17 | g.63941150G>A | CA292956504 | SCN4A | c.5132C>T (p.Ser1711Phe)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941150G>C | CA400613880 | SCN4A | c.5132C>G (p.Ser1711Cys)
| |
17 | g.63941150G= | CA2270160802 | SCN4A | c.5132C= (p.Ser1711=)
| |
17 | g.63941150G>T | CA400613876 | SCN4A | c.5132C>A (p.Ser1711Tyr)
| gnomAD v4 COSMIC |
17 | g.63941151A>C | CA400613886 | SCN4A | c.5131T>G (p.Ser1711Ala)
| |
17 | g.63941151A>G | CA400613883 | SCN4A | c.5131T>C (p.Ser1711Pro)
| |
17 | g.63941151A>T | CA400613889 | SCN4A | c.5131T>A (p.Ser1711Thr)
| |
17 | g.63941152G>A | CA501348341 | SCN4A | c.5130C>T (p.Pro1710=)
| ClinVar |
17 | g.63941152G>C | CA501348342 | SCN4A | c.5130C>G (p.Pro1710=)
| |
17 | g.63941152G>T | CA501348344 | SCN4A | c.5130C>A (p.Pro1710=)
| |
17 | g.63941153G>A | CA400613894 | SCN4A | c.5129C>T (p.Pro1710Leu)
| dbSNP gnomAD v4 |
17 | g.63941153G>C | CA400613899 | SCN4A | c.5129C>G (p.Pro1710Arg)
| |
17 | g.63941153G= | CA2270160803 | SCN4A | c.5129C= (p.Pro1710=)
| |
17 | g.63941153G>T | CA400613896 | SCN4A | c.5129C>A (p.Pro1710His)
| |
17 | g.63941154G>A | CA8708833 | SCN4A | c.5128C>T (p.Pro1710Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941154G>C | CA400613904 | SCN4A | c.5128C>G (p.Pro1710Ala)
| |
17 | g.63941154G= | CA2270160804 | SCN4A | c.5128C= (p.Pro1710=)
| |
17 | g.63941154G>T | CA400613905 | SCN4A | c.5128C>A (p.Pro1710Thr)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941154_63941162delinsACA | CA2580094603 | SCN4A | c.5120_5128delinsTGT (p.Ala1707_Pro1710delinsValSer)
| ClinVar dbSNP |
17 | g.63941155G>A | CA501348349 | SCN4A | c.5127C>T (p.Asn1709=)
| gnomAD v4 |
17 | g.63941155G>C | CA400613909 | SCN4A | c.5127C>G (p.Asn1709Lys)
| |
17 | g.63941155G= | CA2270160805 | SCN4A | c.5127C= (p.Asn1709=)
| |
17 | g.63941155G>T | CA292956520 | SCN4A | c.5127C>A (p.Asn1709Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941156T>A | CA400613914 | SCN4A | c.5126A>T (p.Asn1709Ile)
| |
17 | g.63941156T>C | CA8708834 | SCN4A | c.5126A>G (p.Asn1709Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941156T>G | CA400613918 | SCN4A | c.5126A>C (p.Asn1709Thr)
| dbSNP |
17 | g.63941156T= | CA2270160806 | SCN4A | c.5126A= (p.Asn1709=)
| |
17 | g.63941157T>A | CA400613921 | SCN4A | c.5125A>T (p.Asn1709Tyr)
| |
17 | g.63941157T>C | CA400613924 | SCN4A | c.5125A>G (p.Asn1709Asp)
| |
17 | g.63941157T>G | CA400613927 | SCN4A | c.5125A>C (p.Asn1709His)
| ClinVar gnomAD v4 |
17 | g.63941158G>A | CA501348353 | SCN4A | c.5124C>T (p.Ala1708=)
| ClinVar dbSNP |
17 | g.63941158G>C | CA501348354 | SCN4A | c.5124C>G (p.Ala1708=)
| |
17 | g.63941158G= | CA2270160807 | SCN4A | c.5124C= (p.Ala1708=)
| |
17 | g.63941158G>T | CA501348355 | SCN4A | c.5124C>A (p.Ala1708=)
| |
17 | g.63941159G>A | CA400613935 | SCN4A | c.5123C>T (p.Ala1708Val)
| |
17 | g.63941159G>C | CA400613932 | SCN4A | c.5123C>G (p.Ala1708Gly)
| dbSNP |
17 | g.63941159G= | CA2270160808 | SCN4A | c.5123C= (p.Ala1708=)
| |
17 | g.63941159G>T | CA400613929 | SCN4A | c.5123C>A (p.Ala1708Asp)
| |
17 | g.63941160C>A | CA400613939 | SCN4A | c.5122G>T (p.Ala1708Ser)
| |
17 | g.63941160C>G | CA400613942 | SCN4A | c.5122G>C (p.Ala1708Pro)
| |
17 | g.63941160C>T | CA400613944 | SCN4A | c.5122G>A (p.Ala1708Thr)
| |
17 | g.63941161T>A | CA501348358 | SCN4A | c.5121A>T (p.Ala1707=)
| |
17 | g.63941161T>C | CA501348360 | SCN4A | c.5121A>G (p.Ala1707=)
| dbSNP |
17 | g.63941161T>G | CA501348361 | SCN4A | c.5121A>C (p.Ala1707=)
| gnomAD v4 |
17 | g.63941161T= | CA2270160809 | SCN4A | c.5121A= (p.Ala1707=)
| |
17 | g.63941162G>A | CA400613949 | SCN4A | c.5120C>T (p.Ala1707Val)
| ClinVar gnomAD v4 |
17 | g.63941162G>C | CA400613952 | SCN4A | c.5120C>G (p.Ala1707Gly)
| |
17 | g.63941162G>T | CA400613955 | SCN4A | c.5120C>A (p.Ala1707Glu)
| |
17 | g.63941163C>A | CA400613957 | SCN4A | c.5119G>T (p.Ala1707Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941163C= | CA2270160810 | SCN4A | c.5119G= (p.Ala1707=)
| |
17 | g.63941163C>G | CA400613960 | SCN4A | c.5119G>C (p.Ala1707Pro)
| |
17 | g.63941163C>T | CA400613963 | SCN4A | c.5119G>A (p.Ala1707Thr)
| |
17 | g.63941164C>A | CA400613966 | SCN4A | c.5118G>T (p.Met1706Ile)
| |
17 | g.63941164C>G | CA400613969 | SCN4A | c.5118G>C (p.Met1706Ile)
| |
17 | g.63941164C>T | CA400613972 | SCN4A | c.5118G>A (p.Met1706Ile)
| |
17 | g.63941165A= | CA2270160811 | SCN4A | c.5117T= (p.Met1706=)
| |
17 | g.63941165A>C | CA400613978 | SCN4A | c.5117T>G (p.Met1706Arg)
| |
17 | g.63941165A>G | CA8708835 | SCN4A | c.5117T>C (p.Met1706Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941165A>T | CA400613975 | SCN4A | c.5117T>A (p.Met1706Lys)
| |
17 | g.63941166T>A | CA400613985 | SCN4A | c.5116A>T (p.Met1706Leu)
| gnomAD v4 |
17 | g.63941166T>C | CA400613981 | SCN4A | c.5116A>G (p.Met1706Val)
| |
17 | g.63941166T>G | CA400613984 | SCN4A | c.5116A>C (p.Met1706Leu)
| |
17 | g.63941167G>A | CA501348369 | SCN4A | c.5115C>T (p.Phe1705=)
| |
17 | g.63941167G>C | CA400613988 | SCN4A | c.5115C>G (p.Phe1705Leu)
| |
17 | g.63941167G= | CA2270160812 | SCN4A | c.5115C= (p.Phe1705=)
| |
17 | g.63941167G>T | CA400613990 | SCN4A | c.5115C>A (p.Phe1705Leu)
| ClinVar dbSNP |
17 | g.63941168A>C | CA400613992 | SCN4A | c.5114T>G (p.Phe1705Cys)
| |
17 | g.63941168A>G | CA400613995 | SCN4A | c.5114T>C (p.Phe1705Ser)
| |
17 | g.63941168A>T | CA400613997 | SCN4A | c.5114T>A (p.Phe1705Tyr)
| |
17 | g.63941169A= | CA2270160813 | SCN4A | c.5113T= (p.Phe1705=)
| |
17 | g.63941169A>C | CA400614000 | SCN4A | c.5113T>G (p.Phe1705Val)
| |
17 | g.63941169A>G | CA400614003 | SCN4A | c.5113T>C (p.Phe1705Leu)
| gnomAD v4 |
17 | g.63941169A>T | CA16620553 | SCN4A | c.5113T>A (p.Phe1705Ile)
| ClinVar dbSNP |
17 | g.63941169_63941172delinsACTT | CA2270160814 | SCN4A | c.5110_5113delinsAAGT (p.Lys1704=)
| |
17 | g.63941170C>A | CA400614007 | SCN4A | c.5112G>T (p.Lys1704Asn)
| |
17 | g.63941170C>G | CA400614009 | SCN4A | c.5112G>C (p.Lys1704Asn)
| |
17 | g.63941170C>T | CA501348371 | SCN4A | c.5112G>A (p.Lys1704=)
| |
17 | g.63941172_63941174del | CA915950729 | SCN4A | c.5110_5112del (p.Lys1704del)
| ClinVar dbSNP |
17 | g.63941171T>A | CA400614015 | SCN4A | c.5111A>T (p.Lys1704Met)
| |
17 | g.63941171T>C | CA400614013 | SCN4A | c.5111A>G (p.Lys1704Arg)
| |
17 | g.63941171T>G | CA400614011 | SCN4A | c.5111A>C (p.Lys1704Thr)
| |
17 | g.63941172T>A | CA400614018 | SCN4A | c.5110A>T (p.Lys1704Ter)
| dbSNP |
17 | g.63941172T>C | CA400614021 | SCN4A | c.5110A>G (p.Lys1704Glu)
| |
17 | g.63941172T>G | CA400614023 | SCN4A | c.5110A>C (p.Lys1704Gln)
| |
17 | g.63941172T= | CA2270160815 | SCN4A | c.5110A= (p.Lys1704=)
| |
17 | g.63941172_63941175delinsTCTC | CA2270160816 | SCN4A | c.5107_5110delinsGAGA (p.Glu1703=)
| |
17 | g.63941175_63941186del | CA2695226826 | SCN4A | c.5099_5110del (p.Thr1700_Glu1703del)
| |
17 | g.63941173C>A | CA400614026 | SCN4A | c.5109G>T (p.Glu1703Asp)
| |
17 | g.63941173C>G | CA400614029 | SCN4A | c.5109G>C (p.Glu1703Asp)
| |
17 | g.63941173C>T | CA501348375 | SCN4A | c.5109G>A (p.Glu1703=)
| |
17 | g.63941177_63941179del | CA627150279 | SCN4A | c.5107_5109del (p.Glu1703del)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941174T>A | CA400614032 | SCN4A | c.5108A>T (p.Glu1703Val)
| |
17 | g.63941174T>C | CA400614034 | SCN4A | c.5108A>G (p.Glu1703Gly)
| |
17 | g.63941174T>G | CA400614038 | SCN4A | c.5108A>C (p.Glu1703Ala)
| |
17 | g.63941175C>A | CA400614041 | SCN4A | c.5107G>T (p.Glu1703Ter)
| dbSNP |
17 | g.63941175C= | CA2270160817 | SCN4A | c.5107G= (p.Glu1703=)
| |
17 | g.63941175C>G | CA400614044 | SCN4A | c.5107G>C (p.Glu1703Gln)
| |
17 | g.63941175C>T | CA400614047 | SCN4A | c.5107G>A (p.Glu1703Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941176C>A | CA400614051 | SCN4A | c.5106G>T (p.Glu1702Asp)
| |
17 | g.63941176C>G | CA400614054 | SCN4A | c.5106G>C (p.Glu1702Asp)
| gnomAD v4 |
17 | g.63941176C>T | CA501348378 | SCN4A | c.5106G>A (p.Glu1702=)
| |
17 | g.63941177T>A | CA400614061 | SCN4A | c.5105A>T (p.Glu1702Val)
| ClinVar dbSNP |
17 | g.63941177T>C | CA400614062 | SCN4A | c.5105A>G (p.Glu1702Gly)
| ClinVar dbSNP |
17 | g.63941177T>G | CA400614058 | SCN4A | c.5105A>C (p.Glu1702Ala)
| |
17 | g.63941177T= | CA2270160818 | SCN4A | c.5105A= (p.Glu1702=)
| |
17 | g.63941178C>A | CA400614065 | SCN4A | c.5104G>T (p.Glu1702Ter)
| dbSNP |
17 | g.63941178C= | CA2270160819 | SCN4A | c.5104G= (p.Glu1702=)
| |
17 | g.63941178C>G | CA400614068 | SCN4A | c.5104G>C (p.Glu1702Gln)
| |
17 | g.63941178C>T | CA400614067 | SCN4A | c.5104G>A (p.Glu1702Lys)
| ClinVar dbSNP |
17 | g.63941179C>A | CA400614071 | SCN4A | c.5103G>T (p.Met1701Ile)
| |
17 | g.63941179C>G | CA400614073 | SCN4A | c.5103G>C (p.Met1701Ile)
| |
17 | g.63941179C>T | CA400614075 | SCN4A | c.5103G>A (p.Met1701Ile)
| gnomAD v4 |
17 | g.63941180A>C | CA400614077 | SCN4A | c.5102T>G (p.Met1701Arg)
| |
17 | g.63941180A>G | CA400614078 | SCN4A | c.5102T>C (p.Met1701Thr)
| ClinVar dbSNP |
17 | g.63941180A>T | CA400614080 | SCN4A | c.5102T>A (p.Met1701Lys)
| |
17 | g.63941181T>A | CA400614083 | SCN4A | c.5101A>T (p.Met1701Leu)
| |
17 | g.63941181T>C | CA400614084 | SCN4A | c.5101A>G (p.Met1701Val)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941181T>G | CA400614086 | SCN4A | c.5101A>C (p.Met1701Leu)
| |
17 | g.63941181T= | CA2270160820 | SCN4A | c.5101A= (p.Met1701=)
| |
17 | g.63941182G>A | CA501348383 | SCN4A | c.5100C>T (p.Thr1700=)
| COSMIC |
17 | g.63941182G>C | CA501348384 | SCN4A | c.5100C>G (p.Thr1700=)
| |
17 | g.63941182G>T | CA501348385 | SCN4A | c.5100C>A (p.Thr1700=)
| |
17 | g.63941183G>A | CA400614089 | SCN4A | c.5099C>T (p.Thr1700Ile)
| |
17 | g.63941183G>C | CA400614090 | SCN4A | c.5099C>G (p.Thr1700Ser)
| |
17 | g.63941183G>T | CA400614092 | SCN4A | c.5099C>A (p.Thr1700Asn)
| |
17 | g.63941184T>A | CA400614097 | SCN4A | c.5098A>T (p.Thr1700Ser)
| |
17 | g.63941184T>C | CA400614094 | SCN4A | c.5098A>G (p.Thr1700Ala)
| gnomAD v4 |
17 | g.63941184T>G | CA400614096 | SCN4A | c.5098A>C (p.Thr1700Pro)
| |
17 | g.63941184_63941185insGTCCTACGAGCCCACCACCACCC | CA2810127820 | SCN4A | c.5097_5098insGGGTGGTGGTGGGCTCGTAGGAC (p.Thr1700GlyfsTer?)
| |
17 | g.63941185C>A | CA400614099 | SCN4A | c.5097G>T (p.Gln1699His)
| |
17 | g.63941185C>G | CA400614101 | SCN4A | c.5097G>C (p.Gln1699His)
| gnomAD v4 |
17 | g.63941185C>T | CA501348392 | SCN4A | c.5097G>A (p.Gln1699=)
| |
17 | g.63941186T>A | CA400614105 | SCN4A | c.5096A>T (p.Gln1699Leu)
| |
17 | g.63941186T>C | CA400614107 | SCN4A | c.5096A>G (p.Gln1699Arg)
| |
17 | g.63941186T>G | CA400614109 | SCN4A | c.5096A>C (p.Gln1699Pro)
| |
17 | g.63941187G>A | CA400614111 | SCN4A | c.5095C>T (p.Gln1699Ter)
| |
17 | g.63941187G>C | CA400614112 | SCN4A | c.5095C>G (p.Gln1699Glu)
| |
17 | g.63941187G>T | CA400614114 | SCN4A | c.5095C>A (p.Gln1699Lys)
| |
17 | g.63941188C>A | CA400614116 | SCN4A | c.5094G>T (p.Lys1698Asn)
| |
17 | g.63941188C>G | CA400614118 | SCN4A | c.5094G>C (p.Lys1698Asn)
| |
17 | g.63941188C>T | CA501348396 | SCN4A | c.5094G>A (p.Lys1698=)
| |
17 | g.63941189T>A | CA400614122 | SCN4A | c.5093A>T (p.Lys1698Met)
| |
17 | g.63941189T>C | CA400614121 | SCN4A | c.5093A>G (p.Lys1698Arg)
| |
17 | g.63941189T>G | CA400614119 | SCN4A | c.5093A>C (p.Lys1698Thr)
| |
17 | g.63941190T>A | CA400614125 | SCN4A | c.5092A>T (p.Lys1698Ter)
| dbSNP |
17 | g.63941190T>C | CA400614126 | SCN4A | c.5092A>G (p.Lys1698Glu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941190T>G | CA400614129 | SCN4A | c.5092A>C (p.Lys1698Gln)
| |
17 | g.63941190T= | CA2270160821 | SCN4A | c.5092A= (p.Lys1698=)
| |
17 | g.63941191G>A | CA501348402 | SCN4A | c.5091C>T (p.Leu1697=)
| dbSNP |
17 | g.63941191G>C | CA501348403 | SCN4A | c.5091C>G (p.Leu1697=)
| gnomAD v4 |
17 | g.63941191G= | CA2270160822 | SCN4A | c.5091C= (p.Leu1697=)
| |
17 | g.63941191G>T | CA501348404 | SCN4A | c.5091C>A (p.Leu1697=)
| |
17 | g.63941192A>C | CA400614131 | SCN4A | c.5090T>G (p.Leu1697Arg)
| |
17 | g.63941192A>G | CA400614133 | SCN4A | c.5090T>C (p.Leu1697Pro)
| |
17 | g.63941192A>T | CA400614135 | SCN4A | c.5090T>A (p.Leu1697His)
| |
17 | g.63941193G>A | CA400614138 | SCN4A | c.5089C>T (p.Leu1697Phe)
| |
17 | g.63941193G>C | CA400614140 | SCN4A | c.5089C>G (p.Leu1697Val)
| gnomAD v4 |
17 | g.63941193G>T | CA400614141 | SCN4A | c.5089C>A (p.Leu1697Ile)
| |
17 | g.63941194G>A | CA8708836 | SCN4A | c.5088C>T (p.Ala1696=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941194G>C | CA501348408 | SCN4A | c.5088C>G (p.Ala1696=)
| |
17 | g.63941194G= | CA2270160823 | SCN4A | c.5088C= (p.Ala1696=)
| |
17 | g.63941194G>T | CA501348409 | SCN4A | c.5088C>A (p.Ala1696=)
| |
17 | g.63941195G>A | CA400614144 | SCN4A | c.5087C>T (p.Ala1696Val)
| |
17 | g.63941195G>C | CA400614145 | SCN4A | c.5087C>G (p.Ala1696Gly)
| |
17 | g.63941195G>T | CA400614146 | SCN4A | c.5087C>A (p.Ala1696Asp)
| |
17 | g.63941196C>A | CA8708838 | SCN4A | c.5086G>T (p.Ala1696Ser)
| dbSNP ExAC gnomAD v2 |
17 | g.63941196C= | CA2270160824 | SCN4A | c.5086G= (p.Ala1696=)
| |
17 | g.63941196C>G | CA400614148 | SCN4A | c.5086G>C (p.Ala1696Pro)
| |
17 | g.63941196C>T | CA8708837 | SCN4A | c.5086G>A (p.Ala1696Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941197_63941200del | CA2639322833 | SCN4A | c.5083_5086del (p.Asp1695ProfsTer?)
| gnomAD v4 |
17 | g.63941197G>A | CA8708839 | SCN4A | c.5085C>T (p.Asp1695=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941197G>C | CA400614155 | SCN4A | c.5085C>G (p.Asp1695Glu)
| |
17 | g.63941197G= | CA2270160825 | SCN4A | c.5085C= (p.Asp1695=)
| |
17 | g.63941197G>T | CA400614157 | SCN4A | c.5085C>A (p.Asp1695Glu)
| |
17 | g.63941198T>A | CA400614159 | SCN4A | c.5084A>T (p.Asp1695Val)
| |
17 | g.63941198T>C | CA400614161 | SCN4A | c.5084A>G (p.Asp1695Gly)
| |
17 | g.63941198T>G | CA400614164 | SCN4A | c.5084A>C (p.Asp1695Ala)
| |
17 | g.63941199C>A | CA400614168 | SCN4A | c.5083G>T (p.Asp1695Tyr)
| |
17 | g.63941199C= | CA2270160826 | SCN4A | c.5083G= (p.Asp1695=)
| |
17 | g.63941199C>G | CA8708840 | SCN4A | c.5083G>C (p.Asp1695His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941199C>T | CA400614173 | SCN4A | c.5083G>A (p.Asp1695Asn)
| |
17 | g.63941200C>A | CA400614178 | SCN4A | c.5082G>T (p.Met1694Ile)
| |
17 | g.63941200C>G | CA400614180 | SCN4A | c.5082G>C (p.Met1694Ile)
| |
17 | g.63941200C>T | CA400614182 | SCN4A | c.5082G>A (p.Met1694Ile)
| COSMIC |
17 | g.63941201A>C | CA400614188 | SCN4A | c.5081T>G (p.Met1694Arg)
| |
17 | g.63941201A>G | CA400614186 | SCN4A | c.5081T>C (p.Met1694Thr)
| |
17 | g.63941201A>T | CA400614184 | SCN4A | c.5081T>A (p.Met1694Lys)
| |
17 | g.63941202T>A | CA400614190 | SCN4A | c.5080A>T (p.Met1694Leu)
| |
17 | g.63941202T>C | CA400614189 | SCN4A | c.5080A>G (p.Met1694Val)
| |
17 | g.63941202T>G | CA400614191 | SCN4A | c.5080A>C (p.Met1694Leu)
| |
17 | g.63941203T>A | CA400614193 | SCN4A | c.5079A>T (p.Glu1693Asp)
| |
17 | g.63941203T>C | CA501348417 | SCN4A | c.5079A>G (p.Glu1693=)
| |
17 | g.63941203T>G | CA400614195 | SCN4A | c.5079A>C (p.Glu1693Asp)
| |
17 | g.63941204T>A | CA400614198 | SCN4A | c.5078A>T (p.Glu1693Val)
| |
17 | g.63941204T>C | CA400614201 | SCN4A | c.5078A>G (p.Glu1693Gly)
| |
17 | g.63941204T>G | CA400614203 | SCN4A | c.5078A>C (p.Glu1693Ala)
| |
17 | g.63941205C>A | CA400614205 | SCN4A | c.5077G>T (p.Glu1693Ter)
| dbSNP COSMIC |
17 | g.63941205C= | CA2270160827 | SCN4A | c.5077G= (p.Glu1693=)
| |
17 | g.63941205C>G | CA400614207 | SCN4A | c.5077G>C (p.Glu1693Gln)
| |
17 | g.63941205C>T | CA400614210 | SCN4A | c.5077G>A (p.Glu1693Lys)
| COSMIC |
17 | g.63941206C>A | CA501348421 | SCN4A | c.5076G>T (p.Gly1692=)
| |
17 | g.63941206C>G | CA501348422 | SCN4A | c.5076G>C (p.Gly1692=)
| |
17 | g.63941206C>T | CA501348423 | SCN4A | c.5076G>A (p.Gly1692=)
| COSMIC |
17 | g.63941207C>A | CA400614212 | SCN4A | c.5075G>T (p.Gly1692Val)
| |
17 | g.63941207C= | CA2270160828 | SCN4A | c.5075G= (p.Gly1692=)
| |
17 | g.63941207C>G | CA8708841 | SCN4A | c.5075G>C (p.Gly1692Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941207C>T | CA400614215 | SCN4A | c.5075G>A (p.Gly1692Glu)
| |
17 | g.63941208C>A | CA292956585 | SCN4A | c.5074G>T (p.Gly1692Trp)
| dbSNP |
17 | g.63941208C= | CA2270160829 | SCN4A | c.5074G= (p.Gly1692=)
| |
17 | g.63941208C>G | CA400614216 | SCN4A | c.5074G>C (p.Gly1692Arg)
| |
17 | g.63941208C>T | CA292956588 | SCN4A | c.5074G>A (p.Gly1692Arg)
| dbSNP |
17 | g.63941209A= | CA2270160830 | SCN4A | c.5073T= (p.Ser1691=)
| |
17 | g.63941209A>C | CA501348427 | SCN4A | c.5073T>G (p.Ser1691=)
| |
17 | g.63941209A>G | CA501348428 | SCN4A | c.5073T>C (p.Ser1691=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941209A>T | CA501348429 | SCN4A | c.5073T>A (p.Ser1691=)
| |
17 | g.63941210G>A | CA400614219 | SCN4A | c.5072C>T (p.Ser1691Phe)
| |
17 | g.63941210G>C | CA400614218 | SCN4A | c.5072C>G (p.Ser1691Cys)
| |
17 | g.63941210G>T | CA400614217 | SCN4A | c.5072C>A (p.Ser1691Tyr)
| |
17 | g.63941211A>C | CA400614220 | SCN4A | c.5071T>G (p.Ser1691Ala)
| |
17 | g.63941211A>G | CA400614221 | SCN4A | c.5071T>C (p.Ser1691Pro)
| |
17 | g.63941211A>T | CA400614222 | SCN4A | c.5071T>A (p.Ser1691Thr)
| |
17 | g.63941212G>A | CA8708842 | SCN4A | c.5070C>T (p.Asp1690=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941212G>C | CA400614223 | SCN4A | c.5070C>G (p.Asp1690Glu)
| |
17 | g.63941212G= | CA2270160831 | SCN4A | c.5070C= (p.Asp1690=)
| |
17 | g.63941212G>T | CA400614224 | SCN4A | c.5070C>A (p.Asp1690Glu)
| |
17 | g.63941213T>A | CA400614225 | SCN4A | c.5069A>T (p.Asp1690Val)
| |
17 | g.63941213T>C | CA400614226 | SCN4A | c.5069A>G (p.Asp1690Gly)
| gnomAD v4 |
17 | g.63941213T>G | CA400614227 | SCN4A | c.5069A>C (p.Asp1690Ala)
| gnomAD v4 |
17 | g.63941214C>A | CA400614228 | SCN4A | c.5068G>T (p.Asp1690Tyr)
| |
17 | g.63941214C>G | CA400614229 | SCN4A | c.5068G>C (p.Asp1690His)
| |
17 | g.63941214C>T | CA400614230 | SCN4A | c.5068G>A (p.Asp1690Asn)
| |
17 | g.63941215A>C | CA501347972 | SCN4A | c.5067T>G (p.Gly1689=)
| |
17 | g.63941215A>G | CA501347976 | SCN4A | c.5067T>C (p.Gly1689=)
| |
17 | g.63941215A>T | CA501347978 | SCN4A | c.5067T>A (p.Gly1689=)
| |
17 | g.63941216C>A | CA400614232 | SCN4A | c.5066G>T (p.Gly1689Val)
| |
17 | g.63941216C= | CA2270160832 | SCN4A | c.5066G= (p.Gly1689=)
| |
17 | g.63941216C>G | CA8708843 | SCN4A | c.5066G>C (p.Gly1689Ala)
| dbSNP ExAC gnomAD v2 |
17 | g.63941216C>T | CA400614231 | SCN4A | c.5066G>A (p.Gly1689Asp)
| gnomAD v4 |
17 | g.63941217C>A | CA400614233 | SCN4A | c.5065G>T (p.Gly1689Cys)
| |
17 | g.63941217C>G | CA400614234 | SCN4A | c.5065G>C (p.Gly1689Arg)
| |
17 | g.63941217C>T | CA400614235 | SCN4A | c.5065G>A (p.Gly1689Ser)
| |
17 | g.63941218C>A | CA501347992 | SCN4A | c.5064G>T (p.Leu1688=)
| |
17 | g.63941218C>G | CA501347997 | SCN4A | c.5064G>C (p.Leu1688=)
| gnomAD v4 |
17 | g.63941218C>T | CA501347993 | SCN4A | c.5064G>A (p.Leu1688=)
| |
17 | g.63941219A>C | CA400614236 | SCN4A | c.5063T>G (p.Leu1688Arg)
| |
17 | g.63941219A>G | CA400614237 | SCN4A | c.5063T>C (p.Leu1688Pro)
| |
17 | g.63941219A>T | CA400614238 | SCN4A | c.5063T>A (p.Leu1688Gln)
| |
17 | g.63941220G>A | CA501348002 | SCN4A | c.5062C>T (p.Leu1688=)
| gnomAD v4 |
17 | g.63941220G>C | CA400614239 | SCN4A | c.5062C>G (p.Leu1688Val)
| |
17 | g.63941220G>T | CA400614240 | SCN4A | c.5062C>A (p.Leu1688Met)
| |
17 | g.63941221G>A | CA501348003 | SCN4A | c.5061C>T (p.Val1687=)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941221G>C | CA501348005 | SCN4A | c.5061C>G (p.Val1687=)
| |
17 | g.63941221G= | CA2270160833 | SCN4A | c.5061C= (p.Val1687=)
| |
17 | g.63941221G>T | CA501348007 | SCN4A | c.5061C>A (p.Val1687=)
| gnomAD v4 |
17 | g.63941222A>C | CA400614241 | SCN4A | c.5060T>G (p.Val1687Gly)
| |
17 | g.63941222A>G | CA400614242 | SCN4A | c.5060T>C (p.Val1687Ala)
| |
17 | g.63941222A>T | CA400614243 | SCN4A | c.5060T>A (p.Val1687Asp)
| |
17 | g.63941223C>A | CA400614244 | SCN4A | c.5059G>T (p.Val1687Phe)
| gnomAD v4 |
17 | g.63941223C>G | CA400614245 | SCN4A | c.5059G>C (p.Val1687Leu)
| |
17 | g.63941223C>T | CA400614246 | SCN4A | c.5059G>A (p.Val1687Ile)
| |
17 | g.63941223_63941224del | CA2639322907 | SCN4A | c.5058_5059del (p.Glu1686AspfsTer4)
| gnomAD v4 |
17 | g.63941224C>A | CA400614247 | SCN4A | c.5058G>T (p.Glu1686Asp)
| COSMIC |
17 | g.63941224C= | CA2270160834 | SCN4A | c.5058G= (p.Glu1686=)
| |
17 | g.63941224C>G | CA292956598 | SCN4A | c.5058G>C (p.Glu1686Asp)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941224C>T | CA501348012 | SCN4A | c.5058G>A (p.Glu1686=)
| gnomAD v4 |
17 | g.63941225T>A | CA400614248 | SCN4A | c.5057A>T (p.Glu1686Val)
| |
17 | g.63941225T>C | CA400614249 | SCN4A | c.5057A>G (p.Glu1686Gly)
| |
17 | g.63941225T>G | CA400614250 | SCN4A | c.5057A>C (p.Glu1686Ala)
| |
17 | g.63941226C>A | CA292956602 | SCN4A | c.5056G>T (p.Glu1686Ter)
| dbSNP |
17 | g.63941226C= | CA2270160835 | SCN4A | c.5056G= (p.Glu1686=)
| |
17 | g.63941226C>G | CA400614251 | SCN4A | c.5056G>C (p.Glu1686Gln)
| COSMIC |
17 | g.63941226C>T | CA8708844 | SCN4A | c.5056G>A (p.Glu1686Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941227T>A | CA400614252 | SCN4A | c.5055A>T (p.Lys1685Asn)
| |
17 | g.63941227T>C | CA501348020 | SCN4A | c.5055A>G (p.Lys1685=)
| gnomAD v4 |
17 | g.63941227T>G | CA400614253 | SCN4A | c.5055A>C (p.Lys1685Asn)
| |
17 | g.63941228T>A | CA400614254 | SCN4A | c.5054A>T (p.Lys1685Ile)
| |
17 | g.63941228T>C | CA400614255 | SCN4A | c.5054A>G (p.Lys1685Arg)
| |
17 | g.63941228T>G | CA400614256 | SCN4A | c.5054A>C (p.Lys1685Thr)
| |
17 | g.63941229T>A | CA400614259 | SCN4A | c.5053A>T (p.Lys1685Ter)
| dbSNP |
17 | g.63941229T>C | CA400614258 | SCN4A | c.5053A>G (p.Lys1685Glu)
| |
17 | g.63941229T>G | CA400614257 | SCN4A | c.5053A>C (p.Lys1685Gln)
| |
17 | g.63941229T= | CA2270160836 | SCN4A | c.5053A= (p.Lys1685=)
| |
17 | g.63941230G>A | CA501348027 | SCN4A | c.5052C>T (p.Thr1684=)
| |
17 | g.63941230G>C | CA501348029 | SCN4A | c.5052C>G (p.Thr1684=)
| |
17 | g.63941230G>T | CA501348031 | SCN4A | c.5052C>A (p.Thr1684=)
| |
17 | g.63941231G>A | CA8708846 | SCN4A | c.5051C>T (p.Thr1684Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941231G>C | CA8708847 | SCN4A | c.5051C>G (p.Thr1684Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941231G= | CA2270160837 | SCN4A | c.5051C= (p.Thr1684=)
| |
17 | g.63941231G>T | CA8708845 | SCN4A | c.5051C>A (p.Thr1684Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941232T>A | CA400614260 | SCN4A | c.5050A>T (p.Thr1684Ser)
| |
17 | g.63941232T>C | CA400614261 | SCN4A | c.5050A>G (p.Thr1684Ala)
| gnomAD v4 |
17 | g.63941232T>G | CA400614262 | SCN4A | c.5050A>C (p.Thr1684Pro)
| gnomAD v4 |
17 | g.63941233C>A | CA501348040 | SCN4A | c.5049G>T (p.Leu1683=)
| |
17 | g.63941233C= | CA2270160838 | SCN4A | c.5049G= (p.Leu1683=)
| |
17 | g.63941233C>G | CA8708848 | SCN4A | c.5049G>C (p.Leu1683=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941233C>T | CA501348043 | SCN4A | c.5049G>A (p.Leu1683=)
| COSMIC |
17 | g.63941234A>C | CA400614263 | SCN4A | c.5048T>G (p.Leu1683Arg)
| gnomAD v4 |
17 | g.63941234A>G | CA400614264 | SCN4A | c.5048T>C (p.Leu1683Pro)
| |
17 | g.63941234A>T | CA400614265 | SCN4A | c.5048T>A (p.Leu1683Gln)
| ClinVar |
17 | g.63941235G>A | CA501348047 | SCN4A | c.5047C>T (p.Leu1683=)
| dbSNP gnomAD v4 |
17 | g.63941235G>C | CA400614266 | SCN4A | c.5047C>G (p.Leu1683Val)
| |
17 | g.63941235G= | CA2270160839 | SCN4A | c.5047C= (p.Leu1683=)
| |
17 | g.63941235G>T | CA400614267 | SCN4A | c.5047C>A (p.Leu1683Met)
| |
17 | g.63941236G>A | CA501348048 | SCN4A | c.5046C>T (p.Ala1682=)
| |
17 | g.63941236G>C | CA501348050 | SCN4A | c.5046C>G (p.Ala1682=)
| |
17 | g.63941236G>T | CA501348053 | SCN4A | c.5046C>A (p.Ala1682=)
| |
17 | g.63941237G>A | CA400614268 | SCN4A | c.5045C>T (p.Ala1682Val)
| |
17 | g.63941237G>C | CA400614269 | SCN4A | c.5045C>G (p.Ala1682Gly)
| |
17 | g.63941237G= | CA2270160840 | SCN4A | c.5045C= (p.Ala1682=)
| |
17 | g.63941237G>T | CA400614270 | SCN4A | c.5045C>A (p.Ala1682Asp)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941238C>A | CA400614273 | SCN4A | c.5044G>T (p.Ala1682Ser)
| |
17 | g.63941238C>G | CA400614271 | SCN4A | c.5044G>C (p.Ala1682Pro)
| |
17 | g.63941238C>T | CA400614272 | SCN4A | c.5044G>A (p.Ala1682Thr)
| gnomAD v4 |
17 | g.63941239A>C | CA400614274 | SCN4A | c.5043T>G (p.Phe1681Leu)
| |
17 | g.63941239A>G | CA501348058 | SCN4A | c.5043T>C (p.Phe1681=)
| |
17 | g.63941239A>T | CA400614275 | SCN4A | c.5043T>A (p.Phe1681Leu)
| |
17 | g.63941240A>C | CA400614276 | SCN4A | c.5042T>G (p.Phe1681Cys)
| gnomAD v4 |
17 | g.63941240A>G | CA400614277 | SCN4A | c.5042T>C (p.Phe1681Ser)
| |
17 | g.63941240A>T | CA400614278 | SCN4A | c.5042T>A (p.Phe1681Tyr)
| |
17 | g.63941241A>C | CA400614279 | SCN4A | c.5041T>G (p.Phe1681Val)
| |
17 | g.63941241A>G | CA400614280 | SCN4A | c.5041T>C (p.Phe1681Leu)
| |
17 | g.63941241A>T | CA400614281 | SCN4A | c.5041T>A (p.Phe1681Ile)
| |
17 | g.63941242G>A | CA501348064 | SCN4A | c.5040C>T (p.Leu1680=)
| |
17 | g.63941242G>C | CA501348063 | SCN4A | c.5040C>G (p.Leu1680=)
| |
17 | g.63941242G>T | CA501348062 | SCN4A | c.5040C>A (p.Leu1680=)
| COSMIC |
17 | g.63941243A>C | CA400614282 | SCN4A | c.5039T>G (p.Leu1680Arg)
| |
17 | g.63941243A>G | CA400614283 | SCN4A | c.5039T>C (p.Leu1680Pro)
| |
17 | g.63941243A>T | CA400614284 | SCN4A | c.5039T>A (p.Leu1680His)
| |
17 | g.63941244G>A | CA400614287 | SCN4A | c.5038C>T (p.Leu1680Phe)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941244G>C | CA400614286 | SCN4A | c.5038C>G (p.Leu1680Val)
| |
17 | g.63941244G= | CA2270160841 | SCN4A | c.5038C= (p.Leu1680=)
| |
17 | g.63941244G>T | CA400614285 | SCN4A | c.5038C>A (p.Leu1680Ile)
| |
17 | g.63941245G>A | CA8708849 | SCN4A | c.5037C>T (p.Ile1679=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941245G>C | CA400614288 | SCN4A | c.5037C>G (p.Ile1679Met)
| |
17 | g.63941245G= | CA2270160842 | SCN4A | c.5037C= (p.Ile1679=)
| |
17 | g.63941245G>T | CA8708850 | SCN4A | c.5037C>A (p.Ile1679=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941246A>C | CA400614289 | SCN4A | c.5036T>G (p.Ile1679Ser)
| |
17 | g.63941246A>G | CA400614290 | SCN4A | c.5036T>C (p.Ile1679Thr)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941246A>T | CA400614291 | SCN4A | c.5036T>A (p.Ile1679Asn)
| |
17 | g.63941247T>A | CA400614293 | SCN4A | c.5035A>T (p.Ile1679Phe)
| gnomAD v4 |
17 | g.63941247T>C | CA400614292 | SCN4A | c.5035A>G (p.Ile1679Val)
| ClinVar gnomAD v4 |
17 | g.63941247T>G | CA8708851 | SCN4A | c.5035A>C (p.Ile1679Leu)
| dbSNP ExAC gnomAD v2 |
17 | g.63941247T= | CA2270160843 | SCN4A | c.5035A= (p.Ile1679=)
| |
17 | g.63941248G>A | CA501348077 | SCN4A | c.5034C>T (p.Asp1678=)
| COSMIC |
17 | g.63941248G>C | CA400614294 | SCN4A | c.5034C>G (p.Asp1678Glu)
| |
17 | g.63941248G>T | CA400614295 | SCN4A | c.5034C>A (p.Asp1678Glu)
| |
17 | g.63941249T>A | CA400614296 | SCN4A | c.5033A>T (p.Asp1678Val)
| |
17 | g.63941249T>C | CA400614297 | SCN4A | c.5033A>G (p.Asp1678Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941249T>G | CA400614298 | SCN4A | c.5033A>C (p.Asp1678Ala)
| |
17 | g.63941249T= | CA2270160844 | SCN4A | c.5033A= (p.Asp1678=)
| |
17 | g.63941250C>A | CA400614299 | SCN4A | c.5032G>T (p.Asp1678Tyr)
| gnomAD v4 |
17 | g.63941250C>G | CA400614301 | SCN4A | c.5032G>C (p.Asp1678His)
| |
17 | g.63941250C>T | CA400614300 | SCN4A | c.5032G>A (p.Asp1678Asn)
| |
17 | g.63941251del | CA2639323054 | SCN4A | c.5032del (p.Asp1678ThrfsTer6)
| gnomAD v4 |