19 | g.13135900_13135953del | CA2582801220 | NACC1 | c.693_746del (p.Gln232_Ala249del)
| gnomAD v4 |
19 | g.13135896C>A | CA404325906 | NACC1 | c.689C>A (p.Ala230Glu)
| |
19 | g.13135896C>G | CA404325908 | NACC1 | c.689C>G (p.Ala230Gly)
| |
19 | g.13135896C>T | CA404325907 | NACC1 | c.689C>T (p.Ala230Val)
| gnomAD v4 |
19 | g.13135897A>C | CA505782739 | NACC1 | c.690A>C (p.Ala230=)
| |
19 | g.13135897A>G | CA505782737 | NACC1 | c.690A>G (p.Ala230=)
| |
19 | g.13135897A>T | CA505782736 | NACC1 | c.690A>T (p.Ala230=)
| |
19 | g.13135898G>A | CA404325909 | NACC1 | c.691G>A (p.Ala231Thr)
| |
19 | g.13135898G>C | CA404325910 | NACC1 | c.691G>C (p.Ala231Pro)
| |
19 | g.13135898G>T | CA404325911 | NACC1 | c.691G>T (p.Ala231Ser)
| |
19 | g.13135899C>A | CA404325912 | NACC1 | c.692C>A (p.Ala231Asp)
| gnomAD v4 |
19 | g.13135899C>G | CA404325913 | NACC1 | c.692C>G (p.Ala231Gly)
| |
19 | g.13135899C>T | CA404325914 | NACC1 | c.692C>T (p.Ala231Val)
| gnomAD v4 |
19 | g.13135900C>A | CA505782741 | NACC1 | c.693C>A (p.Ala231=)
| gnomAD v4 |
19 | g.13135900C>G | CA505782742 | NACC1 | c.693C>G (p.Ala231=)
| |
19 | g.13135900C>T | CA505782743 | NACC1 | c.693C>T (p.Ala231=)
| gnomAD v4 |
19 | g.13135901C>A | CA404325915 | NACC1 | c.694C>A (p.Gln232Lys)
| |
19 | g.13135901C>G | CA404325916 | NACC1 | c.694C>G (p.Gln232Glu)
| |
19 | g.13135901C>T | CA404325917 | NACC1 | c.694C>T (p.Gln232Ter)
| gnomAD v4 |
19 | g.13135902A>C | CA404325920 | NACC1 | c.695A>C (p.Gln232Pro)
| |
19 | g.13135902A>G | CA404325919 | NACC1 | c.695A>G (p.Gln232Arg)
| |
19 | g.13135902A>T | CA404325918 | NACC1 | c.695A>T (p.Gln232Leu)
| |
19 | g.13135903G>A | CA505782747 | NACC1 | c.696G>A (p.Gln232=)
| gnomAD v4 |
19 | g.13135903G>C | CA404325921 | NACC1 | c.696G>C (p.Gln232His)
| |
19 | g.13135903G>T | CA404325922 | NACC1 | c.696G>T (p.Gln232His)
| |
19 | g.13135904C>A | CA404325923 | NACC1 | c.697C>A (p.Pro233Thr)
| gnomAD v4 |
19 | g.13135904C>G | CA404325924 | NACC1 | c.697C>G (p.Pro233Ala)
| |
19 | g.13135904C>T | CA404325925 | NACC1 | c.697C>T (p.Pro233Ser)
| ClinVar |
19 | g.13135905C>A | CA404325926 | NACC1 | c.698C>A (p.Pro233His)
| |
19 | g.13135905C>G | CA404325927 | NACC1 | c.698C>G (p.Pro233Arg)
| |
19 | g.13135905C>T | CA404325928 | NACC1 | c.698C>T (p.Pro233Leu)
| |
19 | g.13135906C>A | CA505782748 | NACC1 | c.699C>A (p.Pro233=)
| dbSNP gnomAD v2 |
19 | g.13135906C= | CA2323741662 | NACC1 | c.699C= (p.Pro233=)
| |
19 | g.13135906C>G | CA505782749 | NACC1 | c.699C>G (p.Pro233=)
| |
19 | g.13135906C>T | CA9238308 | NACC1 | c.699C>T (p.Pro233=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135907G>A | CA404325929 | NACC1 | c.700G>A (p.Ala234Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135907G>C | CA404325930 | NACC1 | c.700G>C (p.Ala234Pro)
| |
19 | g.13135907G= | CA2323741663 | NACC1 | c.700G= (p.Ala234=)
| |
19 | g.13135907G>T | CA404325931 | NACC1 | c.700G>T (p.Ala234Ser)
| gnomAD v4 |
19 | g.13135908C>A | CA404325934 | NACC1 | c.701C>A (p.Ala234Asp)
| |
19 | g.13135908C>G | CA404325932 | NACC1 | c.701C>G (p.Ala234Gly)
| |
19 | g.13135908C>T | CA404325933 | NACC1 | c.701C>T (p.Ala234Val)
| |
19 | g.13135909C>A | CA505782752 | NACC1 | c.702C>A (p.Ala234=)
| gnomAD v4 |
19 | g.13135909C= | CA2323741664 | NACC1 | c.702C= (p.Ala234=)
| |
19 | g.13135909C>G | CA505782753 | NACC1 | c.702C>G (p.Ala234=)
| |
19 | g.13135909C>T | CA305553116 | NACC1 | c.702C>T (p.Ala234=)
| ClinVar dbSNP gnomAD v4 |
19 | g.13135910G>A | CA9238309 | NACC1 | c.703G>A (p.Val235Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13135910G>C | CA404325935 | NACC1 | c.703G>C (p.Val235Leu)
| |
19 | g.13135910G= | CA2323741665 | NACC1 | c.703G= (p.Val235=)
| |
19 | g.13135910G>T | CA404325936 | NACC1 | c.703G>T (p.Val235Leu)
| ClinVar |
19 | g.13135911T>A | CA404325937 | NACC1 | c.704T>A (p.Val235Glu)
| |
19 | g.13135911T>C | CA9238310 | NACC1 | c.704T>C (p.Val235Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13135911T>G | CA404325938 | NACC1 | c.704T>G (p.Val235Gly)
| |
19 | g.13135911T= | CA2323741666 | NACC1 | c.704T= (p.Val235=)
| |
19 | g.13135912G>A | CA505782757 | NACC1 | c.705G>A (p.Val235=)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135912G>C | CA505782758 | NACC1 | c.705G>C (p.Val235=)
| |
19 | g.13135912G= | CA2323741667 | NACC1 | c.705G= (p.Val235=)
| |
19 | g.13135912G>T | CA505782759 | NACC1 | c.705G>T (p.Val235=)
| |
19 | g.13135913G>A | CA404325939 | NACC1 | c.706G>A (p.Ala236Thr)
| |
19 | g.13135913G>C | CA404325940 | NACC1 | c.706G>C (p.Ala236Pro)
| |
19 | g.13135913G>T | CA404325941 | NACC1 | c.706G>T (p.Ala236Ser)
| gnomAD v4 |
19 | g.13135914C>A | CA404325942 | NACC1 | c.707C>A (p.Ala236Asp)
| |
19 | g.13135914C>G | CA404325943 | NACC1 | c.707C>G (p.Ala236Gly)
| |
19 | g.13135914C>T | CA404325944 | NACC1 | c.707C>T (p.Ala236Val)
| gnomAD v4 |
19 | g.13135915T>A | CA505782760 | NACC1 | c.708T>A (p.Ala236=)
| |
19 | g.13135915T>C | CA505782761 | NACC1 | c.708T>C (p.Ala236=)
| |
19 | g.13135915T>G | CA505782762 | NACC1 | c.708T>G (p.Ala236=)
| |
19 | g.13135916G>A | CA404325946 | NACC1 | c.709G>A (p.Ala237Thr)
| |
19 | g.13135916G>C | CA404325947 | NACC1 | c.709G>C (p.Ala237Pro)
| |
19 | g.13135916G>T | CA404325945 | NACC1 | c.709G>T (p.Ala237Ser)
| |
19 | g.13135917C>A | CA404325949 | NACC1 | c.710C>A (p.Ala237Glu)
| gnomAD v4 |
19 | g.13135917C= | CA2323741668 | NACC1 | c.710C= (p.Ala237=)
| |
19 | g.13135917C>G | CA404325948 | NACC1 | c.710C>G (p.Ala237Gly)
| |
19 | g.13135917C>T | CA9238311 | NACC1 | c.710C>T (p.Ala237Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.13135918G>A | CA305553140 | NACC1 | c.711G>A (p.Ala237=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135918G>C | CA505782765 | NACC1 | c.711G>C (p.Ala237=)
| |
19 | g.13135918G= | CA2323741669 | NACC1 | c.711G= (p.Ala237=)
| |
19 | g.13135918G>T | CA505782766 | NACC1 | c.711G>T (p.Ala237=)
| gnomAD v4 |
19 | g.13135919G>A | CA404325950 | NACC1 | c.712G>A (p.Gly238Arg)
| |
19 | g.13135919G>C | CA404325951 | NACC1 | c.712G>C (p.Gly238Arg)
| |
19 | g.13135919G>T | CA404325952 | NACC1 | c.712G>T (p.Gly238Ter)
| |
19 | g.13135920G>A | CA404325955 | NACC1 | c.713G>A (p.Gly238Glu)
| ClinVar dbSNP |
19 | g.13135920G>C | CA404325954 | NACC1 | c.713G>C (p.Gly238Ala)
| |
19 | g.13135920G>T | CA404325953 | NACC1 | c.713G>T (p.Gly238Val)
| |
19 | g.13135920_13135950delinsGAGCAGGGCAGCCAGCCGGTGGGGTGGCAGC | CA2323741670 | NACC1 | c.713_743delinsGAGCAGGGCAGCCAGCCGGTGGGGTGGCAGC (p.Gly238=)
| |
19 | g.13135921A>C | CA505782708 | NACC1 | c.714A>C (p.Gly238=)
| |
19 | g.13135921A>G | CA505782709 | NACC1 | c.714A>G (p.Gly238=)
| |
19 | g.13135921A>T | CA505782710 | NACC1 | c.714A>T (p.Gly238=)
| |
19 | g.13135928_13135957del | CA632122549 | NACC1 | c.721_750del (p.Gln241_Gly250del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135922G>A | CA9238312 | NACC1 | c.715G>A (p.Ala239Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135922G>C | CA404325956 | NACC1 | c.715G>C (p.Ala239Pro)
| |
19 | g.13135922G= | CA2323741671 | NACC1 | c.715G= (p.Ala239=)
| |
19 | g.13135922G>T | CA404325958 | NACC1 | c.715G>T (p.Ala239Ser)
| gnomAD v4 |
19 | g.13135923C>A | CA404325960 | NACC1 | c.716C>A (p.Ala239Glu)
| gnomAD v4 |
19 | g.13135923C= | CA2323741672 | NACC1 | c.716C= (p.Ala239=)
| |
19 | g.13135923C>G | CA404325961 | NACC1 | c.716C>G (p.Ala239Gly)
| |
19 | g.13135923C>T | CA305553146 | NACC1 | c.716C>T (p.Ala239Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135924A= | CA2323741673 | NACC1 | c.717A= (p.Ala239=)
| |
19 | g.13135924A>C | CA505782713 | NACC1 | c.717A>C (p.Ala239=)
| |
19 | g.13135924A>G | CA505782714 | NACC1 | c.717A>G (p.Ala239=)
| dbSNP gnomAD v4 |
19 | g.13135924A>T | CA505782715 | NACC1 | c.717A>T (p.Ala239=)
| |
19 | g.13135925G>A | CA404325964 | NACC1 | c.718G>A (p.Gly240Arg)
| |
19 | g.13135925G>C | CA404325968 | NACC1 | c.718G>C (p.Gly240Arg)
| |
19 | g.13135925G>T | CA404325966 | NACC1 | c.718G>T (p.Gly240Trp)
| |
19 | g.13135926G>A | CA404325970 | NACC1 | c.719G>A (p.Gly240Glu)
| dbSNP gnomAD v2 |
19 | g.13135926G>C | CA404325971 | NACC1 | c.719G>C (p.Gly240Ala)
| |
19 | g.13135926G= | CA2323741674 | NACC1 | c.719G= (p.Gly240=)
| |
19 | g.13135926G>T | CA404325973 | NACC1 | c.719G>T (p.Gly240Val)
| |
19 | g.13135927G>A | CA505782719 | NACC1 | c.720G>A (p.Gly240=)
| gnomAD v4 |
19 | g.13135927G>C | CA505782720 | NACC1 | c.720G>C (p.Gly240=)
| |
19 | g.13135927G>T | CA505782721 | NACC1 | c.720G>T (p.Gly240=)
| gnomAD v4 |
19 | g.13135928C>A | CA404325976 | NACC1 | c.721C>A (p.Gln241Lys)
| gnomAD v4 |
19 | g.13135928C>G | CA404325977 | NACC1 | c.721C>G (p.Gln241Glu)
| |
19 | g.13135928C>T | CA404325979 | NACC1 | c.721C>T (p.Gln241Ter)
| |
19 | g.13135929A= | CA2323741675 | NACC1 | c.722A= (p.Gln241=)
| |
19 | g.13135929A>C | CA404325981 | NACC1 | c.722A>C (p.Gln241Pro)
| |
19 | g.13135929A>G | CA404325983 | NACC1 | c.722A>G (p.Gln241Arg)
| dbSNP gnomAD v4 |
19 | g.13135929A>T | CA404325984 | NACC1 | c.722A>T (p.Gln241Leu)
| gnomAD v4 |
19 | g.13135930G>A | CA505782726 | NACC1 | c.723G>A (p.Gln241=)
| |
19 | g.13135930G>C | CA404325987 | NACC1 | c.723G>C (p.Gln241His)
| |
19 | g.13135930G>T | CA404325988 | NACC1 | c.723G>T (p.Gln241His)
| gnomAD v4 |
19 | g.13135931C>A | CA404325994 | NACC1 | c.724C>A (p.Pro242Thr)
| |
19 | g.13135931C= | CA2323741676 | NACC1 | c.724C= (p.Pro242=)
| |
19 | g.13135931C>G | CA404325992 | NACC1 | c.724C>G (p.Pro242Ala)
| |
19 | g.13135931C>T | CA404325991 | NACC1 | c.724C>T (p.Pro242Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135932C>A | CA404325995 | NACC1 | c.725C>A (p.Pro242Gln)
| |
19 | g.13135932C>G | CA404325997 | NACC1 | c.725C>G (p.Pro242Arg)
| |
19 | g.13135932C>T | CA404325999 | NACC1 | c.725C>T (p.Pro242Leu)
| |
19 | g.13135932_13135940del | CA2582801221 | NACC1 | c.725_733del (p.Pro242_Gly245delinsArg)
| gnomAD v4 |
19 | g.13135933A>C | CA505782730 | NACC1 | c.726A>C (p.Pro242=)
| |
19 | g.13135933A>G | CA505782731 | NACC1 | c.726A>G (p.Pro242=)
| |
19 | g.13135933A>T | CA505782732 | NACC1 | c.726A>T (p.Pro242=)
| |
19 | g.13135934G>A | CA404326001 | NACC1 | c.727G>A (p.Ala243Thr)
| |
19 | g.13135934G>C | CA404326002 | NACC1 | c.727G>C (p.Ala243Pro)
| |
19 | g.13135934G>T | CA404326004 | NACC1 | c.727G>T (p.Ala243Ser)
| gnomAD v4 |
19 | g.13135935C>A | CA404326006 | NACC1 | c.728C>A (p.Ala243Asp)
| dbSNP gnomAD v4 |
19 | g.13135935C= | CA2323741677 | NACC1 | c.728C= (p.Ala243=)
| |
19 | g.13135935C>G | CA404326008 | NACC1 | c.728C>G (p.Ala243Gly)
| |
19 | g.13135935C>T | CA404326010 | NACC1 | c.728C>T (p.Ala243Val)
| gnomAD v4 |
19 | g.13135936C>A | CA505782738 | NACC1 | c.729C>A (p.Ala243=)
| gnomAD v4 |
19 | g.13135936C= | CA2323741678 | NACC1 | c.729C= (p.Ala243=)
| |
19 | g.13135936C>G | CA505782740 | NACC1 | c.729C>G (p.Ala243=)
| |
19 | g.13135936C>T | CA9238313 | NACC1 | c.729C>T (p.Ala243=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135937G>A | CA305553165 | NACC1 | c.730G>A (p.Gly244Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.13135937G>C | CA404326013 | NACC1 | c.730G>C (p.Gly244Arg)
| |
19 | g.13135937G= | CA2323741679 | NACC1 | c.730G= (p.Gly244=)
| |
19 | g.13135937G>T | CA404326015 | NACC1 | c.730G>T (p.Gly244Cys)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.13135938G>A | CA404326019 | NACC1 | c.731G>A (p.Gly244Asp)
| |
19 | g.13135938G>C | CA404326021 | NACC1 | c.731G>C (p.Gly244Ala)
| |
19 | g.13135938G>T | CA404326017 | NACC1 | c.731G>T (p.Gly244Val)
| |
19 | g.13135939T>A | CA505782746 | NACC1 | c.732T>A (p.Gly244=)
| |
19 | g.13135939T>C | CA505782745 | NACC1 | c.732T>C (p.Gly244=)
| |
19 | g.13135939T>G | CA505782744 | NACC1 | c.732T>G (p.Gly244=)
| |
19 | g.13135940G>A | CA404326023 | NACC1 | c.733G>A (p.Gly245Arg)
| gnomAD v4 |
19 | g.13135940G>C | CA404326025 | NACC1 | c.733G>C (p.Gly245Arg)
| |
19 | g.13135940G>T | CA404326027 | NACC1 | c.733G>T (p.Gly245Trp)
| |
19 | g.13135943del | CA2582801222 | NACC1 | c.736del (p.Val246TrpfsTer8)
| gnomAD v4 |
19 | g.13135941G>A | CA404326029 | NACC1 | c.734G>A (p.Gly245Glu)
| gnomAD v4 |
19 | g.13135941G>C | CA404326032 | NACC1 | c.734G>C (p.Gly245Ala)
| |
19 | g.13135941G>T | CA404326034 | NACC1 | c.734G>T (p.Gly245Val)
| |
19 | g.13135942G>A | CA9238314 | NACC1 | c.735G>A (p.Gly245=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13135942G>C | CA505782750 | NACC1 | c.735G>C (p.Gly245=)
| |
19 | g.13135942G= | CA2323741680 | NACC1 | c.735G= (p.Gly245=)
| |
19 | g.13135942G>T | CA505782751 | NACC1 | c.735G>T (p.Gly245=)
| gnomAD v4 |
19 | g.13135943G>A | CA404326035 | NACC1 | c.736G>A (p.Val246Met)
| gnomAD v4 |
19 | g.13135943G>C | CA404326036 | NACC1 | c.736G>C (p.Val246Leu)
| |
19 | g.13135943G>T | CA404326038 | NACC1 | c.736G>T (p.Val246Leu)
| |
19 | g.13135944T>A | CA404326040 | NACC1 | c.737T>A (p.Val246Glu)
| |
19 | g.13135944T>C | CA404326041 | NACC1 | c.737T>C (p.Val246Ala)
| |
19 | g.13135944T>G | CA404326043 | NACC1 | c.737T>G (p.Val246Gly)
| dbSNP |
19 | g.13135944T= | CA2323741681 | NACC1 | c.737T= (p.Val246=)
| |
19 | g.13135945G>A | CA505782754 | NACC1 | c.738G>A (p.Val246=)
| |
19 | g.13135945G>C | CA505782756 | NACC1 | c.738G>C (p.Val246=)
| |
19 | g.13135945G>T | CA505782755 | NACC1 | c.738G>T (p.Val246=)
| |
19 | g.13135945_13135948delinsGGCA | CA2323741682 | NACC1 | c.738_741delinsGGCA (p.Val246=)
| |
19 | g.13135946G>A | CA404326049 | NACC1 | c.739G>A (p.Ala247Thr)
| gnomAD v4 COSMIC |
19 | g.13135946G>C | CA404326047 | NACC1 | c.739G>C (p.Ala247Pro)
| gnomAD v4 |
19 | g.13135946G>T | CA404326050 | NACC1 | c.739G>T (p.Ala247Ser)
| gnomAD v4 COSMIC |
19 | g.13135953_13135955del | CA9238315 | NACC1 | c.746_748del (p.Ala249del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13135947C>A | CA404326057 | NACC1 | c.740C>A (p.Ala247Glu)
| |
19 | g.13135947C>G | CA404326053 | NACC1 | c.740C>G (p.Ala247Gly)
| |
19 | g.13135947C>T | CA404326055 | NACC1 | c.740C>T (p.Ala247Val)
| |
19 | g.13135948A= | CA2323741683 | NACC1 | c.741A= (p.Ala247=)
| |
19 | g.13135948A>C | CA505782763 | NACC1 | c.741A>C (p.Ala247=)
| |
19 | g.13135948A>G | CA9238316 | NACC1 | c.741A>G (p.Ala247=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135948A>T | CA505782764 | NACC1 | c.741A>T (p.Ala247=)
| |
19 | g.13135949G>A | CA404326061 | NACC1 | c.742G>A (p.Ala248Thr)
| gnomAD v4 |
19 | g.13135949G>C | CA404326063 | NACC1 | c.742G>C (p.Ala248Pro)
| |
19 | g.13135949G>T | CA404326064 | NACC1 | c.742G>T (p.Ala248Ser)
| gnomAD v4 |
19 | g.13135950C>A | CA404326069 | NACC1 | c.743C>A (p.Ala248Glu)
| gnomAD v4 |
19 | g.13135950C= | CA2323741684 | NACC1 | c.743C= (p.Ala248=)
| |
19 | g.13135950C>G | CA404326068 | NACC1 | c.743C>G (p.Ala248Gly)
| |
19 | g.13135950C>T | CA305553180 | NACC1 | c.743C>T (p.Ala248Val)
| dbSNP gnomAD v4 |
19 | g.13135951A>C | CA505782767 | NACC1 | c.744A>C (p.Ala248=)
| |
19 | g.13135951A>G | CA505782768 | NACC1 | c.744A>G (p.Ala248=)
| |
19 | g.13135951A>T | CA505782769 | NACC1 | c.744A>T (p.Ala248=)
| |
19 | g.13135952G>A | CA305553185 | NACC1 | c.745G>A (p.Ala249Thr)
| dbSNP |
19 | g.13135952G>C | CA404326073 | NACC1 | c.745G>C (p.Ala249Pro)
| |
19 | g.13135952G= | CA2323741685 | NACC1 | c.745G= (p.Ala249=)
| |
19 | g.13135952G>T | CA404326074 | NACC1 | c.745G>T (p.Ala249Ser)
| gnomAD v4 |
19 | g.13135953C>A | CA404326077 | NACC1 | c.746C>A (p.Ala249Glu)
| gnomAD v4 |
19 | g.13135953C>G | CA404326079 | NACC1 | c.746C>G (p.Ala249Gly)
| ClinVar gnomAD v4 |
19 | g.13135953C>T | CA404326081 | NACC1 | c.746C>T (p.Ala249Val)
| |
19 | g.13135954A= | CA2323741686 | NACC1 | c.747A= (p.Ala249=)
| |
19 | g.13135954A>C | CA505782770 | NACC1 | c.747A>C (p.Ala249=)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135954A>G | CA505782771 | NACC1 | c.747A>G (p.Ala249=)
| gnomAD v4 |
19 | g.13135954A>T | CA505782772 | NACC1 | c.747A>T (p.Ala249=)
| |
19 | g.13135955G>A | CA404326083 | NACC1 | c.748G>A (p.Gly250Arg)
| |
19 | g.13135955G>C | CA404326086 | NACC1 | c.748G>C (p.Gly250Arg)
| |
19 | g.13135955G>T | CA404326084 | NACC1 | c.748G>T (p.Gly250Trp)
| |
19 | g.13135959del | CA2582801223 | NACC1 | c.752del (p.Gly251ValfsTer3)
| gnomAD v4 |
19 | g.13135956G>A | CA404326088 | NACC1 | c.749G>A (p.Gly250Glu)
| |
19 | g.13135956G>C | CA404326090 | NACC1 | c.749G>C (p.Gly250Ala)
| |
19 | g.13135956G>T | CA404326092 | NACC1 | c.749G>T (p.Gly250Val)
| gnomAD v4 |
19 | g.13135957G>A | CA505782773 | NACC1 | c.750G>A (p.Gly250=)
| |
19 | g.13135957G>C | CA505782775 | NACC1 | c.750G>C (p.Gly250=)
| |
19 | g.13135957G>T | CA505782774 | NACC1 | c.750G>T (p.Gly250=)
| |
19 | g.13135958G>A | CA404326095 | NACC1 | c.751G>A (p.Gly251Ser)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135958G>C | CA404326096 | NACC1 | c.751G>C (p.Gly251Arg)
| |
19 | g.13135958G= | CA2323741687 | NACC1 | c.751G= (p.Gly251=)
| |
19 | g.13135958G>T | CA9238317 | NACC1 | c.751G>T (p.Gly251Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135959G>A | CA404326099 | NACC1 | c.752G>A (p.Gly251Asp)
| dbSNP gnomAD v2 |
19 | g.13135959G>C | CA404326101 | NACC1 | c.752G>C (p.Gly251Ala)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.13135959G= | CA2323741688 | NACC1 | c.752G= (p.Gly251=)
| |
19 | g.13135959G>T | CA404326103 | NACC1 | c.752G>T (p.Gly251Val)
| gnomAD v4 |
19 | g.13135960T>A | CA505782776 | NACC1 | c.753T>A (p.Gly251=)
| |
19 | g.13135960T>C | CA505782777 | NACC1 | c.753T>C (p.Gly251=)
| |
19 | g.13135960T>G | CA505782778 | NACC1 | c.753T>G (p.Gly251=)
| dbSNP |
19 | g.13135960T= | CA2323741689 | NACC1 | c.753T= (p.Gly251=)
| |
19 | g.13135961G>A | CA404326105 | NACC1 | c.754G>A (p.Val252Met)
| ClinVar dbSNP gnomAD v4 |
19 | g.13135961G>C | CA404326106 | NACC1 | c.754G>C (p.Val252Leu)
| |
19 | g.13135961G= | CA2323741690 | NACC1 | c.754G= (p.Val252=)
| |
19 | g.13135961G>T | CA404326108 | NACC1 | c.754G>T (p.Val252Leu)
| gnomAD v4 |
19 | g.13135962T>A | CA404326115 | NACC1 | c.755T>A (p.Val252Glu)
| |
19 | g.13135962T>C | CA404326111 | NACC1 | c.755T>C (p.Val252Ala)
| gnomAD v4 |
19 | g.13135962T>G | CA404326113 | NACC1 | c.755T>G (p.Val252Gly)
| |
19 | g.13135963G>A | CA505782781 | NACC1 | c.756G>A (p.Val252=)
| |
19 | g.13135963G>C | CA505782782 | NACC1 | c.756G>C (p.Val252=)
| |
19 | g.13135963G>T | CA505782783 | NACC1 | c.756G>T (p.Val252=)
| |
19 | g.13135964G>A | CA404326117 | NACC1 | c.757G>A (p.Val253Met)
| gnomAD v4 |
19 | g.13135964G>C | CA404326119 | NACC1 | c.757G>C (p.Val253Leu)
| |
19 | g.13135964G= | CA2323741691 | NACC1 | c.757G= (p.Val253=)
| |
19 | g.13135964G>T | CA9238318 | NACC1 | c.757G>T (p.Val253Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13135965T>A | CA404326123 | NACC1 | c.758T>A (p.Val253Glu)
| gnomAD v4 |
19 | g.13135965T>C | CA404326125 | NACC1 | c.758T>C (p.Val253Ala)
| |
19 | g.13135965T>G | CA404326127 | NACC1 | c.758T>G (p.Val253Gly)
| |
19 | g.13135966G>A | CA505782784 | NACC1 | c.759G>A (p.Val253=)
| |
19 | g.13135966G>C | CA505782785 | NACC1 | c.759G>C (p.Val253=)
| |
19 | g.13135966G>T | CA505782786 | NACC1 | c.759G>T (p.Val253=)
| gnomAD v4 |
19 | g.13135967A>C | CA404326134 | NACC1 | c.760A>C (p.Ser254Arg)
| |
19 | g.13135967A>G | CA404326130 | NACC1 | c.760A>G (p.Ser254Gly)
| |
19 | g.13135967A>T | CA404326131 | NACC1 | c.760A>T (p.Ser254Cys)
| |
19 | g.13135968G>A | CA404326136 | NACC1 | c.761G>A (p.Ser254Asn)
| dbSNP gnomAD v2 |
19 | g.13135968G>C | CA404326138 | NACC1 | c.761G>C (p.Ser254Thr)
| |
19 | g.13135968G= | CA2323741692 | NACC1 | c.761G= (p.Ser254=)
| |
19 | g.13135968G>T | CA404326139 | NACC1 | c.761G>T (p.Ser254Ile)
| |
19 | g.13135969T>A | CA404326141 | NACC1 | c.762T>A (p.Ser254Arg)
| |
19 | g.13135969T>C | CA505782788 | NACC1 | c.762T>C (p.Ser254=)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.13135969T>G | CA404326143 | NACC1 | c.762T>G (p.Ser254Arg)
| |
19 | g.13135969T= | CA2323741693 | NACC1 | c.762T= (p.Ser254=)
| |
19 | g.13135970G>A | CA404326148 | NACC1 | c.763G>A (p.Gly255Arg)
| gnomAD v4 |
19 | g.13135970G>C | CA404326144 | NACC1 | c.763G>C (p.Gly255Arg)
| |
19 | g.13135970G>T | CA404326146 | NACC1 | c.763G>T (p.Gly255Trp)
| |
19 | g.13135971G>A | CA404326150 | NACC1 | c.764G>A (p.Gly255Glu)
| |
19 | g.13135971G>C | CA404326153 | NACC1 | c.764G>C (p.Gly255Ala)
| |
19 | g.13135971G>T | CA404326155 | NACC1 | c.764G>T (p.Gly255Val)
| |
19 | g.13135972G>A | CA505782789 | NACC1 | c.765G>A (p.Gly255=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.13135972G>C | CA505782790 | NACC1 | c.765G>C (p.Gly255=)
| |
19 | g.13135972G= | CA2323741694 | NACC1 | c.765G= (p.Gly255=)
| |
19 | g.13135972G>T | CA505782791 | NACC1 | c.765G>T (p.Gly255=)
| gnomAD v4 |
19 | g.13135973C>A | CA404326156 | NACC1 | c.766C>A (p.Pro256Thr)
| |
19 | g.13135973C>G | CA404326158 | NACC1 | c.766C>G (p.Pro256Ala)
| |
19 | g.13135973C>T | CA404326160 | NACC1 | c.766C>T (p.Pro256Ser)
| gnomAD v4 |
19 | g.13135974C>A | CA404326162 | NACC1 | c.767C>A (p.Pro256His)
| |
19 | g.13135974C= | CA2323741695 | NACC1 | c.767C= (p.Pro256=)
| |
19 | g.13135974C>G | CA404326164 | NACC1 | c.767C>G (p.Pro256Arg)
| |
19 | g.13135974C>T | CA404326166 | NACC1 | c.767C>T (p.Pro256Leu)
| dbSNP gnomAD v2 |
19 | g.13135975C>A | CA505782792 | NACC1 | c.768C>A (p.Pro256=)
| gnomAD v4 |
19 | g.13135975C= | CA2323741696 | NACC1 | c.768C= (p.Pro256=)
| |
19 | g.13135975C>G | CA505782793 | NACC1 | c.768C>G (p.Pro256=)
| |
19 | g.13135975C>T | CA505782794 | NACC1 | c.768C>T (p.Pro256=)
| ClinVar dbSNP |
19 | g.13135976A>C | CA404326168 | NACC1 | c.769A>C (p.Ser257Arg)
| |
19 | g.13135976A>G | CA404326171 | NACC1 | c.769A>G (p.Ser257Gly)
| |
19 | g.13135976A>T | CA404326172 | NACC1 | c.769A>T (p.Ser257Cys)
| |
19 | g.13135977G>A | CA404326178 | NACC1 | c.770G>A (p.Ser257Asn)
| gnomAD v4 |
19 | g.13135977G>C | CA404326174 | NACC1 | c.770G>C (p.Ser257Thr)
| |
19 | g.13135977G>T | CA404326176 | NACC1 | c.770G>T (p.Ser257Ile)
| |
19 | g.13135978C>A | CA404326180 | NACC1 | c.771C>A (p.Ser257Arg)
| gnomAD v4 |
19 | g.13135978C>G | CA404326181 | NACC1 | c.771C>G (p.Ser257Arg)
| |
19 | g.13135978C>T | CA505782796 | NACC1 | c.771C>T (p.Ser257=)
| gnomAD v4 |
19 | g.13135979A>C | CA404326183 | NACC1 | c.772A>C (p.Thr258Pro)
| |
19 | g.13135979A>G | CA404326184 | NACC1 | c.772A>G (p.Thr258Ala)
| |
19 | g.13135979A>T | CA404326185 | NACC1 | c.772A>T (p.Thr258Ser)
| |
19 | g.13135980C>A | CA404326186 | NACC1 | c.773C>A (p.Thr258Lys)
| |
19 | g.13135980C= | CA2323741697 | NACC1 | c.773C= (p.Thr258=)
| |
19 | g.13135980C>G | CA404326188 | NACC1 | c.773C>G (p.Thr258Arg)
| |
19 | g.13135980C>T | CA9238319 | NACC1 | c.773C>T (p.Thr258Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135981G>A | CA9238320 | NACC1 | c.774G>A (p.Thr258=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135981G>C | CA505782800 | NACC1 | c.774G>C (p.Thr258=)
| gnomAD v4 |
19 | g.13135981G= | CA2323741698 | NACC1 | c.774G= (p.Thr258=)
| |
19 | g.13135981G>T | CA505782801 | NACC1 | c.774G>T (p.Thr258=)
| gnomAD v4 |
19 | g.13135982T>A | CA404326193 | NACC1 | c.775T>A (p.Ser259Thr)
| |
19 | g.13135982T>C | CA404326195 | NACC1 | c.775T>C (p.Ser259Pro)
| |
19 | g.13135982T>G | CA404326197 | NACC1 | c.775T>G (p.Ser259Ala)
| |
19 | g.13135983C>A | CA404326200 | NACC1 | c.776C>A (p.Ser259Ter)
| |
19 | g.13135983C>G | CA404326201 | NACC1 | c.776C>G (p.Ser259Trp)
| |
19 | g.13135983C>T | CA404326203 | NACC1 | c.776C>T (p.Ser259Leu)
| gnomAD v4 |
19 | g.13135984G>A | CA505782804 | NACC1 | c.777G>A (p.Ser259=)
| ClinVar dbSNP gnomAD v4 |
19 | g.13135984G>C | CA305553221 | NACC1 | c.777G>C (p.Ser259=)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.13135984G= | CA2323741699 | NACC1 | c.777G= (p.Ser259=)
| |
19 | g.13135984G>T | CA505782805 | NACC1 | c.777G>T (p.Ser259=)
| |
19 | g.13135985G>A | CA404326205 | NACC1 | c.778G>A (p.Glu260Lys)
| |
19 | g.13135985G>C | CA404326207 | NACC1 | c.778G>C (p.Glu260Gln)
| |
19 | g.13135985G>T | CA404326206 | NACC1 | c.778G>T (p.Glu260Ter)
| |
19 | g.13135986A>C | CA404326214 | NACC1 | c.779A>C (p.Glu260Ala)
| |
19 | g.13135986A>G | CA404326217 | NACC1 | c.779A>G (p.Glu260Gly)
| |
19 | g.13135986A>T | CA404326218 | NACC1 | c.779A>T (p.Glu260Val)
| |
19 | g.13135987G>A | CA305553223 | NACC1 | c.780G>A (p.Glu260=)
| dbSNP gnomAD v4 |
19 | g.13135987G>C | CA404326220 | NACC1 | c.780G>C (p.Glu260Asp)
| |
19 | g.13135987G= | CA2323741700 | NACC1 | c.780G= (p.Glu260=)
| |
19 | g.13135987G>T | CA404326222 | NACC1 | c.780G>T (p.Glu260Asp)
| |
19 | g.13135988C>A | CA505782807 | NACC1 | c.781C>A (p.Arg261=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.13135988C= | CA2323741701 | NACC1 | c.781C= (p.Arg261=)
| |
19 | g.13135988C>G | CA404326224 | NACC1 | c.781C>G (p.Arg261Gly)
| |
19 | g.13135988C>T | CA9238321 | NACC1 | c.781C>T (p.Arg261Trp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13135989G>A | CA9238322 | NACC1 | c.782G>A (p.Arg261Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13135989G>C | CA404326229 | NACC1 | c.782G>C (p.Arg261Pro)
| |
19 | g.13135989G= | CA2323741702 | NACC1 | c.782G= (p.Arg261=)
| |
19 | g.13135989G>T | CA404326231 | NACC1 | c.782G>T (p.Arg261Leu)
| |
19 | g.13135990G>A | CA505782809 | NACC1 | c.783G>A (p.Arg261=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135990G>C | CA505782810 | NACC1 | c.783G>C (p.Arg261=)
| |
19 | g.13135990G= | CA2323741703 | NACC1 | c.783G= (p.Arg261=)
| |
19 | g.13135990G>T | CA505782811 | NACC1 | c.783G>T (p.Arg261=)
| |
19 | g.13135991A>C | CA404326237 | NACC1 | c.784A>C (p.Thr262Pro)
| |
19 | g.13135991A>G | CA404326236 | NACC1 | c.784A>G (p.Thr262Ala)
| gnomAD v4 |
19 | g.13135991A>T | CA404326234 | NACC1 | c.784A>T (p.Thr262Ser)
| |
19 | g.13135992C>A | CA404326242 | NACC1 | c.785C>A (p.Thr262Asn)
| |
19 | g.13135992C= | CA2323741704 | NACC1 | c.785C= (p.Thr262=)
| |
19 | g.13135992C>G | CA404326240 | NACC1 | c.785C>G (p.Thr262Ser)
| ClinVar dbSNP |
19 | g.13135992C>T | CA9238323 | NACC1 | c.785C>T (p.Thr262Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13135993C>A | CA505782813 | NACC1 | c.786C>A (p.Thr262=)
| ClinVar |
19 | g.13135993C>G | CA505782814 | NACC1 | c.786C>G (p.Thr262=)
| gnomAD v4 |
19 | g.13135993C>T | CA505782815 | NACC1 | c.786C>T (p.Thr262=)
| ClinVar |
19 | g.13135994A= | CA2323741705 | NACC1 | c.787A= (p.Ser263=)
| |
19 | g.13135994A>C | CA404326244 | NACC1 | c.787A>C (p.Ser263Arg)
| |
19 | g.13135994A>G | CA404326246 | NACC1 | c.787A>G (p.Ser263Gly)
| dbSNP |
19 | g.13135994A>T | CA404326247 | NACC1 | c.787A>T (p.Ser263Cys)
| |
19 | g.13135995G>A | CA404326251 | NACC1 | c.788G>A (p.Ser263Asn)
| |
19 | g.13135995G>C | CA404326252 | NACC1 | c.788G>C (p.Ser263Thr)
| |
19 | g.13135995G>T | CA404326254 | NACC1 | c.788G>T (p.Ser263Ile)
| |
19 | g.13135996C>A | CA404326257 | NACC1 | c.789C>A (p.Ser263Arg)
| |
19 | g.13135996C>G | CA404326260 | NACC1 | c.789C>G (p.Ser263Arg)
| |
19 | g.13135996C>T | CA505782818 | NACC1 | c.789C>T (p.Ser263=)
| gnomAD v4 |