.2607A>C c.*1879A>C (n.*1879A>C) c.*1922A>C (n.*1922A>C) c.1739A>C (p.Asp580Ala) c.*1463A>C (n.*1463A>C) c.2255A>C (p.Asp752Ala) c.1535A>C (p.Asp512Ala) c.2186A>C (p.Asp729Ala) c.1013A>C (p.Asp338Ala) | |
| 11 | g.68158091T= | CA1980500530 | KMT5B | c.2042A= (p.Asp681=) n.2607A= c.*1879A= (n.*1879A=) c.*1922A= (n.*1922A=) c.1739A= (p.Asp580=) c.*1463A= (n.*1463A=) c.2255A= (p.Asp752=) c.1535A= (p.Asp512=) c.2186A= (p.Asp729=) c.1013A= (p.Asp338=) | |
| 11 | g.68158092C>A | CA381588325 | KMT5B | c.2041G>T (p.Asp681Tyr) n.2606G>T c.*1878G>T (n.*1878G>T) c.*1921G>T (n.*1921G>T) c.1738G>T (p.Asp580Tyr) c.*1462G>T (n.*1462G>T) c.2254G>T (p.Asp752Tyr) c.1534G>T (p.Asp512Tyr) c.2185G>T (p.Asp729Tyr) c.1012G>T (p.Asp338Tyr) | |
| 11 | g.68158092C>G | CA381588327 | KMT5B | c.2041G>C (p.Asp681His) n.2606G>C c.*1878G>C (n.*1878G>C) c.*1921G>C (n.*1921G>C) c.1738G>C (p.Asp580His) c.*1462G>C (n.*1462G>C) c.2254G>C (p.Asp752His) c.1534G>C (p.Asp512His) c.2185G>C (p.Asp729His) c.1012G>C (p.Asp338His) |