Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.65238696A>C | CA385671118 | LEMD3 | c.1803A>C (p.Glu601Asp) c.1800A>C (p.Glu600Asp) | |
12 | g.65238696A>G | CA480666124 | LEMD3 | c.1803A>G (p.Glu601=) c.1800A>G (p.Glu600=) | |
12 | g.65238696A>T | CA385671119 | LEMD3 | c.1803A>T (p.Glu601Asp) c.1800A>T (p.Glu600Asp) | gnomAD v4 |
12 | g.65238697T>A | CA385671120 | LEMD3 | c.1804T>A (p.Leu602Met) c.1801T>A (p.Leu601Met) | |
12 | g.65238697T>C | CA6671045 | LEMD3 | c.1804T>C (p.Leu602=) c.1801T>C (p.Leu601=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.65238697T>G | CA385671121 | LEMD3 | c.1804T>G (p.Leu602Val) c.1801T>G (p.Leu601Val) | |
12 | g.65238697T= | CA2042444494 | LEMD3 | c.1804T= (p.Leu602=) c.1801T= (p.Leu601=) | |
12 | g.65238698T>A | CA385671122 | LEMD3 | c.1805T>A (p.Leu602Ter) c.1802T>A (p.Leu601Ter) | |
12 | g.65238698T>C | CA385671123 | LEMD3 | c.1805T>C (p.Leu602Ser) c.1802T>C (p.Leu601Ser) | |
12 | g.65238698T>G | CA385671124 | LEMD3 | c.1805T>G (p.Leu602Trp) c.1802T>G (p.Leu601Trp) | |
12 | g.65238699G>A | CA480666126 | LEMD3 | c.1806G>A (p.Leu602=) c.1803G>A (p.Leu601=) | gnomAD v4 |
12 | g.65238699G>C | CA6671046 | LEMD3 | c.1806G>C (p.Leu602Phe) c.1803G>C (p.Leu601Phe) | dbSNP ExAC gnomAD v2 |
12 | g.65238699G= | CA2042444500 | LEMD3 | c.1806G= (p.Leu602=) c.1803G= (p.Leu601=) | |
12 | g.65238699G>T | CA385671125 | LEMD3 | c.1806G>T (p.Leu602Phe) c.1803G>T (p.Leu601Phe) | gnomAD v4 |
12 | g.65238700A>C | CA385671128 | LEMD3 | c.1807A>C (p.Thr603Pro) c.1804A>C (p.Thr602Pro) | |
12 | g.65238700A>G | CA385671127 | LEMD3 | c.1807A>G (p.Thr603Ala) c.1804A>G (p.Thr602Ala) | |
12 | g.65238700A>T | CA385671126 | LEMD3 | c.1807A>T (p.Thr603Ser) c.1804A>T (p.Thr602Ser) | |
12 | g.65238701C>A | CA385671129 | LEMD3 | c.1808C>A (p.Thr603Lys) c.1805C>A (p.Thr602Lys) | |
12 | g.65238701C>G | CA385671130 | LEMD3 | c.1808C>G (p.Thr603Arg) c.1805C>G (p.Thr602Arg) | |
12 | g.65238701C>T | CA385671131 | LEMD3 | c.1808C>T (p.Thr603Ile) c.1805C>T (p.Thr602Ile) | |
12 | g.65238701_65238705del | CA2573053752 | LEMD3 | c.1808_1812del (p.Thr603AsnfsTer3) c.1805_1809del (p.Thr602AsnfsTer3) | ClinVar dbSNP |
12 | g.65238702A= | CA2042444505 | LEMD3 | c.1809A= (p.Thr603=) c.1806A= (p.Thr602=) | |
12 | g.65238702A>C | CA480666127 | LEMD3 | c.1809A>C (p.Thr603=) c.1806A>C (p.Thr602=) | dbSNP gnomAD v4 |
12 | g.65238702A>G | CA480666128 | LEMD3 | c.1809A>G (p.Thr603=) c.1806A>G (p.Thr602=) | |
12 | g.65238702A>T | CA480666129 | LEMD3 | c.1809A>T (p.Thr603=) c.1806A>T (p.Thr602=) | |
12 | g.65238703A= | CA2042444507 | LEMD3 | c.1810A= (p.Asn604=) c.1807A= (p.Asn603=) | |
12 | g.65238703A>C | CA385671132 | LEMD3 | c.1810A>C (p.Asn604His) c.1807A>C (p.Asn603His) | |
12 | g.65238703A>G | CA6671047 | LEMD3 | c.1810A>G (p.Asn604Asp) c.1807A>G (p.Asn603Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65238703A>T | CA385671133 | LEMD3 | c.1810A>T (p.Asn604Tyr) c.1807A>T (p.Asn603Tyr) | |
12 | g.65238704A>C | CA385671134 | LEMD3 | c.1811A>C (p.Asn604Thr) c.1808A>C (p.Asn603Thr) | gnomAD v4 |
12 | g.65238704A>G | CA385671135 | LEMD3 | c.1811A>G (p.Asn604Ser) c.1808A>G (p.Asn603Ser) | |
12 | g.65238704A>T | CA385671136 | LEMD3 | c.1811A>T (p.Asn604Ile) c.1808A>T (p.Asn603Ile) | |
12 | g.65238705T>A | CA385671137 | LEMD3 | c.1812T>A (p.Asn604Lys) c.1809T>A (p.Asn603Lys) | |
12 | g.65238705T>C | CA480666130 | LEMD3 | c.1812T>C (p.Asn604=) c.1809T>C (p.Asn603=) | |
12 | g.65238705T>G | CA385671138 | LEMD3 | c.1812T>G (p.Asn604Lys) c.1809T>G (p.Asn603Lys) | |
12 | g.65238706A= | CA2042444514 | LEMD3 | c.1813A= (p.Ile605=) c.1810A= (p.Ile604=) | |
12 | g.65238706A>C | CA385671139 | LEMD3 | c.1813A>C (p.Ile605Leu) c.1810A>C (p.Ile604Leu) | |
12 | g.65238706A>G | CA10643202 | LEMD3 | c.1813A>G (p.Ile605Val) c.1810A>G (p.Ile604Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.65238706A>T | CA385671140 | LEMD3 | c.1813A>T (p.Ile605Leu) c.1810A>T (p.Ile604Leu) | |
12 | g.65238707T>A | CA385671142 | LEMD3 | c.1814T>A (p.Ile605Lys) c.1811T>A (p.Ile604Lys) | |
12 | g.65238707T>C | CA6671048 | LEMD3 | c.1814T>C (p.Ile605Thr) c.1811T>C (p.Ile604Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65238707T>G | CA385671141 | LEMD3 | c.1814T>G (p.Ile605Arg) c.1811T>G (p.Ile604Arg) | COSMIC |
12 | g.65238707T= | CA2042444519 | LEMD3 | c.1814T= (p.Ile605=) c.1811T= (p.Ile604=) | |
12 | g.65238708A>C | CA480666132 | LEMD3 | c.1815A>C (p.Ile605=) c.1812A>C (p.Ile604=) | |
12 | g.65238708A>G | CA385671143 | LEMD3 | c.1815A>G (p.Ile605Met) c.1812A>G (p.Ile604Met) | |
12 | g.65238708A>T | CA480666131 | LEMD3 | c.1815A>T (p.Ile605=) c.1812A>T (p.Ile604=) | |
12 | g.65238709A>C | CA385671144 | LEMD3 | c.1816A>C (p.Thr606Pro) c.1813A>C (p.Thr605Pro) | |
12 | g.65238709A>G | CA385671145 | LEMD3 | c.1816A>G (p.Thr606Ala) c.1813A>G (p.Thr605Ala) | |
12 | g.65238709A>T | CA385671146 | LEMD3 | c.1816A>T (p.Thr606Ser) c.1813A>T (p.Thr605Ser) | |
12 | g.65238710C>A | CA385671147 | LEMD3 | c.1817C>A (p.Thr606Asn) c.1814C>A (p.Thr605Asn) | |
12 | g.65238710C>G | CA385671148 | LEMD3 | c.1817C>G (p.Thr606Ser) c.1814C>G (p.Thr605Ser) | |
12 | g.65238710C>T | CA385671149 | LEMD3 | c.1817C>T (p.Thr606Ile) c.1814C>T (p.Thr605Ile) | gnomAD v4 |
12 | g.65238711T>A | CA480666133 | LEMD3 | c.1818T>A (p.Thr606=) c.1815T>A (p.Thr605=) | |
12 | g.65238711T>C | CA6671049 | LEMD3 | c.1818T>C (p.Thr606=) c.1815T>C (p.Thr605=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65238711T>G | CA480666134 | LEMD3 | c.1818T>G (p.Thr606=) c.1815T>G (p.Thr605=) | |
12 | g.65238711T= | CA2042444522 | LEMD3 | c.1818T= (p.Thr606=) c.1815T= (p.Thr605=) | |
12 | g.65238712G>A | CA385671150 | LEMD3 | c.1819G>A (p.Asp607Asn) c.1816G>A (p.Asp606Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65238712G>C | CA238915064 | LEMD3 | c.1819G>C (p.Asp607His) c.1816G>C (p.Asp606His) | dbSNP gnomAD v4 |
12 | g.65238712G= | CA2042444525 | LEMD3 | c.1819G= (p.Asp607=) c.1816G= (p.Asp606=) | |
12 | g.65238712G>T | CA385671151 | LEMD3 | c.1819G>T (p.Asp607Tyr) c.1816G>T (p.Asp606Tyr) | |
12 | g.65238713A>C | CA385671152 | LEMD3 | c.1820A>C (p.Asp607Ala) c.1817A>C (p.Asp606Ala) | |
12 | g.65238713A>G | CA385671153 | LEMD3 | c.1820A>G (p.Asp607Gly) c.1817A>G (p.Asp606Gly) | |
12 | g.65238713A>T | CA385671154 | LEMD3 | c.1820A>T (p.Asp607Val) c.1817A>T (p.Asp606Val) | |
12 | g.65238714T>A | CA385671155 | LEMD3 | c.1821T>A (p.Asp607Glu) c.1818T>A (p.Asp606Glu) | |
12 | g.65238714T>C | CA480666135 | LEMD3 | c.1821T>C (p.Asp607=) c.1818T>C (p.Asp606=) | gnomAD v4 |
12 | g.65238714T>G | CA385671156 | LEMD3 | c.1821T>G (p.Asp607Glu) c.1818T>G (p.Asp606Glu) | ClinVar dbSNP gnomAD v4 |
12 | g.65238714T= | CA2042444530 | LEMD3 | c.1821T= (p.Asp607=) c.1818T= (p.Asp606=) | |
12 | g.65238715G>A | CA385671157 | LEMD3 | c.1822G>A (p.Val608Met) c.1819G>A (p.Val607Met) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65238715G>C | CA385671158 | LEMD3 | c.1822G>C (p.Val608Leu) c.1819G>C (p.Val607Leu) | |
12 | g.65238715G= | CA2042444532 | LEMD3 | c.1822G= (p.Val608=) c.1819G= (p.Val607=) | |
12 | g.65238715G>T | CA385671159 | LEMD3 | c.1822G>T (p.Val608Leu) c.1819G>T (p.Val607Leu) | |
12 | g.65238716T>A | CA385671160 | LEMD3 | c.1823T>A (p.Val608Glu) c.1820T>A (p.Val607Glu) | |
12 | g.65238716T>C | CA385671161 | LEMD3 | c.1823T>C (p.Val608Ala) c.1820T>C (p.Val607Ala) | |
12 | g.65238716T>G | CA385671162 | LEMD3 | c.1823T>G (p.Val608Gly) c.1820T>G (p.Val607Gly) | |
12 | g.65238717G>A | CA6671050 | LEMD3 | c.1824G>A (p.Val608=) c.1821G>A (p.Val607=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65238717G>C | CA480666137 | LEMD3 | c.1824G>C (p.Val608=) c.1821G>C (p.Val607=) | |
12 | g.65238717G= | CA2042444538 | LEMD3 | c.1824G= (p.Val608=) c.1821G= (p.Val607=) | |
12 | g.65238717G>T | CA6671051 | LEMD3 | c.1824G>T (p.Val608=) c.1821G>T (p.Val607=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65238718C>A | CA385671163 | LEMD3 | c.1825C>A (p.Gln609Lys) c.1822C>A (p.Gln608Lys) | |
12 | g.65238718C>G | CA385671164 | LEMD3 | c.1825C>G (p.Gln609Glu) c.1822C>G (p.Gln608Glu) | |
12 | g.65238718C>T | CA385671165 | LEMD3 | c.1825C>T (p.Gln609Ter) c.1822C>T (p.Gln608Ter) | |
12 | g.65238719A= | CA2042444554 | LEMD3 | c.1826A= (p.Gln609=) c.1823A= (p.Gln608=) | |
12 | g.65238719A>C | CA385671166 | LEMD3 | c.1826A>C (p.Gln609Pro) c.1823A>C (p.Gln608Pro) | dbSNP |
12 | g.65238719A>G | CA6671052 | LEMD3 | c.1826A>G (p.Gln609Arg) c.1823A>G (p.Gln608Arg) | dbSNP ExAC gnomAD v2 |
12 | g.65238719A>T | CA385671167 | LEMD3 | c.1826A>T (p.Gln609Leu) c.1823A>T (p.Gln608Leu) | |
12 | g.65238720G>A | CA6671053 | LEMD3 | c.1827G>A (p.Gln609=) c.1824G>A (p.Gln608=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65238720G>C | CA385671169 | LEMD3 | c.1827G>C (p.Gln609His) c.1824G>C (p.Gln608His) | gnomAD v4 |
12 | g.65238720G= | CA2042444561 | LEMD3 | c.1827G= (p.Gln609=) c.1824G= (p.Gln608=) | |
12 | g.65238720G>T | CA385671168 | LEMD3 | c.1827G>T (p.Gln609His) c.1824G>T (p.Gln608His) | |
12 | g.65238721T>A | CA385671170 | LEMD3 | c.1828T>A (p.Phe610Ile) c.1825T>A (p.Phe609Ile) | |
12 | g.65238721T>C | CA385671171 | LEMD3 | c.1828T>C (p.Phe610Leu) c.1825T>C (p.Phe609Leu) | |
12 | g.65238721T>G | CA385671172 | LEMD3 | c.1828T>G (p.Phe610Val) c.1825T>G (p.Phe609Val) | |
12 | g.65238722T>A | CA385671173 | LEMD3 | c.1829T>A (p.Phe610Tyr) c.1826T>A (p.Phe609Tyr) | |
12 | g.65238722T>C | CA385671174 | LEMD3 | c.1829T>C (p.Phe610Ser) c.1826T>C (p.Phe609Ser) | |
12 | g.65238722T>G | CA385671175 | LEMD3 | c.1829T>G (p.Phe610Cys) c.1826T>G (p.Phe609Cys) | |
12 | g.65238723T>A | CA385671176 | LEMD3 | c.1830T>A (p.Phe610Leu) c.1827T>A (p.Phe609Leu) | |
12 | g.65238723T>C | CA480666138 | LEMD3 | c.1830T>C (p.Phe610=) c.1827T>C (p.Phe609=) | |
12 | g.65238723T>G | CA385671177 | LEMD3 | c.1830T>G (p.Phe610Leu) c.1827T>G (p.Phe609Leu) | |
12 | g.65238724T>A | CA385671178 | LEMD3 | c.1831T>A (p.Leu611Ile) c.1828T>A (p.Leu610Ile) | |
12 | g.65238724T>C | CA480666139 | LEMD3 | c.1831T>C (p.Leu611=) c.1828T>C (p.Leu610=) | |
12 | g.65238724T>G | CA385671179 | LEMD3 | c.1831T>G (p.Leu611Val) c.1828T>G (p.Leu610Val) | dbSNP |
12 | g.65238724T= | CA2042444564 | LEMD3 | c.1831T= (p.Leu611=) c.1828T= (p.Leu610=) | |
12 | g.65238725T>A | CA385671180 | LEMD3 | c.1832T>A (p.Leu611Ter) c.1829T>A (p.Leu610Ter) | |
12 | g.65238725T>C | CA385671181 | LEMD3 | c.1832T>C (p.Leu611Ser) c.1829T>C (p.Leu610Ser) | |
12 | g.65238725T>G | CA385671182 | LEMD3 | c.1832T>G (p.Leu611Ter) c.1829T>G (p.Leu610Ter) | |
12 | g.65238726A>C | CA385671183 | LEMD3 | c.1833A>C (p.Leu611Phe) c.1830A>C (p.Leu610Phe) | |
12 | g.65238726A>G | CA480666140 | LEMD3 | c.1833A>G (p.Leu611=) c.1830A>G (p.Leu610=) | |
12 | g.65238726A>T | CA385671184 | LEMD3 | c.1833A>T (p.Leu611Phe) c.1830A>T (p.Leu610Phe) | |
12 | g.65238727C>A | CA6671054 | LEMD3 | c.1834C>A (p.Gln612Lys) c.1831C>A (p.Gln611Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65238727C= | CA2042444570 | LEMD3 | c.1834C= (p.Gln612=) c.1831C= (p.Gln611=) | |
12 | g.65238727C>G | CA385671185 | LEMD3 | c.1834C>G (p.Gln612Glu) c.1831C>G (p.Gln611Glu) | |
12 | g.65238727C>T | CA385671186 | LEMD3 | c.1834C>T (p.Gln612Ter) c.1831C>T (p.Gln611Ter) | |
12 | g.65238728A>C | CA385671187 | LEMD3 | c.1835A>C (p.Gln612Pro) c.1832A>C (p.Gln611Pro) | |
12 | g.65238728A>G | CA385671188 | LEMD3 | c.1835A>G (p.Gln612Arg) c.1832A>G (p.Gln611Arg) | gnomAD v4 |
12 | g.65238728A>T | CA385671189 | LEMD3 | c.1835A>T (p.Gln612Leu) c.1832A>T (p.Gln611Leu) | |
12 | g.65238729G>A | CA480666141 | LEMD3 | c.1836G>A (p.Gln612=) c.1833G>A (p.Gln611=) | |
12 | g.65238729G>C | CA385671190 | LEMD3 | c.1836G>C (p.Gln612His) c.1833G>C (p.Gln611His) | |
12 | g.65238729G>T | CA385671191 | LEMD3 | c.1836G>T (p.Gln612His) c.1833G>T (p.Gln611His) | |
12 | g.65238730T>A | CA385671192 | LEMD3 | c.1837T>A (p.Ser613Thr) c.1834T>A (p.Ser612Thr) | |
12 | g.65238730T>C | CA385671193 | LEMD3 | c.1837T>C (p.Ser613Pro) c.1834T>C (p.Ser612Pro) | |
12 | g.65238730T>G | CA385671194 | LEMD3 | c.1837T>G (p.Ser613Ala) c.1834T>G (p.Ser612Ala) | |
12 | g.65238731C>A | CA238915065 | LEMD3 | c.1838C>A (p.Ser613Tyr) c.1835C>A (p.Ser612Tyr) | dbSNP |
12 | g.65238731C= | CA2042444577 | LEMD3 | c.1838C= (p.Ser613=) c.1835C= (p.Ser612=) | |
12 | g.65238731C>G | CA385671196 | LEMD3 | c.1838C>G (p.Ser613Cys) c.1835C>G (p.Ser612Cys) | |
12 | g.65238731C>T | CA385671195 | LEMD3 | c.1838C>T (p.Ser613Phe) c.1835C>T (p.Ser612Phe) | |
12 | g.65238732C>A | CA480666142 | LEMD3 | c.1839C>A (p.Ser613=) c.1836C>A (p.Ser612=) | |
12 | g.65238732C>G | CA480666144 | LEMD3 | c.1839C>G (p.Ser613=) c.1836C>G (p.Ser612=) | |
12 | g.65238732C>T | CA480666143 | LEMD3 | c.1839C>T (p.Ser613=) c.1836C>T (p.Ser612=) | |
12 | g.65238733A>C | CA385671199 | LEMD3 | c.1840A>C (p.Thr614Pro) c.1837A>C (p.Thr613Pro) | |
12 | g.65238733A>G | CA385671197 | LEMD3 | c.1840A>G (p.Thr614Ala) c.1837A>G (p.Thr613Ala) | |
12 | g.65238733A>T | CA385671198 | LEMD3 | c.1840A>T (p.Thr614Ser) c.1837A>T (p.Thr613Ser) | |
12 | g.65238734C>A | CA385671200 | LEMD3 | c.1841C>A (p.Thr614Lys) c.1838C>A (p.Thr613Lys) | |
12 | g.65238734C>G | CA385671201 | LEMD3 | c.1841C>G (p.Thr614Arg) c.1838C>G (p.Thr613Arg) | |
12 | g.65238734C>T | CA385671202 | LEMD3 | c.1841C>T (p.Thr614Ile) c.1838C>T (p.Thr613Ile) | |
12 | g.65238735A>C | CA480666145 | LEMD3 | c.1842A>C (p.Thr614=) c.1839A>C (p.Thr613=) | |
12 | g.65238735A>G | CA480666146 | LEMD3 | c.1842A>G (p.Thr614=) c.1839A>G (p.Thr613=) | |
12 | g.65238735A>T | CA480666147 | LEMD3 | c.1842A>T (p.Thr614=) c.1839A>T (p.Thr613=) | |
12 | g.65238736A>C | CA480666148 | LEMD3 | c.1843A>C (p.Arg615=) c.1840A>C (p.Arg614=) | |
12 | g.65238736A>G | CA385671203 | LEMD3 | c.1843A>G (p.Arg615Gly) c.1840A>G (p.Arg614Gly) | |
12 | g.65238736A>T | CA385671204 | LEMD3 | c.1843A>T (p.Arg615Ter) c.1840A>T (p.Arg614Ter) | |
12 | g.65238737G>A | CA385671205 | LEMD3 | c.1844G>A (p.Arg615Lys) c.1841G>A (p.Arg614Lys) | |
12 | g.65238737G>C | CA385671206 | LEMD3 | c.1844G>C (p.Arg615Thr) c.1841G>C (p.Arg614Thr) | |
12 | g.65238737G>T | CA385671207 | LEMD3 | c.1844G>T (p.Arg615Ile) c.1841G>T (p.Arg614Ile) | |
12 | g.65238738A>C | CA385671208 | LEMD3 | c.1845A>C (p.Arg615Ser) c.1842A>C (p.Arg614Ser) | |
12 | g.65238738A>G | CA480666149 | LEMD3 | c.1845A>G (p.Arg615=) c.1842A>G (p.Arg614=) | |
12 | g.65238738A>T | CA385671209 | LEMD3 | c.1845A>T (p.Arg615Ser) c.1842A>T (p.Arg614Ser) | |
12 | g.65238739C>A | CA385671212 | LEMD3 | c.1846C>A (p.Pro616Thr) c.1843C>A (p.Pro615Thr) | |
12 | g.65238739C>G | CA385671211 | LEMD3 | c.1846C>G (p.Pro616Ala) c.1843C>G (p.Pro615Ala) | |
12 | g.65238739C>T | CA385671210 | LEMD3 | c.1846C>T (p.Pro616Ser) c.1843C>T (p.Pro615Ser) | |
12 | g.65238740C>A | CA385671213 | LEMD3 | c.1847C>A (p.Pro616Gln) c.1844C>A (p.Pro615Gln) | |
12 | g.65238740C= | CA2042444585 | LEMD3 | c.1847C= (p.Pro616=) c.1844C= (p.Pro615=) | |
12 | g.65238740C>G | CA385671214 | LEMD3 | c.1847C>G (p.Pro616Arg) c.1844C>G (p.Pro615Arg) | |
12 | g.65238740C>T | CA385671215 | LEMD3 | c.1847C>T (p.Pro616Leu) c.1844C>T (p.Pro615Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.65238741A= | CA2042444588 | LEMD3 | c.1848A= (p.Pro616=) c.1845A= (p.Pro615=) | |
12 | g.65238741A>C | CA480666151 | LEMD3 | c.1848A>C (p.Pro616=) c.1845A>C (p.Pro615=) | |
12 | g.65238741A>G | CA6671055 | LEMD3 | c.1848A>G (p.Pro616=) c.1845A>G (p.Pro615=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65238741A>T | CA480666150 | LEMD3 | c.1848A>T (p.Pro616=) c.1845A>T (p.Pro615=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65238742C>A | CA385671216 | LEMD3 | c.1849C>A (p.Leu617Met) c.1846C>A (p.Leu616Met) | |
12 | g.65238742C= | CA2042444592 | LEMD3 | c.1849C= (p.Leu617=) c.1846C= (p.Leu616=) | |
12 | g.65238742C>G | CA385671217 | LEMD3 | c.1849C>G (p.Leu617Val) c.1846C>G (p.Leu616Val) | COSMIC |
12 | g.65238742C>T | CA480666152 | LEMD3 | c.1849C>T (p.Leu617=) c.1846C>T (p.Leu616=) | dbSNP |
12 | g.65238743T>A | CA385671218 | LEMD3 | c.1850T>A (p.Leu617Gln) c.1847T>A (p.Leu616Gln) | |
12 | g.65238743T>C | CA385671219 | LEMD3 | c.1850T>C (p.Leu617Pro) c.1847T>C (p.Leu616Pro) | gnomAD v4 |
12 | g.65238743T>G | CA385671220 | LEMD3 | c.1850T>G (p.Leu617Arg) c.1847T>G (p.Leu616Arg) | |
12 | g.65238744G>A | CA480666153 | LEMD3 | c.1851G>A (p.Leu617=) c.1848G>A (p.Leu616=) | gnomAD v4 |
12 | g.65238744G>C | CA6671056 | LEMD3 | c.1851G>C (p.Leu617=) c.1848G>C (p.Leu616=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65238744G= | CA2042444595 | LEMD3 | c.1851G= (p.Leu617=) c.1848G= (p.Leu616=) | |
12 | g.65238744G>T | CA480666154 | LEMD3 | c.1851G>T (p.Leu617=) c.1848G>T (p.Leu616=) | |
12 | g.65238745A>C | CA385671221 | LEMD3 | c.1852A>C (p.Met618Leu) c.1849A>C (p.Met617Leu) | |
12 | g.65238745A>G | CA385671222 | LEMD3 | c.1852A>G (p.Met618Val) c.1849A>G (p.Met617Val) | |
12 | g.65238745A>T | CA385671223 | LEMD3 | c.1852A>T (p.Met618Leu) c.1849A>T (p.Met617Leu) | gnomAD v4 |
12 | g.65238745_65238746del | CA2796331408 | LEMD3 | c.1852_1853del (p.Met618ValfsTer?) c.1849_1850del (p.Met617ValfsTer?) | |
12 | g.65238746T>A | CA385671225 | LEMD3 | c.1853T>A (p.Met618Lys) c.1850T>A (p.Met617Lys) | |
12 | g.65238746T>C | CA385671226 | LEMD3 | c.1853T>C (p.Met618Thr) c.1850T>C (p.Met617Thr) | ClinVar |
12 | g.65238746T>G | CA385671224 | LEMD3 | c.1853T>G (p.Met618Arg) c.1850T>G (p.Met617Arg) | |
12 | g.65238747G>A | CA385671227 | LEMD3 | c.1854G>A (p.Met618Ile) c.1851G>A (p.Met617Ile) | |
12 | g.65238747G>C | CA385671229 | LEMD3 | c.1854G>C (p.Met618Ile) c.1851G>C (p.Met617Ile) | |
12 | g.65238747G>T | CA385671228 | LEMD3 | c.1854G>T (p.Met618Ile) c.1851G>T (p.Met617Ile) | |
12 | g.65238748T>A | CA385671230 | LEMD3 | c.1855T>A (p.Ser619Thr) c.1852T>A (p.Ser618Thr) | |
12 | g.65238748T>C | CA385671231 | LEMD3 | c.1855T>C (p.Ser619Pro) c.1852T>C (p.Ser618Pro) | |
12 | g.65238748T>G | CA385671232 | LEMD3 | c.1855T>G (p.Ser619Ala) c.1852T>G (p.Ser618Ala) | |
12 | g.65238749C>A | CA385671233 | LEMD3 | c.1856C>A (p.Ser619Tyr) c.1853C>A (p.Ser618Tyr) | |
12 | g.65238749C>G | CA385671234 | LEMD3 | c.1856C>G (p.Ser619Cys) c.1853C>G (p.Ser618Cys) | gnomAD v4 |
12 | g.65238749C>T | CA385671235 | LEMD3 | c.1856C>T (p.Ser619Phe) c.1853C>T (p.Ser618Phe) | |
12 | g.65238750T>A | CA480666155 | LEMD3 | c.1857T>A (p.Ser619=) c.1854T>A (p.Ser618=) | |
12 | g.65238750T>C | CA480666156 | LEMD3 | c.1857T>C (p.Ser619=) c.1854T>C (p.Ser618=) | |
12 | g.65238750T>G | CA480666157 | LEMD3 | c.1857T>G (p.Ser619=) c.1854T>G (p.Ser618=) | |
12 | g.65238754dup | CA2619669454 | LEMD3 | c.1861dup (p.Trp621LeufsTer?) c.1858dup (p.Trp620LeufsTer?) | gnomAD v4 |
12 | g.65238751T>A | CA385671236 | LEMD3 | c.1858T>A (p.Phe620Ile) c.1855T>A (p.Phe619Ile) | |
12 | g.65238751T>C | CA385671237 | LEMD3 | c.1858T>C (p.Phe620Leu) c.1855T>C (p.Phe619Leu) | |
12 | g.65238751T>G | CA385671238 | LEMD3 | c.1858T>G (p.Phe620Val) c.1855T>G (p.Phe619Val) | |
12 | g.65238752T>A | CA385671239 | LEMD3 | c.1859T>A (p.Phe620Tyr) c.1856T>A (p.Phe619Tyr) | |
12 | g.65238752T>C | CA385671240 | LEMD3 | c.1859T>C (p.Phe620Ser) c.1856T>C (p.Phe619Ser) | dbSNP |
12 | g.65238752T>G | CA385671241 | LEMD3 | c.1859T>G (p.Phe620Cys) c.1856T>G (p.Phe619Cys) | |
12 | g.65238752T= | CA2042444602 | LEMD3 | c.1859T= (p.Phe620=) c.1856T= (p.Phe619=) | |
12 | g.65238753T>A | CA385671242 | LEMD3 | c.1860T>A (p.Phe620Leu) c.1857T>A (p.Phe619Leu) | |
12 | g.65238753T>C | CA6671057 | LEMD3 | c.1860T>C (p.Phe620=) c.1857T>C (p.Phe619=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65238753T>G | CA385671243 | LEMD3 | c.1860T>G (p.Phe620Leu) c.1857T>G (p.Phe619Leu) | |
12 | g.65238753T= | CA2042444609 | LEMD3 | c.1860T= (p.Phe620=) c.1857T= (p.Phe619=) | |
12 | g.65238754T>A | CA385671244 | LEMD3 | c.1861T>A (p.Trp621Arg) c.1858T>A (p.Trp620Arg) | |
12 | g.65238754T>C | CA385671245 | LEMD3 | c.1861T>C (p.Trp621Arg) c.1858T>C (p.Trp620Arg) | |
12 | g.65238754T>G | CA385671246 | LEMD3 | c.1861T>G (p.Trp621Gly) c.1858T>G (p.Trp620Gly) | |
12 | g.65238755G>A | CA385671247 | LEMD3 | c.1862G>A (p.Trp621Ter) c.1859G>A (p.Trp620Ter) | |
12 | g.65238755G>C | CA385671248 | LEMD3 | c.1862G>C (p.Trp621Ser) c.1859G>C (p.Trp620Ser) | |
12 | g.65238755G>T | CA385671249 | LEMD3 | c.1862G>T (p.Trp621Leu) c.1859G>T (p.Trp620Leu) | |
12 | g.65238756G>A | CA385671250 | LEMD3 | c.1863G>A (p.Trp621Ter) c.1860G>A (p.Trp620Ter) | |
12 | g.65238756G>C | CA385671251 | LEMD3 | c.1863G>C (p.Trp621Cys) c.1860G>C (p.Trp620Cys) | |
12 | g.65238756G= | CA2042444613 | LEMD3 | c.1863G= (p.Trp621=) c.1860G= (p.Trp620=) | |
12 | g.65238756G>T | CA385671252 | LEMD3 | c.1863G>T (p.Trp621Cys) c.1860G>T (p.Trp620Cys) | dbSNP gnomAD v4 |
12 | g.65238757T>A | CA385671254 | LEMD3 | c.1864T>A (p.Cys622Ser) c.1861T>A (p.Cys621Ser) | |
12 | g.65238757T>C | CA385671255 | LEMD3 | c.1864T>C (p.Cys622Arg) c.1861T>C (p.Cys621Arg) | |
12 | g.65238757T>G | CA385671253 | LEMD3 | c.1864T>G (p.Cys622Gly) c.1861T>G (p.Cys621Gly) | |
12 | g.65238758G>A | CA385671256 | LEMD3 | c.1865G>A (p.Cys622Tyr) c.1862G>A (p.Cys621Tyr) | |
12 | g.65238758G>C | CA385671257 | LEMD3 | c.1865G>C (p.Cys622Ser) c.1862G>C (p.Cys621Ser) | |
12 | g.65238758G>T | CA385671258 | LEMD3 | c.1865G>T (p.Cys622Phe) c.1862G>T (p.Cys621Phe) | |
12 | g.65238759T>A | CA385671259 | LEMD3 | c.1866T>A (p.Cys622Ter) c.1863T>A (p.Cys621Ter) | |
12 | g.65238759T>C | CA480666158 | LEMD3 | c.1866T>C (p.Cys622=) c.1863T>C (p.Cys621=) | |
12 | g.65238759T>G | CA385671260 | LEMD3 | c.1866T>G (p.Cys622Trp) c.1863T>G (p.Cys621Trp) | |
12 | g.65238760C>A | CA385671262 | LEMD3 | c.1867C>A (p.Arg623Ser) c.1864C>A (p.Arg622Ser) | |
12 | g.65238760C= | CA2042444619 | LEMD3 | c.1867C= (p.Arg623=) c.1864C= (p.Arg622=) | |
12 | g.65238760C>G | CA385671261 | LEMD3 | c.1867C>G (p.Arg623Gly) c.1864C>G (p.Arg622Gly) | |
12 | g.65238760C>T | CA238915066 | LEMD3 | c.1867C>T (p.Arg623Cys) c.1864C>T (p.Arg622Cys) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.65238761G>A | CA6671058 | LEMD3 | c.1868G>A (p.Arg623His) c.1865G>A (p.Arg622His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65238761G>C | CA385671263 | LEMD3 | c.1868G>C (p.Arg623Pro) c.1865G>C (p.Arg622Pro) | |
12 | g.65238761G= | CA2042444626 | LEMD3 | c.1868G= (p.Arg623=) c.1865G= (p.Arg622=) | |
12 | g.65238761G>T | CA385671264 | LEMD3 | c.1868G>T (p.Arg623Leu) c.1865G>T (p.Arg622Leu) | |
12 | g.65238762T>A | CA480666161 | LEMD3 | c.1869T>A (p.Arg623=) c.1866T>A (p.Arg622=) | |
12 | g.65238762T>C | CA480666159 | LEMD3 | c.1869T>C (p.Arg623=) c.1866T>C (p.Arg622=) | gnomAD v4 |
12 | g.65238762T>G | CA480666160 | LEMD3 | c.1869T>G (p.Arg623=) c.1866T>G (p.Arg622=) | |
12 | g.65238763T>A | CA385671265 | LEMD3 | c.1870T>A (p.Phe624Ile) c.1867T>A (p.Phe623Ile) | |
12 | g.65238763T>C | CA385671266 | LEMD3 | c.1870T>C (p.Phe624Leu) c.1867T>C (p.Phe623Leu) | |
12 | g.65238763T>G | CA385671267 | LEMD3 | c.1870T>G (p.Phe624Val) c.1867T>G (p.Phe623Val) | |
12 | g.65238764T>A | CA385671268 | LEMD3 | c.1871T>A (p.Phe624Tyr) c.1868T>A (p.Phe623Tyr) | |
12 | g.65238764T>C | CA385671270 | LEMD3 | c.1871T>C (p.Phe624Ser) c.1868T>C (p.Phe623Ser) | |
12 | g.65238764T>G | CA385671269 | LEMD3 | c.1871T>G (p.Phe624Cys) c.1868T>G (p.Phe623Cys) | |
12 | g.65238765T>A | CA385671271 | LEMD3 | c.1872T>A (p.Phe624Leu) c.1869T>A (p.Phe623Leu) | |
12 | g.65238765T>C | CA480666162 | LEMD3 | c.1872T>C (p.Phe624=) c.1869T>C (p.Phe623=) | |
12 | g.65238765T>G | CA385671272 | LEMD3 | c.1872T>G (p.Phe624Leu) c.1869T>G (p.Phe623Leu) | |
12 | g.65238766C>A | CA6671060 | LEMD3 | c.1873C>A (p.Arg625=) c.1870C>A (p.Arg624=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65238766C= | CA2042444641 | LEMD3 | c.1873C= (p.Arg625=) c.1870C= (p.Arg624=) | |
12 | g.65238766C>G | CA385671273 | LEMD3 | c.1873C>G (p.Arg625Gly) c.1870C>G (p.Arg624Gly) | |
12 | g.65238766C>T | CA6671059 | LEMD3 | c.1873C>T (p.Arg625Ter) c.1870C>T (p.Arg624Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.65238767G>A | CA6671061 | LEMD3 | c.1874G>A (p.Arg625Gln) c.1871G>A (p.Arg624Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65238767G>C | CA385671274 | LEMD3 | c.1874G>C (p.Arg625Pro) c.1871G>C (p.Arg624Pro) | |
12 | g.65238767G= | CA2042444645 | LEMD3 | c.1874G= (p.Arg625=) c.1871G= (p.Arg624=) | |
12 | g.65238767G>T | CA385671275 | LEMD3 | c.1874G>T (p.Arg625Leu) c.1871G>T (p.Arg624Leu) | |
12 | g.65238768A>C | CA480666164 | LEMD3 | c.1875A>C (p.Arg625=) c.1872A>C (p.Arg624=) | |
12 | g.65238768A>G | CA480666165 | LEMD3 | c.1875A>G (p.Arg625=) c.1872A>G (p.Arg624=) | |
12 | g.65238768A>T | CA480666166 | LEMD3 | c.1875A>T (p.Arg625=) c.1872A>T (p.Arg624=) | |
12 | g.65238769C>A | CA385671276 | LEMD3 | c.1876C>A (p.Arg626Ser) c.1873C>A (p.Arg625Ser) | |
12 | g.65238769C= | CA2042444648 | LEMD3 | c.1876C= (p.Arg626=) c.1873C= (p.Arg625=) | |
12 | g.65238769C>G | CA385671277 | LEMD3 | c.1876C>G (p.Arg626Gly) c.1873C>G (p.Arg625Gly) | |
12 | g.65238769C>T | CA385671278 | LEMD3 | c.1876C>T (p.Arg626Cys) c.1873C>T (p.Arg625Cys) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.65238770G>A | CA6671062 | LEMD3 | c.1877G>A (p.Arg626His) c.1874G>A (p.Arg625His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65238770G>C | CA385671280 | LEMD3 | c.1877G>C (p.Arg626Pro) c.1874G>C (p.Arg625Pro) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.65238770G= | CA2042444651 | LEMD3 | c.1877G= (p.Arg626=) c.1874G= (p.Arg625=) | |
12 | g.65238770G>T | CA385671279 | LEMD3 | c.1877G>T (p.Arg626Leu) c.1874G>T (p.Arg625Leu) | |
12 | g.65238771T>A | CA480666167 | LEMD3 | c.1878T>A (p.Arg626=) c.1875T>A (p.Arg625=) | |
12 | g.65238771T>C | CA480666168 | LEMD3 | c.1878T>C (p.Arg626=) c.1875T>C (p.Arg625=) | |
12 | g.65238771T>G | CA480666169 | LEMD3 | c.1878T>G (p.Arg626=) c.1875T>G (p.Arg625=) | |
12 | g.65238772G>A | CA6671063 | LEMD3 | c.1879G>A (p.Ala627Thr) c.1876G>A (p.Ala626Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65238772G>C | CA385671282 | LEMD3 | c.1879G>C (p.Ala627Pro) c.1876G>C (p.Ala626Pro) | |
12 | g.65238772G= | CA2042444656 | LEMD3 | c.1879G= (p.Ala627=) c.1876G= (p.Ala626=) | |
12 | g.65238772G>T | CA385671281 | LEMD3 | c.1879G>T (p.Ala627Ser) c.1876G>T (p.Ala626Ser) | dbSNP gnomAD v2 |
12 | g.65238773C>A | CA385671283 | LEMD3 | c.1880C>A (p.Ala627Asp) c.1877C>A (p.Ala626Asp) | |
12 | g.65238773C>G | CA385671285 | LEMD3 | c.1880C>G (p.Ala627Gly) c.1877C>G (p.Ala626Gly) | gnomAD v4 |
12 | g.65238773C>T | CA385671284 | LEMD3 | c.1880C>T (p.Ala627Val) c.1877C>T (p.Ala626Val) | |
12 | g.65238774T>A | CA480666171 | LEMD3 | c.1881T>A (p.Ala627=) c.1878T>A (p.Ala626=) | |
12 | g.65238774T>C | CA6671064 | LEMD3 | c.1881T>C (p.Ala627=) c.1878T>C (p.Ala626=) | dbSNP ExAC gnomAD v4 |
12 | g.65238774T>G | CA480666172 | LEMD3 | c.1881T>G (p.Ala627=) c.1878T>G (p.Ala626=) | |
12 | g.65238774T= | CA2042444659 | LEMD3 | c.1881T= (p.Ala627=) c.1878T= (p.Ala626=) | |
12 | g.65238775T>A | CA385671288 | LEMD3 | c.1882T>A (p.Phe628Ile) c.1879T>A (p.Phe627Ile) | |
12 | g.65238775T>C | CA385671286 | LEMD3 | c.1882T>C (p.Phe628Leu) c.1879T>C (p.Phe627Leu) | |
12 | g.65238775T>G | CA385671287 | LEMD3 | c.1882T>G (p.Phe628Val) c.1879T>G (p.Phe627Val) | |
12 | g.65238776T>A | CA385671289 | LEMD3 | c.1883T>A (p.Phe628Tyr) c.1880T>A (p.Phe627Tyr) | |
12 | g.65238776T>C | CA385671290 | LEMD3 | c.1883T>C (p.Phe628Ser) c.1880T>C (p.Phe627Ser) | dbSNP |
12 | g.65238776T>G | CA385671291 | LEMD3 | c.1883T>G (p.Phe628Cys) c.1880T>G (p.Phe627Cys) | |
12 | g.65238776T= | CA2042444685 | LEMD3 | c.1883T= (p.Phe628=) c.1880T= (p.Phe627=) | |
12 | g.65238777T>A | CA385671292 | LEMD3 | c.1884T>A (p.Phe628Leu) c.1881T>A (p.Phe627Leu) | |
12 | g.65238777T>C | CA480666173 | LEMD3 | c.1884T>C (p.Phe628=) c.1881T>C (p.Phe627=) | |
12 | g.65238777T>G | CA385671293 | LEMD3 | c.1884T>G (p.Phe628Leu) c.1881T>G (p.Phe627Leu) | |
12 | g.65238778G>A | CA385671294 | LEMD3 | c.1885G>A (p.Val629Ile) c.1882G>A (p.Val628Ile) | |
12 | g.65238778G>C | CA385671295 | LEMD3 | c.1885G>C (p.Val629Leu) c.1882G>C (p.Val628Leu) | gnomAD v4 |
12 | g.65238778G>T | CA385671296 | LEMD3 | c.1885G>T (p.Val629Phe) c.1882G>T (p.Val628Phe) | gnomAD v4 |
12 | g.65238779T>A | CA385671297 | LEMD3 | c.1886T>A (p.Val629Asp) c.1883T>A (p.Val628Asp) | |
12 | g.65238779T>C | CA385671298 | LEMD3 | c.1886T>C (p.Val629Ala) c.1883T>C (p.Val628Ala) | gnomAD v4 |
12 | g.65238779T>G | CA385671299 | LEMD3 | c.1886T>G (p.Val629Gly) c.1883T>G (p.Val628Gly) | |
12 | g.65238780T>A | CA480666174 | LEMD3 | c.1887T>A (p.Val629=) c.1884T>A (p.Val628=) | |
12 | g.65238780T>C | CA480666175 | LEMD3 | c.1887T>C (p.Val629=) c.1884T>C (p.Val628=) | gnomAD v4 |
12 | g.65238780T>G | CA480666176 | LEMD3 | c.1887T>G (p.Val629=) c.1884T>G (p.Val628=) | |
12 | g.65238781A>C | CA385671300 | LEMD3 | c.1888A>C (p.Thr630Pro) c.1885A>C (p.Thr629Pro) | |
12 | g.65238781A>G | CA385671302 | LEMD3 | c.1888A>G (p.Thr630Ala) c.1885A>G (p.Thr629Ala) | |
12 | g.65238781A>T | CA385671301 | LEMD3 | c.1888A>T (p.Thr630Ser) c.1885A>T (p.Thr629Ser) | |
12 | g.65238782C>A | CA385671303 | LEMD3 | c.1889C>A (p.Thr630Asn) c.1886C>A (p.Thr629Asn) | |
12 | g.65238782C= | CA2042444691 | LEMD3 | c.1889C= (p.Thr630=) c.1886C= (p.Thr629=) | |
12 | g.65238782C>G | CA385671304 | LEMD3 | c.1889C>G (p.Thr630Ser) c.1886C>G (p.Thr629Ser) | dbSNP |
12 | g.65238782C>T | CA385671305 | LEMD3 | c.1889C>T (p.Thr630Ile) c.1886C>T (p.Thr629Ile) | |
12 | g.65238783T>A | CA480666179 | LEMD3 | c.1890T>A (p.Thr630=) c.1887T>A (p.Thr629=) | gnomAD v4 |
12 | g.65238783T>C | CA480666177 | LEMD3 | c.1890T>C (p.Thr630=) c.1887T>C (p.Thr629=) | |
12 | g.65238783T>G | CA480666178 | LEMD3 | c.1890T>G (p.Thr630=) c.1887T>G (p.Thr629=) | |
12 | g.65238784G>A | CA385671306 | LEMD3 | c.1891G>A (p.Val631Ile) c.1888G>A (p.Val630Ile) | |
12 | g.65238784G>C | CA385671307 | LEMD3 | c.1891G>C (p.Val631Leu) c.1888G>C (p.Val630Leu) | gnomAD v4 |
12 | g.65238784G>T | CA385671308 | LEMD3 | c.1891G>T (p.Val631Leu) c.1888G>T (p.Val630Leu) | gnomAD v4 |
12 | g.65238785T>A | CA385671309 | LEMD3 | c.1892T>A (p.Val631Glu) c.1889T>A (p.Val630Glu) | |
12 | g.65238785T>C | CA6671065 | LEMD3 | c.1892T>C (p.Val631Ala) c.1889T>C (p.Val630Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65238785T>G | CA385671310 | LEMD3 | c.1892T>G (p.Val631Gly) c.1889T>G (p.Val630Gly) | |
12 | g.65238785T= | CA2042444698 | LEMD3 | c.1892T= (p.Val631=) c.1889T= (p.Val630=) | |
12 | g.65238786A= | CA2042444709 | LEMD3 | c.1893A= (p.Val631=) c.1890A= (p.Val630=) | |
12 | g.65238786A>C | CA480666180 | LEMD3 | c.1893A>C (p.Val631=) c.1890A>C (p.Val630=) | |
12 | g.65238786A>G | CA480666181 | LEMD3 | c.1893A>G (p.Val631=) c.1890A>G (p.Val630=) | ClinVar dbSNP gnomAD v4 |
12 | g.65238786A>T | CA480666182 | LEMD3 | c.1893A>T (p.Val631=) c.1890A>T (p.Val630=) | |
12 | g.65238787A>C | CA385671313 | LEMD3 | c.1894A>C (p.Thr632Pro) c.1891A>C (p.Thr631Pro) | |
12 | g.65238787A>G | CA385671312 | LEMD3 | c.1894A>G (p.Thr632Ala) c.1891A>G (p.Thr631Ala) | |
12 | g.65238787A>T | CA385671311 | LEMD3 | c.1894A>T (p.Thr632Ser) c.1891A>T (p.Thr631Ser) | |
12 | g.65238788C>A | CA385671314 | LEMD3 | c.1895C>A (p.Thr632Asn) c.1892C>A (p.Thr631Asn) | |
12 | g.65238788C= | CA2042444718 | LEMD3 | c.1895C= (p.Thr632=) c.1892C= (p.Thr631=) | |
12 | g.65238788C>G | CA385671315 | LEMD3 | c.1895C>G (p.Thr632Ser) c.1892C>G (p.Thr631Ser) | |
12 | g.65238788C>T | CA385671316 | LEMD3 | c.1895C>T (p.Thr632Ile) c.1892C>T (p.Thr631Ile) | dbSNP |
12 | g.65238789T>A | CA480666184 | LEMD3 | c.1896T>A (p.Thr632=) c.1893T>A (p.Thr631=) | |
12 | g.65238789T>C | CA480666183 | LEMD3 | c.1896T>C (p.Thr632=) c.1893T>C (p.Thr631=) | |
12 | g.65238789T>G | CA480666185 | LEMD3 | c.1896T>G (p.Thr632=) c.1893T>G (p.Thr631=) | |
12 | g.65238790C>A | CA385671317 | LEMD3 | c.1897C>A (p.His633Asn) c.1894C>A (p.His632Asn) | |
12 | g.65238790C= | CA2042444726 | LEMD3 | c.1897C= (p.His633=) c.1894C= (p.His632=) | |
12 | g.65238790C>G | CA385671318 | LEMD3 | c.1897C>G (p.His633Asp) c.1894C>G (p.His632Asp) | |
12 | g.65238790C>T | CA385671319 | LEMD3 | c.1897C>T (p.His633Tyr) c.1894C>T (p.His632Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65238791A= | CA2042444732 | LEMD3 | c.1898A= (p.His633=) c.1895A= (p.His632=) | |
12 | g.65238791A>C | CA385671320 | LEMD3 | c.1898A>C (p.His633Pro) c.1895A>C (p.His632Pro) | |
12 | g.65238791A>G | CA385671321 | LEMD3 | c.1898A>G (p.His633Arg) c.1895A>G (p.His632Arg) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65238791A>T | CA385671322 | LEMD3 | c.1898A>T (p.His633Leu) c.1895A>T (p.His632Leu) | |
12 | g.65238792C>A | CA385671323 | LEMD3 | c.1899C>A (p.His633Gln) c.1896C>A (p.His632Gln) | |
12 | g.65238792C= | CA2042444739 | LEMD3 | c.1899C= (p.His633=) c.1896C= (p.His632=) | |
12 | g.65238792C>G | CA385671324 | LEMD3 | c.1899C>G (p.His633Gln) c.1896C>G (p.His632Gln) | |
12 | g.65238792C>T | CA6671066 | LEMD3 | c.1899C>T (p.His633=) c.1896C>T (p.His632=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65238793A>C | CA480666187 | LEMD3 | c.1900A>C (p.Arg634=) c.1897A>C (p.Arg633=) | |
12 | g.65238793A>G | CA385671326 | LEMD3 | c.1900A>G (p.Arg634Gly) c.1897A>G (p.Arg633Gly) | |
12 | g.65238793A>T | CA385671325 | LEMD3 | c.1900A>T (p.Arg634Ter) c.1897A>T (p.Arg633Ter) | |
12 | g.65238794G>A | CA385671327 | LEMD3 | c.1901G>A (p.Arg634Lys) c.1898G>A (p.Arg633Lys) | |
12 | g.65238794G>C | CA385671328 | LEMD3 | c.1901G>C (p.Arg634Thr) c.1898G>C (p.Arg633Thr) | |
12 | g.65238794G>T | CA385671329 | LEMD3 | c.1901G>T (p.Arg634Ile) c.1898G>T (p.Arg633Ile) | |
12 | g.65238794_65238797delinsGATT | CA2042444747 | LEMD3 | c.1901_1904delinsGATT (p.Arg634=) c.1898_1901delinsGATT (p.Arg633=) | |
12 | g.65238795A= | CA2042444771 | LEMD3 | c.1902A= (p.Arg634=) c.1899A= (p.Arg633=) | |
12 | g.65238795A>C | CA385671330 | LEMD3 | c.1902A>C (p.Arg634Ser) c.1899A>C (p.Arg633Ser) | |
12 | g.65238795A>G | CA6671067 | LEMD3 | c.1902A>G (p.Arg634=) c.1899A>G (p.Arg633=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65238795A>T | CA385671331 | LEMD3 | c.1902A>T (p.Arg634Ser) c.1899A>T (p.Arg633Ser) | |
12 | g.65238798_65238800del | CA605654106 | LEMD3 | c.1905_1907del (p.Leu636del) c.1902_1904del (p.Leu635del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65238796T>A | CA385671332 | LEMD3 | c.1903T>A (p.Leu635Ile) c.1900T>A (p.Leu634Ile) | gnomAD v4 |
12 | g.65238796T>C | CA480666188 | LEMD3 | c.1903T>C (p.Leu635=) c.1900T>C (p.Leu634=) | |
12 | g.65238796T>G | CA385671333 | LEMD3 | c.1903T>G (p.Leu635Val) c.1900T>G (p.Leu634Val) |