UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49022633C>A | CA384677598 | KMT2D | c.265G>T n.967G>T n.1929G>T n.465G>T c.16343G>T (p.Arg5448Leu) c.266G>T (p.Arg89Leu) c.830G>T (p.Arg277Leu) n.878G>T c.1449G>T c.16304G>T (p.Arg5435Leu) c.772G>T (n.772G>T) c.296G>T (p.Arg99Leu) c.16292G>T (p.Arg5431Leu) c.16295G>T (p.Arg5432Leu) c.338G>T (p.Arg113Leu) c.16352G>T (p.Arg5451Leu) c.16349G>T (p.Arg5450Leu) c.16340G>T (p.Arg5447Leu) c.16331G>T (p.Arg5444Leu) c.16286G>T (p.Arg5429Leu) c.16259G>T (p.Arg5420Leu) n.16472G>T | ClinVar dbSNP |
| 12 | g.49022633C= | CA2034963303 | KMT2D | c.265G= n.967G= n.1929G= n.465G= c.16343G= (p.Arg5448=) c.266G= (p.Arg89=) c.830G= (p.Arg277=) n.878G= c.1449G= c.16304G= (p.Arg5435=) c.772G= (n.772G=) c.296G= (p.Arg99=) c.16292G= (p.Arg5431=) c.16295G= (p.Arg5432=) c.338G= (p.Arg113=) c.16352G= (p.Arg5451=) c.16349G= (p.Arg5450=) c.16340G= (p.Arg5447=) c.16331G= (p.Arg5444=) c.16286G= (p.Arg5429=) c.16259G= (p.Arg5420=) n.16472G= | |
| 12 | g.49022633C>G | CA384677599 | KMT2D | c.265G>C n.967G>C n.1929G>C n.465G>C c.16343G>C (p.Arg5448Pro) c.266G>C (p.Arg89Pro) c.830G>C (p.Arg277Pro) n.878G>C c.1449G>C c.16304G>C (p.Arg5435Pro) c.772G>C (n.772G>C) c.296G>C (p.Arg99Pro) c.16292G>C (p.Arg5431Pro) c.16295G>C (p.Arg5432Pro) c.338G>C (p.Arg113Pro) c.16352G>C (p.Arg5451Pro) c.16349G>C (p.Arg5450Pro) c.16340G>C (p.Arg5447Pro) c.16331G>C (p.Arg5444Pro) c.16286G>C (p.Arg5429Pro) c.16259G>C (p.Arg5420Pro) n.16472G>C | dbSNP |
| 12 | g.49022633C>T | CA222044 | KMT2D | c.265G>A n.967G>A n.1929G>A n.465G>A c.16343G>A (p.Arg5448Gln) c.266G>A (p.Arg89Gln) c.830G>A (p.Arg277Gln) n.878G>A c.1449G>A c.16304G>A (p.Arg5435Gln) c.772G>A (n.772G>A) c.296G>A (p.Arg99Gln) c.16292G>A (p.Arg5431Gln) c.16295G>A (p.Arg5432Gln) c.338G>A (p.Arg113Gln) c.16352G>A (p.Arg5451Gln) c.16349G>A (p.Arg5450Gln) c.16340G>A (p.Arg5447Gln) c.16331G>A (p.Arg5444Gln) c.16286G>A (p.Arg5429Gln) c.16259G>A (p.Arg5420Gln) n.16472G>A | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.49022634G>A | CA384677611 | KMT2D | c.264C>T n.966C>T n.1928C>T n.464C>T c.16342C>T (p.Arg5448Trp) c.265C>T (p.Arg89Trp) c.829C>T (p.Arg277Trp) n.877C>T c.1448C>T c.16303C>T (p.Arg5435Trp) c.771C>T (n.771C>T) c.295C>T (p.Arg99Trp) c.16291C>T (p.Arg5431Trp) c.16294C>T (p.Arg5432Trp) c.337C>T (p.Arg113Trp) c.16351C>T (p.Arg5451Trp) c.16348C>T (p.Arg5450Trp) c.16339C>T (p.Arg5447Trp) c.16330C>T (p.Arg5444Trp) c.16285C>T (p.Arg5429Trp) c.16258C>T (p.Arg5420Trp) n.16471C>T | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.49022634G>C | CA384677614 | KMT2D | c.264C>G n.966C>G n.1928C>G n.464C>G c.16342C>G (p.Arg5448Gly) c.265C>G (p.Arg89Gly) c.829C>G (p.Arg277Gly) n.877C>G c.1448C>G c.16303C>G (p.Arg5435Gly) c.771C>G (n.771C>G) c.295C>G (p.Arg99Gly) c.16291C>G (p.Arg5431Gly) c.16294C>G (p.Arg5432Gly) c.337C>G (p.Arg113Gly) c.16351C>G (p.Arg5451Gly) c.16348C>G (p.Arg5450Gly) c.16339C>G (p.Arg5447Gly) c.16330C>G (p.Arg5444Gly) c.16285C>G (p.Arg5429Gly) c.16258C>G (p.Arg5420Gly) n.16471C>G | |
| 12 | g.49022634G= | CA2034963304 | KMT2D | c.264C= n.966C= n.1928C= n.464C= c.16342C= (p.Arg5448=) c.265C= (p.Arg89=) c.829C= (p.Arg277=) n.877C= c.1448C= c.16303C= (p.Arg5435=) c.771C= (n.771C=) c.295C= (p.Arg99=) c.16291C= (p.Arg5431=) c.16294C= (p.Arg5432=) c.337C= (p.Arg113=) c.16351C= (p.Arg5451=) c.16348C= (p.Arg5450=) c.16339C= (p.Arg5447=) c.16330C= (p.Arg5444=) c.16285C= (p.Arg5429=) c.16258C= (p.Arg5420=) n.16471C= | |
| 12 | g.49022634G>T | CA479521071 | KMT2D | c.264C>A n.966C>A n.1928C>A n.464C>A c.16342C>A (p.Arg5448=) c.265C>A (p.Arg89=) c.829C>A (p.Arg277=) n.877C>A c.1448C>A c.16303C>A (p.Arg5435=) c.771C>A (n.771C>A) c.295C>A (p.Arg99=) c.16291C>A (p.Arg5431=) c.16294C>A (p.Arg5432=) c.337C>A (p.Arg113=) c.16351C>A (p.Arg5451=) c.16348C>A (p.Arg5450=) c.16339C>A (p.Arg5447=) c.16330C>A (p.Arg5444=) c.16285C>A (p.Arg5429=) c.16258C>A (p.Arg5420=) n.16471C>A | |
| 12 | g.49022635A>C | CA384677619 | KMT2D | c.263T>G n.965T>G n.1927T>G n.463T>G c.16341T>G (p.Ile5447Met) c.264T>G (p.Ile88Met) c.828T>G (p.Ile276Met) n.876T>G c.1447T>G c.16302T>G (p.Ile5434Met) c.770T>G (n.770T>G) c.294T>G (p.Ile98Met) c.16290T>G (p.Ile5430Met) c.16293T>G (p.Ile5431Met) c.336T>G (p.Ile112Met) c.16350T>G (p.Ile5450Met) c.16347T>G (p.Ile5449Met) c.16338T>G (p.Ile5446Met) c.16329T>G (p.Ile5443Met) c.16284T>G (p.Ile5428Met) c.16257T>G (p.Ile5419Met) n.16470T>G | |
| 12 | g.49022635A>G | CA479521073 | KMT2D | c.263T>C n.965T>C n.1927T>C n.463T>C c.16341T>C (p.Ile5447=) c.264T>C (p.Ile88=) c.828T>C (p.Ile276=) n.876T>C c.1447T>C c.16302T>C (p.Ile5434=) c.770T>C (n.770T>C) c.294T>C (p.Ile98=) c.16290T>C (p.Ile5430=) c.16293T>C (p.Ile5431=) c.336T>C (p.Ile112=) c.16350T>C (p.Ile5450=) c.16347T>C (p.Ile5449=) c.16338T>C (p.Ile5446=) c.16329T>C (p.Ile5443=) c.16284T>C (p.Ile5428=) c.16257T>C (p.Ile5419=) n.16470T>C | dbSNP |
| 12 | g.49022635A>T | CA479521072 | KMT2D | c.263T>A n.965T>A n.1927T>A n.463T>A c.16341T>A (p.Ile5447=) c.264T>A (p.Ile88=) c.828T>A (p.Ile276=) n.876T>A c.1447T>A c.16302T>A (p.Ile5434=) c.770T>A (n.770T>A) c.294T>A (p.Ile98=) c.16290T>A (p.Ile5430=) c.16293T>A (p.Ile5431=) c.336T>A (p.Ile112=) c.16350T>A (p.Ile5450=) c.16347T>A (p.Ile5449=) c.16338T>A (p.Ile5446=) c.16329T>A (p.Ile5443=) c.16284T>A (p.Ile5428=) c.16257T>A (p.Ile5419=) n.16470T>A | dbSNP |
| 12 | g.49022636A>C | CA384677621 | KMT2D | c.262T>G n.964T>G n.1926T>G n.462T>G c.16340T>G (p.Ile5447Ser) c.263T>G (p.Ile88Ser) c.827T>G (p.Ile276Ser) n.875T>G c.1446T>G c.16301T>G (p.Ile5434Ser) c.769T>G (n.769T>G) c.293T>G (p.Ile98Ser) c.16289T>G (p.Ile5430Ser) c.16292T>G (p.Ile5431Ser) c.335T>G (p.Ile112Ser) c.16349T>G (p.Ile5450Ser) c.16346T>G (p.Ile5449Ser) c.16337T>G (p.Ile5446Ser) c.16328T>G (p.Ile5443Ser) c.16283T>G (p.Ile5428Ser) c.16256T>G (p.Ile5419Ser) n.16469T>G | |
| 12 | g.49022636A>G | CA384677624 | KMT2D | c.262T>C n.964T>C n.1926T>C n.462T>C c.16340T>C (p.Ile5447Thr) c.263T>C (p.Ile88Thr) c.827T>C (p.Ile276Thr) n.875T>C c.1446T>C c.16301T>C (p.Ile5434Thr) c.769T>C (n.769T>C) c.293T>C (p.Ile98Thr) c.16289T>C (p.Ile5430Thr) c.16292T>C (p.Ile5431Thr) c.335T>C (p.Ile112Thr) c.16349T>C (p.Ile5450Thr) c.16346T>C (p.Ile5449Thr) c.16337T>C (p.Ile5446Thr) c.16328T>C (p.Ile5443Thr) c.16283T>C (p.Ile5428Thr) c.16256T>C (p.Ile5419Thr) n.16469T>C | dbSNP |
| 12 | g.49022636A>T | CA384677625 | KMT2D | c.262T>A n.964T>A n.1926T>A n.462T>A c.16340T>A (p.Ile5447Asn) c.263T>A (p.Ile88Asn) c.827T>A (p.Ile276Asn) n.875T>A c.1446T>A c.16301T>A (p.Ile5434Asn) c.769T>A (n.769T>A) c.293T>A (p.Ile98Asn) c.16289T>A (p.Ile5430Asn) c.16292T>A (p.Ile5431Asn) c.335T>A (p.Ile112Asn) c.16349T>A (p.Ile5450Asn) c.16346T>A (p.Ile5449Asn) c.16337T>A (p.Ile5446Asn) c.16328T>A (p.Ile5443Asn) c.16283T>A (p.Ile5428Asn) c.16256T>A (p.Ile5419Asn) n.16469T>A | dbSNP |
| 12 | g.49022637T>A | CA384677629 | KMT2D | c.261A>T n.963A>T n.1925A>T n.461A>T c.16339A>T (p.Ile5447Phe) c.262A>T (p.Ile88Phe) c.826A>T (p.Ile276Phe) n.874A>T c.1445A>T c.16300A>T (p.Ile5434Phe) c.768A>T (n.768A>T) c.292A>T (p.Ile98Phe) c.16288A>T (p.Ile5430Phe) c.16291A>T (p.Ile5431Phe) c.334A>T (p.Ile112Phe) c.16348A>T (p.Ile5450Phe) c.16345A>T (p.Ile5449Phe) c.16336A>T (p.Ile5446Phe) c.16327A>T (p.Ile5443Phe) c.16282A>T (p.Ile5428Phe) c.16255A>T (p.Ile5419Phe) n.16468A>T | dbSNP |
| 12 | g.49022637T>C | CA384677632 | KMT2D | c.261A>G n.963A>G n.1925A>G n.461A>G c.16339A>G (p.Ile5447Val) c.262A>G (p.Ile88Val) c.826A>G (p.Ile276Val) n.874A>G c.1445A>G c.16300A>G (p.Ile5434Val) c.768A>G (n.768A>G) c.292A>G (p.Ile98Val) c.16288A>G (p.Ile5430Val) c.16291A>G (p.Ile5431Val) c.334A>G (p.Ile112Val) c.16348A>G (p.Ile5450Val) c.16345A>G (p.Ile5449Val) c.16336A>G (p.Ile5446Val) c.16327A>G (p.Ile5443Val) c.16282A>G (p.Ile5428Val) c.16255A>G (p.Ile5419Val) n.16468A>G | |
| 12 | g.49022637T>G | CA384677635 | KMT2D | c.261A>C n.963A>C n.1925A>C n.461A>C c.16339A>C (p.Ile5447Leu) c.262A>C (p.Ile88Leu) c.826A>C (p.Ile276Leu) n.874A>C c.1445A>C c.16300A>C (p.Ile5434Leu) c.768A>C (n.768A>C) c.292A>C (p.Ile98Leu) c.16288A>C (p.Ile5430Leu) c.16291A>C (p.Ile5431Leu) c.334A>C (p.Ile112Leu) c.16348A>C (p.Ile5450Leu) c.16345A>C (p.Ile5449Leu) c.16336A>C (p.Ile5446Leu) c.16327A>C (p.Ile5443Leu) c.16282A>C (p.Ile5428Leu) c.16255A>C (p.Ile5419Leu) n.16468A>C | dbSNP |
| 12 | g.49022638G>A | CA479521074 | KMT2D | c.260C>T n.962C>T n.1924C>T n.460C>T c.16338C>T (p.Ile5446=) c.261C>T (p.Ile87=) c.825C>T (p.Ile275=) n.873C>T c.1444C>T c.16299C>T (p.Ile5433=) c.767C>T (n.767C>T) c.291C>T (p.Ile97=) c.16287C>T (p.Ile5429=) c.16290C>T (p.Ile5430=) c.333C>T (p.Ile111=) c.16347C>T (p.Ile5449=) c.16344C>T (p.Ile5448=) c.16335C>T (p.Ile5445=) c.16326C>T (p.Ile5442=) c.16281C>T (p.Ile5427=) c.16254C>T (p.Ile5418=) n.16467C>T | dbSNP |
| 12 | g.49022638G>C | CA384677638 | KMT2D | c.260C>G n.962C>G n.1924C>G n.460C>G c.16338C>G (p.Ile5446Met) c.261C>G (p.Ile87Met) c.825C>G (p.Ile275Met) n.873C>G c.1444C>G c.16299C>G (p.Ile5433Met) c.767C>G (n.767C>G) c.291C>G (p.Ile97Met) c.16287C>G (p.Ile5429Met) c.16290C>G (p.Ile5430Met) c.333C>G (p.Ile111Met) c.16347C>G (p.Ile5449Met) c.16344C>G (p.Ile5448Met) c.16335C>G (p.Ile5445Met) c.16326C>G (p.Ile5442Met) c.16281C>G (p.Ile5427Met) c.16254C>G (p.Ile5418Met) n.16467C>G | dbSNP COSMIC |
| 12 | g.49022638G>T | CA479521075 | KMT2D | c.260C>A n.962C>A n.1924C>A n.460C>A c.16338C>A (p.Ile5446=) c.261C>A (p.Ile87=) c.825C>A (p.Ile275=) n.873C>A c.1444C>A c.16299C>A (p.Ile5433=) c.767C>A (n.767C>A) c.291C>A (p.Ile97=) c.16287C>A (p.Ile5429=) c.16290C>A (p.Ile5430=) c.333C>A (p.Ile111=) c.16347C>A (p.Ile5449=) c.16344C>A (p.Ile5448=) c.16335C>A (p.Ile5445=) c.16326C>A (p.Ile5442=) c.16281C>A (p.Ile5427=) c.16254C>A (p.Ile5418=) n.16467C>A | dbSNP |
| 12 | g.49022638_49022639del | CA2726327539 | KMT2D | c.259_260del n.961_962del n.1923_1924del n.459_460del c.16337_16338del (p.Ile5446AsnfsTer28) c.260_261del (p.Ile87AsnfsTer28) c.824_825del (p.Ile275AsnfsTer23) n.872_873del c.1443_1444del c.16298_16299del (p.Ile5433AsnfsTer28) c.766_767del (n.766_767del) c.290_291del (p.Ile97AsnfsTer28) c.16286_16287del (p.Ile5429AsnfsTer28) c.16289_16290del (p.Ile5430AsnfsTer28) c.332_333del (p.Ile111AsnfsTer28) c.16346_16347del (p.Ile5449AsnfsTer28) c.16343_16344del (p.Ile5448AsnfsTer28) c.16334_16335del (p.Ile5445AsnfsTer28) c.16325_16326del (p.Ile5442AsnfsTer28) c.16280_16281del (p.Ile5427AsnfsTer28) c.16253_16254del (p.Ile5418AsnfsTer28) n.16466_16467del | dbSNP |
| 12 | g.49022639A>C | CA384677650 | KMT2D | c.259T>G n.961T>G n.1923T>G n.459T>G c.16337T>G (p.Ile5446Ser) c.260T>G (p.Ile87Ser) c.824T>G (p.Ile275Ser) n.872T>G c.1443T>G c.16298T>G (p.Ile5433Ser) c.766T>G (n.766T>G) c.290T>G (p.Ile97Ser) c.16286T>G (p.Ile5429Ser) c.16289T>G (p.Ile5430Ser) c.332T>G (p.Ile111Ser) c.16346T>G (p.Ile5449Ser) c.16343T>G (p.Ile5448Ser) c.16334T>G (p.Ile5445Ser) c.16325T>G (p.Ile5442Ser) c.16280T>G (p.Ile5427Ser) c.16253T>G (p.Ile5418Ser) n.16466T>G | dbSNP |
| 12 | g.49022639A>G | CA384677644 | KMT2D | c.259T>C n.961T>C n.1923T>C n.459T>C c.16337T>C (p.Ile5446Thr) c.260T>C (p.Ile87Thr) c.824T>C (p.Ile275Thr) n.872T>C c.1443T>C c.16298T>C (p.Ile5433Thr) c.766T>C (n.766T>C) c.290T>C (p.Ile97Thr) c.16286T>C (p.Ile5429Thr) c.16289T>C (p.Ile5430Thr) c.332T>C (p.Ile111Thr) c.16346T>C (p.Ile5449Thr) c.16343T>C (p.Ile5448Thr) c.16334T>C (p.Ile5445Thr) c.16325T>C (p.Ile5442Thr) c.16280T>C (p.Ile5427Thr) c.16253T>C (p.Ile5418Thr) n.16466T>C | dbSNP |
| 12 | g.49022639A>T | CA384677640 | KMT2D | c.259T>A n.961T>A n.1923T>A n.459T>A c.16337T>A (p.Ile5446Asn) c.260T>A (p.Ile87Asn) c.824T>A (p.Ile275Asn) n.872T>A c.1443T>A c.16298T>A (p.Ile5433Asn) c.766T>A (n.766T>A) c.290T>A (p.Ile97Asn) c.16286T>A (p.Ile5429Asn) c.16289T>A (p.Ile5430Asn) c.332T>A (p.Ile111Asn) c.16346T>A (p.Ile5449Asn) c.16343T>A (p.Ile5448Asn) c.16334T>A (p.Ile5445Asn) c.16325T>A (p.Ile5442Asn) c.16280T>A (p.Ile5427Asn) c.16253T>A (p.Ile5418Asn) n.16466T>A | dbSNP |
| 12 | g.49022640T>A | CA384677654 | KMT2D | c.258A>T n.960A>T n.1922A>T n.458A>T c.16336A>T (p.Ile5446Phe) c.259A>T (p.Ile87Phe) c.823A>T (p.Ile275Phe) n.871A>T c.1442A>T c.16297A>T (p.Ile5433Phe) c.765A>T (n.765A>T) c.289A>T (p.Ile97Phe) c.16285A>T (p.Ile5429Phe) c.16288A>T (p.Ile5430Phe) c.331A>T (p.Ile111Phe) c.16345A>T (p.Ile5449Phe) c.16342A>T (p.Ile5448Phe) c.16333A>T (p.Ile5445Phe) c.16324A>T (p.Ile5442Phe) c.16279A>T (p.Ile5427Phe) c.16252A>T (p.Ile5418Phe) n.16465A>T | |
| 12 | g.49022640T>C | CA384677656 | KMT2D | c.258A>G n.960A>G n.1922A>G n.458A>G c.16336A>G (p.Ile5446Val) c.259A>G (p.Ile87Val) c.823A>G (p.Ile275Val) n.871A>G c.1442A>G c.16297A>G (p.Ile5433Val) c.765A>G (n.765A>G) c.289A>G (p.Ile97Val) c.16285A>G (p.Ile5429Val) c.16288A>G (p.Ile5430Val) c.331A>G (p.Ile111Val) c.16345A>G (p.Ile5449Val) c.16342A>G (p.Ile5448Val) c.16333A>G (p.Ile5445Val) c.16324A>G (p.Ile5442Val) c.16279A>G (p.Ile5427Val) c.16252A>G (p.Ile5418Val) n.16465A>G | gnomAD v4 |
| 12 | g.49022640T>G | CA384677658 | KMT2D | c.258A>C n.960A>C n.1922A>C n.458A>C c.16336A>C (p.Ile5446Leu) c.259A>C (p.Ile87Leu) c.823A>C (p.Ile275Leu) n.871A>C c.1442A>C c.16297A>C (p.Ile5433Leu) c.765A>C (n.765A>C) c.289A>C (p.Ile97Leu) c.16285A>C (p.Ile5429Leu) c.16288A>C (p.Ile5430Leu) c.331A>C (p.Ile111Leu) c.16345A>C (p.Ile5449Leu) c.16342A>C (p.Ile5448Leu) c.16333A>C (p.Ile5445Leu) c.16324A>C (p.Ile5442Leu) c.16279A>C (p.Ile5427Leu) c.16252A>C (p.Ile5418Leu) n.16465A>C | |
| 12 | g.49022641G>A | CA479521076 | KMT2D | c.257C>T n.959C>T n.1921C>T n.457C>T c.16335C>T (p.Thr5445=) c.258C>T (p.Thr86=) c.822C>T (p.Thr274=) n.870C>T c.1441C>T c.16296C>T (p.Thr5432=) c.764C>T (n.764C>T) c.288C>T (p.Thr96=) c.16284C>T (p.Thr5428=) c.16287C>T (p.Thr5429=) c.330C>T (p.Thr110=) c.16344C>T (p.Thr5448=) c.16341C>T (p.Thr5447=) c.16332C>T (p.Thr5444=) c.16323C>T (p.Thr5441=) c.16278C>T (p.Thr5426=) c.16251C>T (p.Thr5417=) n.16464C>T | dbSNP |
| 12 | g.49022641G>C | CA479521077 | KMT2D | c.257C>G n.959C>G n.1921C>G n.457C>G c.16335C>G (p.Thr5445=) c.258C>G (p.Thr86=) c.822C>G (p.Thr274=) n.870C>G c.1441C>G c.16296C>G (p.Thr5432=) c.764C>G (n.764C>G) c.288C>G (p.Thr96=) c.16284C>G (p.Thr5428=) c.16287C>G (p.Thr5429=) c.330C>G (p.Thr110=) c.16344C>G (p.Thr5448=) c.16341C>G (p.Thr5447=) c.16332C>G (p.Thr5444=) c.16323C>G (p.Thr5441=) c.16278C>G (p.Thr5426=) c.16251C>G (p.Thr5417=) n.16464C>G | dbSNP |
| 12 | g.49022641G>T | CA479521078 | KMT2D | c.257C>A n.959C>A n.1921C>A n.457C>A c.16335C>A (p.Thr5445=) c.258C>A (p.Thr86=) c.822C>A (p.Thr274=) n.870C>A c.1441C>A c.16296C>A (p.Thr5432=) c.764C>A (n.764C>A) c.288C>A (p.Thr96=) c.16284C>A (p.Thr5428=) c.16287C>A (p.Thr5429=) c.330C>A (p.Thr110=) c.16344C>A (p.Thr5448=) c.16341C>A (p.Thr5447=) c.16332C>A (p.Thr5444=) c.16323C>A (p.Thr5441=) c.16278C>A (p.Thr5426=) c.16251C>A (p.Thr5417=) n.16464C>A | dbSNP COSMIC COSMIC |
| 12 | g.49022642G>A | CA384677659 | KMT2D | c.256C>T n.958C>T n.1920C>T n.456C>T c.16334C>T (p.Thr5445Ile) c.257C>T (p.Thr86Ile) c.821C>T (p.Thr274Ile) n.869C>T c.1440C>T c.16295C>T (p.Thr5432Ile) c.763C>T (n.763C>T) c.287C>T (p.Thr96Ile) c.16283C>T (p.Thr5428Ile) c.16286C>T (p.Thr5429Ile) c.329C>T (p.Thr110Ile) c.16343C>T (p.Thr5448Ile) c.16340C>T (p.Thr5447Ile) c.16331C>T (p.Thr5444Ile) c.16322C>T (p.Thr5441Ile) c.16277C>T (p.Thr5426Ile) c.16250C>T (p.Thr5417Ile) n.16463C>T | dbSNP |
| 12 | g.49022642G>C | CA384677660 | KMT2D | c.256C>G n.958C>G n.1920C>G n.456C>G c.16334C>G (p.Thr5445Ser) c.257C>G (p.Thr86Ser) c.821C>G (p.Thr274Ser) n.869C>G c.1440C>G c.16295C>G (p.Thr5432Ser) c.763C>G (n.763C>G) c.287C>G (p.Thr96Ser) c.16283C>G (p.Thr5428Ser) c.16286C>G (p.Thr5429Ser) c.329C>G (p.Thr110Ser) c.16343C>G (p.Thr5448Ser) c.16340C>G (p.Thr5447Ser) c.16331C>G (p.Thr5444Ser) c.16322C>G (p.Thr5441Ser) c.16277C>G (p.Thr5426Ser) c.16250C>G (p.Thr5417Ser) n.16463C>G | dbSNP |
| 12 | g.49022642G>T | CA384677662 | KMT2D | c.256C>A n.958C>A n.1920C>A n.456C>A c.16334C>A (p.Thr5445Asn) c.257C>A (p.Thr86Asn) c.821C>A (p.Thr274Asn) n.869C>A c.1440C>A c.16295C>A (p.Thr5432Asn) c.763C>A (n.763C>A) c.287C>A (p.Thr96Asn) c.16283C>A (p.Thr5428Asn) c.16286C>A (p.Thr5429Asn) c.329C>A (p.Thr110Asn) c.16343C>A (p.Thr5448Asn) c.16340C>A (p.Thr5447Asn) c.16331C>A (p.Thr5444Asn) c.16322C>A (p.Thr5441Asn) c.16277C>A (p.Thr5426Asn) c.16250C>A (p.Thr5417Asn) n.16463C>A | dbSNP |
| 12 | g.49022643T>A | CA384677666 | KMT2D | c.255A>T n.957A>T n.1919A>T n.455A>T c.16333A>T (p.Thr5445Ser) c.256A>T (p.Thr86Ser) c.820A>T (p.Thr274Ser) n.868A>T c.1439A>T c.16294A>T (p.Thr5432Ser) c.762A>T (n.762A>T) c.286A>T (p.Thr96Ser) c.16282A>T (p.Thr5428Ser) c.16285A>T (p.Thr5429Ser) c.328A>T (p.Thr110Ser) c.16342A>T (p.Thr5448Ser) c.16339A>T (p.Thr5447Ser) c.16330A>T (p.Thr5444Ser) c.16321A>T (p.Thr5441Ser) c.16276A>T (p.Thr5426Ser) c.16249A>T (p.Thr5417Ser) n.16462A>T | dbSNP |
| 12 | g.49022643T>C | CA384677668 | KMT2D | c.255A>G n.957A>G n.1919A>G n.455A>G c.16333A>G (p.Thr5445Ala) c.256A>G (p.Thr86Ala) c.820A>G (p.Thr274Ala) n.868A>G c.1439A>G c.16294A>G (p.Thr5432Ala) c.762A>G (n.762A>G) c.286A>G (p.Thr96Ala) c.16282A>G (p.Thr5428Ala) c.16285A>G (p.Thr5429Ala) c.328A>G (p.Thr110Ala) c.16342A>G (p.Thr5448Ala) c.16339A>G (p.Thr5447Ala) c.16330A>G (p.Thr5444Ala) c.16321A>G (p.Thr5441Ala) c.16276A>G (p.Thr5426Ala) c.16249A>G (p.Thr5417Ala) n.16462A>G | dbSNP |
| 12 | g.49022643T>G | CA384677671 | KMT2D | c.255A>C n.957A>C n.1919A>C n.455A>C c.16333A>C (p.Thr5445Pro) c.256A>C (p.Thr86Pro) c.820A>C (p.Thr274Pro) n.868A>C c.1439A>C c.16294A>C (p.Thr5432Pro) c.762A>C (n.762A>C) c.286A>C (p.Thr96Pro) c.16282A>C (p.Thr5428Pro) c.16285A>C (p.Thr5429Pro) c.328A>C (p.Thr110Pro) c.16342A>C (p.Thr5448Pro) c.16339A>C (p.Thr5447Pro) c.16330A>C (p.Thr5444Pro) c.16321A>C (p.Thr5441Pro) c.16276A>C (p.Thr5426Pro) c.16249A>C (p.Thr5417Pro) n.16462A>C | dbSNP |
| 12 | g.49022644G>A | CA479521079 | KMT2D | c.254C>T n.956C>T n.1918C>T n.454C>T c.16332C>T (p.Gly5444=) c.255C>T (p.Gly85=) c.819C>T (p.Gly273=) n.867C>T c.1438C>T c.16293C>T (p.Gly5431=) c.761C>T (n.761C>T) c.285C>T (p.Gly95=) c.16281C>T (p.Gly5427=) c.16284C>T (p.Gly5428=) c.327C>T (p.Gly109=) c.16341C>T (p.Gly5447=) c.16338C>T (p.Gly5446=) c.16329C>T (p.Gly5443=) c.16320C>T (p.Gly5440=) c.16275C>T (p.Gly5425=) c.16248C>T (p.Gly5416=) n.16461C>T | |
| 12 | g.49022644G>C | CA479521080 | KMT2D | c.254C>G n.956C>G n.1918C>G n.454C>G c.16332C>G (p.Gly5444=) c.255C>G (p.Gly85=) c.819C>G (p.Gly273=) n.867C>G c.1438C>G c.16293C>G (p.Gly5431=) c.761C>G (n.761C>G) c.285C>G (p.Gly95=) c.16281C>G (p.Gly5427=) c.16284C>G (p.Gly5428=) c.327C>G (p.Gly109=) c.16341C>G (p.Gly5447=) c.16338C>G (p.Gly5446=) c.16329C>G (p.Gly5443=) c.16320C>G (p.Gly5440=) c.16275C>G (p.Gly5425=) c.16248C>G (p.Gly5416=) n.16461C>G | |
| 12 | g.49022644G= | CA2034963305 | KMT2D | c.254C= n.956C= n.1918C= n.454C= c.16332C= (p.Gly5444=) c.255C= (p.Gly85=) c.819C= (p.Gly273=) n.867C= c.1438C= c.16293C= (p.Gly5431=) c.761C= (n.761C=) c.285C= (p.Gly95=) c.16281C= (p.Gly5427=) c.16284C= (p.Gly5428=) c.327C= (p.Gly109=) c.16341C= (p.Gly5447=) c.16338C= (p.Gly5446=) c.16329C= (p.Gly5443=) c.16320C= (p.Gly5440=) c.16275C= (p.Gly5425=) c.16248C= (p.Gly5416=) n.16461C= | |
| 12 | g.49022644G>T | CA6545403 | KMT2D | c.254C>A n.956C>A n.1918C>A n.454C>A c.16332C>A (p.Gly5444=) c.255C>A (p.Gly85=) c.819C>A (p.Gly273=) n.867C>A c.1438C>A c.16293C>A (p.Gly5431=) c.761C>A (n.761C>A) c.285C>A (p.Gly95=) c.16281C>A (p.Gly5427=) c.16284C>A (p.Gly5428=) c.327C>A (p.Gly109=) c.16341C>A (p.Gly5447=) c.16338C>A (p.Gly5446=) c.16329C>A (p.Gly5443=) c.16320C>A (p.Gly5440=) c.16275C>A (p.Gly5425=) c.16248C>A (p.Gly5416=) n.16461C>A | dbSNP ExAC gnomAD v2 |
| 12 | g.49022645C>A | CA384677677 | KMT2D | c.253G>T n.955G>T n.1917G>T n.453G>T c.16331G>T (p.Gly5444Val) c.254G>T (p.Gly85Val) c.818G>T (p.Gly273Val) n.866G>T c.1437G>T c.16292G>T (p.Gly5431Val) c.760G>T (n.760G>T) c.284G>T (p.Gly95Val) c.16280G>T (p.Gly5427Val) c.16283G>T (p.Gly5428Val) c.326G>T (p.Gly109Val) c.16340G>T (p.Gly5447Val) c.16337G>T (p.Gly5446Val) c.16328G>T (p.Gly5443Val) c.16319G>T (p.Gly5440Val) c.16274G>T (p.Gly5425Val) c.16247G>T (p.Gly5416Val) n.16460G>T | dbSNP |
| 12 | g.49022645C>G | CA384677681 | KMT2D | c.253G>C n.955G>C n.1917G>C n.453G>C c.16331G>C (p.Gly5444Ala) c.254G>C (p.Gly85Ala) c.818G>C (p.Gly273Ala) n.866G>C c.1437G>C c.16292G>C (p.Gly5431Ala) c.760G>C (n.760G>C) c.284G>C (p.Gly95Ala) c.16280G>C (p.Gly5427Ala) c.16283G>C (p.Gly5428Ala) c.326G>C (p.Gly109Ala) c.16340G>C (p.Gly5447Ala) c.16337G>C (p.Gly5446Ala) c.16328G>C (p.Gly5443Ala) c.16319G>C (p.Gly5440Ala) c.16274G>C (p.Gly5425Ala) c.16247G>C (p.Gly5416Ala) n.16460G>C | dbSNP |
| 12 | g.49022645C>T | CA384677682 | KMT2D | c.253G>A n.955G>A n.1917G>A n.453G>A c.16331G>A (p.Gly5444Asp) c.254G>A (p.Gly85Asp) c.818G>A (p.Gly273Asp) n.866G>A c.1437G>A c.16292G>A (p.Gly5431Asp) c.760G>A (n.760G>A) c.284G>A (p.Gly95Asp) c.16280G>A (p.Gly5427Asp) c.16283G>A (p.Gly5428Asp) c.326G>A (p.Gly109Asp) c.16340G>A (p.Gly5447Asp) c.16337G>A (p.Gly5446Asp) c.16328G>A (p.Gly5443Asp) c.16319G>A (p.Gly5440Asp) c.16274G>A (p.Gly5425Asp) c.16247G>A (p.Gly5416Asp) n.16460G>A | dbSNP COSMIC COSMIC |
| 12 | g.49022646C>A | CA384677686 | KMT2D | c.252G>T n.954G>T n.1916G>T n.452G>T c.16330G>T (p.Gly5444Cys) c.253G>T (p.Gly85Cys) c.817G>T (p.Gly273Cys) n.865G>T c.1436G>T c.16291G>T (p.Gly5431Cys) c.759G>T (n.759G>T) c.283G>T (p.Gly95Cys) c.16279G>T (p.Gly5427Cys) c.16282G>T (p.Gly5428Cys) c.325G>T (p.Gly109Cys) c.16339G>T (p.Gly5447Cys) c.16336G>T (p.Gly5446Cys) c.16327G>T (p.Gly5443Cys) c.16318G>T (p.Gly5440Cys) c.16273G>T (p.Gly5425Cys) c.16246G>T (p.Gly5416Cys) n.16459G>T | dbSNP |
| 12 | g.49022646C>G | CA384677687 | KMT2D | c.252G>C n.954G>C n.1916G>C n.452G>C c.16330G>C (p.Gly5444Arg) c.253G>C (p.Gly85Arg) c.817G>C (p.Gly273Arg) n.865G>C c.1436G>C c.16291G>C (p.Gly5431Arg) c.759G>C (n.759G>C) c.283G>C (p.Gly95Arg) c.16279G>C (p.Gly5427Arg) c.16282G>C (p.Gly5428Arg) c.325G>C (p.Gly109Arg) c.16339G>C (p.Gly5447Arg) c.16336G>C (p.Gly5446Arg) c.16327G>C (p.Gly5443Arg) c.16318G>C (p.Gly5440Arg) c.16273G>C (p.Gly5425Arg) c.16246G>C (p.Gly5416Arg) n.16459G>C | dbSNP |
| 12 | g.49022646C>T | CA384677684 | KMT2D | c.252G>A n.954G>A n.1916G>A n.452G>A c.16330G>A (p.Gly5444Ser) c.253G>A (p.Gly85Ser) c.817G>A (p.Gly273Ser) n.865G>A c.1436G>A c.16291G>A (p.Gly5431Ser) c.759G>A (n.759G>A) c.283G>A (p.Gly95Ser) c.16279G>A (p.Gly5427Ser) c.16282G>A (p.Gly5428Ser) c.325G>A (p.Gly109Ser) c.16339G>A (p.Gly5447Ser) c.16336G>A (p.Gly5446Ser) c.16327G>A (p.Gly5443Ser) c.16318G>A (p.Gly5440Ser) c.16273G>A (p.Gly5425Ser) c.16246G>A (p.Gly5416Ser) n.16459G>A | dbSNP |
| 12 | g.49022647A>C | CA384677688 | KMT2D | c.251T>G n.953T>G n.1915T>G n.451T>G c.16329T>G (p.Ile5443Met) c.252T>G (p.Ile84Met) c.816T>G (p.Ile272Met) n.864T>G c.1435T>G c.16290T>G (p.Ile5430Met) c.758T>G (n.758T>G) c.282T>G (p.Ile94Met) c.16278T>G (p.Ile5426Met) c.16281T>G (p.Ile5427Met) c.324T>G (p.Ile108Met) c.16338T>G (p.Ile5446Met) c.16335T>G (p.Ile5445Met) c.16326T>G (p.Ile5442Met) c.16317T>G (p.Ile5439Met) c.16272T>G (p.Ile5424Met) c.16245T>G (p.Ile5415Met) n.16458T>G | COSMIC COSMIC |
| 12 | g.49022647A>G | CA479521081 | KMT2D | c.251T>C n.953T>C n.1915T>C n.451T>C c.16329T>C (p.Ile5443=) c.252T>C (p.Ile84=) c.816T>C (p.Ile272=) n.864T>C c.1435T>C c.16290T>C (p.Ile5430=) c.758T>C (n.758T>C) c.282T>C (p.Ile94=) c.16278T>C (p.Ile5426=) c.16281T>C (p.Ile5427=) c.324T>C (p.Ile108=) c.16338T>C (p.Ile5446=) c.16335T>C (p.Ile5445=) c.16326T>C (p.Ile5442=) c.16317T>C (p.Ile5439=) c.16272T>C (p.Ile5424=) c.16245T>C (p.Ile5415=) n.16458T>C | ClinVar gnomAD v4 |
| 12 | g.49022647A>T | CA479521082 | KMT2D | c.251T>A n.953T>A n.1915T>A n.451T>A c.16329T>A (p.Ile5443=) c.252T>A (p.Ile84=) c.816T>A (p.Ile272=) n.864T>A c.1435T>A c.16290T>A (p.Ile5430=) c.758T>A (n.758T>A) c.282T>A (p.Ile94=) c.16278T>A (p.Ile5426=) c.16281T>A (p.Ile5427=) c.324T>A (p.Ile108=) c.16338T>A (p.Ile5446=) c.16335T>A (p.Ile5445=) c.16326T>A (p.Ile5442=) c.16317T>A (p.Ile5439=) c.16272T>A (p.Ile5424=) c.16245T>A (p.Ile5415=) n.16458T>A | dbSNP |
| 12 | g.49022648A>C | CA384677692 | KMT2D | c.250T>G n.952T>G n.1914T>G n.450T>G c.16328T>G (p.Ile5443Ser) c.251T>G (p.Ile84Ser) c.815T>G (p.Ile272Ser) n.863T>G c.1434T>G c.16289T>G (p.Ile5430Ser) c.757T>G (n.757T>G) c.281T>G (p.Ile94Ser) c.16277T>G (p.Ile5426Ser) c.16280T>G (p.Ile5427Ser) c.323T>G (p.Ile108Ser) c.16337T>G (p.Ile5446Ser) c.16334T>G (p.Ile5445Ser) c.16325T>G (p.Ile5442Ser) c.16316T>G (p.Ile5439Ser) c.16271T>G (p.Ile5424Ser) c.16244T>G (p.Ile5415Ser) n.16457T>G | dbSNP |