| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.152183037C>A | CA370100053 | KMT2C | c.1921G>T c.5202G>T (p.Glu1734Asp) c.576-443G>T c.2550G>T (p.Glu850Asp) c.824G>T c.*1295G>T (n.*1295G>T) c.4977G>T (p.Glu1659Asp) c.2598G>T (p.Glu866Asp) c.3900G>T (p.Glu1300Asp) n.127G>T n.2913G>T c.*2722G>T (n.*2722G>T) c.5253G>T (p.Glu1751Asp) c.5250G>T (p.Glu1750Asp) c.5205G>T (p.Glu1735Asp) c.5133G>T (p.Glu1711Asp) c.5100G>T (p.Glu1700Asp) c.4338G>T (p.Glu1446Asp) c.2799G>T (p.Glu933Asp) n.5461G>T c.5220G>T (p.Glu1740Asp) c.5106G>T (p.Glu1702Asp) c.5134-443G>T (n.5134-443G>T) c.1923G>T (p.Glu641Asp) c.1527G>T (p.Glu509Asp) n.5485G>T | dbSNP |
| 7 | g.152183037C= | CA1753025708 | KMT2C | c.1921G= c.5202G= (p.Glu1734=) c.576-443G= c.2550G= (p.Glu850=) c.824G= c.*1295G= (n.*1295G=) c.4977G= (p.Glu1659=) c.2598G= (p.Glu866=) c.3900G= (p.Glu1300=) n.127G= n.2913G= c.*2722G= (n.*2722G=) c.5253G= (p.Glu1751=) c.5250G= (p.Glu1750=) c.5205G= (p.Glu1735=) c.5133G= (p.Glu1711=) c.5100G= (p.Glu1700=) c.4338G= (p.Glu1446=) c.2799G= (p.Glu933=) n.5461G= c.5220G= (p.Glu1740=) c.5106G= (p.Glu1702=) c.5134-443G= (n.5134-443G=) c.1923G= (p.Glu641=) c.1527G= (p.Glu509=) n.5485G= | |
| 7 | g.152183037C>G | CA370100054 | KMT2C | c.1921G>C c.5202G>C (p.Glu1734Asp) c.576-443G>C c.2550G>C (p.Glu850Asp) c.824G>C c.*1295G>C (n.*1295G>C) c.4977G>C (p.Glu1659Asp) c.2598G>C (p.Glu866Asp) c.3900G>C (p.Glu1300Asp) n.127G>C n.2913G>C c.*2722G>C (n.*2722G>C) c.5253G>C (p.Glu1751Asp) c.5250G>C (p.Glu1750Asp) c.5205G>C (p.Glu1735Asp) c.5133G>C (p.Glu1711Asp) c.5100G>C (p.Glu1700Asp) c.4338G>C (p.Glu1446Asp) c.2799G>C (p.Glu933Asp) n.5461G>C c.5220G>C (p.Glu1740Asp) c.5106G>C (p.Glu1702Asp) c.5134-443G>C (n.5134-443G>C) c.1923G>C (p.Glu641Asp) c.1527G>C (p.Glu509Asp) n.5485G>C | dbSNP |
| 7 | g.152183037C>T | CA4580299 | KMT2C | c.1921G>A c.5202G>A (p.Glu1734=) c.576-443G>A c.2550G>A (p.Glu850=) c.824G>A c.*1295G>A (n.*1295G>A) c.4977G>A (p.Glu1659=) c.2598G>A (p.Glu866=) c.3900G>A (p.Glu1300=) n.127G>A n.2913G>A c.*2722G>A (n.*2722G>A) c.5253G>A (p.Glu1751=) c.5250G>A (p.Glu1750=) c.5205G>A (p.Glu1735=) c.5133G>A (p.Glu1711=) c.5100G>A (p.Glu1700=) c.4338G>A (p.Glu1446=) c.2799G>A (p.Glu933=) n.5461G>A c.5220G>A (p.Glu1740=) c.5106G>A (p.Glu1702=) c.5134-443G>A (n.5134-443G>A) c.1923G>A (p.Glu641=) c.1527G>A (p.Glu509=) n.5485G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.152183038T>A | CA370100056 | KMT2C | c.1920A>T c.5201A>T (p.Glu1734Val) c.576-444A>T c.2549A>T (p.Glu850Val) c.823A>T c.*1294A>T (n.*1294A>T) c.4976A>T (p.Glu1659Val) c.2597A>T (p.Glu866Val) c.3899A>T (p.Glu1300Val) n.126A>T n.2912A>T c.*2721A>T (n.*2721A>T) c.5252A>T (p.Glu1751Val) c.5249A>T (p.Glu1750Val) c.5204A>T (p.Glu1735Val) c.5132A>T (p.Glu1711Val) c.5099A>T (p.Glu1700Val) c.4337A>T (p.Glu1446Val) c.2798A>T (p.Glu933Val) n.5460A>T c.5219A>T (p.Glu1740Val) c.5105A>T (p.Glu1702Val) c.5134-444A>T (n.5134-444A>T) c.1922A>T (p.Glu641Val) c.1526A>T (p.Glu509Val) n.5484A>T | dbSNP |
| 7 | g.152183038T>C | CA370100057 | KMT2C | c.1920A>G c.5201A>G (p.Glu1734Gly) c.576-444A>G c.2549A>G (p.Glu850Gly) c.823A>G c.*1294A>G (n.*1294A>G) c.4976A>G (p.Glu1659Gly) c.2597A>G (p.Glu866Gly) c.3899A>G (p.Glu1300Gly) n.126A>G n.2912A>G c.*2721A>G (n.*2721A>G) c.5252A>G (p.Glu1751Gly) c.5249A>G (p.Glu1750Gly) c.5204A>G (p.Glu1735Gly) c.5132A>G (p.Glu1711Gly) c.5099A>G (p.Glu1700Gly) c.4337A>G (p.Glu1446Gly) c.2798A>G (p.Glu933Gly) n.5460A>G c.5219A>G (p.Glu1740Gly) c.5105A>G (p.Glu1702Gly) c.5134-444A>G (n.5134-444A>G) c.1922A>G (p.Glu641Gly) c.1526A>G (p.Glu509Gly) n.5484A>G | |
| 7 | g.152183038T>G | CA370100055 | KMT2C | c.1920A>C c.5201A>C (p.Glu1734Ala) c.576-444A>C c.2549A>C (p.Glu850Ala) c.823A>C c.*1294A>C (n.*1294A>C) c.4976A>C (p.Glu1659Ala) c.2597A>C (p.Glu866Ala) c.3899A>C (p.Glu1300Ala) n.126A>C n.2912A>C c.*2721A>C (n.*2721A>C) c.5252A>C (p.Glu1751Ala) c.5249A>C (p.Glu1750Ala) c.5204A>C (p.Glu1735Ala) c.5132A>C (p.Glu1711Ala) c.5099A>C (p.Glu1700Ala) c.4337A>C (p.Glu1446Ala) c.2798A>C (p.Glu933Ala) n.5460A>C c.5219A>C (p.Glu1740Ala) c.5105A>C (p.Glu1702Ala) c.5134-444A>C (n.5134-444A>C) c.1922A>C (p.Glu641Ala) c.1526A>C (p.Glu509Ala) n.5484A>C | |
| 7 | g.152183039C>A | CA370100059 | KMT2C | c.1919G>T c.5200G>T (p.Glu1734Ter) c.576-445G>T c.2548G>T (p.Glu850Ter) c.822G>T c.*1293G>T (n.*1293G>T) c.4975G>T (p.Glu1659Ter) c.2596G>T (p.Glu866Ter) c.3898G>T (p.Glu1300Ter) n.125G>T n.2911G>T c.*2720G>T (n.*2720G>T) c.5251G>T (p.Glu1751Ter) c.5248G>T (p.Glu1750Ter) c.5203G>T (p.Glu1735Ter) c.5131G>T (p.Glu1711Ter) c.5098G>T (p.Glu1700Ter) c.4336G>T (p.Glu1446Ter) c.2797G>T (p.Glu933Ter) n.5459G>T c.5218G>T (p.Glu1740Ter) c.5104G>T (p.Glu1702Ter) c.5134-445G>T (n.5134-445G>T) c.1921G>T (p.Glu641Ter) c.1525G>T (p.Glu509Ter) n.5483G>T | |
| 7 | g.152183039C>G | CA370100058 | KMT2C | c.1919G>C c.5200G>C (p.Glu1734Gln) c.576-445G>C c.2548G>C (p.Glu850Gln) c.822G>C c.*1293G>C (n.*1293G>C) c.4975G>C (p.Glu1659Gln) c.2596G>C (p.Glu866Gln) c.3898G>C (p.Glu1300Gln) n.125G>C n.2911G>C c.*2720G>C (n.*2720G>C) c.5251G>C (p.Glu1751Gln) c.5248G>C (p.Glu1750Gln) c.5203G>C (p.Glu1735Gln) c.5131G>C (p.Glu1711Gln) c.5098G>C (p.Glu1700Gln) c.4336G>C (p.Glu1446Gln) c.2797G>C (p.Glu933Gln) n.5459G>C c.5218G>C (p.Glu1740Gln) c.5104G>C (p.Glu1702Gln) c.5134-445G>C (n.5134-445G>C) c.1921G>C (p.Glu641Gln) c.1525G>C (p.Glu509Gln) n.5483G>C | dbSNP |
| 7 | g.152183039C>T | CA370100060 | KMT2C | c.1919G>A c.5200G>A (p.Glu1734Lys) c.576-445G>A c.2548G>A (p.Glu850Lys) c.822G>A c.*1293G>A (n.*1293G>A) c.4975G>A (p.Glu1659Lys) c.2596G>A (p.Glu866Lys) c.3898G>A (p.Glu1300Lys) n.125G>A n.2911G>A c.*2720G>A (n.*2720G>A) c.5251G>A (p.Glu1751Lys) c.5248G>A (p.Glu1750Lys) c.5203G>A (p.Glu1735Lys) c.5131G>A (p.Glu1711Lys) c.5098G>A (p.Glu1700Lys) c.4336G>A (p.Glu1446Lys) c.2797G>A (p.Glu933Lys) n.5459G>A c.5218G>A (p.Glu1740Lys) c.5104G>A (p.Glu1702Lys) c.5134-445G>A (n.5134-445G>A) c.1921G>A (p.Glu641Lys) c.1525G>A (p.Glu509Lys) n.5483G>A | dbSNP |
| 7 | g.152183040C>A | CA458689519 | KMT2C | c.1918G>T c.5199G>T (p.Ser1733=) c.576-446G>T c.2547G>T (p.Ser849=) c.821G>T c.*1292G>T (n.*1292G>T) c.4974G>T (p.Ser1658=) c.2595G>T (p.Ser865=) c.3897G>T (p.Ser1299=) n.124G>T n.2910G>T c.*2719G>T (n.*2719G>T) c.5250G>T (p.Ser1750=) c.5247G>T (p.Ser1749=) c.5202G>T (p.Ser1734=) c.5130G>T (p.Ser1710=) c.5097G>T (p.Ser1699=) c.4335G>T (p.Ser1445=) c.2796G>T (p.Ser932=) n.5458G>T c.5217G>T (p.Ser1739=) c.5103G>T (p.Ser1701=) c.5134-446G>T (n.5134-446G>T) c.1920G>T (p.Ser640=) c.1524G>T (p.Ser508=) n.5482G>T | dbSNP |
| 7 | g.152183040C= | CA1753025711 | KMT2C | c.1918G= c.5199G= (p.Ser1733=) c.576-446G= c.2547G= (p.Ser849=) c.821G= c.*1292G= (n.*1292G=) c.4974G= (p.Ser1658=) c.2595G= (p.Ser865=) c.3897G= (p.Ser1299=) n.124G= n.2910G= c.*2719G= (n.*2719G=) c.5250G= (p.Ser1750=) c.5247G= (p.Ser1749=) c.5202G= (p.Ser1734=) c.5130G= (p.Ser1710=) c.5097G= (p.Ser1699=) c.4335G= (p.Ser1445=) c.2796G= (p.Ser932=) n.5458G= c.5217G= (p.Ser1739=) c.5103G= (p.Ser1701=) c.5134-446G= (n.5134-446G=) c.1920G= (p.Ser640=) c.1524G= (p.Ser508=) n.5482G= | |
| 7 | g.152183040C>G | CA458689520 | KMT2C | c.1918G>C c.5199G>C (p.Ser1733=) c.576-446G>C c.2547G>C (p.Ser849=) c.821G>C c.*1292G>C (n.*1292G>C) c.4974G>C (p.Ser1658=) c.2595G>C (p.Ser865=) c.3897G>C (p.Ser1299=) n.124G>C n.2910G>C c.*2719G>C (n.*2719G>C) c.5250G>C (p.Ser1750=) c.5247G>C (p.Ser1749=) c.5202G>C (p.Ser1734=) c.5130G>C (p.Ser1710=) c.5097G>C (p.Ser1699=) c.4335G>C (p.Ser1445=) c.2796G>C (p.Ser932=) n.5458G>C c.5217G>C (p.Ser1739=) c.5103G>C (p.Ser1701=) c.5134-446G>C (n.5134-446G>C) c.1920G>C (p.Ser640=) c.1524G>C (p.Ser508=) n.5482G>C | dbSNP |
| 7 | g.152183040C>T | CA4580300 | KMT2C | c.1918G>A c.5199G>A (p.Ser1733=) c.576-446G>A c.2547G>A (p.Ser849=) c.821G>A c.*1292G>A (n.*1292G>A) c.4974G>A (p.Ser1658=) c.2595G>A (p.Ser865=) c.3897G>A (p.Ser1299=) n.124G>A n.2910G>A c.*2719G>A (n.*2719G>A) c.5250G>A (p.Ser1750=) c.5247G>A (p.Ser1749=) c.5202G>A (p.Ser1734=) c.5130G>A (p.Ser1710=) c.5097G>A (p.Ser1699=) c.4335G>A (p.Ser1445=) c.2796G>A (p.Ser932=) n.5458G>A c.5217G>A (p.Ser1739=) c.5103G>A (p.Ser1701=) c.5134-446G>A (n.5134-446G>A) c.1920G>A (p.Ser640=) c.1524G>A (p.Ser508=) n.5482G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 7 | g.152183041G>A | CA4580301 | KMT2C | c.1917C>T c.5198C>T (p.Ser1733Leu) c.576-447C>T c.2546C>T (p.Ser849Leu) c.820C>T c.*1291C>T (n.*1291C>T) c.4973C>T (p.Ser1658Leu) c.2594C>T (p.Ser865Leu) c.3896C>T (p.Ser1299Leu) n.123C>T n.2909C>T c.*2718C>T (n.*2718C>T) c.5249C>T (p.Ser1750Leu) c.5246C>T (p.Ser1749Leu) c.5201C>T (p.Ser1734Leu) c.5129C>T (p.Ser1710Leu) c.5096C>T (p.Ser1699Leu) c.4334C>T (p.Ser1445Leu) c.2795C>T (p.Ser932Leu) n.5457C>T c.5216C>T (p.Ser1739Leu) c.5102C>T (p.Ser1701Leu) c.5134-447C>T (n.5134-447C>T) c.1919C>T (p.Ser640Leu) c.1523C>T (p.Ser508Leu) n.5481C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.152183041G>C | CA370100061 | KMT2C | c.1917C>G c.5198C>G (p.Ser1733Trp) c.576-447C>G c.2546C>G (p.Ser849Trp) c.820C>G c.*1291C>G (n.*1291C>G) c.4973C>G (p.Ser1658Trp) c.2594C>G (p.Ser865Trp) c.3896C>G (p.Ser1299Trp) n.123C>G n.2909C>G c.*2718C>G (n.*2718C>G) c.5249C>G (p.Ser1750Trp) c.5246C>G (p.Ser1749Trp) c.5201C>G (p.Ser1734Trp) c.5129C>G (p.Ser1710Trp) c.5096C>G (p.Ser1699Trp) c.4334C>G (p.Ser1445Trp) c.2795C>G (p.Ser932Trp) n.5457C>G c.5216C>G (p.Ser1739Trp) c.5102C>G (p.Ser1701Trp) c.5134-447C>G (n.5134-447C>G) c.1919C>G (p.Ser640Trp) c.1523C>G (p.Ser508Trp) n.5481C>G | dbSNP |
| 7 | g.152183041G= | CA1753025716 | KMT2C | c.1917C= c.5198C= (p.Ser1733=) c.576-447C= c.2546C= (p.Ser849=) c.820C= c.*1291C= (n.*1291C=) c.4973C= (p.Ser1658=) c.2594C= (p.Ser865=) c.3896C= (p.Ser1299=) n.123C= n.2909C= c.*2718C= (n.*2718C=) c.5249C= (p.Ser1750=) c.5246C= (p.Ser1749=) c.5201C= (p.Ser1734=) c.5129C= (p.Ser1710=) c.5096C= (p.Ser1699=) c.4334C= (p.Ser1445=) c.2795C= (p.Ser932=) n.5457C= c.5216C= (p.Ser1739=) c.5102C= (p.Ser1701=) c.5134-447C= (n.5134-447C=) c.1919C= (p.Ser640=) c.1523C= (p.Ser508=) n.5481C= | |
| 7 | g.152183041G>T | CA370100062 | KMT2C | c.1917C>A c.5198C>A (p.Ser1733Ter) c.576-447C>A c.2546C>A (p.Ser849Ter) c.820C>A c.*1291C>A (n.*1291C>A) c.4973C>A (p.Ser1658Ter) c.2594C>A (p.Ser865Ter) c.3896C>A (p.Ser1299Ter) n.123C>A n.2909C>A c.*2718C>A (n.*2718C>A) c.5249C>A (p.Ser1750Ter) c.5246C>A (p.Ser1749Ter) c.5201C>A (p.Ser1734Ter) c.5129C>A (p.Ser1710Ter) c.5096C>A (p.Ser1699Ter) c.4334C>A (p.Ser1445Ter) c.2795C>A (p.Ser932Ter) n.5457C>A c.5216C>A (p.Ser1739Ter) c.5102C>A (p.Ser1701Ter) c.5134-447C>A (n.5134-447C>A) c.1919C>A (p.Ser640Ter) c.1523C>A (p.Ser508Ter) n.5481C>A | dbSNP |
| 7 | g.152183042A>C | CA370100063 | KMT2C | c.1916T>G c.5197T>G (p.Ser1733Ala) c.576-448T>G c.2545T>G (p.Ser849Ala) c.819T>G c.*1290T>G (n.*1290T>G) c.4972T>G (p.Ser1658Ala) c.2593T>G (p.Ser865Ala) c.3895T>G (p.Ser1299Ala) n.122T>G n.2908T>G c.*2717T>G (n.*2717T>G) c.5248T>G (p.Ser1750Ala) c.5245T>G (p.Ser1749Ala) c.5200T>G (p.Ser1734Ala) c.5128T>G (p.Ser1710Ala) c.5095T>G (p.Ser1699Ala) c.4333T>G (p.Ser1445Ala) c.2794T>G (p.Ser932Ala) n.5456T>G c.5215T>G (p.Ser1739Ala) c.5101T>G (p.Ser1701Ala) c.5134-448T>G (n.5134-448T>G) c.1918T>G (p.Ser640Ala) c.1522T>G (p.Ser508Ala) n.5480T>G | |
| 7 | g.152183042A>G | CA370100065 | KMT2C | c.1916T>C c.5197T>C (p.Ser1733Pro) c.576-448T>C c.2545T>C (p.Ser849Pro) c.819T>C c.*1290T>C (n.*1290T>C) c.4972T>C (p.Ser1658Pro) c.2593T>C (p.Ser865Pro) c.3895T>C (p.Ser1299Pro) n.122T>C n.2908T>C c.*2717T>C (n.*2717T>C) c.5248T>C (p.Ser1750Pro) c.5245T>C (p.Ser1749Pro) c.5200T>C (p.Ser1734Pro) c.5128T>C (p.Ser1710Pro) c.5095T>C (p.Ser1699Pro) c.4333T>C (p.Ser1445Pro) c.2794T>C (p.Ser932Pro) n.5456T>C c.5215T>C (p.Ser1739Pro) c.5101T>C (p.Ser1701Pro) c.5134-448T>C (n.5134-448T>C) c.1918T>C (p.Ser640Pro) c.1522T>C (p.Ser508Pro) n.5480T>C | |
| 7 | g.152183042A>T | CA370100064 | KMT2C | c.1916T>A c.5197T>A (p.Ser1733Thr) c.576-448T>A c.2545T>A (p.Ser849Thr) c.819T>A c.*1290T>A (n.*1290T>A) c.4972T>A (p.Ser1658Thr) c.2593T>A (p.Ser865Thr) c.3895T>A (p.Ser1299Thr) n.122T>A n.2908T>A c.*2717T>A (n.*2717T>A) c.5248T>A (p.Ser1750Thr) c.5245T>A (p.Ser1749Thr) c.5200T>A (p.Ser1734Thr) c.5128T>A (p.Ser1710Thr) c.5095T>A (p.Ser1699Thr) c.4333T>A (p.Ser1445Thr) c.2794T>A (p.Ser932Thr) n.5456T>A c.5215T>A (p.Ser1739Thr) c.5101T>A (p.Ser1701Thr) c.5134-448T>A (n.5134-448T>A) c.1918T>A (p.Ser640Thr) c.1522T>A (p.Ser508Thr) n.5480T>A | dbSNP |
| 7 | g.152183043A>C | CA370100066 | KMT2C | c.1915T>G c.5196T>G (p.Asp1732Glu) c.576-449T>G c.2544T>G (p.Asp848Glu) c.818T>G c.*1289T>G (n.*1289T>G) c.4971T>G (p.Asp1657Glu) c.2592T>G (p.Asp864Glu) c.3894T>G (p.Asp1298Glu) n.121T>G n.2907T>G c.*2716T>G (n.*2716T>G) c.5247T>G (p.Asp1749Glu) c.5244T>G (p.Asp1748Glu) c.5199T>G (p.Asp1733Glu) c.5127T>G (p.Asp1709Glu) c.5094T>G (p.Asp1698Glu) c.4332T>G (p.Asp1444Glu) c.2793T>G (p.Asp931Glu) n.5455T>G c.5214T>G (p.Asp1738Glu) c.5100T>G (p.Asp1700Glu) c.5134-449T>G (n.5134-449T>G) c.1917T>G (p.Asp639Glu) c.1521T>G (p.Asp507Glu) n.5479T>G | |
| 7 | g.152183043A>G | CA458689532 | KMT2C | c.1915T>C c.5196T>C (p.Asp1732=) c.576-449T>C c.2544T>C (p.Asp848=) c.818T>C c.*1289T>C (n.*1289T>C) c.4971T>C (p.Asp1657=) c.2592T>C (p.Asp864=) c.3894T>C (p.Asp1298=) n.121T>C n.2907T>C c.*2716T>C (n.*2716T>C) c.5247T>C (p.Asp1749=) c.5244T>C (p.Asp1748=) c.5199T>C (p.Asp1733=) c.5127T>C (p.Asp1709=) c.5094T>C (p.Asp1698=) c.4332T>C (p.Asp1444=) c.2793T>C (p.Asp931=) n.5455T>C c.5214T>C (p.Asp1738=) c.5100T>C (p.Asp1700=) c.5134-449T>C (n.5134-449T>C) c.1917T>C (p.Asp639=) c.1521T>C (p.Asp507=) n.5479T>C | |
| 7 | g.152183043A>T | CA370100067 | KMT2C | c.1915T>A c.5196T>A (p.Asp1732Glu) c.576-449T>A c.2544T>A (p.Asp848Glu) c.818T>A c.*1289T>A (n.*1289T>A) c.4971T>A (p.Asp1657Glu) c.2592T>A (p.Asp864Glu) c.3894T>A (p.Asp1298Glu) n.121T>A n.2907T>A c.*2716T>A (n.*2716T>A) c.5247T>A (p.Asp1749Glu) c.5244T>A (p.Asp1748Glu) c.5199T>A (p.Asp1733Glu) c.5127T>A (p.Asp1709Glu) c.5094T>A (p.Asp1698Glu) c.4332T>A (p.Asp1444Glu) c.2793T>A (p.Asp931Glu) n.5455T>A c.5214T>A (p.Asp1738Glu) c.5100T>A (p.Asp1700Glu) c.5134-449T>A (n.5134-449T>A) c.1917T>A (p.Asp639Glu) c.1521T>A (p.Asp507Glu) n.5479T>A | dbSNP |
| 7 | g.152183044T>A | CA370100068 | KMT2C | c.1914A>T c.5195A>T (p.Asp1732Val) c.576-450A>T c.2543A>T (p.Asp848Val) c.817A>T c.*1288A>T (n.*1288A>T) c.4970A>T (p.Asp1657Val) c.2591A>T (p.Asp864Val) c.3893A>T (p.Asp1298Val) n.120A>T n.2906A>T c.*2715A>T (n.*2715A>T) c.5246A>T (p.Asp1749Val) c.5243A>T (p.Asp1748Val) c.5198A>T (p.Asp1733Val) c.5126A>T (p.Asp1709Val) c.5093A>T (p.Asp1698Val) c.4331A>T (p.Asp1444Val) c.2792A>T (p.Asp931Val) n.5454A>T c.5213A>T (p.Asp1738Val) c.5099A>T (p.Asp1700Val) c.5134-450A>T (n.5134-450A>T) c.1916A>T (p.Asp639Val) c.1520A>T (p.Asp507Val) n.5478A>T | dbSNP |
| 7 | g.152183044T>C | CA370100070 | KMT2C | c.1914A>G c.5195A>G (p.Asp1732Gly) c.576-450A>G c.2543A>G (p.Asp848Gly) c.817A>G c.*1288A>G (n.*1288A>G) c.4970A>G (p.Asp1657Gly) c.2591A>G (p.Asp864Gly) c.3893A>G (p.Asp1298Gly) n.120A>G n.2906A>G c.*2715A>G (n.*2715A>G) c.5246A>G (p.Asp1749Gly) c.5243A>G (p.Asp1748Gly) c.5198A>G (p.Asp1733Gly) c.5126A>G (p.Asp1709Gly) c.5093A>G (p.Asp1698Gly) c.4331A>G (p.Asp1444Gly) c.2792A>G (p.Asp931Gly) n.5454A>G c.5213A>G (p.Asp1738Gly) c.5099A>G (p.Asp1700Gly) c.5134-450A>G (n.5134-450A>G) c.1916A>G (p.Asp639Gly) c.1520A>G (p.Asp507Gly) n.5478A>G | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.152183044T>G | CA370100069 | KMT2C | c.1914A>C c.5195A>C (p.Asp1732Ala) c.576-450A>C c.2543A>C (p.Asp848Ala) c.817A>C c.*1288A>C (n.*1288A>C) c.4970A>C (p.Asp1657Ala) c.2591A>C (p.Asp864Ala) c.3893A>C (p.Asp1298Ala) n.120A>C n.2906A>C c.*2715A>C (n.*2715A>C) c.5246A>C (p.Asp1749Ala) c.5243A>C (p.Asp1748Ala) c.5198A>C (p.Asp1733Ala) c.5126A>C (p.Asp1709Ala) c.5093A>C (p.Asp1698Ala) c.4331A>C (p.Asp1444Ala) c.2792A>C (p.Asp931Ala) n.5454A>C c.5213A>C (p.Asp1738Ala) c.5099A>C (p.Asp1700Ala) c.5134-450A>C (n.5134-450A>C) c.1916A>C (p.Asp639Ala) c.1520A>C (p.Asp507Ala) n.5478A>C | dbSNP |
| 7 | g.152183044T= | CA1753025721 | KMT2C | c.1914A= c.5195A= (p.Asp1732=) c.576-450A= c.2543A= (p.Asp848=) c.817A= c.*1288A= (n.*1288A=) c.4970A= (p.Asp1657=) c.2591A= (p.Asp864=) c.3893A= (p.Asp1298=) n.120A= n.2906A= c.*2715A= (n.*2715A=) c.5246A= (p.Asp1749=) c.5243A= (p.Asp1748=) c.5198A= (p.Asp1733=) c.5126A= (p.Asp1709=) c.5093A= (p.Asp1698=) c.4331A= (p.Asp1444=) c.2792A= (p.Asp931=) n.5454A= c.5213A= (p.Asp1738=) c.5099A= (p.Asp1700=) c.5134-450A= (n.5134-450A=) c.1916A= (p.Asp639=) c.1520A= (p.Asp507=) n.5478A= | |
| 7 | g.152183045C>A | CA370100071 | KMT2C | c.1913G>T c.5194G>T (p.Asp1732Tyr) c.576-451G>T c.2542G>T (p.Asp848Tyr) c.816G>T c.*1287G>T (n.*1287G>T) c.4969G>T (p.Asp1657Tyr) c.2590G>T (p.Asp864Tyr) c.3892G>T (p.Asp1298Tyr) n.119G>T n.2905G>T c.*2714G>T (n.*2714G>T) c.5245G>T (p.Asp1749Tyr) c.5242G>T (p.Asp1748Tyr) c.5197G>T (p.Asp1733Tyr) c.5125G>T (p.Asp1709Tyr) c.5092G>T (p.Asp1698Tyr) c.4330G>T (p.Asp1444Tyr) c.2791G>T (p.Asp931Tyr) n.5453G>T c.5212G>T (p.Asp1738Tyr) c.5098G>T (p.Asp1700Tyr) c.5134-451G>T (n.5134-451G>T) c.1915G>T (p.Asp639Tyr) c.1519G>T (p.Asp507Tyr) n.5477G>T | dbSNP |
| 7 | g.152183045C>G | CA370100073 | KMT2C | c.1913G>C c.5194G>C (p.Asp1732His) c.576-451G>C c.2542G>C (p.Asp848His) c.816G>C c.*1287G>C (n.*1287G>C) c.4969G>C (p.Asp1657His) c.2590G>C (p.Asp864His) c.3892G>C (p.Asp1298His) n.119G>C n.2905G>C c.*2714G>C (n.*2714G>C) c.5245G>C (p.Asp1749His) c.5242G>C (p.Asp1748His) c.5197G>C (p.Asp1733His) c.5125G>C (p.Asp1709His) c.5092G>C (p.Asp1698His) c.4330G>C (p.Asp1444His) c.2791G>C (p.Asp931His) n.5453G>C c.5212G>C (p.Asp1738His) c.5098G>C (p.Asp1700His) c.5134-451G>C (n.5134-451G>C) c.1915G>C (p.Asp639His) c.1519G>C (p.Asp507His) n.5477G>C | dbSNP |
| 7 | g.152183045C>T | CA370100072 | KMT2C | c.1913G>A c.5194G>A (p.Asp1732Asn) c.576-451G>A c.2542G>A (p.Asp848Asn) c.816G>A c.*1287G>A (n.*1287G>A) c.4969G>A (p.Asp1657Asn) c.2590G>A (p.Asp864Asn) c.3892G>A (p.Asp1298Asn) n.119G>A n.2905G>A c.*2714G>A (n.*2714G>A) c.5245G>A (p.Asp1749Asn) c.5242G>A (p.Asp1748Asn) c.5197G>A (p.Asp1733Asn) c.5125G>A (p.Asp1709Asn) c.5092G>A (p.Asp1698Asn) c.4330G>A (p.Asp1444Asn) c.2791G>A (p.Asp931Asn) n.5453G>A c.5212G>A (p.Asp1738Asn) c.5098G>A (p.Asp1700Asn) c.5134-451G>A (n.5134-451G>A) c.1915G>A (p.Asp639Asn) c.1519G>A (p.Asp507Asn) n.5477G>A | dbSNP |
| 7 | g.152183046A>C | CA370100074 | KMT2C | c.1912T>G c.5193T>G (p.Ile1731Met) c.576-452T>G c.2541T>G (p.Ile847Met) c.815T>G c.*1286T>G (n.*1286T>G) c.4968T>G (p.Ile1656Met) c.2589T>G (p.Ile863Met) c.3891T>G (p.Ile1297Met) n.118T>G n.2904T>G c.*2713T>G (n.*2713T>G) c.5244T>G (p.Ile1748Met) c.5241T>G (p.Ile1747Met) c.5196T>G (p.Ile1732Met) c.5124T>G (p.Ile1708Met) c.5091T>G (p.Ile1697Met) c.4329T>G (p.Ile1443Met) c.2790T>G (p.Ile930Met) n.5452T>G c.5211T>G (p.Ile1737Met) c.5097T>G (p.Ile1699Met) c.5134-452T>G (n.5134-452T>G) c.1914T>G (p.Ile638Met) c.1518T>G (p.Ile506Met) n.5476T>G | |
| 7 | g.152183046A>G | CA458689542 | KMT2C | c.1912T>C c.5193T>C (p.Ile1731=) c.576-452T>C c.2541T>C (p.Ile847=) c.815T>C c.*1286T>C (n.*1286T>C) c.4968T>C (p.Ile1656=) c.2589T>C (p.Ile863=) c.3891T>C (p.Ile1297=) n.118T>C n.2904T>C c.*2713T>C (n.*2713T>C) c.5244T>C (p.Ile1748=) c.5241T>C (p.Ile1747=) c.5196T>C (p.Ile1732=) c.5124T>C (p.Ile1708=) c.5091T>C (p.Ile1697=) c.4329T>C (p.Ile1443=) c.2790T>C (p.Ile930=) n.5452T>C c.5211T>C (p.Ile1737=) c.5097T>C (p.Ile1699=) c.5134-452T>C (n.5134-452T>C) c.1914T>C (p.Ile638=) c.1518T>C (p.Ile506=) n.5476T>C | dbSNP |
| 7 | g.152183046A>T | CA458689544 | KMT2C | c.1912T>A c.5193T>A (p.Ile1731=) c.576-452T>A c.2541T>A (p.Ile847=) c.815T>A c.*1286T>A (n.*1286T>A) c.4968T>A (p.Ile1656=) c.2589T>A (p.Ile863=) c.3891T>A (p.Ile1297=) n.118T>A n.2904T>A c.*2713T>A (n.*2713T>A) c.5244T>A (p.Ile1748=) c.5241T>A (p.Ile1747=) c.5196T>A (p.Ile1732=) c.5124T>A (p.Ile1708=) c.5091T>A (p.Ile1697=) c.4329T>A (p.Ile1443=) c.2790T>A (p.Ile930=) n.5452T>A c.5211T>A (p.Ile1737=) c.5097T>A (p.Ile1699=) c.5134-452T>A (n.5134-452T>A) c.1914T>A (p.Ile638=) c.1518T>A (p.Ile506=) n.5476T>A | dbSNP |
| 7 | g.152183047A>C | CA370100075 | KMT2C | c.1911T>G c.5192T>G (p.Ile1731Ser) c.576-453T>G c.2540T>G (p.Ile847Ser) c.814T>G c.*1285T>G (n.*1285T>G) c.4967T>G (p.Ile1656Ser) c.2588T>G (p.Ile863Ser) c.3890T>G (p.Ile1297Ser) n.117T>G n.2903T>G c.*2712T>G (n.*2712T>G) c.5243T>G (p.Ile1748Ser) c.5240T>G (p.Ile1747Ser) c.5195T>G (p.Ile1732Ser) c.5123T>G (p.Ile1708Ser) c.5090T>G (p.Ile1697Ser) c.4328T>G (p.Ile1443Ser) c.2789T>G (p.Ile930Ser) n.5451T>G c.5210T>G (p.Ile1737Ser) c.5096T>G (p.Ile1699Ser) c.5134-453T>G (n.5134-453T>G) c.1913T>G (p.Ile638Ser) c.1517T>G (p.Ile506Ser) n.5475T>G | |
| 7 | g.152183047A>G | CA370100076 | KMT2C | c.1911T>C c.5192T>C (p.Ile1731Thr) c.576-453T>C c.2540T>C (p.Ile847Thr) c.814T>C c.*1285T>C (n.*1285T>C) c.4967T>C (p.Ile1656Thr) c.2588T>C (p.Ile863Thr) c.3890T>C (p.Ile1297Thr) n.117T>C n.2903T>C c.*2712T>C (n.*2712T>C) c.5243T>C (p.Ile1748Thr) c.5240T>C (p.Ile1747Thr) c.5195T>C (p.Ile1732Thr) c.5123T>C (p.Ile1708Thr) c.5090T>C (p.Ile1697Thr) c.4328T>C (p.Ile1443Thr) c.2789T>C (p.Ile930Thr) n.5451T>C c.5210T>C (p.Ile1737Thr) c.5096T>C (p.Ile1699Thr) c.5134-453T>C (n.5134-453T>C) c.1913T>C (p.Ile638Thr) c.1517T>C (p.Ile506Thr) n.5475T>C | |
| 7 | g.152183047A>T | CA370100077 | KMT2C | c.1911T>A c.5192T>A (p.Ile1731Asn) c.576-453T>A c.2540T>A (p.Ile847Asn) c.814T>A c.*1285T>A (n.*1285T>A) c.4967T>A (p.Ile1656Asn) c.2588T>A (p.Ile863Asn) c.3890T>A (p.Ile1297Asn) n.117T>A n.2903T>A c.*2712T>A (n.*2712T>A) c.5243T>A (p.Ile1748Asn) c.5240T>A (p.Ile1747Asn) c.5195T>A (p.Ile1732Asn) c.5123T>A (p.Ile1708Asn) c.5090T>A (p.Ile1697Asn) c.4328T>A (p.Ile1443Asn) c.2789T>A (p.Ile930Asn) n.5451T>A c.5210T>A (p.Ile1737Asn) c.5096T>A (p.Ile1699Asn) c.5134-453T>A (n.5134-453T>A) c.1913T>A (p.Ile638Asn) c.1517T>A (p.Ile506Asn) n.5475T>A | |
| 7 | g.152183048T>A | CA370100078 | KMT2C | c.1910A>T c.5191A>T (p.Ile1731Phe) c.576-454A>T c.2539A>T (p.Ile847Phe) c.813A>T c.*1284A>T (n.*1284A>T) c.4966A>T (p.Ile1656Phe) c.2587A>T (p.Ile863Phe) c.3889A>T (p.Ile1297Phe) n.116A>T n.2902A>T c.*2711A>T (n.*2711A>T) c.5242A>T (p.Ile1748Phe) c.5239A>T (p.Ile1747Phe) c.5194A>T (p.Ile1732Phe) c.5122A>T (p.Ile1708Phe) c.5089A>T (p.Ile1697Phe) c.4327A>T (p.Ile1443Phe) c.2788A>T (p.Ile930Phe) n.5450A>T c.5209A>T (p.Ile1737Phe) c.5095A>T (p.Ile1699Phe) c.5134-454A>T (n.5134-454A>T) c.1912A>T (p.Ile638Phe) c.1516A>T (p.Ile506Phe) n.5474A>T | dbSNP |
| 7 | g.152183048T>C | CA4580302 | KMT2C | c.1910A>G c.5191A>G (p.Ile1731Val) c.576-454A>G c.2539A>G (p.Ile847Val) c.813A>G c.*1284A>G (n.*1284A>G) c.4966A>G (p.Ile1656Val) c.2587A>G (p.Ile863Val) c.3889A>G (p.Ile1297Val) n.116A>G n.2902A>G c.*2711A>G (n.*2711A>G) c.5242A>G (p.Ile1748Val) c.5239A>G (p.Ile1747Val) c.5194A>G (p.Ile1732Val) c.5122A>G (p.Ile1708Val) c.5089A>G (p.Ile1697Val) c.4327A>G (p.Ile1443Val) c.2788A>G (p.Ile930Val) n.5450A>G c.5209A>G (p.Ile1737Val) c.5095A>G (p.Ile1699Val) c.5134-454A>G (n.5134-454A>G) c.1912A>G (p.Ile638Val) c.1516A>G (p.Ile506Val) n.5474A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.152183048T>G | CA370100079 | KMT2C | c.1910A>C c.5191A>C (p.Ile1731Leu) c.576-454A>C c.2539A>C (p.Ile847Leu) c.813A>C c.*1284A>C (n.*1284A>C) c.4966A>C (p.Ile1656Leu) c.2587A>C (p.Ile863Leu) c.3889A>C (p.Ile1297Leu) n.116A>C n.2902A>C c.*2711A>C (n.*2711A>C) c.5242A>C (p.Ile1748Leu) c.5239A>C (p.Ile1747Leu) c.5194A>C (p.Ile1732Leu) c.5122A>C (p.Ile1708Leu) c.5089A>C (p.Ile1697Leu) c.4327A>C (p.Ile1443Leu) c.2788A>C (p.Ile930Leu) n.5450A>C c.5209A>C (p.Ile1737Leu) c.5095A>C (p.Ile1699Leu) c.5134-454A>C (n.5134-454A>C) c.1912A>C (p.Ile638Leu) c.1516A>C (p.Ile506Leu) n.5474A>C | |
| 7 | g.152183048T= | CA1753025727 | KMT2C | c.1910A= c.5191A= (p.Ile1731=) c.576-454A= c.2539A= (p.Ile847=) c.813A= c.*1284A= (n.*1284A=) c.4966A= (p.Ile1656=) c.2587A= (p.Ile863=) c.3889A= (p.Ile1297=) n.116A= n.2902A= c.*2711A= (n.*2711A=) c.5242A= (p.Ile1748=) c.5239A= (p.Ile1747=) c.5194A= (p.Ile1732=) c.5122A= (p.Ile1708=) c.5089A= (p.Ile1697=) c.4327A= (p.Ile1443=) c.2788A= (p.Ile930=) n.5450A= c.5209A= (p.Ile1737=) c.5095A= (p.Ile1699=) c.5134-454A= (n.5134-454A=) c.1912A= (p.Ile638=) c.1516A= (p.Ile506=) n.5474A= | |
| 7 | g.152183048_152183049insG | CA578740943 | KMT2C | c.1909_1910insC c.5190_5191insC (p.Ile1731HisfsTer2) c.576-455_576-454insC c.2538_2539insC (p.Ile847HisfsTer2) c.812_813insC c.*1283_*1284insC (n.*1283_*1284insC) c.4965_4966insC (p.Ile1656HisfsTer2) c.2586_2587insC (p.Ile863HisfsTer2) c.3888_3889insC (p.Ile1297HisfsTer2) n.115_116insC n.2901_2902insC c.*2710_*2711insC (n.*2710_*2711insC) c.5241_5242insC (p.Ile1748HisfsTer2) c.5238_5239insC (p.Ile1747HisfsTer2) c.5193_5194insC (p.Ile1732HisfsTer2) c.5121_5122insC (p.Ile1708HisfsTer2) c.5088_5089insC (p.Ile1697HisfsTer2) c.4326_4327insC (p.Ile1443HisfsTer2) c.2787_2788insC (p.Ile930HisfsTer2) n.5449_5450insC c.5208_5209insC (p.Ile1737HisfsTer2) c.5094_5095insC (p.Ile1699HisfsTer2) c.5134-455_5134-454insC (n.5134-455_5134-454insC) c.1911_1912insC (p.Ile638HisfsTer2) c.1515_1516insC (p.Ile506HisfsTer2) n.5473_5474insC | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.152183049A>C | CA458689555 | KMT2C | c.1909T>G c.5190T>G (p.Arg1730=) c.576-455T>G c.2538T>G (p.Arg846=) c.812T>G c.*1283T>G (n.*1283T>G) c.4965T>G (p.Arg1655=) c.2586T>G (p.Arg862=) c.3888T>G (p.Arg1296=) n.115T>G n.2901T>G c.*2710T>G (n.*2710T>G) c.5241T>G (p.Arg1747=) c.5238T>G (p.Arg1746=) c.5193T>G (p.Arg1731=) c.5121T>G (p.Arg1707=) c.5088T>G (p.Arg1696=) c.4326T>G (p.Arg1442=) c.2787T>G (p.Arg929=) n.5449T>G c.5208T>G (p.Arg1736=) c.5094T>G (p.Arg1698=) c.5134-455T>G (n.5134-455T>G) c.1911T>G (p.Arg637=) c.1515T>G (p.Arg505=) n.5473T>G | |
| 7 | g.152183049A>G | CA458689556 | KMT2C | c.1909T>C c.5190T>C (p.Arg1730=) c.576-455T>C c.2538T>C (p.Arg846=) c.812T>C c.*1283T>C (n.*1283T>C) c.4965T>C (p.Arg1655=) c.2586T>C (p.Arg862=) c.3888T>C (p.Arg1296=) n.115T>C n.2901T>C c.*2710T>C (n.*2710T>C) c.5241T>C (p.Arg1747=) c.5238T>C (p.Arg1746=) c.5193T>C (p.Arg1731=) c.5121T>C (p.Arg1707=) c.5088T>C (p.Arg1696=) c.4326T>C (p.Arg1442=) c.2787T>C (p.Arg929=) n.5449T>C c.5208T>C (p.Arg1736=) c.5094T>C (p.Arg1698=) c.5134-455T>C (n.5134-455T>C) c.1911T>C (p.Arg637=) c.1515T>C (p.Arg505=) n.5473T>C | dbSNP |
| 7 | g.152183049A>T | CA458689553 | KMT2C | c.1909T>A c.5190T>A (p.Arg1730=) c.576-455T>A c.2538T>A (p.Arg846=) c.812T>A c.*1283T>A (n.*1283T>A) c.4965T>A (p.Arg1655=) c.2586T>A (p.Arg862=) c.3888T>A (p.Arg1296=) n.115T>A n.2901T>A c.*2710T>A (n.*2710T>A) c.5241T>A (p.Arg1747=) c.5238T>A (p.Arg1746=) c.5193T>A (p.Arg1731=) c.5121T>A (p.Arg1707=) c.5088T>A (p.Arg1696=) c.4326T>A (p.Arg1442=) c.2787T>A (p.Arg929=) n.5449T>A c.5208T>A (p.Arg1736=) c.5094T>A (p.Arg1698=) c.5134-455T>A (n.5134-455T>A) c.1911T>A (p.Arg637=) c.1515T>A (p.Arg505=) n.5473T>A | dbSNP |
| 7 | g.152183050C>A | CA370100080 | KMT2C | c.1908G>T c.5189G>T (p.Arg1730Leu) c.576-456G>T c.2537G>T (p.Arg846Leu) c.811G>T c.*1282G>T (n.*1282G>T) c.4964G>T (p.Arg1655Leu) c.2585G>T (p.Arg862Leu) c.3887G>T (p.Arg1296Leu) n.114G>T n.2900G>T c.*2709G>T (n.*2709G>T) c.5240G>T (p.Arg1747Leu) c.5237G>T (p.Arg1746Leu) c.5192G>T (p.Arg1731Leu) c.5120G>T (p.Arg1707Leu) c.5087G>T (p.Arg1696Leu) c.4325G>T (p.Arg1442Leu) c.2786G>T (p.Arg929Leu) n.5448G>T c.5207G>T (p.Arg1736Leu) c.5093G>T (p.Arg1698Leu) c.5134-456G>T (n.5134-456G>T) c.1910G>T (p.Arg637Leu) c.1514G>T (p.Arg505Leu) n.5472G>T | ClinVar dbSNP |
| 7 | g.152183050C= | CA1753025734 | KMT2C | c.1908G= c.5189G= (p.Arg1730=) c.576-456G= c.2537G= (p.Arg846=) c.811G= c.*1282G= (n.*1282G=) c.4964G= (p.Arg1655=) c.2585G= (p.Arg862=) c.3887G= (p.Arg1296=) n.114G= n.2900G= c.*2709G= (n.*2709G=) c.5240G= (p.Arg1747=) c.5237G= (p.Arg1746=) c.5192G= (p.Arg1731=) c.5120G= (p.Arg1707=) c.5087G= (p.Arg1696=) c.4325G= (p.Arg1442=) c.2786G= (p.Arg929=) n.5448G= c.5207G= (p.Arg1736=) c.5093G= (p.Arg1698=) c.5134-456G= (n.5134-456G=) c.1910G= (p.Arg637=) c.1514G= (p.Arg505=) n.5472G= | |
| 7 | g.152183050C>G | CA370100081 | KMT2C | c.1908G>C c.5189G>C (p.Arg1730Pro) c.576-456G>C c.2537G>C (p.Arg846Pro) c.811G>C c.*1282G>C (n.*1282G>C) c.4964G>C (p.Arg1655Pro) c.2585G>C (p.Arg862Pro) c.3887G>C (p.Arg1296Pro) n.114G>C n.2900G>C c.*2709G>C (n.*2709G>C) c.5240G>C (p.Arg1747Pro) c.5237G>C (p.Arg1746Pro) c.5192G>C (p.Arg1731Pro) c.5120G>C (p.Arg1707Pro) c.5087G>C (p.Arg1696Pro) c.4325G>C (p.Arg1442Pro) c.2786G>C (p.Arg929Pro) n.5448G>C c.5207G>C (p.Arg1736Pro) c.5093G>C (p.Arg1698Pro) c.5134-456G>C (n.5134-456G>C) c.1910G>C (p.Arg637Pro) c.1514G>C (p.Arg505Pro) n.5472G>C | dbSNP |
| 7 | g.152183050C>T | CA4580303 | KMT2C | c.1908G>A c.5189G>A (p.Arg1730His) c.576-456G>A c.2537G>A (p.Arg846His) c.811G>A c.*1282G>A (n.*1282G>A) c.4964G>A (p.Arg1655His) c.2585G>A (p.Arg862His) c.3887G>A (p.Arg1296His) n.114G>A n.2900G>A c.*2709G>A (n.*2709G>A) c.5240G>A (p.Arg1747His) c.5237G>A (p.Arg1746His) c.5192G>A (p.Arg1731His) c.5120G>A (p.Arg1707His) c.5087G>A (p.Arg1696His) c.4325G>A (p.Arg1442His) c.2786G>A (p.Arg929His) n.5448G>A c.5207G>A (p.Arg1736His) c.5093G>A (p.Arg1698His) c.5134-456G>A (n.5134-456G>A) c.1910G>A (p.Arg637His) c.1514G>A (p.Arg505His) n.5472G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.152183051G>A | CA169213517 | KMT2C | c.1907C>T c.5188C>T (p.Arg1730Cys) c.576-457C>T c.2536C>T (p.Arg846Cys) c.810C>T c.*1281C>T (n.*1281C>T) c.4963C>T (p.Arg1655Cys) c.2584C>T (p.Arg862Cys) c.3886C>T (p.Arg1296Cys) n.113C>T n.2899C>T c.*2708C>T (n.*2708C>T) c.5239C>T (p.Arg1747Cys) c.5236C>T (p.Arg1746Cys) c.5191C>T (p.Arg1731Cys) c.5119C>T (p.Arg1707Cys) c.5086C>T (p.Arg1696Cys) c.4324C>T (p.Arg1442Cys) c.2785C>T (p.Arg929Cys) n.5447C>T c.5206C>T (p.Arg1736Cys) c.5092C>T (p.Arg1698Cys) c.5134-457C>T (n.5134-457C>T) c.1909C>T (p.Arg637Cys) c.1513C>T (p.Arg505Cys) n.5471C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |