Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.52306076C>A | CA384918877 | KRT81,KRT86 | c.1043C>A (p.Ala348Asp) c.1274C>A (p.Ala425Asp) c.-212+2135G>T (n.-212+2135G>T) | |
12 | g.52306076C>G | CA384918878 | KRT81,KRT86 | c.1043C>G (p.Ala348Gly) c.1274C>G (p.Ala425Gly) c.-212+2135G>C (n.-212+2135G>C) | |
12 | g.52306076C>T | CA384918879 | KRT81,KRT86 | c.1043C>T (p.Ala348Val) c.1274C>T (p.Ala425Val) c.-212+2135G>A (n.-212+2135G>A) | |
12 | g.52306077T>A | CA480065425 | KRT81,KRT86 | c.1044T>A (p.Ala348=) c.1275T>A (p.Ala425=) c.-212+2134A>T (n.-212+2134A>T) | |
12 | g.52306077T>C | CA6577056 | KRT81,KRT86 | c.1044T>C (p.Ala348=) c.1275T>C (p.Ala425=) c.-212+2134A>G (n.-212+2134A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306077T>G | CA480065426 | KRT81,KRT86 | c.1044T>G (p.Ala348=) c.1275T>G (p.Ala425=) c.-212+2134A>C (n.-212+2134A>C) | dbSNP gnomAD v4 |
12 | g.52306077T= | CA2036432429 | KRT81,KRT86 | c.1044T= (p.Ala348=) c.1275T= (p.Ala425=) c.-212+2134A= (n.-212+2134A=) | |
12 | g.52306078G>A | CA384918880 | KRT81,KRT86 | c.1045G>A (p.Ala349Thr) c.1276G>A (p.Ala426Thr) c.-212+2133C>T (n.-212+2133C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306078G>C | CA384918881 | KRT81,KRT86 | c.1045G>C (p.Ala349Pro) c.1276G>C (p.Ala426Pro) c.-212+2133C>G (n.-212+2133C>G) | |
12 | g.52306078G= | CA2036432430 | KRT81,KRT86 | c.1045G= (p.Ala349=) c.1276G= (p.Ala426=) c.-212+2133C= (n.-212+2133C=) | |
12 | g.52306078G>T | CA384918882 | KRT81,KRT86 | c.1045G>T (p.Ala349Ser) c.1276G>T (p.Ala426Ser) c.-212+2133C>A (n.-212+2133C>A) | |
12 | g.52306079C>A | CA384918883 | KRT81,KRT86 | c.1046C>A (p.Ala349Glu) c.1277C>A (p.Ala426Glu) c.-212+2132G>T (n.-212+2132G>T) | |
12 | g.52306079C= | CA2036432431 | KRT81,KRT86 | c.1046C= (p.Ala349=) c.1277C= (p.Ala426=) c.-212+2132G= (n.-212+2132G=) | |
12 | g.52306079C>G | CA384918884 | KRT81,KRT86 | c.1046C>G (p.Ala349Gly) c.1277C>G (p.Ala426Gly) c.-212+2132G>C (n.-212+2132G>C) | |
12 | g.52306079C>T | CA6577057 | KRT81,KRT86 | c.1046C>T (p.Ala349Val) c.1277C>T (p.Ala426Val) c.-212+2132G>A (n.-212+2132G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306080G>A | CA6577058 | KRT81,KRT86 | c.1047G>A (p.Ala349=) c.1278G>A (p.Ala426=) c.-212+2131C>T (n.-212+2131C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306080G>C | CA480065427 | KRT81,KRT86 | c.1047G>C (p.Ala349=) c.1278G>C (p.Ala426=) c.-212+2131C>G (n.-212+2131C>G) | |
12 | g.52306080G= | CA2036432432 | KRT81,KRT86 | c.1047G= (p.Ala349=) c.1278G= (p.Ala426=) c.-212+2131C= (n.-212+2131C=) | |
12 | g.52306080G>T | CA480065428 | KRT81,KRT86 | c.1047G>T (p.Ala349=) c.1278G>T (p.Ala426=) c.-212+2131C>A (n.-212+2131C>A) | dbSNP |
12 | g.52306082_52306084dup | CA2575163452 | KRT81,KRT86 | c.1049_1051dup (p.Val350_Ala351insVal) c.1280_1282dup (p.Val427_Ala428insVal) c.-212+2129_-212+2131dup (n.-212+2129_-212+2131dup) | gnomAD v4 |
12 | g.52306081G>A | CA384918887 | KRT81,KRT86 | c.1048G>A (p.Val350Met) c.1279G>A (p.Val427Met) c.-212+2130C>T (n.-212+2130C>T) | |
12 | g.52306081G>C | CA384918886 | KRT81,KRT86 | c.1048G>C (p.Val350Leu) c.1279G>C (p.Val427Leu) c.-212+2130C>G (n.-212+2130C>G) | |
12 | g.52306081G>T | CA384918885 | KRT81,KRT86 | c.1048G>T (p.Val350Leu) c.1279G>T (p.Val427Leu) c.-212+2130C>A (n.-212+2130C>A) | |
12 | g.52306082T>A | CA384918888 | KRT81,KRT86 | c.1049T>A (p.Val350Glu) c.1280T>A (p.Val427Glu) c.-212+2129A>T (n.-212+2129A>T) | |
12 | g.52306082T>C | CA384918889 | KRT81,KRT86 | c.1049T>C (p.Val350Ala) c.1280T>C (p.Val427Ala) c.-212+2129A>G (n.-212+2129A>G) | |
12 | g.52306082T>G | CA384918890 | KRT81,KRT86 | c.1049T>G (p.Val350Gly) c.1280T>G (p.Val427Gly) c.-212+2129A>C (n.-212+2129A>C) | |
12 | g.52306083G>A | CA6577059 | KRT81,KRT86 | c.1050G>A (p.Val350=) c.1281G>A (p.Val427=) c.-212+2128C>T (n.-212+2128C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.52306083G>C | CA480065430 | KRT81,KRT86 | c.1050G>C (p.Val350=) c.1281G>C (p.Val427=) c.-212+2128C>G (n.-212+2128C>G) | |
12 | g.52306083G= | CA2036432433 | KRT81,KRT86 | c.1050G= (p.Val350=) c.1281G= (p.Val427=) c.-212+2128C= (n.-212+2128C=) | |
12 | g.52306083G>T | CA480065429 | KRT81,KRT86 | c.1050G>T (p.Val350=) c.1281G>T (p.Val427=) c.-212+2128C>A (n.-212+2128C>A) | |
12 | g.52306084G>A | CA6577060 | KRT81,KRT86 | c.1051G>A (p.Ala351Thr) c.1282G>A (p.Ala428Thr) c.-212+2127C>T (n.-212+2127C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52306084G>C | CA384918891 | KRT81,KRT86 | c.1051G>C (p.Ala351Pro) c.1282G>C (p.Ala428Pro) c.-212+2127C>G (n.-212+2127C>G) | |
12 | g.52306084G= | CA2036432434 | KRT81,KRT86 | c.1051G= (p.Ala351=) c.1282G= (p.Ala428=) c.-212+2127C= (n.-212+2127C=) | |
12 | g.52306084G>T | CA384918892 | KRT81,KRT86 | c.1051G>T (p.Ala351Ser) c.1282G>T (p.Ala428Ser) c.-212+2127C>A (n.-212+2127C>A) | |
12 | g.52306085C>A | CA384918893 | KRT81,KRT86 | c.1052C>A (p.Ala351Asp) c.1283C>A (p.Ala428Asp) c.-212+2126G>T (n.-212+2126G>T) | |
12 | g.52306085C>G | CA384918894 | KRT81,KRT86 | c.1052C>G (p.Ala351Gly) c.1283C>G (p.Ala428Gly) c.-212+2126G>C (n.-212+2126G>C) | gnomAD v4 |
12 | g.52306085C>T | CA384918895 | KRT81,KRT86 | c.1052C>T (p.Ala351Val) c.1283C>T (p.Ala428Val) c.-212+2126G>A (n.-212+2126G>A) | |
12 | g.52306086T>A | CA6577062 | KRT81,KRT86 | c.1053T>A (p.Ala351=) c.1284T>A (p.Ala428=) c.-212+2125A>T (n.-212+2125A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306086T>C | CA6577061 | KRT81,KRT86 | c.1053T>C (p.Ala351=) c.1284T>C (p.Ala428=) c.-212+2125A>G (n.-212+2125A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306086T>G | CA480065431 | KRT81,KRT86 | c.1053T>G (p.Ala351=) c.1284T>G (p.Ala428=) c.-212+2125A>C (n.-212+2125A>C) | |
12 | g.52306086T= | CA2036432435 | KRT81,KRT86 | c.1053T= (p.Ala351=) c.1284T= (p.Ala428=) c.-212+2125A= (n.-212+2125A=) | |
12 | g.52306087C>A | CA384918896 | KRT81,KRT86 | c.1054C>A (p.Gln352Lys) c.1285C>A (p.Gln429Lys) c.-212+2124G>T (n.-212+2124G>T) | |
12 | g.52306087C>G | CA384918898 | KRT81,KRT86 | c.1054C>G (p.Gln352Glu) c.1285C>G (p.Gln429Glu) c.-212+2124G>C (n.-212+2124G>C) | gnomAD v4 |
12 | g.52306087C>T | CA384918897 | KRT81,KRT86 | c.1054C>T (p.Gln352Ter) c.1285C>T (p.Gln429Ter) c.-212+2124G>A (n.-212+2124G>A) | |
12 | g.52306088A>C | CA384918899 | KRT81,KRT86 | c.1055A>C (p.Gln352Pro) c.1286A>C (p.Gln429Pro) c.-212+2123T>G (n.-212+2123T>G) | |
12 | g.52306088A>G | CA384918901 | KRT81,KRT86 | c.1055A>G (p.Gln352Arg) c.1286A>G (p.Gln429Arg) c.-212+2123T>C (n.-212+2123T>C) | |
12 | g.52306088A>T | CA384918900 | KRT81,KRT86 | c.1055A>T (p.Gln352Leu) c.1286A>T (p.Gln429Leu) c.-212+2123T>A (n.-212+2123T>A) | gnomAD v4 |
12 | g.52306089G>A | CA480065432 | KRT81,KRT86 | c.1056G>A (p.Gln352=) c.1287G>A (p.Gln429=) c.-212+2122C>T (n.-212+2122C>T) | gnomAD v4 |
12 | g.52306089G>C | CA384918902 | KRT81,KRT86 | c.1056G>C (p.Gln352His) c.1287G>C (p.Gln429His) c.-212+2122C>G (n.-212+2122C>G) | |
12 | g.52306089G>T | CA384918903 | KRT81,KRT86 | c.1056G>T (p.Gln352His) c.1287G>T (p.Gln429His) c.-212+2122C>A (n.-212+2122C>A) | |
12 | g.52306090T>A | CA384918904 | KRT81,KRT86 | c.1057T>A (p.Ser353Thr) c.1288T>A (p.Ser430Thr) c.-212+2121A>T (n.-212+2121A>T) | |
12 | g.52306090T>C | CA384918906 | KRT81,KRT86 | c.1057T>C (p.Ser353Pro) c.1288T>C (p.Ser430Pro) c.-212+2121A>G (n.-212+2121A>G) | gnomAD v4 |
12 | g.52306090T>G | CA384918905 | KRT81,KRT86 | c.1057T>G (p.Ser353Ala) c.1288T>G (p.Ser430Ala) c.-212+2121A>C (n.-212+2121A>C) | |
12 | g.52306091C>A | CA384918907 | KRT81,KRT86 | c.1058C>A (p.Ser353Tyr) c.1289C>A (p.Ser430Tyr) c.-212+2120G>T (n.-212+2120G>T) | |
12 | g.52306091C= | CA2036432436 | KRT81,KRT86 | c.1058C= (p.Ser353=) c.1289C= (p.Ser430=) c.-212+2120G= (n.-212+2120G=) | |
12 | g.52306091C>G | CA237206359 | KRT81,KRT86 | c.1058C>G (p.Ser353Cys) c.1289C>G (p.Ser430Cys) c.-212+2120G>C (n.-212+2120G>C) | dbSNP |
12 | g.52306091C>T | CA384918908 | KRT81,KRT86 | c.1058C>T (p.Ser353Phe) c.1289C>T (p.Ser430Phe) c.-212+2120G>A (n.-212+2120G>A) | |
12 | g.52306092T>A | CA480065436 | KRT81,KRT86 | c.1059T>A (p.Ser353=) c.1290T>A (p.Ser430=) c.-212+2119A>T (n.-212+2119A>T) | |
12 | g.52306092T>C | CA480065433 | KRT81,KRT86 | c.1059T>C (p.Ser353=) c.1290T>C (p.Ser430=) c.-212+2119A>G (n.-212+2119A>G) | |
12 | g.52306092T>G | CA480065434 | KRT81,KRT86 | c.1059T>G (p.Ser353=) c.1290T>G (p.Ser430=) c.-212+2119A>C (n.-212+2119A>C) | |
12 | g.52306093G>A | CA384918909 | KRT81,KRT86 | c.1060G>A (p.Glu354Lys) c.1291G>A (p.Glu431Lys) c.-212+2118C>T (n.-212+2118C>T) | |
12 | g.52306093G>C | CA384918910 | KRT81,KRT86 | c.1060G>C (p.Glu354Gln) c.1291G>C (p.Glu431Gln) c.-212+2118C>G (n.-212+2118C>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52306093G= | CA2036432437 | KRT81,KRT86 | c.1060G= (p.Glu354=) c.1291G= (p.Glu431=) c.-212+2118C= (n.-212+2118C=) | |
12 | g.52306093G>T | CA384918911 | KRT81,KRT86 | c.1060G>T (p.Glu354Ter) c.1291G>T (p.Glu431Ter) c.-212+2118C>A (n.-212+2118C>A) | |
12 | g.52306094A>C | CA384918914 | KRT81,KRT86 | c.1061A>C (p.Glu354Ala) c.1292A>C (p.Glu431Ala) c.-212+2117T>G (n.-212+2117T>G) | |
12 | g.52306094A>G | CA384918912 | KRT81,KRT86 | c.1061A>G (p.Glu354Gly) c.1292A>G (p.Glu431Gly) c.-212+2117T>C (n.-212+2117T>C) | |
12 | g.52306094A>T | CA384918913 | KRT81,KRT86 | c.1061A>T (p.Glu354Val) c.1292A>T (p.Glu431Val) c.-212+2117T>A (n.-212+2117T>A) | |
12 | g.52306095G>A | CA480065437 | KRT81,KRT86 | c.1062G>A (p.Glu354=) c.1293G>A (p.Glu431=) c.-212+2116C>T (n.-212+2116C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52306095G>C | CA384918915 | KRT81,KRT86 | c.1062G>C (p.Glu354Asp) c.1293G>C (p.Glu431Asp) c.-212+2116C>G (n.-212+2116C>G) | |
12 | g.52306095G= | CA2036432438 | KRT81,KRT86 | c.1062G= (p.Glu354=) c.1293G= (p.Glu431=) c.-212+2116C= (n.-212+2116C=) | |
12 | g.52306095G>T | CA6577063 | KRT81,KRT86 | c.1062G>T (p.Glu354Asp) c.1293G>T (p.Glu431Asp) c.-212+2116C>A (n.-212+2116C>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.52306096C>A | CA384918916 | KRT81,KRT86 | c.1063C>A (p.Gln355Lys) c.1294C>A (p.Gln432Lys) c.-212+2115G>T (n.-212+2115G>T) | |
12 | g.52306096C>G | CA384918917 | KRT81,KRT86 | c.1063C>G (p.Gln355Glu) c.1294C>G (p.Gln432Glu) c.-212+2115G>C (n.-212+2115G>C) | |
12 | g.52306096C>T | CA384918918 | KRT81,KRT86 | c.1063C>T (p.Gln355Ter) c.1294C>T (p.Gln432Ter) c.-212+2115G>A (n.-212+2115G>A) | |
12 | g.52306097A>C | CA384918921 | KRT81,KRT86 | c.1064A>C (p.Gln355Pro) c.1295A>C (p.Gln432Pro) c.-212+2114T>G (n.-212+2114T>G) | |
12 | g.52306097A>G | CA384918919 | KRT81,KRT86 | c.1064A>G (p.Gln355Arg) c.1295A>G (p.Gln432Arg) c.-212+2114T>C (n.-212+2114T>C) | gnomAD v4 |
12 | g.52306097A>T | CA384918920 | KRT81,KRT86 | c.1064A>T (p.Gln355Leu) c.1295A>T (p.Gln432Leu) c.-212+2114T>A (n.-212+2114T>A) | |
12 | g.52306098G>A | CA480065439 | KRT81,KRT86 | c.1065G>A (p.Gln355=) c.1296G>A (p.Gln432=) c.-212+2113C>T (n.-212+2113C>T) | dbSNP gnomAD v2 |
12 | g.52306098G>C | CA384918922 | KRT81,KRT86 | c.1065G>C (p.Gln355His) c.1296G>C (p.Gln432His) c.-212+2113C>G (n.-212+2113C>G) | |
12 | g.52306098G= | CA2036432439 | KRT81,KRT86 | c.1065G= (p.Gln355=) c.1296G= (p.Gln432=) c.-212+2113C= (n.-212+2113C=) | |
12 | g.52306098G>T | CA384918923 | KRT81,KRT86 | c.1065G>T (p.Gln355His) c.1296G>T (p.Gln432His) c.-212+2113C>A (n.-212+2113C>A) | |
12 | g.52306099C>A | CA384918924 | KRT81,KRT86 | c.1066C>A (p.Gln356Lys) c.1297C>A (p.Gln433Lys) c.-212+2112G>T (n.-212+2112G>T) | dbSNP |
12 | g.52306099C= | CA2036432440 | KRT81,KRT86 | c.1066C= (p.Gln356=) c.1297C= (p.Gln433=) c.-212+2112G= (n.-212+2112G=) | |
12 | g.52306099C>G | CA6577065 | KRT81,KRT86 | c.1066C>G (p.Gln356Glu) c.1297C>G (p.Gln433Glu) c.-212+2112G>C (n.-212+2112G>C) | dbSNP ExAC gnomAD v2 |
12 | g.52306099C>T | CA6577064 | KRT81,KRT86 | c.1066C>T (p.Gln356Ter) c.1297C>T (p.Gln433Ter) c.-212+2112G>A (n.-212+2112G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52306100A>C | CA384918925 | KRT81,KRT86 | c.1067A>C (p.Gln356Pro) c.1298A>C (p.Gln433Pro) c.-212+2111T>G (n.-212+2111T>G) | |
12 | g.52306100A>G | CA384918926 | KRT81,KRT86 | c.1067A>G (p.Gln356Arg) c.1298A>G (p.Gln433Arg) c.-212+2111T>C (n.-212+2111T>C) | |
12 | g.52306100A>T | CA384918927 | KRT81,KRT86 | c.1067A>T (p.Gln356Leu) c.1298A>T (p.Gln433Leu) c.-212+2111T>A (n.-212+2111T>A) | |
12 | g.52306101G>A | CA480065441 | KRT81,KRT86 | c.1068G>A (p.Gln356=) c.1299G>A (p.Gln433=) c.-212+2110C>T (n.-212+2110C>T) | |
12 | g.52306101G>C | CA384918928 | KRT81,KRT86 | c.1068G>C (p.Gln356His) c.1299G>C (p.Gln433His) c.-212+2110C>G (n.-212+2110C>G) | |
12 | g.52306101G>T | CA384918929 | KRT81,KRT86 | c.1068G>T (p.Gln356His) c.1299G>T (p.Gln433His) c.-212+2110C>A (n.-212+2110C>A) | |
12 | g.52306102G>A | CA384918930 | KRT81,KRT86 | c.1069G>A (p.Gly357Ser) c.1300G>A (p.Gly434Ser) c.-212+2109C>T (n.-212+2109C>T) | |
12 | g.52306102G>C | CA6577066 | KRT81,KRT86 | c.1069G>C (p.Gly357Arg) c.1300G>C (p.Gly434Arg) c.-212+2109C>G (n.-212+2109C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306102G= | CA2036432441 | KRT81,KRT86 | c.1069G= (p.Gly357=) c.1300G= (p.Gly434=) c.-212+2109C= (n.-212+2109C=) | |
12 | g.52306102G>T | CA384918931 | KRT81,KRT86 | c.1069G>T (p.Gly357Cys) c.1300G>T (p.Gly434Cys) c.-212+2109C>A (n.-212+2109C>A) | |
12 | g.52306103G>A | CA384918932 | KRT81,KRT86 | c.1070G>A (p.Gly357Asp) c.1301G>A (p.Gly434Asp) c.-212+2108C>T (n.-212+2108C>T) | dbSNP gnomAD v4 |
12 | g.52306103G>C | CA384918934 | KRT81,KRT86 | c.1070G>C (p.Gly357Ala) c.1301G>C (p.Gly434Ala) c.-212+2108C>G (n.-212+2108C>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52306103G= | CA2036432442 | KRT81,KRT86 | c.1070G= (p.Gly357=) c.1301G= (p.Gly434=) c.-212+2108C= (n.-212+2108C=) | |
12 | g.52306103G>T | CA384918933 | KRT81,KRT86 | c.1070G>T (p.Gly357Val) c.1301G>T (p.Gly434Val) c.-212+2108C>A (n.-212+2108C>A) | |
12 | g.52306104T>A | CA480065442 | KRT81,KRT86 | c.1071T>A (p.Gly357=) c.1302T>A (p.Gly434=) c.-212+2107A>T (n.-212+2107A>T) | |
12 | g.52306104T>C | CA480065443 | KRT81,KRT86 | c.1071T>C (p.Gly357=) c.1302T>C (p.Gly434=) c.-212+2107A>G (n.-212+2107A>G) | |
12 | g.52306104T>G | CA480065444 | KRT81,KRT86 | c.1071T>G (p.Gly357=) c.1302T>G (p.Gly434=) c.-212+2107A>C (n.-212+2107A>C) | |
12 | g.52306105G>A | CA384918935 | KRT81,KRT86 | c.1072G>A (p.Glu358Lys) c.1303G>A (p.Glu435Lys) c.-212+2106C>T (n.-212+2106C>T) | |
12 | g.52306105G>C | CA384918936 | KRT81,KRT86 | c.1072G>C (p.Glu358Gln) c.1303G>C (p.Glu435Gln) c.-212+2106C>G (n.-212+2106C>G) | |
12 | g.52306105G>T | CA384918937 | KRT81,KRT86 | c.1072G>T (p.Glu358Ter) c.1303G>T (p.Glu435Ter) c.-212+2106C>A (n.-212+2106C>A) | |
12 | g.52306106A>C | CA384918938 | KRT81,KRT86 | c.1073A>C (p.Glu358Ala) c.1304A>C (p.Glu435Ala) c.-212+2105T>G (n.-212+2105T>G) | |
12 | g.52306106A>G | CA384918939 | KRT81,KRT86 | c.1073A>G (p.Glu358Gly) c.1304A>G (p.Glu435Gly) c.-212+2105T>C (n.-212+2105T>C) | |
12 | g.52306106A>T | CA384918940 | KRT81,KRT86 | c.1073A>T (p.Glu358Val) c.1304A>T (p.Glu435Val) c.-212+2105T>A (n.-212+2105T>A) | |
12 | g.52306107G>A | CA480065446 | KRT81,KRT86 | c.1074G>A (p.Glu358=) c.1305G>A (p.Glu435=) c.-212+2104C>T (n.-212+2104C>T) | gnomAD v4 |
12 | g.52306107G>C | CA384918941 | KRT81,KRT86 | c.1074G>C (p.Glu358Asp) c.1305G>C (p.Glu435Asp) c.-212+2104C>G (n.-212+2104C>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52306107G= | CA2036432443 | KRT81,KRT86 | c.1074G= (p.Glu358=) c.1305G= (p.Glu435=) c.-212+2104C= (n.-212+2104C=) | |
12 | g.52306107G>T | CA384918942 | KRT81,KRT86 | c.1074G>T (p.Glu358Asp) c.1305G>T (p.Glu435Asp) c.-212+2104C>A (n.-212+2104C>A) | |
12 | g.52306108G>A | CA384918943 | KRT81,KRT86 | c.1075G>A (p.Ala359Thr) c.1306G>A (p.Ala436Thr) c.-212+2103C>T (n.-212+2103C>T) | |
12 | g.52306108G>C | CA384918944 | KRT81,KRT86 | c.1075G>C (p.Ala359Pro) c.1306G>C (p.Ala436Pro) c.-212+2103C>G (n.-212+2103C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306108G= | CA2036432444 | KRT81,KRT86 | c.1075G= (p.Ala359=) c.1306G= (p.Ala436=) c.-212+2103C= (n.-212+2103C=) | |
12 | g.52306108G>T | CA384918945 | KRT81,KRT86 | c.1075G>T (p.Ala359Ser) c.1306G>T (p.Ala436Ser) c.-212+2103C>A (n.-212+2103C>A) | gnomAD v4 |
12 | g.52306109C>A | CA384918946 | KRT81,KRT86 | c.1076C>A (p.Ala359Glu) c.1307C>A (p.Ala436Glu) c.-212+2102G>T (n.-212+2102G>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52306109C= | CA2036432445 | KRT81,KRT86 | c.1076C= (p.Ala359=) c.1307C= (p.Ala436=) c.-212+2102G= (n.-212+2102G=) | |
12 | g.52306109C>G | CA384918947 | KRT81,KRT86 | c.1076C>G (p.Ala359Gly) c.1307C>G (p.Ala436Gly) c.-212+2102G>C (n.-212+2102G>C) | |
12 | g.52306109C>T | CA6577067 | KRT81,KRT86 | c.1076C>T (p.Ala359Val) c.1307C>T (p.Ala436Val) c.-212+2102G>A (n.-212+2102G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.52306110G>A | CA6577068 | KRT81,KRT86 | c.1077G>A (p.Ala359=) c.1308G>A (p.Ala436=) c.-212+2101C>T (n.-212+2101C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52306110G>C | CA480065450 | KRT81,KRT86 | c.1077G>C (p.Ala359=) c.1308G>C (p.Ala436=) c.-212+2101C>G (n.-212+2101C>G) | |
12 | g.52306110G= | CA2036432446 | KRT81,KRT86 | c.1077G= (p.Ala359=) c.1308G= (p.Ala436=) c.-212+2101C= (n.-212+2101C=) | |
12 | g.52306110G>T | CA480065451 | KRT81,KRT86 | c.1077G>T (p.Ala359=) c.1308G>T (p.Ala436=) c.-212+2101C>A (n.-212+2101C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306111G>A | CA384918948 | KRT81,KRT86 | c.1078G>A (p.Ala360Thr) c.1309G>A (p.Ala437Thr) c.-212+2100C>T (n.-212+2100C>T) | |
12 | g.52306111G>C | CA384918949 | KRT81,KRT86 | c.1078G>C (p.Ala360Pro) c.1309G>C (p.Ala437Pro) c.-212+2100C>G (n.-212+2100C>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52306111G= | CA2036432447 | KRT81,KRT86 | c.1078G= (p.Ala360=) c.1309G= (p.Ala437=) c.-212+2100C= (n.-212+2100C=) | |
12 | g.52306111G>T | CA384918950 | KRT81,KRT86 | c.1078G>T (p.Ala360Ser) c.1309G>T (p.Ala437Ser) c.-212+2100C>A (n.-212+2100C>A) | |
12 | g.52306112C>A | CA384918951 | KRT81,KRT86 | c.1079C>A (p.Ala360Asp) c.1310C>A (p.Ala437Asp) c.-212+2099G>T (n.-212+2099G>T) | |
12 | g.52306112C= | CA2036432448 | KRT81,KRT86 | c.1079C= (p.Ala360=) c.1310C= (p.Ala437=) c.-212+2099G= (n.-212+2099G=) | |
12 | g.52306112C>G | CA384918952 | KRT81,KRT86 | c.1079C>G (p.Ala360Gly) c.1310C>G (p.Ala437Gly) c.-212+2099G>C (n.-212+2099G>C) | |
12 | g.52306112C>T | CA6577069 | KRT81,KRT86 | c.1079C>T (p.Ala360Val) c.1310C>T (p.Ala437Val) c.-212+2099G>A (n.-212+2099G>A) | dbSNP ExAC gnomAD v2 |
12 | g.52306114del | CA2618905941 | KRT81,KRT86 | c.1081del (p.Leu361SerfsTer25) c.1312del (p.Leu438SerfsTer25) c.-212+2099del (n.-212+2099del) | gnomAD v4 |
12 | g.52306113C>A | CA480065456 | KRT81,KRT86 | c.1080C>A (p.Ala360=) c.1311C>A (p.Ala437=) c.-212+2098G>T (n.-212+2098G>T) | |
12 | g.52306113C= | CA2036432449 | KRT81,KRT86 | c.1080C= (p.Ala360=) c.1311C= (p.Ala437=) c.-212+2098G= (n.-212+2098G=) | |
12 | g.52306113C>G | CA480065455 | KRT81,KRT86 | c.1080C>G (p.Ala360=) c.1311C>G (p.Ala437=) c.-212+2098G>C (n.-212+2098G>C) | |
12 | g.52306113C>T | CA480065454 | KRT81,KRT86 | c.1080C>T (p.Ala360=) c.1311C>T (p.Ala437=) c.-212+2098G>A (n.-212+2098G>A) | dbSNP gnomAD v4 |
12 | g.52306114C>A | CA384918953 | KRT81,KRT86 | c.1081C>A (p.Leu361Ile) c.1312C>A (p.Leu438Ile) c.-212+2097G>T (n.-212+2097G>T) | |
12 | g.52306114C= | CA2036432450 | KRT81,KRT86 | c.1081C= (p.Leu361=) c.1312C= (p.Leu438=) c.-212+2097G= (n.-212+2097G=) | |
12 | g.52306114C>G | CA6577070 | KRT81,KRT86 | c.1081C>G (p.Leu361Val) c.1312C>G (p.Leu438Val) c.-212+2097G>C (n.-212+2097G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306114C>T | CA384918954 | KRT81,KRT86 | c.1081C>T (p.Leu361Phe) c.1312C>T (p.Leu438Phe) c.-212+2097G>A (n.-212+2097G>A) | gnomAD v4 |
12 | g.52306115T>A | CA384918955 | KRT81,KRT86 | c.1082T>A (p.Leu361His) c.1313T>A (p.Leu438His) c.-212+2096A>T (n.-212+2096A>T) | |
12 | g.52306115T>C | CA384918956 | KRT81,KRT86 | c.1082T>C (p.Leu361Pro) c.1313T>C (p.Leu438Pro) c.-212+2096A>G (n.-212+2096A>G) | dbSNP |
12 | g.52306115T>G | CA384918957 | KRT81,KRT86 | c.1082T>G (p.Leu361Arg) c.1313T>G (p.Leu438Arg) c.-212+2096A>C (n.-212+2096A>C) | |
12 | g.52306115T= | CA2036432451 | KRT81,KRT86 | c.1082T= (p.Leu361=) c.1313T= (p.Leu438=) c.-212+2096A= (n.-212+2096A=) | |
12 | g.52306116C>A | CA480065460 | KRT81,KRT86 | c.1083C>A (p.Leu361=) c.1314C>A (p.Leu438=) c.-212+2095G>T (n.-212+2095G>T) | dbSNP |
12 | g.52306116C>G | CA480065461 | KRT81,KRT86 | c.1083C>G (p.Leu361=) c.1314C>G (p.Leu438=) c.-212+2095G>C (n.-212+2095G>C) | |
12 | g.52306116C>T | CA480065462 | KRT81,KRT86 | c.1083C>T (p.Leu361=) c.1314C>T (p.Leu438=) c.-212+2095G>A (n.-212+2095G>A) | |
12 | g.52306117A= | CA2036432452 | KRT81,KRT86 | c.1084A= (p.Ser362=) c.1315A= (p.Ser439=) c.-212+2094T= (n.-212+2094T=) | |
12 | g.52306117A>C | CA384918958 | KRT81,KRT86 | c.1084A>C (p.Ser362Arg) c.1315A>C (p.Ser439Arg) c.-212+2094T>G (n.-212+2094T>G) | |
12 | g.52306117A>G | CA384918960 | KRT81,KRT86 | c.1084A>G (p.Ser362Gly) c.1315A>G (p.Ser439Gly) c.-212+2094T>C (n.-212+2094T>C) | |
12 | g.52306117A>T | CA384918959 | KRT81,KRT86 | c.1084A>T (p.Ser362Cys) c.1315A>T (p.Ser439Cys) c.-212+2094T>A (n.-212+2094T>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52306118G>A | CA384918961 | KRT81,KRT86 | c.1085G>A (p.Ser362Asn) c.1316G>A (p.Ser439Asn) c.-212+2093C>T (n.-212+2093C>T) | |
12 | g.52306118G>C | CA384918963 | KRT81,KRT86 | c.1085G>C (p.Ser362Thr) c.1316G>C (p.Ser439Thr) c.-212+2093C>G (n.-212+2093C>G) | dbSNP |
12 | g.52306118G= | CA2036432453 | KRT81,KRT86 | c.1085G= (p.Ser362=) c.1316G= (p.Ser439=) c.-212+2093C= (n.-212+2093C=) | |
12 | g.52306118G>T | CA384918962 | KRT81,KRT86 | c.1085G>T (p.Ser362Ile) c.1316G>T (p.Ser439Ile) c.-212+2093C>A (n.-212+2093C>A) | COSMIC |
12 | g.52306119C>A | CA384918964 | KRT81,KRT86 | c.1086C>A (p.Ser362Arg) c.1317C>A (p.Ser439Arg) c.-212+2092G>T (n.-212+2092G>T) | dbSNP |
12 | g.52306119C= | CA2036432454 | KRT81,KRT86 | c.1086C= (p.Ser362=) c.1317C= (p.Ser439=) c.-212+2092G= (n.-212+2092G=) | |
12 | g.52306119C>G | CA384918965 | KRT81,KRT86 | c.1086C>G (p.Ser362Arg) c.1317C>G (p.Ser439Arg) c.-212+2092G>C (n.-212+2092G>C) | |
12 | g.52306119C>T | CA6577071 | KRT81,KRT86 | c.1086C>T (p.Ser362=) c.1317C>T (p.Ser439=) c.-212+2092G>A (n.-212+2092G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306120G>A | CA6577072 | KRT81,KRT86 | c.1087G>A (p.Asp363Asn) c.1318G>A (p.Asp440Asn) c.-212+2091C>T (n.-212+2091C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306120G>C | CA384918966 | KRT81,KRT86 | c.1087G>C (p.Asp363His) c.1318G>C (p.Asp440His) c.-212+2091C>G (n.-212+2091C>G) | gnomAD v4 |
12 | g.52306120G= | CA2036432455 | KRT81,KRT86 | c.1087G= (p.Asp363=) c.1318G= (p.Asp440=) c.-212+2091C= (n.-212+2091C=) | |
12 | g.52306120G>T | CA384918967 | KRT81,KRT86 | c.1087G>T (p.Asp363Tyr) c.1318G>T (p.Asp440Tyr) c.-212+2091C>A (n.-212+2091C>A) | |
12 | g.52306121A>C | CA384918968 | KRT81,KRT86 | c.1088A>C (p.Asp363Ala) c.1319A>C (p.Asp440Ala) c.-212+2090T>G (n.-212+2090T>G) | |
12 | g.52306121A>G | CA384918969 | KRT81,KRT86 | c.1088A>G (p.Asp363Gly) c.1319A>G (p.Asp440Gly) c.-212+2090T>C (n.-212+2090T>C) | |
12 | g.52306121A>T | CA384918970 | KRT81,KRT86 | c.1088A>T (p.Asp363Val) c.1319A>T (p.Asp440Val) c.-212+2090T>A (n.-212+2090T>A) | |
12 | g.52306122T>A | CA384918971 | KRT81,KRT86 | c.1089T>A (p.Asp363Glu) c.1320T>A (p.Asp440Glu) c.-212+2089A>T (n.-212+2089A>T) | |
12 | g.52306122T>C | CA237206398 | KRT81,KRT86 | c.1089T>C (p.Asp363=) c.1320T>C (p.Asp440=) c.-212+2089A>G (n.-212+2089A>G) | dbSNP gnomAD v4 |
12 | g.52306122T>G | CA384918972 | KRT81,KRT86 | c.1089T>G (p.Asp363Glu) c.1320T>G (p.Asp440Glu) c.-212+2089A>C (n.-212+2089A>C) | |
12 | g.52306122T= | CA2036432456 | KRT81,KRT86 | c.1089T= (p.Asp363=) c.1320T= (p.Asp440=) c.-212+2089A= (n.-212+2089A=) | |
12 | g.52306123G>A | CA384918973 | KRT81,KRT86 | c.1090G>A (p.Ala364Thr) c.1321G>A (p.Ala441Thr) c.-212+2088C>T (n.-212+2088C>T) | dbSNP gnomAD v4 |
12 | g.52306123G>C | CA384918975 | KRT81,KRT86 | c.1090G>C (p.Ala364Pro) c.1321G>C (p.Ala441Pro) c.-212+2088C>G (n.-212+2088C>G) | |
12 | g.52306123G= | CA2036432457 | KRT81,KRT86 | c.1090G= (p.Ala364=) c.1321G= (p.Ala441=) c.-212+2088C= (n.-212+2088C=) | |
12 | g.52306123G>T | CA384918974 | KRT81,KRT86 | c.1090G>T (p.Ala364Ser) c.1321G>T (p.Ala441Ser) c.-212+2088C>A (n.-212+2088C>A) | |
12 | g.52306124C>A | CA6577073 | KRT81,KRT86 | c.1091C>A (p.Ala364Asp) c.1322C>A (p.Ala441Asp) c.-212+2087G>T (n.-212+2087G>T) | dbSNP ExAC gnomAD v4 |
12 | g.52306124C= | CA2036432458 | KRT81,KRT86 | c.1091C= (p.Ala364=) c.1322C= (p.Ala441=) c.-212+2087G= (n.-212+2087G=) | |
12 | g.52306124C>G | CA384918976 | KRT81,KRT86 | c.1091C>G (p.Ala364Gly) c.1322C>G (p.Ala441Gly) c.-212+2087G>C (n.-212+2087G>C) | gnomAD v4 |
12 | g.52306124C>T | CA384918977 | KRT81,KRT86 | c.1091C>T (p.Ala364Val) c.1322C>T (p.Ala441Val) c.-212+2087G>A (n.-212+2087G>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52306125C>A | CA480065467 | KRT81,KRT86 | c.1092C>A (p.Ala364=) c.1323C>A (p.Ala441=) c.-212+2086G>T (n.-212+2086G>T) | |
12 | g.52306125C>G | CA480065469 | KRT81,KRT86 | c.1092C>G (p.Ala364=) c.1323C>G (p.Ala441=) c.-212+2086G>C (n.-212+2086G>C) | |
12 | g.52306125C>T | CA480065468 | KRT81,KRT86 | c.1092C>T (p.Ala364=) c.1323C>T (p.Ala441=) c.-212+2086G>A (n.-212+2086G>A) | gnomAD v4 |
12 | g.52306126C>A | CA384918978 | KRT81,KRT86 | c.1093C>A (p.Arg365Ser) c.1324C>A (p.Arg442Ser) c.-212+2085G>T (n.-212+2085G>T) | |
12 | g.52306126C= | CA2036432459 | KRT81,KRT86 | c.1093C= (p.Arg365=) c.1324C= (p.Arg442=) c.-212+2085G= (n.-212+2085G=) | |
12 | g.52306126C>G | CA384918979 | KRT81,KRT86 | c.1093C>G (p.Arg365Gly) c.1324C>G (p.Arg442Gly) c.-212+2085G>C (n.-212+2085G>C) | |
12 | g.52306126C>T | CA6577074 | KRT81,KRT86 | c.1093C>T (p.Arg365Cys) c.1324C>T (p.Arg442Cys) c.-212+2085G>A (n.-212+2085G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306127G>A | CA6577075 | KRT81,KRT86 | c.1094G>A (p.Arg365His) c.1325G>A (p.Arg442His) c.-212+2084C>T (n.-212+2084C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306127G>C | CA384918980 | KRT81,KRT86 | c.1094G>C (p.Arg365Pro) c.1325G>C (p.Arg442Pro) c.-212+2084C>G (n.-212+2084C>G) | gnomAD v4 |
12 | g.52306127G= | CA2036432460 | KRT81,KRT86 | c.1094G= (p.Arg365=) c.1325G= (p.Arg442=) c.-212+2084C= (n.-212+2084C=) | |
12 | g.52306127G>T | CA384918981 | KRT81,KRT86 | c.1094G>T (p.Arg365Leu) c.1325G>T (p.Arg442Leu) c.-212+2084C>A (n.-212+2084C>A) | gnomAD v4 |
12 | g.52306128C>A | CA480065473 | KRT81,KRT86 | c.1095C>A (p.Arg365=) c.1326C>A (p.Arg442=) c.-212+2083G>T (n.-212+2083G>T) | |
12 | g.52306128C= | CA2036432461 | KRT81,KRT86 | c.1095C= (p.Arg365=) c.1326C= (p.Arg442=) c.-212+2083G= (n.-212+2083G=) | |
12 | g.52306128C>G | CA480065474 | KRT81,KRT86 | c.1095C>G (p.Arg365=) c.1326C>G (p.Arg442=) c.-212+2083G>C (n.-212+2083G>C) | gnomAD v4 |
12 | g.52306128C>T | CA480065476 | KRT81,KRT86 | c.1095C>T (p.Arg365=) c.1326C>T (p.Arg442=) c.-212+2083G>A (n.-212+2083G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.52306129T>A | CA384918983 | KRT81,KRT86 | c.1096T>A (p.Cys366Ser) c.1327T>A (p.Cys443Ser) c.-212+2082A>T (n.-212+2082A>T) | |
12 | g.52306129T>C | CA6577076 | KRT81,KRT86 | c.1096T>C (p.Cys366Arg) c.1327T>C (p.Cys443Arg) c.-212+2082A>G (n.-212+2082A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306129T>G | CA384918982 | KRT81,KRT86 | c.1096T>G (p.Cys366Gly) c.1327T>G (p.Cys443Gly) c.-212+2082A>C (n.-212+2082A>C) | |
12 | g.52306129T= | CA2036432462 | KRT81,KRT86 | c.1096T= (p.Cys366=) c.1327T= (p.Cys443=) c.-212+2082A= (n.-212+2082A=) | |
12 | g.52306130G>A | CA384918984 | KRT81,KRT86 | c.1097G>A (p.Cys366Tyr) c.1328G>A (p.Cys443Tyr) c.-212+2081C>T (n.-212+2081C>T) | |
12 | g.52306130G>C | CA384918985 | KRT81,KRT86 | c.1097G>C (p.Cys366Ser) c.1328G>C (p.Cys443Ser) c.-212+2081C>G (n.-212+2081C>G) | |
12 | g.52306130G>T | CA384918986 | KRT81,KRT86 | c.1097G>T (p.Cys366Phe) c.1328G>T (p.Cys443Phe) c.-212+2081C>A (n.-212+2081C>A) | |
12 | g.52306131C>A | CA384918987 | KRT81,KRT86 | c.1098C>A (p.Cys366Ter) c.1329C>A (p.Cys443Ter) c.-212+2080G>T (n.-212+2080G>T) | COSMIC |
12 | g.52306131C>G | CA384918988 | KRT81,KRT86 | c.1098C>G (p.Cys366Trp) c.1329C>G (p.Cys443Trp) c.-212+2080G>C (n.-212+2080G>C) | |
12 | g.52306131C>T | CA480065478 | KRT81,KRT86 | c.1098C>T (p.Cys366=) c.1329C>T (p.Cys443=) c.-212+2080G>A (n.-212+2080G>A) | gnomAD v4 |
12 | g.52306132A>C | CA384918991 | KRT81,KRT86 | c.1099A>C (p.Lys367Gln) c.1330A>C (p.Lys444Gln) c.-212+2079T>G (n.-212+2079T>G) | |
12 | g.52306132A>G | CA384918989 | KRT81,KRT86 | c.1099A>G (p.Lys367Glu) c.1330A>G (p.Lys444Glu) c.-212+2079T>C (n.-212+2079T>C) | |
12 | g.52306132A>T | CA384918990 | KRT81,KRT86 | c.1099A>T (p.Lys367Ter) c.1330A>T (p.Lys444Ter) c.-212+2079T>A (n.-212+2079T>A) | |
12 | g.52306133A>C | CA384918992 | KRT81,KRT86 | c.1100A>C (p.Lys367Thr) c.1331A>C (p.Lys444Thr) c.-212+2078T>G (n.-212+2078T>G) | |
12 | g.52306133A>G | CA384918993 | KRT81,KRT86 | c.1100A>G (p.Lys367Arg) c.1331A>G (p.Lys444Arg) c.-212+2078T>C (n.-212+2078T>C) | gnomAD v4 |
12 | g.52306133A>T | CA384918994 | KRT81,KRT86 | c.1100A>T (p.Lys367Met) c.1331A>T (p.Lys444Met) c.-212+2078T>A (n.-212+2078T>A) | |
12 | g.52306134G>A | CA480065480 | KRT81,KRT86 | c.1101G>A (p.Lys367=) c.1332G>A (p.Lys444=) c.-212+2077C>T (n.-212+2077C>T) | |
12 | g.52306134G>C | CA384918995 | KRT81,KRT86 | c.1101G>C (p.Lys367Asn) c.1332G>C (p.Lys444Asn) c.-212+2077C>G (n.-212+2077C>G) | |
12 | g.52306134G>T | CA384918996 | KRT81,KRT86 | c.1101G>T (p.Lys367Asn) c.1332G>T (p.Lys444Asn) c.-212+2077C>A (n.-212+2077C>A) | |
12 | g.52306135T>A | CA384918997 | KRT81,KRT86 | c.1102T>A (p.Leu368Met) c.1333T>A (p.Leu445Met) c.-212+2076A>T (n.-212+2076A>T) | |
12 | g.52306135T>C | CA6577077 | KRT81,KRT86 | c.1102T>C (p.Leu368=) c.1333T>C (p.Leu445=) c.-212+2076A>G (n.-212+2076A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306135T>G | CA384918998 | KRT81,KRT86 | c.1102T>G (p.Leu368Val) c.1333T>G (p.Leu445Val) c.-212+2076A>C (n.-212+2076A>C) | |
12 | g.52306135T= | CA2036432463 | KRT81,KRT86 | c.1102T= (p.Leu368=) c.1333T= (p.Leu445=) c.-212+2076A= (n.-212+2076A=) | |
12 | g.52306136T>A | CA384918999 | KRT81,KRT86 | c.1103T>A (p.Leu368Ter) c.1334T>A (p.Leu445Ter) c.-212+2075A>T (n.-212+2075A>T) | |
12 | g.52306136T>C | CA6577078 | KRT81,KRT86 | c.1103T>C (p.Leu368Ser) c.1334T>C (p.Leu445Ser) c.-212+2075A>G (n.-212+2075A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306136T>G | CA384919000 | KRT81,KRT86 | c.1103T>G (p.Leu368Trp) c.1334T>G (p.Leu445Trp) c.-212+2075A>C (n.-212+2075A>C) | |
12 | g.52306136T= | CA2036432464 | KRT81,KRT86 | c.1103T= (p.Leu368=) c.1334T= (p.Leu445=) c.-212+2075A= (n.-212+2075A=) | |
12 | g.52306137G>A | CA480065487 | KRT81,KRT86 | c.1104G>A (p.Leu368=) c.1335G>A (p.Leu445=) c.-212+2074C>T (n.-212+2074C>T) | dbSNP gnomAD v4 |
12 | g.52306137G>C | CA384919001 | KRT81,KRT86 | c.1104G>C (p.Leu368Phe) c.1335G>C (p.Leu445Phe) c.-212+2074C>G (n.-212+2074C>G) | |
12 | g.52306137G= | CA2036432465 | KRT81,KRT86 | c.1104G= (p.Leu368=) c.1335G= (p.Leu445=) c.-212+2074C= (n.-212+2074C=) | |
12 | g.52306137G>T | CA384919002 | KRT81,KRT86 | c.1104G>T (p.Leu368Phe) c.1335G>T (p.Leu445Phe) c.-212+2074C>A (n.-212+2074C>A) | |
12 | g.52306138G>A | CA384919003 | KRT81,KRT86 | c.1105G>A (p.Ala369Thr) c.1336G>A (p.Ala446Thr) c.-212+2073C>T (n.-212+2073C>T) | gnomAD v4 |
12 | g.52306138G>C | CA384919004 | KRT81,KRT86 | c.1105G>C (p.Ala369Pro) c.1336G>C (p.Ala446Pro) c.-212+2073C>G (n.-212+2073C>G) | gnomAD v4 |
12 | g.52306138G>T | CA384919005 | KRT81,KRT86 | c.1105G>T (p.Ala369Ser) c.1336G>T (p.Ala446Ser) c.-212+2073C>A (n.-212+2073C>A) | |
12 | g.52306139C>A | CA384919006 | KRT81,KRT86 | c.1106C>A (p.Ala369Asp) c.1337C>A (p.Ala446Asp) c.-212+2072G>T (n.-212+2072G>T) | |
12 | g.52306139C>G | CA384919007 | KRT81,KRT86 | c.1106C>G (p.Ala369Gly) c.1337C>G (p.Ala446Gly) c.-212+2072G>C (n.-212+2072G>C) | |
12 | g.52306139C>T | CA384919008 | KRT81,KRT86 | c.1106C>T (p.Ala369Val) c.1337C>T (p.Ala446Val) c.-212+2072G>A (n.-212+2072G>A) | gnomAD v4 |
12 | g.52306140C>A | CA6577080 | KRT81,KRT86 | c.1107C>A (p.Ala369=) c.1338C>A (p.Ala446=) c.-212+2071G>T (n.-212+2071G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306140C= | CA2036432466 | KRT81,KRT86 | c.1107C= (p.Ala369=) c.1338C= (p.Ala446=) c.-212+2071G= (n.-212+2071G=) | |
12 | g.52306140C>G | CA237206428 | KRT81,KRT86 | c.1107C>G (p.Ala369=) c.1338C>G (p.Ala446=) c.-212+2071G>C (n.-212+2071G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306140C>T | CA6577079 | KRT81,KRT86 | c.1107C>T (p.Ala369=) c.1338C>T (p.Ala446=) c.-212+2071G>A (n.-212+2071G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306141G>A | CA6577081 | KRT81,KRT86 | c.1108G>A (p.Glu370Lys) c.1339G>A (p.Glu447Lys) c.-212+2070C>T (n.-212+2070C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306141G>C | CA384919009 | KRT81,KRT86 | c.1108G>C (p.Glu370Gln) c.1339G>C (p.Glu447Gln) c.-212+2070C>G (n.-212+2070C>G) | |
12 | g.52306141G= | CA2036432467 | KRT81,KRT86 | c.1108G= (p.Glu370=) c.1339G= (p.Glu447=) c.-212+2070C= (n.-212+2070C=) | |
12 | g.52306141G>T | CA6577082 | KRT81,KRT86 | c.1108G>T (p.Glu370Ter) c.1339G>T (p.Glu447Ter) c.-212+2070C>A (n.-212+2070C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306142A>C | CA384919010 | KRT81,KRT86 | c.1109A>C (p.Glu370Ala) c.1340A>C (p.Glu447Ala) c.-212+2069T>G (n.-212+2069T>G) | |
12 | g.52306142A>G | CA384919012 | KRT81,KRT86 | c.1109A>G (p.Glu370Gly) c.1340A>G (p.Glu447Gly) c.-212+2069T>C (n.-212+2069T>C) | |
12 | g.52306142A>T | CA384919011 | KRT81,KRT86 | c.1109A>T (p.Glu370Val) c.1340A>T (p.Glu447Val) c.-212+2069T>A (n.-212+2069T>A) | |
12 | g.52306143G>A | CA480065494 | KRT81,KRT86 | c.1110G>A (p.Glu370=) c.1341G>A (p.Glu447=) c.-212+2068C>T (n.-212+2068C>T) | |
12 | g.52306143G>C | CA384919013 | KRT81,KRT86 | c.1110G>C (p.Glu370Asp) c.1341G>C (p.Glu447Asp) c.-212+2068C>G (n.-212+2068C>G) | |
12 | g.52306143G>T | CA384919014 | KRT81,KRT86 | c.1110G>T (p.Glu370Asp) c.1341G>T (p.Glu447Asp) c.-212+2068C>A (n.-212+2068C>A) | |
12 | g.52306144C>A | CA384919015 | KRT81,KRT86 | c.1111C>A (p.Leu371Met) c.1342C>A (p.Leu448Met) c.-212+2067G>T (n.-212+2067G>T) | |
12 | g.52306144C= | CA2036432468 | KRT81,KRT86 | c.1111C= (p.Leu371=) c.1342C= (p.Leu448=) c.-212+2067G= (n.-212+2067G=) | |
12 | g.52306144C>G | CA384919016 | KRT81,KRT86 | c.1111C>G (p.Leu371Val) c.1342C>G (p.Leu448Val) c.-212+2067G>C (n.-212+2067G>C) | gnomAD v4 |
12 | g.52306144C>T | CA6577083 | KRT81,KRT86 | c.1111C>T (p.Leu371=) c.1342C>T (p.Leu448=) c.-212+2067G>A (n.-212+2067G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306145T>A | CA384919017 | KRT81,KRT86 | c.1112T>A (p.Leu371Gln) c.1343T>A (p.Leu448Gln) c.-212+2066A>T (n.-212+2066A>T) | |
12 | g.52306145T>C | CA384919018 | KRT81,KRT86 | c.1112T>C (p.Leu371Pro) c.1343T>C (p.Leu448Pro) c.-212+2066A>G (n.-212+2066A>G) | |
12 | g.52306145T>G | CA384919019 | KRT81,KRT86 | c.1112T>G (p.Leu371Arg) c.1343T>G (p.Leu448Arg) c.-212+2066A>C (n.-212+2066A>C) | |
12 | g.52306146G>A | CA480065497 | KRT81,KRT86 | c.1113G>A (p.Leu371=) c.1344G>A (p.Leu448=) c.-212+2065C>T (n.-212+2065C>T) | |
12 | g.52306146G>C | CA480065498 | KRT81,KRT86 | c.1113G>C (p.Leu371=) c.1344G>C (p.Leu448=) c.-212+2065C>G (n.-212+2065C>G) | |
12 | g.52306146G= | CA2036432469 | KRT81,KRT86 | c.1113G= (p.Leu371=) c.1344G= (p.Leu448=) c.-212+2065C= (n.-212+2065C=) | |
12 | g.52306146G>T | CA480065499 | KRT81,KRT86 | c.1113G>T (p.Leu371=) c.1344G>T (p.Leu448=) c.-212+2065C>A (n.-212+2065C>A) | dbSNP |
12 | g.52306147G>A | CA384919020 | KRT81,KRT86 | c.1114G>A (p.Glu372Lys) c.1345G>A (p.Glu449Lys) c.-212+2064C>T (n.-212+2064C>T) | dbSNP gnomAD v4 |
12 | g.52306147G>C | CA384919021 | KRT81,KRT86 | c.1114G>C (p.Glu372Gln) c.1345G>C (p.Glu449Gln) c.-212+2064C>G (n.-212+2064C>G) | |
12 | g.52306147G= | CA2036432470 | KRT81,KRT86 | c.1114G= (p.Glu372=) c.1345G= (p.Glu449=) c.-212+2064C= (n.-212+2064C=) | |
12 | g.52306147G>T | CA384919022 | KRT81,KRT86 | c.1114G>T (p.Glu372Ter) c.1345G>T (p.Glu449Ter) c.-212+2064C>A (n.-212+2064C>A) | |
12 | g.52306148A>C | CA384919023 | KRT81,KRT86 | c.1115A>C (p.Glu372Ala) c.1346A>C (p.Glu449Ala) c.-212+2063T>G (n.-212+2063T>G) | |
12 | g.52306148A>G | CA384919025 | KRT81,KRT86 | c.1115A>G (p.Glu372Gly) c.1346A>G (p.Glu449Gly) c.-212+2063T>C (n.-212+2063T>C) | gnomAD v4 |
12 | g.52306148A>T | CA384919024 | KRT81,KRT86 | c.1115A>T (p.Glu372Val) c.1346A>T (p.Glu449Val) c.-212+2063T>A (n.-212+2063T>A) | |
12 | g.52306149G>A | CA480065500 | KRT81,KRT86 | c.1116G>A (p.Glu372=) c.1347G>A (p.Glu449=) c.-212+2062C>T (n.-212+2062C>T) | |
12 | g.52306149G>C | CA384919026 | KRT81,KRT86 | c.1116G>C (p.Glu372Asp) c.1347G>C (p.Glu449Asp) c.-212+2062C>G (n.-212+2062C>G) | |
12 | g.52306149G>T | CA384919027 | KRT81,KRT86 | c.1116G>T (p.Glu372Asp) c.1347G>T (p.Glu449Asp) c.-212+2062C>A (n.-212+2062C>A) | |
12 | g.52306150G>A | CA384919028 | KRT81,KRT86 | c.1117G>A (p.Gly373Ser) c.1348G>A (p.Gly450Ser) c.-212+2061C>T (n.-212+2061C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306150G>C | CA384919029 | KRT81,KRT86 | c.1117G>C (p.Gly373Arg) c.1348G>C (p.Gly450Arg) c.-212+2061C>G (n.-212+2061C>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52306150G= | CA2036432471 | KRT81,KRT86 | c.1117G= (p.Gly373=) c.1348G= (p.Gly450=) c.-212+2061C= (n.-212+2061C=) | |
12 | g.52306150G>T | CA384919030 | KRT81,KRT86 | c.1117G>T (p.Gly373Cys) c.1348G>T (p.Gly450Cys) c.-212+2061C>A (n.-212+2061C>A) | dbSNP gnomAD v4 |
12 | g.52306151G>A | CA384919031 | KRT81,KRT86 | c.1118G>A (p.Gly373Asp) c.1349G>A (p.Gly450Asp) c.-212+2060C>T (n.-212+2060C>T) | |
12 | g.52306151G>C | CA384919032 | KRT81,KRT86 | c.1118G>C (p.Gly373Ala) c.1349G>C (p.Gly450Ala) c.-212+2060C>G (n.-212+2060C>G) | |
12 | g.52306151G= | CA2036432472 | KRT81,KRT86 | c.1118G= (p.Gly373=) c.1349G= (p.Gly450=) c.-212+2060C= (n.-212+2060C=) | |
12 | g.52306151G>T | CA6577084 | KRT81,KRT86 | c.1118G>T (p.Gly373Val) c.1349G>T (p.Gly450Val) c.-212+2060C>A (n.-212+2060C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52306152T>A | CA480065501 | KRT81,KRT86 | c.1119T>A (p.Gly373=) c.1350T>A (p.Gly450=) c.-212+2059A>T (n.-212+2059A>T) | dbSNP |
12 | g.52306152T>C | CA6577085 | KRT81,KRT86 | c.1119T>C (p.Gly373=) c.1350T>C (p.Gly450=) c.-212+2059A>G (n.-212+2059A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306152T>G | CA480065502 | KRT81,KRT86 | c.1119T>G (p.Gly373=) c.1350T>G (p.Gly450=) c.-212+2059A>C (n.-212+2059A>C) | dbSNP |
12 | g.52306152T= | CA2036432473 | KRT81,KRT86 | c.1119T= (p.Gly373=) c.1350T= (p.Gly450=) c.-212+2059A= (n.-212+2059A=) | |
12 | g.52306153G>A | CA384919034 | KRT81,KRT86 | c.1120G>A (p.Ala374Thr) c.1351G>A (p.Ala451Thr) c.-212+2058C>T (n.-212+2058C>T) | |
12 | g.52306153G>C | CA384919035 | KRT81,KRT86 | c.1120G>C (p.Ala374Pro) c.1351G>C (p.Ala451Pro) c.-212+2058C>G (n.-212+2058C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306153G= | CA2036432474 | KRT81,KRT86 | c.1120G= (p.Ala374=) c.1351G= (p.Ala451=) c.-212+2058C= (n.-212+2058C=) | |
12 | g.52306153G>T | CA384919033 | KRT81,KRT86 | c.1120G>T (p.Ala374Ser) c.1351G>T (p.Ala451Ser) c.-212+2058C>A (n.-212+2058C>A) | |
12 | g.52306154C>A | CA384919036 | KRT81,KRT86 | c.1121C>A (p.Ala374Asp) c.1352C>A (p.Ala451Asp) c.-212+2057G>T (n.-212+2057G>T) | |
12 | g.52306154C= | CA2036432475 | KRT81,KRT86 | c.1121C= (p.Ala374=) c.1352C= (p.Ala451=) c.-212+2057G= (n.-212+2057G=) | |
12 | g.52306154C>G | CA384919037 | KRT81,KRT86 | c.1121C>G (p.Ala374Gly) c.1352C>G (p.Ala451Gly) c.-212+2057G>C (n.-212+2057G>C) | |
12 | g.52306154C>T | CA384919038 | KRT81,KRT86 | c.1121C>T (p.Ala374Val) c.1352C>T (p.Ala451Val) c.-212+2057G>A (n.-212+2057G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306155C>A | CA480065507 | KRT81,KRT86 | c.1122C>A (p.Ala374=) c.1353C>A (p.Ala451=) c.-212+2056G>T (n.-212+2056G>T) | |
12 | g.52306155C>G | CA480065506 | KRT81,KRT86 | c.1122C>G (p.Ala374=) c.1353C>G (p.Ala451=) c.-212+2056G>C (n.-212+2056G>C) | |
12 | g.52306155C>T | CA480065505 | KRT81,KRT86 | c.1122C>T (p.Ala374=) c.1353C>T (p.Ala451=) c.-212+2056G>A (n.-212+2056G>A) | |
12 | g.52306156C>A | CA384919039 | KRT81,KRT86 | c.1123C>A (p.Leu375Met) c.1354C>A (p.Leu452Met) c.-212+2055G>T (n.-212+2055G>T) | gnomAD v4 |
12 | g.52306156C>G | CA384919040 | KRT81,KRT86 | c.1123C>G (p.Leu375Val) c.1354C>G (p.Leu452Val) c.-212+2055G>C (n.-212+2055G>C) | |
12 | g.52306156C>T | CA480065508 | KRT81,KRT86 | c.1123C>T (p.Leu375=) c.1354C>T (p.Leu452=) c.-212+2055G>A (n.-212+2055G>A) | |
12 | g.52306157T>A | CA384919041 | KRT81,KRT86 | c.1124T>A (p.Leu375Gln) c.1355T>A (p.Leu452Gln) c.-212+2054A>T (n.-212+2054A>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.52306157T>C | CA6577086 | KRT81,KRT86 | c.1124T>C (p.Leu375Pro) c.1355T>C (p.Leu452Pro) c.-212+2054A>G (n.-212+2054A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52306157T>G | CA384919042 | KRT81,KRT86 | c.1124T>G (p.Leu375Arg) c.1355T>G (p.Leu452Arg) c.-212+2054A>C (n.-212+2054A>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52306157T= | CA2036432476 | KRT81,KRT86 | c.1124T= (p.Leu375=) c.1355T= (p.Leu452=) c.-212+2054A= (n.-212+2054A=) | |
12 | g.52306158G>A | CA480065509 | KRT81,KRT86 | c.1125G>A (p.Leu375=) c.1356G>A (p.Leu452=) c.-212+2053C>T (n.-212+2053C>T) | |
12 | g.52306158G>C | CA480065510 | KRT81,KRT86 | c.1125G>C (p.Leu375=) c.1356G>C (p.Leu452=) c.-212+2053C>G (n.-212+2053C>G) | |
12 | g.52306158G>T | CA480065511 | KRT81,KRT86 | c.1125G>T (p.Leu375=) c.1356G>T (p.Leu452=) c.-212+2053C>A (n.-212+2053C>A) | |
12 | g.52306159C>A | CA384919043 | KRT81,KRT86 | c.1126C>A (p.Gln376Lys) c.1357C>A (p.Gln453Lys) c.-212+2052G>T (n.-212+2052G>T) | gnomAD v4 |
12 | g.52306159C>G | CA384919044 | KRT81,KRT86 | c.1126C>G (p.Gln376Glu) c.1357C>G (p.Gln453Glu) c.-212+2052G>C (n.-212+2052G>C) | |
12 | g.52306159C>T | CA384919045 | KRT81,KRT86 | c.1126C>T (p.Gln376Ter) c.1357C>T (p.Gln453Ter) c.-212+2052G>A (n.-212+2052G>A) | |
12 | g.52306160A>C | CA384919048 | KRT81,KRT86 | c.1127A>C (p.Gln376Pro) c.1358A>C (p.Gln453Pro) c.-212+2051T>G (n.-212+2051T>G) | gnomAD v4 |
12 | g.52306160A>G | CA384919047 | KRT81,KRT86 | c.1127A>G (p.Gln376Arg) c.1358A>G (p.Gln453Arg) c.-212+2051T>C (n.-212+2051T>C) | gnomAD v4 |
12 | g.52306160A>T | CA384919046 | KRT81,KRT86 | c.1127A>T (p.Gln376Leu) c.1358A>T (p.Gln453Leu) c.-212+2051T>A (n.-212+2051T>A) | |
12 | g.52306161G>A | CA479841259 | KRT81,KRT86 | c.1128G>A (p.Gln376=) c.1359G>A (p.Gln453=) c.-212+2050C>T (n.-212+2050C>T) | |
12 | g.52306161G>C | CA384919049 | KRT81,KRT86 | c.1128G>C (p.Gln376His) c.1359G>C (p.Gln453His) c.-212+2050C>G (n.-212+2050C>G) | |
12 | g.52306161G>T | CA384919050 | KRT81,KRT86 | c.1128G>T (p.Gln376His) c.1359G>T (p.Gln453His) c.-212+2050C>A (n.-212+2050C>A) | |
12 | g.52306162A>C | CA384919051 | KRT81,KRT86 | c.1129A>C (p.Lys377Gln) c.1360A>C (p.Lys454Gln) c.-212+2049T>G (n.-212+2049T>G) | |
12 | g.52306162A>G | CA384919052 | KRT81,KRT86 | c.1129A>G (p.Lys377Glu) c.1360A>G (p.Lys454Glu) c.-212+2049T>C (n.-212+2049T>C) | |
12 | g.52306162A>T | CA384919053 | KRT81,KRT86 | c.1129A>T (p.Lys377Ter) c.1360A>T (p.Lys454Ter) c.-212+2049T>A (n.-212+2049T>A) | |
12 | g.52306163A= | CA2036432477 | KRT81,KRT86 | c.1130A= (p.Lys377=) c.1361A= (p.Lys454=) c.-212+2048T= (n.-212+2048T=) | |
12 | g.52306163A>C | CA384919054 | KRT81,KRT86 | c.1130A>C (p.Lys377Thr) c.1361A>C (p.Lys454Thr) c.-212+2048T>G (n.-212+2048T>G) | |
12 | g.52306163A>G | CA384919055 | KRT81,KRT86 | c.1130A>G (p.Lys377Arg) c.1361A>G (p.Lys454Arg) c.-212+2048T>C (n.-212+2048T>C) | |
12 | g.52306163A>T | CA6577087 | KRT81,KRT86 | c.1130A>T (p.Lys377Met) c.1361A>T (p.Lys454Met) c.-212+2048T>A (n.-212+2048T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52306164G>A | CA479841270 | KRT81,KRT86 | c.1131G>A (p.Lys377=) c.1362G>A (p.Lys454=) c.-212+2047C>T (n.-212+2047C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306164G>C | CA384919056 | KRT81,KRT86 | c.1131G>C (p.Lys377Asn) c.1362G>C (p.Lys454Asn) c.-212+2047C>G (n.-212+2047C>G) | |
12 | g.52306164G= | CA2036432478 | KRT81,KRT86 | c.1131G= (p.Lys377=) c.1362G= (p.Lys454=) c.-212+2047C= (n.-212+2047C=) | |
12 | g.52306164G>T | CA6577088 | KRT81,KRT86 | c.1131G>T (p.Lys377Asn) c.1362G>T (p.Lys454Asn) c.-212+2047C>A (n.-212+2047C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52306165G>A | CA384919057 | KRT81,KRT86 | c.1132G>A (p.Ala378Thr) c.1363G>A (p.Ala455Thr) c.-212+2046C>T (n.-212+2046C>T) | |
12 | g.52306165G>C | CA384919058 | KRT81,KRT86 | c.1132G>C (p.Ala378Pro) c.1363G>C (p.Ala455Pro) c.-212+2046C>G (n.-212+2046C>G) | |
12 | g.52306165G>T | CA384919059 | KRT81,KRT86 | c.1132G>T (p.Ala378Ser) c.1363G>T (p.Ala455Ser) c.-212+2046C>A (n.-212+2046C>A) | |
12 | g.52306166C>A | CA384919061 | KRT81,KRT86 | c.1133C>A (p.Ala378Asp) c.1364C>A (p.Ala455Asp) c.-212+2045G>T (n.-212+2045G>T) | dbSNP |
12 | g.52306166C= | CA2036432479 | KRT81,KRT86 | c.1133C= (p.Ala378=) c.1364C= (p.Ala455=) c.-212+2045G= (n.-212+2045G=) | |
12 | g.52306166C>G | CA384919062 | KRT81,KRT86 | c.1133C>G (p.Ala378Gly) c.1364C>G (p.Ala455Gly) c.-212+2045G>C (n.-212+2045G>C) | |
12 | g.52306166C>T | CA384919060 | KRT81,KRT86 | c.1133C>T (p.Ala378Val) c.1364C>T (p.Ala455Val) c.-212+2045G>A (n.-212+2045G>A) | |
12 | g.52306167C>A | CA479841285 | KRT81,KRT86 | c.1134C>A (p.Ala378=) c.1365C>A (p.Ala455=) c.-212+2044G>T (n.-212+2044G>T) | COSMIC |
12 | g.52306167C>G | CA479841287 | KRT81,KRT86 | c.1134C>G (p.Ala378=) c.1365C>G (p.Ala455=) c.-212+2044G>C (n.-212+2044G>C) | |
12 | g.52306167C>T | CA479841289 | KRT81,KRT86 | c.1134C>T (p.Ala378=) c.1365C>T (p.Ala455=) c.-212+2044G>A (n.-212+2044G>A) | gnomAD v4 COSMIC |
12 | g.52306168A= | CA2036432480 | KRT81,KRT86 | c.1135A= (p.Lys379=) c.1366A= (p.Lys456=) c.-212+2043T= (n.-212+2043T=) | |
12 | g.52306168A>C | CA384919063 | KRT81,KRT86 | c.1135A>C (p.Lys379Gln) c.1366A>C (p.Lys456Gln) c.-212+2043T>G (n.-212+2043T>G) | |
12 | g.52306168A>G | CA237206448 | KRT81,KRT86 | c.1135A>G (p.Lys379Glu) c.1366A>G (p.Lys456Glu) c.-212+2043T>C (n.-212+2043T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52306168A>T | CA384919064 | KRT81,KRT86 | c.1135A>T (p.Lys379Ter) c.1366A>T (p.Lys456Ter) c.-212+2043T>A (n.-212+2043T>A) | |
12 | g.52306169A>C | CA384919065 | KRT81,KRT86 | c.1136A>C (p.Lys379Thr) c.1367A>C (p.Lys456Thr) c.-212+2042T>G (n.-212+2042T>G) | |
12 | g.52306169A>G | CA384919066 | KRT81,KRT86 | c.1136A>G (p.Lys379Arg) c.1367A>G (p.Lys456Arg) c.-212+2042T>C (n.-212+2042T>C) | |
12 | g.52306169A>T | CA384919067 | KRT81,KRT86 | c.1136A>T (p.Lys379Met) c.1367A>T (p.Lys456Met) c.-212+2042T>A (n.-212+2042T>A) | |
12 | g.52306170G>A | CA479841298 | KRT81,KRT86 | c.1137G>A (p.Lys379=) c.1368G>A (p.Lys456=) c.-212+2041C>T (n.-212+2041C>T) | |
12 | g.52306170G>C | CA384919068 | KRT81,KRT86 | c.1137G>C (p.Lys379Asn) c.1368G>C (p.Lys456Asn) c.-212+2041C>G (n.-212+2041C>G) | |
12 | g.52306170G>T | CA384919069 | KRT81,KRT86 | c.1137G>T (p.Lys379Asn) c.1368G>T (p.Lys456Asn) c.-212+2041C>A (n.-212+2041C>A) | |
12 | g.52306171C>A | CA384919070 | KRT81,KRT86 | c.1138C>A (p.Gln380Lys) c.1369C>A (p.Gln457Lys) c.-212+2040G>T (n.-212+2040G>T) | |
12 | g.52306171C>G | CA384919071 | KRT81,KRT86 | c.1138C>G (p.Gln380Glu) c.1369C>G (p.Gln457Glu) c.-212+2040G>C (n.-212+2040G>C) | gnomAD v4 |
12 | g.52306171C>T | CA384919072 | KRT81,KRT86 | c.1138C>T (p.Gln380Ter) c.1369C>T (p.Gln457Ter) c.-212+2040G>A (n.-212+2040G>A) | |
12 | g.52306172A>C | CA384919073 | KRT81,KRT86 | c.1139A>C (p.Gln380Pro) c.1370A>C (p.Gln457Pro) c.-212+2039T>G (n.-212+2039T>G) | |
12 | g.52306172A>G | CA384919074 | KRT81,KRT86 | c.1139A>G (p.Gln380Arg) c.1370A>G (p.Gln457Arg) c.-212+2039T>C (n.-212+2039T>C) | |
12 | g.52306172A>T | CA384919075 | KRT81,KRT86 | c.1139A>T (p.Gln380Leu) c.1370A>T (p.Gln457Leu) c.-212+2039T>A (n.-212+2039T>A) | |
12 | g.52306173G>A | CA479841311 | KRT81,KRT86 | c.1140G>A (p.Gln380=) c.1371G>A (p.Gln457=) c.-212+2038C>T (n.-212+2038C>T) | |
12 | g.52306173G>C | CA384919077 | KRT81,KRT86 | c.1140G>C (p.Gln380His) c.1371G>C (p.Gln457His) c.-212+2038C>G (n.-212+2038C>G) | |
12 | g.52306173G>T | CA384919076 | KRT81,KRT86 | c.1140G>T (p.Gln380His) c.1371G>T (p.Gln457His) c.-212+2038C>A (n.-212+2038C>A) | |
12 | g.52306174del | CA2575163453 | KRT81,KRT86 | c.1141del (p.Asp381ThrfsTer5) c.1372del (p.Asp458ThrfsTer5) c.-212+2038del (n.-212+2038del) | gnomAD v4 |
12 | g.52306174G>A | CA384919078 | KRT81,KRT86 | c.1141G>A (p.Asp381Asn) c.1372G>A (p.Asp458Asn) c.-212+2037C>T (n.-212+2037C>T) | gnomAD v4 |
12 | g.52306174G>C | CA384919079 | KRT81,KRT86 | c.1141G>C (p.Asp381His) c.1372G>C (p.Asp458His) c.-212+2037C>G (n.-212+2037C>G) | |
12 | g.52306174G= | CA2036432481 | KRT81,KRT86 | c.1141G= (p.Asp381=) c.1372G= (p.Asp458=) c.-212+2037C= (n.-212+2037C=) | |
12 | g.52306174G>T | CA384919080 | KRT81,KRT86 | c.1141G>T (p.Asp381Tyr) c.1372G>T (p.Asp458Tyr) c.-212+2037C>A (n.-212+2037C>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52306175A= | CA2036432482 | KRT81,KRT86 | c.1142A= (p.Asp381=) c.1373A= (p.Asp458=) c.-212+2036T= (n.-212+2036T=) | |
12 | g.52306175A>C | CA384919081 | KRT81,KRT86 | c.1142A>C (p.Asp381Ala) c.1373A>C (p.Asp458Ala) c.-212+2036T>G (n.-212+2036T>G) | |
12 | g.52306175A>G | CA384919082 | KRT81,KRT86 | c.1142A>G (p.Asp381Gly) c.1373A>G (p.Asp458Gly) c.-212+2036T>C (n.-212+2036T>C) | |
12 | g.52306175A>T | CA384919083 | KRT81,KRT86 | c.1142A>T (p.Asp381Val) c.1373A>T (p.Asp458Val) c.-212+2036T>A (n.-212+2036T>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52306176C>A | CA384919085 | KRT81,KRT86 | c.1143C>A (p.Asp381Glu) c.1374C>A (p.Asp458Glu) c.-212+2035G>T (n.-212+2035G>T) | |
12 | g.52306176C>G | CA384919084 | KRT81,KRT86 | c.1143C>G (p.Asp381Glu) c.1374C>G (p.Asp458Glu) c.-212+2035G>C (n.-212+2035G>C) | |
12 | g.52306176C>T | CA479841326 | KRT81,KRT86 | c.1143C>T (p.Asp381=) c.1374C>T (p.Asp458=) c.-212+2035G>A (n.-212+2035G>A) |