| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23876344del | CA8915872 | LAMA3 | c.222del (p.Cys75ValfsTer?) c.5049del (p.Cys1684ValfsTer?) c.1941del (p.Cys648ValfsTer?) c.5076del (p.Cys1693ValfsTer?) c.5067del (p.Cys1690ValfsTer?) c.5058del (p.Cys1687ValfsTer?) c.4944del (p.Cys1649ValfsTer?) c.2928del (p.Cys977ValfsTer?) c.618del (p.Cys207ValfsTer?) n.5317del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23876344G>A | CA503327879 | LAMA3 | c.222G>A (p.Arg74=) c.5049G>A (p.Arg1683=) c.1941G>A (p.Arg647=) c.5076G>A (p.Arg1692=) c.5067G>A (p.Arg1689=) c.5058G>A (p.Arg1686=) c.4944G>A (p.Arg1648=) c.2928G>A (p.Arg976=) c.618G>A (p.Arg206=) n.5317G>A | ClinVar dbSNP gnomAD v4 |
| 18 | g.23876344G>C | CA8915874 | LAMA3 | c.222G>C (p.Arg74=) c.5049G>C (p.Arg1683=) c.1941G>C (p.Arg647=) c.5076G>C (p.Arg1692=) c.5067G>C (p.Arg1689=) c.5058G>C (p.Arg1686=) c.4944G>C (p.Arg1648=) c.2928G>C (p.Arg976=) c.618G>C (p.Arg206=) n.5317G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23876344G= | CA2290312344 | LAMA3 | c.222G= (p.Arg74=) c.5049G= (p.Arg1683=) c.1941G= (p.Arg647=) c.5076G= (p.Arg1692=) c.5067G= (p.Arg1689=) c.5058G= (p.Arg1686=) c.4944G= (p.Arg1648=) c.2928G= (p.Arg976=) c.618G= (p.Arg206=) n.5317G= | |
| 18 | g.23876344G>T | CA503327880 | LAMA3 | c.222G>T (p.Arg74=) c.5049G>T (p.Arg1683=) c.1941G>T (p.Arg647=) c.5076G>T (p.Arg1692=) c.5067G>T (p.Arg1689=) c.5058G>T (p.Arg1686=) c.4944G>T (p.Arg1648=) c.2928G>T (p.Arg976=) c.618G>T (p.Arg206=) n.5317G>T | gnomAD v4 |
| 18 | g.23876345T>A | CA402044953 | LAMA3 | c.223T>A (p.Cys75Ser) c.5050T>A (p.Cys1684Ser) c.1942T>A (p.Cys648Ser) c.5077T>A (p.Cys1693Ser) c.5068T>A (p.Cys1690Ser) c.5059T>A (p.Cys1687Ser) c.4945T>A (p.Cys1649Ser) c.2929T>A (p.Cys977Ser) c.619T>A (p.Cys207Ser) n.5318T>A | gnomAD v4 |
| 18 | g.23876345T>C | CA402044955 | LAMA3 | c.223T>C (p.Cys75Arg) c.5050T>C (p.Cys1684Arg) c.1942T>C (p.Cys648Arg) c.5077T>C (p.Cys1693Arg) c.5068T>C (p.Cys1690Arg) c.5059T>C (p.Cys1687Arg) c.4945T>C (p.Cys1649Arg) c.2929T>C (p.Cys977Arg) c.619T>C (p.Cys207Arg) n.5318T>C | |
| 18 | g.23876345T>G | CA402044954 | LAMA3 | c.223T>G (p.Cys75Gly) c.5050T>G (p.Cys1684Gly) c.1942T>G (p.Cys648Gly) c.5077T>G (p.Cys1693Gly) c.5068T>G (p.Cys1690Gly) c.5059T>G (p.Cys1687Gly) c.4945T>G (p.Cys1649Gly) c.2929T>G (p.Cys977Gly) c.619T>G (p.Cys207Gly) n.5318T>G | dbSNP |
| 18 | g.23876345T= | CA2290312345 | LAMA3 | c.223T= (p.Cys75=) c.5050T= (p.Cys1684=) c.1942T= (p.Cys648=) c.5077T= (p.Cys1693=) c.5068T= (p.Cys1690=) c.5059T= (p.Cys1687=) c.4945T= (p.Cys1649=) c.2929T= (p.Cys977=) c.619T= (p.Cys207=) n.5318T= | |
| 18 | g.23876346G>A | CA402044956 | LAMA3 | c.224G>A (p.Cys75Tyr) c.5051G>A (p.Cys1684Tyr) c.1943G>A (p.Cys648Tyr) c.5078G>A (p.Cys1693Tyr) c.5069G>A (p.Cys1690Tyr) c.5060G>A (p.Cys1687Tyr) c.4946G>A (p.Cys1649Tyr) c.2930G>A (p.Cys977Tyr) c.620G>A (p.Cys207Tyr) n.5319G>A | |
| 18 | g.23876346G>C | CA402044957 | LAMA3 | c.224G>C (p.Cys75Ser) c.5051G>C (p.Cys1684Ser) c.1943G>C (p.Cys648Ser) c.5078G>C (p.Cys1693Ser) c.5069G>C (p.Cys1690Ser) c.5060G>C (p.Cys1687Ser) c.4946G>C (p.Cys1649Ser) c.2930G>C (p.Cys977Ser) c.620G>C (p.Cys207Ser) n.5319G>C | |
| 18 | g.23876346G>T | CA402044958 | LAMA3 | c.224G>T (p.Cys75Phe) c.5051G>T (p.Cys1684Phe) c.1943G>T (p.Cys648Phe) c.5078G>T (p.Cys1693Phe) c.5069G>T (p.Cys1690Phe) c.5060G>T (p.Cys1687Phe) c.4946G>T (p.Cys1649Phe) c.2930G>T (p.Cys977Phe) c.620G>T (p.Cys207Phe) n.5319G>T | |
| 18 | g.23876347T>A | CA402044959 | LAMA3 | c.225T>A (p.Cys75Ter) c.5052T>A (p.Cys1684Ter) c.1944T>A (p.Cys648Ter) c.5079T>A (p.Cys1693Ter) c.5070T>A (p.Cys1690Ter) c.5061T>A (p.Cys1687Ter) c.4947T>A (p.Cys1649Ter) c.2931T>A (p.Cys977Ter) c.621T>A (p.Cys207Ter) n.5320T>A | gnomAD v4 |
| 18 | g.23876347T>C | CA503327884 | LAMA3 | c.225T>C (p.Cys75=) c.5052T>C (p.Cys1684=) c.1944T>C (p.Cys648=) c.5079T>C (p.Cys1693=) c.5070T>C (p.Cys1690=) c.5061T>C (p.Cys1687=) c.4947T>C (p.Cys1649=) c.2931T>C (p.Cys977=) c.621T>C (p.Cys207=) n.5320T>C | |
| 18 | g.23876347T>G | CA402044960 | LAMA3 | c.225T>G (p.Cys75Trp) c.5052T>G (p.Cys1684Trp) c.1944T>G (p.Cys648Trp) c.5079T>G (p.Cys1693Trp) c.5070T>G (p.Cys1690Trp) c.5061T>G (p.Cys1687Trp) c.4947T>G (p.Cys1649Trp) c.2931T>G (p.Cys977Trp) c.621T>G (p.Cys207Trp) n.5320T>G | |
| 18 | g.23876348G>A | CA402044963 | LAMA3 | c.226G>A (p.Val76Ile) c.5053G>A (p.Val1685Ile) c.1945G>A (p.Val649Ile) c.5080G>A (p.Val1694Ile) c.5071G>A (p.Val1691Ile) c.5062G>A (p.Val1688Ile) c.4948G>A (p.Val1650Ile) c.2932G>A (p.Val978Ile) c.622G>A (p.Val208Ile) n.5321G>A | gnomAD v4 |
| 18 | g.23876348G>C | CA402044962 | LAMA3 | c.226G>C (p.Val76Leu) c.5053G>C (p.Val1685Leu) c.1945G>C (p.Val649Leu) c.5080G>C (p.Val1694Leu) c.5071G>C (p.Val1691Leu) c.5062G>C (p.Val1688Leu) c.4948G>C (p.Val1650Leu) c.2932G>C (p.Val978Leu) c.622G>C (p.Val208Leu) n.5321G>C | |
| 18 | g.23876348G>T | CA402044961 | LAMA3 | c.226G>T (p.Val76Phe) c.5053G>T (p.Val1685Phe) c.1945G>T (p.Val649Phe) c.5080G>T (p.Val1694Phe) c.5071G>T (p.Val1691Phe) c.5062G>T (p.Val1688Phe) c.4948G>T (p.Val1650Phe) c.2932G>T (p.Val978Phe) c.622G>T (p.Val208Phe) n.5321G>T | |
| 18 | g.23876349T>A | CA402044964 | LAMA3 | c.227T>A (p.Val76Asp) c.5054T>A (p.Val1685Asp) c.1946T>A (p.Val649Asp) c.5081T>A (p.Val1694Asp) c.5072T>A (p.Val1691Asp) c.5063T>A (p.Val1688Asp) c.4949T>A (p.Val1650Asp) c.2933T>A (p.Val978Asp) c.623T>A (p.Val208Asp) n.5322T>A | |
| 18 | g.23876349T>C | CA402044965 | LAMA3 | c.227T>C (p.Val76Ala) c.5054T>C (p.Val1685Ala) c.1946T>C (p.Val649Ala) c.5081T>C (p.Val1694Ala) c.5072T>C (p.Val1691Ala) c.5063T>C (p.Val1688Ala) c.4949T>C (p.Val1650Ala) c.2933T>C (p.Val978Ala) c.623T>C (p.Val208Ala) n.5322T>C | |
| 18 | g.23876349T>G | CA402044966 | LAMA3 | c.227T>G (p.Val76Gly) c.5054T>G (p.Val1685Gly) c.1946T>G (p.Val649Gly) c.5081T>G (p.Val1694Gly) c.5072T>G (p.Val1691Gly) c.5063T>G (p.Val1688Gly) c.4949T>G (p.Val1650Gly) c.2933T>G (p.Val978Gly) c.623T>G (p.Val208Gly) n.5322T>G | |
| 18 | g.23876350T>A | CA503327886 | LAMA3 | c.228T>A (p.Val76=) c.5055T>A (p.Val1685=) c.1947T>A (p.Val649=) c.5082T>A (p.Val1694=) c.5073T>A (p.Val1691=) c.5064T>A (p.Val1688=) c.4950T>A (p.Val1650=) c.2934T>A (p.Val978=) c.624T>A (p.Val208=) n.5323T>A | |
| 18 | g.23876350T>C | CA503327887 | LAMA3 | c.228T>C (p.Val76=) c.5055T>C (p.Val1685=) c.1947T>C (p.Val649=) c.5082T>C (p.Val1694=) c.5073T>C (p.Val1691=) c.5064T>C (p.Val1688=) c.4950T>C (p.Val1650=) c.2934T>C (p.Val978=) c.624T>C (p.Val208=) n.5323T>C | |
| 18 | g.23876350T>G | CA503327888 | LAMA3 | c.228T>G (p.Val76=) c.5055T>G (p.Val1685=) c.1947T>G (p.Val649=) c.5082T>G (p.Val1694=) c.5073T>G (p.Val1691=) c.5064T>G (p.Val1688=) c.4950T>G (p.Val1650=) c.2934T>G (p.Val978=) c.624T>G (p.Val208=) n.5323T>G | |
| 18 | g.23876351C>A | CA402044967 | LAMA3 | c.229C>A (p.Pro77Thr) c.5056C>A (p.Pro1686Thr) c.1948C>A (p.Pro650Thr) c.5083C>A (p.Pro1695Thr) c.5074C>A (p.Pro1692Thr) c.5065C>A (p.Pro1689Thr) c.4951C>A (p.Pro1651Thr) c.2935C>A (p.Pro979Thr) c.625C>A (p.Pro209Thr) n.5324C>A | |
| 18 | g.23876351C>G | CA402044968 | LAMA3 | c.229C>G (p.Pro77Ala) c.5056C>G (p.Pro1686Ala) c.1948C>G (p.Pro650Ala) c.5083C>G (p.Pro1695Ala) c.5074C>G (p.Pro1692Ala) c.5065C>G (p.Pro1689Ala) c.4951C>G (p.Pro1651Ala) c.2935C>G (p.Pro979Ala) c.625C>G (p.Pro209Ala) n.5324C>G | |
| 18 | g.23876351C>T | CA402044969 | LAMA3 | c.229C>T (p.Pro77Ser) c.5056C>T (p.Pro1686Ser) c.1948C>T (p.Pro650Ser) c.5083C>T (p.Pro1695Ser) c.5074C>T (p.Pro1692Ser) c.5065C>T (p.Pro1689Ser) c.4951C>T (p.Pro1651Ser) c.2935C>T (p.Pro979Ser) c.625C>T (p.Pro209Ser) n.5324C>T | |
| 18 | g.23876352C>A | CA402044972 | LAMA3 | c.230C>A (p.Pro77His) c.5057C>A (p.Pro1686His) c.1949C>A (p.Pro650His) c.5084C>A (p.Pro1695His) c.5075C>A (p.Pro1692His) c.5066C>A (p.Pro1689His) c.4952C>A (p.Pro1651His) c.2936C>A (p.Pro979His) c.626C>A (p.Pro209His) n.5325C>A | |
| 18 | g.23876352C>G | CA402044970 | LAMA3 | c.230C>G (p.Pro77Arg) c.5057C>G (p.Pro1686Arg) c.1949C>G (p.Pro650Arg) c.5084C>G (p.Pro1695Arg) c.5075C>G (p.Pro1692Arg) c.5066C>G (p.Pro1689Arg) c.4952C>G (p.Pro1651Arg) c.2936C>G (p.Pro979Arg) c.626C>G (p.Pro209Arg) n.5325C>G | |
| 18 | g.23876352C>T | CA402044971 | LAMA3 | c.230C>T (p.Pro77Leu) c.5057C>T (p.Pro1686Leu) c.1949C>T (p.Pro650Leu) c.5084C>T (p.Pro1695Leu) c.5075C>T (p.Pro1692Leu) c.5066C>T (p.Pro1689Leu) c.4952C>T (p.Pro1651Leu) c.2936C>T (p.Pro979Leu) c.626C>T (p.Pro209Leu) n.5325C>T | |
| 18 | g.23876353C>A | CA503327890 | LAMA3 | c.231C>A (p.Pro77=) c.5058C>A (p.Pro1686=) c.1950C>A (p.Pro650=) c.5085C>A (p.Pro1695=) c.5076C>A (p.Pro1692=) c.5067C>A (p.Pro1689=) c.4953C>A (p.Pro1651=) c.2937C>A (p.Pro979=) c.627C>A (p.Pro209=) n.5326C>A | |
| 18 | g.23876353C= | CA2290312346 | LAMA3 | c.231C= (p.Pro77=) c.5058C= (p.Pro1686=) c.1950C= (p.Pro650=) c.5085C= (p.Pro1695=) c.5076C= (p.Pro1692=) c.5067C= (p.Pro1689=) c.4953C= (p.Pro1651=) c.2937C= (p.Pro979=) c.627C= (p.Pro209=) n.5326C= | |
| 18 | g.23876353C>G | CA503327891 | LAMA3 | c.231C>G (p.Pro77=) c.5058C>G (p.Pro1686=) c.1950C>G (p.Pro650=) c.5085C>G (p.Pro1695=) c.5076C>G (p.Pro1692=) c.5067C>G (p.Pro1689=) c.4953C>G (p.Pro1651=) c.2937C>G (p.Pro979=) c.627C>G (p.Pro209=) n.5326C>G | |
| 18 | g.23876353C>T | CA8915875 | LAMA3 | c.231C>T (p.Pro77=) c.5058C>T (p.Pro1686=) c.1950C>T (p.Pro650=) c.5085C>T (p.Pro1695=) c.5076C>T (p.Pro1692=) c.5067C>T (p.Pro1689=) c.4953C>T (p.Pro1651=) c.2937C>T (p.Pro979=) c.627C>T (p.Pro209=) n.5326C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23876354T>A | CA402044973 | LAMA3 | c.232T>A (p.Cys78Ser) c.5059T>A (p.Cys1687Ser) c.1951T>A (p.Cys651Ser) c.5086T>A (p.Cys1696Ser) c.5077T>A (p.Cys1693Ser) c.5068T>A (p.Cys1690Ser) c.4954T>A (p.Cys1652Ser) c.2938T>A (p.Cys980Ser) c.628T>A (p.Cys210Ser) n.5327T>A | |
| 18 | g.23876354T>C | CA402044974 | LAMA3 | c.232T>C (p.Cys78Arg) c.5059T>C (p.Cys1687Arg) c.1951T>C (p.Cys651Arg) c.5086T>C (p.Cys1696Arg) c.5077T>C (p.Cys1693Arg) c.5068T>C (p.Cys1690Arg) c.4954T>C (p.Cys1652Arg) c.2938T>C (p.Cys980Arg) c.628T>C (p.Cys210Arg) n.5327T>C | |
| 18 | g.23876354T>G | CA402044975 | LAMA3 | c.232T>G (p.Cys78Gly) c.5059T>G (p.Cys1687Gly) c.1951T>G (p.Cys651Gly) c.5086T>G (p.Cys1696Gly) c.5077T>G (p.Cys1693Gly) c.5068T>G (p.Cys1690Gly) c.4954T>G (p.Cys1652Gly) c.2938T>G (p.Cys980Gly) c.628T>G (p.Cys210Gly) n.5327T>G | |
| 18 | g.23876355G>A | CA402044976 | LAMA3 | c.233G>A (p.Cys78Tyr) c.5060G>A (p.Cys1687Tyr) c.1952G>A (p.Cys651Tyr) c.5087G>A (p.Cys1696Tyr) c.5078G>A (p.Cys1693Tyr) c.5069G>A (p.Cys1690Tyr) c.4955G>A (p.Cys1652Tyr) c.2939G>A (p.Cys980Tyr) c.629G>A (p.Cys210Tyr) n.5328G>A | |
| 18 | g.23876355G>C | CA402044977 | LAMA3 | c.233G>C (p.Cys78Ser) c.5060G>C (p.Cys1687Ser) c.1952G>C (p.Cys651Ser) c.5087G>C (p.Cys1696Ser) c.5078G>C (p.Cys1693Ser) c.5069G>C (p.Cys1690Ser) c.4955G>C (p.Cys1652Ser) c.2939G>C (p.Cys980Ser) c.629G>C (p.Cys210Ser) n.5328G>C | |
| 18 | g.23876355G>T | CA402044978 | LAMA3 | c.233G>T (p.Cys78Phe) c.5060G>T (p.Cys1687Phe) c.1952G>T (p.Cys651Phe) c.5087G>T (p.Cys1696Phe) c.5078G>T (p.Cys1693Phe) c.5069G>T (p.Cys1690Phe) c.4955G>T (p.Cys1652Phe) c.2939G>T (p.Cys980Phe) c.629G>T (p.Cys210Phe) n.5328G>T | |
| 18 | g.23876356C>A | CA402044979 | LAMA3 | c.234C>A (p.Cys78Ter) c.5061C>A (p.Cys1687Ter) c.1953C>A (p.Cys651Ter) c.5088C>A (p.Cys1696Ter) c.5079C>A (p.Cys1693Ter) c.5070C>A (p.Cys1690Ter) c.4956C>A (p.Cys1652Ter) c.2940C>A (p.Cys980Ter) c.630C>A (p.Cys210Ter) n.5329C>A | ClinVar dbSNP |
| 18 | g.23876356C>G | CA402044980 | LAMA3 | c.234C>G (p.Cys78Trp) c.5061C>G (p.Cys1687Trp) c.1953C>G (p.Cys651Trp) c.5088C>G (p.Cys1696Trp) c.5079C>G (p.Cys1693Trp) c.5070C>G (p.Cys1690Trp) c.4956C>G (p.Cys1652Trp) c.2940C>G (p.Cys980Trp) c.630C>G (p.Cys210Trp) n.5329C>G | |
| 18 | g.23876356C>T | CA503327894 | LAMA3 | c.234C>T (p.Cys78=) c.5061C>T (p.Cys1687=) c.1953C>T (p.Cys651=) c.5088C>T (p.Cys1696=) c.5079C>T (p.Cys1693=) c.5070C>T (p.Cys1690=) c.4956C>T (p.Cys1652=) c.2940C>T (p.Cys980=) c.630C>T (p.Cys210=) n.5329C>T | gnomAD v4 |
| 18 | g.23876357A= | CA2290312347 | LAMA3 | c.235A= (p.Asn79=) c.5062A= (p.Asn1688=) c.1954A= (p.Asn652=) c.5089A= (p.Asn1697=) c.5080A= (p.Asn1694=) c.5071A= (p.Asn1691=) c.4957A= (p.Asn1653=) c.2941A= (p.Asn981=) c.631A= (p.Asn211=) n.5330A= | |
| 18 | g.23876357A>C | CA402044981 | LAMA3 | c.235A>C (p.Asn79His) c.5062A>C (p.Asn1688His) c.1954A>C (p.Asn652His) c.5089A>C (p.Asn1697His) c.5080A>C (p.Asn1694His) c.5071A>C (p.Asn1691His) c.4957A>C (p.Asn1653His) c.2941A>C (p.Asn981His) c.631A>C (p.Asn211His) n.5330A>C | |
| 18 | g.23876357A>G | CA402044982 | LAMA3 | c.235A>G (p.Asn79Asp) c.5062A>G (p.Asn1688Asp) c.1954A>G (p.Asn652Asp) c.5089A>G (p.Asn1697Asp) c.5080A>G (p.Asn1694Asp) c.5071A>G (p.Asn1691Asp) c.4957A>G (p.Asn1653Asp) c.2941A>G (p.Asn981Asp) c.631A>G (p.Asn211Asp) n.5330A>G | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23876357A>T | CA402044983 | LAMA3 | c.235A>T (p.Asn79Tyr) c.5062A>T (p.Asn1688Tyr) c.1954A>T (p.Asn652Tyr) c.5089A>T (p.Asn1697Tyr) c.5080A>T (p.Asn1694Tyr) c.5071A>T (p.Asn1691Tyr) c.4957A>T (p.Asn1653Tyr) c.2941A>T (p.Asn981Tyr) c.631A>T (p.Asn211Tyr) n.5330A>T | |
| 18 | g.23876358A= | CA2290312348 | LAMA3 | c.236A= (p.Asn79=) c.5063A= (p.Asn1688=) c.1955A= (p.Asn652=) c.5090A= (p.Asn1697=) c.5081A= (p.Asn1694=) c.5072A= (p.Asn1691=) c.4958A= (p.Asn1653=) c.2942A= (p.Asn981=) c.632A= (p.Asn211=) n.5331A= | |
| 18 | g.23876358A>C | CA402044984 | LAMA3 | c.236A>C (p.Asn79Thr) c.5063A>C (p.Asn1688Thr) c.1955A>C (p.Asn652Thr) c.5090A>C (p.Asn1697Thr) c.5081A>C (p.Asn1694Thr) c.5072A>C (p.Asn1691Thr) c.4958A>C (p.Asn1653Thr) c.2942A>C (p.Asn981Thr) c.632A>C (p.Asn211Thr) n.5331A>C | |
| 18 | g.23876358A>G | CA8915876 | LAMA3 | c.236A>G (p.Asn79Ser) c.5063A>G (p.Asn1688Ser) c.1955A>G (p.Asn652Ser) c.5090A>G (p.Asn1697Ser) c.5081A>G (p.Asn1694Ser) c.5072A>G (p.Asn1691Ser) c.4958A>G (p.Asn1653Ser) c.2942A>G (p.Asn981Ser) c.632A>G (p.Asn211Ser) n.5331A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |