| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.65238478_65238538dup | CA6671015 | LEMD3 | c.1696-24_1732dup c.1693-24_1729dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65238534C>A | CA6671023 | LEMD3 | c.1728C>A (p.Asn576Lys) c.1725C>A (p.Asn575Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65238534C= | CA2042444234 | LEMD3 | c.1728C= (p.Asn576=) c.1725C= (p.Asn575=) | |
| 12 | g.65238534C>G | CA385670938 | LEMD3 | c.1728C>G (p.Asn576Lys) c.1725C>G (p.Asn575Lys) | |
| 12 | g.65238534C>T | CA480666079 | LEMD3 | c.1728C>T (p.Asn576=) c.1725C>T (p.Asn575=) | |
| 12 | g.65238535A= | CA2042444239 | LEMD3 | c.1729A= (p.Thr577=) c.1726A= (p.Thr576=) | |
| 12 | g.65238535A>C | CA385670939 | LEMD3 | c.1729A>C (p.Thr577Pro) c.1726A>C (p.Thr576Pro) | |
| 12 | g.65238535A>G | CA385670940 | LEMD3 | c.1729A>G (p.Thr577Ala) c.1726A>G (p.Thr576Ala) | ClinVar dbSNP gnomAD v4 |
| 12 | g.65238535A>T | CA6671024 | LEMD3 | c.1729A>T (p.Thr577Ser) c.1726A>T (p.Thr576Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.65238536C>A | CA385670942 | LEMD3 | c.1730C>A (p.Thr577Asn) c.1727C>A (p.Thr576Asn) | |
| 12 | g.65238536C>G | CA385670943 | LEMD3 | c.1730C>G (p.Thr577Ser) c.1727C>G (p.Thr576Ser) | |
| 12 | g.65238536C>T | CA385670941 | LEMD3 | c.1730C>T (p.Thr577Ile) c.1727C>T (p.Thr576Ile) | |
| 12 | g.65238537T>A | CA480666080 | LEMD3 | c.1731T>A (p.Thr577=) c.1728T>A (p.Thr576=) | |
| 12 | g.65238537T>C | CA480666081 | LEMD3 | c.1731T>C (p.Thr577=) c.1728T>C (p.Thr576=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.65238537T>G | CA480666082 | LEMD3 | c.1731T>G (p.Thr577=) c.1728T>G (p.Thr576=) | |
| 12 | g.65238537T= | CA2042444243 | LEMD3 | c.1731T= (p.Thr577=) c.1728T= (p.Thr576=) | |
| 12 | g.65238538_65238539insATTTTT | CA2619669434 | LEMD3 | c.1732_1733insATTTTT (p.Thr577_Ser578insTyrPhe) c.1729_1730insATTTTT (p.Thr576_Ser577insTyrPhe) | gnomAD v4 |
| 12 | g.65238538T>A | CA385670944 | LEMD3 | c.1732T>A (p.Ser578Thr) c.1729T>A (p.Ser577Thr) | |
| 12 | g.65238538T>C | CA385670945 | LEMD3 | c.1732T>C (p.Ser578Pro) c.1729T>C (p.Ser577Pro) | |
| 12 | g.65238538T>G | CA6671025 | LEMD3 | c.1732T>G (p.Ser578Ala) c.1729T>G (p.Ser577Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65238538T= | CA2042444246 | LEMD3 | c.1732T= (p.Ser578=) c.1729T= (p.Ser577=) | |
| 12 | g.65238538_65238539insATTTTTCTCTATTTTTCTTGTTAGGATTTAGGT | CA2619669435 | LEMD3 | c.1732_1733insATTTTTCTCTATTTTTCTTGTTAGGATTTAGGT (p.Thr577_Ser578insTyrPheSerLeuPhePheLeuLeuGlyPheArg) c.1729_1730insATTTTTCTCTATTTTTCTTGTTAGGATTTAGGT (p.Thr576_Ser577insTyrPheSerLeuPhePheLeuLeuGlyPheArg) | gnomAD v4 |
| 12 | g.65238539C>A | CA385670946 | LEMD3 | c.1733C>A (p.Ser578Ter) c.1730C>A (p.Ser577Ter) | gnomAD v4 |
| 12 | g.65238539C= | CA2042444255 | LEMD3 | c.1733C= (p.Ser578=) c.1730C= (p.Ser577=) | |
| 12 | g.65238539C>G | CA385670947 | LEMD3 | c.1733C>G (p.Ser578Ter) c.1730C>G (p.Ser577Ter) | |
| 12 | g.65238539C>T | CA385670948 | LEMD3 | c.1733C>T (p.Ser578Leu) c.1730C>T (p.Ser577Leu) | dbSNP |
| 12 | g.65238539_65238540insTCTATTTTTCTTGTTAGGATTTAGGTCCTGA | CA2619669436 | LEMD3 | c.1733_1734insTCTATTTTTCTTGTTAGGATTTAGGTCCTGA (p.Gln580PhefsTer9) c.1730_1731insTCTATTTTTCTTGTTAGGATTTAGGTCCTGA (p.Gln579PhefsTer9) | gnomAD v4 |
| 12 | g.65238540A= | CA2042444259 | LEMD3 | c.1734A= (p.Ser578=) c.1731A= (p.Ser577=) | |
| 12 | g.65238540A>C | CA480666083 | LEMD3 | c.1734A>C (p.Ser578=) c.1731A>C (p.Ser577=) | dbSNP gnomAD v4 |
| 12 | g.65238540A>G | CA480666085 | LEMD3 | c.1734A>G (p.Ser578=) c.1731A>G (p.Ser577=) | |
| 12 | g.65238540A>T | CA480666084 | LEMD3 | c.1734A>T (p.Ser578=) c.1731A>T (p.Ser577=) | |
| 12 | g.65238541T>A | CA385670950 | LEMD3 | c.1735T>A (p.Leu579Met) c.1732T>A (p.Leu578Met) | |
| 12 | g.65238541T>C | CA6671026 | LEMD3 | c.1735T>C (p.Leu579=) c.1732T>C (p.Leu578=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.65238541T>G | CA385670949 | LEMD3 | c.1735T>G (p.Leu579Val) c.1732T>G (p.Leu578Val) | |
| 12 | g.65238541T= | CA2042444263 | LEMD3 | c.1735T= (p.Leu579=) c.1732T= (p.Leu578=) | |
| 12 | g.65238542T>A | CA385670951 | LEMD3 | c.1736T>A (p.Leu579Ter) c.1733T>A (p.Leu578Ter) | |
| 12 | g.65238542T>C | CA385670952 | LEMD3 | c.1736T>C (p.Leu579Ser) c.1733T>C (p.Leu578Ser) | |
| 12 | g.65238542T>G | CA385670953 | LEMD3 | c.1736T>G (p.Leu579Trp) c.1733T>G (p.Leu578Trp) | |
| 12 | g.65238543G>A | CA480666086 | LEMD3 | c.1737G>A (p.Leu579=) c.1734G>A (p.Leu578=) | |
| 12 | g.65238543G>C | CA385670954 | LEMD3 | c.1737G>C (p.Leu579Phe) c.1734G>C (p.Leu578Phe) | |
| 12 | g.65238543G>T | CA385670955 | LEMD3 | c.1737G>T (p.Leu579Phe) c.1734G>T (p.Leu578Phe) | COSMIC |
| 12 | g.65238544C>A | CA385670958 | LEMD3 | c.1738C>A (p.Gln580Lys) c.1735C>A (p.Gln579Lys) | |
| 12 | g.65238544C>G | CA385670956 | LEMD3 | c.1738C>G (p.Gln580Glu) c.1735C>G (p.Gln579Glu) | |
| 12 | g.65238544C>T | CA385670957 | LEMD3 | c.1738C>T (p.Gln580Ter) c.1735C>T (p.Gln579Ter) | |
| 12 | g.65238545A>C | CA385670959 | LEMD3 | c.1739A>C (p.Gln580Pro) c.1736A>C (p.Gln579Pro) | |
| 12 | g.65238545A>G | CA385670960 | LEMD3 | c.1739A>G (p.Gln580Arg) c.1736A>G (p.Gln579Arg) | dbSNP |
| 12 | g.65238545A>T | CA385670961 | LEMD3 | c.1739A>T (p.Gln580Leu) c.1736A>T (p.Gln579Leu) | |
| 12 | g.65238546G>A | CA480666087 | LEMD3 | c.1740G>A (p.Gln580=) c.1737G>A (p.Gln579=) | |
| 12 | g.65238546G>C | CA385670962 | LEMD3 | c.1740G>C (p.Gln580His) c.1737G>C (p.Gln579His) | |
| 12 | g.65238546G>T | CA385670963 | LEMD3 | c.1740G>T (p.Gln580His) c.1737G>T (p.Gln579His) | |
| 12 | g.65238547T>A | CA385670966 | LEMD3 | c.1741T>A (p.Trp581Arg) c.1738T>A (p.Trp580Arg) | |
| 12 | g.65238547T>C | CA385670965 | LEMD3 | c.1741T>C (p.Trp581Arg) c.1738T>C (p.Trp580Arg) | |
| 12 | g.65238547T>G | CA385670964 | LEMD3 | c.1741T>G (p.Trp581Gly) c.1738T>G (p.Trp580Gly) | |
| 12 | g.65238548G>A | CA385670967 | LEMD3 | c.1742G>A (p.Trp581Ter) c.1739G>A (p.Trp580Ter) | |
| 12 | g.65238548G>C | CA385670968 | LEMD3 | c.1742G>C (p.Trp581Ser) c.1739G>C (p.Trp580Ser) | |
| 12 | g.65238548G>T | CA385670969 | LEMD3 | c.1742G>T (p.Trp581Leu) c.1739G>T (p.Trp580Leu) | |
| 12 | g.65238549G>A | CA385670970 | LEMD3 | c.1743G>A (p.Trp581Ter) c.1740G>A (p.Trp580Ter) | |
| 12 | g.65238549G>C | CA385670971 | LEMD3 | c.1743G>C (p.Trp581Cys) c.1740G>C (p.Trp580Cys) | |
| 12 | g.65238549G>T | CA385670972 | LEMD3 | c.1743G>T (p.Trp581Cys) c.1740G>T (p.Trp580Cys) | gnomAD v4 |
| 12 | g.65238550A= | CA2042444264 | LEMD3 | c.1744A= (p.Ile582=) c.1741A= (p.Ile581=) | |
| 12 | g.65238550A>C | CA385670973 | LEMD3 | c.1744A>C (p.Ile582Leu) c.1741A>C (p.Ile581Leu) | |
| 12 | g.65238550A>G | CA6671027 | LEMD3 | c.1744A>G (p.Ile582Val) c.1741A>G (p.Ile581Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65238550A>T | CA385670974 | LEMD3 | c.1744A>T (p.Ile582Phe) c.1741A>T (p.Ile581Phe) | |
| 12 | g.65238551T>A | CA385670975 | LEMD3 | c.1745T>A (p.Ile582Asn) c.1742T>A (p.Ile581Asn) | |
| 12 | g.65238551T>C | CA385670976 | LEMD3 | c.1745T>C (p.Ile582Thr) c.1742T>C (p.Ile581Thr) | |
| 12 | g.65238551T>G | CA385670977 | LEMD3 | c.1745T>G (p.Ile582Ser) c.1742T>G (p.Ile581Ser) | |
| 12 | g.65238552C>A | CA480666088 | LEMD3 | c.1746C>A (p.Ile582=) c.1743C>A (p.Ile581=) | |
| 12 | g.65238552C= | CA2042444270 | LEMD3 | c.1746C= (p.Ile582=) c.1743C= (p.Ile581=) | |
| 12 | g.65238552C>G | CA385670978 | LEMD3 | c.1746C>G (p.Ile582Met) c.1743C>G (p.Ile581Met) | |
| 12 | g.65238552C>T | CA6671028 | LEMD3 | c.1746C>T (p.Ile582=) c.1743C>T (p.Ile581=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65238553T>A | CA6671029 | LEMD3 | c.1747T>A (p.Leu583Ile) c.1744T>A (p.Leu582Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.65238553T>C | CA480666089 | LEMD3 | c.1747T>C (p.Leu583=) c.1744T>C (p.Leu582=) | |
| 12 | g.65238553T>G | CA385670979 | LEMD3 | c.1747T>G (p.Leu583Val) c.1744T>G (p.Leu582Val) | |
| 12 | g.65238553T= | CA2042444275 | LEMD3 | c.1747T= (p.Leu583=) c.1744T= (p.Leu582=) | |
| 12 | g.65238554T>A | CA385670980 | LEMD3 | c.1748T>A (p.Leu583Ter) c.1745T>A (p.Leu582Ter) | |
| 12 | g.65238554T>C | CA385670981 | LEMD3 | c.1748T>C (p.Leu583Ser) c.1745T>C (p.Leu582Ser) | |
| 12 | g.65238554T>G | CA385670982 | LEMD3 | c.1748T>G (p.Leu583Ter) c.1745T>G (p.Leu582Ter) | |
| 12 | g.65238555A>C | CA385670983 | LEMD3 | c.1749A>C (p.Leu583Phe) c.1746A>C (p.Leu582Phe) | |
| 12 | g.65238555A>G | CA480666090 | LEMD3 | c.1749A>G (p.Leu583=) c.1746A>G (p.Leu582=) | |
| 12 | g.65238555A>T | CA385670984 | LEMD3 | c.1749A>T (p.Leu583Phe) c.1746A>T (p.Leu582Phe) | |
| 12 | g.65238556G>A | CA385670986 | LEMD3 | c.1750G>A (p.Glu584Lys) c.1747G>A (p.Glu583Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65238556G>C | CA385670987 | LEMD3 | c.1750G>C (p.Glu584Gln) c.1747G>C (p.Glu583Gln) | |
| 12 | g.65238556G= | CA2042444280 | LEMD3 | c.1750G= (p.Glu584=) c.1747G= (p.Glu583=) | |
| 12 | g.65238556G>T | CA385670985 | LEMD3 | c.1750G>T (p.Glu584Ter) c.1747G>T (p.Glu583Ter) | |
| 12 | g.65238557A= | CA2042444284 | LEMD3 | c.1751A= (p.Glu584=) c.1748A= (p.Glu583=) | |
| 12 | g.65238557A>C | CA385670988 | LEMD3 | c.1751A>C (p.Glu584Ala) c.1748A>C (p.Glu583Ala) | |
| 12 | g.65238557A>G | CA6671030 | LEMD3 | c.1751A>G (p.Glu584Gly) c.1748A>G (p.Glu583Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65238557A>T | CA385670989 | LEMD3 | c.1751A>T (p.Glu584Val) c.1748A>T (p.Glu583Val) | |
| 12 | g.65238560dup | CA2695217043 | LEMD3 | c.1754dup (p.Asn585LysfsTer15) c.1751dup (p.Asn584LysfsTer15) | |
| 12 | g.65238558A>C | CA385670990 | LEMD3 | c.1752A>C (p.Glu584Asp) c.1749A>C (p.Glu583Asp) | |
| 12 | g.65238558A>G | CA480666091 | LEMD3 | c.1752A>G (p.Glu584=) c.1749A>G (p.Glu583=) | gnomAD v4 |
| 12 | g.65238558A>T | CA385670991 | LEMD3 | c.1752A>T (p.Glu584Asp) c.1749A>T (p.Glu583Asp) | |
| 12 | g.65238559A= | CA2042444290 | LEMD3 | c.1753A= (p.Asn585=) c.1750A= (p.Asn584=) | |
| 12 | g.65238559A>C | CA385670994 | LEMD3 | c.1753A>C (p.Asn585His) c.1750A>C (p.Asn584His) | |
| 12 | g.65238559A>G | CA385670992 | LEMD3 | c.1753A>G (p.Asn585Asp) c.1750A>G (p.Asn584Asp) | dbSNP |
| 12 | g.65238559A>T | CA385670993 | LEMD3 | c.1753A>T (p.Asn585Tyr) c.1750A>T (p.Asn584Tyr) | |
| 12 | g.65238560A>C | CA385670995 | LEMD3 | c.1754A>C (p.Asn585Thr) c.1751A>C (p.Asn584Thr) | |
| 12 | g.65238560A>G | CA385670996 | LEMD3 | c.1754A>G (p.Asn585Ser) c.1751A>G (p.Asn584Ser) | |
| 12 | g.65238560A>T | CA385670997 | LEMD3 | c.1754A>T (p.Asn585Ile) c.1751A>T (p.Asn584Ile) | |
| 12 | g.65238561T>A | CA385670998 | LEMD3 | c.1755T>A (p.Asn585Lys) c.1752T>A (p.Asn584Lys) | |
| 12 | g.65238561T>C | CA480666092 | LEMD3 | c.1755T>C (p.Asn585=) c.1752T>C (p.Asn584=) | |
| 12 | g.65238561T>G | CA385670999 | LEMD3 | c.1755T>G (p.Asn585Lys) c.1752T>G (p.Asn584Lys) | |
| 12 | g.65238562G>A | CA385671000 | LEMD3 | c.1756G>A (p.Gly586Arg) c.1753G>A (p.Gly585Arg) | |
| 12 | g.65238562G>C | CA385671002 | LEMD3 | c.1756G>C (p.Gly586Arg) c.1753G>C (p.Gly585Arg) | |
| 12 | g.65238562G>T | CA385671001 | LEMD3 | c.1756G>T (p.Gly586Ter) c.1753G>T (p.Gly585Ter) | |
| 12 | g.65238563G>A | CA385671003 | LEMD3 | c.1757G>A (p.Gly586Glu) c.1754G>A (p.Gly585Glu) | dbSNP |
| 12 | g.65238563G>C | CA385671004 | LEMD3 | c.1757G>C (p.Gly586Ala) c.1754G>C (p.Gly585Ala) | |
| 12 | g.65238563G= | CA2042444294 | LEMD3 | c.1757G= (p.Gly586=) c.1754G= (p.Gly585=) | |
| 12 | g.65238563G>T | CA385671005 | LEMD3 | c.1757G>T (p.Gly586Val) c.1754G>T (p.Gly585Val) | |
| 12 | g.65238564A= | CA2042444300 | LEMD3 | c.1758A= (p.Gly586=) c.1755A= (p.Gly585=) | |
| 12 | g.65238564A>C | CA480666094 | LEMD3 | c.1758A>C (p.Gly586=) c.1755A>C (p.Gly585=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.65238564A>G | CA6671031 | LEMD3 | c.1758A>G (p.Gly586=) c.1755A>G (p.Gly585=) | ClinVar dbSNP ExAC gnomAD v2 |
| 12 | g.65238564A>T | CA480666093 | LEMD3 | c.1758A>T (p.Gly586=) c.1755A>T (p.Gly585=) | |
| 12 | g.65238565A>C | CA385671006 | LEMD3 | c.1759A>C (p.Lys587Gln) c.1756A>C (p.Lys586Gln) | |
| 12 | g.65238565A>G | CA385671007 | LEMD3 | c.1759A>G (p.Lys587Glu) c.1756A>G (p.Lys586Glu) | |
| 12 | g.65238565A>T | CA385671008 | LEMD3 | c.1759A>T (p.Lys587Ter) c.1756A>T (p.Lys586Ter) | |
| 12 | g.65238566A>C | CA385671011 | LEMD3 | c.1760A>C (p.Lys587Thr) c.1757A>C (p.Lys586Thr) | |
| 12 | g.65238566A>G | CA385671009 | LEMD3 | c.1760A>G (p.Lys587Arg) c.1757A>G (p.Lys586Arg) | |
| 12 | g.65238566A>T | CA385671010 | LEMD3 | c.1760A>T (p.Lys587Ile) c.1757A>T (p.Lys586Ile) | |
| 12 | g.65238567A= | CA2042444307 | LEMD3 | c.1761A= (p.Lys587=) c.1758A= (p.Lys586=) | |
| 12 | g.65238567A>C | CA385671012 | LEMD3 | c.1761A>C (p.Lys587Asn) c.1758A>C (p.Lys586Asn) | dbSNP gnomAD v2 |
| 12 | g.65238567A>G | CA480666095 | LEMD3 | c.1761A>G (p.Lys587=) c.1758A>G (p.Lys586=) | |
| 12 | g.65238567A>T | CA385671013 | LEMD3 | c.1761A>T (p.Lys587Asn) c.1758A>T (p.Lys586Asn) | |
| 12 | g.65238568G>A | CA385671014 | LEMD3 | c.1762G>A (p.Asp588Asn) c.1759G>A (p.Asp587Asn) | |
| 12 | g.65238568G>C | CA6671032 | LEMD3 | c.1762G>C (p.Asp588His) c.1759G>C (p.Asp587His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.65238568G= | CA2042444312 | LEMD3 | c.1762G= (p.Asp588=) c.1759G= (p.Asp587=) | |
| 12 | g.65238568G>T | CA385671015 | LEMD3 | c.1762G>T (p.Asp588Tyr) c.1759G>T (p.Asp587Tyr) | |
| 12 | g.65238569A= | CA2042444315 | LEMD3 | c.1763A= (p.Asp588=) c.1760A= (p.Asp587=) | |
| 12 | g.65238569A>C | CA385671016 | LEMD3 | c.1763A>C (p.Asp588Ala) c.1760A>C (p.Asp587Ala) | |
| 12 | g.65238569A>G | CA238915059 | LEMD3 | c.1763A>G (p.Asp588Gly) c.1760A>G (p.Asp587Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.65238569A>T | CA385671017 | LEMD3 | c.1763A>T (p.Asp588Val) c.1760A>T (p.Asp587Val) | |
| 12 | g.65238570T>A | CA385671018 | LEMD3 | c.1764T>A (p.Asp588Glu) c.1761T>A (p.Asp587Glu) | COSMIC |
| 12 | g.65238570T>C | CA480666096 | LEMD3 | c.1764T>C (p.Asp588=) c.1761T>C (p.Asp587=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.65238570T>G | CA385671019 | LEMD3 | c.1764T>G (p.Asp588Glu) c.1761T>G (p.Asp587Glu) | |
| 12 | g.65238570T= | CA2042444321 | LEMD3 | c.1764T= (p.Asp588=) c.1761T= (p.Asp587=) | |
| 12 | g.65238571G>A | CA385671020 | LEMD3 | c.1765G>A (p.Val589Ile) c.1762G>A (p.Val588Ile) | gnomAD v4 |
| 12 | g.65238571G>C | CA385671021 | LEMD3 | c.1765G>C (p.Val589Leu) c.1762G>C (p.Val588Leu) | |
| 12 | g.65238571G>T | CA385671022 | LEMD3 | c.1765G>T (p.Val589Phe) c.1762G>T (p.Val588Phe) | |
| 12 | g.65238572T>A | CA385671023 | LEMD3 | c.1766T>A (p.Val589Asp) c.1763T>A (p.Val588Asp) | |
| 12 | g.65238572T>C | CA385671024 | LEMD3 | c.1766T>C (p.Val589Ala) c.1763T>C (p.Val588Ala) | dbSNP |
| 12 | g.65238572T>G | CA385671025 | LEMD3 | c.1766T>G (p.Val589Gly) c.1763T>G (p.Val588Gly) | |
| 12 | g.65238572T= | CA2042444329 | LEMD3 | c.1766T= (p.Val589=) c.1763T= (p.Val588=) | |
| 12 | g.65238573T>A | CA480666097 | LEMD3 | c.1767T>A (p.Val589=) c.1764T>A (p.Val588=) | |
| 12 | g.65238573T>C | CA480666098 | LEMD3 | c.1767T>C (p.Val589=) c.1764T>C (p.Val588=) | |
| 12 | g.65238573T>G | CA6671033 | LEMD3 | c.1767T>G (p.Val589=) c.1764T>G (p.Val588=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65238573T= | CA2042444334 | LEMD3 | c.1767T= (p.Val589=) c.1764T= (p.Val588=) | |
| 12 | g.65238574G>A | CA385671026 | LEMD3 | c.1768G>A (p.Gly590Arg) c.1765G>A (p.Gly589Arg) | |
| 12 | g.65238574G>C | CA385671027 | LEMD3 | c.1768G>C (p.Gly590Arg) c.1765G>C (p.Gly589Arg) | |
| 12 | g.65238574G>T | CA385671028 | LEMD3 | c.1768G>T (p.Gly590Ter) c.1765G>T (p.Gly589Ter) | gnomAD v4 |
| 12 | g.65238575G>A | CA385671029 | LEMD3 | c.1769G>A (p.Gly590Glu) c.1766G>A (p.Gly589Glu) | |
| 12 | g.65238575G>C | CA385671031 | LEMD3 | c.1769G>C (p.Gly590Ala) c.1766G>C (p.Gly589Ala) | |
| 12 | g.65238575G>T | CA385671030 | LEMD3 | c.1769G>T (p.Gly590Val) c.1766G>T (p.Gly589Val) | |
| 12 | g.65238576A>C | CA480666099 | LEMD3 | c.1770A>C (p.Gly590=) c.1767A>C (p.Gly589=) | gnomAD v4 |
| 12 | g.65238576A>G | CA480666100 | LEMD3 | c.1770A>G (p.Gly590=) c.1767A>G (p.Gly589=) | |
| 12 | g.65238576A>T | CA480666101 | LEMD3 | c.1770A>T (p.Gly590=) c.1767A>T (p.Gly589=) | |
| 12 | g.65238577A>C | CA385671032 | LEMD3 | c.1771A>C (p.Ile591Leu) c.1768A>C (p.Ile590Leu) | |
| 12 | g.65238577A>G | CA385671033 | LEMD3 | c.1771A>G (p.Ile591Val) c.1768A>G (p.Ile590Val) | COSMIC |
| 12 | g.65238577A>T | CA385671034 | LEMD3 | c.1771A>T (p.Ile591Leu) c.1768A>T (p.Ile590Leu) | |
| 12 | g.65238578T>A | CA385671035 | LEMD3 | c.1772T>A (p.Ile591Lys) c.1769T>A (p.Ile590Lys) | |
| 12 | g.65238578T>C | CA385671036 | LEMD3 | c.1772T>C (p.Ile591Thr) c.1769T>C (p.Ile590Thr) | |
| 12 | g.65238578T>G | CA385671037 | LEMD3 | c.1772T>G (p.Ile591Arg) c.1769T>G (p.Ile590Arg) | |
| 12 | g.65238579A>C | CA480666102 | LEMD3 | c.1773A>C (p.Ile591=) c.1770A>C (p.Ile590=) | |
| 12 | g.65238579A>G | CA385671038 | LEMD3 | c.1773A>G (p.Ile591Met) c.1770A>G (p.Ile590Met) | |
| 12 | g.65238579A>T | CA480666103 | LEMD3 | c.1773A>T (p.Ile591=) c.1770A>T (p.Ile590=) | |
| 12 | g.65238580A>C | CA480666104 | LEMD3 | c.1774A>C (p.Arg592=) c.1771A>C (p.Arg591=) | |
| 12 | g.65238580A>G | CA385671039 | LEMD3 | c.1774A>G (p.Arg592Gly) c.1771A>G (p.Arg591Gly) | |
| 12 | g.65238580A>T | CA385671040 | LEMD3 | c.1774A>T (p.Arg592Trp) c.1771A>T (p.Arg591Trp) | |
| 12 | g.65238581G>A | CA385671041 | LEMD3 | c.1775G>A (p.Arg592Lys) c.1772G>A (p.Arg591Lys) | gnomAD v4 |
| 12 | g.65238581G>C | CA385671042 | LEMD3 | c.1775G>C (p.Arg592Thr) c.1772G>C (p.Arg591Thr) | |
| 12 | g.65238581G>T | CA385671043 | LEMD3 | c.1775G>T (p.Arg592Met) c.1772G>T (p.Arg591Met) | |
| 12 | g.65238582G>A | CA385671046 | LEMD3 | c.1775+1G>A (n.1775+1G>A) c.1772+1G>A (n.1772+1G>A) | |
| 12 | g.65238582G>C | CA385671044 | LEMD3 | c.1775+1G>C (n.1775+1G>C) c.1772+1G>C (n.1772+1G>C) | |
| 12 | g.65238582G>T | CA385671045 | LEMD3 | c.1775+1G>T (n.1775+1G>T) c.1772+1G>T (n.1772+1G>T) | |
| 12 | g.65238583T>A | CA385671047 | LEMD3 | c.1775+2T>A (n.1775+2T>A) c.1772+2T>A (n.1772+2T>A) | |
| 12 | g.65238583T>C | CA385671048 | LEMD3 | c.1775+2T>C (n.1775+2T>C) c.1772+2T>C (n.1772+2T>C) | |
| 12 | g.65238583T>G | CA385671049 | LEMD3 | c.1775+2T>G (n.1775+2T>G) c.1772+2T>G (n.1772+2T>G) | |
| 12 | g.65238584A>G | CA2619669437 | LEMD3 | c.1775+3A>G (n.1775+3A>G) c.1772+3A>G (n.1772+3A>G) | gnomAD v4 |
| 12 | g.65238587G>A | CA2619669438 | LEMD3 | c.1775+6G>A (n.1775+6G>A) c.1772+6G>A (n.1772+6G>A) | gnomAD v4 |
| 12 | g.65238588G>C | CA2619669439 | LEMD3 | c.1775+7G>C (n.1775+7G>C) c.1772+7G>C (n.1772+7G>C) | gnomAD v4 |
| 12 | g.65238589A= | CA2042444338 | LEMD3 | c.1775+8A= (n.1775+8A=) c.1772+8A= (n.1772+8A=) | |
| 12 | g.65238589A>T | CA238915060 | LEMD3 | c.1775+8A>T (n.1775+8A>T) c.1772+8A>T (n.1772+8A>T) | dbSNP gnomAD v4 |
| 12 | g.65238590T>C | CA2619669440 | LEMD3 | c.1775+9T>C (n.1775+9T>C) c.1772+9T>C (n.1772+9T>C) | gnomAD v4 |
| 12 | g.65238591C= | CA2042444345 | LEMD3 | c.1775+10C= (n.1775+10C=) c.1772+10C= (n.1772+10C=) | |
| 12 | g.65238591C>G | CA2619669441 | LEMD3 | c.1775+10C>G (n.1775+10C>G) c.1772+10C>G (n.1772+10C>G) | gnomAD v4 |
| 12 | g.65238591_65238592insCTTTATAACACACTCTA | CA605709998 | LEMD3 | c.1775+10_1775+11insCTTTATAACACACTCTA (n.1775+10_1775+11insCTTTATAACACACTCTA) c.1772+10_1772+11insCTTTATAACACACTCTA (n.1772+10_1772+11insCTTTATAACACACTCTA) | dbSNP gnomAD v2 |
| 12 | g.65238592T>C | CA605709999 | LEMD3 | c.1775+11T>C (n.1775+11T>C) c.1772+11T>C (n.1772+11T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.65238592T= | CA2042444349 | LEMD3 | c.1775+11T= (n.1775+11T=) c.1772+11T= (n.1772+11T=) | |
| 12 | g.65238593G>A | CA605710000 | LEMD3 | c.1775+12G>A (n.1775+12G>A) c.1772+12G>A (n.1772+12G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65238593G= | CA2042444352 | LEMD3 | c.1775+12G= (n.1775+12G=) c.1772+12G= (n.1772+12G=) | |
| 12 | g.65238595T>A | CA605710001 | LEMD3 | c.1775+14T>A (n.1775+14T>A) c.1772+14T>A (n.1772+14T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.65238595T>C | CA2580086648 | LEMD3 | c.1775+14T>C (n.1775+14T>C) c.1772+14T>C (n.1772+14T>C) | ClinVar |
| 12 | g.65238595T= | CA2042444354 | LEMD3 | c.1775+14T= (n.1775+14T=) c.1772+14T= (n.1772+14T=) | |
| 12 | g.65238598C>A | CA2619669442 | LEMD3 | c.1775+17C>A (n.1775+17C>A) c.1772+17C>A (n.1772+17C>A) | gnomAD v4 |
| 12 | g.65238599C>T | CA2575215365 | LEMD3 | c.1775+18C>T (n.1775+18C>T) c.1772+18C>T (n.1772+18C>T) | ClinVar gnomAD v4 |
| 12 | g.65238600A= | CA2042444359 | LEMD3 | c.1775+19A= (n.1775+19A=) c.1772+19A= (n.1772+19A=) | |
| 12 | g.65238600A>C | CA238915061 | LEMD3 | c.1775+19A>C (n.1775+19A>C) c.1772+19A>C (n.1772+19A>C) | dbSNP gnomAD v4 |
| 12 | g.65238600A>G | CA2619669443 | LEMD3 | c.1775+19A>G (n.1775+19A>G) c.1772+19A>G (n.1772+19A>G) | gnomAD v4 |
| 12 | g.65238602T>C | CA948623251 | LEMD3 | c.1775+21T>C (n.1775+21T>C) c.1772+21T>C (n.1772+21T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.65238602T= | CA2042444365 | LEMD3 | c.1775+21T= (n.1775+21T=) c.1772+21T= (n.1772+21T=) | |
| 12 | g.65238603T>C | CA2619669444 | LEMD3 | c.1775+22T>C (n.1775+22T>C) c.1772+22T>C (n.1772+22T>C) | gnomAD v4 |
| 12 | g.65238605G>A | CA2575215366 | LEMD3 | c.1775+24G>A (n.1775+24G>A) c.1772+24G>A (n.1772+24G>A) | |
| 12 | g.65238605G>T | CA2619669445 | LEMD3 | c.1775+24G>T (n.1775+24G>T) c.1772+24G>T (n.1772+24G>T) | gnomAD v4 |
| 12 | g.65238606A= | CA2042444370 | LEMD3 | c.1775+25A= (n.1775+25A=) c.1772+25A= (n.1772+25A=) | |
| 12 | g.65238606A>C | CA238915062 | LEMD3 | c.1775+25A>C (n.1775+25A>C) c.1772+25A>C (n.1772+25A>C) | dbSNP |
| 12 | g.65238607C>A | CA6671034 | LEMD3 | c.1775+26C>A (n.1775+26C>A) c.1772+26C>A (n.1772+26C>A) | dbSNP ExAC gnomAD v2 |
| 12 | g.65238607C= | CA2042444374 | LEMD3 | c.1775+26C= (n.1775+26C=) c.1772+26C= (n.1772+26C=) | |
| 12 | g.65238608C>A | CA2619669446 | LEMD3 | c.1775+27C>A (n.1775+27C>A) c.1772+27C>A (n.1772+27C>A) | gnomAD v4 |
| 12 | g.65238609A= | CA2042444382 | LEMD3 | c.1775+28A= (n.1775+28A=) c.1772+28A= (n.1772+28A=) | |
| 12 | g.65238609A>G | CA6671035 | LEMD3 | c.1775+28A>G (n.1775+28A>G) c.1772+28A>G (n.1772+28A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.65238613T>G | CA605710002 | LEMD3 | c.1775+32T>G (n.1775+32T>G) c.1772+32T>G (n.1772+32T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65238613T= | CA2042444386 | LEMD3 | c.1775+32T= (n.1775+32T=) c.1772+32T= (n.1772+32T=) | |
| 12 | g.65238614G>C | CA6671036 | LEMD3 | c.1775+33G>C (n.1775+33G>C) c.1772+33G>C (n.1772+33G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65238614G= | CA2042444389 | LEMD3 | c.1775+33G= (n.1775+33G=) c.1772+33G= (n.1772+33G=) | |
| 12 | g.65238616A>G | CA2619669447 | LEMD3 | c.1775+35A>G (n.1775+35A>G) c.1772+35A>G (n.1772+35A>G) | gnomAD v4 |
| 12 | g.65238617C>T | CA2619669448 | LEMD3 | c.1775+36C>T (n.1775+36C>T) c.1772+36C>T (n.1772+36C>T) | gnomAD v4 |
| 12 | g.65238618T>C | CA2619669449 | LEMD3 | c.1775+37T>C (n.1775+37T>C) c.1772+37T>C (n.1772+37T>C) | gnomAD v4 |
| 12 | g.65238618T= | CA2042444390 | LEMD3 | c.1775+37T= (n.1775+37T=) c.1772+37T= (n.1772+37T=) | |
| 12 | g.65238619G>T | CA2575215367 | LEMD3 | c.1775+38G>T (n.1775+38G>T) c.1772+38G>T (n.1772+38G>T) | gnomAD v4 |
| 12 | g.65238621dup | CA2042444391 | LEMD3 | c.1775+40dup (n.1775+40dup) c.1772+40dup (n.1772+40dup) | dbSNP |
| 12 | g.65238626A= | CA2042444392 | LEMD3 | c.1776-43A= (n.1776-43A=) c.1773-43A= (n.1773-43A=) | |
| 12 | g.65238626A>G | CA238915063 | LEMD3 | c.1776-43A>G (n.1776-43A>G) c.1773-43A>G (n.1773-43A>G) | dbSNP |
| 12 | g.65238627_65238628delinsTG | CA2042444395 | LEMD3 | c.1776-42_1776-41delinsTG (n.1776-42_1776-41delinsTG) c.1773-42_1773-41delinsTG (n.1773-42_1773-41delinsTG) | |
| 12 | g.65238628G>A | CA948623255 | LEMD3 | c.1776-41G>A (n.1776-41G>A) c.1773-41G>A (n.1773-41G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.65238628G= | CA2042444399 | LEMD3 | c.1776-41G= (n.1776-41G=) c.1773-41G= (n.1773-41G=) | |
| 12 | g.65238629del | CA691028041 | LEMD3 | c.1776-40del (n.1776-40del) c.1773-40del (n.1773-40del) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.65238630T>C | CA2619669450 | LEMD3 | c.1776-39T>C (n.1776-39T>C) c.1773-39T>C (n.1773-39T>C) | gnomAD v4 |
| 12 | g.65238630T>G | CA6671037 | LEMD3 | c.1776-39T>G (n.1776-39T>G) c.1773-39T>G (n.1773-39T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65238630T= | CA2042444404 | LEMD3 | c.1776-39T= (n.1776-39T=) c.1773-39T= (n.1773-39T=) | |
| 12 | g.65238633T>C | CA2619669451 | LEMD3 | c.1776-36T>C (n.1776-36T>C) c.1773-36T>C (n.1773-36T>C) | gnomAD v4 |
| 12 | g.65238634T>C | CA605710003 | LEMD3 | c.1776-35T>C (n.1776-35T>C) c.1773-35T>C (n.1773-35T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.65238634T= | CA2042444409 | LEMD3 | c.1776-35T= (n.1776-35T=) c.1773-35T= (n.1773-35T=) |