UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38909009C>A | CA352167764 | SCN11A | c.1287G>T (p.Lys429Asn) c.1107G>T (p.Lys369Asn) c.1331G>T (n.1331G>T) c.624G>T (p.Lys208Asn) c.1662G>T (p.Lys554Asn) c.1102-887G>T (n.1102-887G>T) c.1014G>T (p.Lys338Asn) | |
| 3 | g.38909009C>G | CA352167766 | SCN11A | c.1287G>C (p.Lys429Asn) c.1107G>C (p.Lys369Asn) c.1331G>C (n.1331G>C) c.624G>C (p.Lys208Asn) c.1662G>C (p.Lys554Asn) c.1102-887G>C (n.1102-887G>C) c.1014G>C (p.Lys338Asn) | |
| 3 | g.38909009C>T | CA433141404 | SCN11A | c.1287G>A (p.Lys429=) c.1107G>A (p.Lys369=) c.1331G>A (n.1331G>A) c.624G>A (p.Lys208=) c.1662G>A (p.Lys554=) c.1102-887G>A (n.1102-887G>A) c.1014G>A (p.Lys338=) | |
| 3 | g.38909010T>A | CA352167771 | SCN11A | c.1286A>T (p.Lys429Met) c.1106A>T (p.Lys369Met) c.1330A>T (n.1330A>T) c.623A>T (p.Lys208Met) c.1661A>T (p.Lys554Met) c.1102-888A>T (n.1102-888A>T) c.1013A>T (p.Lys338Met) | |
| 3 | g.38909010T>C | CA352167773 | SCN11A | c.1286A>G (p.Lys429Arg) c.1106A>G (p.Lys369Arg) c.1330A>G (n.1330A>G) c.623A>G (p.Lys208Arg) c.1661A>G (p.Lys554Arg) c.1102-888A>G (n.1102-888A>G) c.1013A>G (p.Lys338Arg) | |
| 3 | g.38909010T>G | CA352167769 | SCN11A | c.1286A>C (p.Lys429Thr) c.1106A>C (p.Lys369Thr) c.1330A>C (n.1330A>C) c.623A>C (p.Lys208Thr) c.1661A>C (p.Lys554Thr) c.1102-888A>C (n.1102-888A>C) c.1013A>C (p.Lys338Thr) | |
| 3 | g.38909011T>A | CA352167775 | SCN11A | c.1285A>T (p.Lys429Ter) c.1105A>T (p.Lys369Ter) c.1329A>T (n.1329A>T) c.622A>T (p.Lys208Ter) c.1660A>T (p.Lys554Ter) c.1102-889A>T (n.1102-889A>T) c.1012A>T (p.Lys338Ter) | dbSNP |
| 3 | g.38909011T>C | CA352167777 | SCN11A | c.1285A>G (p.Lys429Glu) c.1105A>G (p.Lys369Glu) c.1329A>G (n.1329A>G) c.622A>G (p.Lys208Glu) c.1660A>G (p.Lys554Glu) c.1102-889A>G (n.1102-889A>G) c.1012A>G (p.Lys338Glu) | |
| 3 | g.38909011T>G | CA352167779 | SCN11A | c.1285A>C (p.Lys429Gln) c.1105A>C (p.Lys369Gln) c.1329A>C (n.1329A>C) c.622A>C (p.Lys208Gln) c.1660A>C (p.Lys554Gln) c.1102-889A>C (n.1102-889A>C) c.1012A>C (p.Lys338Gln) | dbSNP |
| 3 | g.38909011T= | CA1358724438 | SCN11A | c.1285A= (p.Lys429=) c.1105A= (p.Lys369=) c.1329A= (n.1329A=) c.622A= (p.Lys208=) c.1660A= (p.Lys554=) c.1102-889A= (n.1102-889A=) c.1012A= (p.Lys338=) | |
| 3 | g.38909012T>A | CA352167781 | SCN11A | c.1284A>T (p.Leu428Phe) c.1104A>T (p.Leu368Phe) c.1328A>T (n.1328A>T) c.621A>T (p.Leu207Phe) c.1659A>T (p.Leu553Phe) c.1102-890A>T (n.1102-890A>T) c.1011A>T (p.Leu337Phe) | |
| 3 | g.38909012T>C | CA433141406 | SCN11A | c.1284A>G (p.Leu428=) c.1104A>G (p.Leu368=) c.1328A>G (n.1328A>G) c.621A>G (p.Leu207=) c.1659A>G (p.Leu553=) c.1102-890A>G (n.1102-890A>G) c.1011A>G (p.Leu337=) | |
| 3 | g.38909012T>G | CA352167783 | SCN11A | c.1284A>C (p.Leu428Phe) c.1104A>C (p.Leu368Phe) c.1328A>C (n.1328A>C) c.621A>C (p.Leu207Phe) c.1659A>C (p.Leu553Phe) c.1102-890A>C (n.1102-890A>C) c.1011A>C (p.Leu337Phe) | |
| 3 | g.38909013A>C | CA352167786 | SCN11A | c.1283T>G (p.Leu428Ter) c.1103T>G (p.Leu368Ter) c.1327T>G (n.1327T>G) c.620T>G (p.Leu207Ter) c.1658T>G (p.Leu553Ter) c.1102-891T>G (n.1102-891T>G) c.1010T>G (p.Leu337Ter) | |
| 3 | g.38909013A>G | CA352167788 | SCN11A | c.1283T>C (p.Leu428Ser) c.1103T>C (p.Leu368Ser) c.1327T>C (n.1327T>C) c.620T>C (p.Leu207Ser) c.1658T>C (p.Leu553Ser) c.1102-891T>C (n.1102-891T>C) c.1010T>C (p.Leu337Ser) | |
| 3 | g.38909013A>T | CA352167790 | SCN11A | c.1283T>A (p.Leu428Ter) c.1103T>A (p.Leu368Ter) c.1327T>A (n.1327T>A) c.620T>A (p.Leu207Ter) c.1658T>A (p.Leu553Ter) c.1102-891T>A (n.1102-891T>A) c.1010T>A (p.Leu337Ter) | |
| 3 | g.38909014A>C | CA352167792 | SCN11A | c.1282T>G (p.Leu428Val) c.1102T>G (p.Leu368Val) c.1326T>G (n.1326T>G) c.619T>G (p.Leu207Val) c.1657T>G (p.Leu553Val) c.1102-892T>G (n.1102-892T>G) c.1009T>G (p.Leu337Val) | |
| 3 | g.38909014A>G | CA433141407 | SCN11A | c.1282T>C (p.Leu428=) c.1102T>C (p.Leu368=) c.1326T>C (n.1326T>C) c.619T>C (p.Leu207=) c.1657T>C (p.Leu553=) c.1102-892T>C (n.1102-892T>C) c.1009T>C (p.Leu337=) | |
| 3 | g.38909014A>T | CA352167794 | SCN11A | c.1282T>A (p.Leu428Ile) c.1102T>A (p.Leu368Ile) c.1326T>A (n.1326T>A) c.619T>A (p.Leu207Ile) c.1657T>A (p.Leu553Ile) c.1102-892T>A (n.1102-892T>A) c.1009T>A (p.Leu337Ile) | |
| 3 | g.38909015C>A | CA433141408 | SCN11A | c.1281G>T (p.Leu427=) c.1101G>T (p.Leu367=) c.1325G>T (n.1325G>T) c.618G>T (p.Leu206=) c.1656G>T (p.Leu552=) c.1102-893G>T (n.1102-893G>T) c.1008G>T (p.Leu336=) | |
| 3 | g.38909015C>G | CA433141409 | SCN11A | c.1281G>C (p.Leu427=) c.1101G>C (p.Leu367=) c.1325G>C (n.1325G>C) c.618G>C (p.Leu206=) c.1656G>C (p.Leu552=) c.1102-893G>C (n.1102-893G>C) c.1008G>C (p.Leu336=) | |
| 3 | g.38909015C>T | CA433141410 | SCN11A | c.1281G>A (p.Leu427=) c.1101G>A (p.Leu367=) c.1325G>A (n.1325G>A) c.618G>A (p.Leu206=) c.1656G>A (p.Leu552=) c.1102-893G>A (n.1102-893G>A) c.1008G>A (p.Leu336=) | |
| 3 | g.38909016A>C | CA352167796 | SCN11A | c.1280T>G (p.Leu427Arg) c.1100T>G (p.Leu367Arg) c.1324T>G (n.1324T>G) c.617T>G (p.Leu206Arg) c.1655T>G (p.Leu552Arg) c.1102-894T>G (n.1102-894T>G) c.1007T>G (p.Leu336Arg) | |
| 3 | g.38909016A>G | CA352167798 | SCN11A | c.1280T>C (p.Leu427Pro) c.1100T>C (p.Leu367Pro) c.1324T>C (n.1324T>C) c.617T>C (p.Leu206Pro) c.1655T>C (p.Leu552Pro) c.1102-894T>C (n.1102-894T>C) c.1007T>C (p.Leu336Pro) | |
| 3 | g.38909016A>T | CA352167800 | SCN11A | c.1280T>A (p.Leu427Gln) c.1100T>A (p.Leu367Gln) c.1324T>A (n.1324T>A) c.617T>A (p.Leu206Gln) c.1655T>A (p.Leu552Gln) c.1102-894T>A (n.1102-894T>A) c.1007T>A (p.Leu336Gln) | |
| 3 | g.38909017G>A | CA433141412 | SCN11A | c.1279C>T (p.Leu427=) c.1099C>T (p.Leu367=) c.1323C>T (n.1323C>T) c.616C>T (p.Leu206=) c.1654C>T (p.Leu552=) c.1102-895C>T (n.1102-895C>T) c.1006C>T (p.Leu336=) | COSMIC |
| 3 | g.38909017G>C | CA352167803 | SCN11A | c.1279C>G (p.Leu427Val) c.1099C>G (p.Leu367Val) c.1323C>G (n.1323C>G) c.616C>G (p.Leu206Val) c.1654C>G (p.Leu552Val) c.1102-895C>G (n.1102-895C>G) c.1006C>G (p.Leu336Val) | |
| 3 | g.38909017G>T | CA352167804 | SCN11A | c.1279C>A (p.Leu427Met) c.1099C>A (p.Leu367Met) c.1323C>A (n.1323C>A) c.616C>A (p.Leu206Met) c.1654C>A (p.Leu552Met) c.1102-895C>A (n.1102-895C>A) c.1006C>A (p.Leu336Met) | |
| 3 | g.38909018C>A | CA2322363 | SCN11A | c.1278G>T (p.Gln426His) c.1098G>T (p.Gln366His) c.1322G>T (n.1322G>T) c.615G>T (p.Gln205His) c.1653G>T (p.Gln551His) c.1102-896G>T (n.1102-896G>T) c.1005G>T (p.Gln335His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38909018C= | CA1358724439 | SCN11A | c.1278G= (p.Gln426=) c.1098G= (p.Gln366=) c.1322G= (n.1322G=) c.615G= (p.Gln205=) c.1653G= (p.Gln551=) c.1102-896G= (n.1102-896G=) c.1005G= (p.Gln335=) | |
| 3 | g.38909018C>G | CA352167807 | SCN11A | c.1278G>C (p.Gln426His) c.1098G>C (p.Gln366His) c.1322G>C (n.1322G>C) c.615G>C (p.Gln205His) c.1653G>C (p.Gln551His) c.1102-896G>C (n.1102-896G>C) c.1005G>C (p.Gln335His) | |
| 3 | g.38909018C>T | CA2322362 | SCN11A | c.1278G>A (p.Gln426=) c.1098G>A (p.Gln366=) c.1322G>A (n.1322G>A) c.615G>A (p.Gln205=) c.1653G>A (p.Gln551=) c.1102-896G>A (n.1102-896G>A) c.1005G>A (p.Gln335=) | dbSNP ExAC |
| 3 | g.38909019T>A | CA352167811 | SCN11A | c.1277A>T (p.Gln426Leu) c.1097A>T (p.Gln366Leu) c.1321A>T (n.1321A>T) c.614A>T (p.Gln205Leu) c.1652A>T (p.Gln551Leu) c.1102-897A>T (n.1102-897A>T) c.1004A>T (p.Gln335Leu) | |
| 3 | g.38909019T>C | CA352167813 | SCN11A | c.1277A>G (p.Gln426Arg) c.1097A>G (p.Gln366Arg) c.1321A>G (n.1321A>G) c.614A>G (p.Gln205Arg) c.1652A>G (p.Gln551Arg) c.1102-897A>G (n.1102-897A>G) c.1004A>G (p.Gln335Arg) | |
| 3 | g.38909019T>G | CA352167815 | SCN11A | c.1277A>C (p.Gln426Pro) c.1097A>C (p.Gln366Pro) c.1321A>C (n.1321A>C) c.614A>C (p.Gln205Pro) c.1652A>C (p.Gln551Pro) c.1102-897A>C (n.1102-897A>C) c.1004A>C (p.Gln335Pro) | |
| 3 | g.38909020del | CA2577555049 | SCN11A | c.1276del (p.Gln426SerfsTer3) c.1096del (p.Gln366SerfsTer3) c.1320del (n.1320del) c.613del (p.Gln205SerfsTer3) c.1651del (p.Gln551SerfsTer3) c.1102-898del (n.1102-898del) c.1003del (p.Gln335SerfsTer3) | |
| 3 | g.38909020G>A | CA352167817 | SCN11A | c.1276C>T (p.Gln426Ter) c.1096C>T (p.Gln366Ter) c.1320C>T (n.1320C>T) c.613C>T (p.Gln205Ter) c.1651C>T (p.Gln551Ter) c.1102-898C>T (n.1102-898C>T) c.1003C>T (p.Gln335Ter) | |
| 3 | g.38909020G>C | CA352167818 | SCN11A | c.1276C>G (p.Gln426Glu) c.1096C>G (p.Gln366Glu) c.1320C>G (n.1320C>G) c.613C>G (p.Gln205Glu) c.1651C>G (p.Gln551Glu) c.1102-898C>G (n.1102-898C>G) c.1003C>G (p.Gln335Glu) | |
| 3 | g.38909020G>T | CA352167819 | SCN11A | c.1276C>A (p.Gln426Lys) c.1096C>A (p.Gln366Lys) c.1320C>A (n.1320C>A) c.613C>A (p.Gln205Lys) c.1651C>A (p.Gln551Lys) c.1102-898C>A (n.1102-898C>A) c.1003C>A (p.Gln335Lys) | |
| 3 | g.38909021C>A | CA352167820 | SCN11A | c.1275G>T (p.Gln425His) c.1095G>T (p.Gln365His) c.1319G>T (n.1319G>T) c.612G>T (p.Gln204His) c.1650G>T (p.Gln550His) c.1102-899G>T (n.1102-899G>T) c.1002G>T (p.Gln334His) | |
| 3 | g.38909021C>G | CA352167821 | SCN11A | c.1275G>C (p.Gln425His) c.1095G>C (p.Gln365His) c.1319G>C (n.1319G>C) c.612G>C (p.Gln204His) c.1650G>C (p.Gln550His) c.1102-899G>C (n.1102-899G>C) c.1002G>C (p.Gln334His) | |
| 3 | g.38909021C>T | CA433141414 | SCN11A | c.1275G>A (p.Gln425=) c.1095G>A (p.Gln365=) c.1319G>A (n.1319G>A) c.612G>A (p.Gln204=) c.1650G>A (p.Gln550=) c.1102-899G>A (n.1102-899G>A) c.1002G>A (p.Gln334=) | |
| 3 | g.38909022T>A | CA352167824 | SCN11A | c.1274A>T (p.Gln425Leu) c.1094A>T (p.Gln365Leu) c.1318A>T (n.1318A>T) c.611A>T (p.Gln204Leu) c.1649A>T (p.Gln550Leu) c.1102-900A>T (n.1102-900A>T) c.1001A>T (p.Gln334Leu) | |
| 3 | g.38909022T>C | CA352167823 | SCN11A | c.1274A>G (p.Gln425Arg) c.1094A>G (p.Gln365Arg) c.1318A>G (n.1318A>G) c.611A>G (p.Gln204Arg) c.1649A>G (p.Gln550Arg) c.1102-900A>G (n.1102-900A>G) c.1001A>G (p.Gln334Arg) | gnomAD v4 |
| 3 | g.38909022T>G | CA352167822 | SCN11A | c.1274A>C (p.Gln425Pro) c.1094A>C (p.Gln365Pro) c.1318A>C (n.1318A>C) c.611A>C (p.Gln204Pro) c.1649A>C (p.Gln550Pro) c.1102-900A>C (n.1102-900A>C) c.1001A>C (p.Gln334Pro) | |
| 3 | g.38909023G>A | CA352167825 | SCN11A | c.1273C>T (p.Gln425Ter) c.1093C>T (p.Gln365Ter) c.1317C>T (n.1317C>T) c.610C>T (p.Gln204Ter) c.1648C>T (p.Gln550Ter) c.1102-901C>T (n.1102-901C>T) c.1000C>T (p.Gln334Ter) | ClinVar gnomAD v4 |
| 3 | g.38909023G>C | CA352167827 | SCN11A | c.1273C>G (p.Gln425Glu) c.1093C>G (p.Gln365Glu) c.1317C>G (n.1317C>G) c.610C>G (p.Gln204Glu) c.1648C>G (p.Gln550Glu) c.1102-901C>G (n.1102-901C>G) c.1000C>G (p.Gln334Glu) | |
| 3 | g.38909023G>T | CA352167826 | SCN11A | c.1273C>A (p.Gln425Lys) c.1093C>A (p.Gln365Lys) c.1317C>A (n.1317C>A) c.610C>A (p.Gln204Lys) c.1648C>A (p.Gln550Lys) c.1102-901C>A (n.1102-901C>A) c.1000C>A (p.Gln334Lys) | |
| 3 | g.38909024G>A | CA433141415 | SCN11A | c.1272C>T (p.Ala424=) c.1092C>T (p.Ala364=) c.1316C>T (n.1316C>T) c.609C>T (p.Ala203=) c.1647C>T (p.Ala549=) c.1102-902C>T (n.1102-902C>T) c.999C>T (p.Ala333=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38909024G>C | CA433141416 | SCN11A | c.1272C>G (p.Ala424=) c.1092C>G (p.Ala364=) c.1316C>G (n.1316C>G) c.609C>G (p.Ala203=) c.1647C>G (p.Ala549=) c.1102-902C>G (n.1102-902C>G) c.999C>G (p.Ala333=) | |
| 3 | g.38909024G= | CA1358724440 | SCN11A | c.1272C= (p.Ala424=) c.1092C= (p.Ala364=) c.1316C= (n.1316C=) c.609C= (p.Ala203=) c.1647C= (p.Ala549=) c.1102-902C= (n.1102-902C=) c.999C= (p.Ala333=) | |
| 3 | g.38909024G>T | CA433141417 | SCN11A | c.1272C>A (p.Ala424=) c.1092C>A (p.Ala364=) c.1316C>A (n.1316C>A) c.609C>A (p.Ala203=) c.1647C>A (p.Ala549=) c.1102-902C>A (n.1102-902C>A) c.999C>A (p.Ala333=) | |
| 3 | g.38909025G>A | CA352167828 | SCN11A | c.1271C>T (p.Ala424Val) c.1091C>T (p.Ala364Val) c.1315C>T (n.1315C>T) c.608C>T (p.Ala203Val) c.1646C>T (p.Ala549Val) c.1102-903C>T (n.1102-903C>T) c.998C>T (p.Ala333Val) | |
| 3 | g.38909025G>C | CA352167830 | SCN11A | c.1271C>G (p.Ala424Gly) c.1091C>G (p.Ala364Gly) c.1315C>G (n.1315C>G) c.608C>G (p.Ala203Gly) c.1646C>G (p.Ala549Gly) c.1102-903C>G (n.1102-903C>G) c.998C>G (p.Ala333Gly) | |
| 3 | g.38909025G>T | CA352167829 | SCN11A | c.1271C>A (p.Ala424Asp) c.1091C>A (p.Ala364Asp) c.1315C>A (n.1315C>A) c.608C>A (p.Ala203Asp) c.1646C>A (p.Ala549Asp) c.1102-903C>A (n.1102-903C>A) c.998C>A (p.Ala333Asp) | |
| 3 | g.38909026C>A | CA352167831 | SCN11A | c.1270G>T (p.Ala424Ser) c.1090G>T (p.Ala364Ser) c.1314G>T (n.1314G>T) c.607G>T (p.Ala203Ser) c.1645G>T (p.Ala549Ser) c.1102-904G>T (n.1102-904G>T) c.997G>T (p.Ala333Ser) | gnomAD v4 |
| 3 | g.38909026C>G | CA352167833 | SCN11A | c.1270G>C (p.Ala424Pro) c.1090G>C (p.Ala364Pro) c.1314G>C (n.1314G>C) c.607G>C (p.Ala203Pro) c.1645G>C (p.Ala549Pro) c.1102-904G>C (n.1102-904G>C) c.997G>C (p.Ala333Pro) | |
| 3 | g.38909026C>T | CA352167832 | SCN11A | c.1270G>A (p.Ala424Thr) c.1090G>A (p.Ala364Thr) c.1314G>A (n.1314G>A) c.607G>A (p.Ala203Thr) c.1645G>A (p.Ala549Thr) c.1102-904G>A (n.1102-904G>A) c.997G>A (p.Ala333Thr) | |
| 3 | g.38909027T>A | CA352167834 | SCN11A | c.1269A>T (p.Glu423Asp) c.1089A>T (p.Glu363Asp) c.1313A>T (n.1313A>T) c.606A>T (p.Glu202Asp) c.1644A>T (p.Glu548Asp) c.1102-905A>T (n.1102-905A>T) c.996A>T (p.Glu332Asp) | |
| 3 | g.38909027T>C | CA433141421 | SCN11A | c.1269A>G (p.Glu423=) c.1089A>G (p.Glu363=) c.1313A>G (n.1313A>G) c.606A>G (p.Glu202=) c.1644A>G (p.Glu548=) c.1102-905A>G (n.1102-905A>G) c.996A>G (p.Glu332=) | |
| 3 | g.38909027T>G | CA352167835 | SCN11A | c.1269A>C (p.Glu423Asp) c.1089A>C (p.Glu363Asp) c.1313A>C (n.1313A>C) c.606A>C (p.Glu202Asp) c.1644A>C (p.Glu548Asp) c.1102-905A>C (n.1102-905A>C) c.996A>C (p.Glu332Asp) | |
| 3 | g.38909027T= | CA1358724441 | SCN11A | c.1269A= (p.Glu423=) c.1089A= (p.Glu363=) c.1313A= (n.1313A=) c.606A= (p.Glu202=) c.1644A= (p.Glu548=) c.1102-905A= (n.1102-905A=) c.996A= (p.Glu332=) | |
| 3 | g.38909027_38909028insGTTAAGAGAG | CA542616121 | SCN11A | c.1268_1269insCTCTCTTAAC (p.Glu423AspfsTer22) c.1088_1089insCTCTCTTAAC (p.Glu363AspfsTer22) c.1312_1313insCTCTCTTAAC (n.1312_1313insCTCTCTTAAC) c.605_606insCTCTCTTAAC (p.Glu202AspfsTer22) c.1643_1644insCTCTCTTAAC (p.Glu548AspfsTer22) c.1102-906_1102-905insCTCTCTTAAC (n.1102-906_1102-905insCTCTCTTAAC) c.995_996insCTCTCTTAAC (p.Glu332AspfsTer22) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38909028T>A | CA352167836 | SCN11A | c.1268A>T (p.Glu423Val) c.1088A>T (p.Glu363Val) c.1312A>T (n.1312A>T) c.605A>T (p.Glu202Val) c.1643A>T (p.Glu548Val) c.1102-906A>T (n.1102-906A>T) c.995A>T (p.Glu332Val) | |
| 3 | g.38909028T>C | CA352167837 | SCN11A | c.1268A>G (p.Glu423Gly) c.1088A>G (p.Glu363Gly) c.1312A>G (n.1312A>G) c.605A>G (p.Glu202Gly) c.1643A>G (p.Glu548Gly) c.1102-906A>G (n.1102-906A>G) c.995A>G (p.Glu332Gly) | |
| 3 | g.38909028T>G | CA352167838 | SCN11A | c.1268A>C (p.Glu423Ala) c.1088A>C (p.Glu363Ala) c.1312A>C (n.1312A>C) c.605A>C (p.Glu202Ala) c.1643A>C (p.Glu548Ala) c.1102-906A>C (n.1102-906A>C) c.995A>C (p.Glu332Ala) | |
| 3 | g.38909030_38909039del | CA2665128527 | SCN11A | c.1259_1268del (p.Met420LysfsTer6) c.1079_1088del (p.Met360LysfsTer6) c.1303_1312del (n.1303_1312del) c.596_605del (p.Met199LysfsTer6) c.1634_1643del (p.Met545LysfsTer6) c.1102-915_1102-906del (n.1102-915_1102-906del) c.986_995del (p.Met329LysfsTer6) | gnomAD v4 |
| 3 | g.38909029C>A | CA352167839 | SCN11A | c.1267G>T (p.Glu423Ter) c.1087G>T (p.Glu363Ter) c.1311G>T (n.1311G>T) c.604G>T (p.Glu202Ter) c.1642G>T (p.Glu548Ter) c.1102-907G>T (n.1102-907G>T) c.994G>T (p.Glu332Ter) | |
| 3 | g.38909029C>G | CA352167840 | SCN11A | c.1267G>C (p.Glu423Gln) c.1087G>C (p.Glu363Gln) c.1311G>C (n.1311G>C) c.604G>C (p.Glu202Gln) c.1642G>C (p.Glu548Gln) c.1102-907G>C (n.1102-907G>C) c.994G>C (p.Glu332Gln) | |
| 3 | g.38909029C>T | CA352167841 | SCN11A | c.1267G>A (p.Glu423Lys) c.1087G>A (p.Glu363Lys) c.1311G>A (n.1311G>A) c.604G>A (p.Glu202Lys) c.1642G>A (p.Glu548Lys) c.1102-907G>A (n.1102-907G>A) c.994G>A (p.Glu332Lys) | gnomAD v4 COSMIC |
| 3 | g.38909029_38909034delinsCCTGAA | CA1358724442 | SCN11A | c.1262_1267delinsTTCAGG (p.Phe421=) c.1082_1087delinsTTCAGG (p.Phe361=) c.1306_1311delinsTTCAGG (n.1306_1311delinsTTCAGG) c.599_604delinsTTCAGG (p.Phe200=) c.1637_1642delinsTTCAGG (p.Phe546=) c.1102-912_1102-907delinsTTCAGG (n.1102-912_1102-907delinsTTCAGG) c.989_994delinsTTCAGG (p.Phe330=) | |
| 3 | g.38909030C>A | CA352167842 | SCN11A | c.1266G>T (p.Gln422His) c.1086G>T (p.Gln362His) c.1310G>T (n.1310G>T) c.603G>T (p.Gln201His) c.1641G>T (p.Gln547His) c.1102-908G>T (n.1102-908G>T) c.993G>T (p.Gln331His) | |
| 3 | g.38909030C>G | CA352167843 | SCN11A | c.1266G>C (p.Gln422His) c.1086G>C (p.Gln362His) c.1310G>C (n.1310G>C) c.603G>C (p.Gln201His) c.1641G>C (p.Gln547His) c.1102-908G>C (n.1102-908G>C) c.993G>C (p.Gln331His) | |
| 3 | g.38909030C>T | CA433141422 | SCN11A | c.1266G>A (p.Gln422=) c.1086G>A (p.Gln362=) c.1310G>A (n.1310G>A) c.603G>A (p.Gln201=) c.1641G>A (p.Gln547=) c.1102-908G>A (n.1102-908G>A) c.993G>A (p.Gln331=) | |
| 3 | g.38909030_38909034del | CA542616122 | SCN11A | c.1262_1266del (p.Phe421Ter) c.1082_1086del (p.Phe361Ter) c.1306_1310del (n.1306_1310del) c.599_603del (p.Phe200Ter) c.1637_1641del (p.Phe546Ter) c.1102-912_1102-908del (n.1102-912_1102-908del) c.989_993del (p.Phe330Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38909031T>A | CA352167845 | SCN11A | c.1265A>T (p.Gln422Leu) c.1085A>T (p.Gln362Leu) c.1309A>T (n.1309A>T) c.602A>T (p.Gln201Leu) c.1640A>T (p.Gln547Leu) c.1102-909A>T (n.1102-909A>T) c.992A>T (p.Gln331Leu) | |
| 3 | g.38909031T>C | CA2322364 | SCN11A | c.1265A>G (p.Gln422Arg) c.1085A>G (p.Gln362Arg) c.1309A>G (n.1309A>G) c.602A>G (p.Gln201Arg) c.1640A>G (p.Gln547Arg) c.1102-909A>G (n.1102-909A>G) c.992A>G (p.Gln331Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38909031T>G | CA352167844 | SCN11A | c.1265A>C (p.Gln422Pro) c.1085A>C (p.Gln362Pro) c.1309A>C (n.1309A>C) c.602A>C (p.Gln201Pro) c.1640A>C (p.Gln547Pro) c.1102-909A>C (n.1102-909A>C) c.992A>C (p.Gln331Pro) | |
| 3 | g.38909031T= | CA1358724443 | SCN11A | c.1265A= (p.Gln422=) c.1085A= (p.Gln362=) c.1309A= (n.1309A=) c.602A= (p.Gln201=) c.1640A= (p.Gln547=) c.1102-909A= (n.1102-909A=) c.992A= (p.Gln331=) | |
| 3 | g.38909032G>A | CA352167846 | SCN11A | c.1264C>T (p.Gln422Ter) c.1084C>T (p.Gln362Ter) c.1308C>T (n.1308C>T) c.601C>T (p.Gln201Ter) c.1639C>T (p.Gln547Ter) c.1102-910C>T (n.1102-910C>T) c.991C>T (p.Gln331Ter) | gnomAD v4 COSMIC |
| 3 | g.38909032G>C | CA352167847 | SCN11A | c.1264C>G (p.Gln422Glu) c.1084C>G (p.Gln362Glu) c.1308C>G (n.1308C>G) c.601C>G (p.Gln201Glu) c.1639C>G (p.Gln547Glu) c.1102-910C>G (n.1102-910C>G) c.991C>G (p.Gln331Glu) | |
| 3 | g.38909032G>T | CA352167848 | SCN11A | c.1264C>A (p.Gln422Lys) c.1084C>A (p.Gln362Lys) c.1308C>A (n.1308C>A) c.601C>A (p.Gln201Lys) c.1639C>A (p.Gln547Lys) c.1102-910C>A (n.1102-910C>A) c.991C>A (p.Gln331Lys) | |
| 3 | g.38909033A>C | CA352167849 | SCN11A | c.1263T>G (p.Phe421Leu) c.1083T>G (p.Phe361Leu) c.1307T>G (n.1307T>G) c.600T>G (p.Phe200Leu) c.1638T>G (p.Phe546Leu) c.1102-911T>G (n.1102-911T>G) c.990T>G (p.Phe330Leu) | |
| 3 | g.38909033A>G | CA433141423 | SCN11A | c.1263T>C (p.Phe421=) c.1083T>C (p.Phe361=) c.1307T>C (n.1307T>C) c.600T>C (p.Phe200=) c.1638T>C (p.Phe546=) c.1102-911T>C (n.1102-911T>C) c.990T>C (p.Phe330=) | |
| 3 | g.38909033A>T | CA352167850 | SCN11A | c.1263T>A (p.Phe421Leu) c.1083T>A (p.Phe361Leu) c.1307T>A (n.1307T>A) c.600T>A (p.Phe200Leu) c.1638T>A (p.Phe546Leu) c.1102-911T>A (n.1102-911T>A) c.990T>A (p.Phe330Leu) | |
| 3 | g.38909034A>C | CA352167851 | SCN11A | c.1262T>G (p.Phe421Cys) c.1082T>G (p.Phe361Cys) c.1306T>G (n.1306T>G) c.599T>G (p.Phe200Cys) c.1637T>G (p.Phe546Cys) c.1102-912T>G (n.1102-912T>G) c.989T>G (p.Phe330Cys) | |
| 3 | g.38909034A>G | CA352167852 | SCN11A | c.1262T>C (p.Phe421Ser) c.1082T>C (p.Phe361Ser) c.1306T>C (n.1306T>C) c.599T>C (p.Phe200Ser) c.1637T>C (p.Phe546Ser) c.1102-912T>C (n.1102-912T>C) c.989T>C (p.Phe330Ser) | |
| 3 | g.38909034A>T | CA352167853 | SCN11A | c.1262T>A (p.Phe421Tyr) c.1082T>A (p.Phe361Tyr) c.1306T>A (n.1306T>A) c.599T>A (p.Phe200Tyr) c.1637T>A (p.Phe546Tyr) c.1102-912T>A (n.1102-912T>A) c.989T>A (p.Phe330Tyr) | |
| 3 | g.38909035A>C | CA352167854 | SCN11A | c.1261T>G (p.Phe421Val) c.1081T>G (p.Phe361Val) c.1305T>G (n.1305T>G) c.598T>G (p.Phe200Val) c.1636T>G (p.Phe546Val) c.1102-913T>G (n.1102-913T>G) c.988T>G (p.Phe330Val) | |
| 3 | g.38909035A>G | CA352167855 | SCN11A | c.1261T>C (p.Phe421Leu) c.1081T>C (p.Phe361Leu) c.1305T>C (n.1305T>C) c.598T>C (p.Phe200Leu) c.1636T>C (p.Phe546Leu) c.1102-913T>C (n.1102-913T>C) c.988T>C (p.Phe330Leu) | |
| 3 | g.38909035A>T | CA352167856 | SCN11A | c.1261T>A (p.Phe421Ile) c.1081T>A (p.Phe361Ile) c.1305T>A (n.1305T>A) c.598T>A (p.Phe200Ile) c.1636T>A (p.Phe546Ile) c.1102-913T>A (n.1102-913T>A) c.988T>A (p.Phe330Ile) | |
| 3 | g.38909036C>A | CA352167859 | SCN11A | c.1260G>T (p.Met420Ile) c.1080G>T (p.Met360Ile) c.1304G>T (n.1304G>T) c.597G>T (p.Met199Ile) c.1635G>T (p.Met545Ile) c.1102-914G>T (n.1102-914G>T) c.987G>T (p.Met329Ile) | ClinVar dbSNP |
| 3 | g.38909036C= | CA1358724444 | SCN11A | c.1260G= (p.Met420=) c.1080G= (p.Met360=) c.1304G= (n.1304G=) c.597G= (p.Met199=) c.1635G= (p.Met545=) c.1102-914G= (n.1102-914G=) c.987G= (p.Met329=) | |
| 3 | g.38909036C>G | CA352167858 | SCN11A | c.1260G>C (p.Met420Ile) c.1080G>C (p.Met360Ile) c.1304G>C (n.1304G>C) c.597G>C (p.Met199Ile) c.1635G>C (p.Met545Ile) c.1102-914G>C (n.1102-914G>C) c.987G>C (p.Met329Ile) | |
| 3 | g.38909036C>T | CA352167857 | SCN11A | c.1260G>A (p.Met420Ile) c.1080G>A (p.Met360Ile) c.1304G>A (n.1304G>A) c.597G>A (p.Met199Ile) c.1635G>A (p.Met545Ile) c.1102-914G>A (n.1102-914G>A) c.987G>A (p.Met329Ile) | dbSNP |
| 3 | g.38909037A= | CA1358724445 | SCN11A | c.1259T= (p.Met420=) c.1079T= (p.Met360=) c.1303T= (n.1303T=) c.596T= (p.Met199=) c.1634T= (p.Met545=) c.1102-915T= (n.1102-915T=) c.986T= (p.Met329=) | |
| 3 | g.38909037A>C | CA352167860 | SCN11A | c.1259T>G (p.Met420Arg) c.1079T>G (p.Met360Arg) c.1303T>G (n.1303T>G) c.596T>G (p.Met199Arg) c.1634T>G (p.Met545Arg) c.1102-915T>G (n.1102-915T>G) c.986T>G (p.Met329Arg) | dbSNP |
| 3 | g.38909037A>G | CA352167861 | SCN11A | c.1259T>C (p.Met420Thr) c.1079T>C (p.Met360Thr) c.1303T>C (n.1303T>C) c.596T>C (p.Met199Thr) c.1634T>C (p.Met545Thr) c.1102-915T>C (n.1102-915T>C) c.986T>C (p.Met329Thr) | |
| 3 | g.38909037A>T | CA352167862 | SCN11A | c.1259T>A (p.Met420Lys) c.1079T>A (p.Met360Lys) c.1303T>A (n.1303T>A) c.596T>A (p.Met199Lys) c.1634T>A (p.Met545Lys) c.1102-915T>A (n.1102-915T>A) c.986T>A (p.Met329Lys) | ClinVar |
| 3 | g.38909038T>A | CA352167863 | SCN11A | c.1258A>T (p.Met420Leu) c.1078A>T (p.Met360Leu) c.1302A>T (n.1302A>T) c.595A>T (p.Met199Leu) c.1633A>T (p.Met545Leu) c.1102-916A>T (n.1102-916A>T) c.985A>T (p.Met329Leu) | |
| 3 | g.38909038T>C | CA352167864 | SCN11A | c.1258A>G (p.Met420Val) c.1078A>G (p.Met360Val) c.1302A>G (n.1302A>G) c.595A>G (p.Met199Val) c.1633A>G (p.Met545Val) c.1102-916A>G (n.1102-916A>G) c.985A>G (p.Met329Val) | |
| 3 | g.38909038T>G | CA352167865 | SCN11A | c.1258A>C (p.Met420Leu) c.1078A>C (p.Met360Leu) c.1302A>C (n.1302A>C) c.595A>C (p.Met199Leu) c.1633A>C (p.Met545Leu) c.1102-916A>C (n.1102-916A>C) c.985A>C (p.Met329Leu) | |
| 3 | g.38909038_38909039delinsTC | CA1358724446 | SCN11A | c.1257_1258delinsGA (p.Lys419=) c.1077_1078delinsGA (p.Lys359=) c.1301_1302delinsGA (n.1301_1302delinsGA) c.594_595delinsGA (p.Lys198=) c.1632_1633delinsGA (p.Lys544=) c.1102-917_1102-916delinsGA (n.1102-917_1102-916delinsGA) c.984_985delinsGA (p.Lys328=) | |
| 3 | g.38909039del | CA542616123 | SCN11A | c.1257del (p.Met420CysfsTer9) c.1077del (p.Met360CysfsTer9) c.1301del (n.1301del) c.594del (p.Met199CysfsTer9) c.1632del (p.Met545CysfsTer9) c.1102-917del (n.1102-917del) c.984del (p.Met329CysfsTer9) | dbSNP gnomAD v2 |
| 3 | g.38909039C>A | CA2322365 | SCN11A | c.1257G>T (p.Lys419Asn) c.1077G>T (p.Lys359Asn) c.1301G>T (n.1301G>T) c.594G>T (p.Lys198Asn) c.1632G>T (p.Lys544Asn) c.1102-917G>T (n.1102-917G>T) c.984G>T (p.Lys328Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.38909039C= | CA1358724447 | SCN11A | c.1257G= (p.Lys419=) c.1077G= (p.Lys359=) c.1301G= (n.1301G=) c.594G= (p.Lys198=) c.1632G= (p.Lys544=) c.1102-917G= (n.1102-917G=) c.984G= (p.Lys328=) | |
| 3 | g.38909039C>G | CA352167866 | SCN11A | c.1257G>C (p.Lys419Asn) c.1077G>C (p.Lys359Asn) c.1301G>C (n.1301G>C) c.594G>C (p.Lys198Asn) c.1632G>C (p.Lys544Asn) c.1102-917G>C (n.1102-917G>C) c.984G>C (p.Lys328Asn) | |
| 3 | g.38909039C>T | CA433141426 | SCN11A | c.1257G>A (p.Lys419=) c.1077G>A (p.Lys359=) c.1301G>A (n.1301G>A) c.594G>A (p.Lys198=) c.1632G>A (p.Lys544=) c.1102-917G>A (n.1102-917G>A) c.984G>A (p.Lys328=) | |
| 3 | g.38909040T>A | CA352167867 | SCN11A | c.1256A>T (p.Lys419Met) c.1076A>T (p.Lys359Met) c.1300A>T (n.1300A>T) c.593A>T (p.Lys198Met) c.1631A>T (p.Lys544Met) c.1102-918A>T (n.1102-918A>T) c.983A>T (p.Lys328Met) | |
| 3 | g.38909040T>C | CA352167868 | SCN11A | c.1256A>G (p.Lys419Arg) c.1076A>G (p.Lys359Arg) c.1300A>G (n.1300A>G) c.593A>G (p.Lys198Arg) c.1631A>G (p.Lys544Arg) c.1102-918A>G (n.1102-918A>G) c.983A>G (p.Lys328Arg) | |
| 3 | g.38909040T>G | CA2322366 | SCN11A | c.1256A>C (p.Lys419Thr) c.1076A>C (p.Lys359Thr) c.1300A>C (n.1300A>C) c.593A>C (p.Lys198Thr) c.1631A>C (p.Lys544Thr) c.1102-918A>C (n.1102-918A>C) c.983A>C (p.Lys328Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38909040T= | CA1358724448 | SCN11A | c.1256A= (p.Lys419=) c.1076A= (p.Lys359=) c.1300A= (n.1300A=) c.593A= (p.Lys198=) c.1631A= (p.Lys544=) c.1102-918A= (n.1102-918A=) c.983A= (p.Lys328=) | |
| 3 | g.38909043del | CA2573137000 | SCN11A | c.1256del (p.Lys419ArgfsTer10) c.1076del (p.Lys359ArgfsTer10) c.1300del (n.1300del) c.593del (p.Lys198ArgfsTer10) c.1631del (p.Lys544ArgfsTer10) c.1102-918del (n.1102-918del) c.983del (p.Lys328ArgfsTer10) | ClinVar dbSNP |
| 3 | g.38909041T>A | CA352167871 | SCN11A | c.1255A>T (p.Lys419Ter) c.1075A>T (p.Lys359Ter) c.1299A>T (n.1299A>T) c.592A>T (p.Lys198Ter) c.1630A>T (p.Lys544Ter) c.1102-919A>T (n.1102-919A>T) c.982A>T (p.Lys328Ter) | dbSNP |
| 3 | g.38909041T>C | CA352167870 | SCN11A | c.1255A>G (p.Lys419Glu) c.1075A>G (p.Lys359Glu) c.1299A>G (n.1299A>G) c.592A>G (p.Lys198Glu) c.1630A>G (p.Lys544Glu) c.1102-919A>G (n.1102-919A>G) c.982A>G (p.Lys328Glu) | gnomAD v4 |
| 3 | g.38909041T>G | CA352167869 | SCN11A | c.1255A>C (p.Lys419Gln) c.1075A>C (p.Lys359Gln) c.1299A>C (n.1299A>C) c.592A>C (p.Lys198Gln) c.1630A>C (p.Lys544Gln) c.1102-919A>C (n.1102-919A>C) c.982A>C (p.Lys328Gln) | gnomAD v4 |
| 3 | g.38909041T= | CA1358724450 | SCN11A | c.1255A= (p.Lys419=) c.1075A= (p.Lys359=) c.1299A= (n.1299A=) c.592A= (p.Lys198=) c.1630A= (p.Lys544=) c.1102-919A= (n.1102-919A=) c.982A= (p.Lys328=) | |
| 3 | g.38909041_38909042insCT | CA1358724449 | SCN11A | c.1255_1256insGA (p.Lys419ArgfsTer11) c.1075_1076insGA (p.Lys359ArgfsTer11) c.1299_1300insGA (n.1299_1300insGA) c.592_593insGA (p.Lys198ArgfsTer11) c.1630_1631insGA (p.Lys544ArgfsTer11) c.1102-919_1102-918insGA (n.1102-919_1102-918insGA) c.982_983insGA (p.Lys328ArgfsTer11) | dbSNP |
| 3 | g.38909041_38909042insC | CA2322367 | SCN11A | c.1254_1255insG (p.Lys419GlufsTer23) c.1074_1075insG (p.Lys359GlufsTer23) c.1298_1299insG (n.1298_1299insG) c.591_592insG (p.Lys198GlufsTer23) c.1629_1630insG (p.Lys544GlufsTer23) c.1102-920_1102-919insG (n.1102-920_1102-919insG) c.981_982insG (p.Lys328GlufsTer23) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38909042T>A | CA352167872 | SCN11A | c.1254A>T (p.Glu418Asp) c.1074A>T (p.Glu358Asp) c.1298A>T (n.1298A>T) c.591A>T (p.Glu197Asp) c.1629A>T (p.Glu543Asp) c.1102-920A>T (n.1102-920A>T) c.981A>T (p.Glu327Asp) | dbSNP |
| 3 | g.38909042T>C | CA433141428 | SCN11A | c.1254A>G (p.Glu418=) c.1074A>G (p.Glu358=) c.1298A>G (n.1298A>G) c.591A>G (p.Glu197=) c.1629A>G (p.Glu543=) c.1102-920A>G (n.1102-920A>G) c.981A>G (p.Glu327=) | |
| 3 | g.38909042T>G | CA352167873 | SCN11A | c.1254A>C (p.Glu418Asp) c.1074A>C (p.Glu358Asp) c.1298A>C (n.1298A>C) c.591A>C (p.Glu197Asp) c.1629A>C (p.Glu543Asp) c.1102-920A>C (n.1102-920A>C) c.981A>C (p.Glu327Asp) | |
| 3 | g.38909042T= | CA1358724451 | SCN11A | c.1254A= (p.Glu418=) c.1074A= (p.Glu358=) c.1298A= (n.1298A=) c.591A= (p.Glu197=) c.1629A= (p.Glu543=) c.1102-920A= (n.1102-920A=) c.981A= (p.Glu327=) | |
| 3 | g.38909042_38909043insA | CA2322368 | SCN11A | c.1253_1254insT (p.Glu418AspfsTer24) c.1073_1074insT (p.Glu358AspfsTer24) c.1297_1298insT (n.1297_1298insT) c.590_591insT (p.Glu197AspfsTer24) c.1628_1629insT (p.Glu543AspfsTer24) c.1102-921_1102-920insT (n.1102-921_1102-920insT) c.980_981insT (p.Glu327AspfsTer24) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38909043T>A | CA352167874 | SCN11A | c.1253A>T (p.Glu418Val) c.1073A>T (p.Glu358Val) c.1297A>T (n.1297A>T) c.590A>T (p.Glu197Val) c.1628A>T (p.Glu543Val) c.1102-921A>T (n.1102-921A>T) c.980A>T (p.Glu327Val) | |
| 3 | g.38909043T>C | CA352167875 | SCN11A | c.1253A>G (p.Glu418Gly) c.1073A>G (p.Glu358Gly) c.1297A>G (n.1297A>G) c.590A>G (p.Glu197Gly) c.1628A>G (p.Glu543Gly) c.1102-921A>G (n.1102-921A>G) c.980A>G (p.Glu327Gly) | |
| 3 | g.38909043T>G | CA352167876 | SCN11A | c.1253A>C (p.Glu418Ala) c.1073A>C (p.Glu358Ala) c.1297A>C (n.1297A>C) c.590A>C (p.Glu197Ala) c.1628A>C (p.Glu543Ala) c.1102-921A>C (n.1102-921A>C) c.980A>C (p.Glu327Ala) | |
| 3 | g.38909044C>A | CA352167877 | SCN11A | c.1252G>T (p.Glu418Ter) c.1072G>T (p.Glu358Ter) c.1296G>T (n.1296G>T) c.589G>T (p.Glu197Ter) c.1627G>T (p.Glu543Ter) c.1102-922G>T (n.1102-922G>T) c.979G>T (p.Glu327Ter) | dbSNP |
| 3 | g.38909044C= | CA1358724452 | SCN11A | c.1252G= (p.Glu418=) c.1072G= (p.Glu358=) c.1296G= (n.1296G=) c.589G= (p.Glu197=) c.1627G= (p.Glu543=) c.1102-922G= (n.1102-922G=) c.979G= (p.Glu327=) | |
| 3 | g.38909044C>G | CA352167878 | SCN11A | c.1252G>C (p.Glu418Gln) c.1072G>C (p.Glu358Gln) c.1296G>C (n.1296G>C) c.589G>C (p.Glu197Gln) c.1627G>C (p.Glu543Gln) c.1102-922G>C (n.1102-922G>C) c.979G>C (p.Glu327Gln) | |
| 3 | g.38909044C>T | CA352167879 | SCN11A | c.1252G>A (p.Glu418Lys) c.1072G>A (p.Glu358Lys) c.1296G>A (n.1296G>A) c.589G>A (p.Glu197Lys) c.1627G>A (p.Glu543Lys) c.1102-922G>A (n.1102-922G>A) c.979G>A (p.Glu327Lys) | COSMIC |
| 3 | g.38909045C>A | CA352167880 | SCN11A | c.1251G>T (p.Lys417Asn) c.1071G>T (p.Lys357Asn) c.1295G>T (n.1295G>T) c.588G>T (p.Lys196Asn) c.1626G>T (p.Lys542Asn) c.1102-923G>T (n.1102-923G>T) c.978G>T (p.Lys326Asn) | |
| 3 | g.38909045C>G | CA352167881 | SCN11A | c.1251G>C (p.Lys417Asn) c.1071G>C (p.Lys357Asn) c.1295G>C (n.1295G>C) c.588G>C (p.Lys196Asn) c.1626G>C (p.Lys542Asn) c.1102-923G>C (n.1102-923G>C) c.978G>C (p.Lys326Asn) | |
| 3 | g.38909045C>T | CA433141430 | SCN11A | c.1251G>A (p.Lys417=) c.1071G>A (p.Lys357=) c.1295G>A (n.1295G>A) c.588G>A (p.Lys196=) c.1626G>A (p.Lys542=) c.1102-923G>A (n.1102-923G>A) c.978G>A (p.Lys326=) | |
| 3 | g.38909045_38909046delinsCT | CA1358724453 | SCN11A | c.1250_1251delinsAG (p.Lys417=) c.1070_1071delinsAG (p.Lys357=) c.1294_1295delinsAG (n.1294_1295delinsAG) c.587_588delinsAG (p.Lys196=) c.1625_1626delinsAG (p.Lys542=) c.1102-924_1102-923delinsAG (n.1102-924_1102-923delinsAG) c.977_978delinsAG (p.Lys326=) | |
| 3 | g.38909046T>A | CA352167883 | SCN11A | c.1250A>T (p.Lys417Met) c.1070A>T (p.Lys357Met) c.1294A>T (n.1294A>T) c.587A>T (p.Lys196Met) c.1625A>T (p.Lys542Met) c.1102-924A>T (n.1102-924A>T) c.977A>T (p.Lys326Met) | |
| 3 | g.38909046T>C | CA352167884 | SCN11A | c.1250A>G (p.Lys417Arg) c.1070A>G (p.Lys357Arg) c.1294A>G (n.1294A>G) c.587A>G (p.Lys196Arg) c.1625A>G (p.Lys542Arg) c.1102-924A>G (n.1102-924A>G) c.977A>G (p.Lys326Arg) | |
| 3 | g.38909046T>G | CA352167882 | SCN11A | c.1250A>C (p.Lys417Thr) c.1070A>C (p.Lys357Thr) c.1294A>C (n.1294A>C) c.587A>C (p.Lys196Thr) c.1625A>C (p.Lys542Thr) c.1102-924A>C (n.1102-924A>C) c.977A>C (p.Lys326Thr) | |
| 3 | g.38909046T= | CA1358724454 | SCN11A | c.1250A= (p.Lys417=) c.1070A= (p.Lys357=) c.1294A= (n.1294A=) c.587A= (p.Lys196=) c.1625A= (p.Lys542=) c.1102-924A= (n.1102-924A=) c.977A= (p.Lys326=) | |
| 3 | g.38909047del | CA2322369 | SCN11A | c.1250del (p.Lys417ArgfsTer12) c.1070del (p.Lys357ArgfsTer12) c.1294del (n.1294del) c.587del (p.Lys196ArgfsTer12) c.1625del (p.Lys542ArgfsTer12) c.1102-924del (n.1102-924del) c.977del (p.Lys326ArgfsTer12) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38909046_38909047insGAAACA | CA1358724457 | SCN11A | c.1249_1250insTGTTTC (p.Lys417delinsMetPheGln) c.1069_1070insTGTTTC (p.Lys357delinsMetPheGln) c.1293_1294insTGTTTC (n.1293_1294insTGTTTC) c.586_587insTGTTTC (p.Lys196delinsMetPheGln) c.1624_1625insTGTTTC (p.Lys542delinsMetPheGln) c.1102-925_1102-924insTGTTTC (n.1102-925_1102-924insTGTTTC) c.976_977insTGTTTC (p.Lys326delinsMetPheGln) | dbSNP |
| 3 | g.38909047T>A | CA352167886 | SCN11A | c.1249A>T (p.Lys417Ter) c.1069A>T (p.Lys357Ter) c.1293A>T (n.1293A>T) c.586A>T (p.Lys196Ter) c.1624A>T (p.Lys542Ter) c.1102-925A>T (n.1102-925A>T) c.976A>T (p.Lys326Ter) | |
| 3 | g.38909047T>C | CA2322370 | SCN11A | c.1249A>G (p.Lys417Glu) c.1069A>G (p.Lys357Glu) c.1293A>G (n.1293A>G) c.586A>G (p.Lys196Glu) c.1624A>G (p.Lys542Glu) c.1102-925A>G (n.1102-925A>G) c.976A>G (p.Lys326Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38909047T>G | CA352167885 | SCN11A | c.1249A>C (p.Lys417Gln) c.1069A>C (p.Lys357Gln) c.1293A>C (n.1293A>C) c.586A>C (p.Lys196Gln) c.1624A>C (p.Lys542Gln) c.1102-925A>C (n.1102-925A>C) c.976A>C (p.Lys326Gln) | |
| 3 | g.38909047T= | CA1358724456 | SCN11A | c.1249A= (p.Lys417=) c.1069A= (p.Lys357=) c.1293A= (n.1293A=) c.586A= (p.Lys196=) c.1624A= (p.Lys542=) c.1102-925A= (n.1102-925A=) c.976A= (p.Lys326=) | |
| 3 | g.38909047_38909048delinsTG | CA1358724455 | SCN11A | c.1248_1249delinsCA (p.Ala416=) c.1068_1069delinsCA (p.Ala356=) c.1292_1293delinsCA (n.1292_1293delinsCA) c.585_586delinsCA (p.Ala195=) c.1623_1624delinsCA (p.Ala541=) c.1102-926_1102-925delinsCA (n.1102-926_1102-925delinsCA) c.975_976delinsCA (p.Ala325=) | |
| 3 | g.38909048G>A | CA433141432 | SCN11A | c.1248C>T (p.Ala416=) c.1068C>T (p.Ala356=) c.1292C>T (n.1292C>T) c.585C>T (p.Ala195=) c.1623C>T (p.Ala541=) c.1102-926C>T (n.1102-926C>T) c.975C>T (p.Ala325=) | |
| 3 | g.38909048G>C | CA433141433 | SCN11A | c.1248C>G (p.Ala416=) c.1068C>G (p.Ala356=) c.1292C>G (n.1292C>G) c.585C>G (p.Ala195=) c.1623C>G (p.Ala541=) c.1102-926C>G (n.1102-926C>G) c.975C>G (p.Ala325=) | |
| 3 | g.38909048G= | CA1358724459 | SCN11A | c.1248C= (p.Ala416=) c.1068C= (p.Ala356=) c.1292C= (n.1292C=) c.585C= (p.Ala195=) c.1623C= (p.Ala541=) c.1102-926C= (n.1102-926C=) c.975C= (p.Ala325=) | |
| 3 | g.38909048G>T | CA433141434 | SCN11A | c.1248C>A (p.Ala416=) c.1068C>A (p.Ala356=) c.1292C>A (n.1292C>A) c.585C>A (p.Ala195=) c.1623C>A (p.Ala541=) c.1102-926C>A (n.1102-926C>A) c.975C>A (p.Ala325=) | |
| 3 | g.38909049del | CA1358724458 | SCN11A | c.1248del (p.Lys417ArgfsTer12) c.1068del (p.Lys357ArgfsTer12) c.1292del (n.1292del) c.585del (p.Lys196ArgfsTer12) c.1623del (p.Lys542ArgfsTer12) c.1102-926del (n.1102-926del) c.975del (p.Lys326ArgfsTer12) | dbSNP |
| 3 | g.38909048_38909049insAAACAT | CA2322371 | SCN11A | c.1247_1248insATGTTT (p.Ala416_Lys417insCysPhe) c.1067_1068insATGTTT (p.Ala356_Lys357insCysPhe) c.1291_1292insATGTTT (n.1291_1292insATGTTT) c.584_585insATGTTT (p.Ala195_Lys196insCysPhe) c.1622_1623insATGTTT (p.Ala541_Lys542insCysPhe) c.1102-927_1102-926insATGTTT (n.1102-927_1102-926insATGTTT) c.974_975insATGTTT (p.Ala325_Lys326insCysPhe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38909049G>A | CA2322372 | SCN11A | c.1247C>T (p.Ala416Val) c.1067C>T (p.Ala356Val) c.1291C>T (n.1291C>T) c.584C>T (p.Ala195Val) c.1622C>T (p.Ala541Val) c.1102-927C>T (n.1102-927C>T) c.974C>T (p.Ala325Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38909049G>C | CA352167887 | SCN11A | c.1247C>G (p.Ala416Gly) c.1067C>G (p.Ala356Gly) c.1291C>G (n.1291C>G) c.584C>G (p.Ala195Gly) c.1622C>G (p.Ala541Gly) c.1102-927C>G (n.1102-927C>G) c.974C>G (p.Ala325Gly) | |
| 3 | g.38909049G= | CA1358724460 | SCN11A | c.1247C= (p.Ala416=) c.1067C= (p.Ala356=) c.1291C= (n.1291C=) c.584C= (p.Ala195=) c.1622C= (p.Ala541=) c.1102-927C= (n.1102-927C=) c.974C= (p.Ala325=) | |
| 3 | g.38909049G>T | CA352167888 | SCN11A | c.1247C>A (p.Ala416Asp) c.1067C>A (p.Ala356Asp) c.1291C>A (n.1291C>A) c.584C>A (p.Ala195Asp) c.1622C>A (p.Ala541Asp) c.1102-927C>A (n.1102-927C>A) c.974C>A (p.Ala325Asp) | gnomAD v4 |
| 3 | g.38909050C>A | CA352167889 | SCN11A | c.1246G>T (p.Ala416Ser) c.1066G>T (p.Ala356Ser) c.1290G>T (n.1290G>T) c.583G>T (p.Ala195Ser) c.1621G>T (p.Ala541Ser) c.1102-928G>T (n.1102-928G>T) c.973G>T (p.Ala325Ser) | |
| 3 | g.38909050C>G | CA352167890 | SCN11A | c.1246G>C (p.Ala416Pro) c.1066G>C (p.Ala356Pro) c.1290G>C (n.1290G>C) c.583G>C (p.Ala195Pro) c.1621G>C (p.Ala541Pro) c.1102-928G>C (n.1102-928G>C) c.973G>C (p.Ala325Pro) | |
| 3 | g.38909050C>T | CA352167891 | SCN11A | c.1246G>A (p.Ala416Thr) c.1066G>A (p.Ala356Thr) c.1290G>A (n.1290G>A) c.583G>A (p.Ala195Thr) c.1621G>A (p.Ala541Thr) c.1102-928G>A (n.1102-928G>A) c.973G>A (p.Ala325Thr) | |
| 3 | g.38909051C>A | CA352167892 | SCN11A | c.1245G>T (p.Glu415Asp) c.1065G>T (p.Glu355Asp) c.1289G>T (n.1289G>T) c.582G>T (p.Glu194Asp) c.1620G>T (p.Glu540Asp) c.1102-929G>T (n.1102-929G>T) c.972G>T (p.Glu324Asp) | |
| 3 | g.38909051C>G | CA352167893 | SCN11A | c.1245G>C (p.Glu415Asp) c.1065G>C (p.Glu355Asp) c.1289G>C (n.1289G>C) c.582G>C (p.Glu194Asp) c.1620G>C (p.Glu540Asp) c.1102-929G>C (n.1102-929G>C) c.972G>C (p.Glu324Asp) | |
| 3 | g.38909051C>T | CA433141438 | SCN11A | c.1245G>A (p.Glu415=) c.1065G>A (p.Glu355=) c.1289G>A (n.1289G>A) c.582G>A (p.Glu194=) c.1620G>A (p.Glu540=) c.1102-929G>A (n.1102-929G>A) c.972G>A (p.Glu324=) | |
| 3 | g.38909052T>A | CA352167896 | SCN11A | c.1244A>T (p.Glu415Val) c.1064A>T (p.Glu355Val) c.1288A>T (n.1288A>T) c.581A>T (p.Glu194Val) c.1619A>T (p.Glu540Val) c.1102-930A>T (n.1102-930A>T) c.971A>T (p.Glu324Val) | dbSNP |
| 3 | g.38909052T>C | CA352167895 | SCN11A | c.1244A>G (p.Glu415Gly) c.1064A>G (p.Glu355Gly) c.1288A>G (n.1288A>G) c.581A>G (p.Glu194Gly) c.1619A>G (p.Glu540Gly) c.1102-930A>G (n.1102-930A>G) c.971A>G (p.Glu324Gly) | |
| 3 | g.38909052T>G | CA352167894 | SCN11A | c.1244A>C (p.Glu415Ala) c.1064A>C (p.Glu355Ala) c.1288A>C (n.1288A>C) c.581A>C (p.Glu194Ala) c.1619A>C (p.Glu540Ala) c.1102-930A>C (n.1102-930A>C) c.971A>C (p.Glu324Ala) | |
| 3 | g.38909052T= | CA1358724461 | SCN11A | c.1244A= (p.Glu415=) c.1064A= (p.Glu355=) c.1288A= (n.1288A=) c.581A= (p.Glu194=) c.1619A= (p.Glu540=) c.1102-930A= (n.1102-930A=) c.971A= (p.Glu324=) | |
| 3 | g.38909053C>A | CA352167897 | SCN11A | c.1243G>T (p.Glu415Ter) c.1063G>T (p.Glu355Ter) c.1287G>T (n.1287G>T) c.580G>T (p.Glu194Ter) c.1618G>T (p.Glu540Ter) c.1102-931G>T (n.1102-931G>T) c.970G>T (p.Glu324Ter) | dbSNP |
| 3 | g.38909053C= | CA1358724462 | SCN11A | c.1243G= (p.Glu415=) c.1063G= (p.Glu355=) c.1287G= (n.1287G=) c.580G= (p.Glu194=) c.1618G= (p.Glu540=) c.1102-931G= (n.1102-931G=) c.970G= (p.Glu324=) | |
| 3 | g.38909053C>G | CA352167898 | SCN11A | c.1243G>C (p.Glu415Gln) c.1063G>C (p.Glu355Gln) c.1287G>C (n.1287G>C) c.580G>C (p.Glu194Gln) c.1618G>C (p.Glu540Gln) c.1102-931G>C (n.1102-931G>C) c.970G>C (p.Glu324Gln) | |
| 3 | g.38909053C>T | CA352167899 | SCN11A | c.1243G>A (p.Glu415Lys) c.1063G>A (p.Glu355Lys) c.1287G>A (n.1287G>A) c.580G>A (p.Glu194Lys) c.1618G>A (p.Glu540Lys) c.1102-931G>A (n.1102-931G>A) c.970G>A (p.Glu324Lys) | |
| 3 | g.38909054T>A | CA433141439 | SCN11A | c.1242A>T (p.Ile414=) c.1062A>T (p.Ile354=) c.1286A>T (n.1286A>T) c.579A>T (p.Ile193=) c.1617A>T (p.Ile539=) c.1102-932A>T (n.1102-932A>T) c.969A>T (p.Ile323=) | |
| 3 | g.38909054T>C | CA352167900 | SCN11A | c.1242A>G (p.Ile414Met) c.1062A>G (p.Ile354Met) c.1286A>G (n.1286A>G) c.579A>G (p.Ile193Met) c.1617A>G (p.Ile539Met) c.1102-932A>G (n.1102-932A>G) c.969A>G (p.Ile323Met) | |
| 3 | g.38909054T>G | CA433141440 | SCN11A | c.1242A>C (p.Ile414=) c.1062A>C (p.Ile354=) c.1286A>C (n.1286A>C) c.579A>C (p.Ile193=) c.1617A>C (p.Ile539=) c.1102-932A>C (n.1102-932A>C) c.969A>C (p.Ile323=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38909054T= | CA1358724463 | SCN11A | c.1242A= (p.Ile414=) c.1062A= (p.Ile354=) c.1286A= (n.1286A=) c.579A= (p.Ile193=) c.1617A= (p.Ile539=) c.1102-932A= (n.1102-932A=) c.969A= (p.Ile323=) | |
| 3 | g.38909055A>C | CA352167901 | SCN11A | c.1241T>G (p.Ile414Arg) c.1061T>G (p.Ile354Arg) c.1285T>G (n.1285T>G) c.578T>G (p.Ile193Arg) c.1616T>G (p.Ile539Arg) c.1102-933T>G (n.1102-933T>G) c.968T>G (p.Ile323Arg) | |
| 3 | g.38909055A>G | CA352167902 | SCN11A | c.1241T>C (p.Ile414Thr) c.1061T>C (p.Ile354Thr) c.1285T>C (n.1285T>C) c.578T>C (p.Ile193Thr) c.1616T>C (p.Ile539Thr) c.1102-933T>C (n.1102-933T>C) c.968T>C (p.Ile323Thr) | |
| 3 | g.38909055A>T | CA352167903 | SCN11A | c.1241T>A (p.Ile414Lys) c.1061T>A (p.Ile354Lys) c.1285T>A (n.1285T>A) c.578T>A (p.Ile193Lys) c.1616T>A (p.Ile539Lys) c.1102-933T>A (n.1102-933T>A) c.968T>A (p.Ile323Lys) | |
| 3 | g.38909056T>A | CA352167904 | SCN11A | c.1240A>T (p.Ile414Leu) c.1060A>T (p.Ile354Leu) c.1284A>T (n.1284A>T) c.577A>T (p.Ile193Leu) c.1615A>T (p.Ile539Leu) c.1102-934A>T (n.1102-934A>T) c.967A>T (p.Ile323Leu) | COSMIC |
| 3 | g.38909056T>C | CA352167905 | SCN11A | c.1240A>G (p.Ile414Val) c.1060A>G (p.Ile354Val) c.1284A>G (n.1284A>G) c.577A>G (p.Ile193Val) c.1615A>G (p.Ile539Val) c.1102-934A>G (n.1102-934A>G) c.967A>G (p.Ile323Val) | |
| 3 | g.38909056T>G | CA352167906 | SCN11A | c.1240A>C (p.Ile414Leu) c.1060A>C (p.Ile354Leu) c.1284A>C (n.1284A>C) c.577A>C (p.Ile193Leu) c.1615A>C (p.Ile539Leu) c.1102-934A>C (n.1102-934A>C) c.967A>C (p.Ile323Leu) | |
| 3 | g.38909057C>A | CA352167907 | SCN11A | c.1239G>T (p.Glu413Asp) c.1059G>T (p.Glu353Asp) c.1283G>T (n.1283G>T) c.576G>T (p.Glu192Asp) c.1614G>T (p.Glu538Asp) c.1102-935G>T (n.1102-935G>T) c.966G>T (p.Glu322Asp) | |
| 3 | g.38909057C= | CA1358724464 | SCN11A | c.1239G= (p.Glu413=) c.1059G= (p.Glu353=) c.1283G= (n.1283G=) c.576G= (p.Glu192=) c.1614G= (p.Glu538=) c.1102-935G= (n.1102-935G=) c.966G= (p.Glu322=) | |
| 3 | g.38909057C>G | CA352167908 | SCN11A | c.1239G>C (p.Glu413Asp) c.1059G>C (p.Glu353Asp) c.1283G>C (n.1283G>C) c.576G>C (p.Glu192Asp) c.1614G>C (p.Glu538Asp) c.1102-935G>C (n.1102-935G>C) c.966G>C (p.Glu322Asp) | |
| 3 | g.38909057C>T | CA433141444 | SCN11A | c.1239G>A (p.Glu413=) c.1059G>A (p.Glu353=) c.1283G>A (n.1283G>A) c.576G>A (p.Glu192=) c.1614G>A (p.Glu538=) c.1102-935G>A (n.1102-935G>A) c.966G>A (p.Glu322=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.38909058T>A | CA352167910 | SCN11A | c.1238A>T (p.Glu413Val) c.1058A>T (p.Glu353Val) c.1282A>T (n.1282A>T) c.575A>T (p.Glu192Val) c.1613A>T (p.Glu538Val) c.1102-936A>T (n.1102-936A>T) c.965A>T (p.Glu322Val) | |
| 3 | g.38909058T>C | CA352167911 | SCN11A | c.1238A>G (p.Glu413Gly) c.1058A>G (p.Glu353Gly) c.1282A>G (n.1282A>G) c.575A>G (p.Glu192Gly) c.1613A>G (p.Glu538Gly) c.1102-936A>G (n.1102-936A>G) c.965A>G (p.Glu322Gly) | |
| 3 | g.38909058T>G | CA352167909 | SCN11A | c.1238A>C (p.Glu413Ala) c.1058A>C (p.Glu353Ala) c.1282A>C (n.1282A>C) c.575A>C (p.Glu192Ala) c.1613A>C (p.Glu538Ala) c.1102-936A>C (n.1102-936A>C) c.965A>C (p.Glu322Ala) | |
| 3 | g.38909059C>A | CA352167912 | SCN11A | c.1237G>T (p.Glu413Ter) c.1057G>T (p.Glu353Ter) c.1281G>T (n.1281G>T) c.574G>T (p.Glu192Ter) c.1612G>T (p.Glu538Ter) c.1102-937G>T (n.1102-937G>T) c.964G>T (p.Glu322Ter) | dbSNP |
| 3 | g.38909059C= | CA1358724465 | SCN11A | c.1237G= (p.Glu413=) c.1057G= (p.Glu353=) c.1281G= (n.1281G=) c.574G= (p.Glu192=) c.1612G= (p.Glu538=) c.1102-937G= (n.1102-937G=) c.964G= (p.Glu322=) | |
| 3 | g.38909059C>G | CA352167913 | SCN11A | c.1237G>C (p.Glu413Gln) c.1057G>C (p.Glu353Gln) c.1281G>C (n.1281G>C) c.574G>C (p.Glu192Gln) c.1612G>C (p.Glu538Gln) c.1102-937G>C (n.1102-937G>C) c.964G>C (p.Glu322Gln) | |
| 3 | g.38909059C>T | CA352167914 | SCN11A | c.1237G>A (p.Glu413Lys) c.1057G>A (p.Glu353Lys) c.1281G>A (n.1281G>A) c.574G>A (p.Glu192Lys) c.1612G>A (p.Glu538Lys) c.1102-937G>A (n.1102-937G>A) c.964G>A (p.Glu322Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.38909060T>A | CA433141446 | SCN11A | c.1236A>T (p.Ala412=) c.1056A>T (p.Ala352=) c.1280A>T (n.1280A>T) c.573A>T (p.Ala191=) c.1611A>T (p.Ala537=) c.1102-938A>T (n.1102-938A>T) c.963A>T (p.Ala321=) | |
| 3 | g.38909060T>C | CA433141447 | SCN11A | c.1236A>G (p.Ala412=) c.1056A>G (p.Ala352=) c.1280A>G (n.1280A>G) c.573A>G (p.Ala191=) c.1611A>G (p.Ala537=) c.1102-938A>G (n.1102-938A>G) c.963A>G (p.Ala321=) | |
| 3 | g.38909060T>G | CA433141448 | SCN11A | c.1236A>C (p.Ala412=) c.1056A>C (p.Ala352=) c.1280A>C (n.1280A>C) c.573A>C (p.Ala191=) c.1611A>C (p.Ala537=) c.1102-938A>C (n.1102-938A>C) c.963A>C (p.Ala321=) | |
| 3 | g.38909061G>A | CA352167915 | SCN11A | c.1235C>T (p.Ala412Val) c.1055C>T (p.Ala352Val) c.1279C>T (n.1279C>T) c.572C>T (p.Ala191Val) c.1610C>T (p.Ala537Val) c.1102-939C>T (n.1102-939C>T) c.962C>T (p.Ala321Val) | |
| 3 | g.38909061G>C | CA352167916 | SCN11A | c.1235C>G (p.Ala412Gly) c.1055C>G (p.Ala352Gly) c.1279C>G (n.1279C>G) c.572C>G (p.Ala191Gly) c.1610C>G (p.Ala537Gly) c.1102-939C>G (n.1102-939C>G) c.962C>G (p.Ala321Gly) | |
| 3 | g.38909061G>T | CA352167917 | SCN11A | c.1235C>A (p.Ala412Glu) c.1055C>A (p.Ala352Glu) c.1279C>A (n.1279C>A) c.572C>A (p.Ala191Glu) c.1610C>A (p.Ala537Glu) c.1102-939C>A (n.1102-939C>A) c.962C>A (p.Ala321Glu) | |
| 3 | g.38909062C>A | CA352167918 | SCN11A | c.1234G>T (p.Ala412Ser) c.1054G>T (p.Ala352Ser) c.1278G>T (n.1278G>T) c.571G>T (p.Ala191Ser) c.1609G>T (p.Ala537Ser) c.1102-940G>T (n.1102-940G>T) c.961G>T (p.Ala321Ser) | |
| 3 | g.38909062C>G | CA352167919 | SCN11A | c.1234G>C (p.Ala412Pro) c.1054G>C (p.Ala352Pro) c.1278G>C (n.1278G>C) c.571G>C (p.Ala191Pro) c.1609G>C (p.Ala537Pro) c.1102-940G>C (n.1102-940G>C) c.961G>C (p.Ala321Pro) | |
| 3 | g.38909062C>T | CA352167920 | SCN11A | c.1234G>A (p.Ala412Thr) c.1054G>A (p.Ala352Thr) c.1278G>A (n.1278G>A) c.571G>A (p.Ala191Thr) c.1609G>A (p.Ala537Thr) c.1102-940G>A (n.1102-940G>A) c.961G>A (p.Ala321Thr) | |
| 3 | g.38909063A>C | CA433141450 | SCN11A | c.1233T>G (p.Ala411=) c.1053T>G (p.Ala351=) c.1277T>G (n.1277T>G) c.570T>G (p.Ala190=) c.1608T>G (p.Ala536=) c.1102-941T>G (n.1102-941T>G) c.960T>G (p.Ala320=) | ClinVar dbSNP |
| 3 | g.38909063A>G | CA433141451 | SCN11A | c.1233T>C (p.Ala411=) c.1053T>C (p.Ala351=) c.1277T>C (n.1277T>C) c.570T>C (p.Ala190=) c.1608T>C (p.Ala536=) c.1102-941T>C (n.1102-941T>C) c.960T>C (p.Ala320=) | |
| 3 | g.38909063A>T | CA433141452 | SCN11A | c.1233T>A (p.Ala411=) c.1053T>A (p.Ala351=) c.1277T>A (n.1277T>A) c.570T>A (p.Ala190=) c.1608T>A (p.Ala536=) c.1102-941T>A (n.1102-941T>A) c.960T>A (p.Ala320=) | |
| 3 | g.38909064G>A | CA352167921 | SCN11A | c.1232C>T (p.Ala411Val) c.1052C>T (p.Ala351Val) c.1276C>T (n.1276C>T) c.569C>T (p.Ala190Val) c.1607C>T (p.Ala536Val) c.1102-942C>T (n.1102-942C>T) c.959C>T (p.Ala320Val) | gnomAD v4 |
| 3 | g.38909064G>C | CA352167922 | SCN11A | c.1232C>G (p.Ala411Gly) c.1052C>G (p.Ala351Gly) c.1276C>G (n.1276C>G) c.569C>G (p.Ala190Gly) c.1607C>G (p.Ala536Gly) c.1102-942C>G (n.1102-942C>G) c.959C>G (p.Ala320Gly) | |
| 3 | g.38909064G>T | CA352167923 | SCN11A | c.1232C>A (p.Ala411Asp) c.1052C>A (p.Ala351Asp) c.1276C>A (n.1276C>A) c.569C>A (p.Ala190Asp) c.1607C>A (p.Ala536Asp) c.1102-942C>A (n.1102-942C>A) c.959C>A (p.Ala320Asp) | |
| 3 | g.38909065C>A | CA352167925 | SCN11A | c.1231G>T (p.Ala411Ser) c.1051G>T (p.Ala351Ser) c.1275G>T (n.1275G>T) c.568G>T (p.Ala190Ser) c.1606G>T (p.Ala536Ser) c.1102-943G>T (n.1102-943G>T) c.958G>T (p.Ala320Ser) | |
| 3 | g.38909065C>G | CA352167926 | SCN11A | c.1231G>C (p.Ala411Pro) c.1051G>C (p.Ala351Pro) c.1275G>C (n.1275G>C) c.568G>C (p.Ala190Pro) c.1606G>C (p.Ala536Pro) c.1102-943G>C (n.1102-943G>C) c.958G>C (p.Ala320Pro) | |
| 3 | g.38909065C>T | CA352167924 | SCN11A | c.1231G>A (p.Ala411Thr) c.1051G>A (p.Ala351Thr) c.1275G>A (n.1275G>A) c.568G>A (p.Ala190Thr) c.1606G>A (p.Ala536Thr) c.1102-943G>A (n.1102-943G>A) c.958G>A (p.Ala320Thr) | |
| 3 | g.38909066T>A | CA433141455 | SCN11A | c.1230A>T (p.Val410=) c.1050A>T (p.Val350=) c.1274A>T (n.1274A>T) c.567A>T (p.Val189=) c.1605A>T (p.Val535=) c.1102-944A>T (n.1102-944A>T) c.957A>T (p.Val319=) | |
| 3 | g.38909066T>C | CA433141453 | SCN11A | c.1230A>G (p.Val410=) c.1050A>G (p.Val350=) c.1274A>G (n.1274A>G) c.567A>G (p.Val189=) c.1605A>G (p.Val535=) c.1102-944A>G (n.1102-944A>G) c.957A>G (p.Val319=) | |
| 3 | g.38909066T>G | CA433141454 | SCN11A | c.1230A>C (p.Val410=) c.1050A>C (p.Val350=) c.1274A>C (n.1274A>C) c.567A>C (p.Val189=) c.1605A>C (p.Val535=) c.1102-944A>C (n.1102-944A>C) c.957A>C (p.Val319=) | |
| 3 | g.38909067A>C | CA352167927 | SCN11A | c.1229T>G (p.Val410Gly) c.1049T>G (p.Val350Gly) c.1273T>G (n.1273T>G) c.566T>G (p.Val189Gly) c.1604T>G (p.Val535Gly) c.1102-945T>G (n.1102-945T>G) c.956T>G (p.Val319Gly) | |
| 3 | g.38909067A>G | CA352167928 | SCN11A | c.1229T>C (p.Val410Ala) c.1049T>C (p.Val350Ala) c.1273T>C (n.1273T>C) c.566T>C (p.Val189Ala) c.1604T>C (p.Val535Ala) c.1102-945T>C (n.1102-945T>C) c.956T>C (p.Val319Ala) | ClinVar |
| 3 | g.38909067A>T | CA352167929 | SCN11A | c.1229T>A (p.Val410Glu) c.1049T>A (p.Val350Glu) c.1273T>A (n.1273T>A) c.566T>A (p.Val189Glu) c.1604T>A (p.Val535Glu) c.1102-945T>A (n.1102-945T>A) c.956T>A (p.Val319Glu) | |
| 3 | g.38909068C>A | CA352167930 | SCN11A | c.1228G>T (p.Val410Leu) c.1048G>T (p.Val350Leu) c.1272G>T (n.1272G>T) c.565G>T (p.Val189Leu) c.1603G>T (p.Val535Leu) c.1102-946G>T (n.1102-946G>T) c.955G>T (p.Val319Leu) | |
| 3 | g.38909068C>G | CA352167931 | SCN11A | c.1228G>C (p.Val410Leu) c.1048G>C (p.Val350Leu) c.1272G>C (n.1272G>C) c.565G>C (p.Val189Leu) c.1603G>C (p.Val535Leu) c.1102-946G>C (n.1102-946G>C) c.955G>C (p.Val319Leu) | |
| 3 | g.38909068C>T | CA352167932 | SCN11A | c.1228G>A (p.Val410Ile) c.1048G>A (p.Val350Ile) c.1272G>A (n.1272G>A) c.565G>A (p.Val189Ile) c.1603G>A (p.Val535Ile) c.1102-946G>A (n.1102-946G>A) c.955G>A (p.Val319Ile) | |
| 3 | g.38909069A= | CA1358724466 | SCN11A | c.1227T= (p.Asn409=) c.1047T= (p.Asn349=) c.1271T= (n.1271T=) c.564T= (p.Asn188=) c.1602T= (p.Asn534=) c.1102-947T= (n.1102-947T=) c.954T= (p.Asn318=) | |
| 3 | g.38909069A>C | CA352167933 | SCN11A | c.1227T>G (p.Asn409Lys) c.1047T>G (p.Asn349Lys) c.1271T>G (n.1271T>G) c.564T>G (p.Asn188Lys) c.1602T>G (p.Asn534Lys) c.1102-947T>G (n.1102-947T>G) c.954T>G (p.Asn318Lys) | |
| 3 | g.38909069A>G | CA433141456 | SCN11A | c.1227T>C (p.Asn409=) c.1047T>C (p.Asn349=) c.1271T>C (n.1271T>C) c.564T>C (p.Asn188=) c.1602T>C (p.Asn534=) c.1102-947T>C (n.1102-947T>C) c.954T>C (p.Asn318=) | dbSNP gnomAD v2 |
| 3 | g.38909069A>T | CA352167934 | SCN11A | c.1227T>A (p.Asn409Lys) c.1047T>A (p.Asn349Lys) c.1271T>A (n.1271T>A) c.564T>A (p.Asn188Lys) c.1602T>A (p.Asn534Lys) c.1102-947T>A (n.1102-947T>A) c.954T>A (p.Asn318Lys) | |
| 3 | g.38909070T>A | CA352167935 | SCN11A | c.1226A>T (p.Asn409Ile) c.1046A>T (p.Asn349Ile) c.1270A>T (n.1270A>T) c.563A>T (p.Asn188Ile) c.1601A>T (p.Asn534Ile) c.1102-948A>T (n.1102-948A>T) c.953A>T (p.Asn318Ile) | |
| 3 | g.38909070T>C | CA352167936 | SCN11A | c.1226A>G (p.Asn409Ser) c.1046A>G (p.Asn349Ser) c.1270A>G (n.1270A>G) c.563A>G (p.Asn188Ser) c.1601A>G (p.Asn534Ser) c.1102-948A>G (n.1102-948A>G) c.953A>G (p.Asn318Ser) | |
| 3 | g.38909070T>G | CA352167937 | SCN11A | c.1226A>C (p.Asn409Thr) c.1046A>C (p.Asn349Thr) c.1270A>C (n.1270A>C) c.563A>C (p.Asn188Thr) c.1601A>C (p.Asn534Thr) c.1102-948A>C (n.1102-948A>C) c.953A>C (p.Asn318Thr) | |
| 3 | g.38909071T>A | CA352167938 | SCN11A | c.1225A>T (p.Asn409Tyr) c.1045A>T (p.Asn349Tyr) c.1269A>T (n.1269A>T) c.562A>T (p.Asn188Tyr) c.1600A>T (p.Asn534Tyr) c.1102-949A>T (n.1102-949A>T) c.952A>T (p.Asn318Tyr) | |
| 3 | g.38909071T>C | CA352167939 | SCN11A | c.1225A>G (p.Asn409Asp) c.1045A>G (p.Asn349Asp) c.1269A>G (n.1269A>G) c.562A>G (p.Asn188Asp) c.1600A>G (p.Asn534Asp) c.1102-949A>G (n.1102-949A>G) c.952A>G (p.Asn318Asp) | |
| 3 | g.38909071T>G | CA352167940 | SCN11A | c.1225A>C (p.Asn409His) c.1045A>C (p.Asn349His) c.1269A>C (n.1269A>C) c.562A>C (p.Asn188His) c.1600A>C (p.Asn534His) c.1102-949A>C (n.1102-949A>C) c.952A>C (p.Asn318His) | |
| 3 | g.38909072C>A | CA352167941 | SCN11A | c.1224G>T (p.Lys408Asn) c.1044G>T (p.Lys348Asn) c.1268G>T (n.1268G>T) c.561G>T (p.Lys187Asn) c.1599G>T (p.Lys533Asn) c.1102-950G>T (n.1102-950G>T) c.951G>T (p.Lys317Asn) | |
| 3 | g.38909072C>G | CA352167942 | SCN11A | c.1224G>C (p.Lys408Asn) c.1044G>C (p.Lys348Asn) c.1268G>C (n.1268G>C) c.561G>C (p.Lys187Asn) c.1599G>C (p.Lys533Asn) c.1102-950G>C (n.1102-950G>C) c.951G>C (p.Lys317Asn) | |
| 3 | g.38909072C>T | CA433141457 | SCN11A | c.1224G>A (p.Lys408=) c.1044G>A (p.Lys348=) c.1268G>A (n.1268G>A) c.561G>A (p.Lys187=) c.1599G>A (p.Lys533=) c.1102-950G>A (n.1102-950G>A) c.951G>A (p.Lys317=) | |
| 3 | g.38909073T>A | CA352167943 | SCN11A | c.1223A>T (p.Lys408Met) c.1043A>T (p.Lys348Met) c.1267A>T (n.1267A>T) c.560A>T (p.Lys187Met) c.1598A>T (p.Lys533Met) c.1102-951A>T (n.1102-951A>T) c.950A>T (p.Lys317Met) | |
| 3 | g.38909073T>C | CA2322373 | SCN11A | c.1223A>G (p.Lys408Arg) c.1043A>G (p.Lys348Arg) c.1267A>G (n.1267A>G) c.560A>G (p.Lys187Arg) c.1598A>G (p.Lys533Arg) c.1102-951A>G (n.1102-951A>G) c.950A>G (p.Lys317Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38909073T>G | CA2322374 | SCN11A | c.1223A>C (p.Lys408Thr) c.1043A>C (p.Lys348Thr) c.1267A>C (n.1267A>C) c.560A>C (p.Lys187Thr) c.1598A>C (p.Lys533Thr) c.1102-951A>C (n.1102-951A>C) c.950A>C (p.Lys317Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38909073T= | CA1358724467 | SCN11A | c.1223A= (p.Lys408=) c.1043A= (p.Lys348=) c.1267A= (n.1267A=) c.560A= (p.Lys187=) c.1598A= (p.Lys533=) c.1102-951A= (n.1102-951A=) c.950A= (p.Lys317=) | |
| 3 | g.38909074T>A | CA352167944 | SCN11A | c.1222A>T (p.Lys408Ter) c.1042A>T (p.Lys348Ter) c.1266A>T (n.1266A>T) c.559A>T (p.Lys187Ter) c.1597A>T (p.Lys533Ter) c.1102-952A>T (n.1102-952A>T) c.949A>T (p.Lys317Ter) | dbSNP gnomAD v4 |
| 3 | g.38909074T>C | CA352167946 | SCN11A | c.1222A>G (p.Lys408Glu) c.1042A>G (p.Lys348Glu) c.1266A>G (n.1266A>G) c.559A>G (p.Lys187Glu) c.1597A>G (p.Lys533Glu) c.1102-952A>G (n.1102-952A>G) c.949A>G (p.Lys317Glu) | |
| 3 | g.38909074T>G | CA352167945 | SCN11A | c.1222A>C (p.Lys408Gln) c.1042A>C (p.Lys348Gln) c.1266A>C (n.1266A>C) c.559A>C (p.Lys187Gln) c.1597A>C (p.Lys533Gln) c.1102-952A>C (n.1102-952A>C) c.949A>C (p.Lys317Gln) | |
| 3 | g.38909074T= | CA1358724468 | SCN11A | c.1222A= (p.Lys408=) c.1042A= (p.Lys348=) c.1266A= (n.1266A=) c.559A= (p.Lys187=) c.1597A= (p.Lys533=) c.1102-952A= (n.1102-952A=) c.949A= (p.Lys317=) | |
| 3 | g.38909075G>A | CA433141458 | SCN11A | c.1221C>T (p.Asn407=) c.1041C>T (p.Asn347=) c.1265C>T (n.1265C>T) c.558C>T (p.Asn186=) c.1596C>T (p.Asn532=) c.1102-953C>T (n.1102-953C>T) c.948C>T (p.Asn316=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38909075G>C | CA352167947 | SCN11A | c.1221C>G (p.Asn407Lys) c.1041C>G (p.Asn347Lys) c.1265C>G (n.1265C>G) c.558C>G (p.Asn186Lys) c.1596C>G (p.Asn532Lys) c.1102-953C>G (n.1102-953C>G) c.948C>G (p.Asn316Lys) | COSMIC |
| 3 | g.38909075G= | CA1358724469 | SCN11A | c.1221C= (p.Asn407=) c.1041C= (p.Asn347=) c.1265C= (n.1265C=) c.558C= (p.Asn186=) c.1596C= (p.Asn532=) c.1102-953C= (n.1102-953C=) c.948C= (p.Asn316=) | |
| 3 | g.38909075G>T | CA352167948 | SCN11A | c.1221C>A (p.Asn407Lys) c.1041C>A (p.Asn347Lys) c.1265C>A (n.1265C>A) c.558C>A (p.Asn186Lys) c.1596C>A (p.Asn532Lys) c.1102-953C>A (n.1102-953C>A) c.948C>A (p.Asn316Lys) | |
| 3 | g.38909076T>A | CA352167949 | SCN11A | c.1220A>T (p.Asn407Ile) c.1040A>T (p.Asn347Ile) c.1264A>T (n.1264A>T) c.557A>T (p.Asn186Ile) c.1595A>T (p.Asn532Ile) c.1102-954A>T (n.1102-954A>T) c.947A>T (p.Asn316Ile) | |
| 3 | g.38909076T>C | CA2322375 | SCN11A | c.1220A>G (p.Asn407Ser) c.1040A>G (p.Asn347Ser) c.1264A>G (n.1264A>G) c.557A>G (p.Asn186Ser) c.1595A>G (p.Asn532Ser) c.1102-954A>G (n.1102-954A>G) c.947A>G (p.Asn316Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38909076T>G | CA352167950 | SCN11A | c.1220A>C (p.Asn407Thr) c.1040A>C (p.Asn347Thr) c.1264A>C (n.1264A>C) c.557A>C (p.Asn186Thr) c.1595A>C (p.Asn532Thr) c.1102-954A>C (n.1102-954A>C) c.947A>C (p.Asn316Thr) | |
| 3 | g.38909076T= | CA1358724470 | SCN11A | c.1220A= (p.Asn407=) c.1040A= (p.Asn347=) c.1264A= (n.1264A=) c.557A= (p.Asn186=) c.1595A= (p.Asn532=) c.1102-954A= (n.1102-954A=) c.947A= (p.Asn316=) | |
| 3 | g.38909077T>A | CA352167951 | SCN11A | c.1219A>T (p.Asn407Tyr) c.1039A>T (p.Asn347Tyr) c.1263A>T (n.1263A>T) c.556A>T (p.Asn186Tyr) c.1594A>T (p.Asn532Tyr) c.1102-955A>T (n.1102-955A>T) c.946A>T (p.Asn316Tyr) | |
| 3 | g.38909077T>C | CA352167952 | SCN11A | c.1219A>G (p.Asn407Asp) c.1039A>G (p.Asn347Asp) c.1263A>G (n.1263A>G) c.556A>G (p.Asn186Asp) c.1594A>G (p.Asn532Asp) c.1102-955A>G (n.1102-955A>G) c.946A>G (p.Asn316Asp) | |
| 3 | g.38909077T>G | CA352167953 | SCN11A | c.1219A>C (p.Asn407His) c.1039A>C (p.Asn347His) c.1263A>C (n.1263A>C) c.556A>C (p.Asn186His) c.1594A>C (p.Asn532His) c.1102-955A>C (n.1102-955A>C) c.946A>C (p.Asn316His) | |
| 3 | g.38909078C>A | CA352167954 | SCN11A | c.1218G>T (p.Gln406His) c.1038G>T (p.Gln346His) c.1262G>T (n.1262G>T) c.555G>T (p.Gln185His) c.1593G>T (p.Gln531His) c.1102-956G>T (n.1102-956G>T) c.945G>T (p.Gln315His) | |
| 3 | g.38909078C= | CA1358724471 | SCN11A | c.1218G= (p.Gln406=) c.1038G= (p.Gln346=) c.1262G= (n.1262G=) c.555G= (p.Gln185=) c.1593G= (p.Gln531=) c.1102-956G= (n.1102-956G=) c.945G= (p.Gln315=) | |
| 3 | g.38909078C>G | CA352167955 | SCN11A | c.1218G>C (p.Gln406His) c.1038G>C (p.Gln346His) c.1262G>C (n.1262G>C) c.555G>C (p.Gln185His) c.1593G>C (p.Gln531His) c.1102-956G>C (n.1102-956G>C) c.945G>C (p.Gln315His) | |
| 3 | g.38909078C>T | CA433141459 | SCN11A | c.1218G>A (p.Gln406=) c.1038G>A (p.Gln346=) c.1262G>A (n.1262G>A) c.555G>A (p.Gln185=) c.1593G>A (p.Gln531=) c.1102-956G>A (n.1102-956G>A) c.945G>A (p.Gln315=) | dbSNP gnomAD v4 |
| 3 | g.38909079T>A | CA352167958 | SCN11A | c.1217A>T (p.Gln406Leu) c.1037A>T (p.Gln346Leu) c.1261A>T (n.1261A>T) c.554A>T (p.Gln185Leu) c.1592A>T (p.Gln531Leu) c.1102-957A>T (n.1102-957A>T) c.944A>T (p.Gln315Leu) | |
| 3 | g.38909079T>C | CA352167957 | SCN11A | c.1217A>G (p.Gln406Arg) c.1037A>G (p.Gln346Arg) c.1261A>G (n.1261A>G) c.554A>G (p.Gln185Arg) c.1592A>G (p.Gln531Arg) c.1102-957A>G (n.1102-957A>G) c.944A>G (p.Gln315Arg) | |
| 3 | g.38909079T>G | CA352167956 | SCN11A | c.1217A>C (p.Gln406Pro) c.1037A>C (p.Gln346Pro) c.1261A>C (n.1261A>C) c.554A>C (p.Gln185Pro) c.1592A>C (p.Gln531Pro) c.1102-957A>C (n.1102-957A>C) c.944A>C (p.Gln315Pro) | dbSNP |
| 3 | g.38909079T= | CA1358724472 | SCN11A | c.1217A= (p.Gln406=) c.1037A= (p.Gln346=) c.1261A= (n.1261A=) c.554A= (p.Gln185=) c.1592A= (p.Gln531=) c.1102-957A= (n.1102-957A=) c.944A= (p.Gln315=) | |
| 3 | g.38909080G>A | CA352167959 | SCN11A | c.1216C>T (p.Gln406Ter) c.1036C>T (p.Gln346Ter) c.1260C>T (n.1260C>T) c.553C>T (p.Gln185Ter) c.1591C>T (p.Gln531Ter) c.1102-958C>T (n.1102-958C>T) c.943C>T (p.Gln315Ter) | |
| 3 | g.38909080G>C | CA352167960 | SCN11A | c.1216C>G (p.Gln406Glu) c.1036C>G (p.Gln346Glu) c.1260C>G (n.1260C>G) c.553C>G (p.Gln185Glu) c.1591C>G (p.Gln531Glu) c.1102-958C>G (n.1102-958C>G) c.943C>G (p.Gln315Glu) | |
| 3 | g.38909080G>T | CA352167961 | SCN11A | c.1216C>A (p.Gln406Lys) c.1036C>A (p.Gln346Lys) c.1260C>A (n.1260C>A) c.553C>A (p.Gln185Lys) c.1591C>A (p.Gln531Lys) c.1102-958C>A (n.1102-958C>A) c.943C>A (p.Gln315Lys) | |
| 3 | g.38909081C>A | CA352167962 | SCN11A | c.1215G>T (p.Glu405Asp) c.1035G>T (p.Glu345Asp) c.1259G>T (n.1259G>T) c.552G>T (p.Glu184Asp) c.1590G>T (p.Glu530Asp) c.1102-959G>T (n.1102-959G>T) c.942G>T (p.Glu314Asp) | |
| 3 | g.38909081C= | CA1358724473 | SCN11A | c.1215G= (p.Glu405=) c.1035G= (p.Glu345=) c.1259G= (n.1259G=) c.552G= (p.Glu184=) c.1590G= (p.Glu530=) c.1102-959G= (n.1102-959G=) c.942G= (p.Glu314=) | |
| 3 | g.38909081C>G | CA352167963 | SCN11A | c.1215G>C (p.Glu405Asp) c.1035G>C (p.Glu345Asp) c.1259G>C (n.1259G>C) c.552G>C (p.Glu184Asp) c.1590G>C (p.Glu530Asp) c.1102-959G>C (n.1102-959G>C) c.942G>C (p.Glu314Asp) | |
| 3 | g.38909081C>T | CA2322376 | SCN11A | c.1215G>A (p.Glu405=) c.1035G>A (p.Glu345=) c.1259G>A (n.1259G>A) c.552G>A (p.Glu184=) c.1590G>A (p.Glu530=) c.1102-959G>A (n.1102-959G>A) c.942G>A (p.Glu314=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38909082T>A | CA352167964 | SCN11A | c.1214A>T (p.Glu405Val) c.1034A>T (p.Glu345Val) c.1258A>T (n.1258A>T) c.551A>T (p.Glu184Val) c.1589A>T (p.Glu530Val) c.1102-960A>T (n.1102-960A>T) c.941A>T (p.Glu314Val) | |
| 3 | g.38909082T>C | CA352167965 | SCN11A | c.1214A>G (p.Glu405Gly) c.1034A>G (p.Glu345Gly) c.1258A>G (n.1258A>G) c.551A>G (p.Glu184Gly) c.1589A>G (p.Glu530Gly) c.1102-960A>G (n.1102-960A>G) c.941A>G (p.Glu314Gly) | |
| 3 | g.38909082T>G | CA352167966 | SCN11A | c.1214A>C (p.Glu405Ala) c.1034A>C (p.Glu345Ala) c.1258A>C (n.1258A>C) c.551A>C (p.Glu184Ala) c.1589A>C (p.Glu530Ala) c.1102-960A>C (n.1102-960A>C) c.941A>C (p.Glu314Ala) | |
| 3 | g.38909083C>A | CA352167967 | SCN11A | c.1213G>T (p.Glu405Ter) c.1033G>T (p.Glu345Ter) c.1257G>T (n.1257G>T) c.550G>T (p.Glu184Ter) c.1588G>T (p.Glu530Ter) c.1102-961G>T (n.1102-961G>T) c.940G>T (p.Glu314Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38909083C= | CA1358724474 | SCN11A | c.1213G= (p.Glu405=) c.1033G= (p.Glu345=) c.1257G= (n.1257G=) c.550G= (p.Glu184=) c.1588G= (p.Glu530=) c.1102-961G= (n.1102-961G=) c.940G= (p.Glu314=) | |
| 3 | g.38909083C>G | CA352167968 | SCN11A | c.1213G>C (p.Glu405Gln) c.1033G>C (p.Glu345Gln) c.1257G>C (n.1257G>C) c.550G>C (p.Glu184Gln) c.1588G>C (p.Glu530Gln) c.1102-961G>C (n.1102-961G>C) c.940G>C (p.Glu314Gln) | |
| 3 | g.38909083C>T | CA352167969 | SCN11A | c.1213G>A (p.Glu405Lys) c.1033G>A (p.Glu345Lys) c.1257G>A (n.1257G>A) c.550G>A (p.Glu184Lys) c.1588G>A (p.Glu530Lys) c.1102-961G>A (n.1102-961G>A) c.940G>A (p.Glu314Lys) | gnomAD v4 COSMIC |
| 3 | g.38909084C>A | CA352167971 | SCN11A | c.1212G>T (p.Glu404Asp) c.1032G>T (p.Glu344Asp) c.1256G>T (n.1256G>T) c.549G>T (p.Glu183Asp) c.1587G>T (p.Glu529Asp) c.1102-962G>T (n.1102-962G>T) c.939G>T (p.Glu313Asp) | |
| 3 | g.38909084C= | CA1358724475 | SCN11A | c.1212G= (p.Glu404=) c.1032G= (p.Glu344=) c.1256G= (n.1256G=) c.549G= (p.Glu183=) c.1587G= (p.Glu529=) c.1102-962G= (n.1102-962G=) c.939G= (p.Glu313=) | |
| 3 | g.38909084C>G | CA352167970 | SCN11A | c.1212G>C (p.Glu404Asp) c.1032G>C (p.Glu344Asp) c.1256G>C (n.1256G>C) c.549G>C (p.Glu183Asp) c.1587G>C (p.Glu529Asp) c.1102-962G>C (n.1102-962G>C) c.939G>C (p.Glu313Asp) | |
| 3 | g.38909084C>T | CA433141460 | SCN11A | c.1212G>A (p.Glu404=) c.1032G>A (p.Glu344=) c.1256G>A (n.1256G>A) c.549G>A (p.Glu183=) c.1587G>A (p.Glu529=) c.1102-962G>A (n.1102-962G>A) c.939G>A (p.Glu313=) | dbSNP |
| 3 | g.38909085T>A | CA352167972 | SCN11A | c.1211A>T (p.Glu404Val) c.1031A>T (p.Glu344Val) c.1255A>T (n.1255A>T) c.548A>T (p.Glu183Val) c.1586A>T (p.Glu529Val) c.1102-963A>T (n.1102-963A>T) c.938A>T (p.Glu313Val) | |
| 3 | g.38909085T>C | CA2322377 | SCN11A | c.1211A>G (p.Glu404Gly) c.1031A>G (p.Glu344Gly) c.1255A>G (n.1255A>G) c.548A>G (p.Glu183Gly) c.1586A>G (p.Glu529Gly) c.1102-963A>G (n.1102-963A>G) c.938A>G (p.Glu313Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38909085T>G | CA352167973 | SCN11A | c.1211A>C (p.Glu404Ala) c.1031A>C (p.Glu344Ala) c.1255A>C (n.1255A>C) c.548A>C (p.Glu183Ala) c.1586A>C (p.Glu529Ala) c.1102-963A>C (n.1102-963A>C) c.938A>C (p.Glu313Ala) | |
| 3 | g.38909085T= | CA1358724476 | SCN11A | c.1211A= (p.Glu404=) c.1031A= (p.Glu344=) c.1255A= (n.1255A=) c.548A= (p.Glu183=) c.1586A= (p.Glu529=) c.1102-963A= (n.1102-963A=) c.938A= (p.Glu313=) | |
| 3 | g.38909086C>A | CA352167974 | SCN11A | c.1210G>T (p.Glu404Ter) c.1030G>T (p.Glu344Ter) c.1254G>T (n.1254G>T) c.547G>T (p.Glu183Ter) c.1585G>T (p.Glu529Ter) c.1102-964G>T (n.1102-964G>T) c.937G>T (p.Glu313Ter) | dbSNP |
| 3 | g.38909086C= | CA1358724477 | SCN11A | c.1210G= (p.Glu404=) c.1030G= (p.Glu344=) c.1254G= (n.1254G=) c.547G= (p.Glu183=) c.1585G= (p.Glu529=) c.1102-964G= (n.1102-964G=) c.937G= (p.Glu313=) | |
| 3 | g.38909086C>G | CA352167975 | SCN11A | c.1210G>C (p.Glu404Gln) c.1030G>C (p.Glu344Gln) c.1254G>C (n.1254G>C) c.547G>C (p.Glu183Gln) c.1585G>C (p.Glu529Gln) c.1102-964G>C (n.1102-964G>C) c.937G>C (p.Glu313Gln) | |
| 3 | g.38909086C>T | CA352167976 | SCN11A | c.1210G>A (p.Glu404Lys) c.1030G>A (p.Glu344Lys) c.1254G>A (n.1254G>A) c.547G>A (p.Glu183Lys) c.1585G>A (p.Glu529Lys) c.1102-964G>A (n.1102-964G>A) c.937G>A (p.Glu313Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38909087A>C | CA352167977 | SCN11A | c.1209T>G (p.Tyr403Ter) c.1029T>G (p.Tyr343Ter) c.1253T>G (n.1253T>G) c.546T>G (p.Tyr182Ter) c.1584T>G (p.Tyr528Ter) c.1102-965T>G (n.1102-965T>G) c.936T>G (p.Tyr312Ter) | |
| 3 | g.38909087A>G | CA433141461 | SCN11A | c.1209T>C (p.Tyr403=) c.1029T>C (p.Tyr343=) c.1253T>C (n.1253T>C) c.546T>C (p.Tyr182=) c.1584T>C (p.Tyr528=) c.1102-965T>C (n.1102-965T>C) c.936T>C (p.Tyr312=) | |
| 3 | g.38909087A>T | CA352167978 | SCN11A | c.1209T>A (p.Tyr403Ter) c.1029T>A (p.Tyr343Ter) c.1253T>A (n.1253T>A) c.546T>A (p.Tyr182Ter) c.1584T>A (p.Tyr528Ter) c.1102-965T>A (n.1102-965T>A) c.936T>A (p.Tyr312Ter) | |
| 3 | g.38909088T>A | CA352167979 | SCN11A | c.1208A>T (p.Tyr403Phe) c.1028A>T (p.Tyr343Phe) c.1252A>T (n.1252A>T) c.545A>T (p.Tyr182Phe) c.1583A>T (p.Tyr528Phe) c.1102-966A>T (n.1102-966A>T) c.935A>T (p.Tyr312Phe) | |
| 3 | g.38909088T>C | CA352167980 | SCN11A | c.1208A>G (p.Tyr403Cys) c.1028A>G (p.Tyr343Cys) c.1252A>G (n.1252A>G) c.545A>G (p.Tyr182Cys) c.1583A>G (p.Tyr528Cys) c.1102-966A>G (n.1102-966A>G) c.935A>G (p.Tyr312Cys) | gnomAD v4 |
| 3 | g.38909088T>G | CA352167981 | SCN11A | c.1208A>C (p.Tyr403Ser) c.1028A>C (p.Tyr343Ser) c.1252A>C (n.1252A>C) c.545A>C (p.Tyr182Ser) c.1583A>C (p.Tyr528Ser) c.1102-966A>C (n.1102-966A>C) c.935A>C (p.Tyr312Ser) | |
| 3 | g.38909089A>C | CA352167982 | SCN11A | c.1207T>G (p.Tyr403Asp) c.1027T>G (p.Tyr343Asp) c.1251T>G (n.1251T>G) c.544T>G (p.Tyr182Asp) c.1582T>G (p.Tyr528Asp) c.1102-967T>G (n.1102-967T>G) c.934T>G (p.Tyr312Asp) | |
| 3 | g.38909089A>G | CA352167983 | SCN11A | c.1207T>C (p.Tyr403His) c.1027T>C (p.Tyr343His) c.1251T>C (n.1251T>C) c.544T>C (p.Tyr182His) c.1582T>C (p.Tyr528His) c.1102-967T>C (n.1102-967T>C) c.934T>C (p.Tyr312His) | COSMIC |
| 3 | g.38909089A>T | CA352167984 | SCN11A | c.1207T>A (p.Tyr403Asn) c.1027T>A (p.Tyr343Asn) c.1251T>A (n.1251T>A) c.544T>A (p.Tyr182Asn) c.1582T>A (p.Tyr528Asn) c.1102-967T>A (n.1102-967T>A) c.934T>A (p.Tyr312Asn) | |
| 3 | g.38909090T>A | CA2322378 | SCN11A | c.1206A>T (p.Ala402=) c.1026A>T (p.Ala342=) c.1250A>T (n.1250A>T) c.543A>T (p.Ala181=) c.1581A>T (p.Ala527=) c.1102-968A>T (n.1102-968A>T) c.933A>T (p.Ala311=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38909090T>C | CA433141462 | SCN11A | c.1206A>G (p.Ala402=) c.1026A>G (p.Ala342=) c.1250A>G (n.1250A>G) c.543A>G (p.Ala181=) c.1581A>G (p.Ala527=) c.1102-968A>G (n.1102-968A>G) c.933A>G (p.Ala311=) | |
| 3 | g.38909090T>G | CA433141463 | SCN11A | c.1206A>C (p.Ala402=) c.1026A>C (p.Ala342=) c.1250A>C (n.1250A>C) c.543A>C (p.Ala181=) c.1581A>C (p.Ala527=) c.1102-968A>C (n.1102-968A>C) c.933A>C (p.Ala311=) | |
| 3 | g.38909090T= | CA1358724478 | SCN11A | c.1206A= (p.Ala402=) c.1026A= (p.Ala342=) c.1250A= (n.1250A=) c.543A= (p.Ala181=) c.1581A= (p.Ala527=) c.1102-968A= (n.1102-968A=) c.933A= (p.Ala311=) | |
| 3 | g.38909091G>A | CA352167985 | SCN11A | c.1205C>T (p.Ala402Val) c.1025C>T (p.Ala342Val) c.1249C>T (n.1249C>T) c.542C>T (p.Ala181Val) c.1580C>T (p.Ala527Val) c.1102-969C>T (n.1102-969C>T) c.932C>T (p.Ala311Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38909091G>C | CA352167986 | SCN11A | c.1205C>G (p.Ala402Gly) c.1025C>G (p.Ala342Gly) c.1249C>G (n.1249C>G) c.542C>G (p.Ala181Gly) c.1580C>G (p.Ala527Gly) c.1102-969C>G (n.1102-969C>G) c.932C>G (p.Ala311Gly) | |
| 3 | g.38909091G= | CA1358724479 | SCN11A | c.1205C= (p.Ala402=) c.1025C= (p.Ala342=) c.1249C= (n.1249C=) c.542C= (p.Ala181=) c.1580C= (p.Ala527=) c.1102-969C= (n.1102-969C=) c.932C= (p.Ala311=) | |
| 3 | g.38909091G>T | CA352167987 | SCN11A | c.1205C>A (p.Ala402Glu) c.1025C>A (p.Ala342Glu) c.1249C>A (n.1249C>A) c.542C>A (p.Ala181Glu) c.1580C>A (p.Ala527Glu) c.1102-969C>A (n.1102-969C>A) c.932C>A (p.Ala311Glu) | |
| 3 | g.38909092C>A | CA352167988 | SCN11A | c.1204G>T (p.Ala402Ser) c.1024G>T (p.Ala342Ser) c.1248G>T (n.1248G>T) c.541G>T (p.Ala181Ser) c.1579G>T (p.Ala527Ser) c.1102-970G>T (n.1102-970G>T) c.931G>T (p.Ala311Ser) | |
| 3 | g.38909092C>G | CA352167989 | SCN11A | c.1204G>C (p.Ala402Pro) c.1024G>C (p.Ala342Pro) c.1248G>C (n.1248G>C) c.541G>C (p.Ala181Pro) c.1579G>C (p.Ala527Pro) c.1102-970G>C (n.1102-970G>C) c.931G>C (p.Ala311Pro) | COSMIC |
| 3 | g.38909092C>T | CA352167990 | SCN11A | c.1204G>A (p.Ala402Thr) c.1024G>A (p.Ala342Thr) c.1248G>A (n.1248G>A) c.541G>A (p.Ala181Thr) c.1579G>A (p.Ala527Thr) c.1102-970G>A (n.1102-970G>A) c.931G>A (p.Ala311Thr) | |
| 3 | g.38909093C>A | CA352167991 | SCN11A | c.1203G>T (p.Met401Ile) c.1023G>T (p.Met341Ile) c.1247G>T (n.1247G>T) c.540G>T (p.Met180Ile) c.1578G>T (p.Met526Ile) c.1102-971G>T (n.1102-971G>T) c.930G>T (p.Met310Ile) | |
| 3 | g.38909093C>G | CA352167992 | SCN11A | c.1203G>C (p.Met401Ile) c.1023G>C (p.Met341Ile) c.1247G>C (n.1247G>C) c.540G>C (p.Met180Ile) c.1578G>C (p.Met526Ile) c.1102-971G>C (n.1102-971G>C) c.930G>C (p.Met310Ile) | |
| 3 | g.38909093C>T | CA352167993 | SCN11A | c.1203G>A (p.Met401Ile) c.1023G>A (p.Met341Ile) c.1247G>A (n.1247G>A) c.540G>A (p.Met180Ile) c.1578G>A (p.Met526Ile) c.1102-971G>A (n.1102-971G>A) c.930G>A (p.Met310Ile) | |
| 3 | g.38909094A= | CA1358724480 | SCN11A | c.1202T= (p.Met401=) c.1022T= (p.Met341=) c.1246T= (n.1246T=) c.539T= (p.Met180=) c.1577T= (p.Met526=) c.1102-972T= (n.1102-972T=) c.929T= (p.Met310=) | |
| 3 | g.38909094A>C | CA352167994 | SCN11A | c.1202T>G (p.Met401Arg) c.1022T>G (p.Met341Arg) c.1246T>G (n.1246T>G) c.539T>G (p.Met180Arg) c.1577T>G (p.Met526Arg) c.1102-972T>G (n.1102-972T>G) c.929T>G (p.Met310Arg) | |
| 3 | g.38909094A>G | CA352167995 | SCN11A | c.1202T>C (p.Met401Thr) c.1022T>C (p.Met341Thr) c.1246T>C (n.1246T>C) c.539T>C (p.Met180Thr) c.1577T>C (p.Met526Thr) c.1102-972T>C (n.1102-972T>C) c.929T>C (p.Met310Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38909094A>T | CA352167996 | SCN11A | c.1202T>A (p.Met401Lys) c.1022T>A (p.Met341Lys) c.1246T>A (n.1246T>A) c.539T>A (p.Met180Lys) c.1577T>A (p.Met526Lys) c.1102-972T>A (n.1102-972T>A) c.929T>A (p.Met310Lys) | |
| 3 | g.38909095T>A | CA352167998 | SCN11A | c.1201A>T (p.Met401Leu) c.1021A>T (p.Met341Leu) c.1245A>T (n.1245A>T) c.538A>T (p.Met180Leu) c.1576A>T (p.Met526Leu) c.1101+971A>T (n.1101+971A>T) c.928A>T (p.Met310Leu) | |
| 3 | g.38909095T>C | CA2322379 | SCN11A | c.1201A>G (p.Met401Val) c.1021A>G (p.Met341Val) c.1245A>G (n.1245A>G) c.538A>G (p.Met180Val) c.1576A>G (p.Met526Val) c.1101+971A>G (n.1101+971A>G) c.928A>G (p.Met310Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38909095T>G | CA352167997 | SCN11A | c.1201A>C (p.Met401Leu) c.1021A>C (p.Met341Leu) c.1245A>C (n.1245A>C) c.538A>C (p.Met180Leu) c.1576A>C (p.Met526Leu) c.1101+971A>C (n.1101+971A>C) c.928A>C (p.Met310Leu) | |
| 3 | g.38909095T= | CA1358724481 | SCN11A | c.1201A= (p.Met401=) c.1021A= (p.Met341=) c.1245A= (n.1245A=) c.538A= (p.Met180=) c.1576A= (p.Met526=) c.1101+971A= (n.1101+971A=) c.928A= (p.Met310=) | |
| 3 | g.38909096G>A | CA433141466 | SCN11A | c.1200C>T (p.Thr400=) c.1020C>T (p.Thr340=) c.1244C>T (n.1244C>T) c.537C>T (p.Thr179=) c.1575C>T (p.Thr525=) c.1101+970C>T (n.1101+970C>T) c.927C>T (p.Thr309=) | |
| 3 | g.38909096G>C | CA433141465 | SCN11A | c.1200C>G (p.Thr400=) c.1020C>G (p.Thr340=) c.1244C>G (n.1244C>G) c.537C>G (p.Thr179=) c.1575C>G (p.Thr525=) c.1101+970C>G (n.1101+970C>G) c.927C>G (p.Thr309=) | |
| 3 | g.38909096G>T | CA433141464 | SCN11A | c.1200C>A (p.Thr400=) c.1020C>A (p.Thr340=) c.1244C>A (n.1244C>A) c.537C>A (p.Thr179=) c.1575C>A (p.Thr525=) c.1101+970C>A (n.1101+970C>A) c.927C>A (p.Thr309=) | |
| 3 | g.38909097G>A | CA352167999 | SCN11A | c.1199C>T (p.Thr400Ile) c.1019C>T (p.Thr340Ile) c.1243C>T (n.1243C>T) c.536C>T (p.Thr179Ile) c.1574C>T (p.Thr525Ile) c.1101+969C>T (n.1101+969C>T) c.926C>T (p.Thr309Ile) | dbSNP gnomAD v4 |
| 3 | g.38909097G>C | CA352168001 | SCN11A | c.1199C>G (p.Thr400Ser) c.1019C>G (p.Thr340Ser) c.1243C>G (n.1243C>G) c.536C>G (p.Thr179Ser) c.1574C>G (p.Thr525Ser) c.1101+969C>G (n.1101+969C>G) c.926C>G (p.Thr309Ser) | |
| 3 | g.38909097G= | CA1358724482 | SCN11A | c.1199C= (p.Thr400=) c.1019C= (p.Thr340=) c.1243C= (n.1243C=) c.536C= (p.Thr179=) c.1574C= (p.Thr525=) c.1101+969C= (n.1101+969C=) c.926C= (p.Thr309=) | |
| 3 | g.38909097G>T | CA352168000 | SCN11A | c.1199C>A (p.Thr400Asn) c.1019C>A (p.Thr340Asn) c.1243C>A (n.1243C>A) c.536C>A (p.Thr179Asn) c.1574C>A (p.Thr525Asn) c.1101+969C>A (n.1101+969C>A) c.926C>A (p.Thr309Asn) | |
| 3 | g.38909098T>A | CA352168002 | SCN11A | c.1198A>T (p.Thr400Ser) c.1018A>T (p.Thr340Ser) c.1242A>T (n.1242A>T) c.535A>T (p.Thr179Ser) c.1573A>T (p.Thr525Ser) c.1101+968A>T (n.1101+968A>T) c.925A>T (p.Thr309Ser) | |
| 3 | g.38909098T>C | CA352168003 | SCN11A | c.1198A>G (p.Thr400Ala) c.1018A>G (p.Thr340Ala) c.1242A>G (n.1242A>G) c.535A>G (p.Thr179Ala) c.1573A>G (p.Thr525Ala) c.1101+968A>G (n.1101+968A>G) c.925A>G (p.Thr309Ala) | dbSNP gnomAD v4 |
| 3 | g.38909098T>G | CA352168004 | SCN11A | c.1198A>C (p.Thr400Pro) c.1018A>C (p.Thr340Pro) c.1242A>C (n.1242A>C) c.535A>C (p.Thr179Pro) c.1573A>C (p.Thr525Pro) c.1101+968A>C (n.1101+968A>C) c.925A>C (p.Thr309Pro) | |
| 3 | g.38909098T= | CA1358724484 | SCN11A | c.1198A= (p.Thr400=) c.1018A= (p.Thr340=) c.1242A= (n.1242A=) c.535A= (p.Thr179=) c.1573A= (p.Thr525=) c.1101+968A= (n.1101+968A=) c.925A= (p.Thr309=) | |
| 3 | g.38909098dup | CA2665128528 | SCN11A | c.1198dup (p.Thr400AsnfsTer5) c.1018dup (p.Thr340AsnfsTer5) c.1242dup (n.1242dup) c.535dup (p.Thr179AsnfsTer5) c.1573dup (p.Thr525AsnfsTer5) c.1101+968dup (n.1101+968dup) c.925dup (p.Thr309AsnfsTer5) | gnomAD v4 |
| 3 | g.38909098_38909101delinsTAAC | CA1358724483 | SCN11A | c.1195_1198delinsGTTA (p.Val399=) c.1015_1018delinsGTTA (p.Val339=) c.1239_1242delinsGTTA (n.1239_1242delinsGTTA) c.532_535delinsGTTA (p.Val178=) c.1570_1573delinsGTTA (p.Val524=) c.1101+965_1101+968delinsGTTA (n.1101+965_1101+968delinsGTTA) c.922_925delinsGTTA (p.Val308=) | |
| 3 | g.38909099A>C | CA433141469 | SCN11A | c.1197T>G (p.Val399=) c.1017T>G (p.Val339=) c.1241T>G (n.1241T>G) c.534T>G (p.Val178=) c.1572T>G (p.Val524=) c.1101+967T>G (n.1101+967T>G) c.924T>G (p.Val308=) | |
| 3 | g.38909099A>G | CA433141467 | SCN11A | c.1197T>C (p.Val399=) c.1017T>C (p.Val339=) c.1241T>C (n.1241T>C) c.534T>C (p.Val178=) c.1572T>C (p.Val524=) c.1101+967T>C (n.1101+967T>C) c.924T>C (p.Val308=) | |
| 3 | g.38909099A>T | CA433141468 | SCN11A | c.1197T>A (p.Val399=) c.1017T>A (p.Val339=) c.1241T>A (n.1241T>A) c.534T>A (p.Val178=) c.1572T>A (p.Val524=) c.1101+967T>A (n.1101+967T>A) c.924T>A (p.Val308=) | |
| 3 | g.38909103_38909105del | CA2322380 | SCN11A | c.1195_1197del (p.Val399del) c.1015_1017del (p.Val339del) c.1239_1241del (n.1239_1241del) c.532_534del (p.Val178del) c.1570_1572del (p.Val524del) c.1101+965_1101+967del (n.1101+965_1101+967del) c.922_924del (p.Val308del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38909100A>C | CA352168005 | SCN11A | c.1196T>G (p.Val399Gly) c.1016T>G (p.Val339Gly) c.1240T>G (n.1240T>G) c.533T>G (p.Val178Gly) c.1571T>G (p.Val524Gly) c.1101+966T>G (n.1101+966T>G) c.923T>G (p.Val308Gly) | |
| 3 | g.38909100A>G | CA352168006 | SCN11A | c.1196T>C (p.Val399Ala) c.1016T>C (p.Val339Ala) c.1240T>C (n.1240T>C) c.533T>C (p.Val178Ala) c.1571T>C (p.Val524Ala) c.1101+966T>C (n.1101+966T>C) c.923T>C (p.Val308Ala) | |
| 3 | g.38909100A>T | CA352168007 | SCN11A | c.1196T>A (p.Val399Asp) c.1016T>A (p.Val339Asp) c.1240T>A (n.1240T>A) c.533T>A (p.Val178Asp) c.1571T>A (p.Val524Asp) c.1101+966T>A (n.1101+966T>A) c.923T>A (p.Val308Asp) | |
| 3 | g.38909101C>A | CA352168008 | SCN11A | c.1195G>T (p.Val399Phe) c.1015G>T (p.Val339Phe) c.1239G>T (n.1239G>T) c.532G>T (p.Val178Phe) c.1570G>T (p.Val524Phe) c.1101+965G>T (n.1101+965G>T) c.922G>T (p.Val308Phe) | ClinVar gnomAD v4 |
| 3 | g.38909101C>G | CA352168009 | SCN11A | c.1195G>C (p.Val399Leu) c.1015G>C (p.Val339Leu) c.1239G>C (n.1239G>C) c.532G>C (p.Val178Leu) c.1570G>C (p.Val524Leu) c.1101+965G>C (n.1101+965G>C) c.922G>C (p.Val308Leu) | |
| 3 | g.38909101C>T | CA352168010 | SCN11A | c.1195G>A (p.Val399Ile) c.1015G>A (p.Val339Ile) c.1239G>A (n.1239G>A) c.532G>A (p.Val178Ile) c.1570G>A (p.Val524Ile) c.1101+965G>A (n.1101+965G>A) c.922G>A (p.Val308Ile) | COSMIC |
| 3 | g.38909102A>C | CA433141470 | SCN11A | c.1194T>G (p.Val398=) c.1014T>G (p.Val338=) c.1238T>G (n.1238T>G) c.531T>G (p.Val177=) c.1569T>G (p.Val523=) c.1101+964T>G (n.1101+964T>G) c.921T>G (p.Val307=) | |
| 3 | g.38909102A>G | CA433141471 | SCN11A | c.1194T>C (p.Val398=) c.1014T>C (p.Val338=) c.1238T>C (n.1238T>C) c.531T>C (p.Val177=) c.1569T>C (p.Val523=) c.1101+964T>C (n.1101+964T>C) c.921T>C (p.Val307=) | |
| 3 | g.38909102A>T | CA433141472 | SCN11A | c.1194T>A (p.Val398=) c.1014T>A (p.Val338=) c.1238T>A (n.1238T>A) c.531T>A (p.Val177=) c.1569T>A (p.Val523=) c.1101+964T>A (n.1101+964T>A) c.921T>A (p.Val307=) | |
| 3 | g.38909103A>C | CA352168013 | SCN11A | c.1193T>G (p.Val398Gly) c.1013T>G (p.Val338Gly) c.1237T>G (n.1237T>G) c.530T>G (p.Val177Gly) c.1568T>G (p.Val523Gly) c.1101+963T>G (n.1101+963T>G) c.920T>G (p.Val307Gly) | |
| 3 | g.38909103A>G | CA352168012 | SCN11A | c.1193T>C (p.Val398Ala) c.1013T>C (p.Val338Ala) c.1237T>C (n.1237T>C) c.530T>C (p.Val177Ala) c.1568T>C (p.Val523Ala) c.1101+963T>C (n.1101+963T>C) c.920T>C (p.Val307Ala) | |
| 3 | g.38909103A>T | CA352168011 | SCN11A | c.1193T>A (p.Val398Asp) c.1013T>A (p.Val338Asp) c.1237T>A (n.1237T>A) c.530T>A (p.Val177Asp) c.1568T>A (p.Val523Asp) c.1101+963T>A (n.1101+963T>A) c.920T>A (p.Val307Asp) | |
| 3 | g.38909104C>A | CA352168014 | SCN11A | c.1192G>T (p.Val398Phe) c.1012G>T (p.Val338Phe) c.1236G>T (n.1236G>T) c.529G>T (p.Val177Phe) c.1567G>T (p.Val523Phe) c.1101+962G>T (n.1101+962G>T) c.919G>T (p.Val307Phe) | gnomAD v4 |
| 3 | g.38909104C>G | CA352168015 | SCN11A | c.1192G>C (p.Val398Leu) c.1012G>C (p.Val338Leu) c.1236G>C (n.1236G>C) c.529G>C (p.Val177Leu) c.1567G>C (p.Val523Leu) c.1101+962G>C (n.1101+962G>C) c.919G>C (p.Val307Leu) | |
| 3 | g.38909104C>T | CA352168016 | SCN11A | c.1192G>A (p.Val398Ile) c.1012G>A (p.Val338Ile) c.1236G>A (n.1236G>A) c.529G>A (p.Val177Ile) c.1567G>A (p.Val523Ile) c.1101+962G>A (n.1101+962G>A) c.919G>A (p.Val307Ile) | |
| 3 | g.38909105A>C | CA433141473 | SCN11A | c.1191T>G (p.Ala397=) c.1011T>G (p.Ala337=) c.1235T>G (n.1235T>G) c.528T>G (p.Ala176=) c.1566T>G (p.Ala522=) c.1101+961T>G (n.1101+961T>G) c.918T>G (p.Ala306=) | |
| 3 | g.38909105A>G | CA433141474 | SCN11A | c.1191T>C (p.Ala397=) c.1011T>C (p.Ala337=) c.1235T>C (n.1235T>C) c.528T>C (p.Ala176=) c.1566T>C (p.Ala522=) c.1101+961T>C (n.1101+961T>C) c.918T>C (p.Ala306=) | |
| 3 | g.38909105A>T | CA433141475 | SCN11A | c.1191T>A (p.Ala397=) c.1011T>A (p.Ala337=) c.1235T>A (n.1235T>A) c.528T>A (p.Ala176=) c.1566T>A (p.Ala522=) c.1101+961T>A (n.1101+961T>A) c.918T>A (p.Ala306=) | |
| 3 | g.38909106G>A | CA352168017 | SCN11A | c.1190C>T (p.Ala397Val) c.1010C>T (p.Ala337Val) c.1234C>T (n.1234C>T) c.527C>T (p.Ala176Val) c.1565C>T (p.Ala522Val) c.1101+960C>T (n.1101+960C>T) c.917C>T (p.Ala306Val) | COSMIC |
| 3 | g.38909106G>C | CA352168018 | SCN11A | c.1190C>G (p.Ala397Gly) c.1010C>G (p.Ala337Gly) c.1234C>G (n.1234C>G) c.527C>G (p.Ala176Gly) c.1565C>G (p.Ala522Gly) c.1101+960C>G (n.1101+960C>G) c.917C>G (p.Ala306Gly) | |
| 3 | g.38909106G>T | CA352168019 | SCN11A | c.1190C>A (p.Ala397Asp) c.1010C>A (p.Ala337Asp) c.1234C>A (n.1234C>A) c.527C>A (p.Ala176Asp) c.1565C>A (p.Ala522Asp) c.1101+960C>A (n.1101+960C>A) c.917C>A (p.Ala306Asp) | |
| 3 | g.38909107C>A | CA352168020 | SCN11A | c.1189G>T (p.Ala397Ser) c.1009G>T (p.Ala337Ser) c.1233G>T (n.1233G>T) c.526G>T (p.Ala176Ser) c.1564G>T (p.Ala522Ser) c.1101+959G>T (n.1101+959G>T) c.916G>T (p.Ala306Ser) | |
| 3 | g.38909107C>G | CA352168021 | SCN11A | c.1189G>C (p.Ala397Pro) c.1009G>C (p.Ala337Pro) c.1233G>C (n.1233G>C) c.526G>C (p.Ala176Pro) c.1564G>C (p.Ala522Pro) c.1101+959G>C (n.1101+959G>C) c.916G>C (p.Ala306Pro) | gnomAD v4 COSMIC |
| 3 | g.38909107C>T | CA352168022 | SCN11A | c.1189G>A (p.Ala397Thr) c.1009G>A (p.Ala337Thr) c.1233G>A (n.1233G>A) c.526G>A (p.Ala176Thr) c.1564G>A (p.Ala522Thr) c.1101+959G>A (n.1101+959G>A) c.916G>A (p.Ala306Thr) | |
| 3 | g.38909108C>A | CA433141476 | SCN11A | c.1188G>T (p.Leu396=) c.1008G>T (p.Leu336=) c.1232G>T (n.1232G>T) c.525G>T (p.Leu175=) c.1563G>T (p.Leu521=) c.1101+958G>T (n.1101+958G>T) c.915G>T (p.Leu305=) | |
| 3 | g.38909108C>G | CA433141477 | SCN11A | c.1188G>C (p.Leu396=) c.1008G>C (p.Leu336=) c.1232G>C (n.1232G>C) c.525G>C (p.Leu175=) c.1563G>C (p.Leu521=) c.1101+958G>C (n.1101+958G>C) c.915G>C (p.Leu305=) | |
| 3 | g.38909108C>T | CA433141478 | SCN11A | c.1188G>A (p.Leu396=) c.1008G>A (p.Leu336=) c.1232G>A (n.1232G>A) c.525G>A (p.Leu175=) c.1563G>A (p.Leu521=) c.1101+958G>A (n.1101+958G>A) c.915G>A (p.Leu305=) | |
| 3 | g.38909109A= | CA1358724485 | SCN11A | c.1187T= (p.Leu396=) c.1007T= (p.Leu336=) c.1231T= (n.1231T=) c.524T= (p.Leu175=) c.1562T= (p.Leu521=) c.1101+957T= (n.1101+957T=) c.914T= (p.Leu305=) | |
| 3 | g.38909109A>C | CA352168023 | SCN11A | c.1187T>G (p.Leu396Arg) c.1007T>G (p.Leu336Arg) c.1231T>G (n.1231T>G) c.524T>G (p.Leu175Arg) c.1562T>G (p.Leu521Arg) c.1101+957T>G (n.1101+957T>G) c.914T>G (p.Leu305Arg) | |
| 3 | g.38909109A>G | CA352168024 | SCN11A | c.1187T>C (p.Leu396Pro) c.1007T>C (p.Leu336Pro) c.1231T>C (n.1231T>C) c.524T>C (p.Leu175Pro) c.1562T>C (p.Leu521Pro) c.1101+957T>C (n.1101+957T>C) c.914T>C (p.Leu305Pro) | ClinVar dbSNP |
| 3 | g.38909109A>T | CA352168025 | SCN11A | c.1187T>A (p.Leu396Gln) c.1007T>A (p.Leu336Gln) c.1231T>A (n.1231T>A) c.524T>A (p.Leu175Gln) c.1562T>A (p.Leu521Gln) c.1101+957T>A (n.1101+957T>A) c.914T>A (p.Leu305Gln) |