Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35732616A>C | CA405425511 | KMT2B | n.373A>C c.6001A>C (p.Ser2001Arg) c.3608A>C (n.3608A>C) c.1285A>C (p.Ser429Arg) n.1220A>C c.1288A>C (p.Ser430Arg) c.5609A>C c.6067A>C (p.Ser2023Arg) c.704+287A>C (n.704+287A>C) c.3389A>C c.5791A>C (p.Ser1931Arg) c.5503A>C (p.Ser1835Arg) c.3031A>C (p.Ser1011Arg) | |
19 | g.35732616A>G | CA405425513 | KMT2B | n.373A>G c.6001A>G (p.Ser2001Gly) c.3608A>G (n.3608A>G) c.1285A>G (p.Ser429Gly) n.1220A>G c.1288A>G (p.Ser430Gly) c.5609A>G c.6067A>G (p.Ser2023Gly) c.704+287A>G (n.704+287A>G) c.3389A>G c.5791A>G (p.Ser1931Gly) c.5503A>G (p.Ser1835Gly) c.3031A>G (p.Ser1011Gly) | |
19 | g.35732616A>T | CA405425515 | KMT2B | n.373A>T c.6001A>T (p.Ser2001Cys) c.3608A>T (n.3608A>T) c.1285A>T (p.Ser429Cys) n.1220A>T c.1288A>T (p.Ser430Cys) c.5609A>T c.6067A>T (p.Ser2023Cys) c.704+287A>T (n.704+287A>T) c.3389A>T c.5791A>T (p.Ser1931Cys) c.5503A>T (p.Ser1835Cys) c.3031A>T (p.Ser1011Cys) | gnomAD v4 |
19 | g.35732617G>A | CA405425518 | KMT2B | n.374G>A c.6002G>A (p.Ser2001Asn) c.3609G>A (n.3609G>A) c.1286G>A (p.Ser429Asn) n.1221G>A c.1289G>A (p.Ser430Asn) c.5610G>A c.6068G>A (p.Ser2023Asn) c.704+288G>A (n.704+288G>A) c.3390G>A c.5792G>A (p.Ser1931Asn) c.5504G>A (p.Ser1835Asn) c.3032G>A (p.Ser1011Asn) | COSMIC |
19 | g.35732617G>C | CA405425520 | KMT2B | n.374G>C c.6002G>C (p.Ser2001Thr) c.3609G>C (n.3609G>C) c.1286G>C (p.Ser429Thr) n.1221G>C c.1289G>C (p.Ser430Thr) c.5610G>C c.6068G>C (p.Ser2023Thr) c.704+288G>C (n.704+288G>C) c.3390G>C c.5792G>C (p.Ser1931Thr) c.5504G>C (p.Ser1835Thr) c.3032G>C (p.Ser1011Thr) | |
19 | g.35732617G>T | CA405425522 | KMT2B | n.374G>T c.6002G>T (p.Ser2001Ile) c.3609G>T (n.3609G>T) c.1286G>T (p.Ser429Ile) n.1221G>T c.1289G>T (p.Ser430Ile) c.5610G>T c.6068G>T (p.Ser2023Ile) c.704+288G>T (n.704+288G>T) c.3390G>T c.5792G>T (p.Ser1931Ile) c.5504G>T (p.Ser1835Ile) c.3032G>T (p.Ser1011Ile) | |
19 | g.35732617_35732620delinsGCTC | CA2333794403 | KMT2B | n.374_377delinsGCTC c.6002_6005delinsGCTC (p.Ser2001=) c.3609_3612delinsGCTC (n.3609_3612delinsGCTC) c.1286_1289delinsGCTC (p.Ser429=) n.1221_1224delinsGCTC c.1289_1292delinsGCTC (p.Ser430=) c.5610_5613delinsGCTC c.6068_6071delinsGCTC (p.Ser2023=) c.704+288_704+291delinsGCTC (n.704+288_704+291delinsGCTC) c.3390_3393delinsGCTC c.5792_5795delinsGCTC (p.Ser1931=) c.5504_5507delinsGCTC (p.Ser1835=) c.3032_3035delinsGCTC (p.Ser1011=) | |
19 | g.35732618C>A | CA405425526 | KMT2B | n.375C>A c.6003C>A (p.Ser2001Arg) c.3610C>A (n.3610C>A) c.1287C>A (p.Ser429Arg) n.1222C>A c.1290C>A (p.Ser430Arg) c.5611C>A c.6069C>A (p.Ser2023Arg) c.704+289C>A (n.704+289C>A) c.3391C>A c.5793C>A (p.Ser1931Arg) c.5505C>A (p.Ser1835Arg) c.3033C>A (p.Ser1011Arg) | |
19 | g.35732618C>G | CA405425527 | KMT2B | n.375C>G c.6003C>G (p.Ser2001Arg) c.3610C>G (n.3610C>G) c.1287C>G (p.Ser429Arg) n.1222C>G c.1290C>G (p.Ser430Arg) c.5611C>G c.6069C>G (p.Ser2023Arg) c.704+289C>G (n.704+289C>G) c.3391C>G c.5793C>G (p.Ser1931Arg) c.5505C>G (p.Ser1835Arg) c.3033C>G (p.Ser1011Arg) | |
19 | g.35732618C>T | CA507308345 | KMT2B | n.375C>T c.6003C>T (p.Ser2001=) c.3610C>T (n.3610C>T) c.1287C>T (p.Ser429=) n.1222C>T c.1290C>T (p.Ser430=) c.5611C>T c.6069C>T (p.Ser2023=) c.704+289C>T (n.704+289C>T) c.3391C>T c.5793C>T (p.Ser1931=) c.5505C>T (p.Ser1835=) c.3033C>T (p.Ser1011=) | |
19 | g.35732619_35732621del | CA633059479 | KMT2B | n.376_378del c.6004_6006del (p.Ser2002del) c.3611_3613del (n.3611_3613del) c.1288_1290del (p.Ser430del) n.1223_1225del c.1291_1293del (p.Ser431del) c.5612_5614del c.6070_6072del (p.Ser2024del) c.704+290_704+292del (n.704+290_704+292del) c.3392_3394del c.5794_5796del (p.Ser1932del) c.5506_5508del (p.Ser1836del) c.3034_3036del (p.Ser1012del) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732619T>A | CA405425530 | KMT2B | n.376T>A c.6004T>A (p.Ser2002Thr) c.3611T>A (n.3611T>A) c.1288T>A (p.Ser430Thr) n.1223T>A c.1291T>A (p.Ser431Thr) c.5612T>A c.6070T>A (p.Ser2024Thr) c.704+290T>A (n.704+290T>A) c.3392T>A c.5794T>A (p.Ser1932Thr) c.5506T>A (p.Ser1836Thr) c.3034T>A (p.Ser1012Thr) | |
19 | g.35732619T>C | CA405425532 | KMT2B | n.376T>C c.6004T>C (p.Ser2002Pro) c.3611T>C (n.3611T>C) c.1288T>C (p.Ser430Pro) n.1223T>C c.1291T>C (p.Ser431Pro) c.5612T>C c.6070T>C (p.Ser2024Pro) c.704+290T>C (n.704+290T>C) c.3392T>C c.5794T>C (p.Ser1932Pro) c.5506T>C (p.Ser1836Pro) c.3034T>C (p.Ser1012Pro) | |
19 | g.35732619T>G | CA405425534 | KMT2B | n.376T>G c.6004T>G (p.Ser2002Ala) c.3611T>G (n.3611T>G) c.1288T>G (p.Ser430Ala) n.1223T>G c.1291T>G (p.Ser431Ala) c.5612T>G c.6070T>G (p.Ser2024Ala) c.704+290T>G (n.704+290T>G) c.3392T>G c.5794T>G (p.Ser1932Ala) c.5506T>G (p.Ser1836Ala) c.3034T>G (p.Ser1012Ala) | |
19 | g.35732620C>A | CA405425540 | KMT2B | n.377C>A c.6005C>A (p.Ser2002Tyr) c.3612C>A (n.3612C>A) c.1289C>A (p.Ser430Tyr) n.1224C>A c.1292C>A (p.Ser431Tyr) c.5613C>A c.6071C>A (p.Ser2024Tyr) c.704+291C>A (n.704+291C>A) c.3393C>A c.5795C>A (p.Ser1932Tyr) c.5507C>A (p.Ser1836Tyr) c.3035C>A (p.Ser1012Tyr) | |
19 | g.35732620C= | CA2333794404 | KMT2B | n.377C= c.6005C= (p.Ser2002=) c.3612C= (n.3612C=) c.1289C= (p.Ser430=) n.1224C= c.1292C= (p.Ser431=) c.5613C= c.6071C= (p.Ser2024=) c.704+291C= (n.704+291C=) c.3393C= c.5795C= (p.Ser1932=) c.5507C= (p.Ser1836=) c.3035C= (p.Ser1012=) | |
19 | g.35732620C>G | CA9385599 | KMT2B | n.377C>G c.6005C>G (p.Ser2002Cys) c.3612C>G (n.3612C>G) c.1289C>G (p.Ser430Cys) n.1224C>G c.1292C>G (p.Ser431Cys) c.5613C>G c.6071C>G (p.Ser2024Cys) c.704+291C>G (n.704+291C>G) c.3393C>G c.5795C>G (p.Ser1932Cys) c.5507C>G (p.Ser1836Cys) c.3035C>G (p.Ser1012Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732620C>T | CA405425538 | KMT2B | n.377C>T c.6005C>T (p.Ser2002Phe) c.3612C>T (n.3612C>T) c.1289C>T (p.Ser430Phe) n.1224C>T c.1292C>T (p.Ser431Phe) c.5613C>T c.6071C>T (p.Ser2024Phe) c.704+291C>T (n.704+291C>T) c.3393C>T c.5795C>T (p.Ser1932Phe) c.5507C>T (p.Ser1836Phe) c.3035C>T (p.Ser1012Phe) | |
19 | g.35732621C>A | CA507308347 | KMT2B | n.378C>A c.6006C>A (p.Ser2002=) c.3613C>A (n.3613C>A) c.1290C>A (p.Ser430=) n.1225C>A c.1293C>A (p.Ser431=) c.5614C>A c.6072C>A (p.Ser2024=) c.704+292C>A (n.704+292C>A) c.3394C>A c.5796C>A (p.Ser1932=) c.5508C>A (p.Ser1836=) c.3036C>A (p.Ser1012=) | |
19 | g.35732621C= | CA2333794405 | KMT2B | n.378C= c.6006C= (p.Ser2002=) c.3613C= (n.3613C=) c.1290C= (p.Ser430=) n.1225C= c.1293C= (p.Ser431=) c.5614C= c.6072C= (p.Ser2024=) c.704+292C= (n.704+292C=) c.3394C= c.5796C= (p.Ser1932=) c.5508C= (p.Ser1836=) c.3036C= (p.Ser1012=) | |
19 | g.35732621C>G | CA507308348 | KMT2B | n.378C>G c.6006C>G (p.Ser2002=) c.3613C>G (n.3613C>G) c.1290C>G (p.Ser430=) n.1225C>G c.1293C>G (p.Ser431=) c.5614C>G c.6072C>G (p.Ser2024=) c.704+292C>G (n.704+292C>G) c.3394C>G c.5796C>G (p.Ser1932=) c.5508C>G (p.Ser1836=) c.3036C>G (p.Ser1012=) | gnomAD v4 |
19 | g.35732621C>T | CA9385600 | KMT2B | n.378C>T c.6006C>T (p.Ser2002=) c.3613C>T (n.3613C>T) c.1290C>T (p.Ser430=) n.1225C>T c.1293C>T (p.Ser431=) c.5614C>T c.6072C>T (p.Ser2024=) c.704+292C>T (n.704+292C>T) c.3394C>T c.5796C>T (p.Ser1932=) c.5508C>T (p.Ser1836=) c.3036C>T (p.Ser1012=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35732622G>A | CA9385601 | KMT2B | n.379G>A c.6007G>A (p.Glu2003Lys) c.3614G>A (n.3614G>A) c.1291G>A (p.Glu431Lys) n.1226G>A c.1294G>A (p.Glu432Lys) c.5615G>A c.6073G>A (p.Glu2025Lys) c.704+293G>A (n.704+293G>A) c.3395G>A c.5797G>A (p.Glu1933Lys) c.5509G>A (p.Glu1837Lys) c.3037G>A (p.Glu1013Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732622G>C | CA405425546 | KMT2B | n.379G>C c.6007G>C (p.Glu2003Gln) c.3614G>C (n.3614G>C) c.1291G>C (p.Glu431Gln) n.1226G>C c.1294G>C (p.Glu432Gln) c.5615G>C c.6073G>C (p.Glu2025Gln) c.704+293G>C (n.704+293G>C) c.3395G>C c.5797G>C (p.Glu1933Gln) c.5509G>C (p.Glu1837Gln) c.3037G>C (p.Glu1013Gln) | |
19 | g.35732622G= | CA2333794406 | KMT2B | n.379G= c.6007G= (p.Glu2003=) c.3614G= (n.3614G=) c.1291G= (p.Glu431=) n.1226G= c.1294G= (p.Glu432=) c.5615G= c.6073G= (p.Glu2025=) c.704+293G= (n.704+293G=) c.3395G= c.5797G= (p.Glu1933=) c.5509G= (p.Glu1837=) c.3037G= (p.Glu1013=) | |
19 | g.35732622G>T | CA405425548 | KMT2B | n.379G>T c.6007G>T (p.Glu2003Ter) c.3614G>T (n.3614G>T) c.1291G>T (p.Glu431Ter) n.1226G>T c.1294G>T (p.Glu432Ter) c.5615G>T c.6073G>T (p.Glu2025Ter) c.704+293G>T (n.704+293G>T) c.3395G>T c.5797G>T (p.Glu1933Ter) c.5509G>T (p.Glu1837Ter) c.3037G>T (p.Glu1013Ter) | |
19 | g.35732628_35732630del | CA2576757208 | KMT2B | n.385_387del c.6013_6015del (p.Glu2005del) c.3620_3622del (n.3620_3622del) c.1297_1299del (p.Glu433del) n.1232_1234del c.1300_1302del (p.Glu434del) c.5621_5623del c.6079_6081del (p.Glu2027del) c.704+299_704+301del (n.704+299_704+301del) c.3401_3403del c.5803_5805del (p.Glu1935del) c.5515_5517del (p.Glu1839del) c.3043_3045del (p.Glu1015del) | |
19 | g.35732623A>C | CA405425551 | KMT2B | n.380A>C c.6008A>C (p.Glu2003Ala) c.3615A>C (n.3615A>C) c.1292A>C (p.Glu431Ala) n.1227A>C c.1295A>C (p.Glu432Ala) c.5616A>C c.6074A>C (p.Glu2025Ala) c.704+294A>C (n.704+294A>C) c.3396A>C c.5798A>C (p.Glu1933Ala) c.5510A>C (p.Glu1837Ala) c.3038A>C (p.Glu1013Ala) | |
19 | g.35732623A>G | CA405425553 | KMT2B | n.380A>G c.6008A>G (p.Glu2003Gly) c.3615A>G (n.3615A>G) c.1292A>G (p.Glu431Gly) n.1227A>G c.1295A>G (p.Glu432Gly) c.5616A>G c.6074A>G (p.Glu2025Gly) c.704+294A>G (n.704+294A>G) c.3396A>G c.5798A>G (p.Glu1933Gly) c.5510A>G (p.Glu1837Gly) c.3038A>G (p.Glu1013Gly) | |
19 | g.35732623A>T | CA405425555 | KMT2B | n.380A>T c.6008A>T (p.Glu2003Val) c.3615A>T (n.3615A>T) c.1292A>T (p.Glu431Val) n.1227A>T c.1295A>T (p.Glu432Val) c.5616A>T c.6074A>T (p.Glu2025Val) c.704+294A>T (n.704+294A>T) c.3396A>T c.5798A>T (p.Glu1933Val) c.5510A>T (p.Glu1837Val) c.3038A>T (p.Glu1013Val) | |
19 | g.35732624G>A | CA507308353 | KMT2B | n.381G>A c.6009G>A (p.Glu2003=) c.3616G>A (n.3616G>A) c.1293G>A (p.Glu431=) n.1228G>A c.1296G>A (p.Glu432=) c.5617G>A c.6075G>A (p.Glu2025=) c.704+295G>A (n.704+295G>A) c.3397G>A c.5799G>A (p.Glu1933=) c.5511G>A (p.Glu1837=) c.3039G>A (p.Glu1013=) | |
19 | g.35732624G>C | CA405425558 | KMT2B | n.381G>C c.6009G>C (p.Glu2003Asp) c.3616G>C (n.3616G>C) c.1293G>C (p.Glu431Asp) n.1228G>C c.1296G>C (p.Glu432Asp) c.5617G>C c.6075G>C (p.Glu2025Asp) c.704+295G>C (n.704+295G>C) c.3397G>C c.5799G>C (p.Glu1933Asp) c.5511G>C (p.Glu1837Asp) c.3039G>C (p.Glu1013Asp) | |
19 | g.35732624G>T | CA405425560 | KMT2B | n.381G>T c.6009G>T (p.Glu2003Asp) c.3616G>T (n.3616G>T) c.1293G>T (p.Glu431Asp) n.1228G>T c.1296G>T (p.Glu432Asp) c.5617G>T c.6075G>T (p.Glu2025Asp) c.704+295G>T (n.704+295G>T) c.3397G>T c.5799G>T (p.Glu1933Asp) c.5511G>T (p.Glu1837Asp) c.3039G>T (p.Glu1013Asp) | |
19 | g.35732625G>A | CA405425563 | KMT2B | n.382G>A c.6010G>A (p.Glu2004Lys) c.3617G>A (n.3617G>A) c.1294G>A (p.Glu432Lys) n.1229G>A c.1297G>A (p.Glu433Lys) c.5618G>A c.6076G>A (p.Glu2026Lys) c.704+296G>A (n.704+296G>A) c.3398G>A c.5800G>A (p.Glu1934Lys) c.5512G>A (p.Glu1838Lys) c.3040G>A (p.Glu1014Lys) | gnomAD v4 |
19 | g.35732625G>C | CA405425565 | KMT2B | n.382G>C c.6010G>C (p.Glu2004Gln) c.3617G>C (n.3617G>C) c.1294G>C (p.Glu432Gln) n.1229G>C c.1297G>C (p.Glu433Gln) c.5618G>C c.6076G>C (p.Glu2026Gln) c.704+296G>C (n.704+296G>C) c.3398G>C c.5800G>C (p.Glu1934Gln) c.5512G>C (p.Glu1838Gln) c.3040G>C (p.Glu1014Gln) | |
19 | g.35732625G>T | CA405425567 | KMT2B | n.382G>T c.6010G>T (p.Glu2004Ter) c.3617G>T (n.3617G>T) c.1294G>T (p.Glu432Ter) n.1229G>T c.1297G>T (p.Glu433Ter) c.5618G>T c.6076G>T (p.Glu2026Ter) c.704+296G>T (n.704+296G>T) c.3398G>T c.5800G>T (p.Glu1934Ter) c.5512G>T (p.Glu1838Ter) c.3040G>T (p.Glu1014Ter) | |
19 | g.35732626A>C | CA405425570 | KMT2B | n.383A>C c.6011A>C (p.Glu2004Ala) c.3618A>C (n.3618A>C) c.1295A>C (p.Glu432Ala) n.1230A>C c.1298A>C (p.Glu433Ala) c.5619A>C c.6077A>C (p.Glu2026Ala) c.704+297A>C (n.704+297A>C) c.3399A>C c.5801A>C (p.Glu1934Ala) c.5513A>C (p.Glu1838Ala) c.3041A>C (p.Glu1014Ala) | |
19 | g.35732626A>G | CA405425573 | KMT2B | n.383A>G c.6011A>G (p.Glu2004Gly) c.3618A>G (n.3618A>G) c.1295A>G (p.Glu432Gly) n.1230A>G c.1298A>G (p.Glu433Gly) c.5619A>G c.6077A>G (p.Glu2026Gly) c.704+297A>G (n.704+297A>G) c.3399A>G c.5801A>G (p.Glu1934Gly) c.5513A>G (p.Glu1838Gly) c.3041A>G (p.Glu1014Gly) | |
19 | g.35732626A>T | CA405425571 | KMT2B | n.383A>T c.6011A>T (p.Glu2004Val) c.3618A>T (n.3618A>T) c.1295A>T (p.Glu432Val) n.1230A>T c.1298A>T (p.Glu433Val) c.5619A>T c.6077A>T (p.Glu2026Val) c.704+297A>T (n.704+297A>T) c.3399A>T c.5801A>T (p.Glu1934Val) c.5513A>T (p.Glu1838Val) c.3041A>T (p.Glu1014Val) | |
19 | g.35732627G>A | CA507308364 | KMT2B | n.384G>A c.6012G>A (p.Glu2004=) c.3619G>A (n.3619G>A) c.1296G>A (p.Glu432=) n.1231G>A c.1299G>A (p.Glu433=) c.5620G>A c.6078G>A (p.Glu2026=) c.704+298G>A (n.704+298G>A) c.3400G>A c.5802G>A (p.Glu1934=) c.5514G>A (p.Glu1838=) c.3042G>A (p.Glu1014=) | |
19 | g.35732627G>C | CA405425575 | KMT2B | n.384G>C c.6012G>C (p.Glu2004Asp) c.3619G>C (n.3619G>C) c.1296G>C (p.Glu432Asp) n.1231G>C c.1299G>C (p.Glu433Asp) c.5620G>C c.6078G>C (p.Glu2026Asp) c.704+298G>C (n.704+298G>C) c.3400G>C c.5802G>C (p.Glu1934Asp) c.5514G>C (p.Glu1838Asp) c.3042G>C (p.Glu1014Asp) | gnomAD v4 |
19 | g.35732627G>T | CA405425578 | KMT2B | n.384G>T c.6012G>T (p.Glu2004Asp) c.3619G>T (n.3619G>T) c.1296G>T (p.Glu432Asp) n.1231G>T c.1299G>T (p.Glu433Asp) c.5620G>T c.6078G>T (p.Glu2026Asp) c.704+298G>T (n.704+298G>T) c.3400G>T c.5802G>T (p.Glu1934Asp) c.5514G>T (p.Glu1838Asp) c.3042G>T (p.Glu1014Asp) | |
19 | g.35732628G>A | CA405425580 | KMT2B | n.385G>A c.6013G>A (p.Glu2005Lys) c.3620G>A (n.3620G>A) c.1297G>A (p.Glu433Lys) n.1232G>A c.1300G>A (p.Glu434Lys) c.5621G>A c.6079G>A (p.Glu2027Lys) c.704+299G>A (n.704+299G>A) c.3401G>A c.5803G>A (p.Glu1935Lys) c.5515G>A (p.Glu1839Lys) c.3043G>A (p.Glu1015Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732628G>C | CA405425584 | KMT2B | n.385G>C c.6013G>C (p.Glu2005Gln) c.3620G>C (n.3620G>C) c.1297G>C (p.Glu433Gln) n.1232G>C c.1300G>C (p.Glu434Gln) c.5621G>C c.6079G>C (p.Glu2027Gln) c.704+299G>C (n.704+299G>C) c.3401G>C c.5803G>C (p.Glu1935Gln) c.5515G>C (p.Glu1839Gln) c.3043G>C (p.Glu1015Gln) | |
19 | g.35732628G= | CA2333794407 | KMT2B | n.385G= c.6013G= (p.Glu2005=) c.3620G= (n.3620G=) c.1297G= (p.Glu433=) n.1232G= c.1300G= (p.Glu434=) c.5621G= c.6079G= (p.Glu2027=) c.704+299G= (n.704+299G=) c.3401G= c.5803G= (p.Glu1935=) c.5515G= (p.Glu1839=) c.3043G= (p.Glu1015=) | |
19 | g.35732628G>T | CA405425581 | KMT2B | n.385G>T c.6013G>T (p.Glu2005Ter) c.3620G>T (n.3620G>T) c.1297G>T (p.Glu433Ter) n.1232G>T c.1300G>T (p.Glu434Ter) c.5621G>T c.6079G>T (p.Glu2027Ter) c.704+299G>T (n.704+299G>T) c.3401G>T c.5803G>T (p.Glu1935Ter) c.5515G>T (p.Glu1839Ter) c.3043G>T (p.Glu1015Ter) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.35732629A= | CA2333794408 | KMT2B | n.386A= c.6014A= (p.Glu2005=) c.3621A= (n.3621A=) c.1298A= (p.Glu433=) n.1233A= c.1301A= (p.Glu434=) c.5622A= c.6080A= (p.Glu2027=) c.704+300A= (n.704+300A=) c.3402A= c.5804A= (p.Glu1935=) c.5516A= (p.Glu1839=) c.3044A= (p.Glu1015=) | |
19 | g.35732629A>C | CA405425587 | KMT2B | n.386A>C c.6014A>C (p.Glu2005Ala) c.3621A>C (n.3621A>C) c.1298A>C (p.Glu433Ala) n.1233A>C c.1301A>C (p.Glu434Ala) c.5622A>C c.6080A>C (p.Glu2027Ala) c.704+300A>C (n.704+300A>C) c.3402A>C c.5804A>C (p.Glu1935Ala) c.5516A>C (p.Glu1839Ala) c.3044A>C (p.Glu1015Ala) | dbSNP gnomAD v4 |
19 | g.35732629A>G | CA405425588 | KMT2B | n.386A>G c.6014A>G (p.Glu2005Gly) c.3621A>G (n.3621A>G) c.1298A>G (p.Glu433Gly) n.1233A>G c.1301A>G (p.Glu434Gly) c.5622A>G c.6080A>G (p.Glu2027Gly) c.704+300A>G (n.704+300A>G) c.3402A>G c.5804A>G (p.Glu1935Gly) c.5516A>G (p.Glu1839Gly) c.3044A>G (p.Glu1015Gly) | gnomAD v4 |
19 | g.35732629A>T | CA405425590 | KMT2B | n.386A>T c.6014A>T (p.Glu2005Val) c.3621A>T (n.3621A>T) c.1298A>T (p.Glu433Val) n.1233A>T c.1301A>T (p.Glu434Val) c.5622A>T c.6080A>T (p.Glu2027Val) c.704+300A>T (n.704+300A>T) c.3402A>T c.5804A>T (p.Glu1935Val) c.5516A>T (p.Glu1839Val) c.3044A>T (p.Glu1015Val) | |
19 | g.35732630G>A | CA507308375 | KMT2B | n.387G>A c.6015G>A (p.Glu2005=) c.3622G>A (n.3622G>A) c.1299G>A (p.Glu433=) n.1234G>A c.1302G>A (p.Glu434=) c.5623G>A c.6081G>A (p.Glu2027=) c.704+301G>A (n.704+301G>A) c.3403G>A c.5805G>A (p.Glu1935=) c.5517G>A (p.Glu1839=) c.3045G>A (p.Glu1015=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732630G>C | CA405425593 | KMT2B | n.387G>C c.6015G>C (p.Glu2005Asp) c.3622G>C (n.3622G>C) c.1299G>C (p.Glu433Asp) n.1234G>C c.1302G>C (p.Glu434Asp) c.5623G>C c.6081G>C (p.Glu2027Asp) c.704+301G>C (n.704+301G>C) c.3403G>C c.5805G>C (p.Glu1935Asp) c.5517G>C (p.Glu1839Asp) c.3045G>C (p.Glu1015Asp) | |
19 | g.35732630G= | CA2333794409 | KMT2B | n.387G= c.6015G= (p.Glu2005=) c.3622G= (n.3622G=) c.1299G= (p.Glu433=) n.1234G= c.1302G= (p.Glu434=) c.5623G= c.6081G= (p.Glu2027=) c.704+301G= (n.704+301G=) c.3403G= c.5805G= (p.Glu1935=) c.5517G= (p.Glu1839=) c.3045G= (p.Glu1015=) | |
19 | g.35732630G>T | CA405425595 | KMT2B | n.387G>T c.6015G>T (p.Glu2005Asp) c.3622G>T (n.3622G>T) c.1299G>T (p.Glu433Asp) n.1234G>T c.1302G>T (p.Glu434Asp) c.5623G>T c.6081G>T (p.Glu2027Asp) c.704+301G>T (n.704+301G>T) c.3403G>T c.5805G>T (p.Glu1935Asp) c.5517G>T (p.Glu1839Asp) c.3045G>T (p.Glu1015Asp) | |
19 | g.35732631T>A | CA405425601 | KMT2B | n.388T>A c.6016T>A (p.Ser2006Thr) c.3623T>A (n.3623T>A) c.1300T>A (p.Ser434Thr) n.1235T>A c.1303T>A (p.Ser435Thr) c.5624T>A c.6082T>A (p.Ser2028Thr) c.704+302T>A (n.704+302T>A) c.3404T>A c.5806T>A (p.Ser1936Thr) c.5518T>A (p.Ser1840Thr) c.3046T>A (p.Ser1016Thr) | |
19 | g.35732631T>C | CA405425598 | KMT2B | n.388T>C c.6016T>C (p.Ser2006Pro) c.3623T>C (n.3623T>C) c.1300T>C (p.Ser434Pro) n.1235T>C c.1303T>C (p.Ser435Pro) c.5624T>C c.6082T>C (p.Ser2028Pro) c.704+302T>C (n.704+302T>C) c.3404T>C c.5806T>C (p.Ser1936Pro) c.5518T>C (p.Ser1840Pro) c.3046T>C (p.Ser1016Pro) | |
19 | g.35732631T>G | CA405425597 | KMT2B | n.388T>G c.6016T>G (p.Ser2006Ala) c.3623T>G (n.3623T>G) c.1300T>G (p.Ser434Ala) n.1235T>G c.1303T>G (p.Ser435Ala) c.5624T>G c.6082T>G (p.Ser2028Ala) c.704+302T>G (n.704+302T>G) c.3404T>G c.5806T>G (p.Ser1936Ala) c.5518T>G (p.Ser1840Ala) c.3046T>G (p.Ser1016Ala) | |
19 | g.35732632C>A | CA405425604 | KMT2B | n.389C>A c.6017C>A (p.Ser2006Tyr) c.3624C>A (n.3624C>A) c.1301C>A (p.Ser434Tyr) n.1236C>A c.1304C>A (p.Ser435Tyr) c.5625C>A c.6083C>A (p.Ser2028Tyr) c.704+303C>A (n.704+303C>A) c.3405C>A c.5807C>A (p.Ser1936Tyr) c.5519C>A (p.Ser1840Tyr) c.3047C>A (p.Ser1016Tyr) | gnomAD v4 |
19 | g.35732632C= | CA2333794410 | KMT2B | n.389C= c.6017C= (p.Ser2006=) c.3624C= (n.3624C=) c.1301C= (p.Ser434=) n.1236C= c.1304C= (p.Ser435=) c.5625C= c.6083C= (p.Ser2028=) c.704+303C= (n.704+303C=) c.3405C= c.5807C= (p.Ser1936=) c.5519C= (p.Ser1840=) c.3047C= (p.Ser1016=) | |
19 | g.35732632C>G | CA405425606 | KMT2B | n.389C>G c.6017C>G (p.Ser2006Cys) c.3624C>G (n.3624C>G) c.1301C>G (p.Ser434Cys) n.1236C>G c.1304C>G (p.Ser435Cys) c.5625C>G c.6083C>G (p.Ser2028Cys) c.704+303C>G (n.704+303C>G) c.3405C>G c.5807C>G (p.Ser1936Cys) c.5519C>G (p.Ser1840Cys) c.3047C>G (p.Ser1016Cys) | gnomAD v4 |
19 | g.35732632C>T | CA405425609 | KMT2B | n.389C>T c.6017C>T (p.Ser2006Phe) c.3624C>T (n.3624C>T) c.1301C>T (p.Ser434Phe) n.1236C>T c.1304C>T (p.Ser435Phe) c.5625C>T c.6083C>T (p.Ser2028Phe) c.704+303C>T (n.704+303C>T) c.3405C>T c.5807C>T (p.Ser1936Phe) c.5519C>T (p.Ser1840Phe) c.3047C>T (p.Ser1016Phe) | dbSNP gnomAD v2 COSMIC |
19 | g.35732633C>A | CA507308379 | KMT2B | n.390C>A c.6018C>A (p.Ser2006=) c.3625C>A (n.3625C>A) c.1302C>A (p.Ser434=) n.1237C>A c.1305C>A (p.Ser435=) c.5626C>A c.6084C>A (p.Ser2028=) c.704+304C>A (n.704+304C>A) c.3406C>A c.5808C>A (p.Ser1936=) c.5520C>A (p.Ser1840=) c.3048C>A (p.Ser1016=) | |
19 | g.35732633C= | CA2333794411 | KMT2B | n.390C= c.6018C= (p.Ser2006=) c.3625C= (n.3625C=) c.1302C= (p.Ser434=) n.1237C= c.1305C= (p.Ser435=) c.5626C= c.6084C= (p.Ser2028=) c.704+304C= (n.704+304C=) c.3406C= c.5808C= (p.Ser1936=) c.5520C= (p.Ser1840=) c.3048C= (p.Ser1016=) | |
19 | g.35732633C>G | CA507308380 | KMT2B | n.390C>G c.6018C>G (p.Ser2006=) c.3625C>G (n.3625C>G) c.1302C>G (p.Ser434=) n.1237C>G c.1305C>G (p.Ser435=) c.5626C>G c.6084C>G (p.Ser2028=) c.704+304C>G (n.704+304C>G) c.3406C>G c.5808C>G (p.Ser1936=) c.5520C>G (p.Ser1840=) c.3048C>G (p.Ser1016=) | |
19 | g.35732633C>T | CA507308383 | KMT2B | n.390C>T c.6018C>T (p.Ser2006=) c.3625C>T (n.3625C>T) c.1302C>T (p.Ser434=) n.1237C>T c.1305C>T (p.Ser435=) c.5626C>T c.6084C>T (p.Ser2028=) c.704+304C>T (n.704+304C>T) c.3406C>T c.5808C>T (p.Ser1936=) c.5520C>T (p.Ser1840=) c.3048C>T (p.Ser1016=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732634A= | CA2333794412 | KMT2B | n.391A= c.6019A= (p.Ser2007=) c.3626A= (n.3626A=) c.1303A= (p.Ser435=) n.1238A= c.1306A= (p.Ser436=) c.5627A= c.6085A= (p.Ser2029=) c.704+305A= (n.704+305A=) c.3407A= c.5809A= (p.Ser1937=) c.5521A= (p.Ser1841=) c.3049A= (p.Ser1017=) | |
19 | g.35732634A>C | CA405425612 | KMT2B | n.391A>C c.6019A>C (p.Ser2007Arg) c.3626A>C (n.3626A>C) c.1303A>C (p.Ser435Arg) n.1238A>C c.1306A>C (p.Ser436Arg) c.5627A>C c.6085A>C (p.Ser2029Arg) c.704+305A>C (n.704+305A>C) c.3407A>C c.5809A>C (p.Ser1937Arg) c.5521A>C (p.Ser1841Arg) c.3049A>C (p.Ser1017Arg) | gnomAD v4 |
19 | g.35732634A>G | CA405425615 | KMT2B | n.391A>G c.6019A>G (p.Ser2007Gly) c.3626A>G (n.3626A>G) c.1303A>G (p.Ser435Gly) n.1238A>G c.1306A>G (p.Ser436Gly) c.5627A>G c.6085A>G (p.Ser2029Gly) c.704+305A>G (n.704+305A>G) c.3407A>G c.5809A>G (p.Ser1937Gly) c.5521A>G (p.Ser1841Gly) c.3049A>G (p.Ser1017Gly) | ClinVar dbSNP gnomAD v4 |
19 | g.35732634A>T | CA405425617 | KMT2B | n.391A>T c.6019A>T (p.Ser2007Cys) c.3626A>T (n.3626A>T) c.1303A>T (p.Ser435Cys) n.1238A>T c.1306A>T (p.Ser436Cys) c.5627A>T c.6085A>T (p.Ser2029Cys) c.704+305A>T (n.704+305A>T) c.3407A>T c.5809A>T (p.Ser1937Cys) c.5521A>T (p.Ser1841Cys) c.3049A>T (p.Ser1017Cys) | |
19 | g.35732635G>A | CA405425624 | KMT2B | n.392G>A c.6020G>A (p.Ser2007Asn) c.3627G>A (n.3627G>A) c.1304G>A (p.Ser435Asn) n.1239G>A c.1307G>A (p.Ser436Asn) c.5628G>A c.6086G>A (p.Ser2029Asn) c.704+306G>A (n.704+306G>A) c.3408G>A c.5810G>A (p.Ser1937Asn) c.5522G>A (p.Ser1841Asn) c.3050G>A (p.Ser1017Asn) | |
19 | g.35732635G>C | CA405425620 | KMT2B | n.392G>C c.6020G>C (p.Ser2007Thr) c.3627G>C (n.3627G>C) c.1304G>C (p.Ser435Thr) n.1239G>C c.1307G>C (p.Ser436Thr) c.5628G>C c.6086G>C (p.Ser2029Thr) c.704+306G>C (n.704+306G>C) c.3408G>C c.5810G>C (p.Ser1937Thr) c.5522G>C (p.Ser1841Thr) c.3050G>C (p.Ser1017Thr) | |
19 | g.35732635G>T | CA405425622 | KMT2B | n.392G>T c.6020G>T (p.Ser2007Ile) c.3627G>T (n.3627G>T) c.1304G>T (p.Ser435Ile) n.1239G>T c.1307G>T (p.Ser436Ile) c.5628G>T c.6086G>T (p.Ser2029Ile) c.704+306G>T (n.704+306G>T) c.3408G>T c.5810G>T (p.Ser1937Ile) c.5522G>T (p.Ser1841Ile) c.3050G>T (p.Ser1017Ile) | |
19 | g.35732636C>A | CA405425627 | KMT2B | n.393C>A c.6021C>A (p.Ser2007Arg) c.3628C>A (n.3628C>A) c.1305C>A (p.Ser435Arg) n.1240C>A c.1308C>A (p.Ser436Arg) c.5629C>A c.6087C>A (p.Ser2029Arg) c.704+307C>A (n.704+307C>A) c.3409C>A c.5811C>A (p.Ser1937Arg) c.5523C>A (p.Ser1841Arg) c.3051C>A (p.Ser1017Arg) | dbSNP gnomAD v2 |
19 | g.35732636C= | CA2333794413 | KMT2B | n.393C= c.6021C= (p.Ser2007=) c.3628C= (n.3628C=) c.1305C= (p.Ser435=) n.1240C= c.1308C= (p.Ser436=) c.5629C= c.6087C= (p.Ser2029=) c.704+307C= (n.704+307C=) c.3409C= c.5811C= (p.Ser1937=) c.5523C= (p.Ser1841=) c.3051C= (p.Ser1017=) | |
19 | g.35732636C>G | CA405425629 | KMT2B | n.393C>G c.6021C>G (p.Ser2007Arg) c.3628C>G (n.3628C>G) c.1305C>G (p.Ser435Arg) n.1240C>G c.1308C>G (p.Ser436Arg) c.5629C>G c.6087C>G (p.Ser2029Arg) c.704+307C>G (n.704+307C>G) c.3409C>G c.5811C>G (p.Ser1937Arg) c.5523C>G (p.Ser1841Arg) c.3051C>G (p.Ser1017Arg) | |
19 | g.35732636C>T | CA9385602 | KMT2B | n.393C>T c.6021C>T (p.Ser2007=) c.3628C>T (n.3628C>T) c.1305C>T (p.Ser435=) n.1240C>T c.1308C>T (p.Ser436=) c.5629C>T c.6087C>T (p.Ser2029=) c.704+307C>T (n.704+307C>T) c.3409C>T c.5811C>T (p.Ser1937=) c.5523C>T (p.Ser1841=) c.3051C>T (p.Ser1017=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732639dup | CA2695228599 | KMT2B | n.396dup c.6024dup (p.Thr2009HisfsTer29) c.3631dup (n.3631dup) c.1308dup (p.Thr437HisfsTer29) n.1243dup c.1311dup (p.Thr438HisfsTer29) c.5632dup c.6090dup (p.Thr2031HisfsTer29) c.704+310dup (n.704+310dup) c.3412dup c.5814dup (p.Thr1939HisfsTer29) c.5526dup (p.Thr1843HisfsTer29) c.3054dup (p.Thr1019HisfsTer29) | |
19 | g.35732637C>A | CA405425634 | KMT2B | n.394C>A c.6022C>A (p.Pro2008Thr) c.3629C>A (n.3629C>A) c.1306C>A (p.Pro436Thr) n.1241C>A c.1309C>A (p.Pro437Thr) c.5630C>A c.6088C>A (p.Pro2030Thr) c.704+308C>A (n.704+308C>A) c.3410C>A c.5812C>A (p.Pro1938Thr) c.5524C>A (p.Pro1842Thr) c.3052C>A (p.Pro1018Thr) | |
19 | g.35732637C= | CA2333794414 | KMT2B | n.394C= c.6022C= (p.Pro2008=) c.3629C= (n.3629C=) c.1306C= (p.Pro436=) n.1241C= c.1309C= (p.Pro437=) c.5630C= c.6088C= (p.Pro2030=) c.704+308C= (n.704+308C=) c.3410C= c.5812C= (p.Pro1938=) c.5524C= (p.Pro1842=) c.3052C= (p.Pro1018=) | |
19 | g.35732637C>G | CA405425636 | KMT2B | n.394C>G c.6022C>G (p.Pro2008Ala) c.3629C>G (n.3629C>G) c.1306C>G (p.Pro436Ala) n.1241C>G c.1309C>G (p.Pro437Ala) c.5630C>G c.6088C>G (p.Pro2030Ala) c.704+308C>G (n.704+308C>G) c.3410C>G c.5812C>G (p.Pro1938Ala) c.5524C>G (p.Pro1842Ala) c.3052C>G (p.Pro1018Ala) | |
19 | g.35732637C>T | CA307796240 | KMT2B | n.394C>T c.6022C>T (p.Pro2008Ser) c.3629C>T (n.3629C>T) c.1306C>T (p.Pro436Ser) n.1241C>T c.1309C>T (p.Pro437Ser) c.5630C>T c.6088C>T (p.Pro2030Ser) c.704+308C>T (n.704+308C>T) c.3410C>T c.5812C>T (p.Pro1938Ser) c.5524C>T (p.Pro1842Ser) c.3052C>T (p.Pro1018Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732638C>A | CA405425639 | KMT2B | n.395C>A c.6023C>A (p.Pro2008His) c.3630C>A (n.3630C>A) c.1307C>A (p.Pro436His) n.1242C>A c.1310C>A (p.Pro437His) c.5631C>A c.6089C>A (p.Pro2030His) c.704+309C>A (n.704+309C>A) c.3411C>A c.5813C>A (p.Pro1938His) c.5525C>A (p.Pro1842His) c.3053C>A (p.Pro1018His) | |
19 | g.35732638C>G | CA405425640 | KMT2B | n.395C>G c.6023C>G (p.Pro2008Arg) c.3630C>G (n.3630C>G) c.1307C>G (p.Pro436Arg) n.1242C>G c.1310C>G (p.Pro437Arg) c.5631C>G c.6089C>G (p.Pro2030Arg) c.704+309C>G (n.704+309C>G) c.3411C>G c.5813C>G (p.Pro1938Arg) c.5525C>G (p.Pro1842Arg) c.3053C>G (p.Pro1018Arg) | |
19 | g.35732638C>T | CA405425642 | KMT2B | n.395C>T c.6023C>T (p.Pro2008Leu) c.3630C>T (n.3630C>T) c.1307C>T (p.Pro436Leu) n.1242C>T c.1310C>T (p.Pro437Leu) c.5631C>T c.6089C>T (p.Pro2030Leu) c.704+309C>T (n.704+309C>T) c.3411C>T c.5813C>T (p.Pro1938Leu) c.5525C>T (p.Pro1842Leu) c.3053C>T (p.Pro1018Leu) | |
19 | g.35732639C>A | CA507308392 | KMT2B | n.396C>A c.6024C>A (p.Pro2008=) c.3631C>A (n.3631C>A) c.1308C>A (p.Pro436=) n.1243C>A c.1311C>A (p.Pro437=) c.5632C>A c.6090C>A (p.Pro2030=) c.704+310C>A (n.704+310C>A) c.3412C>A c.5814C>A (p.Pro1938=) c.5526C>A (p.Pro1842=) c.3054C>A (p.Pro1018=) | |
19 | g.35732639C= | CA2333794415 | KMT2B | n.396C= c.6024C= (p.Pro2008=) c.3631C= (n.3631C=) c.1308C= (p.Pro436=) n.1243C= c.1311C= (p.Pro437=) c.5632C= c.6090C= (p.Pro2030=) c.704+310C= (n.704+310C=) c.3412C= c.5814C= (p.Pro1938=) c.5526C= (p.Pro1842=) c.3054C= (p.Pro1018=) | |
19 | g.35732639C>G | CA507308391 | KMT2B | n.396C>G c.6024C>G (p.Pro2008=) c.3631C>G (n.3631C>G) c.1308C>G (p.Pro436=) n.1243C>G c.1311C>G (p.Pro437=) c.5632C>G c.6090C>G (p.Pro2030=) c.704+310C>G (n.704+310C>G) c.3412C>G c.5814C>G (p.Pro1938=) c.5526C>G (p.Pro1842=) c.3054C>G (p.Pro1018=) | |
19 | g.35732639C>T | CA507308389 | KMT2B | n.396C>T c.6024C>T (p.Pro2008=) c.3631C>T (n.3631C>T) c.1308C>T (p.Pro436=) n.1243C>T c.1311C>T (p.Pro437=) c.5632C>T c.6090C>T (p.Pro2030=) c.704+310C>T (n.704+310C>T) c.3412C>T c.5814C>T (p.Pro1938=) c.5526C>T (p.Pro1842=) c.3054C>T (p.Pro1018=) | dbSNP gnomAD v4 |
19 | g.35732640A= | CA2333794416 | KMT2B | n.397A= c.6025A= (p.Thr2009=) c.3632A= (n.3632A=) c.1309A= (p.Thr437=) n.1244A= c.1312A= (p.Thr438=) c.5633A= c.6091A= (p.Thr2031=) c.704+311A= (n.704+311A=) c.3413A= c.5815A= (p.Thr1939=) c.5527A= (p.Thr1843=) c.3055A= (p.Thr1019=) | |
19 | g.35732640A>C | CA9385603 | KMT2B | n.397A>C c.6025A>C (p.Thr2009Pro) c.3632A>C (n.3632A>C) c.1309A>C (p.Thr437Pro) n.1244A>C c.1312A>C (p.Thr438Pro) c.5633A>C c.6091A>C (p.Thr2031Pro) c.704+311A>C (n.704+311A>C) c.3413A>C c.5815A>C (p.Thr1939Pro) c.5527A>C (p.Thr1843Pro) c.3055A>C (p.Thr1019Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732640A>G | CA307796251 | KMT2B | n.397A>G c.6025A>G (p.Thr2009Ala) c.3632A>G (n.3632A>G) c.1309A>G (p.Thr437Ala) n.1244A>G c.1312A>G (p.Thr438Ala) c.5633A>G c.6091A>G (p.Thr2031Ala) c.704+311A>G (n.704+311A>G) c.3413A>G c.5815A>G (p.Thr1939Ala) c.5527A>G (p.Thr1843Ala) c.3055A>G (p.Thr1019Ala) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35732640A>T | CA405425648 | KMT2B | n.397A>T c.6025A>T (p.Thr2009Ser) c.3632A>T (n.3632A>T) c.1309A>T (p.Thr437Ser) n.1244A>T c.1312A>T (p.Thr438Ser) c.5633A>T c.6091A>T (p.Thr2031Ser) c.704+311A>T (n.704+311A>T) c.3413A>T c.5815A>T (p.Thr1939Ser) c.5527A>T (p.Thr1843Ser) c.3055A>T (p.Thr1019Ser) | |
19 | g.35732641C>A | CA405425651 | KMT2B | n.398C>A c.6026C>A (p.Thr2009Asn) c.3633C>A (n.3633C>A) c.1310C>A (p.Thr437Asn) n.1245C>A c.1313C>A (p.Thr438Asn) c.5634C>A c.6092C>A (p.Thr2031Asn) c.704+312C>A (n.704+312C>A) c.3414C>A c.5816C>A (p.Thr1939Asn) c.5528C>A (p.Thr1843Asn) c.3056C>A (p.Thr1019Asn) | |
19 | g.35732641C= | CA2333794417 | KMT2B | n.398C= c.6026C= (p.Thr2009=) c.3633C= (n.3633C=) c.1310C= (p.Thr437=) n.1245C= c.1313C= (p.Thr438=) c.5634C= c.6092C= (p.Thr2031=) c.704+312C= (n.704+312C=) c.3414C= c.5816C= (p.Thr1939=) c.5528C= (p.Thr1843=) c.3056C= (p.Thr1019=) | |
19 | g.35732641C>G | CA405425654 | KMT2B | n.398C>G c.6026C>G (p.Thr2009Ser) c.3633C>G (n.3633C>G) c.1310C>G (p.Thr437Ser) n.1245C>G c.1313C>G (p.Thr438Ser) c.5634C>G c.6092C>G (p.Thr2031Ser) c.704+312C>G (n.704+312C>G) c.3414C>G c.5816C>G (p.Thr1939Ser) c.5528C>G (p.Thr1843Ser) c.3056C>G (p.Thr1019Ser) | |
19 | g.35732641C>T | CA405425653 | KMT2B | n.398C>T c.6026C>T (p.Thr2009Ile) c.3633C>T (n.3633C>T) c.1310C>T (p.Thr437Ile) n.1245C>T c.1313C>T (p.Thr438Ile) c.5634C>T c.6092C>T (p.Thr2031Ile) c.704+312C>T (n.704+312C>T) c.3414C>T c.5816C>T (p.Thr1939Ile) c.5528C>T (p.Thr1843Ile) c.3056C>T (p.Thr1019Ile) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732642C>A | CA507308399 | KMT2B | n.399C>A c.6027C>A (p.Thr2009=) c.3634C>A (n.3634C>A) c.1311C>A (p.Thr437=) n.1246C>A c.1314C>A (p.Thr438=) c.5635C>A c.6093C>A (p.Thr2031=) c.704+313C>A (n.704+313C>A) c.3415C>A c.5817C>A (p.Thr1939=) c.5529C>A (p.Thr1843=) c.3057C>A (p.Thr1019=) | |
19 | g.35732642C= | CA2333794418 | KMT2B | n.399C= c.6027C= (p.Thr2009=) c.3634C= (n.3634C=) c.1311C= (p.Thr437=) n.1246C= c.1314C= (p.Thr438=) c.5635C= c.6093C= (p.Thr2031=) c.704+313C= (n.704+313C=) c.3415C= c.5817C= (p.Thr1939=) c.5529C= (p.Thr1843=) c.3057C= (p.Thr1019=) | |
19 | g.35732642C>G | CA507308400 | KMT2B | n.399C>G c.6027C>G (p.Thr2009=) c.3634C>G (n.3634C>G) c.1311C>G (p.Thr437=) n.1246C>G c.1314C>G (p.Thr438=) c.5635C>G c.6093C>G (p.Thr2031=) c.704+313C>G (n.704+313C>G) c.3415C>G c.5817C>G (p.Thr1939=) c.5529C>G (p.Thr1843=) c.3057C>G (p.Thr1019=) | |
19 | g.35732642C>T | CA9385604 | KMT2B | n.399C>T c.6027C>T (p.Thr2009=) c.3634C>T (n.3634C>T) c.1311C>T (p.Thr437=) n.1246C>T c.1314C>T (p.Thr438=) c.5635C>T c.6093C>T (p.Thr2031=) c.704+313C>T (n.704+313C>T) c.3415C>T c.5817C>T (p.Thr1939=) c.5529C>T (p.Thr1843=) c.3057C>T (p.Thr1019=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732643T>A | CA405425659 | KMT2B | n.400T>A c.6028T>A (p.Ser2010Thr) c.3635T>A (n.3635T>A) c.1312T>A (p.Ser438Thr) n.1247T>A c.1315T>A (p.Ser439Thr) c.5636T>A c.6094T>A (p.Ser2032Thr) c.704+314T>A (n.704+314T>A) c.3416T>A c.5818T>A (p.Ser1940Thr) c.5530T>A (p.Ser1844Thr) c.3058T>A (p.Ser1020Thr) | |
19 | g.35732643T>C | CA405425661 | KMT2B | n.400T>C c.6028T>C (p.Ser2010Pro) c.3635T>C (n.3635T>C) c.1312T>C (p.Ser438Pro) n.1247T>C c.1315T>C (p.Ser439Pro) c.5636T>C c.6094T>C (p.Ser2032Pro) c.704+314T>C (n.704+314T>C) c.3416T>C c.5818T>C (p.Ser1940Pro) c.5530T>C (p.Ser1844Pro) c.3058T>C (p.Ser1020Pro) | |
19 | g.35732643T>G | CA405425663 | KMT2B | n.400T>G c.6028T>G (p.Ser2010Ala) c.3635T>G (n.3635T>G) c.1312T>G (p.Ser438Ala) n.1247T>G c.1315T>G (p.Ser439Ala) c.5636T>G c.6094T>G (p.Ser2032Ala) c.704+314T>G (n.704+314T>G) c.3416T>G c.5818T>G (p.Ser1940Ala) c.5530T>G (p.Ser1844Ala) c.3058T>G (p.Ser1020Ala) | gnomAD v4 |
19 | g.35732644C>A | CA405425667 | KMT2B | n.401C>A c.6029C>A (p.Ser2010Tyr) c.3636C>A (n.3636C>A) c.1313C>A (p.Ser438Tyr) n.1248C>A c.1316C>A (p.Ser439Tyr) c.5637C>A c.6095C>A (p.Ser2032Tyr) c.704+315C>A (n.704+315C>A) c.3417C>A c.5819C>A (p.Ser1940Tyr) c.5531C>A (p.Ser1844Tyr) c.3059C>A (p.Ser1020Tyr) | |
19 | g.35732644C= | CA2333794419 | KMT2B | n.401C= c.6029C= (p.Ser2010=) c.3636C= (n.3636C=) c.1313C= (p.Ser438=) n.1248C= c.1316C= (p.Ser439=) c.5637C= c.6095C= (p.Ser2032=) c.704+315C= (n.704+315C=) c.3417C= c.5819C= (p.Ser1940=) c.5531C= (p.Ser1844=) c.3059C= (p.Ser1020=) | |
19 | g.35732644C>G | CA405425669 | KMT2B | n.401C>G c.6029C>G (p.Ser2010Cys) c.3636C>G (n.3636C>G) c.1313C>G (p.Ser438Cys) n.1248C>G c.1316C>G (p.Ser439Cys) c.5637C>G c.6095C>G (p.Ser2032Cys) c.704+315C>G (n.704+315C>G) c.3417C>G c.5819C>G (p.Ser1940Cys) c.5531C>G (p.Ser1844Cys) c.3059C>G (p.Ser1020Cys) | gnomAD v4 |
19 | g.35732644C>T | CA9385605 | KMT2B | n.401C>T c.6029C>T (p.Ser2010Phe) c.3636C>T (n.3636C>T) c.1313C>T (p.Ser438Phe) n.1248C>T c.1316C>T (p.Ser439Phe) c.5637C>T c.6095C>T (p.Ser2032Phe) c.704+315C>T (n.704+315C>T) c.3417C>T c.5819C>T (p.Ser1940Phe) c.5531C>T (p.Ser1844Phe) c.3059C>T (p.Ser1020Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732645C>A | CA507308407 | KMT2B | n.402C>A c.6030C>A (p.Ser2010=) c.3637C>A (n.3637C>A) c.1314C>A (p.Ser438=) n.1249C>A c.1317C>A (p.Ser439=) c.5638C>A c.6096C>A (p.Ser2032=) c.704+316C>A (n.704+316C>A) c.3418C>A c.5820C>A (p.Ser1940=) c.5532C>A (p.Ser1844=) c.3060C>A (p.Ser1020=) | |
19 | g.35732645C>G | CA507308408 | KMT2B | n.402C>G c.6030C>G (p.Ser2010=) c.3637C>G (n.3637C>G) c.1314C>G (p.Ser438=) n.1249C>G c.1317C>G (p.Ser439=) c.5638C>G c.6096C>G (p.Ser2032=) c.704+316C>G (n.704+316C>G) c.3418C>G c.5820C>G (p.Ser1940=) c.5532C>G (p.Ser1844=) c.3060C>G (p.Ser1020=) | |
19 | g.35732645C>T | CA507308410 | KMT2B | n.402C>T c.6030C>T (p.Ser2010=) c.3637C>T (n.3637C>T) c.1314C>T (p.Ser438=) n.1249C>T c.1317C>T (p.Ser439=) c.5638C>T c.6096C>T (p.Ser2032=) c.704+316C>T (n.704+316C>T) c.3418C>T c.5820C>T (p.Ser1940=) c.5532C>T (p.Ser1844=) c.3060C>T (p.Ser1020=) | gnomAD v4 COSMIC |
19 | g.35732646C>A | CA405425673 | KMT2B | n.403C>A c.6031C>A (p.Arg2011Ser) c.3638C>A (n.3638C>A) c.1315C>A (p.Arg439Ser) n.1250C>A c.1318C>A (p.Arg440Ser) c.5639C>A c.6097C>A (p.Arg2033Ser) c.704+317C>A (n.704+317C>A) c.3419C>A c.5821C>A (p.Arg1941Ser) c.5533C>A (p.Arg1845Ser) c.3061C>A (p.Arg1021Ser) | gnomAD v4 |
19 | g.35732646C= | CA2333794420 | KMT2B | n.403C= c.6031C= (p.Arg2011=) c.3638C= (n.3638C=) c.1315C= (p.Arg439=) n.1250C= c.1318C= (p.Arg440=) c.5639C= c.6097C= (p.Arg2033=) c.704+317C= (n.704+317C=) c.3419C= c.5821C= (p.Arg1941=) c.5533C= (p.Arg1845=) c.3061C= (p.Arg1021=) | |
19 | g.35732646C>G | CA405425675 | KMT2B | n.403C>G c.6031C>G (p.Arg2011Gly) c.3638C>G (n.3638C>G) c.1315C>G (p.Arg439Gly) n.1250C>G c.1318C>G (p.Arg440Gly) c.5639C>G c.6097C>G (p.Arg2033Gly) c.704+317C>G (n.704+317C>G) c.3419C>G c.5821C>G (p.Arg1941Gly) c.5533C>G (p.Arg1845Gly) c.3061C>G (p.Arg1021Gly) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35732646C>T | CA9385606 | KMT2B | n.403C>T c.6031C>T (p.Arg2011Cys) c.3638C>T (n.3638C>T) c.1315C>T (p.Arg439Cys) n.1250C>T c.1318C>T (p.Arg440Cys) c.5639C>T c.6097C>T (p.Arg2033Cys) c.704+317C>T (n.704+317C>T) c.3419C>T c.5821C>T (p.Arg1941Cys) c.5533C>T (p.Arg1845Cys) c.3061C>T (p.Arg1021Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35732647G>A | CA9385607 | KMT2B | n.404G>A c.6032G>A (p.Arg2011His) c.3639G>A (n.3639G>A) c.1316G>A (p.Arg439His) n.1251G>A c.1319G>A (p.Arg440His) c.5640G>A c.6098G>A (p.Arg2033His) c.704+318G>A (n.704+318G>A) c.3420G>A c.5822G>A (p.Arg1941His) c.5534G>A (p.Arg1845His) c.3062G>A (p.Arg1021His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732647G>C | CA405425680 | KMT2B | n.404G>C c.6032G>C (p.Arg2011Pro) c.3639G>C (n.3639G>C) c.1316G>C (p.Arg439Pro) n.1251G>C c.1319G>C (p.Arg440Pro) c.5640G>C c.6098G>C (p.Arg2033Pro) c.704+318G>C (n.704+318G>C) c.3420G>C c.5822G>C (p.Arg1941Pro) c.5534G>C (p.Arg1845Pro) c.3062G>C (p.Arg1021Pro) | |
19 | g.35732647G= | CA2333794421 | KMT2B | n.404G= c.6032G= (p.Arg2011=) c.3639G= (n.3639G=) c.1316G= (p.Arg439=) n.1251G= c.1319G= (p.Arg440=) c.5640G= c.6098G= (p.Arg2033=) c.704+318G= (n.704+318G=) c.3420G= c.5822G= (p.Arg1941=) c.5534G= (p.Arg1845=) c.3062G= (p.Arg1021=) | |
19 | g.35732647G>T | CA405425681 | KMT2B | n.404G>T c.6032G>T (p.Arg2011Leu) c.3639G>T (n.3639G>T) c.1316G>T (p.Arg439Leu) n.1251G>T c.1319G>T (p.Arg440Leu) c.5640G>T c.6098G>T (p.Arg2033Leu) c.704+318G>T (n.704+318G>T) c.3420G>T c.5822G>T (p.Arg1941Leu) c.5534G>T (p.Arg1845Leu) c.3062G>T (p.Arg1021Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732648C>A | CA507308418 | KMT2B | n.405C>A c.6033C>A (p.Arg2011=) c.3640C>A (n.3640C>A) c.1317C>A (p.Arg439=) n.1252C>A c.1320C>A (p.Arg440=) c.5641C>A c.6099C>A (p.Arg2033=) c.704+319C>A (n.704+319C>A) c.3421C>A c.5823C>A (p.Arg1941=) c.5535C>A (p.Arg1845=) c.3063C>A (p.Arg1021=) | |
19 | g.35732648C= | CA2333794422 | KMT2B | n.405C= c.6033C= (p.Arg2011=) c.3640C= (n.3640C=) c.1317C= (p.Arg439=) n.1252C= c.1320C= (p.Arg440=) c.5641C= c.6099C= (p.Arg2033=) c.704+319C= (n.704+319C=) c.3421C= c.5823C= (p.Arg1941=) c.5535C= (p.Arg1845=) c.3063C= (p.Arg1021=) | |
19 | g.35732648C>G | CA507308421 | KMT2B | n.405C>G c.6033C>G (p.Arg2011=) c.3640C>G (n.3640C>G) c.1317C>G (p.Arg439=) n.1252C>G c.1320C>G (p.Arg440=) c.5641C>G c.6099C>G (p.Arg2033=) c.704+319C>G (n.704+319C>G) c.3421C>G c.5823C>G (p.Arg1941=) c.5535C>G (p.Arg1845=) c.3063C>G (p.Arg1021=) | |
19 | g.35732648C>T | CA307796268 | KMT2B | n.405C>T c.6033C>T (p.Arg2011=) c.3640C>T (n.3640C>T) c.1317C>T (p.Arg439=) n.1252C>T c.1320C>T (p.Arg440=) c.5641C>T c.6099C>T (p.Arg2033=) c.704+319C>T (n.704+319C>T) c.3421C>T c.5823C>T (p.Arg1941=) c.5535C>T (p.Arg1845=) c.3063C>T (p.Arg1021=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732649T>A | CA405425682 | KMT2B | n.406T>A c.6034T>A (p.Tyr2012Asn) c.3641T>A (n.3641T>A) c.1318T>A (p.Tyr440Asn) n.1253T>A c.1321T>A (p.Tyr441Asn) c.5642T>A c.6100T>A (p.Tyr2034Asn) c.704+320T>A (n.704+320T>A) c.3422T>A c.5824T>A (p.Tyr1942Asn) c.5536T>A (p.Tyr1846Asn) c.3064T>A (p.Tyr1022Asn) | |
19 | g.35732649T>C | CA405425684 | KMT2B | n.406T>C c.6034T>C (p.Tyr2012His) c.3641T>C (n.3641T>C) c.1318T>C (p.Tyr440His) n.1253T>C c.1321T>C (p.Tyr441His) c.5642T>C c.6100T>C (p.Tyr2034His) c.704+320T>C (n.704+320T>C) c.3422T>C c.5824T>C (p.Tyr1942His) c.5536T>C (p.Tyr1846His) c.3064T>C (p.Tyr1022His) | gnomAD v4 |
19 | g.35732649T>G | CA405425683 | KMT2B | n.406T>G c.6034T>G (p.Tyr2012Asp) c.3641T>G (n.3641T>G) c.1318T>G (p.Tyr440Asp) n.1253T>G c.1321T>G (p.Tyr441Asp) c.5642T>G c.6100T>G (p.Tyr2034Asp) c.704+320T>G (n.704+320T>G) c.3422T>G c.5824T>G (p.Tyr1942Asp) c.5536T>G (p.Tyr1846Asp) c.3064T>G (p.Tyr1022Asp) | |
19 | g.35732650A>C | CA405425685 | KMT2B | n.407A>C c.6035A>C (p.Tyr2012Ser) c.3642A>C (n.3642A>C) c.1319A>C (p.Tyr440Ser) n.1254A>C c.1322A>C (p.Tyr441Ser) c.5643A>C c.6101A>C (p.Tyr2034Ser) c.704+321A>C (n.704+321A>C) c.3423A>C c.5825A>C (p.Tyr1942Ser) c.5537A>C (p.Tyr1846Ser) c.3065A>C (p.Tyr1022Ser) | |
19 | g.35732650A>G | CA405425686 | KMT2B | n.407A>G c.6035A>G (p.Tyr2012Cys) c.3642A>G (n.3642A>G) c.1319A>G (p.Tyr440Cys) n.1254A>G c.1322A>G (p.Tyr441Cys) c.5643A>G c.6101A>G (p.Tyr2034Cys) c.704+321A>G (n.704+321A>G) c.3423A>G c.5825A>G (p.Tyr1942Cys) c.5537A>G (p.Tyr1846Cys) c.3065A>G (p.Tyr1022Cys) | |
19 | g.35732650A>T | CA405425687 | KMT2B | n.407A>T c.6035A>T (p.Tyr2012Phe) c.3642A>T (n.3642A>T) c.1319A>T (p.Tyr440Phe) n.1254A>T c.1322A>T (p.Tyr441Phe) c.5643A>T c.6101A>T (p.Tyr2034Phe) c.704+321A>T (n.704+321A>T) c.3423A>T c.5825A>T (p.Tyr1942Phe) c.5537A>T (p.Tyr1846Phe) c.3065A>T (p.Tyr1022Phe) | |
19 | g.35732651C>A | CA405425688 | KMT2B | n.408C>A c.6036C>A (p.Tyr2012Ter) c.3643C>A (n.3643C>A) c.1320C>A (p.Tyr440Ter) n.1255C>A c.1323C>A (p.Tyr441Ter) c.5644C>A c.6102C>A (p.Tyr2034Ter) c.704+322C>A (n.704+322C>A) c.3424C>A c.5826C>A (p.Tyr1942Ter) c.5538C>A (p.Tyr1846Ter) c.3066C>A (p.Tyr1022Ter) | |
19 | g.35732651C= | CA2333794423 | KMT2B | n.408C= c.6036C= (p.Tyr2012=) c.3643C= (n.3643C=) c.1320C= (p.Tyr440=) n.1255C= c.1323C= (p.Tyr441=) c.5644C= c.6102C= (p.Tyr2034=) c.704+322C= (n.704+322C=) c.3424C= c.5826C= (p.Tyr1942=) c.5538C= (p.Tyr1846=) c.3066C= (p.Tyr1022=) | |
19 | g.35732651C>G | CA405425689 | KMT2B | n.408C>G c.6036C>G (p.Tyr2012Ter) c.3643C>G (n.3643C>G) c.1320C>G (p.Tyr440Ter) n.1255C>G c.1323C>G (p.Tyr441Ter) c.5644C>G c.6102C>G (p.Tyr2034Ter) c.704+322C>G (n.704+322C>G) c.3424C>G c.5826C>G (p.Tyr1942Ter) c.5538C>G (p.Tyr1846Ter) c.3066C>G (p.Tyr1022Ter) | |
19 | g.35732651C>T | CA507308431 | KMT2B | n.408C>T c.6036C>T (p.Tyr2012=) c.3643C>T (n.3643C>T) c.1320C>T (p.Tyr440=) n.1255C>T c.1323C>T (p.Tyr441=) c.5644C>T c.6102C>T (p.Tyr2034=) c.704+322C>T (n.704+322C>T) c.3424C>T c.5826C>T (p.Tyr1942=) c.5538C>T (p.Tyr1846=) c.3066C>T (p.Tyr1022=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35732652A= | CA2333794424 | KMT2B | n.409A= c.6037A= (p.Ile2013=) c.3644A= (n.3644A=) c.1321A= (p.Ile441=) n.1256A= c.1324A= (p.Ile442=) c.5645A= c.6103A= (p.Ile2035=) c.704+323A= (n.704+323A=) c.3425A= c.5827A= (p.Ile1943=) c.5539A= (p.Ile1847=) c.3067A= (p.Ile1023=) | |
19 | g.35732652A>C | CA405425690 | KMT2B | n.409A>C c.6037A>C (p.Ile2013Leu) c.3644A>C (n.3644A>C) c.1321A>C (p.Ile441Leu) n.1256A>C c.1324A>C (p.Ile442Leu) c.5645A>C c.6103A>C (p.Ile2035Leu) c.704+323A>C (n.704+323A>C) c.3425A>C c.5827A>C (p.Ile1943Leu) c.5539A>C (p.Ile1847Leu) c.3067A>C (p.Ile1023Leu) | |
19 | g.35732652A>G | CA9385608 | KMT2B | n.409A>G c.6037A>G (p.Ile2013Val) c.3644A>G (n.3644A>G) c.1321A>G (p.Ile441Val) n.1256A>G c.1324A>G (p.Ile442Val) c.5645A>G c.6103A>G (p.Ile2035Val) c.704+323A>G (n.704+323A>G) c.3425A>G c.5827A>G (p.Ile1943Val) c.5539A>G (p.Ile1847Val) c.3067A>G (p.Ile1023Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732652A>T | CA405425691 | KMT2B | n.409A>T c.6037A>T (p.Ile2013Phe) c.3644A>T (n.3644A>T) c.1321A>T (p.Ile441Phe) n.1256A>T c.1324A>T (p.Ile442Phe) c.5645A>T c.6103A>T (p.Ile2035Phe) c.704+323A>T (n.704+323A>T) c.3425A>T c.5827A>T (p.Ile1943Phe) c.5539A>T (p.Ile1847Phe) c.3067A>T (p.Ile1023Phe) | |
19 | g.35732653T>A | CA405425692 | KMT2B | n.410T>A c.6038T>A (p.Ile2013Asn) c.3645T>A (n.3645T>A) c.1322T>A (p.Ile441Asn) n.1257T>A c.1325T>A (p.Ile442Asn) c.5646T>A c.6104T>A (p.Ile2035Asn) c.704+324T>A (n.704+324T>A) c.3426T>A c.5828T>A (p.Ile1943Asn) c.5540T>A (p.Ile1847Asn) c.3068T>A (p.Ile1023Asn) | |
19 | g.35732653T>C | CA405425693 | KMT2B | n.410T>C c.6038T>C (p.Ile2013Thr) c.3645T>C (n.3645T>C) c.1322T>C (p.Ile441Thr) n.1257T>C c.1325T>C (p.Ile442Thr) c.5646T>C c.6104T>C (p.Ile2035Thr) c.704+324T>C (n.704+324T>C) c.3426T>C c.5828T>C (p.Ile1943Thr) c.5540T>C (p.Ile1847Thr) c.3068T>C (p.Ile1023Thr) | |
19 | g.35732653T>G | CA405425694 | KMT2B | n.410T>G c.6038T>G (p.Ile2013Ser) c.3645T>G (n.3645T>G) c.1322T>G (p.Ile441Ser) n.1257T>G c.1325T>G (p.Ile442Ser) c.5646T>G c.6104T>G (p.Ile2035Ser) c.704+324T>G (n.704+324T>G) c.3426T>G c.5828T>G (p.Ile1943Ser) c.5540T>G (p.Ile1847Ser) c.3068T>G (p.Ile1023Ser) | |
19 | g.35732654C>A | CA507308439 | KMT2B | n.411C>A c.6039C>A (p.Ile2013=) c.3646C>A (n.3646C>A) c.1323C>A (p.Ile441=) n.1258C>A c.1326C>A (p.Ile442=) c.5647C>A c.6105C>A (p.Ile2035=) c.704+325C>A (n.704+325C>A) c.3427C>A c.5829C>A (p.Ile1943=) c.5541C>A (p.Ile1847=) c.3069C>A (p.Ile1023=) | |
19 | g.35732654C= | CA2333794425 | KMT2B | n.411C= c.6039C= (p.Ile2013=) c.3646C= (n.3646C=) c.1323C= (p.Ile441=) n.1258C= c.1326C= (p.Ile442=) c.5647C= c.6105C= (p.Ile2035=) c.704+325C= (n.704+325C=) c.3427C= c.5829C= (p.Ile1943=) c.5541C= (p.Ile1847=) c.3069C= (p.Ile1023=) | |
19 | g.35732654C>G | CA405425695 | KMT2B | n.411C>G c.6039C>G (p.Ile2013Met) c.3646C>G (n.3646C>G) c.1323C>G (p.Ile441Met) n.1258C>G c.1326C>G (p.Ile442Met) c.5647C>G c.6105C>G (p.Ile2035Met) c.704+325C>G (n.704+325C>G) c.3427C>G c.5829C>G (p.Ile1943Met) c.5541C>G (p.Ile1847Met) c.3069C>G (p.Ile1023Met) | |
19 | g.35732654C>T | CA507308440 | KMT2B | n.411C>T c.6039C>T (p.Ile2013=) c.3646C>T (n.3646C>T) c.1323C>T (p.Ile441=) n.1258C>T c.1326C>T (p.Ile442=) c.5647C>T c.6105C>T (p.Ile2035=) c.704+325C>T (n.704+325C>T) c.3427C>T c.5829C>T (p.Ile1943=) c.5541C>T (p.Ile1847=) c.3069C>T (p.Ile1023=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732655C>A | CA405425697 | KMT2B | n.412C>A c.6040C>A (p.His2014Asn) c.3647C>A (n.3647C>A) c.1324C>A (p.His442Asn) n.1259C>A c.1327C>A (p.His443Asn) c.5648C>A c.6106C>A (p.His2036Asn) c.704+326C>A (n.704+326C>A) c.3428C>A c.5830C>A (p.His1944Asn) c.5542C>A (p.His1848Asn) c.3070C>A (p.His1024Asn) | |
19 | g.35732655C= | CA2333794426 | KMT2B | n.412C= c.6040C= (p.His2014=) c.3647C= (n.3647C=) c.1324C= (p.His442=) n.1259C= c.1327C= (p.His443=) c.5648C= c.6106C= (p.His2036=) c.704+326C= (n.704+326C=) c.3428C= c.5830C= (p.His1944=) c.5542C= (p.His1848=) c.3070C= (p.His1024=) | |
19 | g.35732655C>G | CA405425696 | KMT2B | n.412C>G c.6040C>G (p.His2014Asp) c.3647C>G (n.3647C>G) c.1324C>G (p.His442Asp) n.1259C>G c.1327C>G (p.His443Asp) c.5648C>G c.6106C>G (p.His2036Asp) c.704+326C>G (n.704+326C>G) c.3428C>G c.5830C>G (p.His1944Asp) c.5542C>G (p.His1848Asp) c.3070C>G (p.His1024Asp) | dbSNP |
19 | g.35732655C>T | CA405425698 | KMT2B | n.412C>T c.6040C>T (p.His2014Tyr) c.3647C>T (n.3647C>T) c.1324C>T (p.His442Tyr) n.1259C>T c.1327C>T (p.His443Tyr) c.5648C>T c.6106C>T (p.His2036Tyr) c.704+326C>T (n.704+326C>T) c.3428C>T c.5830C>T (p.His1944Tyr) c.5542C>T (p.His1848Tyr) c.3070C>T (p.His1024Tyr) | gnomAD v4 COSMIC |
19 | g.35732656A= | CA2333794427 | KMT2B | n.413A= c.6041A= (p.His2014=) c.3648A= (n.3648A=) c.1325A= (p.His442=) n.1260A= c.1328A= (p.His443=) c.5649A= c.6107A= (p.His2036=) c.704+327A= (n.704+327A=) c.3429A= c.5831A= (p.His1944=) c.5543A= (p.His1848=) c.3071A= (p.His1024=) | |
19 | g.35732656A>C | CA405425699 | KMT2B | n.413A>C c.6041A>C (p.His2014Pro) c.3648A>C (n.3648A>C) c.1325A>C (p.His442Pro) n.1260A>C c.1328A>C (p.His443Pro) c.5649A>C c.6107A>C (p.His2036Pro) c.704+327A>C (n.704+327A>C) c.3429A>C c.5831A>C (p.His1944Pro) c.5543A>C (p.His1848Pro) c.3071A>C (p.His1024Pro) | |
19 | g.35732656A>G | CA405425700 | KMT2B | n.413A>G c.6041A>G (p.His2014Arg) c.3648A>G (n.3648A>G) c.1325A>G (p.His442Arg) n.1260A>G c.1328A>G (p.His443Arg) c.5649A>G c.6107A>G (p.His2036Arg) c.704+327A>G (n.704+327A>G) c.3429A>G c.5831A>G (p.His1944Arg) c.5543A>G (p.His1848Arg) c.3071A>G (p.His1024Arg) | dbSNP |
19 | g.35732656A>T | CA405425701 | KMT2B | n.413A>T c.6041A>T (p.His2014Leu) c.3648A>T (n.3648A>T) c.1325A>T (p.His442Leu) n.1260A>T c.1328A>T (p.His443Leu) c.5649A>T c.6107A>T (p.His2036Leu) c.704+327A>T (n.704+327A>T) c.3429A>T c.5831A>T (p.His1944Leu) c.5543A>T (p.His1848Leu) c.3071A>T (p.His1024Leu) | |
19 | g.35732657C>A | CA405425702 | KMT2B | n.414C>A c.6042C>A (p.His2014Gln) c.3649C>A (n.3649C>A) c.1326C>A (p.His442Gln) n.1261C>A c.1329C>A (p.His443Gln) c.5650C>A c.6108C>A (p.His2036Gln) c.704+328C>A (n.704+328C>A) c.3430C>A c.5832C>A (p.His1944Gln) c.5544C>A (p.His1848Gln) c.3072C>A (p.His1024Gln) | |
19 | g.35732657C= | CA2333794428 | KMT2B | n.414C= c.6042C= (p.His2014=) c.3649C= (n.3649C=) c.1326C= (p.His442=) n.1261C= c.1329C= (p.His443=) c.5650C= c.6108C= (p.His2036=) c.704+328C= (n.704+328C=) c.3430C= c.5832C= (p.His1944=) c.5544C= (p.His1848=) c.3072C= (p.His1024=) | |
19 | g.35732657C>G | CA405425703 | KMT2B | n.414C>G c.6042C>G (p.His2014Gln) c.3649C>G (n.3649C>G) c.1326C>G (p.His442Gln) n.1261C>G c.1329C>G (p.His443Gln) c.5650C>G c.6108C>G (p.His2036Gln) c.704+328C>G (n.704+328C>G) c.3430C>G c.5832C>G (p.His1944Gln) c.5544C>G (p.His1848Gln) c.3072C>G (p.His1024Gln) | |
19 | g.35732657C>T | CA507308450 | KMT2B | n.414C>T c.6042C>T (p.His2014=) c.3649C>T (n.3649C>T) c.1326C>T (p.His442=) n.1261C>T c.1329C>T (p.His443=) c.5650C>T c.6108C>T (p.His2036=) c.704+328C>T (n.704+328C>T) c.3430C>T c.5832C>T (p.His1944=) c.5544C>T (p.His1848=) c.3072C>T (p.His1024=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732658T>A | CA405425704 | KMT2B | n.415T>A c.6043T>A (p.Phe2015Ile) c.3650T>A (n.3650T>A) c.1327T>A (p.Phe443Ile) n.1262T>A c.1330T>A (p.Phe444Ile) c.5651T>A c.6109T>A (p.Phe2037Ile) c.704+329T>A (n.704+329T>A) c.3431T>A c.5833T>A (p.Phe1945Ile) c.5545T>A (p.Phe1849Ile) c.3073T>A (p.Phe1025Ile) | |
19 | g.35732658T>C | CA405425705 | KMT2B | n.415T>C c.6043T>C (p.Phe2015Leu) c.3650T>C (n.3650T>C) c.1327T>C (p.Phe443Leu) n.1262T>C c.1330T>C (p.Phe444Leu) c.5651T>C c.6109T>C (p.Phe2037Leu) c.704+329T>C (n.704+329T>C) c.3431T>C c.5833T>C (p.Phe1945Leu) c.5545T>C (p.Phe1849Leu) c.3073T>C (p.Phe1025Leu) | |
19 | g.35732658T>G | CA405425706 | KMT2B | n.415T>G c.6043T>G (p.Phe2015Val) c.3650T>G (n.3650T>G) c.1327T>G (p.Phe443Val) n.1262T>G c.1330T>G (p.Phe444Val) c.5651T>G c.6109T>G (p.Phe2037Val) c.704+329T>G (n.704+329T>G) c.3431T>G c.5833T>G (p.Phe1945Val) c.5545T>G (p.Phe1849Val) c.3073T>G (p.Phe1025Val) | |
19 | g.35732659T>A | CA405425707 | KMT2B | n.416T>A c.6044T>A (p.Phe2015Tyr) c.3651T>A (n.3651T>A) c.1328T>A (p.Phe443Tyr) n.1263T>A c.1331T>A (p.Phe444Tyr) c.5652T>A c.6110T>A (p.Phe2037Tyr) c.704+330T>A (n.704+330T>A) c.3432T>A c.5834T>A (p.Phe1945Tyr) c.5546T>A (p.Phe1849Tyr) c.3074T>A (p.Phe1025Tyr) | |
19 | g.35732659T>C | CA405425708 | KMT2B | n.416T>C c.6044T>C (p.Phe2015Ser) c.3651T>C (n.3651T>C) c.1328T>C (p.Phe443Ser) n.1263T>C c.1331T>C (p.Phe444Ser) c.5652T>C c.6110T>C (p.Phe2037Ser) c.704+330T>C (n.704+330T>C) c.3432T>C c.5834T>C (p.Phe1945Ser) c.5546T>C (p.Phe1849Ser) c.3074T>C (p.Phe1025Ser) | |
19 | g.35732659T>G | CA405425709 | KMT2B | n.416T>G c.6044T>G (p.Phe2015Cys) c.3651T>G (n.3651T>G) c.1328T>G (p.Phe443Cys) n.1263T>G c.1331T>G (p.Phe444Cys) c.5652T>G c.6110T>G (p.Phe2037Cys) c.704+330T>G (n.704+330T>G) c.3432T>G c.5834T>G (p.Phe1945Cys) c.5546T>G (p.Phe1849Cys) c.3074T>G (p.Phe1025Cys) | |
19 | g.35732660C>A | CA405425711 | KMT2B | n.417C>A c.6045C>A (p.Phe2015Leu) c.3652C>A (n.3652C>A) c.1329C>A (p.Phe443Leu) n.1264C>A c.1332C>A (p.Phe444Leu) c.5653C>A c.6111C>A (p.Phe2037Leu) c.704+331C>A (n.704+331C>A) c.3433C>A c.5835C>A (p.Phe1945Leu) c.5547C>A (p.Phe1849Leu) c.3075C>A (p.Phe1025Leu) | ClinVar |
19 | g.35732660C= | CA2333794429 | KMT2B | n.417C= c.6045C= (p.Phe2015=) c.3652C= (n.3652C=) c.1329C= (p.Phe443=) n.1264C= c.1332C= (p.Phe444=) c.5653C= c.6111C= (p.Phe2037=) c.704+331C= (n.704+331C=) c.3433C= c.5835C= (p.Phe1945=) c.5547C= (p.Phe1849=) c.3075C= (p.Phe1025=) | |
19 | g.35732660C>G | CA405425710 | KMT2B | n.417C>G c.6045C>G (p.Phe2015Leu) c.3652C>G (n.3652C>G) c.1329C>G (p.Phe443Leu) n.1264C>G c.1332C>G (p.Phe444Leu) c.5653C>G c.6111C>G (p.Phe2037Leu) c.704+331C>G (n.704+331C>G) c.3433C>G c.5835C>G (p.Phe1945Leu) c.5547C>G (p.Phe1849Leu) c.3075C>G (p.Phe1025Leu) | |
19 | g.35732660C>T | CA9385609 | KMT2B | n.417C>T c.6045C>T (p.Phe2015=) c.3652C>T (n.3652C>T) c.1329C>T (p.Phe443=) n.1264C>T c.1332C>T (p.Phe444=) c.5653C>T c.6111C>T (p.Phe2037=) c.704+331C>T (n.704+331C>T) c.3433C>T c.5835C>T (p.Phe1945=) c.5547C>T (p.Phe1849=) c.3075C>T (p.Phe1025=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35732661C>A | CA405425712 | KMT2B | n.418C>A c.6046C>A (p.Pro2016Thr) c.3653C>A (n.3653C>A) c.1330C>A (p.Pro444Thr) n.1265C>A c.1333C>A (p.Pro445Thr) c.5654C>A c.6112C>A (p.Pro2038Thr) c.704+332C>A (n.704+332C>A) c.3434C>A c.5836C>A (p.Pro1946Thr) c.5548C>A (p.Pro1850Thr) c.3076C>A (p.Pro1026Thr) | |
19 | g.35732661C= | CA2333794430 | KMT2B | n.418C= c.6046C= (p.Pro2016=) c.3653C= (n.3653C=) c.1330C= (p.Pro444=) n.1265C= c.1333C= (p.Pro445=) c.5654C= c.6112C= (p.Pro2038=) c.704+332C= (n.704+332C=) c.3434C= c.5836C= (p.Pro1946=) c.5548C= (p.Pro1850=) c.3076C= (p.Pro1026=) | |
19 | g.35732661C>G | CA405425713 | KMT2B | n.418C>G c.6046C>G (p.Pro2016Ala) c.3653C>G (n.3653C>G) c.1330C>G (p.Pro444Ala) n.1265C>G c.1333C>G (p.Pro445Ala) c.5654C>G c.6112C>G (p.Pro2038Ala) c.704+332C>G (n.704+332C>G) c.3434C>G c.5836C>G (p.Pro1946Ala) c.5548C>G (p.Pro1850Ala) c.3076C>G (p.Pro1026Ala) | |
19 | g.35732661C>T | CA405425714 | KMT2B | n.418C>T c.6046C>T (p.Pro2016Ser) c.3653C>T (n.3653C>T) c.1330C>T (p.Pro444Ser) n.1265C>T c.1333C>T (p.Pro445Ser) c.5654C>T c.6112C>T (p.Pro2038Ser) c.704+332C>T (n.704+332C>T) c.3434C>T c.5836C>T (p.Pro1946Ser) c.5548C>T (p.Pro1850Ser) c.3076C>T (p.Pro1026Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732662C>A | CA405425715 | KMT2B | n.419C>A c.6047C>A (p.Pro2016His) c.3654C>A (n.3654C>A) c.1331C>A (p.Pro444His) n.1266C>A c.1334C>A (p.Pro445His) c.5655C>A c.6113C>A (p.Pro2038His) c.704+333C>A (n.704+333C>A) c.3435C>A c.5837C>A (p.Pro1946His) c.5549C>A (p.Pro1850His) c.3077C>A (p.Pro1026His) | |
19 | g.35732662C>G | CA405425716 | KMT2B | n.419C>G c.6047C>G (p.Pro2016Arg) c.3654C>G (n.3654C>G) c.1331C>G (p.Pro444Arg) n.1266C>G c.1334C>G (p.Pro445Arg) c.5655C>G c.6113C>G (p.Pro2038Arg) c.704+333C>G (n.704+333C>G) c.3435C>G c.5837C>G (p.Pro1946Arg) c.5549C>G (p.Pro1850Arg) c.3077C>G (p.Pro1026Arg) | |
19 | g.35732662C>T | CA405425717 | KMT2B | n.419C>T c.6047C>T (p.Pro2016Leu) c.3654C>T (n.3654C>T) c.1331C>T (p.Pro444Leu) n.1266C>T c.1334C>T (p.Pro445Leu) c.5655C>T c.6113C>T (p.Pro2038Leu) c.704+333C>T (n.704+333C>T) c.3435C>T c.5837C>T (p.Pro1946Leu) c.5549C>T (p.Pro1850Leu) c.3077C>T (p.Pro1026Leu) | gnomAD v4 |
19 | g.35732663T>A | CA507308480 | KMT2B | n.420T>A c.6048T>A (p.Pro2016=) c.3655T>A (n.3655T>A) c.1332T>A (p.Pro444=) n.1267T>A c.1335T>A (p.Pro445=) c.5656T>A c.6114T>A (p.Pro2038=) c.704+334T>A (n.704+334T>A) c.3436T>A c.5838T>A (p.Pro1946=) c.5550T>A (p.Pro1850=) c.3078T>A (p.Pro1026=) | |
19 | g.35732663T>C | CA507308479 | KMT2B | n.420T>C c.6048T>C (p.Pro2016=) c.3655T>C (n.3655T>C) c.1332T>C (p.Pro444=) n.1267T>C c.1335T>C (p.Pro445=) c.5656T>C c.6114T>C (p.Pro2038=) c.704+334T>C (n.704+334T>C) c.3436T>C c.5838T>C (p.Pro1946=) c.5550T>C (p.Pro1850=) c.3078T>C (p.Pro1026=) | gnomAD v4 |
19 | g.35732663T>G | CA507308478 | KMT2B | n.420T>G c.6048T>G (p.Pro2016=) c.3655T>G (n.3655T>G) c.1332T>G (p.Pro444=) n.1267T>G c.1335T>G (p.Pro445=) c.5656T>G c.6114T>G (p.Pro2038=) c.704+334T>G (n.704+334T>G) c.3436T>G c.5838T>G (p.Pro1946=) c.5550T>G (p.Pro1850=) c.3078T>G (p.Pro1026=) | |
19 | g.35732664G>A | CA9385610 | KMT2B | n.421G>A c.6049G>A (p.Val2017Met) c.3656G>A (n.3656G>A) c.1333G>A (p.Val445Met) n.1268G>A c.1336G>A (p.Val446Met) c.5657G>A c.6115G>A (p.Val2039Met) c.704+335G>A (n.704+335G>A) c.3437G>A c.5839G>A (p.Val1947Met) c.5551G>A (p.Val1851Met) c.3079G>A (p.Val1027Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732664G>C | CA405425720 | KMT2B | n.421G>C c.6049G>C (p.Val2017Leu) c.3656G>C (n.3656G>C) c.1333G>C (p.Val445Leu) n.1268G>C c.1336G>C (p.Val446Leu) c.5657G>C c.6115G>C (p.Val2039Leu) c.704+335G>C (n.704+335G>C) c.3437G>C c.5839G>C (p.Val1947Leu) c.5551G>C (p.Val1851Leu) c.3079G>C (p.Val1027Leu) | |
19 | g.35732664G= | CA2333794431 | KMT2B | n.421G= c.6049G= (p.Val2017=) c.3656G= (n.3656G=) c.1333G= (p.Val445=) n.1268G= c.1336G= (p.Val446=) c.5657G= c.6115G= (p.Val2039=) c.704+335G= (n.704+335G=) c.3437G= c.5839G= (p.Val1947=) c.5551G= (p.Val1851=) c.3079G= (p.Val1027=) | |
19 | g.35732664G>T | CA405425722 | KMT2B | n.421G>T c.6049G>T (p.Val2017Leu) c.3656G>T (n.3656G>T) c.1333G>T (p.Val445Leu) n.1268G>T c.1336G>T (p.Val446Leu) c.5657G>T c.6115G>T (p.Val2039Leu) c.704+335G>T (n.704+335G>T) c.3437G>T c.5839G>T (p.Val1947Leu) c.5551G>T (p.Val1851Leu) c.3079G>T (p.Val1027Leu) | gnomAD v4 |
19 | g.35732665T>A | CA405425726 | KMT2B | n.422T>A c.6050T>A (p.Val2017Glu) c.3657T>A (n.3657T>A) c.1334T>A (p.Val445Glu) n.1269T>A c.1337T>A (p.Val446Glu) c.5658T>A c.6116T>A (p.Val2039Glu) c.704+336T>A (n.704+336T>A) c.3438T>A c.5840T>A (p.Val1947Glu) c.5552T>A (p.Val1851Glu) c.3080T>A (p.Val1027Glu) | |
19 | g.35732665T>C | CA405425727 | KMT2B | n.422T>C c.6050T>C (p.Val2017Ala) c.3657T>C (n.3657T>C) c.1334T>C (p.Val445Ala) n.1269T>C c.1337T>C (p.Val446Ala) c.5658T>C c.6116T>C (p.Val2039Ala) c.704+336T>C (n.704+336T>C) c.3438T>C c.5840T>C (p.Val1947Ala) c.5552T>C (p.Val1851Ala) c.3080T>C (p.Val1027Ala) | |
19 | g.35732665T>G | CA405425729 | KMT2B | n.422T>G c.6050T>G (p.Val2017Gly) c.3657T>G (n.3657T>G) c.1334T>G (p.Val445Gly) n.1269T>G c.1337T>G (p.Val446Gly) c.5658T>G c.6116T>G (p.Val2039Gly) c.704+336T>G (n.704+336T>G) c.3438T>G c.5840T>G (p.Val1947Gly) c.5552T>G (p.Val1851Gly) c.3080T>G (p.Val1027Gly) | |
19 | g.35732666G>A | CA507308489 | KMT2B | n.423G>A c.6051G>A (p.Val2017=) c.3658G>A (n.3658G>A) c.1335G>A (p.Val445=) n.1270G>A c.1338G>A (p.Val446=) c.5659G>A c.6117G>A (p.Val2039=) c.704+337G>A (n.704+337G>A) c.3439G>A c.5841G>A (p.Val1947=) c.5553G>A (p.Val1851=) c.3081G>A (p.Val1027=) | |
19 | g.35732666G>C | CA507308490 | KMT2B | n.423G>C c.6051G>C (p.Val2017=) c.3658G>C (n.3658G>C) c.1335G>C (p.Val445=) n.1270G>C c.1338G>C (p.Val446=) c.5659G>C c.6117G>C (p.Val2039=) c.704+337G>C (n.704+337G>C) c.3439G>C c.5841G>C (p.Val1947=) c.5553G>C (p.Val1851=) c.3081G>C (p.Val1027=) | |
19 | g.35732666G= | CA2333794432 | KMT2B | n.423G= c.6051G= (p.Val2017=) c.3658G= (n.3658G=) c.1335G= (p.Val445=) n.1270G= c.1338G= (p.Val446=) c.5659G= c.6117G= (p.Val2039=) c.704+337G= (n.704+337G=) c.3439G= c.5841G= (p.Val1947=) c.5553G= (p.Val1851=) c.3081G= (p.Val1027=) | |
19 | g.35732666G>T | CA507308491 | KMT2B | n.423G>T c.6051G>T (p.Val2017=) c.3658G>T (n.3658G>T) c.1335G>T (p.Val445=) n.1270G>T c.1338G>T (p.Val446=) c.5659G>T c.6117G>T (p.Val2039=) c.704+337G>T (n.704+337G>T) c.3439G>T c.5841G>T (p.Val1947=) c.5553G>T (p.Val1851=) c.3081G>T (p.Val1027=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35732667A= | CA2333794433 | KMT2B | n.424A= c.6052A= (p.Thr2018=) c.3659A= (n.3659A=) c.1336A= (p.Thr446=) n.1271A= c.1339A= (p.Thr447=) c.5660A= c.6118A= (p.Thr2040=) c.704+338A= (n.704+338A=) c.3440A= c.5842A= (p.Thr1948=) c.5554A= (p.Thr1852=) c.3082A= (p.Thr1028=) | |
19 | g.35732667A>C | CA405425735 | KMT2B | n.424A>C c.6052A>C (p.Thr2018Pro) c.3659A>C (n.3659A>C) c.1336A>C (p.Thr446Pro) n.1271A>C c.1339A>C (p.Thr447Pro) c.5660A>C c.6118A>C (p.Thr2040Pro) c.704+338A>C (n.704+338A>C) c.3440A>C c.5842A>C (p.Thr1948Pro) c.5554A>C (p.Thr1852Pro) c.3082A>C (p.Thr1028Pro) | |
19 | g.35732667A>G | CA405425737 | KMT2B | n.424A>G c.6052A>G (p.Thr2018Ala) c.3659A>G (n.3659A>G) c.1336A>G (p.Thr446Ala) n.1271A>G c.1339A>G (p.Thr447Ala) c.5660A>G c.6118A>G (p.Thr2040Ala) c.704+338A>G (n.704+338A>G) c.3440A>G c.5842A>G (p.Thr1948Ala) c.5554A>G (p.Thr1852Ala) c.3082A>G (p.Thr1028Ala) | dbSNP |
19 | g.35732667A>T | CA405425732 | KMT2B | n.424A>T c.6052A>T (p.Thr2018Ser) c.3659A>T (n.3659A>T) c.1336A>T (p.Thr446Ser) n.1271A>T c.1339A>T (p.Thr447Ser) c.5660A>T c.6118A>T (p.Thr2040Ser) c.704+338A>T (n.704+338A>T) c.3440A>T c.5842A>T (p.Thr1948Ser) c.5554A>T (p.Thr1852Ser) c.3082A>T (p.Thr1028Ser) | |
19 | g.35732668C>A | CA405425740 | KMT2B | n.425C>A c.6053C>A (p.Thr2018Asn) c.3660C>A (n.3660C>A) c.1337C>A (p.Thr446Asn) n.1272C>A c.1340C>A (p.Thr447Asn) c.5661C>A c.6119C>A (p.Thr2040Asn) c.704+339C>A (n.704+339C>A) c.3441C>A c.5843C>A (p.Thr1948Asn) c.5555C>A (p.Thr1852Asn) c.3083C>A (p.Thr1028Asn) | |
19 | g.35732668C= | CA2333794434 | KMT2B | n.425C= c.6053C= (p.Thr2018=) c.3660C= (n.3660C=) c.1337C= (p.Thr446=) n.1272C= c.1340C= (p.Thr447=) c.5661C= c.6119C= (p.Thr2040=) c.704+339C= (n.704+339C=) c.3441C= c.5843C= (p.Thr1948=) c.5555C= (p.Thr1852=) c.3083C= (p.Thr1028=) | |
19 | g.35732668C>G | CA405425742 | KMT2B | n.425C>G c.6053C>G (p.Thr2018Ser) c.3660C>G (n.3660C>G) c.1337C>G (p.Thr446Ser) n.1272C>G c.1340C>G (p.Thr447Ser) c.5661C>G c.6119C>G (p.Thr2040Ser) c.704+339C>G (n.704+339C>G) c.3441C>G c.5843C>G (p.Thr1948Ser) c.5555C>G (p.Thr1852Ser) c.3083C>G (p.Thr1028Ser) | |
19 | g.35732668C>T | CA405425744 | KMT2B | n.425C>T c.6053C>T (p.Thr2018Ile) c.3660C>T (n.3660C>T) c.1337C>T (p.Thr446Ile) n.1272C>T c.1340C>T (p.Thr447Ile) c.5661C>T c.6119C>T (p.Thr2040Ile) c.704+339C>T (n.704+339C>T) c.3441C>T c.5843C>T (p.Thr1948Ile) c.5555C>T (p.Thr1852Ile) c.3083C>T (p.Thr1028Ile) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732669T>A | CA507308495 | KMT2B | n.426T>A c.6054T>A (p.Thr2018=) c.3661T>A (n.3661T>A) c.1338T>A (p.Thr446=) n.1273T>A c.1341T>A (p.Thr447=) c.5662T>A c.6120T>A (p.Thr2040=) c.704+340T>A (n.704+340T>A) c.3442T>A c.5844T>A (p.Thr1948=) c.5556T>A (p.Thr1852=) c.3084T>A (p.Thr1028=) | dbSNP |
19 | g.35732669T>C | CA507308499 | KMT2B | n.426T>C c.6054T>C (p.Thr2018=) c.3661T>C (n.3661T>C) c.1338T>C (p.Thr446=) n.1273T>C c.1341T>C (p.Thr447=) c.5662T>C c.6120T>C (p.Thr2040=) c.704+340T>C (n.704+340T>C) c.3442T>C c.5844T>C (p.Thr1948=) c.5556T>C (p.Thr1852=) c.3084T>C (p.Thr1028=) | |
19 | g.35732669T>G | CA507308496 | KMT2B | n.426T>G c.6054T>G (p.Thr2018=) c.3661T>G (n.3661T>G) c.1338T>G (p.Thr446=) n.1273T>G c.1341T>G (p.Thr447=) c.5662T>G c.6120T>G (p.Thr2040=) c.704+340T>G (n.704+340T>G) c.3442T>G c.5844T>G (p.Thr1948=) c.5556T>G (p.Thr1852=) c.3084T>G (p.Thr1028=) | |
19 | g.35732669T= | CA2333794435 | KMT2B | n.426T= c.6054T= (p.Thr2018=) c.3661T= (n.3661T=) c.1338T= (p.Thr446=) n.1273T= c.1341T= (p.Thr447=) c.5662T= c.6120T= (p.Thr2040=) c.704+340T= (n.704+340T=) c.3442T= c.5844T= (p.Thr1948=) c.5556T= (p.Thr1852=) c.3084T= (p.Thr1028=) | |
19 | g.35732670G>A | CA405425747 | KMT2B | n.427G>A c.6055G>A (p.Val2019Met) c.3662G>A (n.3662G>A) c.1339G>A (p.Val447Met) n.1274G>A c.1342G>A (p.Val448Met) c.5663G>A c.6121G>A (p.Val2041Met) c.704+341G>A (n.704+341G>A) c.3443G>A c.5845G>A (p.Val1949Met) c.5557G>A (p.Val1853Met) c.3085G>A (p.Val1029Met) | |
19 | g.35732670G>C | CA405425749 | KMT2B | n.427G>C c.6055G>C (p.Val2019Leu) c.3662G>C (n.3662G>C) c.1339G>C (p.Val447Leu) n.1274G>C c.1342G>C (p.Val448Leu) c.5663G>C c.6121G>C (p.Val2041Leu) c.704+341G>C (n.704+341G>C) c.3443G>C c.5845G>C (p.Val1949Leu) c.5557G>C (p.Val1853Leu) c.3085G>C (p.Val1029Leu) | ClinVar dbSNP |
19 | g.35732670G>T | CA405425751 | KMT2B | n.427G>T c.6055G>T (p.Val2019Leu) c.3662G>T (n.3662G>T) c.1339G>T (p.Val447Leu) n.1274G>T c.1342G>T (p.Val448Leu) c.5663G>T c.6121G>T (p.Val2041Leu) c.704+341G>T (n.704+341G>T) c.3443G>T c.5845G>T (p.Val1949Leu) c.5557G>T (p.Val1853Leu) c.3085G>T (p.Val1029Leu) | |
19 | g.35732671T>A | CA405425754 | KMT2B | n.428T>A c.6056T>A (p.Val2019Glu) c.3663T>A (n.3663T>A) c.1340T>A (p.Val447Glu) n.1275T>A c.1343T>A (p.Val448Glu) c.5664T>A c.6122T>A (p.Val2041Glu) c.704+342T>A (n.704+342T>A) c.3444T>A c.5846T>A (p.Val1949Glu) c.5558T>A (p.Val1853Glu) c.3086T>A (p.Val1029Glu) | |
19 | g.35732671T>C | CA405425755 | KMT2B | n.428T>C c.6056T>C (p.Val2019Ala) c.3663T>C (n.3663T>C) c.1340T>C (p.Val447Ala) n.1275T>C c.1343T>C (p.Val448Ala) c.5664T>C c.6122T>C (p.Val2041Ala) c.704+342T>C (n.704+342T>C) c.3444T>C c.5846T>C (p.Val1949Ala) c.5558T>C (p.Val1853Ala) c.3086T>C (p.Val1029Ala) | |
19 | g.35732671T>G | CA405425757 | KMT2B | n.428T>G c.6056T>G (p.Val2019Gly) c.3663T>G (n.3663T>G) c.1340T>G (p.Val447Gly) n.1275T>G c.1343T>G (p.Val448Gly) c.5664T>G c.6122T>G (p.Val2041Gly) c.704+342T>G (n.704+342T>G) c.3444T>G c.5846T>G (p.Val1949Gly) c.5558T>G (p.Val1853Gly) c.3086T>G (p.Val1029Gly) | gnomAD v4 |
19 | g.35732672G>A | CA507308502 | KMT2B | n.429G>A c.6057G>A (p.Val2019=) c.3664G>A (n.3664G>A) c.1341G>A (p.Val447=) n.1276G>A c.1344G>A (p.Val448=) c.5665G>A c.6123G>A (p.Val2041=) c.704+343G>A (n.704+343G>A) c.3445G>A c.5847G>A (p.Val1949=) c.5559G>A (p.Val1853=) c.3087G>A (p.Val1029=) | gnomAD v4 |
19 | g.35732672G>C | CA507308504 | KMT2B | n.429G>C c.6057G>C (p.Val2019=) c.3664G>C (n.3664G>C) c.1341G>C (p.Val447=) n.1276G>C c.1344G>C (p.Val448=) c.5665G>C c.6123G>C (p.Val2041=) c.704+343G>C (n.704+343G>C) c.3445G>C c.5847G>C (p.Val1949=) c.5559G>C (p.Val1853=) c.3087G>C (p.Val1029=) | |
19 | g.35732672G>T | CA507308508 | KMT2B | n.429G>T c.6057G>T (p.Val2019=) c.3664G>T (n.3664G>T) c.1341G>T (p.Val447=) n.1276G>T c.1344G>T (p.Val448=) c.5665G>T c.6123G>T (p.Val2041=) c.704+343G>T (n.704+343G>T) c.3445G>T c.5847G>T (p.Val1949=) c.5559G>T (p.Val1853=) c.3087G>T (p.Val1029=) | |
19 | g.35732673G>A | CA405425761 | KMT2B | n.430G>A c.6058G>A (p.Val2020Met) c.3665G>A (n.3665G>A) c.1342G>A (p.Val448Met) n.1277G>A c.1345G>A (p.Val449Met) c.5666G>A c.6124G>A (p.Val2042Met) c.704+344G>A (n.704+344G>A) c.3446G>A c.5848G>A (p.Val1950Met) c.5560G>A (p.Val1854Met) c.3088G>A (p.Val1030Met) | gnomAD v4 |
19 | g.35732673G>C | CA405425762 | KMT2B | n.430G>C c.6058G>C (p.Val2020Leu) c.3665G>C (n.3665G>C) c.1342G>C (p.Val448Leu) n.1277G>C c.1345G>C (p.Val449Leu) c.5666G>C c.6124G>C (p.Val2042Leu) c.704+344G>C (n.704+344G>C) c.3446G>C c.5848G>C (p.Val1950Leu) c.5560G>C (p.Val1854Leu) c.3088G>C (p.Val1030Leu) | |
19 | g.35732673G= | CA2333794436 | KMT2B | n.430G= c.6058G= (p.Val2020=) c.3665G= (n.3665G=) c.1342G= (p.Val448=) n.1277G= c.1345G= (p.Val449=) c.5666G= c.6124G= (p.Val2042=) c.704+344G= (n.704+344G=) c.3446G= c.5848G= (p.Val1950=) c.5560G= (p.Val1854=) c.3088G= (p.Val1030=) | |
19 | g.35732673G>T | CA405425764 | KMT2B | n.430G>T c.6058G>T (p.Val2020Leu) c.3665G>T (n.3665G>T) c.1342G>T (p.Val448Leu) n.1277G>T c.1345G>T (p.Val449Leu) c.5666G>T c.6124G>T (p.Val2042Leu) c.704+344G>T (n.704+344G>T) c.3446G>T c.5848G>T (p.Val1950Leu) c.5560G>T (p.Val1854Leu) c.3088G>T (p.Val1030Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732674T>A | CA405425770 | KMT2B | n.431T>A c.6059T>A (p.Val2020Glu) c.3666T>A (n.3666T>A) c.1343T>A (p.Val448Glu) n.1278T>A c.1346T>A (p.Val449Glu) c.5667T>A c.6125T>A (p.Val2042Glu) c.704+345T>A (n.704+345T>A) c.3447T>A c.5849T>A (p.Val1950Glu) c.5561T>A (p.Val1854Glu) c.3089T>A (p.Val1030Glu) | |
19 | g.35732674T>C | CA307796290 | KMT2B | n.431T>C c.6059T>C (p.Val2020Ala) c.3666T>C (n.3666T>C) c.1343T>C (p.Val448Ala) n.1278T>C c.1346T>C (p.Val449Ala) c.5667T>C c.6125T>C (p.Val2042Ala) c.704+345T>C (n.704+345T>C) c.3447T>C c.5849T>C (p.Val1950Ala) c.5561T>C (p.Val1854Ala) c.3089T>C (p.Val1030Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732674T>G | CA405425768 | KMT2B | n.431T>G c.6059T>G (p.Val2020Gly) c.3666T>G (n.3666T>G) c.1343T>G (p.Val448Gly) n.1278T>G c.1346T>G (p.Val449Gly) c.5667T>G c.6125T>G (p.Val2042Gly) c.704+345T>G (n.704+345T>G) c.3447T>G c.5849T>G (p.Val1950Gly) c.5561T>G (p.Val1854Gly) c.3089T>G (p.Val1030Gly) | |
19 | g.35732674T= | CA2333794437 | KMT2B | n.431T= c.6059T= (p.Val2020=) c.3666T= (n.3666T=) c.1343T= (p.Val448=) n.1278T= c.1346T= (p.Val449=) c.5667T= c.6125T= (p.Val2042=) c.704+345T= (n.704+345T=) c.3447T= c.5849T= (p.Val1950=) c.5561T= (p.Val1854=) c.3089T= (p.Val1030=) | |
19 | g.35732675G>A | CA507308511 | KMT2B | n.432G>A c.6060G>A (p.Val2020=) c.3667G>A (n.3667G>A) c.1344G>A (p.Val448=) n.1279G>A c.1347G>A (p.Val449=) c.5668G>A c.6126G>A (p.Val2042=) c.704+346G>A (n.704+346G>A) c.3448G>A c.5850G>A (p.Val1950=) c.5562G>A (p.Val1854=) c.3090G>A (p.Val1030=) | gnomAD v4 |
19 | g.35732675G>C | CA507308515 | KMT2B | n.432G>C c.6060G>C (p.Val2020=) c.3667G>C (n.3667G>C) c.1344G>C (p.Val448=) n.1279G>C c.1347G>C (p.Val449=) c.5668G>C c.6126G>C (p.Val2042=) c.704+346G>C (n.704+346G>C) c.3448G>C c.5850G>C (p.Val1950=) c.5562G>C (p.Val1854=) c.3090G>C (p.Val1030=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732675G= | CA2333794438 | KMT2B | n.432G= c.6060G= (p.Val2020=) c.3667G= (n.3667G=) c.1344G= (p.Val448=) n.1279G= c.1347G= (p.Val449=) c.5668G= c.6126G= (p.Val2042=) c.704+346G= (n.704+346G=) c.3448G= c.5850G= (p.Val1950=) c.5562G= (p.Val1854=) c.3090G= (p.Val1030=) | |
19 | g.35732675G>T | CA507308513 | KMT2B | n.432G>T c.6060G>T (p.Val2020=) c.3667G>T (n.3667G>T) c.1344G>T (p.Val448=) n.1279G>T c.1347G>T (p.Val449=) c.5668G>T c.6126G>T (p.Val2042=) c.704+346G>T (n.704+346G>T) c.3448G>T c.5850G>T (p.Val1950=) c.5562G>T (p.Val1854=) c.3090G>T (p.Val1030=) | |
19 | g.35732676T>A | CA405425774 | KMT2B | n.433T>A c.6061T>A (p.Ser2021Thr) c.3668T>A (n.3668T>A) c.1345T>A (p.Ser449Thr) n.1280T>A c.1348T>A (p.Ser450Thr) c.5669T>A c.6127T>A (p.Ser2043Thr) c.704+347T>A (n.704+347T>A) c.3449T>A c.5851T>A (p.Ser1951Thr) c.5563T>A (p.Ser1855Thr) c.3091T>A (p.Ser1031Thr) | |
19 | g.35732676T>C | CA405425777 | KMT2B | n.433T>C c.6061T>C (p.Ser2021Pro) c.3668T>C (n.3668T>C) c.1345T>C (p.Ser449Pro) n.1280T>C c.1348T>C (p.Ser450Pro) c.5669T>C c.6127T>C (p.Ser2043Pro) c.704+347T>C (n.704+347T>C) c.3449T>C c.5851T>C (p.Ser1951Pro) c.5563T>C (p.Ser1855Pro) c.3091T>C (p.Ser1031Pro) | |
19 | g.35732676T>G | CA405425779 | KMT2B | n.433T>G c.6061T>G (p.Ser2021Ala) c.3668T>G (n.3668T>G) c.1345T>G (p.Ser449Ala) n.1280T>G c.1348T>G (p.Ser450Ala) c.5669T>G c.6127T>G (p.Ser2043Ala) c.704+347T>G (n.704+347T>G) c.3449T>G c.5851T>G (p.Ser1951Ala) c.5563T>G (p.Ser1855Ala) c.3091T>G (p.Ser1031Ala) | ClinVar gnomAD v4 |
19 | g.35732677C>A | CA405425782 | KMT2B | n.434C>A c.6062C>A (p.Ser2021Tyr) c.3669C>A (n.3669C>A) c.1346C>A (p.Ser449Tyr) n.1281C>A c.1349C>A (p.Ser450Tyr) c.5670C>A c.6128C>A (p.Ser2043Tyr) c.704+348C>A (n.704+348C>A) c.3450C>A c.5852C>A (p.Ser1951Tyr) c.5564C>A (p.Ser1855Tyr) c.3092C>A (p.Ser1031Tyr) | |
19 | g.35732677C>G | CA405425785 | KMT2B | n.434C>G c.6062C>G (p.Ser2021Cys) c.3669C>G (n.3669C>G) c.1346C>G (p.Ser449Cys) n.1281C>G c.1349C>G (p.Ser450Cys) c.5670C>G c.6128C>G (p.Ser2043Cys) c.704+348C>G (n.704+348C>G) c.3450C>G c.5852C>G (p.Ser1951Cys) c.5564C>G (p.Ser1855Cys) c.3092C>G (p.Ser1031Cys) | |
19 | g.35732677C>T | CA405425787 | KMT2B | n.434C>T c.6062C>T (p.Ser2021Phe) c.3669C>T (n.3669C>T) c.1346C>T (p.Ser449Phe) n.1281C>T c.1349C>T (p.Ser450Phe) c.5670C>T c.6128C>T (p.Ser2043Phe) c.704+348C>T (n.704+348C>T) c.3450C>T c.5852C>T (p.Ser1951Phe) c.5564C>T (p.Ser1855Phe) c.3092C>T (p.Ser1031Phe) | gnomAD v4 |
19 | g.35732678C>A | CA507308518 | KMT2B | n.435C>A c.6063C>A (p.Ser2021=) c.3670C>A (n.3670C>A) c.1347C>A (p.Ser449=) n.1282C>A c.1350C>A (p.Ser450=) c.5671C>A c.6129C>A (p.Ser2043=) c.704+349C>A (n.704+349C>A) c.3451C>A c.5853C>A (p.Ser1951=) c.5565C>A (p.Ser1855=) c.3093C>A (p.Ser1031=) | |
19 | g.35732678C= | CA2333794439 | KMT2B | n.435C= c.6063C= (p.Ser2021=) c.3670C= (n.3670C=) c.1347C= (p.Ser449=) n.1282C= c.1350C= (p.Ser450=) c.5671C= c.6129C= (p.Ser2043=) c.704+349C= (n.704+349C=) c.3451C= c.5853C= (p.Ser1951=) c.5565C= (p.Ser1855=) c.3093C= (p.Ser1031=) | |
19 | g.35732678C>G | CA507308520 | KMT2B | n.435C>G c.6063C>G (p.Ser2021=) c.3670C>G (n.3670C>G) c.1347C>G (p.Ser449=) n.1282C>G c.1350C>G (p.Ser450=) c.5671C>G c.6129C>G (p.Ser2043=) c.704+349C>G (n.704+349C>G) c.3451C>G c.5853C>G (p.Ser1951=) c.5565C>G (p.Ser1855=) c.3093C>G (p.Ser1031=) | |
19 | g.35732678C>T | CA9385611 | KMT2B | n.435C>T c.6063C>T (p.Ser2021=) c.3670C>T (n.3670C>T) c.1347C>T (p.Ser449=) n.1282C>T c.1350C>T (p.Ser450=) c.5671C>T c.6129C>T (p.Ser2043=) c.704+349C>T (n.704+349C>T) c.3451C>T c.5853C>T (p.Ser1951=) c.5565C>T (p.Ser1855=) c.3093C>T (p.Ser1031=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732679G>A | CA9385612 | KMT2B | n.436G>A c.6064G>A (p.Ala2022Thr) c.3671G>A (n.3671G>A) c.1348G>A (p.Ala450Thr) n.1283G>A c.1351G>A (p.Ala451Thr) c.5672G>A c.6130G>A (p.Ala2044Thr) c.704+350G>A (n.704+350G>A) c.3452G>A c.5854G>A (p.Ala1952Thr) c.5566G>A (p.Ala1856Thr) c.3094G>A (p.Ala1032Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732679G>C | CA405425794 | KMT2B | n.436G>C c.6064G>C (p.Ala2022Pro) c.3671G>C (n.3671G>C) c.1348G>C (p.Ala450Pro) n.1283G>C c.1351G>C (p.Ala451Pro) c.5672G>C c.6130G>C (p.Ala2044Pro) c.704+350G>C (n.704+350G>C) c.3452G>C c.5854G>C (p.Ala1952Pro) c.5566G>C (p.Ala1856Pro) c.3094G>C (p.Ala1032Pro) | |
19 | g.35732679G= | CA2333794441 | KMT2B | n.436G= c.6064G= (p.Ala2022=) c.3671G= (n.3671G=) c.1348G= (p.Ala450=) n.1283G= c.1351G= (p.Ala451=) c.5672G= c.6130G= (p.Ala2044=) c.704+350G= (n.704+350G=) c.3452G= c.5854G= (p.Ala1952=) c.5566G= (p.Ala1856=) c.3094G= (p.Ala1032=) | |
19 | g.35732679G>T | CA405425796 | KMT2B | n.436G>T c.6064G>T (p.Ala2022Ser) c.3671G>T (n.3671G>T) c.1348G>T (p.Ala450Ser) n.1283G>T c.1351G>T (p.Ala451Ser) c.5672G>T c.6130G>T (p.Ala2044Ser) c.704+350G>T (n.704+350G>T) c.3452G>T c.5854G>T (p.Ala1952Ser) c.5566G>T (p.Ala1856Ser) c.3094G>T (p.Ala1032Ser) | gnomAD v4 |
19 | g.35732679_35732702dup | CA2333794440 | KMT2B | n.436_459dup c.6064_6087dup (p.Ala2029_Thr2030insAlaProGlyLeuAlaProSerAla) c.3671_3694dup (n.3671_3694dup) c.1348_1371dup (p.Ala457_Thr458insAlaProGlyLeuAlaProSerAla) n.1283_1306dup c.1351_1374dup (p.Ala458_Thr459insAlaProGlyLeuAlaProSerAla) c.5672_5695dup c.6130_6153dup (p.Ala2051_Thr2052insAlaProGlyLeuAlaProSerAla) c.704+350_704+373dup (n.704+350_704+373dup) c.3452_3475dup c.5854_5877dup (p.Ala1959_Thr1960insAlaProGlyLeuAlaProSerAla) c.5566_5589dup (p.Ala1863_Thr1864insAlaProGlyLeuAlaProSerAla) c.3094_3117dup (p.Ala1039_Thr1040insAlaProGlyLeuAlaProSerAla) | dbSNP |
19 | g.35732680C>A | CA405425799 | KMT2B | n.437C>A c.6065C>A (p.Ala2022Asp) c.3672C>A (n.3672C>A) c.1349C>A (p.Ala450Asp) n.1284C>A c.1352C>A (p.Ala451Asp) c.5673C>A c.6131C>A (p.Ala2044Asp) c.704+351C>A (n.704+351C>A) c.3453C>A c.5855C>A (p.Ala1952Asp) c.5567C>A (p.Ala1856Asp) c.3095C>A (p.Ala1032Asp) | |
19 | g.35732680C>G | CA405425800 | KMT2B | n.437C>G c.6065C>G (p.Ala2022Gly) c.3672C>G (n.3672C>G) c.1349C>G (p.Ala450Gly) n.1284C>G c.1352C>G (p.Ala451Gly) c.5673C>G c.6131C>G (p.Ala2044Gly) c.704+351C>G (n.704+351C>G) c.3453C>G c.5855C>G (p.Ala1952Gly) c.5567C>G (p.Ala1856Gly) c.3095C>G (p.Ala1032Gly) | |
19 | g.35732680C>T | CA405425802 | KMT2B | n.437C>T c.6065C>T (p.Ala2022Val) c.3672C>T (n.3672C>T) c.1349C>T (p.Ala450Val) n.1284C>T c.1352C>T (p.Ala451Val) c.5673C>T c.6131C>T (p.Ala2044Val) c.704+351C>T (n.704+351C>T) c.3453C>T c.5855C>T (p.Ala1952Val) c.5567C>T (p.Ala1856Val) c.3095C>T (p.Ala1032Val) | ClinVar |
19 | g.35732681C>A | CA507308529 | KMT2B | n.438C>A c.6066C>A (p.Ala2022=) c.3673C>A (n.3673C>A) c.1350C>A (p.Ala450=) n.1285C>A c.1353C>A (p.Ala451=) c.5674C>A c.6132C>A (p.Ala2044=) c.704+352C>A (n.704+352C>A) c.3454C>A c.5856C>A (p.Ala1952=) c.5568C>A (p.Ala1856=) c.3096C>A (p.Ala1032=) | |
19 | g.35732681C= | CA2333794442 | KMT2B | n.438C= c.6066C= (p.Ala2022=) c.3673C= (n.3673C=) c.1350C= (p.Ala450=) n.1285C= c.1353C= (p.Ala451=) c.5674C= c.6132C= (p.Ala2044=) c.704+352C= (n.704+352C=) c.3454C= c.5856C= (p.Ala1952=) c.5568C= (p.Ala1856=) c.3096C= (p.Ala1032=) | |
19 | g.35732681C>G | CA507308531 | KMT2B | n.438C>G c.6066C>G (p.Ala2022=) c.3673C>G (n.3673C>G) c.1350C>G (p.Ala450=) n.1285C>G c.1353C>G (p.Ala451=) c.5674C>G c.6132C>G (p.Ala2044=) c.704+352C>G (n.704+352C>G) c.3454C>G c.5856C>G (p.Ala1952=) c.5568C>G (p.Ala1856=) c.3096C>G (p.Ala1032=) | |
19 | g.35732681C>T | CA507308533 | KMT2B | n.438C>T c.6066C>T (p.Ala2022=) c.3673C>T (n.3673C>T) c.1350C>T (p.Ala450=) n.1285C>T c.1353C>T (p.Ala451=) c.5674C>T c.6132C>T (p.Ala2044=) c.704+352C>T (n.704+352C>T) c.3454C>T c.5856C>T (p.Ala1952=) c.5568C>T (p.Ala1856=) c.3096C>T (p.Ala1032=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732682C>A | CA405425807 | KMT2B | n.439C>A c.6067C>A (p.Pro2023Thr) c.3674C>A (n.3674C>A) c.1351C>A (p.Pro451Thr) n.1286C>A c.1354C>A (p.Pro452Thr) c.5675C>A c.6133C>A (p.Pro2045Thr) c.704+353C>A (n.704+353C>A) c.3455C>A c.5857C>A (p.Pro1953Thr) c.5569C>A (p.Pro1857Thr) c.3097C>A (p.Pro1033Thr) | gnomAD v4 |
19 | g.35732682C= | CA2333794443 | KMT2B | n.439C= c.6067C= (p.Pro2023=) c.3674C= (n.3674C=) c.1351C= (p.Pro451=) n.1286C= c.1354C= (p.Pro452=) c.5675C= c.6133C= (p.Pro2045=) c.704+353C= (n.704+353C=) c.3455C= c.5857C= (p.Pro1953=) c.5569C= (p.Pro1857=) c.3097C= (p.Pro1033=) | |
19 | g.35732682C>G | CA405425806 | KMT2B | n.439C>G c.6067C>G (p.Pro2023Ala) c.3674C>G (n.3674C>G) c.1351C>G (p.Pro451Ala) n.1286C>G c.1354C>G (p.Pro452Ala) c.5675C>G c.6133C>G (p.Pro2045Ala) c.704+353C>G (n.704+353C>G) c.3455C>G c.5857C>G (p.Pro1953Ala) c.5569C>G (p.Pro1857Ala) c.3097C>G (p.Pro1033Ala) | |
19 | g.35732682C>T | CA405425804 | KMT2B | n.439C>T c.6067C>T (p.Pro2023Ser) c.3674C>T (n.3674C>T) c.1351C>T (p.Pro451Ser) n.1286C>T c.1354C>T (p.Pro452Ser) c.5675C>T c.6133C>T (p.Pro2045Ser) c.704+353C>T (n.704+353C>T) c.3455C>T c.5857C>T (p.Pro1953Ser) c.5569C>T (p.Pro1857Ser) c.3097C>T (p.Pro1033Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35732683C>A | CA405425811 | KMT2B | n.440C>A c.6068C>A (p.Pro2023His) c.3675C>A (n.3675C>A) c.1352C>A (p.Pro451His) n.1287C>A c.1355C>A (p.Pro452His) c.5676C>A c.6134C>A (p.Pro2045His) c.704+354C>A (n.704+354C>A) c.3456C>A c.5858C>A (p.Pro1953His) c.5570C>A (p.Pro1857His) c.3098C>A (p.Pro1033His) | |
19 | g.35732683C>G | CA405425815 | KMT2B | n.440C>G c.6068C>G (p.Pro2023Arg) c.3675C>G (n.3675C>G) c.1352C>G (p.Pro451Arg) n.1287C>G c.1355C>G (p.Pro452Arg) c.5676C>G c.6134C>G (p.Pro2045Arg) c.704+354C>G (n.704+354C>G) c.3456C>G c.5858C>G (p.Pro1953Arg) c.5570C>G (p.Pro1857Arg) c.3098C>G (p.Pro1033Arg) | |
19 | g.35732683C>T | CA405425813 | KMT2B | n.440C>T c.6068C>T (p.Pro2023Leu) c.3675C>T (n.3675C>T) c.1352C>T (p.Pro451Leu) n.1287C>T c.1355C>T (p.Pro452Leu) c.5676C>T c.6134C>T (p.Pro2045Leu) c.704+354C>T (n.704+354C>T) c.3456C>T c.5858C>T (p.Pro1953Leu) c.5570C>T (p.Pro1857Leu) c.3098C>T (p.Pro1033Leu) | |
19 | g.35732684T>A | CA507308538 | KMT2B | n.441T>A c.6069T>A (p.Pro2023=) c.3676T>A (n.3676T>A) c.1353T>A (p.Pro451=) n.1288T>A c.1356T>A (p.Pro452=) c.5677T>A c.6135T>A (p.Pro2045=) c.704+355T>A (n.704+355T>A) c.3457T>A c.5859T>A (p.Pro1953=) c.5571T>A (p.Pro1857=) c.3099T>A (p.Pro1033=) | |
19 | g.35732684T>C | CA507308535 | KMT2B | n.441T>C c.6069T>C (p.Pro2023=) c.3676T>C (n.3676T>C) c.1353T>C (p.Pro451=) n.1288T>C c.1356T>C (p.Pro452=) c.5677T>C c.6135T>C (p.Pro2045=) c.704+355T>C (n.704+355T>C) c.3457T>C c.5859T>C (p.Pro1953=) c.5571T>C (p.Pro1857=) c.3099T>C (p.Pro1033=) | |
19 | g.35732684T>G | CA507308536 | KMT2B | n.441T>G c.6069T>G (p.Pro2023=) c.3676T>G (n.3676T>G) c.1353T>G (p.Pro451=) n.1288T>G c.1356T>G (p.Pro452=) c.5677T>G c.6135T>G (p.Pro2045=) c.704+355T>G (n.704+355T>G) c.3457T>G c.5859T>G (p.Pro1953=) c.5571T>G (p.Pro1857=) c.3099T>G (p.Pro1033=) | gnomAD v4 |
19 | g.35732685G>A | CA405425817 | KMT2B | n.442G>A c.6070G>A (p.Gly2024Ser) c.3677G>A (n.3677G>A) c.1354G>A (p.Gly452Ser) n.1289G>A c.1357G>A (p.Gly453Ser) c.5678G>A c.6136G>A (p.Gly2046Ser) c.704+356G>A (n.704+356G>A) c.3458G>A c.5860G>A (p.Gly1954Ser) c.5572G>A (p.Gly1858Ser) c.3100G>A (p.Gly1034Ser) | |
19 | g.35732685G>C | CA405425822 | KMT2B | n.442G>C c.6070G>C (p.Gly2024Arg) c.3677G>C (n.3677G>C) c.1354G>C (p.Gly452Arg) n.1289G>C c.1357G>C (p.Gly453Arg) c.5678G>C c.6136G>C (p.Gly2046Arg) c.704+356G>C (n.704+356G>C) c.3458G>C c.5860G>C (p.Gly1954Arg) c.5572G>C (p.Gly1858Arg) c.3100G>C (p.Gly1034Arg) | gnomAD v4 |
19 | g.35732685G>T | CA405425819 | KMT2B | n.442G>T c.6070G>T (p.Gly2024Cys) c.3677G>T (n.3677G>T) c.1354G>T (p.Gly452Cys) n.1289G>T c.1357G>T (p.Gly453Cys) c.5678G>T c.6136G>T (p.Gly2046Cys) c.704+356G>T (n.704+356G>T) c.3458G>T c.5860G>T (p.Gly1954Cys) c.5572G>T (p.Gly1858Cys) c.3100G>T (p.Gly1034Cys) | gnomAD v4 |
19 | g.35732686G>A | CA405425824 | KMT2B | n.443G>A c.6071G>A (p.Gly2024Asp) c.3678G>A (n.3678G>A) c.1355G>A (p.Gly452Asp) n.1290G>A c.1358G>A (p.Gly453Asp) c.5679G>A c.6137G>A (p.Gly2046Asp) c.704+357G>A (n.704+357G>A) c.3459G>A c.5861G>A (p.Gly1954Asp) c.5573G>A (p.Gly1858Asp) c.3101G>A (p.Gly1034Asp) | gnomAD v4 |
19 | g.35732686G>C | CA405425825 | KMT2B | n.443G>C c.6071G>C (p.Gly2024Ala) c.3678G>C (n.3678G>C) c.1355G>C (p.Gly452Ala) n.1290G>C c.1358G>C (p.Gly453Ala) c.5679G>C c.6137G>C (p.Gly2046Ala) c.704+357G>C (n.704+357G>C) c.3459G>C c.5861G>C (p.Gly1954Ala) c.5573G>C (p.Gly1858Ala) c.3101G>C (p.Gly1034Ala) | gnomAD v4 |
19 | g.35732686G= | CA2333794444 | KMT2B | n.443G= c.6071G= (p.Gly2024=) c.3678G= (n.3678G=) c.1355G= (p.Gly452=) n.1290G= c.1358G= (p.Gly453=) c.5679G= c.6137G= (p.Gly2046=) c.704+357G= (n.704+357G=) c.3459G= c.5861G= (p.Gly1954=) c.5573G= (p.Gly1858=) c.3101G= (p.Gly1034=) | |
19 | g.35732686G>T | CA405425827 | KMT2B | n.443G>T c.6071G>T (p.Gly2024Val) c.3678G>T (n.3678G>T) c.1355G>T (p.Gly452Val) n.1290G>T c.1358G>T (p.Gly453Val) c.5679G>T c.6137G>T (p.Gly2046Val) c.704+357G>T (n.704+357G>T) c.3459G>T c.5861G>T (p.Gly1954Val) c.5573G>T (p.Gly1858Val) c.3101G>T (p.Gly1034Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732687T>A | CA507308546 | KMT2B | n.444T>A c.6072T>A (p.Gly2024=) c.3679T>A (n.3679T>A) c.1356T>A (p.Gly452=) n.1291T>A c.1359T>A (p.Gly453=) c.5680T>A c.6138T>A (p.Gly2046=) c.704+358T>A (n.704+358T>A) c.3460T>A c.5862T>A (p.Gly1954=) c.5574T>A (p.Gly1858=) c.3102T>A (p.Gly1034=) | |
19 | g.35732687T>C | CA507308548 | KMT2B | n.444T>C c.6072T>C (p.Gly2024=) c.3679T>C (n.3679T>C) c.1356T>C (p.Gly452=) n.1291T>C c.1359T>C (p.Gly453=) c.5680T>C c.6138T>C (p.Gly2046=) c.704+358T>C (n.704+358T>C) c.3460T>C c.5862T>C (p.Gly1954=) c.5574T>C (p.Gly1858=) c.3102T>C (p.Gly1034=) | dbSNP gnomAD v4 |
19 | g.35732687T>G | CA507308549 | KMT2B | n.444T>G c.6072T>G (p.Gly2024=) c.3679T>G (n.3679T>G) c.1356T>G (p.Gly452=) n.1291T>G c.1359T>G (p.Gly453=) c.5680T>G c.6138T>G (p.Gly2046=) c.704+358T>G (n.704+358T>G) c.3460T>G c.5862T>G (p.Gly1954=) c.5574T>G (p.Gly1858=) c.3102T>G (p.Gly1034=) | |
19 | g.35732687T= | CA2333794445 | KMT2B | n.444T= c.6072T= (p.Gly2024=) c.3679T= (n.3679T=) c.1356T= (p.Gly452=) n.1291T= c.1359T= (p.Gly453=) c.5680T= c.6138T= (p.Gly2046=) c.704+358T= (n.704+358T=) c.3460T= c.5862T= (p.Gly1954=) c.5574T= (p.Gly1858=) c.3102T= (p.Gly1034=) | |
19 | g.35732688C>A | CA405425830 | KMT2B | n.445C>A c.6073C>A (p.Leu2025Met) c.3680C>A (n.3680C>A) c.1357C>A (p.Leu453Met) n.1292C>A c.1360C>A (p.Leu454Met) c.5681C>A c.6139C>A (p.Leu2047Met) c.704+359C>A (n.704+359C>A) c.3461C>A c.5863C>A (p.Leu1955Met) c.5575C>A (p.Leu1859Met) c.3103C>A (p.Leu1035Met) | |
19 | g.35732688C= | CA2333794446 | KMT2B | n.445C= c.6073C= (p.Leu2025=) c.3680C= (n.3680C=) c.1357C= (p.Leu453=) n.1292C= c.1360C= (p.Leu454=) c.5681C= c.6139C= (p.Leu2047=) c.704+359C= (n.704+359C=) c.3461C= c.5863C= (p.Leu1955=) c.5575C= (p.Leu1859=) c.3103C= (p.Leu1035=) | |
19 | g.35732688C>G | CA405425831 | KMT2B | n.445C>G c.6073C>G (p.Leu2025Val) c.3680C>G (n.3680C>G) c.1357C>G (p.Leu453Val) n.1292C>G c.1360C>G (p.Leu454Val) c.5681C>G c.6139C>G (p.Leu2047Val) c.704+359C>G (n.704+359C>G) c.3461C>G c.5863C>G (p.Leu1955Val) c.5575C>G (p.Leu1859Val) c.3103C>G (p.Leu1035Val) | |
19 | g.35732688C>T | CA507308550 | KMT2B | n.445C>T c.6073C>T (p.Leu2025=) c.3680C>T (n.3680C>T) c.1357C>T (p.Leu453=) n.1292C>T c.1360C>T (p.Leu454=) c.5681C>T c.6139C>T (p.Leu2047=) c.704+359C>T (n.704+359C>T) c.3461C>T c.5863C>T (p.Leu1955=) c.5575C>T (p.Leu1859=) c.3103C>T (p.Leu1035=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732689T>A | CA405425834 | KMT2B | n.446T>A c.6074T>A (p.Leu2025Gln) c.3681T>A (n.3681T>A) c.1358T>A (p.Leu453Gln) n.1293T>A c.1361T>A (p.Leu454Gln) c.5682T>A c.6140T>A (p.Leu2047Gln) c.704+360T>A (n.704+360T>A) c.3462T>A c.5864T>A (p.Leu1955Gln) c.5576T>A (p.Leu1859Gln) c.3104T>A (p.Leu1035Gln) | |
19 | g.35732689T>C | CA405425836 | KMT2B | n.446T>C c.6074T>C (p.Leu2025Pro) c.3681T>C (n.3681T>C) c.1358T>C (p.Leu453Pro) n.1293T>C c.1361T>C (p.Leu454Pro) c.5682T>C c.6140T>C (p.Leu2047Pro) c.704+360T>C (n.704+360T>C) c.3462T>C c.5864T>C (p.Leu1955Pro) c.5576T>C (p.Leu1859Pro) c.3104T>C (p.Leu1035Pro) | gnomAD v4 |
19 | g.35732689T>G | CA405425838 | KMT2B | n.446T>G c.6074T>G (p.Leu2025Arg) c.3681T>G (n.3681T>G) c.1358T>G (p.Leu453Arg) n.1293T>G c.1361T>G (p.Leu454Arg) c.5682T>G c.6140T>G (p.Leu2047Arg) c.704+360T>G (n.704+360T>G) c.3462T>G c.5864T>G (p.Leu1955Arg) c.5576T>G (p.Leu1859Arg) c.3104T>G (p.Leu1035Arg) | |
19 | g.35732690G>A | CA507308551 | KMT2B | n.447G>A c.6075G>A (p.Leu2025=) c.3682G>A (n.3682G>A) c.1359G>A (p.Leu453=) n.1294G>A c.1362G>A (p.Leu454=) c.5683G>A c.6141G>A (p.Leu2047=) c.704+361G>A (n.704+361G>A) c.3463G>A c.5865G>A (p.Leu1955=) c.5577G>A (p.Leu1859=) c.3105G>A (p.Leu1035=) | |
19 | g.35732690G>C | CA507308552 | KMT2B | n.447G>C c.6075G>C (p.Leu2025=) c.3682G>C (n.3682G>C) c.1359G>C (p.Leu453=) n.1294G>C c.1362G>C (p.Leu454=) c.5683G>C c.6141G>C (p.Leu2047=) c.704+361G>C (n.704+361G>C) c.3463G>C c.5865G>C (p.Leu1955=) c.5577G>C (p.Leu1859=) c.3105G>C (p.Leu1035=) | |
19 | g.35732690G>T | CA507308553 | KMT2B | n.447G>T c.6075G>T (p.Leu2025=) c.3682G>T (n.3682G>T) c.1359G>T (p.Leu453=) n.1294G>T c.1362G>T (p.Leu454=) c.5683G>T c.6141G>T (p.Leu2047=) c.704+361G>T (n.704+361G>T) c.3463G>T c.5865G>T (p.Leu1955=) c.5577G>T (p.Leu1859=) c.3105G>T (p.Leu1035=) | |
19 | g.35732691G>A | CA405425841 | KMT2B | n.448G>A c.6076G>A (p.Ala2026Thr) c.3683G>A (n.3683G>A) c.1360G>A (p.Ala454Thr) n.1295G>A c.1363G>A (p.Ala455Thr) c.5684G>A c.6142G>A (p.Ala2048Thr) c.704+362G>A (n.704+362G>A) c.3464G>A c.5866G>A (p.Ala1956Thr) c.5578G>A (p.Ala1860Thr) c.3106G>A (p.Ala1036Thr) | |
19 | g.35732691G>C | CA405425843 | KMT2B | n.448G>C c.6076G>C (p.Ala2026Pro) c.3683G>C (n.3683G>C) c.1360G>C (p.Ala454Pro) n.1295G>C c.1363G>C (p.Ala455Pro) c.5684G>C c.6142G>C (p.Ala2048Pro) c.704+362G>C (n.704+362G>C) c.3464G>C c.5866G>C (p.Ala1956Pro) c.5578G>C (p.Ala1860Pro) c.3106G>C (p.Ala1036Pro) | |
19 | g.35732691G= | CA2333794447 | KMT2B | n.448G= c.6076G= (p.Ala2026=) c.3683G= (n.3683G=) c.1360G= (p.Ala454=) n.1295G= c.1363G= (p.Ala455=) c.5684G= c.6142G= (p.Ala2048=) c.704+362G= (n.704+362G=) c.3464G= c.5866G= (p.Ala1956=) c.5578G= (p.Ala1860=) c.3106G= (p.Ala1036=) | |
19 | g.35732691G>T | CA9385613 | KMT2B | n.448G>T c.6076G>T (p.Ala2026Ser) c.3683G>T (n.3683G>T) c.1360G>T (p.Ala454Ser) n.1295G>T c.1363G>T (p.Ala455Ser) c.5684G>T c.6142G>T (p.Ala2048Ser) c.704+362G>T (n.704+362G>T) c.3464G>T c.5866G>T (p.Ala1956Ser) c.5578G>T (p.Ala1860Ser) c.3106G>T (p.Ala1036Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732692C>A | CA405425850 | KMT2B | n.449C>A c.6077C>A (p.Ala2026Asp) c.3684C>A (n.3684C>A) c.1361C>A (p.Ala454Asp) n.1296C>A c.1364C>A (p.Ala455Asp) c.5685C>A c.6143C>A (p.Ala2048Asp) c.704+363C>A (n.704+363C>A) c.3465C>A c.5867C>A (p.Ala1956Asp) c.5579C>A (p.Ala1860Asp) c.3107C>A (p.Ala1036Asp) | dbSNP |
19 | g.35732692C= | CA2333794448 | KMT2B | n.449C= c.6077C= (p.Ala2026=) c.3684C= (n.3684C=) c.1361C= (p.Ala454=) n.1296C= c.1364C= (p.Ala455=) c.5685C= c.6143C= (p.Ala2048=) c.704+363C= (n.704+363C=) c.3465C= c.5867C= (p.Ala1956=) c.5579C= (p.Ala1860=) c.3107C= (p.Ala1036=) | |
19 | g.35732692C>G | CA405425847 | KMT2B | n.449C>G c.6077C>G (p.Ala2026Gly) c.3684C>G (n.3684C>G) c.1361C>G (p.Ala454Gly) n.1296C>G c.1364C>G (p.Ala455Gly) c.5685C>G c.6143C>G (p.Ala2048Gly) c.704+363C>G (n.704+363C>G) c.3465C>G c.5867C>G (p.Ala1956Gly) c.5579C>G (p.Ala1860Gly) c.3107C>G (p.Ala1036Gly) | |
19 | g.35732692C>T | CA405425849 | KMT2B | n.449C>T c.6077C>T (p.Ala2026Val) c.3684C>T (n.3684C>T) c.1361C>T (p.Ala454Val) n.1296C>T c.1364C>T (p.Ala455Val) c.5685C>T c.6143C>T (p.Ala2048Val) c.704+363C>T (n.704+363C>T) c.3465C>T c.5867C>T (p.Ala1956Val) c.5579C>T (p.Ala1860Val) c.3107C>T (p.Ala1036Val) | dbSNP gnomAD v4 |
19 | g.35732696del | CA2584575159 | KMT2B | n.453del c.6081del (p.Ser2028AlafsTer?) c.3688del (n.3688del) c.1365del (p.Ser456AlafsTer?) n.1300del c.1368del (p.Ser457AlafsTer?) c.5689del c.6147del (p.Ser2050AlafsTer?) c.704+367del (n.704+367del) c.3469del c.5871del (p.Ser1958AlafsTer?) c.5583del (p.Ser1862AlafsTer?) c.3111del (p.Ser1038AlafsTer?) | gnomAD v4 |
19 | g.35732693C>A | CA507308558 | KMT2B | n.450C>A c.6078C>A (p.Ala2026=) c.3685C>A (n.3685C>A) c.1362C>A (p.Ala454=) n.1297C>A c.1365C>A (p.Ala455=) c.5686C>A c.6144C>A (p.Ala2048=) c.704+364C>A (n.704+364C>A) c.3466C>A c.5868C>A (p.Ala1956=) c.5580C>A (p.Ala1860=) c.3108C>A (p.Ala1036=) | |
19 | g.35732693C= | CA2333794449 | KMT2B | n.450C= c.6078C= (p.Ala2026=) c.3685C= (n.3685C=) c.1362C= (p.Ala454=) n.1297C= c.1365C= (p.Ala455=) c.5686C= c.6144C= (p.Ala2048=) c.704+364C= (n.704+364C=) c.3466C= c.5868C= (p.Ala1956=) c.5580C= (p.Ala1860=) c.3108C= (p.Ala1036=) | |
19 | g.35732693C>G | CA507308559 | KMT2B | n.450C>G c.6078C>G (p.Ala2026=) c.3685C>G (n.3685C>G) c.1362C>G (p.Ala454=) n.1297C>G c.1365C>G (p.Ala455=) c.5686C>G c.6144C>G (p.Ala2048=) c.704+364C>G (n.704+364C>G) c.3466C>G c.5868C>G (p.Ala1956=) c.5580C>G (p.Ala1860=) c.3108C>G (p.Ala1036=) | |
19 | g.35732693C>T | CA9385614 | KMT2B | n.450C>T c.6078C>T (p.Ala2026=) c.3685C>T (n.3685C>T) c.1362C>T (p.Ala454=) n.1297C>T c.1365C>T (p.Ala455=) c.5686C>T c.6144C>T (p.Ala2048=) c.704+364C>T (n.704+364C>T) c.3466C>T c.5868C>T (p.Ala1956=) c.5580C>T (p.Ala1860=) c.3108C>T (p.Ala1036=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732694C>A | CA405425854 | KMT2B | n.451C>A c.6079C>A (p.Pro2027Thr) c.3686C>A (n.3686C>A) c.1363C>A (p.Pro455Thr) n.1298C>A c.1366C>A (p.Pro456Thr) c.5687C>A c.6145C>A (p.Pro2049Thr) c.704+365C>A (n.704+365C>A) c.3467C>A c.5869C>A (p.Pro1957Thr) c.5581C>A (p.Pro1861Thr) c.3109C>A (p.Pro1037Thr) | |
19 | g.35732694C= | CA2333794450 | KMT2B | n.451C= c.6079C= (p.Pro2027=) c.3686C= (n.3686C=) c.1363C= (p.Pro455=) n.1298C= c.1366C= (p.Pro456=) c.5687C= c.6145C= (p.Pro2049=) c.704+365C= (n.704+365C=) c.3467C= c.5869C= (p.Pro1957=) c.5581C= (p.Pro1861=) c.3109C= (p.Pro1037=) | |
19 | g.35732694C>G | CA405425856 | KMT2B | n.451C>G c.6079C>G (p.Pro2027Ala) c.3686C>G (n.3686C>G) c.1363C>G (p.Pro455Ala) n.1298C>G c.1366C>G (p.Pro456Ala) c.5687C>G c.6145C>G (p.Pro2049Ala) c.704+365C>G (n.704+365C>G) c.3467C>G c.5869C>G (p.Pro1957Ala) c.5581C>G (p.Pro1861Ala) c.3109C>G (p.Pro1037Ala) | |
19 | g.35732694C>T | CA9385615 | KMT2B | n.451C>T c.6079C>T (p.Pro2027Ser) c.3686C>T (n.3686C>T) c.1363C>T (p.Pro455Ser) n.1298C>T c.1366C>T (p.Pro456Ser) c.5687C>T c.6145C>T (p.Pro2049Ser) c.704+365C>T (n.704+365C>T) c.3467C>T c.5869C>T (p.Pro1957Ser) c.5581C>T (p.Pro1861Ser) c.3109C>T (p.Pro1037Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732695C>A | CA405425860 | KMT2B | n.452C>A c.6080C>A (p.Pro2027His) c.3687C>A (n.3687C>A) c.1364C>A (p.Pro455His) n.1299C>A c.1367C>A (p.Pro456His) c.5688C>A c.6146C>A (p.Pro2049His) c.704+366C>A (n.704+366C>A) c.3468C>A c.5870C>A (p.Pro1957His) c.5582C>A (p.Pro1861His) c.3110C>A (p.Pro1037His) | |
19 | g.35732695C= | CA2333794451 | KMT2B | n.452C= c.6080C= (p.Pro2027=) c.3687C= (n.3687C=) c.1364C= (p.Pro455=) n.1299C= c.1367C= (p.Pro456=) c.5688C= c.6146C= (p.Pro2049=) c.704+366C= (n.704+366C=) c.3468C= c.5870C= (p.Pro1957=) c.5582C= (p.Pro1861=) c.3110C= (p.Pro1037=) | |
19 | g.35732695C>G | CA405425862 | KMT2B | n.452C>G c.6080C>G (p.Pro2027Arg) c.3687C>G (n.3687C>G) c.1364C>G (p.Pro455Arg) n.1299C>G c.1367C>G (p.Pro456Arg) c.5688C>G c.6146C>G (p.Pro2049Arg) c.704+366C>G (n.704+366C>G) c.3468C>G c.5870C>G (p.Pro1957Arg) c.5582C>G (p.Pro1861Arg) c.3110C>G (p.Pro1037Arg) | dbSNP |
19 | g.35732695C>T | CA405425864 | KMT2B | n.452C>T c.6080C>T (p.Pro2027Leu) c.3687C>T (n.3687C>T) c.1364C>T (p.Pro455Leu) n.1299C>T c.1367C>T (p.Pro456Leu) c.5688C>T c.6146C>T (p.Pro2049Leu) c.704+366C>T (n.704+366C>T) c.3468C>T c.5870C>T (p.Pro1957Leu) c.5582C>T (p.Pro1861Leu) c.3110C>T (p.Pro1037Leu) | dbSNP gnomAD v2 |
19 | g.35732695_35732696insTG | CA2333794452 | KMT2B | n.452_453insTG c.6080_6081insTG (p.Ser2028AlafsTer?) c.3687_3688insTG (n.3687_3688insTG) c.1364_1365insTG (p.Ser456AlafsTer?) n.1299_1300insTG c.1367_1368insTG (p.Ser457AlafsTer?) c.5688_5689insTG c.6146_6147insTG (p.Ser2050AlafsTer?) c.704+366_704+367insTG (n.704+366_704+367insTG) c.3468_3469insTG c.5870_5871insTG (p.Ser1958AlafsTer?) c.5582_5583insTG (p.Ser1862AlafsTer?) c.3110_3111insTG (p.Ser1038AlafsTer?) | dbSNP |
19 | g.35732696C>A | CA507308566 | KMT2B | n.453C>A c.6081C>A (p.Pro2027=) c.3688C>A (n.3688C>A) c.1365C>A (p.Pro455=) n.1300C>A c.1368C>A (p.Pro456=) c.5689C>A c.6147C>A (p.Pro2049=) c.704+367C>A (n.704+367C>A) c.3469C>A c.5871C>A (p.Pro1957=) c.5583C>A (p.Pro1861=) c.3111C>A (p.Pro1037=) | |
19 | g.35732696C= | CA2333794453 | KMT2B | n.453C= c.6081C= (p.Pro2027=) c.3688C= (n.3688C=) c.1365C= (p.Pro455=) n.1300C= c.1368C= (p.Pro456=) c.5689C= c.6147C= (p.Pro2049=) c.704+367C= (n.704+367C=) c.3469C= c.5871C= (p.Pro1957=) c.5583C= (p.Pro1861=) c.3111C= (p.Pro1037=) | |
19 | g.35732696C>G | CA507308568 | KMT2B | n.453C>G c.6081C>G (p.Pro2027=) c.3688C>G (n.3688C>G) c.1365C>G (p.Pro455=) n.1300C>G c.1368C>G (p.Pro456=) c.5689C>G c.6147C>G (p.Pro2049=) c.704+367C>G (n.704+367C>G) c.3469C>G c.5871C>G (p.Pro1957=) c.5583C>G (p.Pro1861=) c.3111C>G (p.Pro1037=) | |
19 | g.35732696C>T | CA307796336 | KMT2B | n.453C>T c.6081C>T (p.Pro2027=) c.3688C>T (n.3688C>T) c.1365C>T (p.Pro455=) n.1300C>T c.1368C>T (p.Pro456=) c.5689C>T c.6147C>T (p.Pro2049=) c.704+367C>T (n.704+367C>T) c.3469C>T c.5871C>T (p.Pro1957=) c.5583C>T (p.Pro1861=) c.3111C>T (p.Pro1037=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732697A= | CA2333794454 | KMT2B | n.454A= c.6082A= (p.Ser2028=) c.3689A= (n.3689A=) c.1366A= (p.Ser456=) n.1301A= c.1369A= (p.Ser457=) c.5690A= c.6148A= (p.Ser2050=) c.704+368A= (n.704+368A=) c.3470A= c.5872A= (p.Ser1958=) c.5584A= (p.Ser1862=) c.3112A= (p.Ser1038=) | |
19 | g.35732697A>C | CA405425867 | KMT2B | n.454A>C c.6082A>C (p.Ser2028Arg) c.3689A>C (n.3689A>C) c.1366A>C (p.Ser456Arg) n.1301A>C c.1369A>C (p.Ser457Arg) c.5690A>C c.6148A>C (p.Ser2050Arg) c.704+368A>C (n.704+368A>C) c.3470A>C c.5872A>C (p.Ser1958Arg) c.5584A>C (p.Ser1862Arg) c.3112A>C (p.Ser1038Arg) | |
19 | g.35732697A>G | CA9385616 | KMT2B | n.454A>G c.6082A>G (p.Ser2028Gly) c.3689A>G (n.3689A>G) c.1366A>G (p.Ser456Gly) n.1301A>G c.1369A>G (p.Ser457Gly) c.5690A>G c.6148A>G (p.Ser2050Gly) c.704+368A>G (n.704+368A>G) c.3470A>G c.5872A>G (p.Ser1958Gly) c.5584A>G (p.Ser1862Gly) c.3112A>G (p.Ser1038Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732697A>T | CA405425870 | KMT2B | n.454A>T c.6082A>T (p.Ser2028Cys) c.3689A>T (n.3689A>T) c.1366A>T (p.Ser456Cys) n.1301A>T c.1369A>T (p.Ser457Cys) c.5690A>T c.6148A>T (p.Ser2050Cys) c.704+368A>T (n.704+368A>T) c.3470A>T c.5872A>T (p.Ser1958Cys) c.5584A>T (p.Ser1862Cys) c.3112A>T (p.Ser1038Cys) | |
19 | g.35732698G>A | CA405425877 | KMT2B | n.455G>A c.6083G>A (p.Ser2028Asn) c.3690G>A (n.3690G>A) c.1367G>A (p.Ser456Asn) n.1302G>A c.1370G>A (p.Ser457Asn) c.5691G>A c.6149G>A (p.Ser2050Asn) c.704+369G>A (n.704+369G>A) c.3471G>A c.5873G>A (p.Ser1958Asn) c.5585G>A (p.Ser1862Asn) c.3113G>A (p.Ser1038Asn) | |
19 | g.35732698G>C | CA405425875 | KMT2B | n.455G>C c.6083G>C (p.Ser2028Thr) c.3690G>C (n.3690G>C) c.1367G>C (p.Ser456Thr) n.1302G>C c.1370G>C (p.Ser457Thr) c.5691G>C c.6149G>C (p.Ser2050Thr) c.704+369G>C (n.704+369G>C) c.3471G>C c.5873G>C (p.Ser1958Thr) c.5585G>C (p.Ser1862Thr) c.3113G>C (p.Ser1038Thr) | gnomAD v4 |
19 | g.35732698G>T | CA405425873 | KMT2B | n.455G>T c.6083G>T (p.Ser2028Ile) c.3690G>T (n.3690G>T) c.1367G>T (p.Ser456Ile) n.1302G>T c.1370G>T (p.Ser457Ile) c.5691G>T c.6149G>T (p.Ser2050Ile) c.704+369G>T (n.704+369G>T) c.3471G>T c.5873G>T (p.Ser1958Ile) c.5585G>T (p.Ser1862Ile) c.3113G>T (p.Ser1038Ile) | |
19 | g.35732699C>A | CA405425880 | KMT2B | n.456C>A c.6084C>A (p.Ser2028Arg) c.3691C>A (n.3691C>A) c.1368C>A (p.Ser456Arg) n.1303C>A c.1371C>A (p.Ser457Arg) c.5692C>A c.6150C>A (p.Ser2050Arg) c.704+370C>A (n.704+370C>A) c.3472C>A c.5874C>A (p.Ser1958Arg) c.5586C>A (p.Ser1862Arg) c.3114C>A (p.Ser1038Arg) | gnomAD v4 |
19 | g.35732699C= | CA2333794455 | KMT2B | n.456C= c.6084C= (p.Ser2028=) c.3691C= (n.3691C=) c.1368C= (p.Ser456=) n.1303C= c.1371C= (p.Ser457=) c.5692C= c.6150C= (p.Ser2050=) c.704+370C= (n.704+370C=) c.3472C= c.5874C= (p.Ser1958=) c.5586C= (p.Ser1862=) c.3114C= (p.Ser1038=) | |
19 | g.35732699C>G | CA405425882 | KMT2B | n.456C>G c.6084C>G (p.Ser2028Arg) c.3691C>G (n.3691C>G) c.1368C>G (p.Ser456Arg) n.1303C>G c.1371C>G (p.Ser457Arg) c.5692C>G c.6150C>G (p.Ser2050Arg) c.704+370C>G (n.704+370C>G) c.3472C>G c.5874C>G (p.Ser1958Arg) c.5586C>G (p.Ser1862Arg) c.3114C>G (p.Ser1038Arg) | |
19 | g.35732699C>T | CA507308580 | KMT2B | n.456C>T c.6084C>T (p.Ser2028=) c.3691C>T (n.3691C>T) c.1368C>T (p.Ser456=) n.1303C>T c.1371C>T (p.Ser457=) c.5692C>T c.6150C>T (p.Ser2050=) c.704+370C>T (n.704+370C>T) c.3472C>T c.5874C>T (p.Ser1958=) c.5586C>T (p.Ser1862=) c.3114C>T (p.Ser1038=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35732700G>A | CA9385617 | KMT2B | n.457G>A c.6085G>A (p.Ala2029Thr) c.3692G>A (n.3692G>A) c.1369G>A (p.Ala457Thr) n.1304G>A c.1372G>A (p.Ala458Thr) c.5693G>A c.6151G>A (p.Ala2051Thr) c.704+371G>A (n.704+371G>A) c.3473G>A c.5875G>A (p.Ala1959Thr) c.5587G>A (p.Ala1863Thr) c.3115G>A (p.Ala1039Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732700G>C | CA405425886 | KMT2B | n.457G>C c.6085G>C (p.Ala2029Pro) c.3692G>C (n.3692G>C) c.1369G>C (p.Ala457Pro) n.1304G>C c.1372G>C (p.Ala458Pro) c.5693G>C c.6151G>C (p.Ala2051Pro) c.704+371G>C (n.704+371G>C) c.3473G>C c.5875G>C (p.Ala1959Pro) c.5587G>C (p.Ala1863Pro) c.3115G>C (p.Ala1039Pro) | |
19 | g.35732700G= | CA2333794456 | KMT2B | n.457G= c.6085G= (p.Ala2029=) c.3692G= (n.3692G=) c.1369G= (p.Ala457=) n.1304G= c.1372G= (p.Ala458=) c.5693G= c.6151G= (p.Ala2051=) c.704+371G= (n.704+371G=) c.3473G= c.5875G= (p.Ala1959=) c.5587G= (p.Ala1863=) c.3115G= (p.Ala1039=) | |
19 | g.35732700G>T | CA405425888 | KMT2B | n.457G>T c.6085G>T (p.Ala2029Ser) c.3692G>T (n.3692G>T) c.1369G>T (p.Ala457Ser) n.1304G>T c.1372G>T (p.Ala458Ser) c.5693G>T c.6151G>T (p.Ala2051Ser) c.704+371G>T (n.704+371G>T) c.3473G>T c.5875G>T (p.Ala1959Ser) c.5587G>T (p.Ala1863Ser) c.3115G>T (p.Ala1039Ser) | gnomAD v4 |
19 | g.35732701C>A | CA405425890 | KMT2B | n.458C>A c.6086C>A (p.Ala2029Asp) c.3693C>A (n.3693C>A) c.1370C>A (p.Ala457Asp) n.1305C>A c.1373C>A (p.Ala458Asp) c.5694C>A c.6152C>A (p.Ala2051Asp) c.704+372C>A (n.704+372C>A) c.3474C>A c.5876C>A (p.Ala1959Asp) c.5588C>A (p.Ala1863Asp) c.3116C>A (p.Ala1039Asp) | |
19 | g.35732701C>G | CA405425891 | KMT2B | n.458C>G c.6086C>G (p.Ala2029Gly) c.3693C>G (n.3693C>G) c.1370C>G (p.Ala457Gly) n.1305C>G c.1373C>G (p.Ala458Gly) c.5694C>G c.6152C>G (p.Ala2051Gly) c.704+372C>G (n.704+372C>G) c.3474C>G c.5876C>G (p.Ala1959Gly) c.5588C>G (p.Ala1863Gly) c.3116C>G (p.Ala1039Gly) | |
19 | g.35732701C>T | CA405425893 | KMT2B | n.458C>T c.6086C>T (p.Ala2029Val) c.3693C>T (n.3693C>T) c.1370C>T (p.Ala457Val) n.1305C>T c.1373C>T (p.Ala458Val) c.5694C>T c.6152C>T (p.Ala2051Val) c.704+372C>T (n.704+372C>T) c.3474C>T c.5876C>T (p.Ala1959Val) c.5588C>T (p.Ala1863Val) c.3116C>T (p.Ala1039Val) | |
19 | g.35732702T>A | CA507308582 | KMT2B | n.459T>A c.6087T>A (p.Ala2029=) c.3694T>A (n.3694T>A) c.1371T>A (p.Ala457=) n.1306T>A c.1374T>A (p.Ala458=) c.5695T>A c.6153T>A (p.Ala2051=) c.704+373T>A (n.704+373T>A) c.3475T>A c.5877T>A (p.Ala1959=) c.5589T>A (p.Ala1863=) c.3117T>A (p.Ala1039=) | dbSNP gnomAD v4 |
19 | g.35732702T>C | CA507308583 | KMT2B | n.459T>C c.6087T>C (p.Ala2029=) c.3694T>C (n.3694T>C) c.1371T>C (p.Ala457=) n.1306T>C c.1374T>C (p.Ala458=) c.5695T>C c.6153T>C (p.Ala2051=) c.704+373T>C (n.704+373T>C) c.3475T>C c.5877T>C (p.Ala1959=) c.5589T>C (p.Ala1863=) c.3117T>C (p.Ala1039=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732702T>G | CA507308584 | KMT2B | n.459T>G c.6087T>G (p.Ala2029=) c.3694T>G (n.3694T>G) c.1371T>G (p.Ala457=) n.1306T>G c.1374T>G (p.Ala458=) c.5695T>G c.6153T>G (p.Ala2051=) c.704+373T>G (n.704+373T>G) c.3475T>G c.5877T>G (p.Ala1959=) c.5589T>G (p.Ala1863=) c.3117T>G (p.Ala1039=) | gnomAD v4 |
19 | g.35732702T= | CA2333794457 | KMT2B | n.459T= c.6087T= (p.Ala2029=) c.3694T= (n.3694T=) c.1371T= (p.Ala457=) n.1306T= c.1374T= (p.Ala458=) c.5695T= c.6153T= (p.Ala2051=) c.704+373T= (n.704+373T=) c.3475T= c.5877T= (p.Ala1959=) c.5589T= (p.Ala1863=) c.3117T= (p.Ala1039=) | |
19 | g.35732702_35732704delinsTAC | CA2333794458 | KMT2B | n.459_461delinsTAC c.6087_6089delinsTAC (p.Ala2029=) c.3694_3696delinsTAC (n.3694_3696delinsTAC) c.1371_1373delinsTAC (p.Ala457=) n.1306_1308delinsTAC c.1374_1376delinsTAC (p.Ala458=) c.5695_5697delinsTAC c.6153_6155delinsTAC (p.Ala2051=) c.704+373_704+375delinsTAC (n.704+373_704+375delinsTAC) c.3475_3477delinsTAC c.5877_5879delinsTAC (p.Ala1959=) c.5589_5591delinsTAC (p.Ala1863=) c.3117_3119delinsTAC (p.Ala1039=) | |
19 | g.35732703A>C | CA405425896 | KMT2B | n.460A>C c.6088A>C (p.Thr2030Pro) c.3695A>C (n.3695A>C) c.1372A>C (p.Thr458Pro) n.1307A>C c.1375A>C (p.Thr459Pro) c.5696A>C c.6154A>C (p.Thr2052Pro) c.704+374A>C (n.704+374A>C) c.3476A>C c.5878A>C (p.Thr1960Pro) c.5590A>C (p.Thr1864Pro) c.3118A>C (p.Thr1040Pro) | |
19 | g.35732703A>G | CA405425897 | KMT2B | n.460A>G c.6088A>G (p.Thr2030Ala) c.3695A>G (n.3695A>G) c.1372A>G (p.Thr458Ala) n.1307A>G c.1375A>G (p.Thr459Ala) c.5696A>G c.6154A>G (p.Thr2052Ala) c.704+374A>G (n.704+374A>G) c.3476A>G c.5878A>G (p.Thr1960Ala) c.5590A>G (p.Thr1864Ala) c.3118A>G (p.Thr1040Ala) | |
19 | g.35732703A>T | CA405425899 | KMT2B | n.460A>T c.6088A>T (p.Thr2030Ser) c.3695A>T (n.3695A>T) c.1372A>T (p.Thr458Ser) n.1307A>T c.1375A>T (p.Thr459Ser) c.5696A>T c.6154A>T (p.Thr2052Ser) c.704+374A>T (n.704+374A>T) c.3476A>T c.5878A>T (p.Thr1960Ser) c.5590A>T (p.Thr1864Ser) c.3118A>T (p.Thr1040Ser) | |
19 | g.35732703_35732704del | CA2333794459 | KMT2B | n.460_461del c.6088_6089del (p.Thr2030ProfsTer7) c.3695_3696del (n.3695_3696del) c.1372_1373del (p.Thr458ProfsTer7) n.1307_1308del c.1375_1376del (p.Thr459ProfsTer7) c.5696_5697del c.6154_6155del (p.Thr2052ProfsTer7) c.704+374_704+375del (n.704+374_704+375del) c.3476_3477del c.5878_5879del (p.Thr1960ProfsTer7) c.5590_5591del (p.Thr1864ProfsTer7) c.3118_3119del (p.Thr1040ProfsTer7) | dbSNP |
19 | g.35732704C>A | CA307796349 | KMT2B | n.461C>A c.6089C>A (p.Thr2030Asn) c.3696C>A (n.3696C>A) c.1373C>A (p.Thr458Asn) n.1308C>A c.1376C>A (p.Thr459Asn) c.5697C>A c.6155C>A (p.Thr2052Asn) c.704+375C>A (n.704+375C>A) c.3477C>A c.5879C>A (p.Thr1960Asn) c.5591C>A (p.Thr1864Asn) c.3119C>A (p.Thr1040Asn) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35732704C= | CA2333794460 | KMT2B | n.461C= c.6089C= (p.Thr2030=) c.3696C= (n.3696C=) c.1373C= (p.Thr458=) n.1308C= c.1376C= (p.Thr459=) c.5697C= c.6155C= (p.Thr2052=) c.704+375C= (n.704+375C=) c.3477C= c.5879C= (p.Thr1960=) c.5591C= (p.Thr1864=) c.3119C= (p.Thr1040=) | |
19 | g.35732704C>G | CA405425905 | KMT2B | n.461C>G c.6089C>G (p.Thr2030Ser) c.3696C>G (n.3696C>G) c.1373C>G (p.Thr458Ser) n.1308C>G c.1376C>G (p.Thr459Ser) c.5697C>G c.6155C>G (p.Thr2052Ser) c.704+375C>G (n.704+375C>G) c.3477C>G c.5879C>G (p.Thr1960Ser) c.5591C>G (p.Thr1864Ser) c.3119C>G (p.Thr1040Ser) | |
19 | g.35732704C>T | CA405425902 | KMT2B | n.461C>T c.6089C>T (p.Thr2030Ile) c.3696C>T (n.3696C>T) c.1373C>T (p.Thr458Ile) n.1308C>T c.1376C>T (p.Thr459Ile) c.5697C>T c.6155C>T (p.Thr2052Ile) c.704+375C>T (n.704+375C>T) c.3477C>T c.5879C>T (p.Thr1960Ile) c.5591C>T (p.Thr1864Ile) c.3119C>T (p.Thr1040Ile) | dbSNP gnomAD v4 |
19 | g.35732705C>A | CA507308596 | KMT2B | n.462C>A c.6090C>A (p.Thr2030=) c.3697C>A (n.3697C>A) c.1374C>A (p.Thr458=) n.1309C>A c.1377C>A (p.Thr459=) c.5698C>A c.6156C>A (p.Thr2052=) c.704+376C>A (n.704+376C>A) c.3478C>A c.5880C>A (p.Thr1960=) c.5592C>A (p.Thr1864=) c.3120C>A (p.Thr1040=) | |
19 | g.35732705C= | CA2333794461 | KMT2B | n.462C= c.6090C= (p.Thr2030=) c.3697C= (n.3697C=) c.1374C= (p.Thr458=) n.1309C= c.1377C= (p.Thr459=) c.5698C= c.6156C= (p.Thr2052=) c.704+376C= (n.704+376C=) c.3478C= c.5880C= (p.Thr1960=) c.5592C= (p.Thr1864=) c.3120C= (p.Thr1040=) | |
19 | g.35732705C>G | CA9385618 | KMT2B | n.462C>G c.6090C>G (p.Thr2030=) c.3697C>G (n.3697C>G) c.1374C>G (p.Thr458=) n.1309C>G c.1377C>G (p.Thr459=) c.5698C>G c.6156C>G (p.Thr2052=) c.704+376C>G (n.704+376C>G) c.3478C>G c.5880C>G (p.Thr1960=) c.5592C>G (p.Thr1864=) c.3120C>G (p.Thr1040=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732705C>T | CA507308595 | KMT2B | n.462C>T c.6090C>T (p.Thr2030=) c.3697C>T (n.3697C>T) c.1374C>T (p.Thr458=) n.1309C>T c.1377C>T (p.Thr459=) c.5698C>T c.6156C>T (p.Thr2052=) c.704+376C>T (n.704+376C>T) c.3478C>T c.5880C>T (p.Thr1960=) c.5592C>T (p.Thr1864=) c.3120C>T (p.Thr1040=) | dbSNP gnomAD v4 |
19 | g.35732706C>A | CA405425912 | KMT2B | n.463C>A c.6091C>A (p.Pro2031Thr) c.3698C>A (n.3698C>A) c.1375C>A (p.Pro459Thr) n.1310C>A c.1378C>A (p.Pro460Thr) c.5699C>A c.6157C>A (p.Pro2053Thr) c.704+377C>A (n.704+377C>A) c.3479C>A c.5881C>A (p.Pro1961Thr) c.5593C>A (p.Pro1865Thr) c.3121C>A (p.Pro1041Thr) | gnomAD v4 |
19 | g.35732706C= | CA2333794462 | KMT2B | n.463C= c.6091C= (p.Pro2031=) c.3698C= (n.3698C=) c.1375C= (p.Pro459=) n.1310C= c.1378C= (p.Pro460=) c.5699C= c.6157C= (p.Pro2053=) c.704+377C= (n.704+377C=) c.3479C= c.5881C= (p.Pro1961=) c.5593C= (p.Pro1865=) c.3121C= (p.Pro1041=) | |
19 | g.35732706C>G | CA405425913 | KMT2B | n.463C>G c.6091C>G (p.Pro2031Ala) c.3698C>G (n.3698C>G) c.1375C>G (p.Pro459Ala) n.1310C>G c.1378C>G (p.Pro460Ala) c.5699C>G c.6157C>G (p.Pro2053Ala) c.704+377C>G (n.704+377C>G) c.3479C>G c.5881C>G (p.Pro1961Ala) c.5593C>G (p.Pro1865Ala) c.3121C>G (p.Pro1041Ala) | |
19 | g.35732706C>T | CA307796362 | KMT2B | n.463C>T c.6091C>T (p.Pro2031Ser) c.3698C>T (n.3698C>T) c.1375C>T (p.Pro459Ser) n.1310C>T c.1378C>T (p.Pro460Ser) c.5699C>T c.6157C>T (p.Pro2053Ser) c.704+377C>T (n.704+377C>T) c.3479C>T c.5881C>T (p.Pro1961Ser) c.5593C>T (p.Pro1865Ser) c.3121C>T (p.Pro1041Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732707C>A | CA9385619 | KMT2B | n.464C>A c.6092C>A (p.Pro2031His) c.3699C>A (n.3699C>A) c.1376C>A (p.Pro459His) n.1311C>A c.1379C>A (p.Pro460His) c.5700C>A c.6158C>A (p.Pro2053His) c.704+378C>A (n.704+378C>A) c.3480C>A c.5882C>A (p.Pro1961His) c.5594C>A (p.Pro1865His) c.3122C>A (p.Pro1041His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732707C= | CA2333794463 | KMT2B | n.464C= c.6092C= (p.Pro2031=) c.3699C= (n.3699C=) c.1376C= (p.Pro459=) n.1311C= c.1379C= (p.Pro460=) c.5700C= c.6158C= (p.Pro2053=) c.704+378C= (n.704+378C=) c.3480C= c.5882C= (p.Pro1961=) c.5594C= (p.Pro1865=) c.3122C= (p.Pro1041=) | |
19 | g.35732707C>G | CA405425919 | KMT2B | n.464C>G c.6092C>G (p.Pro2031Arg) c.3699C>G (n.3699C>G) c.1376C>G (p.Pro459Arg) n.1311C>G c.1379C>G (p.Pro460Arg) c.5700C>G c.6158C>G (p.Pro2053Arg) c.704+378C>G (n.704+378C>G) c.3480C>G c.5882C>G (p.Pro1961Arg) c.5594C>G (p.Pro1865Arg) c.3122C>G (p.Pro1041Arg) | |
19 | g.35732707C>T | CA405425921 | KMT2B | n.464C>T c.6092C>T (p.Pro2031Leu) c.3699C>T (n.3699C>T) c.1376C>T (p.Pro459Leu) n.1311C>T c.1379C>T (p.Pro460Leu) c.5700C>T c.6158C>T (p.Pro2053Leu) c.704+378C>T (n.704+378C>T) c.3480C>T c.5882C>T (p.Pro1961Leu) c.5594C>T (p.Pro1865Leu) c.3122C>T (p.Pro1041Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35732708T>A | CA507308599 | KMT2B | n.465T>A c.6093T>A (p.Pro2031=) c.3700T>A (n.3700T>A) c.1377T>A (p.Pro459=) n.1312T>A c.1380T>A (p.Pro460=) c.5701T>A c.6159T>A (p.Pro2053=) c.704+379T>A (n.704+379T>A) c.3481T>A c.5883T>A (p.Pro1961=) c.5595T>A (p.Pro1865=) c.3123T>A (p.Pro1041=) | |
19 | g.35732708T>C | CA507308600 | KMT2B | n.465T>C c.6093T>C (p.Pro2031=) c.3700T>C (n.3700T>C) c.1377T>C (p.Pro459=) n.1312T>C c.1380T>C (p.Pro460=) c.5701T>C c.6159T>C (p.Pro2053=) c.704+379T>C (n.704+379T>C) c.3481T>C c.5883T>C (p.Pro1961=) c.5595T>C (p.Pro1865=) c.3123T>C (p.Pro1041=) | |
19 | g.35732708T>G | CA507308601 | KMT2B | n.465T>G c.6093T>G (p.Pro2031=) c.3700T>G (n.3700T>G) c.1377T>G (p.Pro459=) n.1312T>G c.1380T>G (p.Pro460=) c.5701T>G c.6159T>G (p.Pro2053=) c.704+379T>G (n.704+379T>G) c.3481T>G c.5883T>G (p.Pro1961=) c.5595T>G (p.Pro1865=) c.3123T>G (p.Pro1041=) | |
19 | g.35732709G>A | CA405425924 | KMT2B | n.466G>A c.6094G>A (p.Gly2032Arg) c.3701G>A (n.3701G>A) c.1378G>A (p.Gly460Arg) n.1313G>A c.1381G>A (p.Gly461Arg) c.5702G>A c.6160G>A (p.Gly2054Arg) c.704+380G>A (n.704+380G>A) c.3482G>A c.5884G>A (p.Gly1962Arg) c.5596G>A (p.Gly1866Arg) c.3124G>A (p.Gly1042Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.35732709G>C | CA405425926 | KMT2B | n.466G>C c.6094G>C (p.Gly2032Arg) c.3701G>C (n.3701G>C) c.1378G>C (p.Gly460Arg) n.1313G>C c.1381G>C (p.Gly461Arg) c.5702G>C c.6160G>C (p.Gly2054Arg) c.704+380G>C (n.704+380G>C) c.3482G>C c.5884G>C (p.Gly1962Arg) c.5596G>C (p.Gly1866Arg) c.3124G>C (p.Gly1042Arg) | |
19 | g.35732709G= | CA2333794464 | KMT2B | n.466G= c.6094G= (p.Gly2032=) c.3701G= (n.3701G=) c.1378G= (p.Gly460=) n.1313G= c.1381G= (p.Gly461=) c.5702G= c.6160G= (p.Gly2054=) c.704+380G= (n.704+380G=) c.3482G= c.5884G= (p.Gly1962=) c.5596G= (p.Gly1866=) c.3124G= (p.Gly1042=) | |
19 | g.35732709G>T | CA405425928 | KMT2B | n.466G>T c.6094G>T (p.Gly2032Ter) c.3701G>T (n.3701G>T) c.1378G>T (p.Gly460Ter) n.1313G>T c.1381G>T (p.Gly461Ter) c.5702G>T c.6160G>T (p.Gly2054Ter) c.704+380G>T (n.704+380G>T) c.3482G>T c.5884G>T (p.Gly1962Ter) c.5596G>T (p.Gly1866Ter) c.3124G>T (p.Gly1042Ter) | |
19 | g.35732710G>A | CA405425931 | KMT2B | n.467G>A c.6095G>A (p.Gly2032Glu) c.3702G>A (n.3702G>A) c.1379G>A (p.Gly460Glu) n.1314G>A c.1382G>A (p.Gly461Glu) c.5703G>A c.6161G>A (p.Gly2054Glu) c.704+381G>A (n.704+381G>A) c.3483G>A c.5885G>A (p.Gly1962Glu) c.5597G>A (p.Gly1866Glu) c.3125G>A (p.Gly1042Glu) | |
19 | g.35732710G>C | CA405425933 | KMT2B | n.467G>C c.6095G>C (p.Gly2032Ala) c.3702G>C (n.3702G>C) c.1379G>C (p.Gly460Ala) n.1314G>C c.1382G>C (p.Gly461Ala) c.5703G>C c.6161G>C (p.Gly2054Ala) c.704+381G>C (n.704+381G>C) c.3483G>C c.5885G>C (p.Gly1962Ala) c.5597G>C (p.Gly1866Ala) c.3125G>C (p.Gly1042Ala) | |
19 | g.35732710G>T | CA405425935 | KMT2B | n.467G>T c.6095G>T (p.Gly2032Val) c.3702G>T (n.3702G>T) c.1379G>T (p.Gly460Val) n.1314G>T c.1382G>T (p.Gly461Val) c.5703G>T c.6161G>T (p.Gly2054Val) c.704+381G>T (n.704+381G>T) c.3483G>T c.5885G>T (p.Gly1962Val) c.5597G>T (p.Gly1866Val) c.3125G>T (p.Gly1042Val) | |
19 | g.35732711A>C | CA507308607 | KMT2B | n.468A>C c.6096A>C (p.Gly2032=) c.3703A>C (n.3703A>C) c.1380A>C (p.Gly460=) n.1315A>C c.1383A>C (p.Gly461=) c.5704A>C c.6162A>C (p.Gly2054=) c.704+382A>C (n.704+382A>C) c.3484A>C c.5886A>C (p.Gly1962=) c.5598A>C (p.Gly1866=) c.3126A>C (p.Gly1042=) | |
19 | g.35732711A>G | CA507308615 | KMT2B | n.468A>G c.6096A>G (p.Gly2032=) c.3703A>G (n.3703A>G) c.1380A>G (p.Gly460=) n.1315A>G c.1383A>G (p.Gly461=) c.5704A>G c.6162A>G (p.Gly2054=) c.704+382A>G (n.704+382A>G) c.3484A>G c.5886A>G (p.Gly1962=) c.5598A>G (p.Gly1866=) c.3126A>G (p.Gly1042=) | |
19 | g.35732711A>T | CA507308612 | KMT2B | n.468A>T c.6096A>T (p.Gly2032=) c.3703A>T (n.3703A>T) c.1380A>T (p.Gly460=) n.1315A>T c.1383A>T (p.Gly461=) c.5704A>T c.6162A>T (p.Gly2054=) c.704+382A>T (n.704+382A>T) c.3484A>T c.5886A>T (p.Gly1962=) c.5598A>T (p.Gly1866=) c.3126A>T (p.Gly1042=) | |
19 | g.35732712G>A | CA405425940 | KMT2B | n.469G>A c.6097G>A (p.Ala2033Thr) c.3704G>A (n.3704G>A) c.1381G>A (p.Ala461Thr) n.1316G>A c.1384G>A (p.Ala462Thr) c.5705G>A c.6163G>A (p.Ala2055Thr) c.704+383G>A (n.704+383G>A) c.3485G>A c.5887G>A (p.Ala1963Thr) c.5599G>A (p.Ala1867Thr) c.3127G>A (p.Ala1043Thr) | gnomAD v4 |
19 | g.35732712G>C | CA9385621 | KMT2B | n.469G>C c.6097G>C (p.Ala2033Pro) c.3704G>C (n.3704G>C) c.1381G>C (p.Ala461Pro) n.1316G>C c.1384G>C (p.Ala462Pro) c.5705G>C c.6163G>C (p.Ala2055Pro) c.704+383G>C (n.704+383G>C) c.3485G>C c.5887G>C (p.Ala1963Pro) c.5599G>C (p.Ala1867Pro) c.3127G>C (p.Ala1043Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732712G= | CA2333794465 | KMT2B | n.469G= c.6097G= (p.Ala2033=) c.3704G= (n.3704G=) c.1381G= (p.Ala461=) n.1316G= c.1384G= (p.Ala462=) c.5705G= c.6163G= (p.Ala2055=) c.704+383G= (n.704+383G=) c.3485G= c.5887G= (p.Ala1963=) c.5599G= (p.Ala1867=) c.3127G= (p.Ala1043=) | |
19 | g.35732712G>T | CA405425938 | KMT2B | n.469G>T c.6097G>T (p.Ala2033Ser) c.3704G>T (n.3704G>T) c.1381G>T (p.Ala461Ser) n.1316G>T c.1384G>T (p.Ala462Ser) c.5705G>T c.6163G>T (p.Ala2055Ser) c.704+383G>T (n.704+383G>T) c.3485G>T c.5887G>T (p.Ala1963Ser) c.5599G>T (p.Ala1867Ser) c.3127G>T (p.Ala1043Ser) | gnomAD v4 |
19 | g.35732713C>A | CA405425943 | KMT2B | n.470C>A c.6098C>A (p.Ala2033Asp) c.3705C>A (n.3705C>A) c.1382C>A (p.Ala461Asp) n.1317C>A c.1385C>A (p.Ala462Asp) c.5706C>A c.6164C>A (p.Ala2055Asp) c.704+384C>A (n.704+384C>A) c.3486C>A c.5888C>A (p.Ala1963Asp) c.5600C>A (p.Ala1867Asp) c.3128C>A (p.Ala1043Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732713C= | CA2333794466 | KMT2B | n.470C= c.6098C= (p.Ala2033=) c.3705C= (n.3705C=) c.1382C= (p.Ala461=) n.1317C= c.1385C= (p.Ala462=) c.5706C= c.6164C= (p.Ala2055=) c.704+384C= (n.704+384C=) c.3486C= c.5888C= (p.Ala1963=) c.5600C= (p.Ala1867=) c.3128C= (p.Ala1043=) | |
19 | g.35732713C>G | CA405425945 | KMT2B | n.470C>G c.6098C>G (p.Ala2033Gly) c.3705C>G (n.3705C>G) c.1382C>G (p.Ala461Gly) n.1317C>G c.1385C>G (p.Ala462Gly) c.5706C>G c.6164C>G (p.Ala2055Gly) c.704+384C>G (n.704+384C>G) c.3486C>G c.5888C>G (p.Ala1963Gly) c.5600C>G (p.Ala1867Gly) c.3128C>G (p.Ala1043Gly) | |
19 | g.35732713C>T | CA405425948 | KMT2B | n.470C>T c.6098C>T (p.Ala2033Val) c.3705C>T (n.3705C>T) c.1382C>T (p.Ala461Val) n.1317C>T c.1385C>T (p.Ala462Val) c.5706C>T c.6164C>T (p.Ala2055Val) c.704+384C>T (n.704+384C>T) c.3486C>T c.5888C>T (p.Ala1963Val) c.5600C>T (p.Ala1867Val) c.3128C>T (p.Ala1043Val) | COSMIC |
19 | g.35732718dup | CA9385620 | KMT2B | n.475dup c.6103dup (p.Arg2035ProfsTer3) c.3710dup (n.3710dup) c.1387dup (p.Arg463ProfsTer3) n.1322dup c.1390dup (p.Arg464ProfsTer3) c.5711dup c.6169dup (p.Arg2057ProfsTer3) c.704+389dup (n.704+389dup) c.3491dup c.5893dup (p.Arg1965ProfsTer3) c.5605dup (p.Arg1869ProfsTer3) c.3133dup (p.Arg1045ProfsTer3) | dbSNP ExAC gnomAD v4 |
19 | g.35732717_35732718dup | CA2814254938 | KMT2B | n.474_475dup c.6102_6103dup (p.Arg2035ProfsTer?) c.3709_3710dup (n.3709_3710dup) c.1386_1387dup (p.Arg463ProfsTer?) n.1321_1322dup c.1389_1390dup (p.Arg464ProfsTer?) c.5710_5711dup c.6168_6169dup (p.Arg2057ProfsTer?) c.704+388_704+389dup (n.704+388_704+389dup) c.3490_3491dup c.5892_5893dup (p.Arg1965ProfsTer?) c.5604_5605dup (p.Arg1869ProfsTer?) c.3132_3133dup (p.Arg1045ProfsTer?) | |
19 | g.35732714C>A | CA507308645 | KMT2B | n.471C>A c.6099C>A (p.Ala2033=) c.3706C>A (n.3706C>A) c.1383C>A (p.Ala461=) n.1318C>A c.1386C>A (p.Ala462=) c.5707C>A c.6165C>A (p.Ala2055=) c.704+385C>A (n.704+385C>A) c.3487C>A c.5889C>A (p.Ala1963=) c.5601C>A (p.Ala1867=) c.3129C>A (p.Ala1043=) | dbSNP gnomAD v4 |
19 | g.35732714C= | CA2333794467 | KMT2B | n.471C= c.6099C= (p.Ala2033=) c.3706C= (n.3706C=) c.1383C= (p.Ala461=) n.1318C= c.1386C= (p.Ala462=) c.5707C= c.6165C= (p.Ala2055=) c.704+385C= (n.704+385C=) c.3487C= c.5889C= (p.Ala1963=) c.5601C= (p.Ala1867=) c.3129C= (p.Ala1043=) | |
19 | g.35732714C>G | CA9385622 | KMT2B | n.471C>G c.6099C>G (p.Ala2033=) c.3706C>G (n.3706C>G) c.1383C>G (p.Ala461=) n.1318C>G c.1386C>G (p.Ala462=) c.5707C>G c.6165C>G (p.Ala2055=) c.704+385C>G (n.704+385C>G) c.3487C>G c.5889C>G (p.Ala1963=) c.5601C>G (p.Ala1867=) c.3129C>G (p.Ala1043=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732714C>T | CA507308642 | KMT2B | n.471C>T c.6099C>T (p.Ala2033=) c.3706C>T (n.3706C>T) c.1383C>T (p.Ala461=) n.1318C>T c.1386C>T (p.Ala462=) c.5707C>T c.6165C>T (p.Ala2055=) c.704+385C>T (n.704+385C>T) c.3487C>T c.5889C>T (p.Ala1963=) c.5601C>T (p.Ala1867=) c.3129C>T (p.Ala1043=) | |
19 | g.35732715C>A | CA405425951 | KMT2B | n.472C>A c.6100C>A (p.Pro2034Thr) c.3707C>A (n.3707C>A) c.1384C>A (p.Pro462Thr) n.1319C>A c.1387C>A (p.Pro463Thr) c.5708C>A c.6166C>A (p.Pro2056Thr) c.704+386C>A (n.704+386C>A) c.3488C>A c.5890C>A (p.Pro1964Thr) c.5602C>A (p.Pro1868Thr) c.3130C>A (p.Pro1044Thr) | |
19 | g.35732715C= | CA2333794468 | KMT2B | n.472C= c.6100C= (p.Pro2034=) c.3707C= (n.3707C=) c.1384C= (p.Pro462=) n.1319C= c.1387C= (p.Pro463=) c.5708C= c.6166C= (p.Pro2056=) c.704+386C= (n.704+386C=) c.3488C= c.5890C= (p.Pro1964=) c.5602C= (p.Pro1868=) c.3130C= (p.Pro1044=) | |
19 | g.35732715C>G | CA405425952 | KMT2B | n.472C>G c.6100C>G (p.Pro2034Ala) c.3707C>G (n.3707C>G) c.1384C>G (p.Pro462Ala) n.1319C>G c.1387C>G (p.Pro463Ala) c.5708C>G c.6166C>G (p.Pro2056Ala) c.704+386C>G (n.704+386C>G) c.3488C>G c.5890C>G (p.Pro1964Ala) c.5602C>G (p.Pro1868Ala) c.3130C>G (p.Pro1044Ala) | |
19 | g.35732715C>T | CA405425955 | KMT2B | n.472C>T c.6100C>T (p.Pro2034Ser) c.3707C>T (n.3707C>T) c.1384C>T (p.Pro462Ser) n.1319C>T c.1387C>T (p.Pro463Ser) c.5708C>T c.6166C>T (p.Pro2056Ser) c.704+386C>T (n.704+386C>T) c.3488C>T c.5890C>T (p.Pro1964Ser) c.5602C>T (p.Pro1868Ser) c.3130C>T (p.Pro1044Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732716C>A | CA405425958 | KMT2B | n.473C>A c.6101C>A (p.Pro2034His) c.3708C>A (n.3708C>A) c.1385C>A (p.Pro462His) n.1320C>A c.1388C>A (p.Pro463His) c.5709C>A c.6167C>A (p.Pro2056His) c.704+387C>A (n.704+387C>A) c.3489C>A c.5891C>A (p.Pro1964His) c.5603C>A (p.Pro1868His) c.3131C>A (p.Pro1044His) | |
19 | g.35732716C= | CA2333794469 | KMT2B | n.473C= c.6101C= (p.Pro2034=) c.3708C= (n.3708C=) c.1385C= (p.Pro462=) n.1320C= c.1388C= (p.Pro463=) c.5709C= c.6167C= (p.Pro2056=) c.704+387C= (n.704+387C=) c.3489C= c.5891C= (p.Pro1964=) c.5603C= (p.Pro1868=) c.3131C= (p.Pro1044=) | |
19 | g.35732716C>G | CA405425960 | KMT2B | n.473C>G c.6101C>G (p.Pro2034Arg) c.3708C>G (n.3708C>G) c.1385C>G (p.Pro462Arg) n.1320C>G c.1388C>G (p.Pro463Arg) c.5709C>G c.6167C>G (p.Pro2056Arg) c.704+387C>G (n.704+387C>G) c.3489C>G c.5891C>G (p.Pro1964Arg) c.5603C>G (p.Pro1868Arg) c.3131C>G (p.Pro1044Arg) | |
19 | g.35732716C>T | CA405425962 | KMT2B | n.473C>T c.6101C>T (p.Pro2034Leu) c.3708C>T (n.3708C>T) c.1385C>T (p.Pro462Leu) n.1320C>T c.1388C>T (p.Pro463Leu) c.5709C>T c.6167C>T (p.Pro2056Leu) c.704+387C>T (n.704+387C>T) c.3489C>T c.5891C>T (p.Pro1964Leu) c.5603C>T (p.Pro1868Leu) c.3131C>T (p.Pro1044Leu) | dbSNP gnomAD v2 |