Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154860421_154860422delinsGA | CA2466814968 | F8 | c.6900+10_6900+11delinsTC (n.6900+10_6900+11delinsTC) c.633+10_633+11delinsTC (n.633+10_633+11delinsTC) c.495+10_495+11delinsTC (n.495+10_495+11delinsTC) c.6795+10_6795+11delinsTC (n.6795+10_6795+11delinsTC) | |
X | g.154860422del | CA2466814969 | F8 | c.6900+10del (n.6900+10del) c.633+10del (n.633+10del) c.495+10del (n.495+10del) c.6795+10del (n.6795+10del) | dbSNP |
X | g.154860422A= | CA2466814970 | F8 | c.6900+10T= (n.6900+10T=) c.633+10T= (n.633+10T=) c.495+10T= (n.495+10T=) c.6795+10T= (n.6795+10T=) | |
X | g.154860422A>T | CA645238389 | F8 | c.6900+10T>A (n.6900+10T>A) c.633+10T>A (n.633+10T>A) c.495+10T>A (n.495+10T>A) c.6795+10T>A (n.6795+10T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154860426G>A | CA2466814972 | F8 | c.6900+6C>T (n.6900+6C>T) c.633+6C>T (n.633+6C>T) c.495+6C>T (n.495+6C>T) c.6795+6C>T (n.6795+6C>T) | dbSNP gnomAD v4 |
X | g.154860426G>C | CA2466814973 | F8 | c.6900+6C>G (n.6900+6C>G) c.633+6C>G (n.633+6C>G) c.495+6C>G (n.495+6C>G) c.6795+6C>G (n.6795+6C>G) | dbSNP gnomAD v4 |
X | g.154860426G= | CA2466814971 | F8 | c.6900+6C= (n.6900+6C=) c.633+6C= (n.633+6C=) c.495+6C= (n.495+6C=) c.6795+6C= (n.6795+6C=) | |
X | g.154860430A>C | CA414902780 | F8 | c.6900+2T>G (n.6900+2T>G) c.633+2T>G (n.633+2T>G) c.495+2T>G (n.495+2T>G) c.6795+2T>G (n.6795+2T>G) | |
X | g.154860430A>G | CA414902781 | F8 | c.6900+2T>C (n.6900+2T>C) c.633+2T>C (n.633+2T>C) c.495+2T>C (n.495+2T>C) c.6795+2T>C (n.6795+2T>C) | |
X | g.154860430A>T | CA414902784 | F8 | c.6900+2T>A (n.6900+2T>A) c.633+2T>A (n.633+2T>A) c.495+2T>A (n.495+2T>A) c.6795+2T>A (n.6795+2T>A) | |
X | g.154860431C>A | CA414902799 | F8 | c.6900+1G>T (n.6900+1G>T) c.633+1G>T (n.633+1G>T) c.495+1G>T (n.495+1G>T) c.6795+1G>T (n.6795+1G>T) | |
X | g.154860431C= | CA2466814974 | F8 | c.6900+1G= (n.6900+1G=) c.633+1G= (n.633+1G=) c.495+1G= (n.495+1G=) c.6795+1G= (n.6795+1G=) | |
X | g.154860431C>G | CA414902802 | F8 | c.6900+1G>C (n.6900+1G>C) c.633+1G>C (n.633+1G>C) c.495+1G>C (n.495+1G>C) c.6795+1G>C (n.6795+1G>C) | ClinVar |
X | g.154860431C>T | CA414902808 | F8 | c.6900+1G>A (n.6900+1G>A) c.633+1G>A (n.633+1G>A) c.495+1G>A (n.495+1G>A) c.6795+1G>A (n.6795+1G>A) | dbSNP gnomAD v4 |
X | g.154860432C>A | CA414902814 | F8 | c.6900G>T (p.Lys2300Asn) c.633G>T (p.Lys211Asn) c.495G>T (p.Lys165Asn) c.6795G>T (p.Lys2265Asn) | |
X | g.154860432C>G | CA414902815 | F8 | c.6900G>C (p.Lys2300Asn) c.633G>C (p.Lys211Asn) c.495G>C (p.Lys165Asn) c.6795G>C (p.Lys2265Asn) | |
X | g.154860432C>T | CA519356028 | F8 | c.6900G>A (p.Lys2300=) c.633G>A (p.Lys211=) c.495G>A (p.Lys165=) c.6795G>A (p.Lys2265=) | gnomAD v4 |
X | g.154860433T>A | CA414902816 | F8 | c.6899A>T (p.Lys2300Met) c.632A>T (p.Lys211Met) c.494A>T (p.Lys165Met) c.6794A>T (p.Lys2265Met) | |
X | g.154860433T>C | CA10567751 | F8 | c.6899A>G (p.Lys2300Arg) c.632A>G (p.Lys211Arg) c.494A>G (p.Lys165Arg) c.6794A>G (p.Lys2265Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154860433T>G | CA414902821 | F8 | c.6899A>C (p.Lys2300Thr) c.632A>C (p.Lys211Thr) c.494A>C (p.Lys165Thr) c.6794A>C (p.Lys2265Thr) | |
X | g.154860433T= | CA2466814975 | F8 | c.6899A= (p.Lys2300=) c.632A= (p.Lys211=) c.494A= (p.Lys165=) c.6794A= (p.Lys2265=) | |
X | g.154860434_154860435dup | CA2695237119 | F8 | c.6898_6899dup (p.Val2301ArgfsTer14) c.631_632dup (p.Val212ArgfsTer14) c.493_494dup (p.Val166ArgfsTer14) c.6793_6794dup (p.Val2266ArgfsTer14) | |
X | g.154860434T>A | CA414902838 | F8 | c.6898A>T (p.Lys2300Ter) c.631A>T (p.Lys211Ter) c.493A>T (p.Lys165Ter) c.6793A>T (p.Lys2265Ter) | |
X | g.154860434T>C | CA414902843 | F8 | c.6898A>G (p.Lys2300Glu) c.631A>G (p.Lys211Glu) c.493A>G (p.Lys165Glu) c.6793A>G (p.Lys2265Glu) | |
X | g.154860434T>G | CA414902825 | F8 | c.6898A>C (p.Lys2300Gln) c.631A>C (p.Lys211Gln) c.493A>C (p.Lys165Gln) c.6793A>C (p.Lys2265Gln) | |
X | g.154860435T>A | CA519356034 | F8 | c.6897A>T (p.Val2299=) c.630A>T (p.Val210=) c.492A>T (p.Val164=) c.6792A>T (p.Val2264=) | |
X | g.154860435T>C | CA519356033 | F8 | c.6897A>G (p.Val2299=) c.630A>G (p.Val210=) c.492A>G (p.Val164=) c.6792A>G (p.Val2264=) | |
X | g.154860435T>G | CA519356032 | F8 | c.6897A>C (p.Val2299=) c.630A>C (p.Val210=) c.492A>C (p.Val164=) c.6792A>C (p.Val2264=) | |
X | g.154860436A>C | CA414902856 | F8 | c.6896T>G (p.Val2299Gly) c.629T>G (p.Val210Gly) c.491T>G (p.Val164Gly) c.6791T>G (p.Val2264Gly) | |
X | g.154860436A>G | CA414902847 | F8 | c.6896T>C (p.Val2299Ala) c.629T>C (p.Val210Ala) c.491T>C (p.Val164Ala) c.6791T>C (p.Val2264Ala) | |
X | g.154860436A>T | CA414902852 | F8 | c.6896T>A (p.Val2299Glu) c.629T>A (p.Val210Glu) c.491T>A (p.Val164Glu) c.6791T>A (p.Val2264Glu) | |
X | g.154860437C>A | CA414902859 | F8 | c.6895G>T (p.Val2299Leu) c.628G>T (p.Val210Leu) c.490G>T (p.Val164Leu) c.6790G>T (p.Val2264Leu) | |
X | g.154860437C>G | CA414902863 | F8 | c.6895G>C (p.Val2299Leu) c.628G>C (p.Val210Leu) c.490G>C (p.Val164Leu) c.6790G>C (p.Val2264Leu) | |
X | g.154860437C>T | CA414902864 | F8 | c.6895G>A (p.Val2299Ile) c.628G>A (p.Val210Ile) c.490G>A (p.Val164Ile) c.6790G>A (p.Val2264Ile) | |
X | g.154860437_154860438insGTT | CA2695237121 | F8 | c.6894_6895insAAC (p.Lys2298_Val2299insAsn) c.627_628insAAC (p.Lys209_Val210insAsn) c.489_490insAAC (p.Lys163_Val164insAsn) c.6789_6790insAAC (p.Lys2263_Val2264insAsn) | |
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.154860443dup | CA2842820828 | F8 | c.6890dup (p.Lys2298GlnfsTer?) c.623dup (p.Lys209GlnfsTer?) c.485dup (p.Lys163GlnfsTer?) c.6785dup (p.Lys2263GlnfsTer?) | |
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) | |
X | g.154860451A>G | CA414903043 | F8 | c.6881T>C (p.Phe2294Ser) c.614T>C (p.Phe205Ser) c.476T>C (p.Phe159Ser) c.6776T>C (p.Phe2259Ser) | |
X | g.154860451A>T | CA414903046 | F8 | c.6881T>A (p.Phe2294Tyr) c.614T>A (p.Phe205Tyr) c.476T>A (p.Phe159Tyr) c.6776T>A (p.Phe2259Tyr) | |
X | g.154860452A>C | CA414903050 | F8 | c.6880T>G (p.Phe2294Val) c.613T>G (p.Phe205Val) c.475T>G (p.Phe159Val) c.6775T>G (p.Phe2259Val) | |
X | g.154860452A>G | CA414903059 | F8 | c.6880T>C (p.Phe2294Leu) c.613T>C (p.Phe205Leu) c.475T>C (p.Phe159Leu) c.6775T>C (p.Phe2259Leu) | |
X | g.154860452A>T | CA414903055 | F8 | c.6880T>A (p.Phe2294Ile) c.613T>A (p.Phe205Ile) c.475T>A (p.Phe159Ile) c.6775T>A (p.Phe2259Ile) | |
X | g.154860453A>C | CA414903070 | F8 | c.6879T>G (p.Phe2293Leu) c.612T>G (p.Phe204Leu) c.474T>G (p.Phe158Leu) c.6774T>G (p.Phe2258Leu) | |
X | g.154860453A>G | CA519356047 | F8 | c.6879T>C (p.Phe2293=) c.612T>C (p.Phe204=) c.474T>C (p.Phe158=) c.6774T>C (p.Phe2258=) | |
X | g.154860453A>T | CA414903076 | F8 | c.6879T>A (p.Phe2293Leu) c.612T>A (p.Phe204Leu) c.474T>A (p.Phe158Leu) c.6774T>A (p.Phe2258Leu) | |
X | g.154860454A>C | CA414903083 | F8 | c.6878T>G (p.Phe2293Cys) c.611T>G (p.Phe204Cys) c.473T>G (p.Phe158Cys) c.6773T>G (p.Phe2258Cys) | gnomAD v4 |
X | g.154860454A>G | CA414903086 | F8 | c.6878T>C (p.Phe2293Ser) c.611T>C (p.Phe204Ser) c.473T>C (p.Phe158Ser) c.6773T>C (p.Phe2258Ser) | |
X | g.154860454A>T | CA414903090 | F8 | c.6878T>A (p.Phe2293Tyr) c.611T>A (p.Phe204Tyr) c.473T>A (p.Phe158Tyr) c.6773T>A (p.Phe2258Tyr) | |
X | g.154860454_154860456delinsAAG | CA2466814981 | F8 | c.6876_6878delinsCTT (p.Leu2292=) c.609_611delinsCTT (p.Leu203=) c.471_473delinsCTT (p.Leu157=) c.6771_6773delinsCTT (p.Leu2257=) | |
X | g.154860455A>C | CA414903091 | F8 | c.6877T>G (p.Phe2293Val) c.610T>G (p.Phe204Val) c.472T>G (p.Phe158Val) c.6772T>G (p.Phe2258Val) | |
X | g.154860455A>G | CA414903092 | F8 | c.6877T>C (p.Phe2293Leu) c.610T>C (p.Phe204Leu) c.472T>C (p.Phe158Leu) c.6772T>C (p.Phe2258Leu) | |
X | g.154860455A>T | CA414903094 | F8 | c.6877T>A (p.Phe2293Ile) c.610T>A (p.Phe204Ile) c.472T>A (p.Phe158Ile) c.6772T>A (p.Phe2258Ile) | |
X | g.154860459_154860460del | CA873368227 | F8 | c.6876_6877del (p.Phe2294SerfsTer?) c.609_610del (p.Phe205SerfsTer?) c.471_472del (p.Phe159SerfsTer?) c.6771_6772del (p.Phe2259SerfsTer?) | ClinVar dbSNP |
X | g.154860456G>A | CA519356049 | F8 | c.6876C>T (p.Leu2292=) c.609C>T (p.Leu203=) c.471C>T (p.Leu157=) c.6771C>T (p.Leu2257=) | gnomAD v4 |
X | g.154860456G>C | CA519356051 | F8 | c.6876C>G (p.Leu2292=) c.609C>G (p.Leu203=) c.471C>G (p.Leu157=) c.6771C>G (p.Leu2257=) | dbSNP |
X | g.154860456G= | CA2466814982 | F8 | c.6876C= (p.Leu2292=) c.609C= (p.Leu203=) c.471C= (p.Leu157=) c.6771C= (p.Leu2257=) | |
X | g.154860456G>T | CA519356050 | F8 | c.6876C>A (p.Leu2292=) c.609C>A (p.Leu203=) c.471C>A (p.Leu157=) c.6771C>A (p.Leu2257=) | |
X | g.154860457A>C | CA414903100 | F8 | c.6875T>G (p.Leu2292Arg) c.608T>G (p.Leu203Arg) c.470T>G (p.Leu157Arg) c.6770T>G (p.Leu2257Arg) | |
X | g.154860457A>G | CA414903103 | F8 | c.6875T>C (p.Leu2292Pro) c.608T>C (p.Leu203Pro) c.470T>C (p.Leu157Pro) c.6770T>C (p.Leu2257Pro) | |
X | g.154860457A>T | CA414903106 | F8 | c.6875T>A (p.Leu2292His) c.608T>A (p.Leu203His) c.470T>A (p.Leu157His) c.6770T>A (p.Leu2257His) | |
X | g.154860458G>A | CA414903125 | F8 | c.6874C>T (p.Leu2292Phe) c.607C>T (p.Leu203Phe) c.469C>T (p.Leu157Phe) c.6769C>T (p.Leu2257Phe) | |
X | g.154860458G>C | CA414903127 | F8 | c.6874C>G (p.Leu2292Val) c.607C>G (p.Leu203Val) c.469C>G (p.Leu157Val) c.6769C>G (p.Leu2257Val) | gnomAD v4 |
X | g.154860458G>T | CA414903120 | F8 | c.6874C>A (p.Leu2292Ile) c.607C>A (p.Leu203Ile) c.469C>A (p.Leu157Ile) c.6769C>A (p.Leu2257Ile) | |
X | g.154860459A>C | CA519356053 | F8 | c.6873T>G (p.Thr2291=) c.606T>G (p.Thr202=) c.468T>G (p.Thr156=) c.6768T>G (p.Thr2256=) | |
X | g.154860459A>G | CA519356054 | F8 | c.6873T>C (p.Thr2291=) c.606T>C (p.Thr202=) c.468T>C (p.Thr156=) c.6768T>C (p.Thr2256=) | |
X | g.154860459A>T | CA519356055 | F8 | c.6873T>A (p.Thr2291=) c.606T>A (p.Thr202=) c.468T>A (p.Thr156=) c.6768T>A (p.Thr2256=) | |
X | g.154860460G>A | CA414903134 | F8 | c.6872C>T (p.Thr2291Ile) c.605C>T (p.Thr202Ile) c.467C>T (p.Thr156Ile) c.6767C>T (p.Thr2256Ile) | |
X | g.154860460G>C | CA414903130 | F8 | c.6872C>G (p.Thr2291Ser) c.605C>G (p.Thr202Ser) c.467C>G (p.Thr156Ser) c.6767C>G (p.Thr2256Ser) | |
X | g.154860460G>T | CA414903137 | F8 | c.6872C>A (p.Thr2291Asn) c.605C>A (p.Thr202Asn) c.467C>A (p.Thr156Asn) c.6767C>A (p.Thr2256Asn) | |
X | g.154860461T>A | CA414903141 | F8 | c.6871A>T (p.Thr2291Ser) c.604A>T (p.Thr202Ser) c.466A>T (p.Thr156Ser) c.6766A>T (p.Thr2256Ser) | |
X | g.154860461T>C | CA10567753 | F8 | c.6871A>G (p.Thr2291Ala) c.604A>G (p.Thr202Ala) c.466A>G (p.Thr156Ala) c.6766A>G (p.Thr2256Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154860461T>G | CA414903144 | F8 | c.6871A>C (p.Thr2291Pro) c.604A>C (p.Thr202Pro) c.466A>C (p.Thr156Pro) c.6766A>C (p.Thr2256Pro) | |
X | g.154860461T= | CA2466814983 | F8 | c.6871A= (p.Thr2291=) c.604A= (p.Thr202=) c.466A= (p.Thr156=) c.6766A= (p.Thr2256=) | |
X | g.154860462C>A | CA414903147 | F8 | c.6870G>T (p.Trp2290Cys) c.603G>T (p.Trp201Cys) c.465G>T (p.Trp155Cys) c.6765G>T (p.Trp2255Cys) | |
X | g.154860462C>G | CA414903150 | F8 | c.6870G>C (p.Trp2290Cys) c.603G>C (p.Trp201Cys) c.465G>C (p.Trp155Cys) c.6765G>C (p.Trp2255Cys) | |
X | g.154860462C>T | CA414903151 | F8 | c.6870G>A (p.Trp2290Ter) c.603G>A (p.Trp201Ter) c.465G>A (p.Trp155Ter) c.6765G>A (p.Trp2255Ter) | |
X | g.154860463C>A | CA414903154 | F8 | c.6869G>T (p.Trp2290Leu) c.602G>T (p.Trp201Leu) c.464G>T (p.Trp155Leu) c.6764G>T (p.Trp2255Leu) | |
X | g.154860463C>G | CA414903157 | F8 | c.6869G>C (p.Trp2290Ser) c.602G>C (p.Trp201Ser) c.464G>C (p.Trp155Ser) c.6764G>C (p.Trp2255Ser) | |
X | g.154860463C>T | CA414903162 | F8 | c.6869G>A (p.Trp2290Ter) c.602G>A (p.Trp201Ter) c.464G>A (p.Trp155Ter) c.6764G>A (p.Trp2255Ter) | |
X | g.154860464A= | CA2466814984 | F8 | c.6868T= (p.Trp2290=) c.601T= (p.Trp201=) c.463T= (p.Trp155=) c.6763T= (p.Trp2255=) | |
X | g.154860464A>C | CA414903172 | F8 | c.6868T>G (p.Trp2290Gly) c.601T>G (p.Trp201Gly) c.463T>G (p.Trp155Gly) c.6763T>G (p.Trp2255Gly) | |
X | g.154860464A>G | CA414903181 | F8 | c.6868T>C (p.Trp2290Arg) c.601T>C (p.Trp201Arg) c.463T>C (p.Trp155Arg) c.6763T>C (p.Trp2255Arg) | ClinVar dbSNP |
X | g.154860464A>T | CA414903186 | F8 | c.6868T>A (p.Trp2290Arg) c.601T>A (p.Trp201Arg) c.463T>A (p.Trp155Arg) c.6763T>A (p.Trp2255Arg) | |
X | g.154860465C>A | CA414903191 | F8 | c.6867G>T (p.Gln2289His) c.600G>T (p.Gln200His) c.462G>T (p.Gln154His) c.6762G>T (p.Gln2254His) | |
X | g.154860465C>G | CA414903198 | F8 | c.6867G>C (p.Gln2289His) c.600G>C (p.Gln200His) c.462G>C (p.Gln154His) c.6762G>C (p.Gln2254His) | |
X | g.154860465C>T | CA519356059 | F8 | c.6867G>A (p.Gln2289=) c.600G>A (p.Gln200=) c.462G>A (p.Gln154=) c.6762G>A (p.Gln2254=) | |
X | g.154860467_154860477del | CA2695237126 | F8 | c.6857_6867del (p.Asp2286ValfsTer?) c.590_600del (p.Asp197ValfsTer?) c.452_462del (p.Asp151ValfsTer?) c.6752_6762del (p.Asp2251ValfsTer?) | |
X | g.154860466T>A | CA414903209 | F8 | c.6866A>T (p.Gln2289Leu) c.599A>T (p.Gln200Leu) c.461A>T (p.Gln154Leu) c.6761A>T (p.Gln2254Leu) | |
X | g.154860466T>C | CA414903210 | F8 | c.6866A>G (p.Gln2289Arg) c.599A>G (p.Gln200Arg) c.461A>G (p.Gln154Arg) c.6761A>G (p.Gln2254Arg) | gnomAD v4 |
X | g.154860466T>G | CA414903213 | F8 | c.6866A>C (p.Gln2289Pro) c.599A>C (p.Gln200Pro) c.461A>C (p.Gln154Pro) c.6761A>C (p.Gln2254Pro) | |
X | g.154860467G>A | CA255221 | F8 | c.6865C>T (p.Gln2289Ter) c.598C>T (p.Gln200Ter) c.460C>T (p.Gln154Ter) c.6760C>T (p.Gln2254Ter) | ClinVar dbSNP |
X | g.154860467G>C | CA414903222 | F8 | c.6865C>G (p.Gln2289Glu) c.598C>G (p.Gln200Glu) c.460C>G (p.Gln154Glu) c.6760C>G (p.Gln2254Glu) | dbSNP |
X | g.154860467G= | CA2466814985 | F8 | c.6865C= (p.Gln2289=) c.598C= (p.Gln200=) c.460C= (p.Gln154=) c.6760C= (p.Gln2254=) | |
X | g.154860467G>T | CA414903229 | F8 | c.6865C>A (p.Gln2289Lys) c.598C>A (p.Gln200Lys) c.460C>A (p.Gln154Lys) c.6760C>A (p.Gln2254Lys) | |
X | g.154860468A>C | CA414903236 | F8 | c.6864T>G (p.His2288Gln) c.597T>G (p.His199Gln) c.459T>G (p.His153Gln) c.6759T>G (p.His2253Gln) | |
X | g.154860468A>G | CA519356064 | F8 | c.6864T>C (p.His2288=) c.597T>C (p.His199=) c.459T>C (p.His153=) c.6759T>C (p.His2253=) | |
X | g.154860468A>T | CA414903244 | F8 | c.6864T>A (p.His2288Gln) c.597T>A (p.His199Gln) c.459T>A (p.His153Gln) c.6759T>A (p.His2253Gln) | |
X | g.154860469T>A | CA414903258 | F8 | c.6863A>T (p.His2288Leu) c.596A>T (p.His199Leu) c.458A>T (p.His153Leu) c.6758A>T (p.His2253Leu) | |
X | g.154860469T>C | CA414903263 | F8 | c.6863A>G (p.His2288Arg) c.596A>G (p.His199Arg) c.458A>G (p.His153Arg) c.6758A>G (p.His2253Arg) | |
X | g.154860469T>G | CA414903269 | F8 | c.6863A>C (p.His2288Pro) c.596A>C (p.His199Pro) c.458A>C (p.His153Pro) c.6758A>C (p.His2253Pro) | |
X | g.154860470G>A | CA414903286 | F8 | c.6862C>T (p.His2288Tyr) c.595C>T (p.His199Tyr) c.457C>T (p.His153Tyr) c.6757C>T (p.His2253Tyr) | dbSNP gnomAD v4 |
X | g.154860470G>C | CA414903282 | F8 | c.6862C>G (p.His2288Asp) c.595C>G (p.His199Asp) c.457C>G (p.His153Asp) c.6757C>G (p.His2253Asp) | |
X | g.154860470G= | CA2466814986 | F8 | c.6862C= (p.His2288=) c.595C= (p.His199=) c.457C= (p.His153=) c.6757C= (p.His2253=) | |
X | g.154860470G>T | CA414903275 | F8 | c.6862C>A (p.His2288Asn) c.595C>A (p.His199Asn) c.457C>A (p.His153Asn) c.6757C>A (p.His2253Asn) | |
X | g.154860471del | CA2695237127 | F8 | c.6862del (p.His2288IlefsTer12) c.595del (p.His199IlefsTer12) c.457del (p.His153IlefsTer12) c.6757del (p.His2253IlefsTer12) | |
X | g.154860471G>A | CA519356070 | F8 | c.6861C>T (p.Gly2287=) c.594C>T (p.Gly198=) c.456C>T (p.Gly152=) c.6756C>T (p.Gly2252=) | gnomAD v4 COSMIC COSMIC |
X | g.154860471G>C | CA519356067 | F8 | c.6861C>G (p.Gly2287=) c.594C>G (p.Gly198=) c.456C>G (p.Gly152=) c.6756C>G (p.Gly2252=) | gnomAD v4 |
X | g.154860471G>T | CA519356069 | F8 | c.6861C>A (p.Gly2287=) c.594C>A (p.Gly198=) c.456C>A (p.Gly152=) c.6756C>A (p.Gly2252=) | |
X | g.154860472C>A | CA414903301 | F8 | c.6860G>T (p.Gly2287Val) c.593G>T (p.Gly198Val) c.455G>T (p.Gly152Val) c.6755G>T (p.Gly2252Val) | |
X | g.154860472C>G | CA414903293 | F8 | c.6860G>C (p.Gly2287Ala) c.593G>C (p.Gly198Ala) c.455G>C (p.Gly152Ala) c.6755G>C (p.Gly2252Ala) | |
X | g.154860472C>T | CA414903300 | F8 | c.6860G>A (p.Gly2287Asp) c.593G>A (p.Gly198Asp) c.455G>A (p.Gly152Asp) c.6755G>A (p.Gly2252Asp) | |
X | g.154860473C>A | CA414903302 | F8 | c.6859G>T (p.Gly2287Cys) c.592G>T (p.Gly198Cys) c.454G>T (p.Gly152Cys) c.6754G>T (p.Gly2252Cys) | |
X | g.154860473C>G | CA414903305 | F8 | c.6859G>C (p.Gly2287Arg) c.592G>C (p.Gly198Arg) c.454G>C (p.Gly152Arg) c.6754G>C (p.Gly2252Arg) | |
X | g.154860473C>T | CA414903313 | F8 | c.6859G>A (p.Gly2287Ser) c.592G>A (p.Gly198Ser) c.454G>A (p.Gly152Ser) c.6754G>A (p.Gly2252Ser) | |
X | g.154860474A>C | CA414903317 | F8 | c.6858T>G (p.Asp2286Glu) c.591T>G (p.Asp197Glu) c.453T>G (p.Asp151Glu) c.6753T>G (p.Asp2251Glu) | |
X | g.154860474A>G | CA519356072 | F8 | c.6858T>C (p.Asp2286=) c.591T>C (p.Asp197=) c.453T>C (p.Asp151=) c.6753T>C (p.Asp2251=) | |
X | g.154860474A>T | CA414903321 | F8 | c.6858T>A (p.Asp2286Glu) c.591T>A (p.Asp197Glu) c.453T>A (p.Asp151Glu) c.6753T>A (p.Asp2251Glu) | |
X | g.154860475T>A | CA414903324 | F8 | c.6857A>T (p.Asp2286Val) c.590A>T (p.Asp197Val) c.452A>T (p.Asp151Val) c.6752A>T (p.Asp2251Val) | dbSNP |
X | g.154860475T>C | CA414903332 | F8 | c.6857A>G (p.Asp2286Gly) c.590A>G (p.Asp197Gly) c.452A>G (p.Asp151Gly) c.6752A>G (p.Asp2251Gly) | |
X | g.154860475T>G | CA414903336 | F8 | c.6857A>C (p.Asp2286Ala) c.590A>C (p.Asp197Ala) c.452A>C (p.Asp151Ala) c.6752A>C (p.Asp2251Ala) | |
X | g.154860475T= | CA2466814987 | F8 | c.6857A= (p.Asp2286=) c.590A= (p.Asp197=) c.452A= (p.Asp151=) c.6752A= (p.Asp2251=) | |
X | g.154860476C>A | CA414903341 | F8 | c.6856G>T (p.Asp2286Tyr) c.589G>T (p.Asp197Tyr) c.451G>T (p.Asp151Tyr) c.6751G>T (p.Asp2251Tyr) | |
X | g.154860476C>G | CA414903346 | F8 | c.6856G>C (p.Asp2286His) c.589G>C (p.Asp197His) c.451G>C (p.Asp151His) c.6751G>C (p.Asp2251His) | |
X | g.154860476C>T | CA414903354 | F8 | c.6856G>A (p.Asp2286Asn) c.589G>A (p.Asp197Asn) c.451G>A (p.Asp151Asn) c.6751G>A (p.Asp2251Asn) | gnomAD v4 |
X | g.154860477T>A | CA414903368 | F8 | c.6855A>T (p.Gln2285His) c.588A>T (p.Gln196His) c.450A>T (p.Gln150His) c.6750A>T (p.Gln2250His) | |
X | g.154860477T>C | CA519356083 | F8 | c.6855A>G (p.Gln2285=) c.588A>G (p.Gln196=) c.450A>G (p.Gln150=) c.6750A>G (p.Gln2250=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154860477T>G | CA414903370 | F8 | c.6855A>C (p.Gln2285His) c.588A>C (p.Gln196His) c.450A>C (p.Gln150His) c.6750A>C (p.Gln2250His) | |
X | g.154860477T= | CA2466814988 | F8 | c.6855A= (p.Gln2285=) c.588A= (p.Gln196=) c.450A= (p.Gln150=) c.6750A= (p.Gln2250=) | |
X | g.154860478T>A | CA414903373 | F8 | c.6854A>T (p.Gln2285Leu) c.587A>T (p.Gln196Leu) c.449A>T (p.Gln150Leu) c.6749A>T (p.Gln2250Leu) | |
X | g.154860478T>C | CA414903374 | F8 | c.6854A>G (p.Gln2285Arg) c.587A>G (p.Gln196Arg) c.449A>G (p.Gln150Arg) c.6749A>G (p.Gln2250Arg) | |
X | g.154860478T>G | CA414903375 | F8 | c.6854A>C (p.Gln2285Pro) c.587A>C (p.Gln196Pro) c.449A>C (p.Gln150Pro) c.6749A>C (p.Gln2250Pro) | |
X | g.154860479G>A | CA414903379 | F8 | c.6853C>T (p.Gln2285Ter) c.586C>T (p.Gln196Ter) c.448C>T (p.Gln150Ter) c.6748C>T (p.Gln2250Ter) | |
X | g.154860479G>C | CA414903384 | F8 | c.6853C>G (p.Gln2285Glu) c.586C>G (p.Gln196Glu) c.448C>G (p.Gln150Glu) c.6748C>G (p.Gln2250Glu) | |
X | g.154860479G>T | CA414903389 | F8 | c.6853C>A (p.Gln2285Lys) c.586C>A (p.Gln196Lys) c.448C>A (p.Gln150Lys) c.6748C>A (p.Gln2250Lys) | COSMIC COSMIC |
X | g.154860480A>C | CA414903393 | F8 | c.6852T>G (p.Ser2284Arg) c.585T>G (p.Ser195Arg) c.447T>G (p.Ser149Arg) c.6747T>G (p.Ser2249Arg) | |
X | g.154860480A>G | CA519356089 | F8 | c.6852T>C (p.Ser2284=) c.585T>C (p.Ser195=) c.447T>C (p.Ser149=) c.6747T>C (p.Ser2249=) | |
X | g.154860480A>T | CA414903394 | F8 | c.6852T>A (p.Ser2284Arg) c.585T>A (p.Ser195Arg) c.447T>A (p.Ser149Arg) c.6747T>A (p.Ser2249Arg) | COSMIC COSMIC |
X | g.154860481C>A | CA414903395 | F8 | c.6851G>T (p.Ser2284Ile) c.584G>T (p.Ser195Ile) c.446G>T (p.Ser149Ile) c.6746G>T (p.Ser2249Ile) | |
X | g.154860481C>G | CA414903398 | F8 | c.6851G>C (p.Ser2284Thr) c.584G>C (p.Ser195Thr) c.446G>C (p.Ser149Thr) c.6746G>C (p.Ser2249Thr) | |
X | g.154860481C>T | CA414903401 | F8 | c.6851G>A (p.Ser2284Asn) c.584G>A (p.Ser195Asn) c.446G>A (p.Ser149Asn) c.6746G>A (p.Ser2249Asn) | |
X | g.154860482T>A | CA414903410 | F8 | c.6850A>T (p.Ser2284Cys) c.583A>T (p.Ser195Cys) c.445A>T (p.Ser149Cys) c.6745A>T (p.Ser2249Cys) | |
X | g.154860482T>C | CA414903413 | F8 | c.6850A>G (p.Ser2284Gly) c.583A>G (p.Ser195Gly) c.445A>G (p.Ser149Gly) c.6745A>G (p.Ser2249Gly) | |
X | g.154860482T>G | CA414903408 | F8 | c.6850A>C (p.Ser2284Arg) c.583A>C (p.Ser195Arg) c.445A>C (p.Ser149Arg) c.6745A>C (p.Ser2249Arg) | |
X | g.154860483G>A | CA519356091 | F8 | c.6849C>T (p.Ser2283=) c.582C>T (p.Ser194=) c.444C>T (p.Ser148=) c.6744C>T (p.Ser2248=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154860483G>C | CA414903414 | F8 | c.6849C>G (p.Ser2283Arg) c.582C>G (p.Ser194Arg) c.444C>G (p.Ser148Arg) c.6744C>G (p.Ser2248Arg) | |
X | g.154860483G= | CA2466814989 | F8 | c.6849C= (p.Ser2283=) c.582C= (p.Ser194=) c.444C= (p.Ser148=) c.6744C= (p.Ser2248=) | |
X | g.154860483G>T | CA414903415 | F8 | c.6849C>A (p.Ser2283Arg) c.582C>A (p.Ser194Arg) c.444C>A (p.Ser148Arg) c.6744C>A (p.Ser2248Arg) | gnomAD v4 |
X | g.154860484C>A | CA414903418 | F8 | c.6848G>T (p.Ser2283Ile) c.581G>T (p.Ser194Ile) c.443G>T (p.Ser148Ile) c.6743G>T (p.Ser2248Ile) | |
X | g.154860484C>G | CA414903420 | F8 | c.6848G>C (p.Ser2283Thr) c.581G>C (p.Ser194Thr) c.443G>C (p.Ser148Thr) c.6743G>C (p.Ser2248Thr) | |
X | g.154860484C>T | CA414903423 | F8 | c.6848G>A (p.Ser2283Asn) c.581G>A (p.Ser194Asn) c.443G>A (p.Ser148Asn) c.6743G>A (p.Ser2248Asn) | COSMIC COSMIC |
X | g.154860485T>A | CA414903426 | F8 | c.6847A>T (p.Ser2283Cys) c.580A>T (p.Ser194Cys) c.442A>T (p.Ser148Cys) c.6742A>T (p.Ser2248Cys) | |
X | g.154860485T>C | CA414903427 | F8 | c.6847A>G (p.Ser2283Gly) c.580A>G (p.Ser194Gly) c.442A>G (p.Ser148Gly) c.6742A>G (p.Ser2248Gly) | |
X | g.154860485T>G | CA414903429 | F8 | c.6847A>C (p.Ser2283Arg) c.580A>C (p.Ser194Arg) c.442A>C (p.Ser148Arg) c.6742A>C (p.Ser2248Arg) | |
X | g.154860486G>A | CA519356096 | F8 | c.6846C>T (p.Ser2282=) c.579C>T (p.Ser193=) c.441C>T (p.Ser147=) c.6741C>T (p.Ser2247=) | |
X | g.154860486G>C | CA519356099 | F8 | c.6846C>G (p.Ser2282=) c.579C>G (p.Ser193=) c.441C>G (p.Ser147=) c.6741C>G (p.Ser2247=) | |
X | g.154860486G>T | CA519356102 | F8 | c.6846C>A (p.Ser2282=) c.579C>A (p.Ser193=) c.441C>A (p.Ser147=) c.6741C>A (p.Ser2247=) | |
X | g.154860487del | CA2539880297 | F8 | c.6846del (p.Ser2283AlafsTer17) c.579del (p.Ser194AlafsTer17) c.441del (p.Ser148AlafsTer17) c.6741del (p.Ser2248AlafsTer17) | |
X | g.154860487G>A | CA414903432 | F8 | c.6845C>T (p.Ser2282Phe) c.578C>T (p.Ser193Phe) c.440C>T (p.Ser147Phe) c.6740C>T (p.Ser2247Phe) | dbSNP COSMIC COSMIC |
X | g.154860487G>C | CA414903435 | F8 | c.6845C>G (p.Ser2282Cys) c.578C>G (p.Ser193Cys) c.440C>G (p.Ser147Cys) c.6740C>G (p.Ser2247Cys) | |
X | g.154860487G= | CA2466814990 | F8 | c.6845C= (p.Ser2282=) c.578C= (p.Ser193=) c.440C= (p.Ser147=) c.6740C= (p.Ser2247=) | |
X | g.154860487G>T | CA414903441 | F8 | c.6845C>A (p.Ser2282Tyr) c.578C>A (p.Ser193Tyr) c.440C>A (p.Ser147Tyr) c.6740C>A (p.Ser2247Tyr) | |
X | g.154860488A>C | CA414903449 | F8 | c.6844T>G (p.Ser2282Ala) c.577T>G (p.Ser193Ala) c.439T>G (p.Ser147Ala) c.6739T>G (p.Ser2247Ala) | |
X | g.154860488A>G | CA414903452 | F8 | c.6844T>C (p.Ser2282Pro) c.577T>C (p.Ser193Pro) c.439T>C (p.Ser147Pro) c.6739T>C (p.Ser2247Pro) | |
X | g.154860488A>T | CA414903454 | F8 | c.6844T>A (p.Ser2282Thr) c.577T>A (p.Ser193Thr) c.439T>A (p.Ser147Thr) c.6739T>A (p.Ser2247Thr) | |
X | g.154860489del | CA2695237128 | F8 | c.6843del (p.Ser2282ProfsTer18) c.576del (p.Ser193ProfsTer18) c.438del (p.Ser147ProfsTer18) c.6738del (p.Ser2247ProfsTer18) | |
X | g.154860489G>A | CA519356104 | F8 | c.6843C>T (p.Ile2281=) c.576C>T (p.Ile192=) c.438C>T (p.Ile146=) c.6738C>T (p.Ile2246=) | dbSNP |
X | g.154860489G>C | CA414903456 | F8 | c.6843C>G (p.Ile2281Met) c.576C>G (p.Ile192Met) c.438C>G (p.Ile146Met) c.6738C>G (p.Ile2246Met) | |
X | g.154860489G= | CA2466814991 | F8 | c.6843C= (p.Ile2281=) c.576C= (p.Ile192=) c.438C= (p.Ile146=) c.6738C= (p.Ile2246=) | |
X | g.154860489G>T | CA519356107 | F8 | c.6843C>A (p.Ile2281=) c.576C>A (p.Ile192=) c.438C>A (p.Ile146=) c.6738C>A (p.Ile2246=) | |
X | g.154860490A>C | CA414903460 | F8 | c.6842T>G (p.Ile2281Ser) c.575T>G (p.Ile192Ser) c.437T>G (p.Ile146Ser) c.6737T>G (p.Ile2246Ser) | |
X | g.154860490A>G | CA414903462 | F8 | c.6842T>C (p.Ile2281Thr) c.575T>C (p.Ile192Thr) c.437T>C (p.Ile146Thr) c.6737T>C (p.Ile2246Thr) | |
X | g.154860490A>T | CA414903468 | F8 | c.6842T>A (p.Ile2281Asn) c.575T>A (p.Ile192Asn) c.437T>A (p.Ile146Asn) c.6737T>A (p.Ile2246Asn) | |
X | g.154860491T>A | CA414903479 | F8 | c.6841A>T (p.Ile2281Phe) c.574A>T (p.Ile192Phe) c.436A>T (p.Ile146Phe) c.6736A>T (p.Ile2246Phe) | |
X | g.154860491T>C | CA414903482 | F8 | c.6841A>G (p.Ile2281Val) c.574A>G (p.Ile192Val) c.436A>G (p.Ile146Val) c.6736A>G (p.Ile2246Val) | |
X | g.154860491T>G | CA414903488 | F8 | c.6841A>C (p.Ile2281Leu) c.574A>C (p.Ile192Leu) c.436A>C (p.Ile146Leu) c.6736A>C (p.Ile2246Leu) | |
X | g.154860492G>A | CA519356116 | F8 | c.6840C>T (p.Leu2280=) c.573C>T (p.Leu191=) c.435C>T (p.Leu145=) c.6735C>T (p.Leu2245=) | |
X | g.154860492G>C | CA519356118 | F8 | c.6840C>G (p.Leu2280=) c.573C>G (p.Leu191=) c.435C>G (p.Leu145=) c.6735C>G (p.Leu2245=) | |
X | g.154860492G>T | CA519356119 | F8 | c.6840C>A (p.Leu2280=) c.573C>A (p.Leu191=) c.435C>A (p.Leu145=) c.6735C>A (p.Leu2245=) | |
X | g.154860493A>C | CA414903491 | F8 | c.6839T>G (p.Leu2280Arg) c.572T>G (p.Leu191Arg) c.434T>G (p.Leu145Arg) c.6734T>G (p.Leu2245Arg) | |
X | g.154860493A>G | CA414903492 | F8 | c.6839T>C (p.Leu2280Pro) c.572T>C (p.Leu191Pro) c.434T>C (p.Leu145Pro) c.6734T>C (p.Leu2245Pro) | |
X | g.154860493A>T | CA414903493 | F8 | c.6839T>A (p.Leu2280His) c.572T>A (p.Leu191His) c.434T>A (p.Leu145His) c.6734T>A (p.Leu2245His) | |
X | g.154860494G>A | CA414903496 | F8 | c.6838C>T (p.Leu2280Phe) c.571C>T (p.Leu191Phe) c.433C>T (p.Leu145Phe) c.6733C>T (p.Leu2245Phe) | dbSNP |
X | g.154860494G>C | CA414903499 | F8 | c.6838C>G (p.Leu2280Val) c.571C>G (p.Leu191Val) c.433C>G (p.Leu145Val) c.6733C>G (p.Leu2245Val) | |
X | g.154860494G>T | CA414903502 | F8 | c.6838C>A (p.Leu2280Ile) c.571C>A (p.Leu191Ile) c.433C>A (p.Leu145Ile) c.6733C>A (p.Leu2245Ile) | |
X | g.154860495G>A | CA519356123 | F8 | c.6837C>T (p.Phe2279=) c.570C>T (p.Phe190=) c.432C>T (p.Phe144=) c.6732C>T (p.Phe2244=) | |
X | g.154860495G>C | CA414903506 | F8 | c.6837C>G (p.Phe2279Leu) c.570C>G (p.Phe190Leu) c.432C>G (p.Phe144Leu) c.6732C>G (p.Phe2244Leu) | |
X | g.154860495G= | CA2466814992 | F8 | c.6837C= (p.Phe2279=) c.570C= (p.Phe190=) c.432C= (p.Phe144=) c.6732C= (p.Phe2244=) | |
X | g.154860495G>T | CA414903509 | F8 | c.6837C>A (p.Phe2279Leu) c.570C>A (p.Phe190Leu) c.432C>A (p.Phe144Leu) c.6732C>A (p.Phe2244Leu) | dbSNP |
X | g.154860496A>C | CA414903520 | F8 | c.6836T>G (p.Phe2279Cys) c.569T>G (p.Phe190Cys) c.431T>G (p.Phe144Cys) c.6731T>G (p.Phe2244Cys) | |
X | g.154860496A>G | CA414903521 | F8 | c.6836T>C (p.Phe2279Ser) c.569T>C (p.Phe190Ser) c.431T>C (p.Phe144Ser) c.6731T>C (p.Phe2244Ser) | |
X | g.154860496A>T | CA414903522 | F8 | c.6836T>A (p.Phe2279Tyr) c.569T>A (p.Phe190Tyr) c.431T>A (p.Phe144Tyr) c.6731T>A (p.Phe2244Tyr) | |
X | g.154860497A= | CA2466814993 | F8 | c.6835T= (p.Phe2279=) c.568T= (p.Phe190=) c.430T= (p.Phe144=) c.6730T= (p.Phe2244=) | |
X | g.154860497A>C | CA414903524 | F8 | c.6835T>G (p.Phe2279Val) c.568T>G (p.Phe190Val) c.430T>G (p.Phe144Val) c.6730T>G (p.Phe2244Val) | |
X | g.154860497A>G | CA414903528 | F8 | c.6835T>C (p.Phe2279Leu) c.568T>C (p.Phe190Leu) c.430T>C (p.Phe144Leu) c.6730T>C (p.Phe2244Leu) | |
X | g.154860497A>T | CA10567754 | F8 | c.6835T>A (p.Phe2279Ile) c.568T>A (p.Phe190Ile) c.430T>A (p.Phe144Ile) c.6730T>A (p.Phe2244Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154860498C>A | CA414903540 | F8 | c.6834G>T (p.Glu2278Asp) c.567G>T (p.Glu189Asp) c.429G>T (p.Glu143Asp) c.6729G>T (p.Glu2243Asp) | ClinVar dbSNP |
X | g.154860498C= | CA2466814994 | F8 | c.6834G= (p.Glu2278=) c.567G= (p.Glu189=) c.429G= (p.Glu143=) c.6729G= (p.Glu2243=) | |
X | g.154860498C>G | CA414903543 | F8 | c.6834G>C (p.Glu2278Asp) c.567G>C (p.Glu189Asp) c.429G>C (p.Glu143Asp) c.6729G>C (p.Glu2243Asp) | |
X | g.154860498C>T | CA519356126 | F8 | c.6834G>A (p.Glu2278=) c.567G>A (p.Glu189=) c.429G>A (p.Glu143=) c.6729G>A (p.Glu2243=) | dbSNP gnomAD v4 |
X | g.154860499T>A | CA414903551 | F8 | c.6833A>T (p.Glu2278Val) c.566A>T (p.Glu189Val) c.428A>T (p.Glu143Val) c.6728A>T (p.Glu2243Val) | COSMIC COSMIC |
X | g.154860499T>C | CA414903570 | F8 | c.6833A>G (p.Glu2278Gly) c.566A>G (p.Glu189Gly) c.428A>G (p.Glu143Gly) c.6728A>G (p.Glu2243Gly) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154860499T>G | CA414903575 | F8 | c.6833A>C (p.Glu2278Ala) c.566A>C (p.Glu189Ala) c.428A>C (p.Glu143Ala) c.6728A>C (p.Glu2243Ala) | COSMIC COSMIC |
X | g.154860499T= | CA2466814995 | F8 | c.6833A= (p.Glu2278=) c.566A= (p.Glu189=) c.428A= (p.Glu143=) c.6728A= (p.Glu2243=) | |
X | g.154860500C>A | CA414903610 | F8 | c.6832G>T (p.Glu2278Ter) c.565G>T (p.Glu189Ter) c.427G>T (p.Glu143Ter) c.6727G>T (p.Glu2243Ter) | |
X | g.154860500C= | CA2466814996 | F8 | c.6832G= (p.Glu2278=) c.565G= (p.Glu189=) c.427G= (p.Glu143=) c.6727G= (p.Glu2243=) | |
X | g.154860500C>G | CA337325917 | F8 | c.6832G>C (p.Glu2278Gln) c.565G>C (p.Glu189Gln) c.427G>C (p.Glu143Gln) c.6727G>C (p.Glu2243Gln) | dbSNP gnomAD v4 |
X | g.154860500C>T | CA414903581 | F8 | c.6832G>A (p.Glu2278Lys) c.565G>A (p.Glu189Lys) c.427G>A (p.Glu143Lys) c.6727G>A (p.Glu2243Lys) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154860501C>A | CA414903612 | F8 | c.6831G>T (p.Lys2277Asn) c.564G>T (p.Lys188Asn) c.426G>T (p.Lys142Asn) c.6726G>T (p.Lys2242Asn) | |
X | g.154860501C>G | CA414903613 | F8 | c.6831G>C (p.Lys2277Asn) c.564G>C (p.Lys188Asn) c.426G>C (p.Lys142Asn) c.6726G>C (p.Lys2242Asn) | |
X | g.154860501C>T | CA519356135 | F8 | c.6831G>A (p.Lys2277=) c.564G>A (p.Lys188=) c.426G>A (p.Lys142=) c.6726G>A (p.Lys2242=) | |
X | g.154860502T>A | CA414903619 | F8 | c.6830A>T (p.Lys2277Met) c.563A>T (p.Lys188Met) c.425A>T (p.Lys142Met) c.6725A>T (p.Lys2242Met) | |
X | g.154860502T>C | CA414903626 | F8 | c.6830A>G (p.Lys2277Arg) c.563A>G (p.Lys188Arg) c.425A>G (p.Lys142Arg) c.6725A>G (p.Lys2242Arg) | |
X | g.154860502T>G | CA414903632 | F8 | c.6830A>C (p.Lys2277Thr) c.563A>C (p.Lys188Thr) c.425A>C (p.Lys142Thr) c.6725A>C (p.Lys2242Thr) | gnomAD v4 |
X | g.154860503T>A | CA414903635 | F8 | c.6829A>T (p.Lys2277Ter) c.562A>T (p.Lys188Ter) c.424A>T (p.Lys142Ter) c.6724A>T (p.Lys2242Ter) | |
X | g.154860503T>C | CA414903638 | F8 | c.6829A>G (p.Lys2277Glu) c.562A>G (p.Lys188Glu) c.424A>G (p.Lys142Glu) c.6724A>G (p.Lys2242Glu) | |
X | g.154860503T>G | CA414903646 | F8 | c.6829A>C (p.Lys2277Gln) c.562A>C (p.Lys188Gln) c.424A>C (p.Lys142Gln) c.6724A>C (p.Lys2242Gln) | |
X | g.154860503T= | CA2466814997 | F8 | c.6829A= (p.Lys2277=) c.562A= (p.Lys188=) c.424A= (p.Lys142=) c.6724A= (p.Lys2242=) | |
X | g.154860504C>A | CA519356140 | F8 | c.6828G>T (p.Val2276=) c.561G>T (p.Val187=) c.423G>T (p.Val141=) c.6723G>T (p.Val2241=) | |
X | g.154860504C>G | CA519356141 | F8 | c.6828G>C (p.Val2276=) c.561G>C (p.Val187=) c.423G>C (p.Val141=) c.6723G>C (p.Val2241=) | |
X | g.154860504C>T | CA519356142 | F8 | c.6828G>A (p.Val2276=) c.561G>A (p.Val187=) c.423G>A (p.Val141=) c.6723G>A (p.Val2241=) | gnomAD v4 COSMIC COSMIC |
X | g.154860504dup | CA873368334 | F8 | c.6828dup (p.Lys2277GlufsTer?) c.561dup (p.Lys188GlufsTer?) c.423dup (p.Lys142GlufsTer?) c.6723dup (p.Lys2242GlufsTer?) | dbSNP |
X | g.154860505A>C | CA414903654 | F8 | c.6827T>G (p.Val2276Gly) c.560T>G (p.Val187Gly) c.422T>G (p.Val141Gly) c.6722T>G (p.Val2241Gly) | |
X | g.154860505A>G | CA414903663 | F8 | c.6827T>C (p.Val2276Ala) c.560T>C (p.Val187Ala) c.422T>C (p.Val141Ala) c.6722T>C (p.Val2241Ala) | |
X | g.154860505A>T | CA414903677 | F8 | c.6827T>A (p.Val2276Glu) c.560T>A (p.Val187Glu) c.422T>A (p.Val141Glu) c.6722T>A (p.Val2241Glu) | |
X | g.154860506C>A | CA414903698 | F8 | c.6826G>T (p.Val2276Leu) c.559G>T (p.Val187Leu) c.421G>T (p.Val141Leu) c.6721G>T (p.Val2241Leu) | |
X | g.154860506C= | CA2466814998 | F8 | c.6826G= (p.Val2276=) c.559G= (p.Val187=) c.421G= (p.Val141=) c.6721G= (p.Val2241=) | |
X | g.154860506C>G | CA414903690 | F8 | c.6826G>C (p.Val2276Leu) c.559G>C (p.Val187Leu) c.421G>C (p.Val141Leu) c.6721G>C (p.Val2241Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154860506C>T | CA414903683 | F8 | c.6826G>A (p.Val2276Met) c.559G>A (p.Val187Met) c.421G>A (p.Val141Met) c.6721G>A (p.Val2241Met) | gnomAD v4 |
X | g.154860507del | CA2695237129 | F8 | c.6825del (p.Tyr2275Ter) c.558del (p.Tyr186Ter) c.420del (p.Tyr140Ter) c.6720del (p.Tyr2240Ter) | |
X | g.154860507A>C | CA414903722 | F8 | c.6825T>G (p.Tyr2275Ter) c.558T>G (p.Tyr186Ter) c.420T>G (p.Tyr140Ter) c.6720T>G (p.Tyr2240Ter) | |
X | g.154860507A>G | CA519356148 | F8 | c.6825T>C (p.Tyr2275=) c.558T>C (p.Tyr186=) c.420T>C (p.Tyr140=) c.6720T>C (p.Tyr2240=) | gnomAD v4 |
X | g.154860507A>T | CA414903745 | F8 | c.6825T>A (p.Tyr2275Ter) c.558T>A (p.Tyr186Ter) c.420T>A (p.Tyr140Ter) c.6720T>A (p.Tyr2240Ter) | ClinVar |
X | g.154860508T>A | CA414903750 | F8 | c.6824A>T (p.Tyr2275Phe) c.557A>T (p.Tyr186Phe) c.419A>T (p.Tyr140Phe) c.6719A>T (p.Tyr2240Phe) | |
X | g.154860508T>C | CA414903754 | F8 | c.6824A>G (p.Tyr2275Cys) c.557A>G (p.Tyr186Cys) c.419A>G (p.Tyr140Cys) c.6719A>G (p.Tyr2240Cys) | |
X | g.154860508T>G | CA414903752 | F8 | c.6824A>C (p.Tyr2275Ser) c.557A>C (p.Tyr186Ser) c.419A>C (p.Tyr140Ser) c.6719A>C (p.Tyr2240Ser) | |
X | g.154860509A= | CA2466814999 | F8 | c.6823T= (p.Tyr2275=) c.556T= (p.Tyr186=) c.418T= (p.Tyr140=) c.6718T= (p.Tyr2240=) | |
X | g.154860509A>C | CA414903759 | F8 | c.6823T>G (p.Tyr2275Asp) c.556T>G (p.Tyr186Asp) c.418T>G (p.Tyr140Asp) c.6718T>G (p.Tyr2240Asp) | |
X | g.154860509A>G | CA414903766 | F8 | c.6823T>C (p.Tyr2275His) c.556T>C (p.Tyr186His) c.418T>C (p.Tyr140His) c.6718T>C (p.Tyr2240His) | dbSNP gnomAD v4 |
X | g.154860509A>T | CA414903772 | F8 | c.6823T>A (p.Tyr2275Asn) c.556T>A (p.Tyr186Asn) c.418T>A (p.Tyr140Asn) c.6718T>A (p.Tyr2240Asn) | dbSNP |
X | g.154860509_154860510insACATAAAAAGGTTGATATATGACCAAATTTT | CA2560679545 | F8 | c.6822_6823insAAAATTTGGTCATATATCAACCTTTTTATGT (p.Tyr2275LysfsTer?) c.555_556insAAAATTTGGTCATATATCAACCTTTTTATGT (p.Tyr186LysfsTer?) c.417_418insAAAATTTGGTCATATATCAACCTTTTTATGT (p.Tyr140LysfsTer?) c.6717_6718insAAAATTTGGTCATATATCAACCTTTTTATGT (p.Tyr2240LysfsTer?) | |
X | g.154860510C>A | CA414903775 | F8 | c.6822G>T (p.Met2274Ile) c.555G>T (p.Met185Ile) c.417G>T (p.Met139Ile) c.6717G>T (p.Met2239Ile) | |
X | g.154860510C>G | CA414903803 | F8 | c.6822G>C (p.Met2274Ile) c.555G>C (p.Met185Ile) c.417G>C (p.Met139Ile) c.6717G>C (p.Met2239Ile) | |
X | g.154860510C>T | CA414903809 | F8 | c.6822G>A (p.Met2274Ile) c.555G>A (p.Met185Ile) c.417G>A (p.Met139Ile) c.6717G>A (p.Met2239Ile) | |
X | g.154860511A>C | CA414903815 | F8 | c.6821T>G (p.Met2274Arg) c.554T>G (p.Met185Arg) c.416T>G (p.Met139Arg) c.6716T>G (p.Met2239Arg) | |
X | g.154860511A>G | CA414903819 | F8 | c.6821T>C (p.Met2274Thr) c.554T>C (p.Met185Thr) c.416T>C (p.Met139Thr) c.6716T>C (p.Met2239Thr) | ClinVar |
X | g.154860511A>T | CA414903826 | F8 | c.6821T>A (p.Met2274Lys) c.554T>A (p.Met185Lys) c.416T>A (p.Met139Lys) c.6716T>A (p.Met2239Lys) | |
X | g.154860512T>A | CA414903831 | F8 | c.6820A>T (p.Met2274Leu) c.553A>T (p.Met185Leu) c.415A>T (p.Met139Leu) c.6715A>T (p.Met2239Leu) | |
X | g.154860512T>C | CA414903832 | F8 | c.6820A>G (p.Met2274Val) c.553A>G (p.Met185Val) c.415A>G (p.Met139Val) c.6715A>G (p.Met2239Val) | dbSNP |
X | g.154860512T>G | CA414903834 | F8 | c.6820A>C (p.Met2274Leu) c.553A>C (p.Met185Leu) c.415A>C (p.Met139Leu) c.6715A>C (p.Met2239Leu) | |
X | g.154860512T= | CA2466815000 | F8 | c.6820A= (p.Met2274=) c.553A= (p.Met185=) c.415A= (p.Met139=) c.6715A= (p.Met2239=) | |
X | g.154860513G>A | CA519356165 | F8 | c.6819C>T (p.Ser2273=) c.552C>T (p.Ser184=) c.414C>T (p.Ser138=) c.6714C>T (p.Ser2238=) | |
X | g.154860513G>C | CA414903838 | F8 | c.6819C>G (p.Ser2273Arg) c.552C>G (p.Ser184Arg) c.414C>G (p.Ser138Arg) c.6714C>G (p.Ser2238Arg) | |
X | g.154860513G>T | CA414903841 | F8 | c.6819C>A (p.Ser2273Arg) c.552C>A (p.Ser184Arg) c.414C>A (p.Ser138Arg) c.6714C>A (p.Ser2238Arg) | |
X | g.154860514C>A | CA414903845 | F8 | c.6818G>T (p.Ser2273Ile) c.551G>T (p.Ser184Ile) c.413G>T (p.Ser138Ile) c.6713G>T (p.Ser2238Ile) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154860514C= | CA2466815001 | F8 | c.6818G= (p.Ser2273=) c.551G= (p.Ser184=) c.413G= (p.Ser138=) c.6713G= (p.Ser2238=) | |
X | g.154860514C>G | CA414903846 | F8 | c.6818G>C (p.Ser2273Thr) c.551G>C (p.Ser184Thr) c.413G>C (p.Ser138Thr) c.6713G>C (p.Ser2238Thr) | |
X | g.154860514C>T | CA10567755 | F8 | c.6818G>A (p.Ser2273Asn) c.551G>A (p.Ser184Asn) c.413G>A (p.Ser138Asn) c.6713G>A (p.Ser2238Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154860515T>A | CA414903864 | F8 | c.6817A>T (p.Ser2273Cys) c.550A>T (p.Ser184Cys) c.412A>T (p.Ser138Cys) c.6712A>T (p.Ser2238Cys) | |
X | g.154860515T>C | CA414903869 | F8 | c.6817A>G (p.Ser2273Gly) c.550A>G (p.Ser184Gly) c.412A>G (p.Ser138Gly) c.6712A>G (p.Ser2238Gly) | dbSNP gnomAD v4 |
X | g.154860515T>G | CA414903875 | F8 | c.6817A>C (p.Ser2273Arg) c.550A>C (p.Ser184Arg) c.412A>C (p.Ser138Arg) c.6712A>C (p.Ser2238Arg) | |
X | g.154860515T= | CA2466815002 | F8 | c.6817A= (p.Ser2273=) c.550A= (p.Ser184=) c.412A= (p.Ser138=) c.6712A= (p.Ser2238=) | |
X | g.154860516G>A | CA519356170 | F8 | c.6816C>T (p.Thr2272=) c.549C>T (p.Thr183=) c.411C>T (p.Thr137=) c.6711C>T (p.Thr2237=) | |
X | g.154860516G>C | CA519356171 | F8 | c.6816C>G (p.Thr2272=) c.549C>G (p.Thr183=) c.411C>G (p.Thr137=) c.6711C>G (p.Thr2237=) | |
X | g.154860516G>T | CA519356172 | F8 | c.6816C>A (p.Thr2272=) c.549C>A (p.Thr183=) c.411C>A (p.Thr137=) c.6711C>A (p.Thr2237=) | |
X | g.154860517del | CA519356173 | F8 | c.6816del (p.Ser2273AlafsTer4) c.549del (p.Ser184AlafsTer4) c.411del (p.Ser138AlafsTer4) c.6711del (p.Ser2238AlafsTer4) | COSMIC COSMIC |
X | g.154860517G>A | CA414903883 | F8 | c.6815C>T (p.Thr2272Ile) c.548C>T (p.Thr183Ile) c.410C>T (p.Thr137Ile) c.6710C>T (p.Thr2237Ile) | |
X | g.154860517G>C | CA414903892 | F8 | c.6815C>G (p.Thr2272Ser) c.548C>G (p.Thr183Ser) c.410C>G (p.Thr137Ser) c.6710C>G (p.Thr2237Ser) | |
X | g.154860517G>T | CA414903903 | F8 | c.6815C>A (p.Thr2272Asn) c.548C>A (p.Thr183Asn) c.410C>A (p.Thr137Asn) c.6710C>A (p.Thr2237Asn) | |
X | g.154860518T>A | CA414903916 | F8 | c.6814A>T (p.Thr2272Ser) c.547A>T (p.Thr183Ser) c.409A>T (p.Thr137Ser) c.6709A>T (p.Thr2237Ser) | |
X | g.154860518T>C | CA10567756 | F8 | c.6814A>G (p.Thr2272Ala) c.547A>G (p.Thr183Ala) c.409A>G (p.Thr137Ala) c.6709A>G (p.Thr2237Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154860518T>G | CA414903910 | F8 | c.6814A>C (p.Thr2272Pro) c.547A>C (p.Thr183Pro) c.409A>C (p.Thr137Pro) c.6709A>C (p.Thr2237Pro) | |
X | g.154860518T= | CA2466815003 | F8 | c.6814A= (p.Thr2272=) c.547A= (p.Thr183=) c.409A= (p.Thr137=) c.6709A= (p.Thr2237=) | |
X | g.154860519A>C | CA519356186 | F8 | c.6813T>G (p.Leu2271=) c.546T>G (p.Leu182=) c.408T>G (p.Leu136=) c.6708T>G (p.Leu2236=) | |
X | g.154860519A>G | CA519356187 | F8 | c.6813T>C (p.Leu2271=) c.546T>C (p.Leu182=) c.408T>C (p.Leu136=) c.6708T>C (p.Leu2236=) | |
X | g.154860519A>T | CA519356188 | F8 | c.6813T>A (p.Leu2271=) c.546T>A (p.Leu182=) c.408T>A (p.Leu136=) c.6708T>A (p.Leu2236=) | |
X | g.154860520A= | CA2466815004 | F8 | c.6812T= (p.Leu2271=) c.545T= (p.Leu182=) c.407T= (p.Leu136=) c.6707T= (p.Leu2236=) | |
X | g.154860520A>C | CA414903922 | F8 | c.6812T>G (p.Leu2271Arg) c.545T>G (p.Leu182Arg) c.407T>G (p.Leu136Arg) c.6707T>G (p.Leu2236Arg) | |
X | g.154860520A>G | CA414903929 | F8 | c.6812T>C (p.Leu2271Pro) c.545T>C (p.Leu182Pro) c.407T>C (p.Leu136Pro) c.6707T>C (p.Leu2236Pro) | ClinVar dbSNP |
X | g.154860520A>T | CA414903934 | F8 | c.6812T>A (p.Leu2271His) c.545T>A (p.Leu182His) c.407T>A (p.Leu136His) c.6707T>A (p.Leu2236His) | |
X | g.154860521G>A | CA414903935 | F8 | c.6811C>T (p.Leu2271Phe) c.544C>T (p.Leu182Phe) c.406C>T (p.Leu136Phe) c.6706C>T (p.Leu2236Phe) | |
X | g.154860521G>C | CA414903937 | F8 | c.6811C>G (p.Leu2271Val) c.544C>G (p.Leu182Val) c.406C>G (p.Leu136Val) c.6706C>G (p.Leu2236Val) | |
X | g.154860521G>T | CA414903939 | F8 | c.6811C>A (p.Leu2271Ile) c.544C>A (p.Leu182Ile) c.406C>A (p.Leu136Ile) c.6706C>A (p.Leu2236Ile) | |
X | g.154860522C>A | CA519356195 | F8 | c.6810G>T (p.Leu2270=) c.543G>T (p.Leu181=) c.405G>T (p.Leu135=) c.6705G>T (p.Leu2235=) | |
X | g.154860522C>G | CA519356193 | F8 | c.6810G>C (p.Leu2270=) c.543G>C (p.Leu181=) c.405G>C (p.Leu135=) c.6705G>C (p.Leu2235=) | |
X | g.154860522C>T | CA519356194 | F8 | c.6810G>A (p.Leu2270=) c.543G>A (p.Leu181=) c.405G>A (p.Leu135=) c.6705G>A (p.Leu2235=) |