Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154860438T>A | CA414902867 | F8 | c.6894A>T (p.Lys2298Asn) c.627A>T (p.Lys209Asn) c.489A>T (p.Lys163Asn) c.6789A>T (p.Lys2263Asn) | |
X | g.154860438T>C | CA519356035 | F8 | c.6894A>G (p.Lys2298=) c.627A>G (p.Lys209=) c.489A>G (p.Lys163=) c.6789A>G (p.Lys2263=) | |
X | g.154860438T>G | CA414902870 | F8 | c.6894A>C (p.Lys2298Asn) c.627A>C (p.Lys209Asn) c.489A>C (p.Lys163Asn) c.6789A>C (p.Lys2263Asn) | |
X | g.154860440del | CA2695237120 | F8 | c.6894del (p.Val2299Ter) c.627del (p.Val210Ter) c.489del (p.Val164Ter) c.6789del (p.Val2264Ter) | |
X | g.154860439T>A | CA414902887 | F8 | c.6893A>T (p.Lys2298Ile) c.626A>T (p.Lys209Ile) c.488A>T (p.Lys163Ile) c.6788A>T (p.Lys2263Ile) | |
X | g.154860439T>C | CA414902893 | F8 | c.6893A>G (p.Lys2298Arg) c.626A>G (p.Lys209Arg) c.488A>G (p.Lys163Arg) c.6788A>G (p.Lys2263Arg) | |
X | g.154860439T>G | CA414902897 | F8 | c.6893A>C (p.Lys2298Thr) c.626A>C (p.Lys209Thr) c.488A>C (p.Lys163Thr) c.6788A>C (p.Lys2263Thr) | |
X | g.154860440T>A | CA414902904 | F8 | c.6892A>T (p.Lys2298Ter) c.625A>T (p.Lys209Ter) c.487A>T (p.Lys163Ter) c.6787A>T (p.Lys2263Ter) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154860440T>C | CA414902908 | F8 | c.6892A>G (p.Lys2298Glu) c.625A>G (p.Lys209Glu) c.487A>G (p.Lys163Glu) c.6787A>G (p.Lys2263Glu) | |
X | g.154860440T>G | CA414902915 | F8 | c.6892A>C (p.Lys2298Gln) c.625A>C (p.Lys209Gln) c.487A>C (p.Lys163Gln) c.6787A>C (p.Lys2263Gln) | |
X | g.154860440T= | CA2466814976 | F8 | c.6892A= (p.Lys2298=) c.625A= (p.Lys209=) c.487A= (p.Lys163=) c.6787A= (p.Lys2263=) | |
X | g.154860441G>A | CA519356037 | F8 | c.6891C>T (p.Gly2297=) c.624C>T (p.Gly208=) c.486C>T (p.Gly162=) c.6786C>T (p.Gly2262=) | |
X | g.154860441G>C | CA519356039 | F8 | c.6891C>G (p.Gly2297=) c.624C>G (p.Gly208=) c.486C>G (p.Gly162=) c.6786C>G (p.Gly2262=) | |
X | g.154860441G>T | CA519356038 | F8 | c.6891C>A (p.Gly2297=) c.624C>A (p.Gly208=) c.486C>A (p.Gly162=) c.6786C>A (p.Gly2262=) | gnomAD v4 |
X | g.154860442C>A | CA414902921 | F8 | c.6890G>T (p.Gly2297Val) c.623G>T (p.Gly208Val) c.485G>T (p.Gly162Val) c.6785G>T (p.Gly2262Val) | |
X | g.154860442C>G | CA414902925 | F8 | c.6890G>C (p.Gly2297Ala) c.623G>C (p.Gly208Ala) c.485G>C (p.Gly162Ala) c.6785G>C (p.Gly2262Ala) | |
X | g.154860442C>T | CA414902922 | F8 | c.6890G>A (p.Gly2297Asp) c.623G>A (p.Gly208Asp) c.485G>A (p.Gly162Asp) c.6785G>A (p.Gly2262Asp) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154860443C>A | CA414902930 | F8 | c.6889G>T (p.Gly2297Cys) c.622G>T (p.Gly208Cys) c.484G>T (p.Gly162Cys) c.6784G>T (p.Gly2262Cys) | COSMIC COSMIC |
X | g.154860443C= | CA2466814977 | F8 | c.6889G= (p.Gly2297=) c.622G= (p.Gly208=) c.484G= (p.Gly162=) c.6784G= (p.Gly2262=) | |
X | g.154860443C>G | CA414902941 | F8 | c.6889G>C (p.Gly2297Arg) c.622G>C (p.Gly208Arg) c.484G>C (p.Gly162Arg) c.6784G>C (p.Gly2262Arg) | |
X | g.154860443C>T | CA414902942 | F8 | c.6889G>A (p.Gly2297Ser) c.622G>A (p.Gly208Ser) c.484G>A (p.Gly162Ser) c.6784G>A (p.Gly2262Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154860444A= | CA2466814978 | F8 | c.6888T= (p.Asn2296=) c.621T= (p.Asn207=) c.483T= (p.Asn161=) c.6783T= (p.Asn2261=) | |
X | g.154860444A>C | CA414902944 | F8 | c.6888T>G (p.Asn2296Lys) c.621T>G (p.Asn207Lys) c.483T>G (p.Asn161Lys) c.6783T>G (p.Asn2261Lys) | dbSNP gnomAD v4 |
X | g.154860444A>G | CA10567752 | F8 | c.6888T>C (p.Asn2296=) c.621T>C (p.Asn207=) c.483T>C (p.Asn161=) c.6783T>C (p.Asn2261=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154860444A>T | CA414902950 | F8 | c.6888T>A (p.Asn2296Lys) c.621T>A (p.Asn207Lys) c.483T>A (p.Asn161Lys) c.6783T>A (p.Asn2261Lys) | |
X | g.154860445T>A | CA414902956 | F8 | c.6887A>T (p.Asn2296Ile) c.620A>T (p.Asn207Ile) c.482A>T (p.Asn161Ile) c.6782A>T (p.Asn2261Ile) | |
X | g.154860445T>C | CA414902959 | F8 | c.6887A>G (p.Asn2296Ser) c.620A>G (p.Asn207Ser) c.482A>G (p.Asn161Ser) c.6782A>G (p.Asn2261Ser) | |
X | g.154860445T>G | CA414902960 | F8 | c.6887A>C (p.Asn2296Thr) c.620A>C (p.Asn207Thr) c.482A>C (p.Asn161Thr) c.6782A>C (p.Asn2261Thr) | |
X | g.154860446del | CA2695237122 | F8 | c.6887del (p.Asn2296MetfsTer4) c.620del (p.Asn207MetfsTer4) c.482del (p.Asn161MetfsTer4) c.6782del (p.Asn2261MetfsTer4) | |
X | g.154860446T>A | CA414902983 | F8 | c.6886A>T (p.Asn2296Tyr) c.619A>T (p.Asn207Tyr) c.481A>T (p.Asn161Tyr) c.6781A>T (p.Asn2261Tyr) | |
X | g.154860446T>C | CA414902971 | F8 | c.6886A>G (p.Asn2296Asp) c.619A>G (p.Asn207Asp) c.481A>G (p.Asn161Asp) c.6781A>G (p.Asn2261Asp) | |
X | g.154860446T>G | CA414902963 | F8 | c.6886A>C (p.Asn2296His) c.619A>C (p.Asn207His) c.481A>C (p.Asn161His) c.6781A>C (p.Asn2261His) | |
X | g.154860447C>A | CA414902985 | F8 | c.6885G>T (p.Gln2295His) c.618G>T (p.Gln206His) c.480G>T (p.Gln160His) c.6780G>T (p.Gln2260His) | |
X | g.154860447C>G | CA414902986 | F8 | c.6885G>C (p.Gln2295His) c.618G>C (p.Gln206His) c.480G>C (p.Gln160His) c.6780G>C (p.Gln2260His) | |
X | g.154860447C>T | CA519356044 | F8 | c.6885G>A (p.Gln2295=) c.618G>A (p.Gln206=) c.480G>A (p.Gln160=) c.6780G>A (p.Gln2260=) | |
X | g.154860448T>A | CA414902991 | F8 | c.6884A>T (p.Gln2295Leu) c.617A>T (p.Gln206Leu) c.479A>T (p.Gln160Leu) c.6779A>T (p.Gln2260Leu) | |
X | g.154860448T>C | CA414902997 | F8 | c.6884A>G (p.Gln2295Arg) c.617A>G (p.Gln206Arg) c.479A>G (p.Gln160Arg) c.6779A>G (p.Gln2260Arg) | gnomAD v4 |
X | g.154860448T>G | CA414903008 | F8 | c.6884A>C (p.Gln2295Pro) c.617A>C (p.Gln206Pro) c.479A>C (p.Gln160Pro) c.6779A>C (p.Gln2260Pro) | |
X | g.154860449G>A | CA414903015 | F8 | c.6883C>T (p.Gln2295Ter) c.616C>T (p.Gln206Ter) c.478C>T (p.Gln160Ter) c.6778C>T (p.Gln2260Ter) | COSMIC COSMIC |
X | g.154860449G>C | CA414903021 | F8 | c.6883C>G (p.Gln2295Glu) c.616C>G (p.Gln206Glu) c.478C>G (p.Gln160Glu) c.6778C>G (p.Gln2260Glu) | |
X | g.154860449G>T | CA414903028 | F8 | c.6883C>A (p.Gln2295Lys) c.616C>A (p.Gln206Lys) c.478C>A (p.Gln160Lys) c.6778C>A (p.Gln2260Lys) | |
X | g.154860449_154860453delinsGAAAA | CA2466814979 | F8 | c.6879_6883delinsTTTTC (p.Phe2293=) c.612_616delinsTTTTC (p.Phe204=) c.474_478delinsTTTTC (p.Phe158=) c.6774_6778delinsTTTTC (p.Phe2258=) | |
X | g.154860450A>C | CA414903037 | F8 | c.6882T>G (p.Phe2294Leu) c.615T>G (p.Phe205Leu) c.477T>G (p.Phe159Leu) c.6777T>G (p.Phe2259Leu) | |
X | g.154860450A>G | CA519356045 | F8 | c.6882T>C (p.Phe2294=) c.615T>C (p.Phe205=) c.477T>C (p.Phe159=) c.6777T>C (p.Phe2259=) | |
X | g.154860450A>T | CA414903038 | F8 | c.6882T>A (p.Phe2294Leu) c.615T>A (p.Phe205Leu) c.477T>A (p.Phe159Leu) c.6777T>A (p.Phe2259Leu) | |
X | g.154860455dup | CA2695237123 | F8 | c.6882dup (p.Gln2295SerfsTer?) c.615dup (p.Gln206SerfsTer?) c.477dup (p.Gln160SerfsTer?) c.6777dup (p.Gln2260SerfsTer?) | |
X | g.154860455del | CA2695237124 | F8 | c.6882del (p.Gln2295ArgfsTer5) c.615del (p.Gln206ArgfsTer5) c.477del (p.Gln160ArgfsTer5) c.6777del (p.Gln2260ArgfsTer5) | |
X | g.154860454_154860455del | CA2695237125 | F8 | c.6881_6882del (p.Phe2294SerfsTer?) c.614_615del (p.Phe205SerfsTer?) c.476_477del (p.Phe159SerfsTer?) c.6776_6777del (p.Phe2259SerfsTer?) | |
X | g.154860452_154860455del | CA2466814980 | F8 | c.6879_6882del (p.Phe2294ArgfsTer5) c.612_615del (p.Phe205ArgfsTer5) c.474_477del (p.Phe159ArgfsTer5) c.6774_6777del (p.Phe2259ArgfsTer5) | dbSNP |
X | g.154860451A>C | CA414903040 | F8 | c.6881T>G (p.Phe2294Cys) c.614T>G (p.Phe205Cys) c.476T>G (p.Phe159Cys) c.6776T>G (p.Phe2259Cys) |