Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177295004G>ACA149218NSD1c.6763G>A (p.Ala2255Thr)
c.2278G>A (p.Ala760Thr)
n.7219G>A
n.2052G>A
c.7327G>A (p.Ala2443Thr)
n.7033G>A
c.7636G>A (p.Ala2546Thr)
c.6829G>A (p.Ala2277Thr)
c.3130G>A (p.Ala1044Thr)
c.7216G>A (p.Ala2406Thr)
c.6580G>A (p.Ala2194Thr)
c.3370G>A (p.Ala1124Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177295004G>CCA362333736NSD1c.6763G>C (p.Ala2255Pro)
c.2278G>C (p.Ala760Pro)
n.7219G>C
n.2052G>C
c.7327G>C (p.Ala2443Pro)
n.7033G>C
c.7636G>C (p.Ala2546Pro)
c.6829G>C (p.Ala2277Pro)
c.3130G>C (p.Ala1044Pro)
c.7216G>C (p.Ala2406Pro)
c.6580G>C (p.Ala2194Pro)
c.3370G>C (p.Ala1124Pro)
5g.177295004G=CA1603537302NSD1c.6763G= (p.Ala2255=)
c.2278G= (p.Ala760=)
n.7219G=
n.2052G=
c.7327G= (p.Ala2443=)
n.7033G=
c.7636G= (p.Ala2546=)
c.6829G= (p.Ala2277=)
c.3130G= (p.Ala1044=)
c.7216G= (p.Ala2406=)
c.6580G= (p.Ala2194=)
c.3370G= (p.Ala1124=)
5g.177295004G>TCA362333739NSD1c.6763G>T (p.Ala2255Ser)
c.2278G>T (p.Ala760Ser)
n.7219G>T
n.2052G>T
c.7327G>T (p.Ala2443Ser)
n.7033G>T
c.7636G>T (p.Ala2546Ser)
c.6829G>T (p.Ala2277Ser)
c.3130G>T (p.Ala1044Ser)
c.7216G>T (p.Ala2406Ser)
c.6580G>T (p.Ala2194Ser)
c.3370G>T (p.Ala1124Ser)
5g.177295005C>ACA362333743NSD1c.6764C>A (p.Ala2255Asp)
c.2279C>A (p.Ala760Asp)
n.7220C>A
n.2053C>A
c.7328C>A (p.Ala2443Asp)
n.7034C>A
c.7637C>A (p.Ala2546Asp)
c.6830C>A (p.Ala2277Asp)
c.3131C>A (p.Ala1044Asp)
c.7217C>A (p.Ala2406Asp)
c.6581C>A (p.Ala2194Asp)
c.3371C>A (p.Ala1124Asp)
5g.177295005C>GCA362333750NSD1c.6764C>G (p.Ala2255Gly)
c.2279C>G (p.Ala760Gly)
n.7220C>G
n.2053C>G
c.7328C>G (p.Ala2443Gly)
n.7034C>G
c.7637C>G (p.Ala2546Gly)
c.6830C>G (p.Ala2277Gly)
c.3131C>G (p.Ala1044Gly)
c.7217C>G (p.Ala2406Gly)
c.6581C>G (p.Ala2194Gly)
c.3371C>G (p.Ala1124Gly)
5g.177295005C>TCA362333746NSD1c.6764C>T (p.Ala2255Val)
c.2279C>T (p.Ala760Val)
n.7220C>T
n.2053C>T
c.7328C>T (p.Ala2443Val)
n.7034C>T
c.7637C>T (p.Ala2546Val)
c.6830C>T (p.Ala2277Val)
c.3131C>T (p.Ala1044Val)
c.7217C>T (p.Ala2406Val)
c.6581C>T (p.Ala2194Val)
c.3371C>T (p.Ala1124Val)
5g.177295006delCA2573139470NSD1c.6765del (p.Leu2257TyrfsTer?)
c.2280del (p.Leu762TyrfsTer?)
n.7221del
n.2054del
c.7329del (p.Leu2445TyrfsTer?)
n.7035del
c.7638del (p.Leu2548TyrfsTer?)
c.6831del (p.Leu2279TyrfsTer?)
c.3132del (p.Leu1046TyrfsTer?)
c.7218del (p.Leu2408TyrfsTer?)
c.6582del (p.Leu2196TyrfsTer?)
c.3372del (p.Leu1126TyrfsTer?)
 ClinVar dbSNP
5g.177295006C>ACA447962396NSD1c.6765C>A (p.Ala2255=)
c.2280C>A (p.Ala760=)
n.7221C>A
n.2054C>A
c.7329C>A (p.Ala2443=)
n.7035C>A
c.7638C>A (p.Ala2546=)
c.6831C>A (p.Ala2277=)
c.3132C>A (p.Ala1044=)
c.7218C>A (p.Ala2406=)
c.6582C>A (p.Ala2194=)
c.3372C>A (p.Ala1124=)
5g.177295006C>GCA447962398NSD1c.6765C>G (p.Ala2255=)
c.2280C>G (p.Ala760=)
n.7221C>G
n.2054C>G
c.7329C>G (p.Ala2443=)
n.7035C>G
c.7638C>G (p.Ala2546=)
c.6831C>G (p.Ala2277=)
c.3132C>G (p.Ala1044=)
c.7218C>G (p.Ala2406=)
c.6582C>G (p.Ala2194=)
c.3372C>G (p.Ala1124=)
5g.177295006C>TCA447962405NSD1c.6765C>T (p.Ala2255=)
c.2280C>T (p.Ala760=)
n.7221C>T
n.2054C>T
c.7329C>T (p.Ala2443=)
n.7035C>T
c.7638C>T (p.Ala2546=)
c.6831C>T (p.Ala2277=)
c.3132C>T (p.Ala1044=)
c.7218C>T (p.Ala2406=)
c.6582C>T (p.Ala2194=)
c.3372C>T (p.Ala1124=)
5g.177295007T>ACA362333753NSD1c.6766T>A (p.Phe2256Ile)
c.2281T>A (p.Phe761Ile)
n.7222T>A
n.2055T>A
c.7330T>A (p.Phe2444Ile)
n.7036T>A
c.7639T>A (p.Phe2547Ile)
c.6832T>A (p.Phe2278Ile)
c.3133T>A (p.Phe1045Ile)
c.7219T>A (p.Phe2407Ile)
c.6583T>A (p.Phe2195Ile)
c.3373T>A (p.Phe1125Ile)
5g.177295007T>CCA362333755NSD1c.6766T>C (p.Phe2256Leu)
c.2281T>C (p.Phe761Leu)
n.7222T>C
n.2055T>C
c.7330T>C (p.Phe2444Leu)
n.7036T>C
c.7639T>C (p.Phe2547Leu)
c.6832T>C (p.Phe2278Leu)
c.3133T>C (p.Phe1045Leu)
c.7219T>C (p.Phe2407Leu)
c.6583T>C (p.Phe2195Leu)
c.3373T>C (p.Phe1125Leu)
 dbSNP
5g.177295007T>GCA362333756NSD1c.6766T>G (p.Phe2256Val)
c.2281T>G (p.Phe761Val)
n.7222T>G
n.2055T>G
c.7330T>G (p.Phe2444Val)
n.7036T>G
c.7639T>G (p.Phe2547Val)
c.6832T>G (p.Phe2278Val)
c.3133T>G (p.Phe1045Val)
c.7219T>G (p.Phe2407Val)
c.6583T>G (p.Phe2195Val)
c.3373T>G (p.Phe1125Val)
5g.177295011delCA2711016051NSD1c.6770del (p.Leu2257TyrfsTer30)
c.2285del (p.Leu762TyrfsTer30)
n.7226del
n.2059del
c.7334del (p.Leu2445TyrfsTer30)
n.7040del
c.7643del (p.Leu2548TyrfsTer30)
c.6836del (p.Leu2279TyrfsTer30)
c.3137del (p.Leu1046TyrfsTer30)
c.7223del (p.Leu2408TyrfsTer30)
c.6587del (p.Leu2196TyrfsTer30)
c.3377del (p.Leu1126TyrfsTer30)
 dbSNP
5g.177295008T>ACA362333759NSD1c.6767T>A (p.Phe2256Tyr)
c.2282T>A (p.Phe761Tyr)
n.7223T>A
n.2056T>A
c.7331T>A (p.Phe2444Tyr)
n.7037T>A
c.7640T>A (p.Phe2547Tyr)
c.6833T>A (p.Phe2278Tyr)
c.3134T>A (p.Phe1045Tyr)
c.7220T>A (p.Phe2407Tyr)
c.6584T>A (p.Phe2195Tyr)
c.3374T>A (p.Phe1125Tyr)
 dbSNP
5g.177295008T>CCA362333761NSD1c.6767T>C (p.Phe2256Ser)
c.2282T>C (p.Phe761Ser)
n.7223T>C
n.2056T>C
c.7331T>C (p.Phe2444Ser)
n.7037T>C
c.7640T>C (p.Phe2547Ser)
c.6833T>C (p.Phe2278Ser)
c.3134T>C (p.Phe1045Ser)
c.7220T>C (p.Phe2407Ser)
c.6584T>C (p.Phe2195Ser)
c.3374T>C (p.Phe1125Ser)
5g.177295008T>GCA362333763NSD1c.6767T>G (p.Phe2256Cys)
c.2282T>G (p.Phe761Cys)
n.7223T>G
n.2056T>G
c.7331T>G (p.Phe2444Cys)
n.7037T>G
c.7640T>G (p.Phe2547Cys)
c.6833T>G (p.Phe2278Cys)
c.3134T>G (p.Phe1045Cys)
c.7220T>G (p.Phe2407Cys)
c.6584T>G (p.Phe2195Cys)
c.3374T>G (p.Phe1125Cys)
 dbSNP
5g.177295009T>ACA362333773NSD1c.6768T>A (p.Phe2256Leu)
c.2283T>A (p.Phe761Leu)
n.7224T>A
n.2057T>A
c.7332T>A (p.Phe2444Leu)
n.7038T>A
c.7641T>A (p.Phe2547Leu)
c.6834T>A (p.Phe2278Leu)
c.3135T>A (p.Phe1045Leu)
c.7221T>A (p.Phe2407Leu)
c.6585T>A (p.Phe2195Leu)
c.3375T>A (p.Phe1125Leu)
5g.177295009T>CCA447962408NSD1c.6768T>C (p.Phe2256=)
c.2283T>C (p.Phe761=)
n.7224T>C
n.2057T>C
c.7332T>C (p.Phe2444=)
n.7038T>C
c.7641T>C (p.Phe2547=)
c.6834T>C (p.Phe2278=)
c.3135T>C (p.Phe1045=)
c.7221T>C (p.Phe2407=)
c.6585T>C (p.Phe2195=)
c.3375T>C (p.Phe1125=)
5g.177295009T>GCA362333775NSD1c.6768T>G (p.Phe2256Leu)
c.2283T>G (p.Phe761Leu)
n.7224T>G
n.2057T>G
c.7332T>G (p.Phe2444Leu)
n.7038T>G
c.7641T>G (p.Phe2547Leu)
c.6834T>G (p.Phe2278Leu)
c.3135T>G (p.Phe1045Leu)
c.7221T>G (p.Phe2407Leu)
c.6585T>G (p.Phe2195Leu)
c.3375T>G (p.Phe1125Leu)
5g.177295010T>ACA362333779NSD1c.6769T>A (p.Leu2257Ile)
c.2284T>A (p.Leu762Ile)
n.7225T>A
n.2058T>A
c.7333T>A (p.Leu2445Ile)
n.7039T>A
c.7642T>A (p.Leu2548Ile)
c.6835T>A (p.Leu2279Ile)
c.3136T>A (p.Leu1046Ile)
c.7222T>A (p.Leu2408Ile)
c.6586T>A (p.Leu2196Ile)
c.3376T>A (p.Leu1126Ile)
5g.177295010T>CCA447962411NSD1c.6769T>C (p.Leu2257=)
c.2284T>C (p.Leu762=)
n.7225T>C
n.2058T>C
c.7333T>C (p.Leu2445=)
n.7039T>C
c.7642T>C (p.Leu2548=)
c.6835T>C (p.Leu2279=)
c.3136T>C (p.Leu1046=)
c.7222T>C (p.Leu2408=)
c.6586T>C (p.Leu2196=)
c.3376T>C (p.Leu1126=)
5g.177295010T>GCA362333782NSD1c.6769T>G (p.Leu2257Val)
c.2284T>G (p.Leu762Val)
n.7225T>G
n.2058T>G
c.7333T>G (p.Leu2445Val)
n.7039T>G
c.7642T>G (p.Leu2548Val)
c.6835T>G (p.Leu2279Val)
c.3136T>G (p.Leu1046Val)
c.7222T>G (p.Leu2408Val)
c.6586T>G (p.Leu2196Val)
c.3376T>G (p.Leu1126Val)
5g.177295011T>ACA362333786NSD1c.6770T>A (p.Leu2257Ter)
c.2285T>A (p.Leu762Ter)
n.7226T>A
n.2059T>A
c.7334T>A (p.Leu2445Ter)
n.7040T>A
c.7643T>A (p.Leu2548Ter)
c.6836T>A (p.Leu2279Ter)
c.3137T>A (p.Leu1046Ter)
c.7223T>A (p.Leu2408Ter)
c.6587T>A (p.Leu2196Ter)
c.3377T>A (p.Leu1126Ter)
5g.177295011T>CCA3578158NSD1c.6770T>C (p.Leu2257Ser)
c.2285T>C (p.Leu762Ser)
n.7226T>C
n.2059T>C
c.7334T>C (p.Leu2445Ser)
n.7040T>C
c.7643T>C (p.Leu2548Ser)
c.6836T>C (p.Leu2279Ser)
c.3137T>C (p.Leu1046Ser)
c.7223T>C (p.Leu2408Ser)
c.6587T>C (p.Leu2196Ser)
c.3377T>C (p.Leu1126Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.177295011T>GCA362333785NSD1c.6770T>G (p.Leu2257Ter)
c.2285T>G (p.Leu762Ter)
n.7226T>G
n.2059T>G
c.7334T>G (p.Leu2445Ter)
n.7040T>G
c.7643T>G (p.Leu2548Ter)
c.6836T>G (p.Leu2279Ter)
c.3137T>G (p.Leu1046Ter)
c.7223T>G (p.Leu2408Ter)
c.6587T>G (p.Leu2196Ter)
c.3377T>G (p.Leu1126Ter)
5g.177295011T=CA1603537307NSD1c.6770T= (p.Leu2257=)
c.2285T= (p.Leu762=)
n.7226T=
n.2059T=
c.7334T= (p.Leu2445=)
n.7040T=
c.7643T= (p.Leu2548=)
c.6836T= (p.Leu2279=)
c.3137T= (p.Leu1046=)
c.7223T= (p.Leu2408=)
c.6587T= (p.Leu2196=)
c.3377T= (p.Leu1126=)
5g.177295012A=CA1603537315NSD1c.6771A= (p.Leu2257=)
c.2286A= (p.Leu762=)
n.7227A=
n.2060A=
c.7335A= (p.Leu2445=)
n.7041A=
c.7644A= (p.Leu2548=)
c.6837A= (p.Leu2279=)
c.3138A= (p.Leu1046=)
c.7224A= (p.Leu2408=)
c.6588A= (p.Leu2196=)
c.3378A= (p.Leu1126=)
5g.177295012A>CCA362333788NSD1c.6771A>C (p.Leu2257Phe)
c.2286A>C (p.Leu762Phe)
n.7227A>C
n.2060A>C
c.7335A>C (p.Leu2445Phe)
n.7041A>C
c.7644A>C (p.Leu2548Phe)
c.6837A>C (p.Leu2279Phe)
c.3138A>C (p.Leu1046Phe)
c.7224A>C (p.Leu2408Phe)
c.6588A>C (p.Leu2196Phe)
c.3378A>C (p.Leu1126Phe)
5g.177295012A>GCA3578159NSD1c.6771A>G (p.Leu2257=)
c.2286A>G (p.Leu762=)
n.7227A>G
n.2060A>G
c.7335A>G (p.Leu2445=)
n.7041A>G
c.7644A>G (p.Leu2548=)
c.6837A>G (p.Leu2279=)
c.3138A>G (p.Leu1046=)
c.7224A>G (p.Leu2408=)
c.6588A>G (p.Leu2196=)
c.3378A>G (p.Leu1126=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177295012A>TCA362333791NSD1c.6771A>T (p.Leu2257Phe)
c.2286A>T (p.Leu762Phe)
n.7227A>T
n.2060A>T
c.7335A>T (p.Leu2445Phe)
n.7041A>T
c.7644A>T (p.Leu2548Phe)
c.6837A>T (p.Leu2279Phe)
c.3138A>T (p.Leu1046Phe)
c.7224A>T (p.Leu2408Phe)
c.6588A>T (p.Leu2196Phe)
c.3378A>T (p.Leu1126Phe)
 dbSNP
5g.177295013T>ACA132863247NSD1c.6772T>A (p.Tyr2258Asn)
c.2287T>A (p.Tyr763Asn)
n.7228T>A
n.2061T>A
c.7336T>A (p.Tyr2446Asn)
n.7042T>A
c.7645T>A (p.Tyr2549Asn)
c.6838T>A (p.Tyr2280Asn)
c.3139T>A (p.Tyr1047Asn)
c.7225T>A (p.Tyr2409Asn)
c.6589T>A (p.Tyr2197Asn)
c.3379T>A (p.Tyr1127Asn)
 dbSNP gnomAD v3 gnomAD v4
5g.177295013T>CCA362333796NSD1c.6772T>C (p.Tyr2258His)
c.2287T>C (p.Tyr763His)
n.7228T>C
n.2061T>C
c.7336T>C (p.Tyr2446His)
n.7042T>C
c.7645T>C (p.Tyr2549His)
c.6838T>C (p.Tyr2280His)
c.3139T>C (p.Tyr1047His)
c.7225T>C (p.Tyr2409His)
c.6589T>C (p.Tyr2197His)
c.3379T>C (p.Tyr1127His)
5g.177295013T>GCA362333799NSD1c.6772T>G (p.Tyr2258Asp)
c.2287T>G (p.Tyr763Asp)
n.7228T>G
n.2061T>G
c.7336T>G (p.Tyr2446Asp)
n.7042T>G
c.7645T>G (p.Tyr2549Asp)
c.6838T>G (p.Tyr2280Asp)
c.3139T>G (p.Tyr1047Asp)
c.7225T>G (p.Tyr2409Asp)
c.6589T>G (p.Tyr2197Asp)
c.3379T>G (p.Tyr1127Asp)
5g.177295013T=CA1603537318NSD1c.6772T= (p.Tyr2258=)
c.2287T= (p.Tyr763=)
n.7228T=
n.2061T=
c.7336T= (p.Tyr2446=)
n.7042T=
c.7645T= (p.Tyr2549=)
c.6838T= (p.Tyr2280=)
c.3139T= (p.Tyr1047=)
c.7225T= (p.Tyr2409=)
c.6589T= (p.Tyr2197=)
c.3379T= (p.Tyr1127=)
5g.177295014A=CA1603537321NSD1c.6773A= (p.Tyr2258=)
c.2288A= (p.Tyr763=)
n.7229A=
n.2062A=
c.7337A= (p.Tyr2446=)
n.7043A=
c.7646A= (p.Tyr2549=)
c.6839A= (p.Tyr2280=)
c.3140A= (p.Tyr1047=)
c.7226A= (p.Tyr2409=)
c.6590A= (p.Tyr2197=)
c.3380A= (p.Tyr1127=)
5g.177295014A>CCA362333815NSD1c.6773A>C (p.Tyr2258Ser)
c.2288A>C (p.Tyr763Ser)
n.7229A>C
n.2062A>C
c.7337A>C (p.Tyr2446Ser)
n.7043A>C
c.7646A>C (p.Tyr2549Ser)
c.6839A>C (p.Tyr2280Ser)
c.3140A>C (p.Tyr1047Ser)
c.7226A>C (p.Tyr2409Ser)
c.6590A>C (p.Tyr2197Ser)
c.3380A>C (p.Tyr1127Ser)
5g.177295014A>GCA132863251NSD1c.6773A>G (p.Tyr2258Cys)
c.2288A>G (p.Tyr763Cys)
n.7229A>G
n.2062A>G
c.7337A>G (p.Tyr2446Cys)
n.7043A>G
c.7646A>G (p.Tyr2549Cys)
c.6839A>G (p.Tyr2280Cys)
c.3140A>G (p.Tyr1047Cys)
c.7226A>G (p.Tyr2409Cys)
c.6590A>G (p.Tyr2197Cys)
c.3380A>G (p.Tyr1127Cys)
 dbSNP
5g.177295014A>TCA362333810NSD1c.6773A>T (p.Tyr2258Phe)
c.2288A>T (p.Tyr763Phe)
n.7229A>T
n.2062A>T
c.7337A>T (p.Tyr2446Phe)
n.7043A>T
c.7646A>T (p.Tyr2549Phe)
c.6839A>T (p.Tyr2280Phe)
c.3140A>T (p.Tyr1047Phe)
c.7226A>T (p.Tyr2409Phe)
c.6590A>T (p.Tyr2197Phe)
c.3380A>T (p.Tyr1127Phe)
 dbSNP
5g.177295015T>ACA362333817NSD1c.6774T>A (p.Tyr2258Ter)
c.2289T>A (p.Tyr763Ter)
n.7230T>A
n.2063T>A
c.7338T>A (p.Tyr2446Ter)
n.7044T>A
c.7647T>A (p.Tyr2549Ter)
c.6840T>A (p.Tyr2280Ter)
c.3141T>A (p.Tyr1047Ter)
c.7227T>A (p.Tyr2409Ter)
c.6591T>A (p.Tyr2197Ter)
c.3381T>A (p.Tyr1127Ter)
5g.177295015T>CCA447962428NSD1c.6774T>C (p.Tyr2258=)
c.2289T>C (p.Tyr763=)
n.7230T>C
n.2063T>C
c.7338T>C (p.Tyr2446=)
n.7044T>C
c.7647T>C (p.Tyr2549=)
c.6840T>C (p.Tyr2280=)
c.3141T>C (p.Tyr1047=)
c.7227T>C (p.Tyr2409=)
c.6591T>C (p.Tyr2197=)
c.3381T>C (p.Tyr1127=)
5g.177295015T>GCA362333819NSD1c.6774T>G (p.Tyr2258Ter)
c.2289T>G (p.Tyr763Ter)
n.7230T>G
n.2063T>G
c.7338T>G (p.Tyr2446Ter)
n.7044T>G
c.7647T>G (p.Tyr2549Ter)
c.6840T>G (p.Tyr2280Ter)
c.3141T>G (p.Tyr1047Ter)
c.7227T>G (p.Tyr2409Ter)
c.6591T>G (p.Tyr2197Ter)
c.3381T>G (p.Tyr1127Ter)
5g.177295016G>ACA362333824NSD1c.6775G>A (p.Glu2259Lys)
c.2290G>A (p.Glu764Lys)
n.7231G>A
n.2064G>A
c.7339G>A (p.Glu2447Lys)
n.7045G>A
c.7648G>A (p.Glu2550Lys)
c.6841G>A (p.Glu2281Lys)
c.3142G>A (p.Glu1048Lys)
c.7228G>A (p.Glu2410Lys)
c.6592G>A (p.Glu2198Lys)
c.3382G>A (p.Glu1128Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.177295016G>CCA362333826NSD1c.6775G>C (p.Glu2259Gln)
c.2290G>C (p.Glu764Gln)
n.7231G>C
n.2064G>C
c.7339G>C (p.Glu2447Gln)
n.7045G>C
c.7648G>C (p.Glu2550Gln)
c.6841G>C (p.Glu2281Gln)
c.3142G>C (p.Glu1048Gln)
c.7228G>C (p.Glu2410Gln)
c.6592G>C (p.Glu2198Gln)
c.3382G>C (p.Glu1128Gln)
5g.177295016G=CA1603537323NSD1c.6775G= (p.Glu2259=)
c.2290G= (p.Glu764=)
n.7231G=
n.2064G=
c.7339G= (p.Glu2447=)
n.7045G=
c.7648G= (p.Glu2550=)
c.6841G= (p.Glu2281=)
c.3142G= (p.Glu1048=)
c.7228G= (p.Glu2410=)
c.6592G= (p.Glu2198=)
c.3382G= (p.Glu1128=)
5g.177295016G>TCA362333830NSD1c.6775G>T (p.Glu2259Ter)
c.2290G>T (p.Glu764Ter)
n.7231G>T
n.2064G>T
c.7339G>T (p.Glu2447Ter)
n.7045G>T
c.7648G>T (p.Glu2550Ter)
c.6841G>T (p.Glu2281Ter)
c.3142G>T (p.Glu1048Ter)
c.7228G>T (p.Glu2410Ter)
c.6592G>T (p.Glu2198Ter)
c.3382G>T (p.Glu1128Ter)
5g.177295017A=CA1603537327NSD1c.6776A= (p.Glu2259=)
c.2291A= (p.Glu764=)
n.7232A=
n.2065A=
c.7340A= (p.Glu2447=)
n.7046A=
c.7649A= (p.Glu2550=)
c.6842A= (p.Glu2281=)
c.3143A= (p.Glu1048=)
c.7229A= (p.Glu2410=)
c.6593A= (p.Glu2198=)
c.3383A= (p.Glu1128=)
5g.177295017A>CCA362333833NSD1c.6776A>C (p.Glu2259Ala)
c.2291A>C (p.Glu764Ala)
n.7232A>C
n.2065A>C
c.7340A>C (p.Glu2447Ala)
n.7046A>C
c.7649A>C (p.Glu2550Ala)
c.6842A>C (p.Glu2281Ala)
c.3143A>C (p.Glu1048Ala)
c.7229A>C (p.Glu2410Ala)
c.6593A>C (p.Glu2198Ala)
c.3383A>C (p.Glu1128Ala)
 dbSNP
5g.177295017A>GCA362333839NSD1c.6776A>G (p.Glu2259Gly)
c.2291A>G (p.Glu764Gly)
n.7232A>G
n.2065A>G
c.7340A>G (p.Glu2447Gly)
n.7046A>G
c.7649A>G (p.Glu2550Gly)
c.6842A>G (p.Glu2281Gly)
c.3143A>G (p.Glu1048Gly)
c.7229A>G (p.Glu2410Gly)
c.6593A>G (p.Glu2198Gly)
c.3383A>G (p.Glu1128Gly)
5g.177295017A>TCA362333835NSD1c.6776A>T (p.Glu2259Val)
c.2291A>T (p.Glu764Val)
n.7232A>T
n.2065A>T
c.7340A>T (p.Glu2447Val)
n.7046A>T
c.7649A>T (p.Glu2550Val)
c.6842A>T (p.Glu2281Val)
c.3143A>T (p.Glu1048Val)
c.7229A>T (p.Glu2410Val)
c.6593A>T (p.Glu2198Val)
c.3383A>T (p.Glu1128Val)
 dbSNP gnomAD v3 gnomAD v4
5g.177295018G>ACA447962435NSD1c.6777G>A (p.Glu2259=)
c.2292G>A (p.Glu764=)
n.7233G>A
n.2066G>A
c.7341G>A (p.Glu2447=)
n.7047G>A
c.7650G>A (p.Glu2550=)
c.6843G>A (p.Glu2281=)
c.3144G>A (p.Glu1048=)
c.7230G>A (p.Glu2410=)
c.6594G>A (p.Glu2198=)
c.3384G>A (p.Glu1128=)
5g.177295018G>CCA362333842NSD1c.6777G>C (p.Glu2259Asp)
c.2292G>C (p.Glu764Asp)
n.7233G>C
n.2066G>C
c.7341G>C (p.Glu2447Asp)
n.7047G>C
c.7650G>C (p.Glu2550Asp)
c.6843G>C (p.Glu2281Asp)
c.3144G>C (p.Glu1048Asp)
c.7230G>C (p.Glu2410Asp)
c.6594G>C (p.Glu2198Asp)
c.3384G>C (p.Glu1128Asp)
5g.177295018G>TCA362333846NSD1c.6777G>T (p.Glu2259Asp)
c.2292G>T (p.Glu764Asp)
n.7233G>T
n.2066G>T
c.7341G>T (p.Glu2447Asp)
n.7047G>T
c.7650G>T (p.Glu2550Asp)
c.6843G>T (p.Glu2281Asp)
c.3144G>T (p.Glu1048Asp)
c.7230G>T (p.Glu2410Asp)
c.6594G>T (p.Glu2198Asp)
c.3384G>T (p.Glu1128Asp)
5g.177295019C>ACA362333849NSD1c.6778C>A (p.Pro2260Thr)
c.2293C>A (p.Pro765Thr)
n.7234C>A
n.2067C>A
c.7342C>A (p.Pro2448Thr)
n.7048C>A
c.7651C>A (p.Pro2551Thr)
c.6844C>A (p.Pro2282Thr)
c.3145C>A (p.Pro1049Thr)
c.7231C>A (p.Pro2411Thr)
c.6595C>A (p.Pro2199Thr)
c.3385C>A (p.Pro1129Thr)
 dbSNP
5g.177295019C>GCA362333852NSD1c.6778C>G (p.Pro2260Ala)
c.2293C>G (p.Pro765Ala)
n.7234C>G
n.2067C>G
c.7342C>G (p.Pro2448Ala)
n.7048C>G
c.7651C>G (p.Pro2551Ala)
c.6844C>G (p.Pro2282Ala)
c.3145C>G (p.Pro1049Ala)
c.7231C>G (p.Pro2411Ala)
c.6595C>G (p.Pro2199Ala)
c.3385C>G (p.Pro1129Ala)
5g.177295019C>TCA362333854NSD1c.6778C>T (p.Pro2260Ser)
c.2293C>T (p.Pro765Ser)
n.7234C>T
n.2067C>T
c.7342C>T (p.Pro2448Ser)
n.7048C>T
c.7651C>T (p.Pro2551Ser)
c.6844C>T (p.Pro2282Ser)
c.3145C>T (p.Pro1049Ser)
c.7231C>T (p.Pro2411Ser)
c.6595C>T (p.Pro2199Ser)
c.3385C>T (p.Pro1129Ser)
5g.177295020C>ACA362333857NSD1c.6779C>A (p.Pro2260Gln)
c.2294C>A (p.Pro765Gln)
n.7235C>A
n.2068C>A
c.7343C>A (p.Pro2448Gln)
n.7049C>A
c.7652C>A (p.Pro2551Gln)
c.6845C>A (p.Pro2282Gln)
c.3146C>A (p.Pro1049Gln)
c.7232C>A (p.Pro2411Gln)
c.6596C>A (p.Pro2199Gln)
c.3386C>A (p.Pro1129Gln)
 COSMIC COSMIC
5g.177295020C>GCA362333860NSD1c.6779C>G (p.Pro2260Arg)
c.2294C>G (p.Pro765Arg)
n.7235C>G
n.2068C>G
c.7343C>G (p.Pro2448Arg)
n.7049C>G
c.7652C>G (p.Pro2551Arg)
c.6845C>G (p.Pro2282Arg)
c.3146C>G (p.Pro1049Arg)
c.7232C>G (p.Pro2411Arg)
c.6596C>G (p.Pro2199Arg)
c.3386C>G (p.Pro1129Arg)
5g.177295020C>TCA362333862NSD1c.6779C>T (p.Pro2260Leu)
c.2294C>T (p.Pro765Leu)
n.7235C>T
n.2068C>T
c.7343C>T (p.Pro2448Leu)
n.7049C>T
c.7652C>T (p.Pro2551Leu)
c.6845C>T (p.Pro2282Leu)
c.3146C>T (p.Pro1049Leu)
c.7232C>T (p.Pro2411Leu)
c.6596C>T (p.Pro2199Leu)
c.3386C>T (p.Pro1129Leu)
 gnomAD v4
5g.177295021A>CCA447962468NSD1c.6780A>C (p.Pro2260=)
c.2295A>C (p.Pro765=)
n.7236A>C
n.2069A>C
c.7344A>C (p.Pro2448=)
n.7050A>C
c.7653A>C (p.Pro2551=)
c.6846A>C (p.Pro2282=)
c.3147A>C (p.Pro1049=)
c.7233A>C (p.Pro2411=)
c.6597A>C (p.Pro2199=)
c.3387A>C (p.Pro1129=)
5g.177295021A>GCA447962462NSD1c.6780A>G (p.Pro2260=)
c.2295A>G (p.Pro765=)
n.7236A>G
n.2069A>G
c.7344A>G (p.Pro2448=)
n.7050A>G
c.7653A>G (p.Pro2551=)
c.6846A>G (p.Pro2282=)
c.3147A>G (p.Pro1049=)
c.7233A>G (p.Pro2411=)
c.6597A>G (p.Pro2199=)
c.3387A>G (p.Pro1129=)
5g.177295021A>TCA447962461NSD1c.6780A>T (p.Pro2260=)
c.2295A>T (p.Pro765=)
n.7236A>T
n.2069A>T
c.7344A>T (p.Pro2448=)
n.7050A>T
c.7653A>T (p.Pro2551=)
c.6846A>T (p.Pro2282=)
c.3147A>T (p.Pro1049=)
c.7233A>T (p.Pro2411=)
c.6597A>T (p.Pro2199=)
c.3387A>T (p.Pro1129=)
5g.177295022A>CCA362333867NSD1c.6781A>C (p.Thr2261Pro)
c.2296A>C (p.Thr766Pro)
n.7237A>C
n.2070A>C
c.7345A>C (p.Thr2449Pro)
n.7051A>C
c.7654A>C (p.Thr2552Pro)
c.6847A>C (p.Thr2283Pro)
c.3148A>C (p.Thr1050Pro)
c.7234A>C (p.Thr2412Pro)
c.6598A>C (p.Thr2200Pro)
c.3388A>C (p.Thr1130Pro)
 dbSNP
5g.177295022A>GCA362333870NSD1c.6781A>G (p.Thr2261Ala)
c.2296A>G (p.Thr766Ala)
n.7237A>G
n.2070A>G
c.7345A>G (p.Thr2449Ala)
n.7051A>G
c.7654A>G (p.Thr2552Ala)
c.6847A>G (p.Thr2283Ala)
c.3148A>G (p.Thr1050Ala)
c.7234A>G (p.Thr2412Ala)
c.6598A>G (p.Thr2200Ala)
c.3388A>G (p.Thr1130Ala)
5g.177295022A>TCA362333873NSD1c.6781A>T (p.Thr2261Ser)
c.2296A>T (p.Thr766Ser)
n.7237A>T
n.2070A>T
c.7345A>T (p.Thr2449Ser)
n.7051A>T
c.7654A>T (p.Thr2552Ser)
c.6847A>T (p.Thr2283Ser)
c.3148A>T (p.Thr1050Ser)
c.7234A>T (p.Thr2412Ser)
c.6598A>T (p.Thr2200Ser)
c.3388A>T (p.Thr1130Ser)
5g.177295023C>ACA362333876NSD1c.6782C>A (p.Thr2261Lys)
c.2297C>A (p.Thr766Lys)
n.7238C>A
n.2071C>A
c.7346C>A (p.Thr2449Lys)
n.7052C>A
c.7655C>A (p.Thr2552Lys)
c.6848C>A (p.Thr2283Lys)
c.3149C>A (p.Thr1050Lys)
c.7235C>A (p.Thr2412Lys)
c.6599C>A (p.Thr2200Lys)
c.3389C>A (p.Thr1130Lys)
 gnomAD v4
5g.177295023C>GCA362333884NSD1c.6782C>G (p.Thr2261Arg)
c.2297C>G (p.Thr766Arg)
n.7238C>G
n.2071C>G
c.7346C>G (p.Thr2449Arg)
n.7052C>G
c.7655C>G (p.Thr2552Arg)
c.6848C>G (p.Thr2283Arg)
c.3149C>G (p.Thr1050Arg)
c.7235C>G (p.Thr2412Arg)
c.6599C>G (p.Thr2200Arg)
c.3389C>G (p.Thr1130Arg)
 gnomAD v4
5g.177295023C>TCA362333879NSD1c.6782C>T (p.Thr2261Ile)
c.2297C>T (p.Thr766Ile)
n.7238C>T
n.2071C>T
c.7346C>T (p.Thr2449Ile)
n.7052C>T
c.7655C>T (p.Thr2552Ile)
c.6848C>T (p.Thr2283Ile)
c.3149C>T (p.Thr1050Ile)
c.7235C>T (p.Thr2412Ile)
c.6599C>T (p.Thr2200Ile)
c.3389C>T (p.Thr1130Ile)
5g.177295024A>CCA447962122NSD1c.6783A>C (p.Thr2261=)
c.2298A>C (p.Thr766=)
n.7239A>C
n.2072A>C
c.7347A>C (p.Thr2449=)
n.7053A>C
c.7656A>C (p.Thr2552=)
c.6849A>C (p.Thr2283=)
c.3150A>C (p.Thr1050=)
c.7236A>C (p.Thr2412=)
c.6600A>C (p.Thr2200=)
c.3390A>C (p.Thr1130=)
5g.177295024A>GCA447962124NSD1c.6783A>G (p.Thr2261=)
c.2298A>G (p.Thr766=)
n.7239A>G
n.2072A>G
c.7347A>G (p.Thr2449=)
n.7053A>G
c.7656A>G (p.Thr2552=)
c.6849A>G (p.Thr2283=)
c.3150A>G (p.Thr1050=)
c.7236A>G (p.Thr2412=)
c.6600A>G (p.Thr2200=)
c.3390A>G (p.Thr1130=)
5g.177295024A>TCA447962125NSD1c.6783A>T (p.Thr2261=)
c.2298A>T (p.Thr766=)
n.7239A>T
n.2072A>T
c.7347A>T (p.Thr2449=)
n.7053A>T
c.7656A>T (p.Thr2552=)
c.6849A>T (p.Thr2283=)
c.3150A>T (p.Thr1050=)
c.7236A>T (p.Thr2412=)
c.6600A>T (p.Thr2200=)
c.3390A>T (p.Thr1130=)
5g.177295025A>CCA362333887NSD1c.6784A>C (p.Thr2262Pro)
c.2299A>C (p.Thr767Pro)
n.7240A>C
n.2073A>C
c.7348A>C (p.Thr2450Pro)
n.7054A>C
c.7657A>C (p.Thr2553Pro)
c.6850A>C (p.Thr2284Pro)
c.3151A>C (p.Thr1051Pro)
c.7237A>C (p.Thr2413Pro)
c.6601A>C (p.Thr2201Pro)
c.3391A>C (p.Thr1131Pro)
5g.177295025A>GCA362333889NSD1c.6784A>G (p.Thr2262Ala)
c.2299A>G (p.Thr767Ala)
n.7240A>G
n.2073A>G
c.7348A>G (p.Thr2450Ala)
n.7054A>G
c.7657A>G (p.Thr2553Ala)
c.6850A>G (p.Thr2284Ala)
c.3151A>G (p.Thr1051Ala)
c.7237A>G (p.Thr2413Ala)
c.6601A>G (p.Thr2201Ala)
c.3391A>G (p.Thr1131Ala)
 gnomAD v4
5g.177295025A>TCA362333892NSD1c.6784A>T (p.Thr2262Ser)
c.2299A>T (p.Thr767Ser)
n.7240A>T
n.2073A>T
c.7348A>T (p.Thr2450Ser)
n.7054A>T
c.7657A>T (p.Thr2553Ser)
c.6850A>T (p.Thr2284Ser)
c.3151A>T (p.Thr1051Ser)
c.7237A>T (p.Thr2413Ser)
c.6601A>T (p.Thr2201Ser)
c.3391A>T (p.Thr1131Ser)
5g.177295026C>ACA362333895NSD1c.6785C>A (p.Thr2262Asn)
c.2300C>A (p.Thr767Asn)
n.7241C>A
n.2074C>A
c.7349C>A (p.Thr2450Asn)
n.7055C>A
c.7658C>A (p.Thr2553Asn)
c.6851C>A (p.Thr2284Asn)
c.3152C>A (p.Thr1051Asn)
c.7238C>A (p.Thr2413Asn)
c.6602C>A (p.Thr2201Asn)
c.3392C>A (p.Thr1131Asn)
5g.177295026C=CA1603537330NSD1c.6785C= (p.Thr2262=)
c.2300C= (p.Thr767=)
n.7241C=
n.2074C=
c.7349C= (p.Thr2450=)
n.7055C=
c.7658C= (p.Thr2553=)
c.6851C= (p.Thr2284=)
c.3152C= (p.Thr1051=)
c.7238C= (p.Thr2413=)
c.6602C= (p.Thr2201=)
c.3392C= (p.Thr1131=)
5g.177295026C>GCA362333896NSD1c.6785C>G (p.Thr2262Ser)
c.2300C>G (p.Thr767Ser)
n.7241C>G
n.2074C>G
c.7349C>G (p.Thr2450Ser)
n.7055C>G
c.7658C>G (p.Thr2553Ser)
c.6851C>G (p.Thr2284Ser)
c.3152C>G (p.Thr1051Ser)
c.7238C>G (p.Thr2413Ser)
c.6602C>G (p.Thr2201Ser)
c.3392C>G (p.Thr1131Ser)
5g.177295026C>TCA362333897NSD1c.6785C>T (p.Thr2262Ile)
c.2300C>T (p.Thr767Ile)
n.7241C>T
n.2074C>T
c.7349C>T (p.Thr2450Ile)
n.7055C>T
c.7658C>T (p.Thr2553Ile)
c.6851C>T (p.Thr2284Ile)
c.3152C>T (p.Thr1051Ile)
c.7238C>T (p.Thr2413Ile)
c.6602C>T (p.Thr2201Ile)
c.3392C>T (p.Thr1131Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177295027T>ACA447962129NSD1c.6786T>A (p.Thr2262=)
c.2301T>A (p.Thr767=)
n.7242T>A
n.2075T>A
c.7350T>A (p.Thr2450=)
n.7056T>A
c.7659T>A (p.Thr2553=)
c.6852T>A (p.Thr2284=)
c.3153T>A (p.Thr1051=)
c.7239T>A (p.Thr2413=)
c.6603T>A (p.Thr2201=)
c.3393T>A (p.Thr1131=)
5g.177295027T>CCA447962132NSD1c.6786T>C (p.Thr2262=)
c.2301T>C (p.Thr767=)
n.7242T>C
n.2075T>C
c.7350T>C (p.Thr2450=)
n.7056T>C
c.7659T>C (p.Thr2553=)
c.6852T>C (p.Thr2284=)
c.3153T>C (p.Thr1051=)
c.7239T>C (p.Thr2413=)
c.6603T>C (p.Thr2201=)
c.3393T>C (p.Thr1131=)
5g.177295027T>GCA447962131NSD1c.6786T>G (p.Thr2262=)
c.2301T>G (p.Thr767=)
n.7242T>G
n.2075T>G
c.7350T>G (p.Thr2450=)
n.7056T>G
c.7659T>G (p.Thr2553=)
c.6852T>G (p.Thr2284=)
c.3153T>G (p.Thr1051=)
c.7239T>G (p.Thr2413=)
c.6603T>G (p.Thr2201=)
c.3393T>G (p.Thr1131=)
5g.177295028C>ACA362333902NSD1c.6787C>A (p.Gln2263Lys)
c.2302C>A (p.Gln768Lys)
n.7243C>A
n.2076C>A
c.7351C>A (p.Gln2451Lys)
n.7057C>A
c.7660C>A (p.Gln2554Lys)
c.6853C>A (p.Gln2285Lys)
c.3154C>A (p.Gln1052Lys)
c.7240C>A (p.Gln2414Lys)
c.6604C>A (p.Gln2202Lys)
c.3394C>A (p.Gln1132Lys)
5g.177295028C>GCA362333898NSD1c.6787C>G (p.Gln2263Glu)
c.2302C>G (p.Gln768Glu)
n.7243C>G
n.2076C>G
c.7351C>G (p.Gln2451Glu)
n.7057C>G
c.7660C>G (p.Gln2554Glu)
c.6853C>G (p.Gln2285Glu)
c.3154C>G (p.Gln1052Glu)
c.7240C>G (p.Gln2414Glu)
c.6604C>G (p.Gln2202Glu)
c.3394C>G (p.Gln1132Glu)
5g.177295028C>TCA362333900NSD1c.6787C>T (p.Gln2263Ter)
c.2302C>T (p.Gln768Ter)
n.7243C>T
n.2076C>T
c.7351C>T (p.Gln2451Ter)
n.7057C>T
c.7660C>T (p.Gln2554Ter)
c.6853C>T (p.Gln2285Ter)
c.3154C>T (p.Gln1052Ter)
c.7240C>T (p.Gln2414Ter)
c.6604C>T (p.Gln2202Ter)
c.3394C>T (p.Gln1132Ter)
5g.177295029A>CCA362333903NSD1c.6788A>C (p.Gln2263Pro)
c.2303A>C (p.Gln768Pro)
n.7244A>C
n.2077A>C
c.7352A>C (p.Gln2451Pro)
n.7058A>C
c.7661A>C (p.Gln2554Pro)
c.6854A>C (p.Gln2285Pro)
c.3155A>C (p.Gln1052Pro)
c.7241A>C (p.Gln2414Pro)
c.6605A>C (p.Gln2202Pro)
c.3395A>C (p.Gln1132Pro)
5g.177295029A>GCA362333904NSD1c.6788A>G (p.Gln2263Arg)
c.2303A>G (p.Gln768Arg)
n.7244A>G
n.2077A>G
c.7352A>G (p.Gln2451Arg)
n.7058A>G
c.7661A>G (p.Gln2554Arg)
c.6854A>G (p.Gln2285Arg)
c.3155A>G (p.Gln1052Arg)
c.7241A>G (p.Gln2414Arg)
c.6605A>G (p.Gln2202Arg)
c.3395A>G (p.Gln1132Arg)
5g.177295029A>TCA362333906NSD1c.6788A>T (p.Gln2263Leu)
c.2303A>T (p.Gln768Leu)
n.7244A>T
n.2077A>T
c.7352A>T (p.Gln2451Leu)
n.7058A>T
c.7661A>T (p.Gln2554Leu)
c.6854A>T (p.Gln2285Leu)
c.3155A>T (p.Gln1052Leu)
c.7241A>T (p.Gln2414Leu)
c.6605A>T (p.Gln2202Leu)
c.3395A>T (p.Gln1132Leu)
5g.177295030G>ACA447962135NSD1c.6789G>A (p.Gln2263=)
c.2304G>A (p.Gln768=)
n.7245G>A
n.2078G>A
c.7353G>A (p.Gln2451=)
n.7059G>A
c.7662G>A (p.Gln2554=)
c.6855G>A (p.Gln2285=)
c.3156G>A (p.Gln1052=)
c.7242G>A (p.Gln2414=)
c.6606G>A (p.Gln2202=)
c.3396G>A (p.Gln1132=)
 gnomAD v4
5g.177295030G>CCA362333907NSD1c.6789G>C (p.Gln2263His)
c.2304G>C (p.Gln768His)
n.7245G>C
n.2078G>C
c.7353G>C (p.Gln2451His)
n.7059G>C
c.7662G>C (p.Gln2554His)
c.6855G>C (p.Gln2285His)
c.3156G>C (p.Gln1052His)
c.7242G>C (p.Gln2414His)
c.6606G>C (p.Gln2202His)
c.3396G>C (p.Gln1132His)
5g.177295030G>TCA362333910NSD1c.6789G>T (p.Gln2263His)
c.2304G>T (p.Gln768His)
n.7245G>T
n.2078G>T
c.7353G>T (p.Gln2451His)
n.7059G>T
c.7662G>T (p.Gln2554His)
c.6855G>T (p.Gln2285His)
c.3156G>T (p.Gln1052His)
c.7242G>T (p.Gln2414His)
c.6606G>T (p.Gln2202His)
c.3396G>T (p.Gln1132His)
5g.177295031G>ACA362333920NSD1c.6790G>A (p.Ala2264Thr)
c.2305G>A (p.Ala769Thr)
n.7246G>A
n.2079G>A
c.7354G>A (p.Ala2452Thr)
n.7060G>A
c.7663G>A (p.Ala2555Thr)
c.6856G>A (p.Ala2286Thr)
c.3157G>A (p.Ala1053Thr)
c.7243G>A (p.Ala2415Thr)
c.6607G>A (p.Ala2203Thr)
c.3397G>A (p.Ala1133Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.177295031G>CCA362333913NSD1c.6790G>C (p.Ala2264Pro)
c.2305G>C (p.Ala769Pro)
n.7246G>C
n.2079G>C
c.7354G>C (p.Ala2452Pro)
n.7060G>C
c.7663G>C (p.Ala2555Pro)
c.6856G>C (p.Ala2286Pro)
c.3157G>C (p.Ala1053Pro)
c.7243G>C (p.Ala2415Pro)
c.6607G>C (p.Ala2203Pro)
c.3397G>C (p.Ala1133Pro)
5g.177295031G=CA1603537337NSD1c.6790G= (p.Ala2264=)
c.2305G= (p.Ala769=)
n.7246G=
n.2079G=
c.7354G= (p.Ala2452=)
n.7060G=
c.7663G= (p.Ala2555=)
c.6856G= (p.Ala2286=)
c.3157G= (p.Ala1053=)
c.7243G= (p.Ala2415=)
c.6607G= (p.Ala2203=)
c.3397G= (p.Ala1133=)
5g.177295031G>TCA362333917NSD1c.6790G>T (p.Ala2264Ser)
c.2305G>T (p.Ala769Ser)
n.7246G>T
n.2079G>T
c.7354G>T (p.Ala2452Ser)
n.7060G>T
c.7663G>T (p.Ala2555Ser)
c.6856G>T (p.Ala2286Ser)
c.3157G>T (p.Ala1053Ser)
c.7243G>T (p.Ala2415Ser)
c.6607G>T (p.Ala2203Ser)
c.3397G>T (p.Ala1133Ser)
5g.177295032C>ACA362333924NSD1c.6791C>A (p.Ala2264Asp)
c.2306C>A (p.Ala769Asp)
n.7247C>A
n.2080C>A
c.7355C>A (p.Ala2452Asp)
n.7061C>A
c.7664C>A (p.Ala2555Asp)
c.6857C>A (p.Ala2286Asp)
c.3158C>A (p.Ala1053Asp)
c.7244C>A (p.Ala2415Asp)
c.6608C>A (p.Ala2203Asp)
c.3398C>A (p.Ala1133Asp)
 dbSNP
5g.177295032C=CA1603537340NSD1c.6791C= (p.Ala2264=)
c.2306C= (p.Ala769=)
n.7247C=
n.2080C=
c.7355C= (p.Ala2452=)
n.7061C=
c.7664C= (p.Ala2555=)
c.6857C= (p.Ala2286=)
c.3158C= (p.Ala1053=)
c.7244C= (p.Ala2415=)
c.6608C= (p.Ala2203=)
c.3398C= (p.Ala1133=)
5g.177295032C>GCA362333928NSD1c.6791C>G (p.Ala2264Gly)
c.2306C>G (p.Ala769Gly)
n.7247C>G
n.2080C>G
c.7355C>G (p.Ala2452Gly)
n.7061C>G
c.7664C>G (p.Ala2555Gly)
c.6857C>G (p.Ala2286Gly)
c.3158C>G (p.Ala1053Gly)
c.7244C>G (p.Ala2415Gly)
c.6608C>G (p.Ala2203Gly)
c.3398C>G (p.Ala1133Gly)
5g.177295032C>TCA362333931NSD1c.6791C>T (p.Ala2264Val)
c.2306C>T (p.Ala769Val)
n.7247C>T
n.2080C>T
c.7355C>T (p.Ala2452Val)
n.7061C>T
c.7664C>T (p.Ala2555Val)
c.6857C>T (p.Ala2286Val)
c.3158C>T (p.Ala1053Val)
c.7244C>T (p.Ala2415Val)
c.6608C>T (p.Ala2203Val)
c.3398C>T (p.Ala1133Val)
 dbSNP gnomAD v2 gnomAD v4
5g.177295033C>ACA447962143NSD1c.6792C>A (p.Ala2264=)
c.2307C>A (p.Ala769=)
n.7248C>A
n.2081C>A
c.7356C>A (p.Ala2452=)
n.7062C>A
c.7665C>A (p.Ala2555=)
c.6858C>A (p.Ala2286=)
c.3159C>A (p.Ala1053=)
c.7245C>A (p.Ala2415=)
c.6609C>A (p.Ala2203=)
c.3399C>A (p.Ala1133=)
5g.177295033C>GCA447962145NSD1c.6792C>G (p.Ala2264=)
c.2307C>G (p.Ala769=)
n.7248C>G
n.2081C>G
c.7356C>G (p.Ala2452=)
n.7062C>G
c.7665C>G (p.Ala2555=)
c.6858C>G (p.Ala2286=)
c.3159C>G (p.Ala1053=)
c.7245C>G (p.Ala2415=)
c.6609C>G (p.Ala2203=)
c.3399C>G (p.Ala1133=)
5g.177295033C>TCA447962144NSD1c.6792C>T (p.Ala2264=)
c.2307C>T (p.Ala769=)
n.7248C>T
n.2081C>T
c.7356C>T (p.Ala2452=)
n.7062C>T
c.7665C>T (p.Ala2555=)
c.6858C>T (p.Ala2286=)
c.3159C>T (p.Ala1053=)
c.7245C>T (p.Ala2415=)
c.6609C>T (p.Ala2203=)
c.3399C>T (p.Ala1133=)
5g.177295034T>ACA362333934NSD1c.6793T>A (p.Ser2265Thr)
c.2308T>A (p.Ser770Thr)
n.7249T>A
n.2082T>A
c.7357T>A (p.Ser2453Thr)
n.7063T>A
c.7666T>A (p.Ser2556Thr)
c.6859T>A (p.Ser2287Thr)
c.3160T>A (p.Ser1054Thr)
c.7246T>A (p.Ser2416Thr)
c.6610T>A (p.Ser2204Thr)
c.3400T>A (p.Ser1134Thr)
5g.177295034T>CCA362333935NSD1c.6793T>C (p.Ser2265Pro)
c.2308T>C (p.Ser770Pro)
n.7249T>C
n.2082T>C
c.7357T>C (p.Ser2453Pro)
n.7063T>C
c.7666T>C (p.Ser2556Pro)
c.6859T>C (p.Ser2287Pro)
c.3160T>C (p.Ser1054Pro)
c.7246T>C (p.Ser2416Pro)
c.6610T>C (p.Ser2204Pro)
c.3400T>C (p.Ser1134Pro)
5g.177295034T>GCA362333936NSD1c.6793T>G (p.Ser2265Ala)
c.2308T>G (p.Ser770Ala)
n.7249T>G
n.2082T>G
c.7357T>G (p.Ser2453Ala)
n.7063T>G
c.7666T>G (p.Ser2556Ala)
c.6859T>G (p.Ser2287Ala)
c.3160T>G (p.Ser1054Ala)
c.7246T>G (p.Ser2416Ala)
c.6610T>G (p.Ser2204Ala)
c.3400T>G (p.Ser1134Ala)
5g.177295035C>ACA362333937NSD1c.6794C>A (p.Ser2265Ter)
c.2309C>A (p.Ser770Ter)
n.7250C>A
n.2083C>A
c.7358C>A (p.Ser2453Ter)
n.7064C>A
c.7667C>A (p.Ser2556Ter)
c.6860C>A (p.Ser2287Ter)
c.3161C>A (p.Ser1054Ter)
c.7247C>A (p.Ser2416Ter)
c.6611C>A (p.Ser2204Ter)
c.3401C>A (p.Ser1134Ter)
5g.177295035C>GCA362333939NSD1c.6794C>G (p.Ser2265Ter)
c.2309C>G (p.Ser770Ter)
n.7250C>G
n.2083C>G
c.7358C>G (p.Ser2453Ter)
n.7064C>G
c.7667C>G (p.Ser2556Ter)
c.6860C>G (p.Ser2287Ter)
c.3161C>G (p.Ser1054Ter)
c.7247C>G (p.Ser2416Ter)
c.6611C>G (p.Ser2204Ter)
c.3401C>G (p.Ser1134Ter)
5g.177295035C>TCA362333941NSD1c.6794C>T (p.Ser2265Leu)
c.2309C>T (p.Ser770Leu)
n.7250C>T
n.2083C>T
c.7358C>T (p.Ser2453Leu)
n.7064C>T
c.7667C>T (p.Ser2556Leu)
c.6860C>T (p.Ser2287Leu)
c.3161C>T (p.Ser1054Leu)
c.7247C>T (p.Ser2416Leu)
c.6611C>T (p.Ser2204Leu)
c.3401C>T (p.Ser1134Leu)
5g.177295036A>CCA447962152NSD1c.6795A>C (p.Ser2265=)
c.2310A>C (p.Ser770=)
n.7251A>C
n.2084A>C
c.7359A>C (p.Ser2453=)
n.7065A>C
c.7668A>C (p.Ser2556=)
c.6861A>C (p.Ser2287=)
c.3162A>C (p.Ser1054=)
c.7248A>C (p.Ser2416=)
c.6612A>C (p.Ser2204=)
c.3402A>C (p.Ser1134=)
5g.177295036A>GCA447962154NSD1c.6795A>G (p.Ser2265=)
c.2310A>G (p.Ser770=)
n.7251A>G
n.2084A>G
c.7359A>G (p.Ser2453=)
n.7065A>G
c.7668A>G (p.Ser2556=)
c.6861A>G (p.Ser2287=)
c.3162A>G (p.Ser1054=)
c.7248A>G (p.Ser2416=)
c.6612A>G (p.Ser2204=)
c.3402A>G (p.Ser1134=)
5g.177295036A>TCA447962155NSD1c.6795A>T (p.Ser2265=)
c.2310A>T (p.Ser770=)
n.7251A>T
n.2084A>T
c.7359A>T (p.Ser2453=)
n.7065A>T
c.7668A>T (p.Ser2556=)
c.6861A>T (p.Ser2287=)
c.3162A>T (p.Ser1054=)
c.7248A>T (p.Ser2416=)
c.6612A>T (p.Ser2204=)
c.3402A>T (p.Ser1134=)
5g.177295037G>ACA362333946NSD1c.6796G>A (p.Gly2266Arg)
c.2311G>A (p.Gly771Arg)
n.7252G>A
n.2085G>A
c.7360G>A (p.Gly2454Arg)
n.7066G>A
c.7669G>A (p.Gly2557Arg)
c.6862G>A (p.Gly2288Arg)
c.3163G>A (p.Gly1055Arg)
c.7249G>A (p.Gly2417Arg)
c.6613G>A (p.Gly2205Arg)
c.3403G>A (p.Gly1135Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.177295037G>CCA362333948NSD1c.6796G>C (p.Gly2266Arg)
c.2311G>C (p.Gly771Arg)
n.7252G>C
n.2085G>C
c.7360G>C (p.Gly2454Arg)
n.7066G>C
c.7669G>C (p.Gly2557Arg)
c.6862G>C (p.Gly2288Arg)
c.3163G>C (p.Gly1055Arg)
c.7249G>C (p.Gly2417Arg)
c.6613G>C (p.Gly2205Arg)
c.3403G>C (p.Gly1135Arg)
 ClinVar dbSNP
5g.177295037G=CA1603537343NSD1c.6796G= (p.Gly2266=)
c.2311G= (p.Gly771=)
n.7252G=
n.2085G=
c.7360G= (p.Gly2454=)
n.7066G=
c.7669G= (p.Gly2557=)
c.6862G= (p.Gly2288=)
c.3163G= (p.Gly1055=)
c.7249G= (p.Gly2417=)
c.6613G= (p.Gly2205=)
c.3403G= (p.Gly1135=)
5g.177295037G>TCA362333951NSD1c.6796G>T (p.Gly2266Ter)
c.2311G>T (p.Gly771Ter)
n.7252G>T
n.2085G>T
c.7360G>T (p.Gly2454Ter)
n.7066G>T
c.7669G>T (p.Gly2557Ter)
c.6862G>T (p.Gly2288Ter)
c.3163G>T (p.Gly1055Ter)
c.7249G>T (p.Gly2417Ter)
c.6613G>T (p.Gly2205Ter)
c.3403G>T (p.Gly1135Ter)
5g.177295038G>ACA362333961NSD1c.6797G>A (p.Gly2266Glu)
c.2312G>A (p.Gly771Glu)
n.7253G>A
n.2086G>A
c.7361G>A (p.Gly2454Glu)
n.7067G>A
c.7670G>A (p.Gly2557Glu)
c.6863G>A (p.Gly2288Glu)
c.3164G>A (p.Gly1055Glu)
c.7250G>A (p.Gly2417Glu)
c.6614G>A (p.Gly2205Glu)
c.3404G>A (p.Gly1135Glu)
5g.177295038G>CCA362333955NSD1c.6797G>C (p.Gly2266Ala)
c.2312G>C (p.Gly771Ala)
n.7253G>C
n.2086G>C
c.7361G>C (p.Gly2454Ala)
n.7067G>C
c.7670G>C (p.Gly2557Ala)
c.6863G>C (p.Gly2288Ala)
c.3164G>C (p.Gly1055Ala)
c.7250G>C (p.Gly2417Ala)
c.6614G>C (p.Gly2205Ala)
c.3404G>C (p.Gly1135Ala)
5g.177295038G>TCA362333958NSD1c.6797G>T (p.Gly2266Val)
c.2312G>T (p.Gly771Val)
n.7253G>T
n.2086G>T
c.7361G>T (p.Gly2454Val)
n.7067G>T
c.7670G>T (p.Gly2557Val)
c.6863G>T (p.Gly2288Val)
c.3164G>T (p.Gly1055Val)
c.7250G>T (p.Gly2417Val)
c.6614G>T (p.Gly2205Val)
c.3404G>T (p.Gly1135Val)
5g.177295039A=CA1603537348NSD1c.6798A= (p.Gly2266=)
c.2313A= (p.Gly771=)
n.7254A=
n.2087A=
c.7362A= (p.Gly2454=)
n.7068A=
c.7671A= (p.Gly2557=)
c.6864A= (p.Gly2288=)
c.3165A= (p.Gly1055=)
c.7251A= (p.Gly2417=)
c.6615A= (p.Gly2205=)
c.3405A= (p.Gly1135=)
5g.177295039A>CCA447962157NSD1c.6798A>C (p.Gly2266=)
c.2313A>C (p.Gly771=)
n.7254A>C
n.2087A>C
c.7362A>C (p.Gly2454=)
n.7068A>C
c.7671A>C (p.Gly2557=)
c.6864A>C (p.Gly2288=)
c.3165A>C (p.Gly1055=)
c.7251A>C (p.Gly2417=)
c.6615A>C (p.Gly2205=)
c.3405A>C (p.Gly1135=)
5g.177295039A>GCA447962159NSD1c.6798A>G (p.Gly2266=)
c.2313A>G (p.Gly771=)
n.7254A>G
n.2087A>G
c.7362A>G (p.Gly2454=)
n.7068A>G
c.7671A>G (p.Gly2557=)
c.6864A>G (p.Gly2288=)
c.3165A>G (p.Gly1055=)
c.7251A>G (p.Gly2417=)
c.6615A>G (p.Gly2205=)
c.3405A>G (p.Gly1135=)
5g.177295039A>TCA447962161NSD1c.6798A>T (p.Gly2266=)
c.2313A>T (p.Gly771=)
n.7254A>T
n.2087A>T
c.7362A>T (p.Gly2454=)
n.7068A>T
c.7671A>T (p.Gly2557=)
c.6864A>T (p.Gly2288=)
c.3165A>T (p.Gly1055=)
c.7251A>T (p.Gly2417=)
c.6615A>T (p.Gly2205=)
c.3405A>T (p.Gly1135=)
 dbSNP
5g.177295040A>CCA447962166NSD1c.6799A>C (p.Arg2267=)
c.2314A>C (p.Arg772=)
n.7255A>C
n.2088A>C
c.7363A>C (p.Arg2455=)
n.7069A>C
c.7672A>C (p.Arg2558=)
c.6865A>C (p.Arg2289=)
c.3166A>C (p.Arg1056=)
c.7252A>C (p.Arg2418=)
c.6616A>C (p.Arg2206=)
c.3406A>C (p.Arg1136=)
5g.177295040A>GCA362333963NSD1c.6799A>G (p.Arg2267Gly)
c.2314A>G (p.Arg772Gly)
n.7255A>G
n.2088A>G
c.7363A>G (p.Arg2455Gly)
n.7069A>G
c.7672A>G (p.Arg2558Gly)
c.6865A>G (p.Arg2289Gly)
c.3166A>G (p.Arg1056Gly)
c.7252A>G (p.Arg2418Gly)
c.6616A>G (p.Arg2206Gly)
c.3406A>G (p.Arg1136Gly)
5g.177295040A>TCA362333966NSD1c.6799A>T (p.Arg2267Ter)
c.2314A>T (p.Arg772Ter)
n.7255A>T
n.2088A>T
c.7363A>T (p.Arg2455Ter)
n.7069A>T
c.7672A>T (p.Arg2558Ter)
c.6865A>T (p.Arg2289Ter)
c.3166A>T (p.Arg1056Ter)
c.7252A>T (p.Arg2418Ter)
c.6616A>T (p.Arg2206Ter)
c.3406A>T (p.Arg1136Ter)
5g.177295041G>ACA362333968NSD1c.6800G>A (p.Arg2267Lys)
c.2315G>A (p.Arg772Lys)
n.7256G>A
n.2089G>A
c.7364G>A (p.Arg2455Lys)
n.7070G>A
c.7673G>A (p.Arg2558Lys)
c.6866G>A (p.Arg2289Lys)
c.3167G>A (p.Arg1056Lys)
c.7253G>A (p.Arg2418Lys)
c.6617G>A (p.Arg2206Lys)
c.3407G>A (p.Arg1136Lys)
5g.177295041G>CCA362333971NSD1c.6800G>C (p.Arg2267Thr)
c.2315G>C (p.Arg772Thr)
n.7256G>C
n.2089G>C
c.7364G>C (p.Arg2455Thr)
n.7070G>C
c.7673G>C (p.Arg2558Thr)
c.6866G>C (p.Arg2289Thr)
c.3167G>C (p.Arg1056Thr)
c.7253G>C (p.Arg2418Thr)
c.6617G>C (p.Arg2206Thr)
c.3407G>C (p.Arg1136Thr)
 dbSNP
5g.177295041G>TCA362333976NSD1c.6800G>T (p.Arg2267Ile)
c.2315G>T (p.Arg772Ile)
n.7256G>T
n.2089G>T
c.7364G>T (p.Arg2455Ile)
n.7070G>T
c.7673G>T (p.Arg2558Ile)
c.6866G>T (p.Arg2289Ile)
c.3167G>T (p.Arg1056Ile)
c.7253G>T (p.Arg2418Ile)
c.6617G>T (p.Arg2206Ile)
c.3407G>T (p.Arg1136Ile)
5g.177295042A>CCA362333979NSD1c.6801A>C (p.Arg2267Ser)
c.2316A>C (p.Arg772Ser)
n.7257A>C
n.2090A>C
c.7365A>C (p.Arg2455Ser)
n.7071A>C
c.7674A>C (p.Arg2558Ser)
c.6867A>C (p.Arg2289Ser)
c.3168A>C (p.Arg1056Ser)
c.7254A>C (p.Arg2418Ser)
c.6618A>C (p.Arg2206Ser)
c.3408A>C (p.Arg1136Ser)
5g.177295042A>GCA447962167NSD1c.6801A>G (p.Arg2267=)
c.2316A>G (p.Arg772=)
n.7257A>G
n.2090A>G
c.7365A>G (p.Arg2455=)
n.7071A>G
c.7674A>G (p.Arg2558=)
c.6867A>G (p.Arg2289=)
c.3168A>G (p.Arg1056=)
c.7254A>G (p.Arg2418=)
c.6618A>G (p.Arg2206=)
c.3408A>G (p.Arg1136=)
5g.177295042A>TCA362333982NSD1c.6801A>T (p.Arg2267Ser)
c.2316A>T (p.Arg772Ser)
n.7257A>T
n.2090A>T
c.7365A>T (p.Arg2455Ser)
n.7071A>T
c.7674A>T (p.Arg2558Ser)
c.6867A>T (p.Arg2289Ser)
c.3168A>T (p.Arg1056Ser)
c.7254A>T (p.Arg2418Ser)
c.6618A>T (p.Arg2206Ser)
c.3408A>T (p.Arg1136Ser)
5g.177295043G>ACA362333986NSD1c.6802G>A (p.Ala2268Thr)
c.2317G>A (p.Ala773Thr)
n.7258G>A
n.2091G>A
c.7366G>A (p.Ala2456Thr)
n.7072G>A
c.7675G>A (p.Ala2559Thr)
c.6868G>A (p.Ala2290Thr)
c.3169G>A (p.Ala1057Thr)
c.7255G>A (p.Ala2419Thr)
c.6619G>A (p.Ala2207Thr)
c.3409G>A (p.Ala1137Thr)
 ClinVar
5g.177295043G>CCA362333996NSD1c.6802G>C (p.Ala2268Pro)
c.2317G>C (p.Ala773Pro)
n.7258G>C
n.2091G>C
c.7366G>C (p.Ala2456Pro)
n.7072G>C
c.7675G>C (p.Ala2559Pro)
c.6868G>C (p.Ala2290Pro)
c.3169G>C (p.Ala1057Pro)
c.7255G>C (p.Ala2419Pro)
c.6619G>C (p.Ala2207Pro)
c.3409G>C (p.Ala1137Pro)
5g.177295043G=CA1603537351NSD1c.6802G= (p.Ala2268=)
c.2317G= (p.Ala773=)
n.7258G=
n.2091G=
c.7366G= (p.Ala2456=)
n.7072G=
c.7675G= (p.Ala2559=)
c.6868G= (p.Ala2290=)
c.3169G= (p.Ala1057=)
c.7255G= (p.Ala2419=)
c.6619G= (p.Ala2207=)
c.3409G= (p.Ala1137=)
5g.177295043G>TCA132863253NSD1c.6802G>T (p.Ala2268Ser)
c.2317G>T (p.Ala773Ser)
n.7258G>T
n.2091G>T
c.7366G>T (p.Ala2456Ser)
n.7072G>T
c.7675G>T (p.Ala2559Ser)
c.6868G>T (p.Ala2290Ser)
c.3169G>T (p.Ala1057Ser)
c.7255G>T (p.Ala2419Ser)
c.6619G>T (p.Ala2207Ser)
c.3409G>T (p.Ala1137Ser)
 dbSNP
5g.177295044C>ACA362334003NSD1c.6803C>A (p.Ala2268Asp)
c.2318C>A (p.Ala773Asp)
n.7259C>A
n.2092C>A
c.7367C>A (p.Ala2456Asp)
n.7073C>A
c.7676C>A (p.Ala2559Asp)
c.6869C>A (p.Ala2290Asp)
c.3170C>A (p.Ala1057Asp)
c.7256C>A (p.Ala2419Asp)
c.6620C>A (p.Ala2207Asp)
c.3410C>A (p.Ala1137Asp)
5g.177295044C=CA1603537355NSD1c.6803C= (p.Ala2268=)
c.2318C= (p.Ala773=)
n.7259C=
n.2092C=
c.7367C= (p.Ala2456=)
n.7073C=
c.7676C= (p.Ala2559=)
c.6869C= (p.Ala2290=)
c.3170C= (p.Ala1057=)
c.7256C= (p.Ala2419=)
c.6620C= (p.Ala2207=)
c.3410C= (p.Ala1137=)
5g.177295044C>GCA362334010NSD1c.6803C>G (p.Ala2268Gly)
c.2318C>G (p.Ala773Gly)
n.7259C>G
n.2092C>G
c.7367C>G (p.Ala2456Gly)
n.7073C>G
c.7676C>G (p.Ala2559Gly)
c.6869C>G (p.Ala2290Gly)
c.3170C>G (p.Ala1057Gly)
c.7256C>G (p.Ala2419Gly)
c.6620C>G (p.Ala2207Gly)
c.3410C>G (p.Ala1137Gly)
 dbSNP
5g.177295044C>TCA362334012NSD1c.6803C>T (p.Ala2268Val)
c.2318C>T (p.Ala773Val)
n.7259C>T
n.2092C>T
c.7367C>T (p.Ala2456Val)
n.7073C>T
c.7676C>T (p.Ala2559Val)
c.6869C>T (p.Ala2290Val)
c.3170C>T (p.Ala1057Val)
c.7256C>T (p.Ala2419Val)
c.6620C>T (p.Ala2207Val)
c.3410C>T (p.Ala1137Val)
 dbSNP gnomAD v4
5g.177295045T>ACA447962172NSD1c.6804T>A (p.Ala2268=)
c.2319T>A (p.Ala773=)
n.7260T>A
n.2093T>A
c.7368T>A (p.Ala2456=)
n.7074T>A
c.7677T>A (p.Ala2559=)
c.6870T>A (p.Ala2290=)
c.3171T>A (p.Ala1057=)
c.7257T>A (p.Ala2419=)
c.6621T>A (p.Ala2207=)
c.3411T>A (p.Ala1137=)
 gnomAD v3 gnomAD v4
5g.177295045T>CCA447962173NSD1c.6804T>C (p.Ala2268=)
c.2319T>C (p.Ala773=)
n.7260T>C
n.2093T>C
c.7368T>C (p.Ala2456=)
n.7074T>C
c.7677T>C (p.Ala2559=)
c.6870T>C (p.Ala2290=)
c.3171T>C (p.Ala1057=)
c.7257T>C (p.Ala2419=)
c.6621T>C (p.Ala2207=)
c.3411T>C (p.Ala1137=)
 gnomAD v4
5g.177295045T>GCA447962174NSD1c.6804T>G (p.Ala2268=)
c.2319T>G (p.Ala773=)
n.7260T>G
n.2093T>G
c.7368T>G (p.Ala2456=)
n.7074T>G
c.7677T>G (p.Ala2559=)
c.6870T>G (p.Ala2290=)
c.3171T>G (p.Ala1057=)
c.7257T>G (p.Ala2419=)
c.6621T>G (p.Ala2207=)
c.3411T>G (p.Ala1137=)
5g.177295046T>ACA362334026NSD1c.6805T>A (p.Ser2269Thr)
c.2320T>A (p.Ser774Thr)
n.7261T>A
n.2094T>A
c.7369T>A (p.Ser2457Thr)
n.7075T>A
c.7678T>A (p.Ser2560Thr)
c.6871T>A (p.Ser2291Thr)
c.3172T>A (p.Ser1058Thr)
c.7258T>A (p.Ser2420Thr)
c.6622T>A (p.Ser2208Thr)
c.3412T>A (p.Ser1138Thr)
5g.177295046T>CCA362334019NSD1c.6805T>C (p.Ser2269Pro)
c.2320T>C (p.Ser774Pro)
n.7261T>C
n.2094T>C
c.7369T>C (p.Ser2457Pro)
n.7075T>C
c.7678T>C (p.Ser2560Pro)
c.6871T>C (p.Ser2291Pro)
c.3172T>C (p.Ser1058Pro)
c.7258T>C (p.Ser2420Pro)
c.6622T>C (p.Ser2208Pro)
c.3412T>C (p.Ser1138Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177295046T>GCA362334022NSD1c.6805T>G (p.Ser2269Ala)
c.2320T>G (p.Ser774Ala)
n.7261T>G
n.2094T>G
c.7369T>G (p.Ser2457Ala)
n.7075T>G
c.7678T>G (p.Ser2560Ala)
c.6871T>G (p.Ser2291Ala)
c.3172T>G (p.Ser1058Ala)
c.7258T>G (p.Ser2420Ala)
c.6622T>G (p.Ser2208Ala)
c.3412T>G (p.Ser1138Ala)
5g.177295046T=CA1603537360NSD1c.6805T= (p.Ser2269=)
c.2320T= (p.Ser774=)
n.7261T=
n.2094T=
c.7369T= (p.Ser2457=)
n.7075T=
c.7678T= (p.Ser2560=)
c.6871T= (p.Ser2291=)
c.3172T= (p.Ser1058=)
c.7258T= (p.Ser2420=)
c.6622T= (p.Ser2208=)
c.3412T= (p.Ser1138=)
5g.177295047C>ACA362334031NSD1c.6806C>A (p.Ser2269Tyr)
c.2321C>A (p.Ser774Tyr)
n.7262C>A
n.2095C>A
c.7370C>A (p.Ser2457Tyr)
n.7076C>A
c.7679C>A (p.Ser2560Tyr)
c.6872C>A (p.Ser2291Tyr)
c.3173C>A (p.Ser1058Tyr)
c.7259C>A (p.Ser2420Tyr)
c.6623C>A (p.Ser2208Tyr)
c.3413C>A (p.Ser1138Tyr)
5g.177295047C=CA1603537364NSD1c.6806C= (p.Ser2269=)
c.2321C= (p.Ser774=)
n.7262C=
n.2095C=
c.7370C= (p.Ser2457=)
n.7076C=
c.7679C= (p.Ser2560=)
c.6872C= (p.Ser2291=)
c.3173C= (p.Ser1058=)
c.7259C= (p.Ser2420=)
c.6623C= (p.Ser2208=)
c.3413C= (p.Ser1138=)
5g.177295047C>GCA362334034NSD1c.6806C>G (p.Ser2269Cys)
c.2321C>G (p.Ser774Cys)
n.7262C>G
n.2095C>G
c.7370C>G (p.Ser2457Cys)
n.7076C>G
c.7679C>G (p.Ser2560Cys)
c.6872C>G (p.Ser2291Cys)
c.3173C>G (p.Ser1058Cys)
c.7259C>G (p.Ser2420Cys)
c.6623C>G (p.Ser2208Cys)
c.3413C>G (p.Ser1138Cys)
5g.177295047C>TCA132863254NSD1c.6806C>T (p.Ser2269Phe)
c.2321C>T (p.Ser774Phe)
n.7262C>T
n.2095C>T
c.7370C>T (p.Ser2457Phe)
n.7076C>T
c.7679C>T (p.Ser2560Phe)
c.6872C>T (p.Ser2291Phe)
c.3173C>T (p.Ser1058Phe)
c.7259C>T (p.Ser2420Phe)
c.6623C>T (p.Ser2208Phe)
c.3413C>T (p.Ser1138Phe)
 dbSNP
5g.177295048T>ACA447962178NSD1c.6807T>A (p.Ser2269=)
c.2322T>A (p.Ser774=)
n.7263T>A
n.2096T>A
c.7371T>A (p.Ser2457=)
n.7077T>A
c.7680T>A (p.Ser2560=)
c.6873T>A (p.Ser2291=)
c.3174T>A (p.Ser1058=)
c.7260T>A (p.Ser2420=)
c.6624T>A (p.Ser2208=)
c.3414T>A (p.Ser1138=)
5g.177295048T>CCA447962180NSD1c.6807T>C (p.Ser2269=)
c.2322T>C (p.Ser774=)
n.7263T>C
n.2096T>C
c.7371T>C (p.Ser2457=)
n.7077T>C
c.7680T>C (p.Ser2560=)
c.6873T>C (p.Ser2291=)
c.3174T>C (p.Ser1058=)
c.7260T>C (p.Ser2420=)
c.6624T>C (p.Ser2208=)
c.3414T>C (p.Ser1138=)
5g.177295048T>GCA447962181NSD1c.6807T>G (p.Ser2269=)
c.2322T>G (p.Ser774=)
n.7263T>G
n.2096T>G
c.7371T>G (p.Ser2457=)
n.7077T>G
c.7680T>G (p.Ser2560=)
c.6873T>G (p.Ser2291=)
c.3174T>G (p.Ser1058=)
c.7260T>G (p.Ser2420=)
c.6624T>G (p.Ser2208=)
c.3414T>G (p.Ser1138=)
5g.177295049G>ACA362334041NSD1c.6808G>A (p.Ala2270Thr)
c.2323G>A (p.Ala775Thr)
n.7264G>A
n.2097G>A
c.7372G>A (p.Ala2458Thr)
n.7078G>A
c.7681G>A (p.Ala2561Thr)
c.6874G>A (p.Ala2292Thr)
c.3175G>A (p.Ala1059Thr)
c.7261G>A (p.Ala2421Thr)
c.6625G>A (p.Ala2209Thr)
c.3415G>A (p.Ala1139Thr)
5g.177295049G>CCA362334044NSD1c.6808G>C (p.Ala2270Pro)
c.2323G>C (p.Ala775Pro)
n.7264G>C
n.2097G>C
c.7372G>C (p.Ala2458Pro)
n.7078G>C
c.7681G>C (p.Ala2561Pro)
c.6874G>C (p.Ala2292Pro)
c.3175G>C (p.Ala1059Pro)
c.7261G>C (p.Ala2421Pro)
c.6625G>C (p.Ala2209Pro)
c.3415G>C (p.Ala1139Pro)
5g.177295049G>TCA362334047NSD1c.6808G>T (p.Ala2270Ser)
c.2323G>T (p.Ala775Ser)
n.7264G>T
n.2097G>T
c.7372G>T (p.Ala2458Ser)
n.7078G>T
c.7681G>T (p.Ala2561Ser)
c.6874G>T (p.Ala2292Ser)
c.3175G>T (p.Ala1059Ser)
c.7261G>T (p.Ala2421Ser)
c.6625G>T (p.Ala2209Ser)
c.3415G>T (p.Ala1139Ser)
5g.177295050C>ACA362334052NSD1c.6809C>A (p.Ala2270Glu)
c.2324C>A (p.Ala775Glu)
n.7265C>A
n.2098C>A
c.7373C>A (p.Ala2458Glu)
n.7079C>A
c.7682C>A (p.Ala2561Glu)
c.6875C>A (p.Ala2292Glu)
c.3176C>A (p.Ala1059Glu)
c.7262C>A (p.Ala2421Glu)
c.6626C>A (p.Ala2209Glu)
c.3416C>A (p.Ala1139Glu)
 dbSNP
5g.177295050C>GCA362334054NSD1c.6809C>G (p.Ala2270Gly)
c.2324C>G (p.Ala775Gly)
n.7265C>G
n.2098C>G
c.7373C>G (p.Ala2458Gly)
n.7079C>G
c.7682C>G (p.Ala2561Gly)
c.6875C>G (p.Ala2292Gly)
c.3176C>G (p.Ala1059Gly)
c.7262C>G (p.Ala2421Gly)
c.6626C>G (p.Ala2209Gly)
c.3416C>G (p.Ala1139Gly)
5g.177295050C>TCA362334064NSD1c.6809C>T (p.Ala2270Val)
c.2324C>T (p.Ala775Val)
n.7265C>T
n.2098C>T
c.7373C>T (p.Ala2458Val)
n.7079C>T
c.7682C>T (p.Ala2561Val)
c.6875C>T (p.Ala2292Val)
c.3176C>T (p.Ala1059Val)
c.7262C>T (p.Ala2421Val)
c.6626C>T (p.Ala2209Val)
c.3416C>T (p.Ala1139Val)
 dbSNP
5g.177295051A>CCA447962185NSD1c.6810A>C (p.Ala2270=)
c.2325A>C (p.Ala775=)
n.7266A>C
n.2099A>C
c.7374A>C (p.Ala2458=)
n.7080A>C
c.7683A>C (p.Ala2561=)
c.6876A>C (p.Ala2292=)
c.3177A>C (p.Ala1059=)
c.7263A>C (p.Ala2421=)
c.6627A>C (p.Ala2209=)
c.3417A>C (p.Ala1139=)
5g.177295051A>GCA447962186NSD1c.6810A>G (p.Ala2270=)
c.2325A>G (p.Ala775=)
n.7266A>G
n.2099A>G
c.7374A>G (p.Ala2458=)
n.7080A>G
c.7683A>G (p.Ala2561=)
c.6876A>G (p.Ala2292=)
c.3177A>G (p.Ala1059=)
c.7263A>G (p.Ala2421=)
c.6627A>G (p.Ala2209=)
c.3417A>G (p.Ala1139=)
5g.177295051A>TCA447962187NSD1c.6810A>T (p.Ala2270=)
c.2325A>T (p.Ala775=)
n.7266A>T
n.2099A>T
c.7374A>T (p.Ala2458=)
n.7080A>T
c.7683A>T (p.Ala2561=)
c.6876A>T (p.Ala2292=)
c.3177A>T (p.Ala1059=)
c.7263A>T (p.Ala2421=)
c.6627A>T (p.Ala2209=)
c.3417A>T (p.Ala1139=)
 dbSNP
5g.177295052G>ACA3578160NSD1c.6811G>A (p.Gly2271Arg)
c.2326G>A (p.Gly776Arg)
n.7267G>A
n.2100G>A
c.7375G>A (p.Gly2459Arg)
n.7081G>A
c.7684G>A (p.Gly2562Arg)
c.6877G>A (p.Gly2293Arg)
c.3178G>A (p.Gly1060Arg)
c.7264G>A (p.Gly2422Arg)
c.6628G>A (p.Gly2210Arg)
c.3418G>A (p.Gly1140Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177295052G>CCA362334070NSD1c.6811G>C (p.Gly2271Arg)
c.2326G>C (p.Gly776Arg)
n.7267G>C
n.2100G>C
c.7375G>C (p.Gly2459Arg)
n.7081G>C
c.7684G>C (p.Gly2562Arg)
c.6877G>C (p.Gly2293Arg)
c.3178G>C (p.Gly1060Arg)
c.7264G>C (p.Gly2422Arg)
c.6628G>C (p.Gly2210Arg)
c.3418G>C (p.Gly1140Arg)
 ClinVar
5g.177295052G=CA1603537370NSD1c.6811G= (p.Gly2271=)
c.2326G= (p.Gly776=)
n.7267G=
n.2100G=
c.7375G= (p.Gly2459=)
n.7081G=
c.7684G= (p.Gly2562=)
c.6877G= (p.Gly2293=)
c.3178G= (p.Gly1060=)
c.7264G= (p.Gly2422=)
c.6628G= (p.Gly2210=)
c.3418G= (p.Gly1140=)
5g.177295052G>TCA362334071NSD1c.6811G>T (p.Gly2271Trp)
c.2326G>T (p.Gly776Trp)
n.7267G>T
n.2100G>T
c.7375G>T (p.Gly2459Trp)
n.7081G>T
c.7684G>T (p.Gly2562Trp)
c.6877G>T (p.Gly2293Trp)
c.3178G>T (p.Gly1060Trp)
c.7264G>T (p.Gly2422Trp)
c.6628G>T (p.Gly2210Trp)
c.3418G>T (p.Gly1140Trp)
5g.177295053G>ACA362334074NSD1c.6812G>A (p.Gly2271Glu)
c.2327G>A (p.Gly776Glu)
n.7268G>A
n.2101G>A
c.7376G>A (p.Gly2459Glu)
n.7082G>A
c.7685G>A (p.Gly2562Glu)
c.6878G>A (p.Gly2293Glu)
c.3179G>A (p.Gly1060Glu)
c.7265G>A (p.Gly2422Glu)
c.6629G>A (p.Gly2210Glu)
c.3419G>A (p.Gly1140Glu)
5g.177295053G>CCA362334081NSD1c.6812G>C (p.Gly2271Ala)
c.2327G>C (p.Gly776Ala)
n.7268G>C
n.2101G>C
c.7376G>C (p.Gly2459Ala)
n.7082G>C
c.7685G>C (p.Gly2562Ala)
c.6878G>C (p.Gly2293Ala)
c.3179G>C (p.Gly1060Ala)
c.7265G>C (p.Gly2422Ala)
c.6629G>C (p.Gly2210Ala)
c.3419G>C (p.Gly1140Ala)
5g.177295053G>TCA362334076NSD1c.6812G>T (p.Gly2271Val)
c.2327G>T (p.Gly776Val)
n.7268G>T
n.2101G>T
c.7376G>T (p.Gly2459Val)
n.7082G>T
c.7685G>T (p.Gly2562Val)
c.6878G>T (p.Gly2293Val)
c.3179G>T (p.Gly1060Val)
c.7265G>T (p.Gly2422Val)
c.6629G>T (p.Gly2210Val)
c.3419G>T (p.Gly1140Val)
5g.177295054G>ACA447962191NSD1c.6813G>A (p.Gly2271=)
c.2328G>A (p.Gly776=)
n.7269G>A
n.2102G>A
c.7377G>A (p.Gly2459=)
n.7083G>A
c.7686G>A (p.Gly2562=)
c.6879G>A (p.Gly2293=)
c.3180G>A (p.Gly1060=)
c.7266G>A (p.Gly2422=)
c.6630G>A (p.Gly2210=)
c.3420G>A (p.Gly1140=)
 gnomAD v4
5g.177295054G>CCA447962192NSD1c.6813G>C (p.Gly2271=)
c.2328G>C (p.Gly776=)
n.7269G>C
n.2102G>C
c.7377G>C (p.Gly2459=)
n.7083G>C
c.7686G>C (p.Gly2562=)
c.6879G>C (p.Gly2293=)
c.3180G>C (p.Gly1060=)
c.7266G>C (p.Gly2422=)
c.6630G>C (p.Gly2210=)
c.3420G>C (p.Gly1140=)
5g.177295054G=CA1603537373NSD1c.6813G= (p.Gly2271=)
c.2328G= (p.Gly776=)
n.7269G=
n.2102G=
c.7377G= (p.Gly2459=)
n.7083G=
c.7686G= (p.Gly2562=)
c.6879G= (p.Gly2293=)
c.3180G= (p.Gly1060=)
c.7266G= (p.Gly2422=)
c.6630G= (p.Gly2210=)
c.3420G= (p.Gly1140=)
5g.177295054G>TCA447962193NSD1c.6813G>T (p.Gly2271=)
c.2328G>T (p.Gly776=)
n.7269G>T
n.2102G>T
c.7377G>T (p.Gly2459=)
n.7083G>T
c.7686G>T (p.Gly2562=)
c.6879G>T (p.Gly2293=)
c.3180G>T (p.Gly1060=)
c.7266G>T (p.Gly2422=)
c.6630G>T (p.Gly2210=)
c.3420G>T (p.Gly1140=)
 dbSNP gnomAD v4
5g.177295055G>ACA362334086NSD1c.6814G>A (p.Ala2272Thr)
c.2329G>A (p.Ala777Thr)
n.7270G>A
n.2103G>A
c.7378G>A (p.Ala2460Thr)
n.7084G>A
c.7687G>A (p.Ala2563Thr)
c.6880G>A (p.Ala2294Thr)
c.3181G>A (p.Ala1061Thr)
c.7267G>A (p.Ala2423Thr)
c.6631G>A (p.Ala2211Thr)
c.3421G>A (p.Ala1141Thr)
 dbSNP gnomAD v2 gnomAD v4
5g.177295055G>CCA362334095NSD1c.6814G>C (p.Ala2272Pro)
c.2329G>C (p.Ala777Pro)
n.7270G>C
n.2103G>C
c.7378G>C (p.Ala2460Pro)
n.7084G>C
c.7687G>C (p.Ala2563Pro)
c.6880G>C (p.Ala2294Pro)
c.3181G>C (p.Ala1061Pro)
c.7267G>C (p.Ala2423Pro)
c.6631G>C (p.Ala2211Pro)
c.3421G>C (p.Ala1141Pro)
5g.177295055G=CA1603537377NSD1c.6814G= (p.Ala2272=)
c.2329G= (p.Ala777=)
n.7270G=
n.2103G=
c.7378G= (p.Ala2460=)
n.7084G=
c.7687G= (p.Ala2563=)
c.6880G= (p.Ala2294=)
c.3181G= (p.Ala1061=)
c.7267G= (p.Ala2423=)
c.6631G= (p.Ala2211=)
c.3421G= (p.Ala1141=)
5g.177295055G>TCA362334092NSD1c.6814G>T (p.Ala2272Ser)
c.2329G>T (p.Ala777Ser)
n.7270G>T
n.2103G>T
c.7378G>T (p.Ala2460Ser)
n.7084G>T
c.7687G>T (p.Ala2563Ser)
c.6880G>T (p.Ala2294Ser)
c.3181G>T (p.Ala1061Ser)
c.7267G>T (p.Ala2423Ser)
c.6631G>T (p.Ala2211Ser)
c.3421G>T (p.Ala1141Ser)
 gnomAD v4
5g.177295056C>ACA362334100NSD1c.6815C>A (p.Ala2272Asp)
c.2330C>A (p.Ala777Asp)
n.7271C>A
n.2104C>A
c.7379C>A (p.Ala2460Asp)
n.7085C>A
c.7688C>A (p.Ala2563Asp)
c.6881C>A (p.Ala2294Asp)
c.3182C>A (p.Ala1061Asp)
c.7268C>A (p.Ala2423Asp)
c.6632C>A (p.Ala2211Asp)
c.3422C>A (p.Ala1141Asp)
5g.177295056C>GCA362334103NSD1c.6815C>G (p.Ala2272Gly)
c.2330C>G (p.Ala777Gly)
n.7271C>G
n.2104C>G
c.7379C>G (p.Ala2460Gly)
n.7085C>G
c.7688C>G (p.Ala2563Gly)
c.6881C>G (p.Ala2294Gly)
c.3182C>G (p.Ala1061Gly)
c.7268C>G (p.Ala2423Gly)
c.6632C>G (p.Ala2211Gly)
c.3422C>G (p.Ala1141Gly)
5g.177295056C>TCA362334106NSD1c.6815C>T (p.Ala2272Val)
c.2330C>T (p.Ala777Val)
n.7271C>T
n.2104C>T
c.7379C>T (p.Ala2460Val)
n.7085C>T
c.7688C>T (p.Ala2563Val)
c.6881C>T (p.Ala2294Val)
c.3182C>T (p.Ala1061Val)
c.7268C>T (p.Ala2423Val)
c.6632C>T (p.Ala2211Val)
c.3422C>T (p.Ala1141Val)
 gnomAD v4
5g.177295057T>ACA447962195NSD1c.6816T>A (p.Ala2272=)
c.2331T>A (p.Ala777=)
n.7272T>A
n.2105T>A
c.7380T>A (p.Ala2460=)
n.7086T>A
c.7689T>A (p.Ala2563=)
c.6882T>A (p.Ala2294=)
c.3183T>A (p.Ala1061=)
c.7269T>A (p.Ala2423=)
c.6633T>A (p.Ala2211=)
c.3423T>A (p.Ala1141=)
 dbSNP gnomAD v2 gnomAD v4
5g.177295057T>CCA447962196NSD1c.6816T>C (p.Ala2272=)
c.2331T>C (p.Ala777=)
n.7272T>C
n.2105T>C
c.7380T>C (p.Ala2460=)
n.7086T>C
c.7689T>C (p.Ala2563=)
c.6882T>C (p.Ala2294=)
c.3183T>C (p.Ala1061=)
c.7269T>C (p.Ala2423=)
c.6633T>C (p.Ala2211=)
c.3423T>C (p.Ala1141=)
 gnomAD v4
5g.177295057T>GCA447962198NSD1c.6816T>G (p.Ala2272=)
c.2331T>G (p.Ala777=)
n.7272T>G
n.2105T>G
c.7380T>G (p.Ala2460=)
n.7086T>G
c.7689T>G (p.Ala2563=)
c.6882T>G (p.Ala2294=)
c.3183T>G (p.Ala1061=)
c.7269T>G (p.Ala2423=)
c.6633T>G (p.Ala2211=)
c.3423T>G (p.Ala1141=)
5g.177295057T=CA1603537383NSD1c.6816T= (p.Ala2272=)
c.2331T= (p.Ala777=)
n.7272T=
n.2105T=
c.7380T= (p.Ala2460=)
n.7086T=
c.7689T= (p.Ala2563=)
c.6882T= (p.Ala2294=)
c.3183T= (p.Ala1061=)
c.7269T= (p.Ala2423=)
c.6633T= (p.Ala2211=)
c.3423T= (p.Ala1141=)
5g.177295058G>ACA3578161NSD1c.6817G>A (p.Glu2273Lys)
c.2332G>A (p.Glu778Lys)
n.7273G>A
n.2106G>A
c.7381G>A (p.Glu2461Lys)
n.7087G>A
c.7690G>A (p.Glu2564Lys)
c.6883G>A (p.Glu2295Lys)
c.3184G>A (p.Glu1062Lys)
c.7270G>A (p.Glu2424Lys)
c.6634G>A (p.Glu2212Lys)
c.3424G>A (p.Glu1142Lys)
 dbSNP ExAC gnomAD v2
5g.177295058G>CCA362334113NSD1c.6817G>C (p.Glu2273Gln)
c.2332G>C (p.Glu778Gln)
n.7273G>C
n.2106G>C
c.7381G>C (p.Glu2461Gln)
n.7087G>C
c.7690G>C (p.Glu2564Gln)
c.6883G>C (p.Glu2295Gln)
c.3184G>C (p.Glu1062Gln)
c.7270G>C (p.Glu2424Gln)
c.6634G>C (p.Glu2212Gln)
c.3424G>C (p.Glu1142Gln)
5g.177295058G=CA1603537390NSD1c.6817G= (p.Glu2273=)
c.2332G= (p.Glu778=)
n.7273G=
n.2106G=
c.7381G= (p.Glu2461=)
n.7087G=
c.7690G= (p.Glu2564=)
c.6883G= (p.Glu2295=)
c.3184G= (p.Glu1062=)
c.7270G= (p.Glu2424=)
c.6634G= (p.Glu2212=)
c.3424G= (p.Glu1142=)
5g.177295058G>TCA362334114NSD1c.6817G>T (p.Glu2273Ter)
c.2332G>T (p.Glu778Ter)
n.7273G>T
n.2106G>T
c.7381G>T (p.Glu2461Ter)
n.7087G>T
c.7690G>T (p.Glu2564Ter)
c.6883G>T (p.Glu2295Ter)
c.3184G>T (p.Glu1062Ter)
c.7270G>T (p.Glu2424Ter)
c.6634G>T (p.Glu2212Ter)
c.3424G>T (p.Glu1142Ter)
 ClinVar dbSNP
5g.177295059A>CCA362334115NSD1c.6818A>C (p.Glu2273Ala)
c.2333A>C (p.Glu778Ala)
n.7274A>C
n.2107A>C
c.7382A>C (p.Glu2461Ala)
n.7088A>C
c.7691A>C (p.Glu2564Ala)
c.6884A>C (p.Glu2295Ala)
c.3185A>C (p.Glu1062Ala)
c.7271A>C (p.Glu2424Ala)
c.6635A>C (p.Glu2212Ala)
c.3425A>C (p.Glu1142Ala)
5g.177295059A>GCA362334116NSD1c.6818A>G (p.Glu2273Gly)
c.2333A>G (p.Glu778Gly)
n.7274A>G
n.2107A>G
c.7382A>G (p.Glu2461Gly)
n.7088A>G
c.7691A>G (p.Glu2564Gly)
c.6884A>G (p.Glu2295Gly)
c.3185A>G (p.Glu1062Gly)
c.7271A>G (p.Glu2424Gly)
c.6635A>G (p.Glu2212Gly)
c.3425A>G (p.Glu1142Gly)
 dbSNP
5g.177295059A>TCA362334117NSD1c.6818A>T (p.Glu2273Val)
c.2333A>T (p.Glu778Val)
n.7274A>T
n.2107A>T
c.7382A>T (p.Glu2461Val)
n.7088A>T
c.7691A>T (p.Glu2564Val)
c.6884A>T (p.Glu2295Val)
c.3185A>T (p.Glu1062Val)
c.7271A>T (p.Glu2424Val)
c.6635A>T (p.Glu2212Val)
c.3425A>T (p.Glu1142Val)
5g.177295060G>ACA447962201NSD1c.6819G>A (p.Glu2273=)
c.2334G>A (p.Glu778=)
n.7275G>A
n.2108G>A
c.7383G>A (p.Glu2461=)
n.7089G>A
c.7692G>A (p.Glu2564=)
c.6885G>A (p.Glu2295=)
c.3186G>A (p.Glu1062=)
c.7272G>A (p.Glu2424=)
c.6636G>A (p.Glu2212=)
c.3426G>A (p.Glu1142=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177295060G>CCA362334119NSD1c.6819G>C (p.Glu2273Asp)
c.2334G>C (p.Glu778Asp)
n.7275G>C
n.2108G>C
c.7383G>C (p.Glu2461Asp)
n.7089G>C
c.7692G>C (p.Glu2564Asp)
c.6885G>C (p.Glu2295Asp)
c.3186G>C (p.Glu1062Asp)
c.7272G>C (p.Glu2424Asp)
c.6636G>C (p.Glu2212Asp)
c.3426G>C (p.Glu1142Asp)
5g.177295060G=CA1603537393NSD1c.6819G= (p.Glu2273=)
c.2334G= (p.Glu778=)
n.7275G=
n.2108G=
c.7383G= (p.Glu2461=)
n.7089G=
c.7692G= (p.Glu2564=)
c.6885G= (p.Glu2295=)
c.3186G= (p.Glu1062=)
c.7272G= (p.Glu2424=)
c.6636G= (p.Glu2212=)
c.3426G= (p.Glu1142=)
5g.177295060G>TCA362334124NSD1c.6819G>T (p.Glu2273Asp)
c.2334G>T (p.Glu778Asp)
n.7275G>T
n.2108G>T
c.7383G>T (p.Glu2461Asp)
n.7089G>T
c.7692G>T (p.Glu2564Asp)
c.6885G>T (p.Glu2295Asp)
c.3186G>T (p.Glu1062Asp)
c.7272G>T (p.Glu2424Asp)
c.6636G>T (p.Glu2212Asp)
c.3426G>T (p.Glu1142Asp)
5g.177295061C>ACA362334131NSD1c.6820C>A (p.Gln2274Lys)
c.2335C>A (p.Gln779Lys)
n.7276C>A
n.2109C>A
c.7384C>A (p.Gln2462Lys)
n.7090C>A
c.7693C>A (p.Gln2565Lys)
c.6886C>A (p.Gln2296Lys)
c.3187C>A (p.Gln1063Lys)
c.7273C>A (p.Gln2425Lys)
c.6637C>A (p.Gln2213Lys)
c.3427C>A (p.Gln1143Lys)
 dbSNP
5g.177295061C=CA1603537397NSD1c.6820C= (p.Gln2274=)
c.2335C= (p.Gln779=)
n.7276C=
n.2109C=
c.7384C= (p.Gln2462=)
n.7090C=
c.7693C= (p.Gln2565=)
c.6886C= (p.Gln2296=)
c.3187C= (p.Gln1063=)
c.7273C= (p.Gln2425=)
c.6637C= (p.Gln2213=)
c.3427C= (p.Gln1143=)
5g.177295061C>GCA3578162NSD1c.6820C>G (p.Gln2274Glu)
c.2335C>G (p.Gln779Glu)
n.7276C>G
n.2109C>G
c.7384C>G (p.Gln2462Glu)
n.7090C>G
c.7693C>G (p.Gln2565Glu)
c.6886C>G (p.Gln2296Glu)
c.3187C>G (p.Gln1063Glu)
c.7273C>G (p.Gln2425Glu)
c.6637C>G (p.Gln2213Glu)
c.3427C>G (p.Gln1143Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177295061C>TCA362334127NSD1c.6820C>T (p.Gln2274Ter)
c.2335C>T (p.Gln779Ter)
n.7276C>T
n.2109C>T
c.7384C>T (p.Gln2462Ter)
n.7090C>T
c.7693C>T (p.Gln2565Ter)
c.6886C>T (p.Gln2296Ter)
c.3187C>T (p.Gln1063Ter)
c.7273C>T (p.Gln2425Ter)
c.6637C>T (p.Gln2213Ter)
c.3427C>T (p.Gln1143Ter)
 dbSNP
5g.177295062A>CCA362334135NSD1c.6821A>C (p.Gln2274Pro)
c.2336A>C (p.Gln779Pro)
n.7277A>C
n.2110A>C
c.7385A>C (p.Gln2462Pro)
n.7091A>C
c.7694A>C (p.Gln2565Pro)
c.6887A>C (p.Gln2296Pro)
c.3188A>C (p.Gln1063Pro)
c.7274A>C (p.Gln2425Pro)
c.6638A>C (p.Gln2213Pro)
c.3428A>C (p.Gln1143Pro)
5g.177295062A>GCA362334138NSD1c.6821A>G (p.Gln2274Arg)
c.2336A>G (p.Gln779Arg)
n.7277A>G
n.2110A>G
c.7385A>G (p.Gln2462Arg)
n.7091A>G
c.7694A>G (p.Gln2565Arg)
c.6887A>G (p.Gln2296Arg)
c.3188A>G (p.Gln1063Arg)
c.7274A>G (p.Gln2425Arg)
c.6638A>G (p.Gln2213Arg)
c.3428A>G (p.Gln1143Arg)
5g.177295062A>TCA362334145NSD1c.6821A>T (p.Gln2274Leu)
c.2336A>T (p.Gln779Leu)
n.7277A>T
n.2110A>T
c.7385A>T (p.Gln2462Leu)
n.7091A>T
c.7694A>T (p.Gln2565Leu)
c.6887A>T (p.Gln2296Leu)
c.3188A>T (p.Gln1063Leu)
c.7274A>T (p.Gln2425Leu)
c.6638A>T (p.Gln2213Leu)
c.3428A>T (p.Gln1143Leu)
5g.177295063G>ACA447962207NSD1c.6822G>A (p.Gln2274=)
c.2337G>A (p.Gln779=)
n.7278G>A
n.2111G>A
c.7386G>A (p.Gln2462=)
n.7092G>A
c.7695G>A (p.Gln2565=)
c.6888G>A (p.Gln2296=)
c.3189G>A (p.Gln1063=)
c.7275G>A (p.Gln2425=)
c.6639G>A (p.Gln2213=)
c.3429G>A (p.Gln1143=)
 dbSNP
5g.177295063G>CCA362334149NSD1c.6822G>C (p.Gln2274His)
c.2337G>C (p.Gln779His)
n.7278G>C
n.2111G>C
c.7386G>C (p.Gln2462His)
n.7092G>C
c.7695G>C (p.Gln2565His)
c.6888G>C (p.Gln2296His)
c.3189G>C (p.Gln1063His)
c.7275G>C (p.Gln2425His)
c.6639G>C (p.Gln2213His)
c.3429G>C (p.Gln1143His)
5g.177295063G>TCA362334158NSD1c.6822G>T (p.Gln2274His)
c.2337G>T (p.Gln779His)
n.7278G>T
n.2111G>T
c.7386G>T (p.Gln2462His)
n.7092G>T
c.7695G>T (p.Gln2565His)
c.6888G>T (p.Gln2296His)
c.3189G>T (p.Gln1063His)
c.7275G>T (p.Gln2425His)
c.6639G>T (p.Gln2213His)
c.3429G>T (p.Gln1143His)
5g.177295064A=CA1603537400NSD1c.6823A= (p.Thr2275=)
c.2338A= (p.Thr780=)
n.7279A=
n.2112A=
c.7387A= (p.Thr2463=)
n.7093A=
c.7696A= (p.Thr2566=)
c.6889A= (p.Thr2297=)
c.3190A= (p.Thr1064=)
c.7276A= (p.Thr2426=)
c.6640A= (p.Thr2214=)
c.3430A= (p.Thr1144=)
5g.177295064A>CCA362334160NSD1c.6823A>C (p.Thr2275Pro)
c.2338A>C (p.Thr780Pro)
n.7279A>C
n.2112A>C
c.7387A>C (p.Thr2463Pro)
n.7093A>C
c.7696A>C (p.Thr2566Pro)
c.6889A>C (p.Thr2297Pro)
c.3190A>C (p.Thr1064Pro)
c.7276A>C (p.Thr2426Pro)
c.6640A>C (p.Thr2214Pro)
c.3430A>C (p.Thr1144Pro)
 dbSNP
5g.177295064A>GCA3578163NSD1c.6823A>G (p.Thr2275Ala)
c.2338A>G (p.Thr780Ala)
n.7279A>G
n.2112A>G
c.7387A>G (p.Thr2463Ala)
n.7093A>G
c.7696A>G (p.Thr2566Ala)
c.6889A>G (p.Thr2297Ala)
c.3190A>G (p.Thr1064Ala)
c.7276A>G (p.Thr2426Ala)
c.6640A>G (p.Thr2214Ala)
c.3430A>G (p.Thr1144Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.177295064A>TCA362334164NSD1c.6823A>T (p.Thr2275Ser)
c.2338A>T (p.Thr780Ser)
n.7279A>T
n.2112A>T
c.7387A>T (p.Thr2463Ser)
n.7093A>T
c.7696A>T (p.Thr2566Ser)
c.6889A>T (p.Thr2297Ser)
c.3190A>T (p.Thr1064Ser)
c.7276A>T (p.Thr2426Ser)
c.6640A>T (p.Thr2214Ser)
c.3430A>T (p.Thr1144Ser)
5g.177295065C>ACA362334165NSD1c.6824C>A (p.Thr2275Asn)
c.2339C>A (p.Thr780Asn)
n.7280C>A
n.2113C>A
c.7388C>A (p.Thr2463Asn)
n.7094C>A
c.7697C>A (p.Thr2566Asn)
c.6890C>A (p.Thr2297Asn)
c.3191C>A (p.Thr1064Asn)
c.7277C>A (p.Thr2426Asn)
c.6641C>A (p.Thr2214Asn)
c.3431C>A (p.Thr1144Asn)
5g.177295065C>GCA362334166NSD1c.6824C>G (p.Thr2275Ser)
c.2339C>G (p.Thr780Ser)
n.7280C>G
n.2113C>G
c.7388C>G (p.Thr2463Ser)
n.7094C>G
c.7697C>G (p.Thr2566Ser)
c.6890C>G (p.Thr2297Ser)
c.3191C>G (p.Thr1064Ser)
c.7277C>G (p.Thr2426Ser)
c.6641C>G (p.Thr2214Ser)
c.3431C>G (p.Thr1144Ser)
5g.177295065C>TCA362334168NSD1c.6824C>T (p.Thr2275Ile)
c.2339C>T (p.Thr780Ile)
n.7280C>T
n.2113C>T
c.7388C>T (p.Thr2463Ile)
n.7094C>T
c.7697C>T (p.Thr2566Ile)
c.6890C>T (p.Thr2297Ile)
c.3191C>T (p.Thr1064Ile)
c.7277C>T (p.Thr2426Ile)
c.6641C>T (p.Thr2214Ile)
c.3431C>T (p.Thr1144Ile)
5g.177295065_177295078delCA2676692120NSD1c.6824_6837del (p.Thr2275LysfsTer?)
c.2339_2352del (p.Thr780LysfsTer?)
n.7280_7293del
n.2113_2126del
c.7388_7401del (p.Thr2463LysfsTer?)
n.7094_7107del
c.7697_7710del (p.Thr2566LysfsTer?)
c.6890_6903del (p.Thr2297LysfsTer?)
c.3191_3204del (p.Thr1064LysfsTer?)
c.7277_7290del (p.Thr2426LysfsTer?)
c.6641_6654del (p.Thr2214LysfsTer?)
c.3431_3444del (p.Thr1144LysfsTer?)
 gnomAD v4
5g.177295066C>ACA447962209NSD1c.6825C>A (p.Thr2275=)
c.2340C>A (p.Thr780=)
n.7281C>A
n.2114C>A
c.7389C>A (p.Thr2463=)
n.7095C>A
c.7698C>A (p.Thr2566=)
c.6891C>A (p.Thr2297=)
c.3192C>A (p.Thr1064=)
c.7278C>A (p.Thr2426=)
c.6642C>A (p.Thr2214=)
c.3432C>A (p.Thr1144=)
 dbSNP gnomAD v4
5g.177295066C>GCA447962210NSD1c.6825C>G (p.Thr2275=)
c.2340C>G (p.Thr780=)
n.7281C>G
n.2114C>G
c.7389C>G (p.Thr2463=)
n.7095C>G
c.7698C>G (p.Thr2566=)
c.6891C>G (p.Thr2297=)
c.3192C>G (p.Thr1064=)
c.7278C>G (p.Thr2426=)
c.6642C>G (p.Thr2214=)
c.3432C>G (p.Thr1144=)
5g.177295066C>TCA447962211NSD1c.6825C>T (p.Thr2275=)
c.2340C>T (p.Thr780=)
n.7281C>T
n.2114C>T
c.7389C>T (p.Thr2463=)
n.7095C>T
c.7698C>T (p.Thr2566=)
c.6891C>T (p.Thr2297=)
c.3192C>T (p.Thr1064=)
c.7278C>T (p.Thr2426=)
c.6642C>T (p.Thr2214=)
c.3432C>T (p.Thr1144=)
5g.177295067C>ACA362334174NSD1c.6826C>A (p.Pro2276Thr)
c.2341C>A (p.Pro781Thr)
n.7282C>A
n.2115C>A
c.7390C>A (p.Pro2464Thr)
n.7096C>A
c.7699C>A (p.Pro2567Thr)
c.6892C>A (p.Pro2298Thr)
c.3193C>A (p.Pro1065Thr)
c.7279C>A (p.Pro2427Thr)
c.6643C>A (p.Pro2215Thr)
c.3433C>A (p.Pro1145Thr)
5g.177295067C>GCA362334172NSD1c.6826C>G (p.Pro2276Ala)
c.2341C>G (p.Pro781Ala)
n.7282C>G
n.2115C>G
c.7390C>G (p.Pro2464Ala)
n.7096C>G
c.7699C>G (p.Pro2567Ala)
c.6892C>G (p.Pro2298Ala)
c.3193C>G (p.Pro1065Ala)
c.7279C>G (p.Pro2427Ala)
c.6643C>G (p.Pro2215Ala)
c.3433C>G (p.Pro1145Ala)
5g.177295067C>TCA362334171NSD1c.6826C>T (p.Pro2276Ser)
c.2341C>T (p.Pro781Ser)
n.7282C>T
n.2115C>T
c.7390C>T (p.Pro2464Ser)
n.7096C>T
c.7699C>T (p.Pro2567Ser)
c.6892C>T (p.Pro2298Ser)
c.3193C>T (p.Pro1065Ser)
c.7279C>T (p.Pro2427Ser)
c.6643C>T (p.Pro2215Ser)
c.3433C>T (p.Pro1145Ser)
5g.177295068C>ACA362334177NSD1c.6827C>A (p.Pro2276Gln)
c.2342C>A (p.Pro781Gln)
n.7283C>A
n.2116C>A
c.7391C>A (p.Pro2464Gln)
n.7097C>A
c.7700C>A (p.Pro2567Gln)
c.6893C>A (p.Pro2298Gln)
c.3194C>A (p.Pro1065Gln)
c.7280C>A (p.Pro2427Gln)
c.6644C>A (p.Pro2215Gln)
c.3434C>A (p.Pro1145Gln)
5g.177295068C=CA1603537405NSD1c.6827C= (p.Pro2276=)
c.2342C= (p.Pro781=)
n.7283C=
n.2116C=
c.7391C= (p.Pro2464=)
n.7097C=
c.7700C= (p.Pro2567=)
c.6893C= (p.Pro2298=)
c.3194C= (p.Pro1065=)
c.7280C= (p.Pro2427=)
c.6644C= (p.Pro2215=)
c.3434C= (p.Pro1145=)
5g.177295068C>GCA132863273NSD1c.6827C>G (p.Pro2276Arg)
c.2342C>G (p.Pro781Arg)
n.7283C>G
n.2116C>G
c.7391C>G (p.Pro2464Arg)
n.7097C>G
c.7700C>G (p.Pro2567Arg)
c.6893C>G (p.Pro2298Arg)
c.3194C>G (p.Pro1065Arg)
c.7280C>G (p.Pro2427Arg)
c.6644C>G (p.Pro2215Arg)
c.3434C>G (p.Pro1145Arg)
 ClinVar dbSNP
5g.177295068C>TCA362334179NSD1c.6827C>T (p.Pro2276Leu)
c.2342C>T (p.Pro781Leu)
n.7283C>T
n.2116C>T
c.7391C>T (p.Pro2464Leu)
n.7097C>T
c.7700C>T (p.Pro2567Leu)
c.6893C>T (p.Pro2298Leu)
c.3194C>T (p.Pro1065Leu)
c.7280C>T (p.Pro2427Leu)
c.6644C>T (p.Pro2215Leu)
c.3434C>T (p.Pro1145Leu)
5g.177295069A>CCA447962212NSD1c.6828A>C (p.Pro2276=)
c.2343A>C (p.Pro781=)
n.7284A>C
n.2117A>C
c.7392A>C (p.Pro2464=)
n.7098A>C
c.7701A>C (p.Pro2567=)
c.6894A>C (p.Pro2298=)
c.3195A>C (p.Pro1065=)
c.7281A>C (p.Pro2427=)
c.6645A>C (p.Pro2215=)
c.3435A>C (p.Pro1145=)
5g.177295069A>GCA447962214NSD1c.6828A>G (p.Pro2276=)
c.2343A>G (p.Pro781=)
n.7284A>G
n.2117A>G
c.7392A>G (p.Pro2464=)
n.7098A>G
c.7701A>G (p.Pro2567=)
c.6894A>G (p.Pro2298=)
c.3195A>G (p.Pro1065=)
c.7281A>G (p.Pro2427=)
c.6645A>G (p.Pro2215=)
c.3435A>G (p.Pro1145=)
5g.177295069A>TCA447962213NSD1c.6828A>T (p.Pro2276=)
c.2343A>T (p.Pro781=)
n.7284A>T
n.2117A>T
c.7392A>T (p.Pro2464=)
n.7098A>T
c.7701A>T (p.Pro2567=)
c.6894A>T (p.Pro2298=)
c.3195A>T (p.Pro1065=)
c.7281A>T (p.Pro2427=)
c.6645A>T (p.Pro2215=)
c.3435A>T (p.Pro1145=)
5g.177295070G>ACA132863291NSD1c.6829G>A (p.Gly2277Arg)
c.2344G>A (p.Gly782Arg)
n.7285G>A
n.2118G>A
c.7393G>A (p.Gly2465Arg)
n.7099G>A
c.7702G>A (p.Gly2568Arg)
c.6895G>A (p.Gly2299Arg)
c.3196G>A (p.Gly1066Arg)
c.7282G>A (p.Gly2428Arg)
c.6646G>A (p.Gly2216Arg)
c.3436G>A (p.Gly1146Arg)
 dbSNP
5g.177295070G>CCA362334181NSD1c.6829G>C (p.Gly2277Arg)
c.2344G>C (p.Gly782Arg)
n.7285G>C
n.2118G>C
c.7393G>C (p.Gly2465Arg)
n.7099G>C
c.7702G>C (p.Gly2568Arg)
c.6895G>C (p.Gly2299Arg)
c.3196G>C (p.Gly1066Arg)
c.7282G>C (p.Gly2428Arg)
c.6646G>C (p.Gly2216Arg)
c.3436G>C (p.Gly1146Arg)
5g.177295070G=CA1603537408NSD1c.6829G= (p.Gly2277=)
c.2344G= (p.Gly782=)
n.7285G=
n.2118G=
c.7393G= (p.Gly2465=)
n.7099G=
c.7702G= (p.Gly2568=)
c.6895G= (p.Gly2299=)
c.3196G= (p.Gly1066=)
c.7282G= (p.Gly2428=)
c.6646G= (p.Gly2216=)
c.3436G= (p.Gly1146=)
5g.177295070G>TCA362334182NSD1c.6829G>T (p.Gly2277Trp)
c.2344G>T (p.Gly782Trp)
n.7285G>T
n.2118G>T
c.7393G>T (p.Gly2465Trp)
n.7099G>T
c.7702G>T (p.Gly2568Trp)
c.6895G>T (p.Gly2299Trp)
c.3196G>T (p.Gly1066Trp)
c.7282G>T (p.Gly2428Trp)
c.6646G>T (p.Gly2216Trp)
c.3436G>T (p.Gly1146Trp)
 gnomAD v4
5g.177295071G>ACA362334184NSD1c.6830G>A (p.Gly2277Glu)
c.2345G>A (p.Gly782Glu)
n.7286G>A
n.2119G>A
c.7394G>A (p.Gly2465Glu)
n.7100G>A
c.7703G>A (p.Gly2568Glu)
c.6896G>A (p.Gly2299Glu)
c.3197G>A (p.Gly1066Glu)
c.7283G>A (p.Gly2428Glu)
c.6647G>A (p.Gly2216Glu)
c.3437G>A (p.Gly1146Glu)
5g.177295071G>CCA362334185NSD1c.6830G>C (p.Gly2277Ala)
c.2345G>C (p.Gly782Ala)
n.7286G>C
n.2119G>C
c.7394G>C (p.Gly2465Ala)
n.7100G>C
c.7703G>C (p.Gly2568Ala)
c.6896G>C (p.Gly2299Ala)
c.3197G>C (p.Gly1066Ala)
c.7283G>C (p.Gly2428Ala)
c.6647G>C (p.Gly2216Ala)
c.3437G>C (p.Gly1146Ala)
 gnomAD v4
5g.177295071G>TCA362334187NSD1c.6830G>T (p.Gly2277Val)
c.2345G>T (p.Gly782Val)
n.7286G>T
n.2119G>T
c.7394G>T (p.Gly2465Val)
n.7100G>T
c.7703G>T (p.Gly2568Val)
c.6896G>T (p.Gly2299Val)
c.3197G>T (p.Gly1066Val)
c.7283G>T (p.Gly2428Val)
c.6647G>T (p.Gly2216Val)
c.3437G>T (p.Gly1146Val)
5g.177295072G>ACA447962221NSD1c.6831G>A (p.Gly2277=)
c.2346G>A (p.Gly782=)
n.7287G>A
n.2120G>A
c.7395G>A (p.Gly2465=)
n.7101G>A
c.7704G>A (p.Gly2568=)
c.6897G>A (p.Gly2299=)
c.3198G>A (p.Gly1066=)
c.7284G>A (p.Gly2428=)
c.6648G>A (p.Gly2216=)
c.3438G>A (p.Gly1146=)
5g.177295072G>CCA447962222NSD1c.6831G>C (p.Gly2277=)
c.2346G>C (p.Gly782=)
n.7287G>C
n.2120G>C
c.7395G>C (p.Gly2465=)
n.7101G>C
c.7704G>C (p.Gly2568=)
c.6897G>C (p.Gly2299=)
c.3198G>C (p.Gly1066=)
c.7284G>C (p.Gly2428=)
c.6648G>C (p.Gly2216=)
c.3438G>C (p.Gly1146=)
 dbSNP
5g.177295072G>TCA447962223NSD1c.6831G>T (p.Gly2277=)
c.2346G>T (p.Gly782=)
n.7287G>T
n.2120G>T
c.7395G>T (p.Gly2465=)
n.7101G>T
c.7704G>T (p.Gly2568=)
c.6897G>T (p.Gly2299=)
c.3198G>T (p.Gly1066=)
c.7284G>T (p.Gly2428=)
c.6648G>T (p.Gly2216=)
c.3438G>T (p.Gly1146=)
5g.177295073C>ACA362334191NSD1c.6832C>A (p.Pro2278Thr)
c.2347C>A (p.Pro783Thr)
n.7288C>A
n.2121C>A
c.7396C>A (p.Pro2466Thr)
n.7102C>A
c.7705C>A (p.Pro2569Thr)
c.6898C>A (p.Pro2300Thr)
c.3199C>A (p.Pro1067Thr)
c.7285C>A (p.Pro2429Thr)
c.6649C>A (p.Pro2217Thr)
c.3439C>A (p.Pro1147Thr)
 gnomAD v4
5g.177295073C>GCA362334196NSD1c.6832C>G (p.Pro2278Ala)
c.2347C>G (p.Pro783Ala)
n.7288C>G
n.2121C>G
c.7396C>G (p.Pro2466Ala)
n.7102C>G
c.7705C>G (p.Pro2569Ala)
c.6898C>G (p.Pro2300Ala)
c.3199C>G (p.Pro1067Ala)
c.7285C>G (p.Pro2429Ala)
c.6649C>G (p.Pro2217Ala)
c.3439C>G (p.Pro1147Ala)
5g.177295073C>TCA362334198NSD1c.6832C>T (p.Pro2278Ser)
c.2347C>T (p.Pro783Ser)
n.7288C>T
n.2121C>T
c.7396C>T (p.Pro2466Ser)
n.7102C>T
c.7705C>T (p.Pro2569Ser)
c.6898C>T (p.Pro2300Ser)
c.3199C>T (p.Pro1067Ser)
c.7285C>T (p.Pro2429Ser)
c.6649C>T (p.Pro2217Ser)
c.3439C>T (p.Pro1147Ser)
5g.177295074C>ACA362334203NSD1c.6833C>A (p.Pro2278His)
c.2348C>A (p.Pro783His)
n.7289C>A
n.2122C>A
c.7397C>A (p.Pro2466His)
n.7103C>A
c.7706C>A (p.Pro2569His)
c.6899C>A (p.Pro2300His)
c.3200C>A (p.Pro1067His)
c.7286C>A (p.Pro2429His)
c.6650C>A (p.Pro2217His)
c.3440C>A (p.Pro1147His)
5g.177295074C>GCA362334199NSD1c.6833C>G (p.Pro2278Arg)
c.2348C>G (p.Pro783Arg)
n.7289C>G
n.2122C>G
c.7397C>G (p.Pro2466Arg)
n.7103C>G
c.7706C>G (p.Pro2569Arg)
c.6899C>G (p.Pro2300Arg)
c.3200C>G (p.Pro1067Arg)
c.7286C>G (p.Pro2429Arg)
c.6650C>G (p.Pro2217Arg)
c.3440C>G (p.Pro1147Arg)
 ClinVar
5g.177295074C>TCA362334201NSD1c.6833C>T (p.Pro2278Leu)
c.2348C>T (p.Pro783Leu)
n.7289C>T
n.2122C>T
c.7397C>T (p.Pro2466Leu)
n.7103C>T
c.7706C>T (p.Pro2569Leu)
c.6899C>T (p.Pro2300Leu)
c.3200C>T (p.Pro1067Leu)
c.7286C>T (p.Pro2429Leu)
c.6650C>T (p.Pro2217Leu)
c.3440C>T (p.Pro1147Leu)
 gnomAD v4
5g.177295075T>ACA447962225NSD1c.6834T>A (p.Pro2278=)
c.2349T>A (p.Pro783=)
n.7290T>A
n.2123T>A
c.7398T>A (p.Pro2466=)
n.7104T>A
c.7707T>A (p.Pro2569=)
c.6900T>A (p.Pro2300=)
c.3201T>A (p.Pro1067=)
c.7287T>A (p.Pro2429=)
c.6651T>A (p.Pro2217=)
c.3441T>A (p.Pro1147=)
5g.177295075T>CCA447962228NSD1c.6834T>C (p.Pro2278=)
c.2349T>C (p.Pro783=)
n.7290T>C
n.2123T>C
c.7398T>C (p.Pro2466=)
n.7104T>C
c.7707T>C (p.Pro2569=)
c.6900T>C (p.Pro2300=)
c.3201T>C (p.Pro1067=)
c.7287T>C (p.Pro2429=)
c.6651T>C (p.Pro2217=)
c.3441T>C (p.Pro1147=)
 dbSNP
5g.177295075T>GCA447962229NSD1c.6834T>G (p.Pro2278=)
c.2349T>G (p.Pro783=)
n.7290T>G
n.2123T>G
c.7398T>G (p.Pro2466=)
n.7104T>G
c.7707T>G (p.Pro2569=)
c.6900T>G (p.Pro2300=)
c.3201T>G (p.Pro1067=)
c.7287T>G (p.Pro2429=)
c.6651T>G (p.Pro2217=)
c.3441T>G (p.Pro1147=)
5g.177295076C>ACA362334206NSD1c.6835C>A (p.Leu2279Ile)
c.2350C>A (p.Leu784Ile)
n.7291C>A
n.2124C>A
c.7399C>A (p.Leu2467Ile)
n.7105C>A
c.7708C>A (p.Leu2570Ile)
c.6901C>A (p.Leu2301Ile)
c.3202C>A (p.Leu1068Ile)
c.7288C>A (p.Leu2430Ile)
c.6652C>A (p.Leu2218Ile)
c.3442C>A (p.Leu1148Ile)
5g.177295076C=CA1603537411NSD1c.6835C= (p.Leu2279=)
c.2350C= (p.Leu784=)
n.7291C=
n.2124C=
c.7399C= (p.Leu2467=)
n.7105C=
c.7708C= (p.Leu2570=)
c.6901C= (p.Leu2301=)
c.3202C= (p.Leu1068=)
c.7288C= (p.Leu2430=)
c.6652C= (p.Leu2218=)
c.3442C= (p.Leu1148=)
5g.177295076C>GCA362334208NSD1c.6835C>G (p.Leu2279Val)
c.2350C>G (p.Leu784Val)
n.7291C>G
n.2124C>G
c.7399C>G (p.Leu2467Val)
n.7105C>G
c.7708C>G (p.Leu2570Val)
c.6901C>G (p.Leu2301Val)
c.3202C>G (p.Leu1068Val)
c.7288C>G (p.Leu2430Val)
c.6652C>G (p.Leu2218Val)
c.3442C>G (p.Leu1148Val)
 dbSNP gnomAD v4
5g.177295076C>TCA362334210NSD1c.6835C>T (p.Leu2279Phe)
c.2350C>T (p.Leu784Phe)
n.7291C>T
n.2124C>T
c.7399C>T (p.Leu2467Phe)
n.7105C>T
c.7708C>T (p.Leu2570Phe)
c.6901C>T (p.Leu2301Phe)
c.3202C>T (p.Leu1068Phe)
c.7288C>T (p.Leu2430Phe)
c.6652C>T (p.Leu2218Phe)
c.3442C>T (p.Leu1148Phe)
5g.177295077T>ACA362334212NSD1c.6836T>A (p.Leu2279His)
c.2351T>A (p.Leu784His)
n.7292T>A
n.2125T>A
c.7400T>A (p.Leu2467His)
n.7106T>A
c.7709T>A (p.Leu2570His)
c.6902T>A (p.Leu2301His)
c.3203T>A (p.Leu1068His)
c.7289T>A (p.Leu2430His)
c.6653T>A (p.Leu2218His)
c.3443T>A (p.Leu1148His)
5g.177295077T>CCA362334214NSD1c.6836T>C (p.Leu2279Pro)
c.2351T>C (p.Leu784Pro)
n.7292T>C
n.2125T>C
c.7400T>C (p.Leu2467Pro)
n.7106T>C
c.7709T>C (p.Leu2570Pro)
c.6902T>C (p.Leu2301Pro)
c.3203T>C (p.Leu1068Pro)
c.7289T>C (p.Leu2430Pro)
c.6653T>C (p.Leu2218Pro)
c.3443T>C (p.Leu1148Pro)
5g.177295077T>GCA362334216NSD1c.6836T>G (p.Leu2279Arg)
c.2351T>G (p.Leu784Arg)
n.7292T>G
n.2125T>G
c.7400T>G (p.Leu2467Arg)
n.7106T>G
c.7709T>G (p.Leu2570Arg)
c.6902T>G (p.Leu2301Arg)
c.3203T>G (p.Leu1068Arg)
c.7289T>G (p.Leu2430Arg)
c.6653T>G (p.Leu2218Arg)
c.3443T>G (p.Leu1148Arg)
5g.177295077_177295078insGCA2676692121NSD1c.6836_6837insG (p.Ser2280Ter)
c.2351_2352insG (p.Ser785Ter)
n.7292_7293insG
n.2125_2126insG
c.7400_7401insG (p.Ser2468Ter)
n.7106_7107insG
c.7709_7710insG (p.Ser2571Ter)
c.6902_6903insG (p.Ser2302Ter)
c.3203_3204insG (p.Ser1069Ter)
c.7289_7290insG (p.Ser2431Ter)
c.6653_6654insG (p.Ser2219Ter)
c.3443_3444insG (p.Ser1149Ter)
 gnomAD v4
5g.177295078T>ACA447962231NSD1c.6837T>A (p.Leu2279=)
c.2352T>A (p.Leu784=)
n.7293T>A
n.2126T>A
c.7401T>A (p.Leu2467=)
n.7107T>A
c.7710T>A (p.Leu2570=)
c.6903T>A (p.Leu2301=)
c.3204T>A (p.Leu1068=)
c.7290T>A (p.Leu2430=)
c.6654T>A (p.Leu2218=)
c.3444T>A (p.Leu1148=)
 dbSNP gnomAD v3 gnomAD v4
5g.177295078T>CCA447962232NSD1c.6837T>C (p.Leu2279=)
c.2352T>C (p.Leu784=)
n.7293T>C
n.2126T>C
c.7401T>C (p.Leu2467=)
n.7107T>C
c.7710T>C (p.Leu2570=)
c.6903T>C (p.Leu2301=)
c.3204T>C (p.Leu1068=)
c.7290T>C (p.Leu2430=)
c.6654T>C (p.Leu2218=)
c.3444T>C (p.Leu1148=)
5g.177295078T>GCA447962233NSD1c.6837T>G (p.Leu2279=)
c.2352T>G (p.Leu784=)
n.7293T>G
n.2126T>G
c.7401T>G (p.Leu2467=)
n.7107T>G
c.7710T>G (p.Leu2570=)
c.6903T>G (p.Leu2301=)
c.3204T>G (p.Leu1068=)
c.7290T>G (p.Leu2430=)
c.6654T>G (p.Leu2218=)
c.3444T>G (p.Leu1148=)
5g.177295078T=CA1603537417NSD1c.6837T= (p.Leu2279=)
c.2352T= (p.Leu784=)
n.7293T=
n.2126T=
c.7401T= (p.Leu2467=)
n.7107T=
c.7710T= (p.Leu2570=)
c.6903T= (p.Leu2301=)
c.3204T= (p.Leu1068=)
c.7290T= (p.Leu2430=)
c.6654T= (p.Leu2218=)
c.3444T= (p.Leu1148=)
5g.177295079A>CCA362334217NSD1c.6838A>C (p.Ser2280Arg)
c.2353A>C (p.Ser785Arg)
n.7294A>C
n.2127A>C
c.7402A>C (p.Ser2468Arg)
n.7108A>C
c.7711A>C (p.Ser2571Arg)
c.6904A>C (p.Ser2302Arg)
c.3205A>C (p.Ser1069Arg)
c.7291A>C (p.Ser2431Arg)
c.6655A>C (p.Ser2219Arg)
c.3445A>C (p.Ser1149Arg)
5g.177295079A>GCA362334219NSD1c.6838A>G (p.Ser2280Gly)
c.2353A>G (p.Ser785Gly)
n.7294A>G
n.2127A>G
c.7402A>G (p.Ser2468Gly)
n.7108A>G
c.7711A>G (p.Ser2571Gly)
c.6904A>G (p.Ser2302Gly)
c.3205A>G (p.Ser1069Gly)
c.7291A>G (p.Ser2431Gly)
c.6655A>G (p.Ser2219Gly)
c.3445A>G (p.Ser1149Gly)
5g.177295079A>TCA362334221NSD1c.6838A>T (p.Ser2280Cys)
c.2353A>T (p.Ser785Cys)
n.7294A>T
n.2127A>T
c.7402A>T (p.Ser2468Cys)
n.7108A>T
c.7711A>T (p.Ser2571Cys)
c.6904A>T (p.Ser2302Cys)
c.3205A>T (p.Ser1069Cys)
c.7291A>T (p.Ser2431Cys)
c.6655A>T (p.Ser2219Cys)
c.3445A>T (p.Ser1149Cys)
5g.177295080G>ACA3578164NSD1c.6839G>A (p.Ser2280Asn)
c.2354G>A (p.Ser785Asn)
n.7295G>A
n.2128G>A
c.7403G>A (p.Ser2468Asn)
n.7109G>A
c.7712G>A (p.Ser2571Asn)
c.6905G>A (p.Ser2302Asn)
c.3206G>A (p.Ser1069Asn)
c.7292G>A (p.Ser2431Asn)
c.6656G>A (p.Ser2219Asn)
c.3446G>A (p.Ser1149Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177295080G>CCA362334225NSD1c.6839G>C (p.Ser2280Thr)
c.2354G>C (p.Ser785Thr)
n.7295G>C
n.2128G>C
c.7403G>C (p.Ser2468Thr)
n.7109G>C
c.7712G>C (p.Ser2571Thr)
c.6905G>C (p.Ser2302Thr)
c.3206G>C (p.Ser1069Thr)
c.7292G>C (p.Ser2431Thr)
c.6656G>C (p.Ser2219Thr)
c.3446G>C (p.Ser1149Thr)
5g.177295080G=CA1603537418NSD1c.6839G= (p.Ser2280=)
c.2354G= (p.Ser785=)
n.7295G=
n.2128G=
c.7403G= (p.Ser2468=)
n.7109G=
c.7712G= (p.Ser2571=)
c.6905G= (p.Ser2302=)
c.3206G= (p.Ser1069=)
c.7292G= (p.Ser2431=)
c.6656G= (p.Ser2219=)
c.3446G= (p.Ser1149=)
5g.177295080G>TCA362334227NSD1c.6839G>T (p.Ser2280Ile)
c.2354G>T (p.Ser785Ile)
n.7295G>T
n.2128G>T
c.7403G>T (p.Ser2468Ile)
n.7109G>T
c.7712G>T (p.Ser2571Ile)
c.6905G>T (p.Ser2302Ile)
c.3206G>T (p.Ser1069Ile)
c.7292G>T (p.Ser2431Ile)
c.6656G>T (p.Ser2219Ile)
c.3446G>T (p.Ser1149Ile)
5g.177295080_177295086delCA2578495152NSD1c.6839_6845del (p.Ser2280ThrfsTer5)
c.2354_2360del (p.Ser785ThrfsTer5)
n.7295_7301del
n.2128_2134del
c.7403_7409del (p.Ser2468ThrfsTer5)
n.7109_7115del
c.7712_7718del (p.Ser2571ThrfsTer5)
c.6905_6911del (p.Ser2302ThrfsTer5)
c.3206_3212del (p.Ser1069ThrfsTer5)
c.7292_7298del (p.Ser2431ThrfsTer5)
c.6656_6662del (p.Ser2219ThrfsTer5)
c.3446_3452del (p.Ser1149ThrfsTer5)
5g.177295081C>ACA362334230NSD1c.6840C>A (p.Ser2280Arg)
c.2355C>A (p.Ser785Arg)
n.7296C>A
n.2129C>A
c.7404C>A (p.Ser2468Arg)
n.7110C>A
c.7713C>A (p.Ser2571Arg)
c.6906C>A (p.Ser2302Arg)
c.3207C>A (p.Ser1069Arg)
c.7293C>A (p.Ser2431Arg)
c.6657C>A (p.Ser2219Arg)
c.3447C>A (p.Ser1149Arg)
 dbSNP
5g.177295081C=CA1603537422NSD1c.6840C= (p.Ser2280=)
c.2355C= (p.Ser785=)
n.7296C=
n.2129C=
c.7404C= (p.Ser2468=)
n.7110C=
c.7713C= (p.Ser2571=)
c.6906C= (p.Ser2302=)
c.3207C= (p.Ser1069=)
c.7293C= (p.Ser2431=)
c.6657C= (p.Ser2219=)
c.3447C= (p.Ser1149=)
5g.177295081C>GCA362334232NSD1c.6840C>G (p.Ser2280Arg)
c.2355C>G (p.Ser785Arg)
n.7296C>G
n.2129C>G
c.7404C>G (p.Ser2468Arg)
n.7110C>G
c.7713C>G (p.Ser2571Arg)
c.6906C>G (p.Ser2302Arg)
c.3207C>G (p.Ser1069Arg)
c.7293C>G (p.Ser2431Arg)
c.6657C>G (p.Ser2219Arg)
c.3447C>G (p.Ser1149Arg)
 dbSNP
5g.177295081C>TCA3578165NSD1c.6840C>T (p.Ser2280=)
c.2355C>T (p.Ser785=)
n.7296C>T
n.2129C>T
c.7404C>T (p.Ser2468=)
n.7110C>T
c.7713C>T (p.Ser2571=)
c.6906C>T (p.Ser2302=)
c.3207C>T (p.Ser1069=)
c.7293C>T (p.Ser2431=)
c.6657C>T (p.Ser2219=)
c.3447C>T (p.Ser1149=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177295082C>ACA362334238NSD1c.6841C>A (p.Gln2281Lys)
c.2356C>A (p.Gln786Lys)
n.7297C>A
n.2130C>A
c.7405C>A (p.Gln2469Lys)
n.7111C>A
c.7714C>A (p.Gln2572Lys)
c.6907C>A (p.Gln2303Lys)
c.3208C>A (p.Gln1070Lys)
c.7294C>A (p.Gln2432Lys)
c.6658C>A (p.Gln2220Lys)
c.3448C>A (p.Gln1150Lys)
 dbSNP gnomAD v4
5g.177295082C>GCA362334236NSD1c.6841C>G (p.Gln2281Glu)
c.2356C>G (p.Gln786Glu)
n.7297C>G
n.2130C>G
c.7405C>G (p.Gln2469Glu)
n.7111C>G
c.7714C>G (p.Gln2572Glu)
c.6907C>G (p.Gln2303Glu)
c.3208C>G (p.Gln1070Glu)
c.7294C>G (p.Gln2432Glu)
c.6658C>G (p.Gln2220Glu)
c.3448C>G (p.Gln1150Glu)
5g.177295082C>TCA362334239NSD1c.6841C>T (p.Gln2281Ter)
c.2356C>T (p.Gln786Ter)
n.7297C>T
n.2130C>T
c.7405C>T (p.Gln2469Ter)
n.7111C>T
c.7714C>T (p.Gln2572Ter)
c.6907C>T (p.Gln2303Ter)
c.3208C>T (p.Gln1070Ter)
c.7294C>T (p.Gln2432Ter)
c.6658C>T (p.Gln2220Ter)
c.3448C>T (p.Gln1150Ter)
5g.177295083A>CCA362334240NSD1c.6842A>C (p.Gln2281Pro)
c.2357A>C (p.Gln786Pro)
n.7298A>C
n.2131A>C
c.7406A>C (p.Gln2469Pro)
n.7112A>C
c.7715A>C (p.Gln2572Pro)
c.6908A>C (p.Gln2303Pro)
c.3209A>C (p.Gln1070Pro)
c.7295A>C (p.Gln2432Pro)
c.6659A>C (p.Gln2220Pro)
c.3449A>C (p.Gln1150Pro)
5g.177295083A>GCA362334242NSD1c.6842A>G (p.Gln2281Arg)
c.2357A>G (p.Gln786Arg)
n.7298A>G
n.2131A>G
c.7406A>G (p.Gln2469Arg)
n.7112A>G
c.7715A>G (p.Gln2572Arg)
c.6908A>G (p.Gln2303Arg)
c.3209A>G (p.Gln1070Arg)
c.7295A>G (p.Gln2432Arg)
c.6659A>G (p.Gln2220Arg)
c.3449A>G (p.Gln1150Arg)
5g.177295083A>TCA362334241NSD1c.6842A>T (p.Gln2281Leu)
c.2357A>T (p.Gln786Leu)
n.7298A>T
n.2131A>T
c.7406A>T (p.Gln2469Leu)
n.7112A>T
c.7715A>T (p.Gln2572Leu)
c.6908A>T (p.Gln2303Leu)
c.3209A>T (p.Gln1070Leu)
c.7295A>T (p.Gln2432Leu)
c.6659A>T (p.Gln2220Leu)
c.3449A>T (p.Gln1150Leu)
 gnomAD v4
5g.177295084A>CCA362334243NSD1c.6843A>C (p.Gln2281His)
c.2358A>C (p.Gln786His)
n.7299A>C
n.2132A>C
c.7407A>C (p.Gln2469His)
n.7113A>C
c.7716A>C (p.Gln2572His)
c.6909A>C (p.Gln2303His)
c.3210A>C (p.Gln1070His)
c.7296A>C (p.Gln2432His)
c.6660A>C (p.Gln2220His)
c.3450A>C (p.Gln1150His)
5g.177295084A>GCA447962242NSD1c.6843A>G (p.Gln2281=)
c.2358A>G (p.Gln786=)
n.7299A>G
n.2132A>G
c.7407A>G (p.Gln2469=)
n.7113A>G
c.7716A>G (p.Gln2572=)
c.6909A>G (p.Gln2303=)
c.3210A>G (p.Gln1070=)
c.7296A>G (p.Gln2432=)
c.6660A>G (p.Gln2220=)
c.3450A>G (p.Gln1150=)
5g.177295084A>TCA362334244NSD1c.6843A>T (p.Gln2281His)
c.2358A>T (p.Gln786His)
n.7299A>T
n.2132A>T
c.7407A>T (p.Gln2469His)
n.7113A>T
c.7716A>T (p.Gln2572His)
c.6909A>T (p.Gln2303His)
c.3210A>T (p.Gln1070His)
c.7296A>T (p.Gln2432His)
c.6660A>T (p.Gln2220His)
c.3450A>T (p.Gln1150His)
 dbSNP
5g.177295085T>ACA362334246NSD1c.6844T>A (p.Ser2282Thr)
c.2359T>A (p.Ser787Thr)
n.7300T>A
n.2133T>A
c.7408T>A (p.Ser2470Thr)
n.7114T>A
c.7717T>A (p.Ser2573Thr)
c.6910T>A (p.Ser2304Thr)
c.3211T>A (p.Ser1071Thr)
c.7297T>A (p.Ser2433Thr)
c.6661T>A (p.Ser2221Thr)
c.3451T>A (p.Ser1151Thr)
5g.177295085T>CCA362334248NSD1c.6844T>C (p.Ser2282Pro)
c.2359T>C (p.Ser787Pro)
n.7300T>C
n.2133T>C
c.7408T>C (p.Ser2470Pro)
n.7114T>C
c.7717T>C (p.Ser2573Pro)
c.6910T>C (p.Ser2304Pro)
c.3211T>C (p.Ser1071Pro)
c.7297T>C (p.Ser2433Pro)
c.6661T>C (p.Ser2221Pro)
c.3451T>C (p.Ser1151Pro)
5g.177295085T>GCA362334250NSD1c.6844T>G (p.Ser2282Ala)
c.2359T>G (p.Ser787Ala)
n.7300T>G
n.2133T>G
c.7408T>G (p.Ser2470Ala)
n.7114T>G
c.7717T>G (p.Ser2573Ala)
c.6910T>G (p.Ser2304Ala)
c.3211T>G (p.Ser1071Ala)
c.7297T>G (p.Ser2433Ala)
c.6661T>G (p.Ser2221Ala)
c.3451T>G (p.Ser1151Ala)
5g.177295086C>ACA362334252NSD1c.6845C>A (p.Ser2282Tyr)
c.2360C>A (p.Ser787Tyr)
n.7301C>A
n.2134C>A
c.7409C>A (p.Ser2470Tyr)
n.7115C>A
c.7718C>A (p.Ser2573Tyr)
c.6911C>A (p.Ser2304Tyr)
c.3212C>A (p.Ser1071Tyr)
c.7298C>A (p.Ser2433Tyr)
c.6662C>A (p.Ser2221Tyr)
c.3452C>A (p.Ser1151Tyr)
 dbSNP
5g.177295086C=CA1603537425NSD1c.6845C= (p.Ser2282=)
c.2360C= (p.Ser787=)
n.7301C=
n.2134C=
c.7409C= (p.Ser2470=)
n.7115C=
c.7718C= (p.Ser2573=)
c.6911C= (p.Ser2304=)
c.3212C= (p.Ser1071=)
c.7298C= (p.Ser2433=)
c.6662C= (p.Ser2221=)
c.3452C= (p.Ser1151=)
5g.177295086C>GCA362334254NSD1c.6845C>G (p.Ser2282Cys)
c.2360C>G (p.Ser787Cys)
n.7301C>G
n.2134C>G
c.7409C>G (p.Ser2470Cys)
n.7115C>G
c.7718C>G (p.Ser2573Cys)
c.6911C>G (p.Ser2304Cys)
c.3212C>G (p.Ser1071Cys)
c.7298C>G (p.Ser2433Cys)
c.6662C>G (p.Ser2221Cys)
c.3452C>G (p.Ser1151Cys)
5g.177295086C>TCA362334256NSD1c.6845C>T (p.Ser2282Phe)
c.2360C>T (p.Ser787Phe)
n.7301C>T
n.2134C>T
c.7409C>T (p.Ser2470Phe)
n.7115C>T
c.7718C>T (p.Ser2573Phe)
c.6911C>T (p.Ser2304Phe)
c.3212C>T (p.Ser1071Phe)
c.7298C>T (p.Ser2433Phe)
c.6662C>T (p.Ser2221Phe)
c.3452C>T (p.Ser1151Phe)
 dbSNP gnomAD v4
5g.177295089delCA2711016606NSD1c.6848del (p.Pro2283ArgfsTer4)
c.2363del (p.Pro788ArgfsTer4)
n.7304del
n.2137del
c.7412del (p.Pro2471ArgfsTer4)
n.7118del
c.7721del (p.Pro2574ArgfsTer4)
c.6914del (p.Pro2305ArgfsTer4)
c.3215del (p.Pro1072ArgfsTer4)
c.7301del (p.Pro2434ArgfsTer4)
c.6665del (p.Pro2222ArgfsTer4)
c.3455del (p.Pro1152ArgfsTer4)
 dbSNP
5g.177295087C>ACA3578166NSD1c.6846C>A (p.Ser2282=)
c.2361C>A (p.Ser787=)
n.7302C>A
n.2135C>A
c.7410C>A (p.Ser2470=)
n.7116C>A
c.7719C>A (p.Ser2573=)
c.6912C>A (p.Ser2304=)
c.3213C>A (p.Ser1071=)
c.7299C>A (p.Ser2433=)
c.6663C>A (p.Ser2221=)
c.3453C>A (p.Ser1151=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177295087C=CA1603537429NSD1c.6846C= (p.Ser2282=)
c.2361C= (p.Ser787=)
n.7302C=
n.2135C=
c.7410C= (p.Ser2470=)
n.7116C=
c.7719C= (p.Ser2573=)
c.6912C= (p.Ser2304=)
c.3213C= (p.Ser1071=)
c.7299C= (p.Ser2433=)
c.6663C= (p.Ser2221=)
c.3453C= (p.Ser1151=)
5g.177295087C>GCA447962251NSD1c.6846C>G (p.Ser2282=)
c.2361C>G (p.Ser787=)
n.7302C>G
n.2135C>G
c.7410C>G (p.Ser2470=)
n.7116C>G
c.7719C>G (p.Ser2573=)
c.6912C>G (p.Ser2304=)
c.3213C>G (p.Ser1071=)
c.7299C>G (p.Ser2433=)
c.6663C>G (p.Ser2221=)
c.3453C>G (p.Ser1151=)
5g.177295087C>TCA447962253NSD1c.6846C>T (p.Ser2282=)
c.2361C>T (p.Ser787=)
n.7302C>T
n.2135C>T
c.7410C>T (p.Ser2470=)
n.7116C>T
c.7719C>T (p.Ser2573=)
c.6912C>T (p.Ser2304=)
c.3213C>T (p.Ser1071=)
c.7299C>T (p.Ser2433=)
c.6663C>T (p.Ser2221=)
c.3453C>T (p.Ser1151=)
 gnomAD v4
5g.177295088C>ACA362334261NSD1c.6847C>A (p.Pro2283Thr)
c.2362C>A (p.Pro788Thr)
n.7303C>A
n.2136C>A
c.7411C>A (p.Pro2471Thr)
n.7117C>A
c.7720C>A (p.Pro2574Thr)
c.6913C>A (p.Pro2305Thr)
c.3214C>A (p.Pro1072Thr)
c.7300C>A (p.Pro2434Thr)
c.6664C>A (p.Pro2222Thr)
c.3454C>A (p.Pro1152Thr)
 dbSNP
5g.177295088C>GCA362334262NSD1c.6847C>G (p.Pro2283Ala)
c.2362C>G (p.Pro788Ala)
n.7303C>G
n.2136C>G
c.7411C>G (p.Pro2471Ala)
n.7117C>G
c.7720C>G (p.Pro2574Ala)
c.6913C>G (p.Pro2305Ala)
c.3214C>G (p.Pro1072Ala)
c.7300C>G (p.Pro2434Ala)
c.6664C>G (p.Pro2222Ala)
c.3454C>G (p.Pro1152Ala)
 gnomAD v4
5g.177295088C>TCA362334263NSD1c.6847C>T (p.Pro2283Ser)
c.2362C>T (p.Pro788Ser)
n.7303C>T
n.2136C>T
c.7411C>T (p.Pro2471Ser)
n.7117C>T
c.7720C>T (p.Pro2574Ser)
c.6913C>T (p.Pro2305Ser)
c.3214C>T (p.Pro1072Ser)
c.7300C>T (p.Pro2434Ser)
c.6664C>T (p.Pro2222Ser)
c.3454C>T (p.Pro1152Ser)
5g.177295089C>ACA362334266NSD1c.6848C>A (p.Pro2283Gln)
c.2363C>A (p.Pro788Gln)
n.7304C>A
n.2137C>A
c.7412C>A (p.Pro2471Gln)
n.7118C>A
c.7721C>A (p.Pro2574Gln)
c.6914C>A (p.Pro2305Gln)
c.3215C>A (p.Pro1072Gln)
c.7301C>A (p.Pro2434Gln)
c.6665C>A (p.Pro2222Gln)
c.3455C>A (p.Pro1152Gln)
5g.177295089C=CA1603537431NSD1c.6848C= (p.Pro2283=)
c.2363C= (p.Pro788=)
n.7304C=
n.2137C=
c.7412C= (p.Pro2471=)
n.7118C=
c.7721C= (p.Pro2574=)
c.6914C= (p.Pro2305=)
c.3215C= (p.Pro1072=)
c.7301C= (p.Pro2434=)
c.6665C= (p.Pro2222=)
c.3455C= (p.Pro1152=)
5g.177295089C>GCA362334269NSD1c.6848C>G (p.Pro2283Arg)
c.2363C>G (p.Pro788Arg)
n.7304C>G
n.2137C>G
c.7412C>G (p.Pro2471Arg)
n.7118C>G
c.7721C>G (p.Pro2574Arg)
c.6914C>G (p.Pro2305Arg)
c.3215C>G (p.Pro1072Arg)
c.7301C>G (p.Pro2434Arg)
c.6665C>G (p.Pro2222Arg)
c.3455C>G (p.Pro1152Arg)
 dbSNP
5g.177295089C>TCA3578167NSD1c.6848C>T (p.Pro2283Leu)
c.2363C>T (p.Pro788Leu)
n.7304C>T
n.2137C>T
c.7412C>T (p.Pro2471Leu)
n.7118C>T
c.7721C>T (p.Pro2574Leu)
c.6914C>T (p.Pro2305Leu)
c.3215C>T (p.Pro1072Leu)
c.7301C>T (p.Pro2434Leu)
c.6665C>T (p.Pro2222Leu)
c.3455C>T (p.Pro1152Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177295090G>ACA3578168NSD1c.6849G>A (p.Pro2283=)
c.2364G>A (p.Pro788=)
n.7305G>A
n.2138G>A
c.7413G>A (p.Pro2471=)
n.7119G>A
c.7722G>A (p.Pro2574=)
c.6915G>A (p.Pro2305=)
c.3216G>A (p.Pro1072=)
c.7302G>A (p.Pro2434=)
c.6666G>A (p.Pro2222=)
c.3456G>A (p.Pro1152=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177295090G>CCA447962264NSD1c.6849G>C (p.Pro2283=)
c.2364G>C (p.Pro788=)
n.7305G>C
n.2138G>C
c.7413G>C (p.Pro2471=)
n.7119G>C
c.7722G>C (p.Pro2574=)
c.6915G>C (p.Pro2305=)
c.3216G>C (p.Pro1072=)
c.7302G>C (p.Pro2434=)
c.6666G>C (p.Pro2222=)
c.3456G>C (p.Pro1152=)
 dbSNP
5g.177295090G=CA1603537437NSD1c.6849G= (p.Pro2283=)
c.2364G= (p.Pro788=)
n.7305G=
n.2138G=
c.7413G= (p.Pro2471=)
n.7119G=
c.7722G= (p.Pro2574=)
c.6915G= (p.Pro2305=)
c.3216G= (p.Pro1072=)
c.7302G= (p.Pro2434=)
c.6666G= (p.Pro2222=)
c.3456G= (p.Pro1152=)
5g.177295090G>TCA447962263NSD1c.6849G>T (p.Pro2283=)
c.2364G>T (p.Pro788=)
n.7305G>T
n.2138G>T
c.7413G>T (p.Pro2471=)
n.7119G>T
c.7722G>T (p.Pro2574=)
c.6915G>T (p.Pro2305=)
c.3216G>T (p.Pro1072=)
c.7302G>T (p.Pro2434=)
c.6666G>T (p.Pro2222=)
c.3456G>T (p.Pro1152=)
5g.177295091G>ACA362334273NSD1c.6850G>A (p.Gly2284Ser)
c.2365G>A (p.Gly789Ser)
n.7306G>A
n.2139G>A
c.7414G>A (p.Gly2472Ser)
n.7120G>A
c.7723G>A (p.Gly2575Ser)
c.6916G>A (p.Gly2306Ser)
c.3217G>A (p.Gly1073Ser)
c.7303G>A (p.Gly2435Ser)
c.6667G>A (p.Gly2223Ser)
c.3457G>A (p.Gly1153Ser)
5g.177295091G>CCA132863343NSD1c.6850G>C (p.Gly2284Arg)
c.2365G>C (p.Gly789Arg)
n.7306G>C
n.2139G>C
c.7414G>C (p.Gly2472Arg)
n.7120G>C
c.7723G>C (p.Gly2575Arg)
c.6916G>C (p.Gly2306Arg)
c.3217G>C (p.Gly1073Arg)
c.7303G>C (p.Gly2435Arg)
c.6667G>C (p.Gly2223Arg)
c.3457G>C (p.Gly1153Arg)
 dbSNP gnomAD v2 gnomAD v4
5g.177295091G=CA1603537440NSD1c.6850G= (p.Gly2284=)
c.2365G= (p.Gly789=)
n.7306G=
n.2139G=
c.7414G= (p.Gly2472=)
n.7120G=
c.7723G= (p.Gly2575=)
c.6916G= (p.Gly2306=)
c.3217G= (p.Gly1073=)
c.7303G= (p.Gly2435=)
c.6667G= (p.Gly2223=)
c.3457G= (p.Gly1153=)
5g.177295091G>TCA362334276NSD1c.6850G>T (p.Gly2284Cys)
c.2365G>T (p.Gly789Cys)
n.7306G>T
n.2139G>T
c.7414G>T (p.Gly2472Cys)
n.7120G>T
c.7723G>T (p.Gly2575Cys)
c.6916G>T (p.Gly2306Cys)
c.3217G>T (p.Gly1073Cys)
c.7303G>T (p.Gly2435Cys)
c.6667G>T (p.Gly2223Cys)
c.3457G>T (p.Gly1153Cys)
5g.177295092G>ACA362334279NSD1c.6851G>A (p.Gly2284Asp)
c.2366G>A (p.Gly789Asp)
n.7307G>A
n.2140G>A
c.7415G>A (p.Gly2472Asp)
n.7121G>A
c.7724G>A (p.Gly2575Asp)
c.6917G>A (p.Gly2306Asp)
c.3218G>A (p.Gly1073Asp)
c.7304G>A (p.Gly2435Asp)
c.6668G>A (p.Gly2223Asp)
c.3458G>A (p.Gly1153Asp)
5g.177295092G>CCA362334281NSD1c.6851G>C (p.Gly2284Ala)
c.2366G>C (p.Gly789Ala)
n.7307G>C
n.2140G>C
c.7415G>C (p.Gly2472Ala)
n.7121G>C
c.7724G>C (p.Gly2575Ala)
c.6917G>C (p.Gly2306Ala)
c.3218G>C (p.Gly1073Ala)
c.7304G>C (p.Gly2435Ala)
c.6668G>C (p.Gly2223Ala)
c.3458G>C (p.Gly1153Ala)
5g.177295092G>TCA362334283NSD1c.6851G>T (p.Gly2284Val)
c.2366G>T (p.Gly789Val)
n.7307G>T
n.2140G>T
c.7415G>T (p.Gly2472Val)
n.7121G>T
c.7724G>T (p.Gly2575Val)
c.6917G>T (p.Gly2306Val)
c.3218G>T (p.Gly1073Val)
c.7304G>T (p.Gly2435Val)
c.6668G>T (p.Gly2223Val)
c.3458G>T (p.Gly1153Val)
5g.177295093C>ACA447962273NSD1c.6852C>A (p.Gly2284=)
c.2367C>A (p.Gly789=)
n.7308C>A
n.2141C>A
c.7416C>A (p.Gly2472=)
n.7122C>A
c.7725C>A (p.Gly2575=)
c.6918C>A (p.Gly2306=)
c.3219C>A (p.Gly1073=)
c.7305C>A (p.Gly2435=)
c.6669C>A (p.Gly2223=)
c.3459C>A (p.Gly1153=)
5g.177295093C>GCA447962270NSD1c.6852C>G (p.Gly2284=)
c.2367C>G (p.Gly789=)
n.7308C>G
n.2141C>G
c.7416C>G (p.Gly2472=)
n.7122C>G
c.7725C>G (p.Gly2575=)
c.6918C>G (p.Gly2306=)
c.3219C>G (p.Gly1073=)
c.7305C>G (p.Gly2435=)
c.6669C>G (p.Gly2223=)
c.3459C>G (p.Gly1153=)
5g.177295093C>TCA447962268NSD1c.6852C>T (p.Gly2284=)
c.2367C>T (p.Gly789=)
n.7308C>T
n.2141C>T
c.7416C>T (p.Gly2472=)
n.7122C>T
c.7725C>T (p.Gly2575=)
c.6918C>T (p.Gly2306=)
c.3219C>T (p.Gly1073=)
c.7305C>T (p.Gly2435=)
c.6669C>T (p.Gly2223=)
c.3459C>T (p.Gly1153=)
 dbSNP
5g.177295094delCA2676692122NSD1c.6853del (p.Leu2285TrpfsTer2)
c.2368del (p.Leu790TrpfsTer2)
n.7309del
n.2142del
c.7417del (p.Leu2473TrpfsTer2)
n.7123del
c.7726del (p.Leu2576TrpfsTer2)
c.6919del (p.Leu2307TrpfsTer2)
c.3220del (p.Leu1074TrpfsTer2)
c.7306del (p.Leu2436TrpfsTer2)
c.6670del (p.Leu2224TrpfsTer2)
c.3460del (p.Leu1154TrpfsTer2)
 gnomAD v4
5g.177295094C>ACA362334285NSD1c.6853C>A (p.Leu2285Met)
c.2368C>A (p.Leu790Met)
n.7309C>A
n.2142C>A
c.7417C>A (p.Leu2473Met)
n.7123C>A
c.7726C>A (p.Leu2576Met)
c.6919C>A (p.Leu2307Met)
c.3220C>A (p.Leu1074Met)
c.7306C>A (p.Leu2436Met)
c.6670C>A (p.Leu2224Met)
c.3460C>A (p.Leu1154Met)
5g.177295094C>GCA362334287NSD1c.6853C>G (p.Leu2285Val)
c.2368C>G (p.Leu790Val)
n.7309C>G
n.2142C>G
c.7417C>G (p.Leu2473Val)
n.7123C>G
c.7726C>G (p.Leu2576Val)
c.6919C>G (p.Leu2307Val)
c.3220C>G (p.Leu1074Val)
c.7306C>G (p.Leu2436Val)
c.6670C>G (p.Leu2224Val)
c.3460C>G (p.Leu1154Val)
 gnomAD v4
5g.177295094C>TCA447962276NSD1c.6853C>T (p.Leu2285=)
c.2368C>T (p.Leu790=)
n.7309C>T
n.2142C>T
c.7417C>T (p.Leu2473=)
n.7123C>T
c.7726C>T (p.Leu2576=)
c.6919C>T (p.Leu2307=)
c.3220C>T (p.Leu1074=)
c.7306C>T (p.Leu2436=)
c.6670C>T (p.Leu2224=)
c.3460C>T (p.Leu1154=)
5g.177295095T>ACA362334291NSD1c.6854T>A (p.Leu2285Gln)
c.2369T>A (p.Leu790Gln)
n.7310T>A
n.2143T>A
c.7418T>A (p.Leu2473Gln)
n.7124T>A
c.7727T>A (p.Leu2576Gln)
c.6920T>A (p.Leu2307Gln)
c.3221T>A (p.Leu1074Gln)
c.7307T>A (p.Leu2436Gln)
c.6671T>A (p.Leu2224Gln)
c.3461T>A (p.Leu1154Gln)
5g.177295095T>CCA362334293NSD1c.6854T>C (p.Leu2285Pro)
c.2369T>C (p.Leu790Pro)
n.7310T>C
n.2143T>C
c.7418T>C (p.Leu2473Pro)
n.7124T>C
c.7727T>C (p.Leu2576Pro)
c.6920T>C (p.Leu2307Pro)
c.3221T>C (p.Leu1074Pro)
c.7307T>C (p.Leu2436Pro)
c.6671T>C (p.Leu2224Pro)
c.3461T>C (p.Leu1154Pro)
5g.177295095T>GCA362334289NSD1c.6854T>G (p.Leu2285Arg)
c.2369T>G (p.Leu790Arg)
n.7310T>G
n.2143T>G
c.7418T>G (p.Leu2473Arg)
n.7124T>G
c.7727T>G (p.Leu2576Arg)
c.6920T>G (p.Leu2307Arg)
c.3221T>G (p.Leu1074Arg)
c.7307T>G (p.Leu2436Arg)
c.6671T>G (p.Leu2224Arg)
c.3461T>G (p.Leu1154Arg)
5g.177295095T=CA1603537447NSD1c.6854T= (p.Leu2285=)
c.2369T= (p.Leu790=)
n.7310T=
n.2143T=
c.7418T= (p.Leu2473=)
n.7124T=
c.7727T= (p.Leu2576=)
c.6920T= (p.Leu2307=)
c.3221T= (p.Leu1074=)
c.7307T= (p.Leu2436=)
c.6671T= (p.Leu2224=)
c.3461T= (p.Leu1154=)
5g.177295096G>ACA447962283NSD1c.6855G>A (p.Leu2285=)
c.2370G>A (p.Leu790=)
n.7311G>A
n.2144G>A
c.7419G>A (p.Leu2473=)
n.7125G>A
c.7728G>A (p.Leu2576=)
c.6921G>A (p.Leu2307=)
c.3222G>A (p.Leu1074=)
c.7308G>A (p.Leu2436=)
c.6672G>A (p.Leu2224=)
c.3462G>A (p.Leu1154=)
 dbSNP
5g.177295096G>CCA447962285NSD1c.6855G>C (p.Leu2285=)
c.2370G>C (p.Leu790=)
n.7311G>C
n.2144G>C
c.7419G>C (p.Leu2473=)
n.7125G>C
c.7728G>C (p.Leu2576=)
c.6921G>C (p.Leu2307=)
c.3222G>C (p.Leu1074=)
c.7308G>C (p.Leu2436=)
c.6672G>C (p.Leu2224=)
c.3462G>C (p.Leu1154=)
5g.177295096G>TCA447962284NSD1c.6855G>T (p.Leu2285=)
c.2370G>T (p.Leu790=)
n.7311G>T
n.2144G>T
c.7419G>T (p.Leu2473=)
n.7125G>T
c.7728G>T (p.Leu2576=)
c.6921G>T (p.Leu2307=)
c.3222G>T (p.Leu1074=)
c.7308G>T (p.Leu2436=)
c.6672G>T (p.Leu2224=)
c.3462G>T (p.Leu1154=)
5g.177295098_177295106dupCA808063587NSD1c.6857_6865dup (p.Gln2288_Ala2289insValLysGln)
c.2372_2380dup (p.Gln793_Ala794insValLysGln)
n.7313_7321dup
n.2146_2154dup
c.7421_7429dup (p.Gln2476_Ala2477insValLysGln)
n.7127_7135dup
c.7730_7738dup (p.Gln2579_Ala2580insValLysGln)
c.6923_6931dup (p.Gln2310_Ala2311insValLysGln)
c.3224_3232dup (p.Gln1077_Ala1078insValLysGln)
c.7310_7318dup (p.Gln2439_Ala2440insValLysGln)
c.6674_6682dup (p.Gln2227_Ala2228insValLysGln)
c.3464_3472dup (p.Gln1157_Ala1158insValLysGln)
 dbSNP gnomAD v3 gnomAD v4
5g.177295097G>ACA362334294NSD1c.6856G>A (p.Val2286Met)
c.2371G>A (p.Val791Met)
n.7312G>A
n.2145G>A
c.7420G>A (p.Val2474Met)
n.7126G>A
c.7729G>A (p.Val2577Met)
c.6922G>A (p.Val2308Met)
c.3223G>A (p.Val1075Met)
c.7309G>A (p.Val2437Met)
c.6673G>A (p.Val2225Met)
c.3463G>A (p.Val1155Met)
 dbSNP gnomAD v4
5g.177295097G>CCA362334295NSD1c.6856G>C (p.Val2286Leu)
c.2371G>C (p.Val791Leu)
n.7312G>C
n.2145G>C
c.7420G>C (p.Val2474Leu)
n.7126G>C
c.7729G>C (p.Val2577Leu)
c.6922G>C (p.Val2308Leu)
c.3223G>C (p.Val1075Leu)
c.7309G>C (p.Val2437Leu)
c.6673G>C (p.Val2225Leu)
c.3463G>C (p.Val1155Leu)
 dbSNP
5g.177295097G=CA1603537455NSD1c.6856G= (p.Val2286=)
c.2371G= (p.Val791=)
n.7312G=
n.2145G=
c.7420G= (p.Val2474=)
n.7126G=
c.7729G= (p.Val2577=)
c.6922G= (p.Val2308=)
c.3223G= (p.Val1075=)
c.7309G= (p.Val2437=)
c.6673G= (p.Val2225=)
c.3463G= (p.Val1155=)
5g.177295097G>TCA362334296NSD1c.6856G>T (p.Val2286Leu)
c.2371G>T (p.Val791Leu)
n.7312G>T
n.2145G>T
c.7420G>T (p.Val2474Leu)
n.7126G>T
c.7729G>T (p.Val2577Leu)
c.6922G>T (p.Val2308Leu)
c.3223G>T (p.Val1075Leu)
c.7309G>T (p.Val2437Leu)
c.6673G>T (p.Val2225Leu)
c.3463G>T (p.Val1155Leu)
5g.177295098T>ACA362334299NSD1c.6857T>A (p.Val2286Glu)
c.2372T>A (p.Val791Glu)
n.7313T>A
n.2146T>A
c.7421T>A (p.Val2474Glu)
n.7127T>A
c.7730T>A (p.Val2577Glu)
c.6923T>A (p.Val2308Glu)
c.3224T>A (p.Val1075Glu)
c.7310T>A (p.Val2437Glu)
c.6674T>A (p.Val2225Glu)
c.3464T>A (p.Val1155Glu)
5g.177295098T>CCA362334300NSD1c.6857T>C (p.Val2286Ala)
c.2372T>C (p.Val791Ala)
n.7313T>C
n.2146T>C
c.7421T>C (p.Val2474Ala)
n.7127T>C
c.7730T>C (p.Val2577Ala)
c.6923T>C (p.Val2308Ala)
c.3224T>C (p.Val1075Ala)
c.7310T>C (p.Val2437Ala)
c.6674T>C (p.Val2225Ala)
c.3464T>C (p.Val1155Ala)
 gnomAD v4
5g.177295098T>GCA362334306NSD1c.6857T>G (p.Val2286Gly)
c.2372T>G (p.Val791Gly)
n.7313T>G
n.2146T>G
c.7421T>G (p.Val2474Gly)
n.7127T>G
c.7730T>G (p.Val2577Gly)
c.6923T>G (p.Val2308Gly)
c.3224T>G (p.Val1075Gly)
c.7310T>G (p.Val2437Gly)
c.6674T>G (p.Val2225Gly)
c.3464T>G (p.Val1155Gly)
5g.177295099G>ACA447962291NSD1c.6858G>A (p.Val2286=)
c.2373G>A (p.Val791=)
n.7314G>A
n.2147G>A
c.7422G>A (p.Val2474=)
n.7128G>A
c.7731G>A (p.Val2577=)
c.6924G>A (p.Val2308=)
c.3225G>A (p.Val1075=)
c.7311G>A (p.Val2437=)
c.6675G>A (p.Val2225=)
c.3465G>A (p.Val1155=)
 dbSNP gnomAD v4
5g.177295099G>CCA447962292NSD1c.6858G>C (p.Val2286=)
c.2373G>C (p.Val791=)
n.7314G>C
n.2147G>C
c.7422G>C (p.Val2474=)
n.7128G>C
c.7731G>C (p.Val2577=)
c.6924G>C (p.Val2308=)
c.3225G>C (p.Val1075=)
c.7311G>C (p.Val2437=)
c.6675G>C (p.Val2225=)
c.3465G>C (p.Val1155=)
5g.177295099G=CA1603537458NSD1c.6858G= (p.Val2286=)
c.2373G= (p.Val791=)
n.7314G=
n.2147G=
c.7422G= (p.Val2474=)
n.7128G=
c.7731G= (p.Val2577=)
c.6924G= (p.Val2308=)
c.3225G= (p.Val1075=)
c.7311G= (p.Val2437=)
c.6675G= (p.Val2225=)
c.3465G= (p.Val1155=)
5g.177295099G>TCA447962293NSD1c.6858G>T (p.Val2286=)
c.2373G>T (p.Val791=)
n.7314G>T
n.2147G>T
c.7422G>T (p.Val2474=)
n.7128G>T
c.7731G>T (p.Val2577=)
c.6924G>T (p.Val2308=)
c.3225G>T (p.Val1075=)
c.7311G>T (p.Val2437=)
c.6675G>T (p.Val2225=)
c.3465G>T (p.Val1155=)
5g.177295106_177295114dupCA2676692123NSD1c.6865_6873dup (p.Gln2291_Met2292insAlaLysGln)
c.2380_2388dup (p.Gln796_Met797insAlaLysGln)
n.7321_7329dup
n.2154_2162dup
c.7429_7437dup (p.Gln2479_Met2480insAlaLysGln)
n.7135_7143dup
c.7738_7746dup (p.Gln2582_Met2583insAlaLysGln)
c.6931_6939dup (p.Gln2313_Met2314insAlaLysGln)
c.3232_3240dup (p.Gln1080_Met1081insAlaLysGln)
c.7318_7326dup (p.Gln2442_Met2443insAlaLysGln)
c.6682_6690dup (p.Gln2230_Met2231insAlaLysGln)
c.3472_3480dup (p.Gln1160_Met1161insAlaLysGln)
 gnomAD v4
5g.177295100A>CCA362334313NSD1c.6859A>C (p.Lys2287Gln)
c.2374A>C (p.Lys792Gln)
n.7315A>C
n.2148A>C
c.7423A>C (p.Lys2475Gln)
n.7129A>C
c.7732A>C (p.Lys2578Gln)
c.6925A>C (p.Lys2309Gln)
c.3226A>C (p.Lys1076Gln)
c.7312A>C (p.Lys2438Gln)
c.6676A>C (p.Lys2226Gln)
c.3466A>C (p.Lys1156Gln)
5g.177295100A>GCA362334309NSD1c.6859A>G (p.Lys2287Glu)
c.2374A>G (p.Lys792Glu)
n.7315A>G
n.2148A>G
c.7423A>G (p.Lys2475Glu)
n.7129A>G
c.7732A>G (p.Lys2578Glu)
c.6925A>G (p.Lys2309Glu)
c.3226A>G (p.Lys1076Glu)
c.7312A>G (p.Lys2438Glu)
c.6676A>G (p.Lys2226Glu)
c.3466A>G (p.Lys1156Glu)
5g.177295100A>TCA362334311NSD1c.6859A>T (p.Lys2287Ter)
c.2374A>T (p.Lys792Ter)
n.7315A>T
n.2148A>T
c.7423A>T (p.Lys2475Ter)
n.7129A>T
c.7732A>T (p.Lys2578Ter)
c.6925A>T (p.Lys2309Ter)
c.3226A>T (p.Lys1076Ter)
c.7312A>T (p.Lys2438Ter)
c.6676A>T (p.Lys2226Ter)
c.3466A>T (p.Lys1156Ter)
5g.177295101A>CCA362334315NSD1c.6860A>C (p.Lys2287Thr)
c.2375A>C (p.Lys792Thr)
n.7316A>C
n.2149A>C
c.7424A>C (p.Lys2475Thr)
n.7130A>C
c.7733A>C (p.Lys2578Thr)
c.6926A>C (p.Lys2309Thr)
c.3227A>C (p.Lys1076Thr)
c.7313A>C (p.Lys2438Thr)
c.6677A>C (p.Lys2226Thr)
c.3467A>C (p.Lys1156Thr)
5g.177295101A>GCA362334317NSD1c.6860A>G (p.Lys2287Arg)
c.2375A>G (p.Lys792Arg)
n.7316A>G
n.2149A>G
c.7424A>G (p.Lys2475Arg)
n.7130A>G
c.7733A>G (p.Lys2578Arg)
c.6926A>G (p.Lys2309Arg)
c.3227A>G (p.Lys1076Arg)
c.7313A>G (p.Lys2438Arg)
c.6677A>G (p.Lys2226Arg)
c.3467A>G (p.Lys1156Arg)
5g.177295101A>TCA362334319NSD1c.6860A>T (p.Lys2287Met)
c.2375A>T (p.Lys792Met)
n.7316A>T
n.2149A>T
c.7424A>T (p.Lys2475Met)
n.7130A>T
c.7733A>T (p.Lys2578Met)
c.6926A>T (p.Lys2309Met)
c.3227A>T (p.Lys1076Met)
c.7313A>T (p.Lys2438Met)
c.6677A>T (p.Lys2226Met)
c.3467A>T (p.Lys1156Met)
5g.177295102G>ACA447962297NSD1c.6861G>A (p.Lys2287=)
c.2376G>A (p.Lys792=)
n.7317G>A
n.2150G>A
c.7425G>A (p.Lys2475=)
n.7131G>A
c.7734G>A (p.Lys2578=)
c.6927G>A (p.Lys2309=)
c.3228G>A (p.Lys1076=)
c.7314G>A (p.Lys2438=)
c.6678G>A (p.Lys2226=)
c.3468G>A (p.Lys1156=)
5g.177295102G>CCA362334322NSD1c.6861G>C (p.Lys2287Asn)
c.2376G>C (p.Lys792Asn)
n.7317G>C
n.2150G>C
c.7425G>C (p.Lys2475Asn)
n.7131G>C
c.7734G>C (p.Lys2578Asn)
c.6927G>C (p.Lys2309Asn)
c.3228G>C (p.Lys1076Asn)
c.7314G>C (p.Lys2438Asn)
c.6678G>C (p.Lys2226Asn)
c.3468G>C (p.Lys1156Asn)
5g.177295102G>TCA362334323NSD1c.6861G>T (p.Lys2287Asn)
c.2376G>T (p.Lys792Asn)
n.7317G>T
n.2150G>T
c.7425G>T (p.Lys2475Asn)
n.7131G>T
c.7734G>T (p.Lys2578Asn)
c.6927G>T (p.Lys2309Asn)
c.3228G>T (p.Lys1076Asn)
c.7314G>T (p.Lys2438Asn)
c.6678G>T (p.Lys2226Asn)
c.3468G>T (p.Lys1156Asn)
5g.177295102_177295103delCA2676692124NSD1c.6861_6862del (p.Gln2288GlyfsTer22)
c.2376_2377del (p.Gln793GlyfsTer22)
n.7317_7318del
n.2150_2151del
c.7425_7426del (p.Gln2476GlyfsTer22)
n.7131_7132del
c.7734_7735del (p.Gln2579GlyfsTer22)
c.6927_6928del (p.Gln2310GlyfsTer22)
c.3228_3229del (p.Gln1077GlyfsTer22)
c.7314_7315del (p.Gln2439GlyfsTer22)
c.6678_6679del (p.Gln2227GlyfsTer22)
c.3468_3469del (p.Gln1157GlyfsTer22)
 gnomAD v4
5g.177295103C>ACA362334327NSD1c.6862C>A (p.Gln2288Lys)
c.2377C>A (p.Gln793Lys)
n.7318C>A
n.2151C>A
c.7426C>A (p.Gln2476Lys)
n.7132C>A
c.7735C>A (p.Gln2579Lys)
c.6928C>A (p.Gln2310Lys)
c.3229C>A (p.Gln1077Lys)
c.7315C>A (p.Gln2439Lys)
c.6679C>A (p.Gln2227Lys)
c.3469C>A (p.Gln1157Lys)
5g.177295103C=CA1603537462NSD1c.6862C= (p.Gln2288=)
c.2377C= (p.Gln793=)
n.7318C=
n.2151C=
c.7426C= (p.Gln2476=)
n.7132C=
c.7735C= (p.Gln2579=)
c.6928C= (p.Gln2310=)
c.3229C= (p.Gln1077=)
c.7315C= (p.Gln2439=)
c.6679C= (p.Gln2227=)
c.3469C= (p.Gln1157=)
5g.177295103C>GCA3578169NSD1c.6862C>G (p.Gln2288Glu)
c.2377C>G (p.Gln793Glu)
n.7318C>G
n.2151C>G
c.7426C>G (p.Gln2476Glu)
n.7132C>G
c.7735C>G (p.Gln2579Glu)
c.6928C>G (p.Gln2310Glu)
c.3229C>G (p.Gln1077Glu)
c.7315C>G (p.Gln2439Glu)
c.6679C>G (p.Gln2227Glu)
c.3469C>G (p.Gln1157Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177295103C>TCA362334329NSD1c.6862C>T (p.Gln2288Ter)
c.2377C>T (p.Gln793Ter)
n.7318C>T
n.2151C>T
c.7426C>T (p.Gln2476Ter)
n.7132C>T
c.7735C>T (p.Gln2579Ter)
c.6928C>T (p.Gln2310Ter)
c.3229C>T (p.Gln1077Ter)
c.7315C>T (p.Gln2439Ter)
c.6679C>T (p.Gln2227Ter)
c.3469C>T (p.Gln1157Ter)
 dbSNP
5g.177295104A=CA1603537471NSD1c.6863A= (p.Gln2288=)
c.2378A= (p.Gln793=)
n.7319A=
n.2152A=
c.7427A= (p.Gln2476=)
n.7133A=
c.7736A= (p.Gln2579=)
c.6929A= (p.Gln2310=)
c.3230A= (p.Gln1077=)
c.7316A= (p.Gln2439=)
c.6680A= (p.Gln2227=)
c.3470A= (p.Gln1157=)
5g.177295104A>CCA362334333NSD1c.6863A>C (p.Gln2288Pro)
c.2378A>C (p.Gln793Pro)
n.7319A>C
n.2152A>C
c.7427A>C (p.Gln2476Pro)
n.7133A>C
c.7736A>C (p.Gln2579Pro)
c.6929A>C (p.Gln2310Pro)
c.3230A>C (p.Gln1077Pro)
c.7316A>C (p.Gln2439Pro)
c.6680A>C (p.Gln2227Pro)
c.3470A>C (p.Gln1157Pro)
 gnomAD v4
5g.177295104A>GCA3578170NSD1c.6863A>G (p.Gln2288Arg)
c.2378A>G (p.Gln793Arg)
n.7319A>G
n.2152A>G
c.7427A>G (p.Gln2476Arg)
n.7133A>G
c.7736A>G (p.Gln2579Arg)
c.6929A>G (p.Gln2310Arg)
c.3230A>G (p.Gln1077Arg)
c.7316A>G (p.Gln2439Arg)
c.6680A>G (p.Gln2227Arg)
c.3470A>G (p.Gln1157Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177295104A>TCA362334336NSD1c.6863A>T (p.Gln2288Leu)
c.2378A>T (p.Gln793Leu)
n.7319A>T
n.2152A>T
c.7427A>T (p.Gln2476Leu)
n.7133A>T
c.7736A>T (p.Gln2579Leu)
c.6929A>T (p.Gln2310Leu)
c.3230A>T (p.Gln1077Leu)
c.7316A>T (p.Gln2439Leu)
c.6680A>T (p.Gln2227Leu)
c.3470A>T (p.Gln1157Leu)

Number of alleles fetched