6 | g.49459372A>C | CA364405771 | MMUT | c.95T>G (p.Leu32Arg)
| gnomAD v4 |
6 | g.49459372A>G | CA364405774 | MMUT | c.95T>C (p.Leu32Pro)
| |
6 | g.49459372A>T | CA364405772 | MMUT | c.95T>A (p.Leu32His)
| |
6 | g.49459373G>A | CA364405776 | MMUT | c.94C>T (p.Leu32Phe)
| |
6 | g.49459373G>C | CA364405778 | MMUT | c.94C>G (p.Leu32Val)
| gnomAD v4 |
6 | g.49459373G>T | CA364405777 | MMUT | c.94C>A (p.Leu32Ile)
| |
6 | g.49459374T>A | CA450609896 | MMUT | c.93A>T (p.Arg31=)
| |
6 | g.49459374T>C | CA450609900 | MMUT | c.93A>G (p.Arg31=)
| |
6 | g.49459374T>G | CA450609898 | MMUT | c.93A>C (p.Arg31=)
| |
6 | g.49459375C>A | CA364405779 | MMUT | c.92G>T (p.Arg31Leu)
| gnomAD v4 |
6 | g.49459375C= | CA1627397102 | MMUT | c.92G= (p.Arg31=)
| |
6 | g.49459375C>G | CA364405781 | MMUT | c.92G>C (p.Arg31Pro)
| |
6 | g.49459375C>T | CA364405783 | MMUT | c.92G>A (p.Arg31Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459376G>A | CA249743 | MMUT | c.91C>T (p.Arg31Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.49459376G>C | CA364405784 | MMUT | c.91C>G (p.Arg31Gly)
| |
6 | g.49459376G= | CA1627397107 | MMUT | c.91C= (p.Arg31=)
| |
6 | g.49459376G>T | CA450609905 | MMUT | c.91C>A (p.Arg31=)
| gnomAD v4 |
6 | g.49459377T>A | CA364405786 | MMUT | c.90A>T (p.Gln30His)
| |
6 | g.49459377T>C | CA450609906 | MMUT | c.90A>G (p.Gln30=)
| |
6 | g.49459377T>G | CA364405788 | MMUT | c.90A>C (p.Gln30His)
| |
6 | g.49459378T>A | CA364405789 | MMUT | c.89A>T (p.Gln30Leu)
| |
6 | g.49459378T>C | CA364405791 | MMUT | c.89A>G (p.Gln30Arg)
| |
6 | g.49459378T>G | CA364405792 | MMUT | c.89A>C (p.Gln30Pro)
| |
6 | g.49459379G>A | CA10575887 | MMUT | c.88C>T (p.Gln30Ter)
| ClinVar dbSNP |
6 | g.49459379G>C | CA364405794 | MMUT | c.88C>G (p.Gln30Glu)
| |
6 | g.49459379G= | CA1627397117 | MMUT | c.88C= (p.Gln30=)
| |
6 | g.49459379G>T | CA364405795 | MMUT | c.88C>A (p.Gln30Lys)
| |
6 | g.49459380C>A | CA364405797 | MMUT | c.87G>T (p.Gln29His)
| |
6 | g.49459380C= | CA1627397125 | MMUT | c.87G= (p.Gln29=)
| |
6 | g.49459380C>G | CA364405799 | MMUT | c.87G>C (p.Gln29His)
| |
6 | g.49459380C>T | CA10627193 | MMUT | c.87G>A (p.Gln29=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459381T>A | CA364405802 | MMUT | c.86A>T (p.Gln29Leu)
| |
6 | g.49459381T>C | CA364405803 | MMUT | c.86A>G (p.Gln29Arg)
| dbSNP |
6 | g.49459381T>G | CA364405805 | MMUT | c.86A>C (p.Gln29Pro)
| |
6 | g.49459382G>A | CA364405806 | MMUT | c.85C>T (p.Gln29Ter)
| |
6 | g.49459382G>C | CA364405807 | MMUT | c.85C>G (p.Gln29Glu)
| |
6 | g.49459382G>T | CA364405809 | MMUT | c.85C>A (p.Gln29Lys)
| |
6 | g.49459383T>A | CA450609917 | MMUT | c.84A>T (p.Ile28=)
| |
6 | g.49459383T>C | CA364405811 | MMUT | c.84A>G (p.Ile28Met)
| gnomAD v4 |
6 | g.49459383T>G | CA450609916 | MMUT | c.84A>C (p.Ile28=)
| |
6 | g.49459384A>C | CA364405813 | MMUT | c.83T>G (p.Ile28Arg)
| |
6 | g.49459384A>G | CA364405814 | MMUT | c.83T>C (p.Ile28Thr)
| |
6 | g.49459384A>T | CA364405816 | MMUT | c.83T>A (p.Ile28Lys)
| |
6 | g.49459385T>A | CA364405820 | MMUT | c.82A>T (p.Ile28Leu)
| gnomAD v4 |
6 | g.49459385T>C | CA364405818 | MMUT | c.82A>G (p.Ile28Val)
| COSMIC |
6 | g.49459385T>G | CA138801210 | MMUT | c.82A>C (p.Ile28Leu)
| dbSNP gnomAD v4 |
6 | g.49459385T= | CA1627397131 | MMUT | c.82A= (p.Ile28=)
| |
6 | g.49459388_49459400del | CA2695206703 | MMUT | c.70_82del (p.Gly24TyrfsTer24)
| |
6 | g.49459386G>A | CA450609923 | MMUT | c.81C>T (p.Leu27=)
| |
6 | g.49459386G>C | CA450609924 | MMUT | c.81C>G (p.Leu27=)
| |
6 | g.49459386G>T | CA450609926 | MMUT | c.81C>A (p.Leu27=)
| |
6 | g.49459387A>C | CA364405824 | MMUT | c.80T>G (p.Leu27Arg)
| |
6 | g.49459387A>G | CA364405821 | MMUT | c.80T>C (p.Leu27Pro)
| |
6 | g.49459387A>T | CA364405823 | MMUT | c.80T>A (p.Leu27His)
| |
6 | g.49459388G>A | CA364405826 | MMUT | c.79C>T (p.Leu27Phe)
| gnomAD v4 |
6 | g.49459388G>C | CA3847179 | MMUT | c.79C>G (p.Leu27Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459388G= | CA1627397135 | MMUT | c.79C= (p.Leu27=)
| |
6 | g.49459388G>T | CA364405827 | MMUT | c.79C>A (p.Leu27Ile)
| |
6 | g.49459389C>A | CA364405831 | MMUT | c.78G>T (p.Arg26Ser)
| gnomAD v4 |
6 | g.49459389C= | CA1627397139 | MMUT | c.78G= (p.Arg26=)
| |
6 | g.49459389C>G | CA364405829 | MMUT | c.78G>C (p.Arg26Ser)
| |
6 | g.49459389C>T | CA3847180 | MMUT | c.78G>A (p.Arg26=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459390C>A | CA364405832 | MMUT | c.77G>T (p.Arg26Met)
| gnomAD v4 |
6 | g.49459390C>G | CA364405834 | MMUT | c.77G>C (p.Arg26Thr)
| |
6 | g.49459390C>T | CA364405835 | MMUT | c.77G>A (p.Arg26Lys)
| |
6 | g.49459391T>A | CA364405837 | MMUT | c.76A>T (p.Arg26Trp)
| |
6 | g.49459391T>C | CA364405839 | MMUT | c.76A>G (p.Arg26Gly)
| |
6 | g.49459391T>G | CA3847181 | MMUT | c.76A>C (p.Arg26=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459391T= | CA1627397142 | MMUT | c.76A= (p.Arg26=)
| |
6 | g.49459392G>A | CA450609933 | MMUT | c.75C>T (p.Ser25=)
| ClinVar dbSNP gnomAD v2 |
6 | g.49459392G>C | CA450609935 | MMUT | c.75C>G (p.Ser25=)
| |
6 | g.49459392G= | CA1627397144 | MMUT | c.75C= (p.Ser25=)
| |
6 | g.49459392G>T | CA450609936 | MMUT | c.75C>A (p.Ser25=)
| |
6 | g.49459393G>A | CA364405841 | MMUT | c.74C>T (p.Ser25Phe)
| gnomAD v4 |
6 | g.49459393G>C | CA364405844 | MMUT | c.74C>G (p.Ser25Cys)
| |
6 | g.49459393G>T | CA364405842 | MMUT | c.74C>A (p.Ser25Tyr)
| |
6 | g.49459394A>C | CA364405845 | MMUT | c.73T>G (p.Ser25Ala)
| gnomAD v4 |
6 | g.49459394A>G | CA364405846 | MMUT | c.73T>C (p.Ser25Pro)
| |
6 | g.49459394A>T | CA364405848 | MMUT | c.73T>A (p.Ser25Thr)
| |
6 | g.49459395G>A | CA450609940 | MMUT | c.72C>T (p.Gly24=)
| gnomAD v4 |
6 | g.49459395G>C | CA450609941 | MMUT | c.72C>G (p.Gly24=)
| |
6 | g.49459395G>T | CA450609942 | MMUT | c.72C>A (p.Gly24=)
| |
6 | g.49459396C>A | CA364405849 | MMUT | c.71G>T (p.Gly24Val)
| gnomAD v4 |
6 | g.49459396C>G | CA364405850 | MMUT | c.71G>C (p.Gly24Ala)
| gnomAD v4 |
6 | g.49459396C>T | CA364405852 | MMUT | c.71G>A (p.Gly24Asp)
| |
6 | g.49459397C>A | CA364405854 | MMUT | c.70G>T (p.Gly24Cys)
| |
6 | g.49459397C>G | CA364405856 | MMUT | c.70G>C (p.Gly24Arg)
| |
6 | g.49459397C>T | CA364405857 | MMUT | c.70G>A (p.Gly24Ser)
| |
6 | g.49459398T>A | CA450609949 | MMUT | c.69A>T (p.Ser23=)
| |
6 | g.49459398T>C | CA450609950 | MMUT | c.69A>G (p.Ser23=)
| |
6 | g.49459398T>G | CA450609951 | MMUT | c.69A>C (p.Ser23=)
| |
6 | g.49459399G>A | CA364405858 | MMUT | c.68C>T (p.Ser23Leu)
| gnomAD v4 |
6 | g.49459399G>C | CA364405860 | MMUT | c.68C>G (p.Ser23Ter)
| |
6 | g.49459399G>T | CA364405862 | MMUT | c.68C>A (p.Ser23Ter)
| gnomAD v4 |
6 | g.49459400A>C | CA364405865 | MMUT | c.67T>G (p.Ser23Ala)
| gnomAD v4 |
6 | g.49459400A>G | CA364405866 | MMUT | c.67T>C (p.Ser23Pro)
| gnomAD v4 |
6 | g.49459400A>T | CA364405864 | MMUT | c.67T>A (p.Ser23Thr)
| |
6 | g.49459401T>A | CA450609954 | MMUT | c.66A>T (p.Ser22=)
| |
6 | g.49459401T>C | CA450609956 | MMUT | c.66A>G (p.Ser22=)
| |
6 | g.49459401T>G | CA450609958 | MMUT | c.66A>C (p.Ser22=)
| |
6 | g.49459402G>A | CA3847182 | MMUT | c.65C>T (p.Ser22Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459402G>C | CA364405869 | MMUT | c.65C>G (p.Ser22Ter)
| |
6 | g.49459402G= | CA1627397147 | MMUT | c.65C= (p.Ser22=)
| |
6 | g.49459402G>T | CA364405868 | MMUT | c.65C>A (p.Ser22Ter)
| |
6 | g.49459403A= | CA1627397149 | MMUT | c.64T= (p.Ser22=)
| |
6 | g.49459403A>C | CA364405870 | MMUT | c.64T>G (p.Ser22Ala)
| |
6 | g.49459403A>G | CA3847183 | MMUT | c.64T>C (p.Ser22Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459403A>T | CA364405871 | MMUT | c.64T>A (p.Ser22Thr)
| |
6 | g.49459404T>A | CA364405873 | MMUT | c.63A>T (p.Glu21Asp)
| |
6 | g.49459404T>C | CA450608976 | MMUT | c.63A>G (p.Glu21=)
| |
6 | g.49459404T>G | CA364405874 | MMUT | c.63A>C (p.Glu21Asp)
| |
6 | g.49459405T>A | CA364405876 | MMUT | c.62A>T (p.Glu21Val)
| |
6 | g.49459405T>C | CA364405878 | MMUT | c.62A>G (p.Glu21Gly)
| |
6 | g.49459405T>G | CA3847184 | MMUT | c.62A>C (p.Glu21Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459405T= | CA1627397151 | MMUT | c.62A= (p.Glu21=)
| |
6 | g.49459405_49459406delinsTC | CA1627397154 | MMUT | c.61_62delinsGA (p.Glu21=)
| |
6 | g.49459406del | CA567155987 | MMUT | c.61del (p.Glu21AsnfsTer?)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459406C>A | CA364405880 | MMUT | c.61G>T (p.Glu21Ter)
| ClinVar dbSNP |
6 | g.49459406C= | CA1627397158 | MMUT | c.61G= (p.Glu21=)
| |
6 | g.49459406C>G | CA364405882 | MMUT | c.61G>C (p.Glu21Gln)
| |
6 | g.49459406C>T | CA364405883 | MMUT | c.61G>A (p.Glu21Lys)
| |
6 | g.49459407T>A | CA364405885 | MMUT | c.60A>T (p.Lys20Asn)
| |
6 | g.49459407T>C | CA450608977 | MMUT | c.60A>G (p.Lys20=)
| dbSNP gnomAD v4 |
6 | g.49459407T>G | CA364405886 | MMUT | c.60A>C (p.Lys20Asn)
| |
6 | g.49459407T= | CA1627397163 | MMUT | c.60A= (p.Lys20=)
| |
6 | g.49459408T>A | CA364405887 | MMUT | c.59A>T (p.Lys20Ile)
| |
6 | g.49459408T>C | CA364405890 | MMUT | c.59A>G (p.Lys20Arg)
| dbSNP |
6 | g.49459408T>G | CA364405889 | MMUT | c.59A>C (p.Lys20Thr)
| |
6 | g.49459408T= | CA1627397166 | MMUT | c.59A= (p.Lys20=)
| |
6 | g.49459409T>A | CA364405892 | MMUT | c.58A>T (p.Lys20Ter)
| |
6 | g.49459409T>C | CA364405894 | MMUT | c.58A>G (p.Lys20Glu)
| dbSNP gnomAD v2 |
6 | g.49459409T>G | CA364405895 | MMUT | c.58A>C (p.Lys20Gln)
| |
6 | g.49459409T= | CA1627397171 | MMUT | c.58A= (p.Lys20=)
| |
6 | g.49459410T>A | CA450608978 | MMUT | c.57A>T (p.Val19=)
| |
6 | g.49459410T>C | CA450608979 | MMUT | c.57A>G (p.Val19=)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459410T>G | CA450608980 | MMUT | c.57A>C (p.Val19=)
| |
6 | g.49459410T= | CA1627397173 | MMUT | c.57A= (p.Val19=)
| |
6 | g.49459411A= | CA1627397179 | MMUT | c.56T= (p.Val19=)
| |
6 | g.49459411A>C | CA3847185 | MMUT | c.56T>G (p.Val19Gly)
| dbSNP ExAC gnomAD v2 |
6 | g.49459411A>G | CA364405897 | MMUT | c.56T>C (p.Val19Ala)
| |
6 | g.49459411A>T | CA364405898 | MMUT | c.56T>A (p.Val19Glu)
| |
6 | g.49459412C>A | CA364405901 | MMUT | c.55G>T (p.Val19Leu)
| gnomAD v4 |
6 | g.49459412C>G | CA364405902 | MMUT | c.55G>C (p.Val19Leu)
| gnomAD v4 |
6 | g.49459412C>T | CA364405903 | MMUT | c.55G>A (p.Val19Ile)
| |
6 | g.49459413dup | CA10575888 | MMUT | c.55dup (p.Val19GlyfsTer30)
| ClinVar dbSNP |
6 | g.49459413C>A | CA364405905 | MMUT | c.54G>T (p.Gln18His)
| |
6 | g.49459413C>G | CA364405907 | MMUT | c.54G>C (p.Gln18His)
| |
6 | g.49459413C>T | CA450608981 | MMUT | c.54G>A (p.Gln18=)
| |
6 | g.49459414T>A | CA364405908 | MMUT | c.53A>T (p.Gln18Leu)
| |
6 | g.49459414T>C | CA3847186 | MMUT | c.53A>G (p.Gln18Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459414T>G | CA364405910 | MMUT | c.53A>C (p.Gln18Pro)
| |
6 | g.49459414T= | CA1627397207 | MMUT | c.53A= (p.Gln18=)
| |
6 | g.49459415G>A | CA249725 | MMUT | c.52C>T (p.Gln18Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459415G>C | CA364405913 | MMUT | c.52C>G (p.Gln18Glu)
| |
6 | g.49459415G= | CA1627397211 | MMUT | c.52C= (p.Gln18=)
| |
6 | g.49459415G>T | CA364405914 | MMUT | c.52C>A (p.Gln18Lys)
| |
6 | g.49459416C>A | CA364405915 | MMUT | c.51G>T (p.Arg17Ser)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459416C= | CA1627397215 | MMUT | c.51G= (p.Arg17=)
| |
6 | g.49459416C>G | CA364405917 | MMUT | c.51G>C (p.Arg17Ser)
| |
6 | g.49459416C>T | CA450608982 | MMUT | c.51G>A (p.Arg17=)
| ClinVar |
6 | g.49459417C>A | CA364405918 | MMUT | c.50G>T (p.Arg17Met)
| |
6 | g.49459417C= | CA1627397219 | MMUT | c.50G= (p.Arg17=)
| |
6 | g.49459417C>G | CA364405920 | MMUT | c.50G>C (p.Arg17Thr)
| COSMIC |
6 | g.49459417C>T | CA138801257 | MMUT | c.50G>A (p.Arg17Lys)
| dbSNP |
6 | g.49459418T>A | CA364405922 | MMUT | c.49A>T (p.Arg17Trp)
| |
6 | g.49459418T>C | CA364405924 | MMUT | c.49A>G (p.Arg17Gly)
| |
6 | g.49459418T>G | CA450608983 | MMUT | c.49A>C (p.Arg17=)
| |
6 | g.49459419C>A | CA450608986 | MMUT | c.48G>T (p.Leu16=)
| |
6 | g.49459419C>G | CA450608984 | MMUT | c.48G>C (p.Leu16=)
| |
6 | g.49459419C>T | CA450608985 | MMUT | c.48G>A (p.Leu16=)
| |
6 | g.49459420A>C | CA364405927 | MMUT | c.47T>G (p.Leu16Arg)
| |
6 | g.49459420A>G | CA364405925 | MMUT | c.47T>C (p.Leu16Pro)
| gnomAD v4 |
6 | g.49459420A>T | CA364405926 | MMUT | c.47T>A (p.Leu16Gln)
| |
6 | g.49459421G>A | CA450608987 | MMUT | c.46C>T (p.Leu16=)
| gnomAD v4 |
6 | g.49459421G>C | CA3847187 | MMUT | c.46C>G (p.Leu16Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459421G= | CA1627397221 | MMUT | c.46C= (p.Leu16=)
| |
6 | g.49459421G>T | CA364405930 | MMUT | c.46C>A (p.Leu16Met)
| |
6 | g.49459422G>A | CA450608988 | MMUT | c.45C>T (p.Tyr15=)
| dbSNP |
6 | g.49459422G>C | CA364405931 | MMUT | c.45C>G (p.Tyr15Ter)
| gnomAD v4 |
6 | g.49459422G= | CA1627397224 | MMUT | c.45C= (p.Tyr15=)
| |
6 | g.49459422G>T | CA364405933 | MMUT | c.45C>A (p.Tyr15Ter)
| |
6 | g.49459423T>A | CA364405934 | MMUT | c.44A>T (p.Tyr15Phe)
| |
6 | g.49459423T>C | CA364405936 | MMUT | c.44A>G (p.Tyr15Cys)
| |
6 | g.49459423T>G | CA364405937 | MMUT | c.44A>C (p.Tyr15Ser)
| |
6 | g.49459424A= | CA1627397227 | MMUT | c.43T= (p.Tyr15=)
| |
6 | g.49459424A>C | CA364405939 | MMUT | c.43T>G (p.Tyr15Asp)
| |
6 | g.49459424A>G | CA364405941 | MMUT | c.43T>C (p.Tyr15His)
| |
6 | g.49459424A>T | CA364405942 | MMUT | c.43T>A (p.Tyr15Asn)
| dbSNP gnomAD v2 |
6 | g.49459425A= | CA1627397231 | MMUT | c.42T= (p.His14=)
| |
6 | g.49459425A>C | CA364405944 | MMUT | c.42T>G (p.His14Gln)
| |
6 | g.49459425A>G | CA450608989 | MMUT | c.42T>C (p.His14=)
| |
6 | g.49459425A>T | CA364405945 | MMUT | c.42T>A (p.His14Gln)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459426T>A | CA10627106 | MMUT | c.41A>T (p.His14Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459426T>C | CA364405948 | MMUT | c.41A>G (p.His14Arg)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459426T>G | CA364405947 | MMUT | c.41A>C (p.His14Pro)
| |
6 | g.49459426T= | CA1627397237 | MMUT | c.41A= (p.His14=)
| |
6 | g.49459427G>A | CA364405952 | MMUT | c.40C>T (p.His14Tyr)
| ClinVar dbSNP COSMIC |
6 | g.49459427G>C | CA364405951 | MMUT | c.40C>G (p.His14Asp)
| dbSNP |
6 | g.49459427G= | CA1627397247 | MMUT | c.40C= (p.His14=)
| |
6 | g.49459427G>T | CA3847188 | MMUT | c.40C>A (p.His14Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459428A>C | CA450608990 | MMUT | c.39T>G (p.Pro13=)
| gnomAD v4 |
6 | g.49459428A>G | CA450608991 | MMUT | c.39T>C (p.Pro13=)
| |
6 | g.49459428A>T | CA450608992 | MMUT | c.39T>A (p.Pro13=)
| |
6 | g.49459429G>A | CA16043606 | MMUT | c.38C>T (p.Pro13Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459429G>C | CA364405957 | MMUT | c.38C>G (p.Pro13Arg)
| |
6 | g.49459429G= | CA1627397250 | MMUT | c.38C= (p.Pro13=)
| |
6 | g.49459429G>T | CA364405955 | MMUT | c.38C>A (p.Pro13His)
| |
6 | g.49459430G>A | CA3847189 | MMUT | c.37C>T (p.Pro13Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459430G>C | CA364405960 | MMUT | c.37C>G (p.Pro13Ala)
| |
6 | g.49459430G= | CA1627397260 | MMUT | c.37C= (p.Pro13=)
| |
6 | g.49459430G>T | CA364405959 | MMUT | c.37C>A (p.Pro13Thr)
| |
6 | g.49459431T>A | CA450608993 | MMUT | c.36A>T (p.Ser12=)
| |
6 | g.49459431T>C | CA450608994 | MMUT | c.36A>G (p.Ser12=)
| |
6 | g.49459431T>G | CA450608995 | MMUT | c.36A>C (p.Ser12=)
| |
6 | g.49459432G>A | CA3847191 | MMUT | c.35C>T (p.Ser12Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459432G>C | CA3847190 | MMUT | c.35C>G (p.Ser12Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459432G= | CA1627397264 | MMUT | c.35C= (p.Ser12=)
| |
6 | g.49459432G>T | CA364405962 | MMUT | c.35C>A (p.Ser12Ter)
| |
6 | g.49459433A>C | CA364405965 | MMUT | c.34T>G (p.Ser12Ala)
| |
6 | g.49459433A>G | CA364405968 | MMUT | c.34T>C (p.Ser12Pro)
| |
6 | g.49459433A>T | CA364405966 | MMUT | c.34T>A (p.Ser12Thr)
| |
6 | g.49459434A>C | CA450608996 | MMUT | c.33T>G (p.Leu11=)
| |
6 | g.49459434A>G | CA450608997 | MMUT | c.33T>C (p.Leu11=)
| |
6 | g.49459434A>T | CA450608998 | MMUT | c.33T>A (p.Leu11=)
| |
6 | g.49459435A= | CA1627397277 | MMUT | c.32T= (p.Leu11=)
| |
6 | g.49459435A>C | CA364405969 | MMUT | c.32T>G (p.Leu11Arg)
| gnomAD v4 |
6 | g.49459435A>G | CA3847192 | MMUT | c.32T>C (p.Leu11Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459435A>T | CA364405970 | MMUT | c.32T>A (p.Leu11His)
| |
6 | g.49459436G>A | CA364405972 | MMUT | c.31C>T (p.Leu11Phe)
| gnomAD v4 |
6 | g.49459436G>C | CA364405975 | MMUT | c.31C>G (p.Leu11Val)
| |
6 | g.49459436G= | CA1627397283 | MMUT | c.31C= (p.Leu11=)
| |
6 | g.49459436G>T | CA364405974 | MMUT | c.31C>A (p.Leu11Ile)
| |
6 | g.49459437T>A | CA364405979 | MMUT | c.30A>T (p.Leu10Phe)
| |
6 | g.49459437T>C | CA450608999 | MMUT | c.30A>G (p.Leu10=)
| |
6 | g.49459437T>G | CA364405978 | MMUT | c.30A>C (p.Leu10Phe)
| |
6 | g.49459437T= | CA1627397291 | MMUT | c.30A= (p.Leu10=)
| |
6 | g.49459437dup | CA10575889 | MMUT | c.30dup (p.Leu11ThrfsTer?)
| ClinVar dbSNP |
6 | g.49459437_49459438insG | CA2679047398 | MMUT | c.29_30insC (p.Leu10PhefsTer?)
| gnomAD v4 |
6 | g.49459438A>C | CA364405980 | MMUT | c.29T>G (p.Leu10Ter)
| |
6 | g.49459438A>G | CA364405984 | MMUT | c.29T>C (p.Leu10Ser)
| gnomAD v4 |
6 | g.49459438A>T | CA364405982 | MMUT | c.29T>A (p.Leu10Ter)
| |
6 | g.49459444dup | CA567155988 | MMUT | c.29dup (p.Leu10PhefsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459444del | CA645546401 | MMUT | c.29del (p.Leu10TyrfsTer7)
| ClinVar dbSNP gnomAD v4 COSMIC |
6 | g.49459439A>C | CA364405985 | MMUT | c.28T>G (p.Leu10Val)
| |
6 | g.49459439A>G | CA450609000 | MMUT | c.28T>C (p.Leu10=)
| |
6 | g.49459439A>T | CA364405986 | MMUT | c.28T>A (p.Leu10Ile)
| |
6 | g.49459440A>C | CA364405988 | MMUT | c.27T>G (p.Phe9Leu)
| |
6 | g.49459440A>G | CA450609001 | MMUT | c.27T>C (p.Phe9=)
| |
6 | g.49459440A>T | CA364405990 | MMUT | c.27T>A (p.Phe9Leu)
| |
6 | g.49459441A>C | CA364405992 | MMUT | c.26T>G (p.Phe9Cys)
| |
6 | g.49459441A>G | CA364405993 | MMUT | c.26T>C (p.Phe9Ser)
| |
6 | g.49459441A>T | CA364405994 | MMUT | c.26T>A (p.Phe9Tyr)
| |
6 | g.49459442A= | CA1627397306 | MMUT | c.25T= (p.Phe9=)
| |
6 | g.49459442A>C | CA364405997 | MMUT | c.25T>G (p.Phe9Val)
| |
6 | g.49459442A>G | CA364405998 | MMUT | c.25T>C (p.Phe9Leu)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459442A>T | CA364405999 | MMUT | c.25T>A (p.Phe9Ile)
| |
6 | g.49459443A>C | CA450609002 | MMUT | c.24T>G (p.Leu8=)
| |
6 | g.49459443A>G | CA450609003 | MMUT | c.24T>C (p.Leu8=)
| |
6 | g.49459443A>T | CA450609004 | MMUT | c.24T>A (p.Leu8=)
| |
6 | g.49459444A>C | CA364406004 | MMUT | c.23T>G (p.Leu8Arg)
| |
6 | g.49459444A>G | CA364406002 | MMUT | c.23T>C (p.Leu8Pro)
| gnomAD v4 |
6 | g.49459444A>T | CA364406001 | MMUT | c.23T>A (p.Leu8His)
| gnomAD v4 |
6 | g.49459445del | CA2695206704 | MMUT | c.22del (p.Leu8PhefsTer9)
| |
6 | g.49459445G>A | CA364406006 | MMUT | c.22C>T (p.Leu8Phe)
| |
6 | g.49459445G>C | CA364406007 | MMUT | c.22C>G (p.Leu8Val)
| dbSNP gnomAD v4 |
6 | g.49459445G= | CA1627397308 | MMUT | c.22C= (p.Leu8=)
| |
6 | g.49459445G>T | CA364406009 | MMUT | c.22C>A (p.Leu8Ile)
| gnomAD v4 |
6 | g.49459446C>A | CA364406010 | MMUT | c.21G>T (p.Gln7His)
| |
6 | g.49459446C>G | CA364406012 | MMUT | c.21G>C (p.Gln7His)
| |
6 | g.49459446C>T | CA450609005 | MMUT | c.21G>A (p.Gln7=)
| |
6 | g.49459447T>A | CA364406013 | MMUT | c.20A>T (p.Gln7Leu)
| |
6 | g.49459447T>C | CA3847193 | MMUT | c.20A>G (p.Gln7Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459447T>G | CA364406015 | MMUT | c.20A>C (p.Gln7Pro)
| |
6 | g.49459447T= | CA1627397314 | MMUT | c.20A= (p.Gln7=)
| |
6 | g.49459448G>A | CA347859 | MMUT | c.19C>T (p.Gln7Ter)
| ClinVar dbSNP ExAC gnomAD v2 |
6 | g.49459448G>C | CA364406017 | MMUT | c.19C>G (p.Gln7Glu)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459448G= | CA1627397319 | MMUT | c.19C= (p.Gln7=)
| |
6 | g.49459448G>T | CA364406019 | MMUT | c.19C>A (p.Gln7Lys)
| |
6 | g.49459449A= | CA1627397321 | MMUT | c.18T= (p.Asn6=)
| |
6 | g.49459449A>C | CA364406021 | MMUT | c.18T>G (p.Asn6Lys)
| |
6 | g.49459449A>G | CA450609006 | MMUT | c.18T>C (p.Asn6=)
| |
6 | g.49459449A>T | CA3847194 | MMUT | c.18T>A (p.Asn6Lys)
| dbSNP ExAC gnomAD v4 |
6 | g.49459450T>A | CA364406023 | MMUT | c.17A>T (p.Asn6Ile)
| |
6 | g.49459450T>C | CA138801305 | MMUT | c.17A>G (p.Asn6Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459450T>G | CA364406026 | MMUT | c.17A>C (p.Asn6Thr)
| |
6 | g.49459450T= | CA1627397324 | MMUT | c.17A= (p.Asn6=)
| |
6 | g.49459451T>A | CA364406027 | MMUT | c.16A>T (p.Asn6Tyr)
| |
6 | g.49459451T>C | CA364406028 | MMUT | c.16A>G (p.Asn6Asp)
| |
6 | g.49459451T>G | CA364406030 | MMUT | c.16A>C (p.Asn6His)
| |
6 | g.49459451_49459452insA | CA2695206705 | MMUT | c.15_16insT (p.Asn6Ter)
| |
6 | g.49459452C>A | CA364406031 | MMUT | c.15G>T (p.Lys5Asn)
| |
6 | g.49459452C= | CA1627397333 | MMUT | c.15G= (p.Lys5=)
| |
6 | g.49459452C>G | CA364406032 | MMUT | c.15G>C (p.Lys5Asn)
| |
6 | g.49459452C>T | CA235518 | MMUT | c.15G>A (p.Lys5=)
| ClinVar dbSNP |
6 | g.49459453T>A | CA364406034 | MMUT | c.14A>T (p.Lys5Met)
| |
6 | g.49459453T>C | CA364406035 | MMUT | c.14A>G (p.Lys5Arg)
| |
6 | g.49459453T>G | CA364406037 | MMUT | c.14A>C (p.Lys5Thr)
| |
6 | g.49459454del | CA2679047399 | MMUT | c.14del (p.Lys5ArgfsTer12)
| gnomAD v4 |
6 | g.49459454T>A | CA364406043 | MMUT | c.13A>T (p.Lys5Ter)
| |
6 | g.49459454T>C | CA364406040 | MMUT | c.13A>G (p.Lys5Glu)
| gnomAD v4 |
6 | g.49459454T>G | CA364406041 | MMUT | c.13A>C (p.Lys5Gln)
| |
6 | g.49459455A>C | CA450609009 | MMUT | c.12T>G (p.Ala4=)
| |
6 | g.49459455A>G | CA450609008 | MMUT | c.12T>C (p.Ala4=)
| COSMIC |
6 | g.49459455A>T | CA450609007 | MMUT | c.12T>A (p.Ala4=)
| |
6 | g.49459456G>A | CA364406046 | MMUT | c.11C>T (p.Ala4Val)
| |
6 | g.49459456G>C | CA364406047 | MMUT | c.11C>G (p.Ala4Gly)
| |
6 | g.49459456G>T | CA364406049 | MMUT | c.11C>A (p.Ala4Asp)
| gnomAD v4 |
6 | g.49459457C>A | CA364406051 | MMUT | c.10G>T (p.Ala4Ser)
| |
6 | g.49459457C>G | CA364406052 | MMUT | c.10G>C (p.Ala4Pro)
| |
6 | g.49459457C>T | CA364406053 | MMUT | c.10G>A (p.Ala4Thr)
| |
6 | g.49459458T>A | CA364406055 | MMUT | c.9A>T (p.Arg3Ser)
| |
6 | g.49459458T>C | CA450609010 | MMUT | c.9A>G (p.Arg3=)
| |
6 | g.49459458T>G | CA364406056 | MMUT | c.9A>C (p.Arg3Ser)
| |
6 | g.49459459C>A | CA364406057 | MMUT | c.8G>T (p.Arg3Ile)
| |
6 | g.49459459C= | CA1627397338 | MMUT | c.8G= (p.Arg3=)
| |
6 | g.49459459C>G | CA364406058 | MMUT | c.8G>C (p.Arg3Thr)
| |
6 | g.49459459C>T | CA364406060 | MMUT | c.8G>A (p.Arg3Lys)
| dbSNP gnomAD v4 |
6 | g.49459459_49459460delinsCT | CA1627397336 | MMUT | c.7_8delinsAG (p.Arg3=)
| |
6 | g.49459460T>A | CA3847195 | MMUT | c.7A>T (p.Arg3Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459460T>C | CA364406063 | MMUT | c.7A>G (p.Arg3Gly)
| gnomAD v4 |
6 | g.49459460T>G | CA450609011 | MMUT | c.7A>C (p.Arg3=)
| |
6 | g.49459460T= | CA1627397343 | MMUT | c.7A= (p.Arg3=)
| |
6 | g.49459461del | CA235517 | MMUT | c.7del (p.Arg3GlufsTer14)
| ClinVar dbSNP |
6 | g.49459461T>A | CA364406066 | MMUT | c.6A>T (p.Leu2Phe)
| COSMIC |
6 | g.49459461T>C | CA450609012 | MMUT | c.6A>G (p.Leu2=)
| |
6 | g.49459461T>G | CA364406065 | MMUT | c.6A>C (p.Leu2Phe)
| |
6 | g.49459462A>C | CA364406068 | MMUT | c.5T>G (p.Leu2Ter)
| |
6 | g.49459462A>G | CA364406070 | MMUT | c.5T>C (p.Leu2Ser)
| |
6 | g.49459462A>T | CA364406071 | MMUT | c.5T>A (p.Leu2Ter)
| |
6 | g.49459463A>C | CA364406073 | MMUT | c.4T>G (p.Leu2Val)
| |
6 | g.49459463A>G | CA450609013 | MMUT | c.4T>C (p.Leu2=)
| |
6 | g.49459463A>T | CA364406074 | MMUT | c.4T>A (p.Leu2Ile)
| |
6 | g.49459464C>A | CA364406075 | MMUT | c.3G>T (p.Met1Ile)
| |
6 | g.49459464C= | CA1627397351 | MMUT | c.3G= (p.Met1=)
| |
6 | g.49459464C>G | CA364406077 | MMUT | c.3G>C (p.Met1Ile)
| |
6 | g.49459464C>T | CA364406079 | MMUT | c.3G>A (p.Met1Ile)
| dbSNP gnomAD v4 |
6 | g.49459465A= | CA1627397362 | MMUT | c.2T= (p.Met1=)
| |
6 | g.49459465A>C | CA364406081 | MMUT | c.2T>G (p.Met1Arg)
| |
6 | g.49459465A>G | CA10575890 | MMUT | c.2T>C (p.Met1Thr)
| ClinVar dbSNP gnomAD v4 |
6 | g.49459465A>T | CA364406082 | MMUT | c.2T>A (p.Met1Lys)
| |
6 | g.49459466T>A | CA364406085 | MMUT | c.1A>T (p.Met1Leu)
| |
6 | g.49459466T>C | CA364406084 | MMUT | c.1A>G (p.Met1Val)
| |
6 | g.49459466T>G | CA364406083 | MMUT | c.1A>C (p.Met1Leu)
| |
6 | g.49459467G>A | CA3847196 | MMUT | c.-1C>T (n.-1C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459467G= | CA1627397368 | MMUT | c.-1C= (n.-1C=)
| |
6 | g.49459468G>A | CA138801352 | MMUT | c.-2C>T (n.-2C>T)
| dbSNP |
6 | g.49459468G>C | CA3847197 | MMUT | c.-2C>G (n.-2C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459468G= | CA1627397375 | MMUT | c.-2C= (n.-2C=)
| |
6 | g.49459469T>C | CA567155989 | MMUT | c.-3A>G (n.-3A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459469T= | CA1627397380 | MMUT | c.-3A= (n.-3A=)
| |
6 | g.49459470G>T | CA2679047400 | MMUT | c.-4C>A (n.-4C>A)
| gnomAD v4 |
6 | g.49459471G>A | CA138801383 | MMUT | c.-5C>T (n.-5C>T)
| dbSNP gnomAD v4 |
6 | g.49459471G= | CA1627397382 | MMUT | c.-5C= (n.-5C=)
| |
6 | g.49459471G>T | CA2679047401 | MMUT | c.-5C>A (n.-5C>A)
| gnomAD v4 |
6 | g.49459472A= | CA1627397387 | MMUT | c.-6T= (n.-6T=)
| |
6 | g.49459472A>G | CA2770993607 | MMUT | c.-6T>C (n.-6T>C)
| |
6 | g.49459472A>T | CA235516 | MMUT | c.-6T>A (n.-6T>A)
| ClinVar dbSNP |