17 | g.63941502T>A | CA400614991 | SCN4A | c.4780A>T (p.Ile1594Phe)
| |
17 | g.63941502T>C | CA8708903 | SCN4A | c.4780A>G (p.Ile1594Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941502T>G | CA400614992 | SCN4A | c.4780A>C (p.Ile1594Leu)
| |
17 | g.63941502T= | CA2270160968 | SCN4A | c.4780A= (p.Ile1594=)
| |
17 | g.63941503G>A | CA501348051 | SCN4A | c.4779C>T (p.Tyr1593=)
| |
17 | g.63941503G>C | CA400614994 | SCN4A | c.4779C>G (p.Tyr1593Ter)
| |
17 | g.63941503G>T | CA400614993 | SCN4A | c.4779C>A (p.Tyr1593Ter)
| ClinVar |
17 | g.63941504T>A | CA400614995 | SCN4A | c.4778A>T (p.Tyr1593Phe)
| ClinVar dbSNP |
17 | g.63941504T>C | CA400614997 | SCN4A | c.4778A>G (p.Tyr1593Cys)
| |
17 | g.63941504T>G | CA400614996 | SCN4A | c.4778A>C (p.Tyr1593Ser)
| |
17 | g.63941504T= | CA2270160969 | SCN4A | c.4778A= (p.Tyr1593=)
| |
17 | g.63941505A>C | CA400614998 | SCN4A | c.4777T>G (p.Tyr1593Asp)
| |
17 | g.63941505A>G | CA400614999 | SCN4A | c.4777T>C (p.Tyr1593His)
| |
17 | g.63941505A>T | CA400615000 | SCN4A | c.4777T>A (p.Tyr1593Asn)
| |
17 | g.63941506C>A | CA10603317 | SCN4A | c.4776G>T (p.Met1592Ile)
| ClinVar dbSNP |
17 | g.63941506C= | CA2270160970 | SCN4A | c.4776G= (p.Met1592=)
| |
17 | g.63941506C>G | CA400615001 | SCN4A | c.4776G>C (p.Met1592Ile)
| |
17 | g.63941506C>T | CA400615002 | SCN4A | c.4776G>A (p.Met1592Ile)
| ClinVar dbSNP |
17 | g.63941507A>C | CA400615003 | SCN4A | c.4775T>G (p.Met1592Arg)
| |
17 | g.63941507A>G | CA400615004 | SCN4A | c.4775T>C (p.Met1592Thr)
| gnomAD v4 |
17 | g.63941507A>T | CA400615005 | SCN4A | c.4775T>A (p.Met1592Lys)
| |
17 | g.63941508T>A | CA400615006 | SCN4A | c.4774A>T (p.Met1592Leu)
| |
17 | g.63941508T>C | CA117834 | SCN4A | c.4774A>G (p.Met1592Val)
| ClinVar dbSNP |
17 | g.63941508T>G | CA400615007 | SCN4A | c.4774A>C (p.Met1592Leu)
| |
17 | g.63941508T= | CA2270160971 | SCN4A | c.4774A= (p.Met1592=)
| |
17 | g.63941509G>A | CA501348061 | SCN4A | c.4773C>T (p.Asn1591=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941509G>C | CA400615008 | SCN4A | c.4773C>G (p.Asn1591Lys)
| |
17 | g.63941509G= | CA2270160972 | SCN4A | c.4773C= (p.Asn1591=)
| |
17 | g.63941509G>T | CA400615009 | SCN4A | c.4773C>A (p.Asn1591Lys)
| |
17 | g.63941510T>A | CA400615010 | SCN4A | c.4772A>T (p.Asn1591Ile)
| dbSNP |
17 | g.63941510T>C | CA400615011 | SCN4A | c.4772A>G (p.Asn1591Ser)
| |
17 | g.63941510T>G | CA400615012 | SCN4A | c.4772A>C (p.Asn1591Thr)
| |
17 | g.63941510T= | CA2270160973 | SCN4A | c.4772A= (p.Asn1591=)
| |
17 | g.63941511T>A | CA400615013 | SCN4A | c.4771A>T (p.Asn1591Tyr)
| |
17 | g.63941511T>C | CA400615014 | SCN4A | c.4771A>G (p.Asn1591Asp)
| gnomAD v4 |
17 | g.63941511T>G | CA400615015 | SCN4A | c.4771A>C (p.Asn1591His)
| |
17 | g.63941512G>A | CA501348065 | SCN4A | c.4770C>T (p.Val1590=)
| |
17 | g.63941512G>C | CA501348067 | SCN4A | c.4770C>G (p.Val1590=)
| |
17 | g.63941512G>T | CA501348066 | SCN4A | c.4770C>A (p.Val1590=)
| |
17 | g.63941513A>C | CA400615016 | SCN4A | c.4769T>G (p.Val1590Gly)
| |
17 | g.63941513A>G | CA400615017 | SCN4A | c.4769T>C (p.Val1590Ala)
| |
17 | g.63941513A>T | CA400615018 | SCN4A | c.4769T>A (p.Val1590Asp)
| |
17 | g.63941514C>A | CA400615019 | SCN4A | c.4768G>T (p.Val1590Phe)
| |
17 | g.63941514C= | CA2270160974 | SCN4A | c.4768G= (p.Val1590=)
| |
17 | g.63941514C>G | CA400615020 | SCN4A | c.4768G>C (p.Val1590Leu)
| |
17 | g.63941514C>T | CA8708904 | SCN4A | c.4768G>A (p.Val1590Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941515C>A | CA501348069 | SCN4A | c.4767G>T (p.Val1589=)
| dbSNP |
17 | g.63941515C= | CA2270160975 | SCN4A | c.4767G= (p.Val1589=)
| |
17 | g.63941515C>G | CA501348070 | SCN4A | c.4767G>C (p.Val1589=)
| |
17 | g.63941515C>T | CA501348071 | SCN4A | c.4767G>A (p.Val1589=)
| |
17 | g.63941516A= | CA2270160976 | SCN4A | c.4766T= (p.Val1589=)
| |
17 | g.63941516A>C | CA400615021 | SCN4A | c.4766T>G (p.Val1589Gly)
| |
17 | g.63941516A>G | CA8708905 | SCN4A | c.4766T>C (p.Val1589Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941516A>T | CA400615022 | SCN4A | c.4766T>A (p.Val1589Glu)
| |
17 | g.63941517C>A | CA400615023 | SCN4A | c.4765G>T (p.Val1589Leu)
| |
17 | g.63941517C= | CA2270160977 | SCN4A | c.4765G= (p.Val1589=)
| |
17 | g.63941517C>G | CA400615024 | SCN4A | c.4765G>C (p.Val1589Leu)
| |
17 | g.63941517C>T | CA117842 | SCN4A | c.4765G>A (p.Val1589Met)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941518G>A | CA8708906 | SCN4A | c.4764C>T (p.Ile1588=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.63941518G>C | CA400615025 | SCN4A | c.4764C>G (p.Ile1588Met)
| dbSNP gnomAD v4 |
17 | g.63941518G= | CA2270160978 | SCN4A | c.4764C= (p.Ile1588=)
| |
17 | g.63941518G>T | CA501348076 | SCN4A | c.4764C>A (p.Ile1588=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941519A>C | CA400615026 | SCN4A | c.4763T>G (p.Ile1588Ser)
| |
17 | g.63941519A>G | CA400615027 | SCN4A | c.4763T>C (p.Ile1588Thr)
| gnomAD v3 gnomAD v4 |
17 | g.63941519A>T | CA400615028 | SCN4A | c.4763T>A (p.Ile1588Asn)
| |
17 | g.63941520T>A | CA400615029 | SCN4A | c.4762A>T (p.Ile1588Phe)
| |
17 | g.63941520T>C | CA400615030 | SCN4A | c.4762A>G (p.Ile1588Val)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941520T>G | CA400615031 | SCN4A | c.4762A>C (p.Ile1588Leu)
| |
17 | g.63941520T= | CA2270160979 | SCN4A | c.4762A= (p.Ile1588=)
| |
17 | g.63941521G>A | CA501348078 | SCN4A | c.4761C>T (p.Leu1587=)
| gnomAD v4 |
17 | g.63941521G>C | CA501348079 | SCN4A | c.4761C>G (p.Leu1587=)
| |
17 | g.63941521G>T | CA501348080 | SCN4A | c.4761C>A (p.Leu1587=)
| |
17 | g.63941523_63941525del | CA2697555062 | SCN4A | c.4759_4761del (p.Leu1587del)
| ClinVar |
17 | g.63941522A>C | CA400615032 | SCN4A | c.4760T>G (p.Leu1587Arg)
| |
17 | g.63941522A>G | CA400615033 | SCN4A | c.4760T>C (p.Leu1587Pro)
| |
17 | g.63941522A>T | CA400615034 | SCN4A | c.4760T>A (p.Leu1587His)
| |
17 | g.63941523G>A | CA400615035 | SCN4A | c.4759C>T (p.Leu1587Phe)
| ClinVar dbSNP |
17 | g.63941523G>C | CA400615036 | SCN4A | c.4759C>G (p.Leu1587Val)
| |
17 | g.63941523G= | CA2270160980 | SCN4A | c.4759C= (p.Leu1587=)
| |
17 | g.63941523G>T | CA400615037 | SCN4A | c.4759C>A (p.Leu1587Ile)
| |
17 | g.63941524G>A | CA501348082 | SCN4A | c.4758C>T (p.Phe1586=)
| |
17 | g.63941524G>C | CA400615038 | SCN4A | c.4758C>G (p.Phe1586Leu)
| |
17 | g.63941524G>T | CA400615039 | SCN4A | c.4758C>A (p.Phe1586Leu)
| |
17 | g.63941525A>C | CA400615040 | SCN4A | c.4757T>G (p.Phe1586Cys)
| |
17 | g.63941525A>G | CA400615041 | SCN4A | c.4757T>C (p.Phe1586Ser)
| ClinVar dbSNP |
17 | g.63941525A>T | CA400615042 | SCN4A | c.4757T>A (p.Phe1586Tyr)
| |
17 | g.63941526A>C | CA400615043 | SCN4A | c.4756T>G (p.Phe1586Val)
| |
17 | g.63941526A>G | CA400615044 | SCN4A | c.4756T>C (p.Phe1586Leu)
| |
17 | g.63941526A>T | CA400615045 | SCN4A | c.4756T>A (p.Phe1586Ile)
| |
17 | g.63941527G>A | CA501348092 | SCN4A | c.4755C>T (p.Ser1585=)
| gnomAD v4 |
17 | g.63941527G>C | CA501348091 | SCN4A | c.4755C>G (p.Ser1585=)
| |
17 | g.63941527G>T | CA501348089 | SCN4A | c.4755C>A (p.Ser1585=)
| |
17 | g.63941528G>A | CA400615046 | SCN4A | c.4754C>T (p.Ser1585Phe)
| ClinVar dbSNP gnomAD v2 |
17 | g.63941528G>C | CA400615047 | SCN4A | c.4754C>G (p.Ser1585Cys)
| |
17 | g.63941528G= | CA2270160981 | SCN4A | c.4754C= (p.Ser1585=)
| |
17 | g.63941528G>T | CA400615048 | SCN4A | c.4754C>A (p.Ser1585Tyr)
| |
17 | g.63941529A>C | CA400615049 | SCN4A | c.4753T>G (p.Ser1585Ala)
| |
17 | g.63941529A>G | CA400615050 | SCN4A | c.4753T>C (p.Ser1585Pro)
| gnomAD v4 |
17 | g.63941529A>T | CA400615051 | SCN4A | c.4753T>A (p.Ser1585Thr)
| |
17 | g.63941530G>A | CA501348095 | SCN4A | c.4752C>T (p.Ile1584=)
| dbSNP |
17 | g.63941530G>C | CA400615052 | SCN4A | c.4752C>G (p.Ile1584Met)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941530G= | CA2270160982 | SCN4A | c.4752C= (p.Ile1584=)
| |
17 | g.63941530G>T | CA501348096 | SCN4A | c.4752C>A (p.Ile1584=)
| |
17 | g.63941531A>C | CA400615055 | SCN4A | c.4751T>G (p.Ile1584Ser)
| |
17 | g.63941531A>G | CA400615053 | SCN4A | c.4751T>C (p.Ile1584Thr)
| |
17 | g.63941531A>T | CA400615054 | SCN4A | c.4751T>A (p.Ile1584Asn)
| |
17 | g.63941532T>A | CA400615058 | SCN4A | c.4750A>T (p.Ile1584Phe)
| |
17 | g.63941532T>C | CA400615060 | SCN4A | c.4750A>G (p.Ile1584Val)
| |
17 | g.63941532T>G | CA400615062 | SCN4A | c.4750A>C (p.Ile1584Leu)
| |
17 | g.63941533G>A | CA501348100 | SCN4A | c.4749C>T (p.Ile1583=)
| |
17 | g.63941533G>C | CA400615065 | SCN4A | c.4749C>G (p.Ile1583Met)
| |
17 | g.63941533G>T | CA501348101 | SCN4A | c.4749C>A (p.Ile1583=)
| |
17 | g.63941534A>C | CA400615069 | SCN4A | c.4748T>G (p.Ile1583Ser)
| |
17 | g.63941534A>G | CA400615071 | SCN4A | c.4748T>C (p.Ile1583Thr)
| |
17 | g.63941534A>T | CA400615074 | SCN4A | c.4748T>A (p.Ile1583Asn)
| |
17 | g.63941535T>A | CA400615076 | SCN4A | c.4747A>T (p.Ile1583Phe)
| |
17 | g.63941535T>C | CA400615080 | SCN4A | c.4747A>G (p.Ile1583Val)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941535T>G | CA400615083 | SCN4A | c.4747A>C (p.Ile1583Leu)
| |
17 | g.63941535T= | CA2270160983 | SCN4A | c.4747A= (p.Ile1583=)
| |
17 | g.63941536G>A | CA501348104 | SCN4A | c.4746C>T (p.Ile1582=)
| dbSNP gnomAD v4 |
17 | g.63941536G>C | CA400615085 | SCN4A | c.4746C>G (p.Ile1582Met)
| |
17 | g.63941536G= | CA2270160984 | SCN4A | c.4746C= (p.Ile1582=)
| |
17 | g.63941536G>T | CA501348107 | SCN4A | c.4746C>A (p.Ile1582=)
| |
17 | g.63941537A>C | CA400615091 | SCN4A | c.4745T>G (p.Ile1582Ser)
| |
17 | g.63941537A>G | CA400615094 | SCN4A | c.4745T>C (p.Ile1582Thr)
| gnomAD v4 |
17 | g.63941537A>T | CA400615089 | SCN4A | c.4745T>A (p.Ile1582Asn)
| |
17 | g.63941538T>A | CA400615097 | SCN4A | c.4744A>T (p.Ile1582Phe)
| |
17 | g.63941538T>C | CA400615099 | SCN4A | c.4744A>G (p.Ile1582Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941538T>G | CA400615101 | SCN4A | c.4744A>C (p.Ile1582Leu)
| |
17 | g.63941538T= | CA2270160985 | SCN4A | c.4744A= (p.Ile1582=)
| |
17 | g.63941539A>C | CA400615105 | SCN4A | c.4743T>G (p.Tyr1581Ter)
| |
17 | g.63941539A>G | CA501348108 | SCN4A | c.4743T>C (p.Tyr1581=)
| ClinVar |
17 | g.63941539A>T | CA400615107 | SCN4A | c.4743T>A (p.Tyr1581Ter)
| |
17 | g.63941540T>A | CA400615114 | SCN4A | c.4742A>T (p.Tyr1581Phe)
| |
17 | g.63941540T>C | CA292956882 | SCN4A | c.4742A>G (p.Tyr1581Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941540T>G | CA400615112 | SCN4A | c.4742A>C (p.Tyr1581Ser)
| |
17 | g.63941540T= | CA2270160986 | SCN4A | c.4742A= (p.Tyr1581=)
| |
17 | g.63941541A>C | CA400615117 | SCN4A | c.4741T>G (p.Tyr1581Asp)
| |
17 | g.63941541A>G | CA400615122 | SCN4A | c.4741T>C (p.Tyr1581His)
| |
17 | g.63941541A>T | CA400615124 | SCN4A | c.4741T>A (p.Tyr1581Asn)
| |
17 | g.63941542G>A | CA501348110 | SCN4A | c.4740C>T (p.Ser1580=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941542G>C | CA400615127 | SCN4A | c.4740C>G (p.Ser1580Arg)
| |
17 | g.63941542G= | CA2270160987 | SCN4A | c.4740C= (p.Ser1580=)
| |
17 | g.63941542G>T | CA400615129 | SCN4A | c.4740C>A (p.Ser1580Arg)
| |
17 | g.63941543C>A | CA400615131 | SCN4A | c.4739G>T (p.Ser1580Ile)
| |
17 | g.63941543C>G | CA400615136 | SCN4A | c.4739G>C (p.Ser1580Thr)
| |
17 | g.63941543C>T | CA400615133 | SCN4A | c.4739G>A (p.Ser1580Asn)
| gnomAD v4 |
17 | g.63941544T>A | CA400615139 | SCN4A | c.4738A>T (p.Ser1580Cys)
| |
17 | g.63941544T>C | CA400615144 | SCN4A | c.4738A>G (p.Ser1580Gly)
| |
17 | g.63941544T>G | CA400615142 | SCN4A | c.4738A>C (p.Ser1580Arg)
| |
17 | g.63941545G>A | CA501348113 | SCN4A | c.4737C>T (p.Cys1579=)
| |
17 | g.63941545G>C | CA400615147 | SCN4A | c.4737C>G (p.Cys1579Trp)
| dbSNP |
17 | g.63941545G= | CA2270160988 | SCN4A | c.4737C= (p.Cys1579=)
| |
17 | g.63941545G>T | CA400615148 | SCN4A | c.4737C>A (p.Cys1579Ter)
| dbSNP gnomAD v4 |
17 | g.63941546C>A | CA400615152 | SCN4A | c.4736G>T (p.Cys1579Phe)
| |
17 | g.63941546C>G | CA400615154 | SCN4A | c.4736G>C (p.Cys1579Ser)
| |
17 | g.63941546C>T | CA400615156 | SCN4A | c.4736G>A (p.Cys1579Tyr)
| |
17 | g.63941547A>C | CA400615160 | SCN4A | c.4735T>G (p.Cys1579Gly)
| |
17 | g.63941547A>G | CA400615162 | SCN4A | c.4735T>C (p.Cys1579Arg)
| |
17 | g.63941547A>T | CA400615163 | SCN4A | c.4735T>A (p.Cys1579Ser)
| |
17 | g.63941552_63941554del | CA2639323950 | SCN4A | c.4733_4735del (p.Phe1578del)
| gnomAD v4 |
17 | g.63941548G>A | CA501348115 | SCN4A | c.4734C>T (p.Phe1578=)
| |
17 | g.63941548G>C | CA400615166 | SCN4A | c.4734C>G (p.Phe1578Leu)
| |
17 | g.63941548G>T | CA400615168 | SCN4A | c.4734C>A (p.Phe1578Leu)
| |
17 | g.63941549A>C | CA400615170 | SCN4A | c.4733T>G (p.Phe1578Cys)
| |
17 | g.63941549A>G | CA400615172 | SCN4A | c.4733T>C (p.Phe1578Ser)
| |
17 | g.63941549A>T | CA400615174 | SCN4A | c.4733T>A (p.Phe1578Tyr)
| |
17 | g.63941550A>C | CA400615176 | SCN4A | c.4732T>G (p.Phe1578Val)
| |
17 | g.63941550A>G | CA400615181 | SCN4A | c.4732T>C (p.Phe1578Leu)
| |
17 | g.63941550A>T | CA400615179 | SCN4A | c.4732T>A (p.Phe1578Ile)
| gnomAD v4 |
17 | g.63941551G>A | CA501348117 | SCN4A | c.4731C>T (p.Phe1577=)
| |
17 | g.63941551G>C | CA400615184 | SCN4A | c.4731C>G (p.Phe1577Leu)
| |
17 | g.63941551G>T | CA400615186 | SCN4A | c.4731C>A (p.Phe1577Leu)
| |
17 | g.63941552A>C | CA400615189 | SCN4A | c.4730T>G (p.Phe1577Cys)
| gnomAD v4 |
17 | g.63941552A>G | CA400615191 | SCN4A | c.4730T>C (p.Phe1577Ser)
| |
17 | g.63941552A>T | CA400615193 | SCN4A | c.4730T>A (p.Phe1577Tyr)
| gnomAD v4 |
17 | g.63941553A>C | CA400615196 | SCN4A | c.4729T>G (p.Phe1577Val)
| |
17 | g.63941553A>G | CA400615199 | SCN4A | c.4729T>C (p.Phe1577Leu)
| |
17 | g.63941553A>T | CA400615201 | SCN4A | c.4729T>A (p.Phe1577Ile)
| |
17 | g.63941554G>A | CA501348119 | SCN4A | c.4728C>T (p.Cys1576=)
| gnomAD v4 |
17 | g.63941554G>C | CA400615204 | SCN4A | c.4728C>G (p.Cys1576Trp)
| |
17 | g.63941554G= | CA2270160989 | SCN4A | c.4728C= (p.Cys1576=)
| |
17 | g.63941554G>T | CA400615206 | SCN4A | c.4728C>A (p.Cys1576Ter)
| dbSNP |
17 | g.63941558_63941581del | CA2639323970 | SCN4A | c.4705_4728del (p.Gly1569_Cys1576del)
| gnomAD v4 |
17 | g.63941555C>A | CA400615214 | SCN4A | c.4727G>T (p.Cys1576Phe)
| |
17 | g.63941555C>G | CA400615212 | SCN4A | c.4727G>C (p.Cys1576Ser)
| |
17 | g.63941555C>T | CA400615209 | SCN4A | c.4727G>A (p.Cys1576Tyr)
| |
17 | g.63941556A= | CA2270160990 | SCN4A | c.4726T= (p.Cys1576=)
| |
17 | g.63941556A>C | CA400615217 | SCN4A | c.4726T>G (p.Cys1576Gly)
| |
17 | g.63941556A>G | CA292956884 | SCN4A | c.4726T>C (p.Cys1576Arg)
| dbSNP gnomAD v2 |
17 | g.63941556A>T | CA400615222 | SCN4A | c.4726T>A (p.Cys1576Ser)
| |
17 | g.63941557G>A | CA501348120 | SCN4A | c.4725C>T (p.Ile1575=)
| |
17 | g.63941557G>C | CA400615225 | SCN4A | c.4725C>G (p.Ile1575Met)
| |
17 | g.63941557G>T | CA501348122 | SCN4A | c.4725C>A (p.Ile1575=)
| |
17 | g.63941558A>C | CA400615228 | SCN4A | c.4724T>G (p.Ile1575Ser)
| |
17 | g.63941558A>G | CA400615230 | SCN4A | c.4724T>C (p.Ile1575Thr)
| |
17 | g.63941558A>T | CA400615232 | SCN4A | c.4724T>A (p.Ile1575Asn)
| |
17 | g.63941559T>A | CA400615235 | SCN4A | c.4723A>T (p.Ile1575Phe)
| |
17 | g.63941559T>C | CA400615237 | SCN4A | c.4723A>G (p.Ile1575Val)
| |
17 | g.63941559T>G | CA400615239 | SCN4A | c.4723A>C (p.Ile1575Leu)
| |
17 | g.63941560G>A | CA501348125 | SCN4A | c.4722C>T (p.Gly1574=)
| gnomAD v4 |
17 | g.63941560G>C | CA501348126 | SCN4A | c.4722C>G (p.Gly1574=)
| |
17 | g.63941560G>T | CA501348127 | SCN4A | c.4722C>A (p.Gly1574=)
| |
17 | g.63941561_63941563dup | CA2810127874 | SCN4A | c.4720_4722dup (p.Gly1574_Ile1575insGly)
| |
17 | g.63941561C>A | CA400615243 | SCN4A | c.4721G>T (p.Gly1574Val)
| |
17 | g.63941561C>G | CA400615244 | SCN4A | c.4721G>C (p.Gly1574Ala)
| |
17 | g.63941561C>T | CA400615247 | SCN4A | c.4721G>A (p.Gly1574Asp)
| |
17 | g.63941562C>A | CA400615254 | SCN4A | c.4720G>T (p.Gly1574Cys)
| |
17 | g.63941562C= | CA2270160991 | SCN4A | c.4720G= (p.Gly1574=)
| |
17 | g.63941562C>G | CA400615250 | SCN4A | c.4720G>C (p.Gly1574Arg)
| |
17 | g.63941562C>T | CA292956893 | SCN4A | c.4720G>A (p.Gly1574Ser)
| dbSNP gnomAD v4 |
17 | g.63941563G>A | CA8708907 | SCN4A | c.4719C>T (p.Ile1573=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941563G>C | CA400615258 | SCN4A | c.4719C>G (p.Ile1573Met)
| |
17 | g.63941563G= | CA2270160992 | SCN4A | c.4719C= (p.Ile1573=)
| |
17 | g.63941563G>T | CA501348130 | SCN4A | c.4719C>A (p.Ile1573=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941564A>C | CA400615261 | SCN4A | c.4718T>G (p.Ile1573Ser)
| |
17 | g.63941564A>G | CA400615263 | SCN4A | c.4718T>C (p.Ile1573Thr)
| |
17 | g.63941564A>T | CA400615266 | SCN4A | c.4718T>A (p.Ile1573Asn)
| |
17 | g.63941565T>A | CA400615269 | SCN4A | c.4717A>T (p.Ile1573Phe)
| |
17 | g.63941565T>C | CA8708908 | SCN4A | c.4717A>G (p.Ile1573Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941565T>G | CA400615273 | SCN4A | c.4717A>C (p.Ile1573Leu)
| |
17 | g.63941565T= | CA2270160993 | SCN4A | c.4717A= (p.Ile1573=)
| |
17 | g.63941566G>A | CA292956904 | SCN4A | c.4716C>T (p.Ser1572=)
| ClinVar dbSNP |
17 | g.63941566G>C | CA501348132 | SCN4A | c.4716C>G (p.Ser1572=)
| |
17 | g.63941566G= | CA2270160994 | SCN4A | c.4716C= (p.Ser1572=)
| |
17 | g.63941566G>T | CA501348133 | SCN4A | c.4716C>A (p.Ser1572=)
| |
17 | g.63941567G>A | CA400615276 | SCN4A | c.4715C>T (p.Ser1572Phe)
| |
17 | g.63941567G>C | CA400615278 | SCN4A | c.4715C>G (p.Ser1572Cys)
| |
17 | g.63941567G= | CA2270160995 | SCN4A | c.4715C= (p.Ser1572=)
| |
17 | g.63941567G>T | CA400615280 | SCN4A | c.4715C>A (p.Ser1572Tyr)
| dbSNP gnomAD v4 |
17 | g.63941568A>C | CA400615283 | SCN4A | c.4714T>G (p.Ser1572Ala)
| |
17 | g.63941568A>G | CA400615288 | SCN4A | c.4714T>C (p.Ser1572Pro)
| |
17 | g.63941568A>T | CA400615285 | SCN4A | c.4714T>A (p.Ser1572Thr)
| |
17 | g.63941569G>A | CA501348140 | SCN4A | c.4713C>T (p.Pro1571=)
| gnomAD v4 COSMIC |
17 | g.63941569G>C | CA8708909 | SCN4A | c.4713C>G (p.Pro1571=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941569G= | CA2270160996 | SCN4A | c.4713C= (p.Pro1571=)
| |
17 | g.63941569G>T | CA501348138 | SCN4A | c.4713C>A (p.Pro1571=)
| |
17 | g.63941572del | CA501348139 | SCN4A | c.4713del (p.Ser1572ProfsTer?)
| |
17 | g.63941570G>A | CA400615294 | SCN4A | c.4712C>T (p.Pro1571Leu)
| |
17 | g.63941570G>C | CA400615291 | SCN4A | c.4712C>G (p.Pro1571Arg)
| |
17 | g.63941570G>T | CA400615296 | SCN4A | c.4712C>A (p.Pro1571His)
| |
17 | g.63941571G>A | CA8708910 | SCN4A | c.4711C>T (p.Pro1571Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941571G>C | CA400615302 | SCN4A | c.4711C>G (p.Pro1571Ala)
| |
17 | g.63941571G= | CA2270160997 | SCN4A | c.4711C= (p.Pro1571=)
| |
17 | g.63941571G>T | CA400615300 | SCN4A | c.4711C>A (p.Pro1571Thr)
| |
17 | g.63941572G>A | CA501348143 | SCN4A | c.4710C>T (p.Asn1570=)
| |
17 | g.63941572G>C | CA400615304 | SCN4A | c.4710C>G (p.Asn1570Lys)
| |
17 | g.63941572G= | CA2270160998 | SCN4A | c.4710C= (p.Asn1570=)
| |
17 | g.63941572G>T | CA400615307 | SCN4A | c.4710C>A (p.Asn1570Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941573T>A | CA400615310 | SCN4A | c.4709A>T (p.Asn1570Ile)
| |
17 | g.63941573T>C | CA8708911 | SCN4A | c.4709A>G (p.Asn1570Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941573T>G | CA400615311 | SCN4A | c.4709A>C (p.Asn1570Thr)
| |
17 | g.63941573T= | CA2270160999 | SCN4A | c.4709A= (p.Asn1570=)
| |
17 | g.63941574T>A | CA400615316 | SCN4A | c.4708A>T (p.Asn1570Tyr)
| |
17 | g.63941574T>C | CA400615317 | SCN4A | c.4708A>G (p.Asn1570Asp)
| |
17 | g.63941574T>G | CA400615319 | SCN4A | c.4708A>C (p.Asn1570His)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941574T= | CA2270161000 | SCN4A | c.4708A= (p.Asn1570=)
| |
17 | g.63941575G>A | CA501348146 | SCN4A | c.4707C>T (p.Gly1569=)
| |
17 | g.63941575G>C | CA501348144 | SCN4A | c.4707C>G (p.Gly1569=)
| |
17 | g.63941575G>T | CA501348145 | SCN4A | c.4707C>A (p.Gly1569=)
| |
17 | g.63941576C>A | CA8708912 | SCN4A | c.4706G>T (p.Gly1569Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941576C= | CA2270161001 | SCN4A | c.4706G= (p.Gly1569=)
| |
17 | g.63941576C>G | CA400615322 | SCN4A | c.4706G>C (p.Gly1569Ala)
| |
17 | g.63941576C>T | CA400615325 | SCN4A | c.4706G>A (p.Gly1569Asp)
| |
17 | g.63941577C>A | CA400615332 | SCN4A | c.4705G>T (p.Gly1569Cys)
| |
17 | g.63941577C= | CA2270161002 | SCN4A | c.4705G= (p.Gly1569=)
| |
17 | g.63941577C>G | CA400615329 | SCN4A | c.4705G>C (p.Gly1569Arg)
| |
17 | g.63941577C>T | CA8708913 | SCN4A | c.4705G>A (p.Gly1569Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941578G>A | CA8708914 | SCN4A | c.4704C>T (p.Cys1568=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941578G>C | CA400615336 | SCN4A | c.4704C>G (p.Cys1568Trp)
| |
17 | g.63941578G= | CA2270161003 | SCN4A | c.4704C= (p.Cys1568=)
| |
17 | g.63941578G>T | CA400615338 | SCN4A | c.4704C>A (p.Cys1568Ter)
| dbSNP |
17 | g.63941579C>A | CA400615341 | SCN4A | c.4703G>T (p.Cys1568Phe)
| |
17 | g.63941579C>G | CA400615344 | SCN4A | c.4703G>C (p.Cys1568Ser)
| |
17 | g.63941579C>T | CA400615346 | SCN4A | c.4703G>A (p.Cys1568Tyr)
| |
17 | g.63941580A>C | CA400615349 | SCN4A | c.4702T>G (p.Cys1568Gly)
| |
17 | g.63941580A>G | CA400615354 | SCN4A | c.4702T>C (p.Cys1568Arg)
| |
17 | g.63941580A>T | CA400615352 | SCN4A | c.4702T>A (p.Cys1568Ser)
| |
17 | g.63941581G>A | CA501348155 | SCN4A | c.4701C>T (p.Asp1567=)
| |
17 | g.63941581G>C | CA400615357 | SCN4A | c.4701C>G (p.Asp1567Glu)
| |
17 | g.63941581G>T | CA400615359 | SCN4A | c.4701C>A (p.Asp1567Glu)
| |
17 | g.63941582T>A | CA400615362 | SCN4A | c.4700A>T (p.Asp1567Val)
| |
17 | g.63941582T>C | CA400615364 | SCN4A | c.4700A>G (p.Asp1567Gly)
| |
17 | g.63941582T>G | CA400615365 | SCN4A | c.4700A>C (p.Asp1567Ala)
| |
17 | g.63941583C>A | CA400615368 | SCN4A | c.4699G>T (p.Asp1567Tyr)
| gnomAD v4 |
17 | g.63941583C= | CA2270161004 | SCN4A | c.4699G= (p.Asp1567=)
| |
17 | g.63941583C>G | CA400615370 | SCN4A | c.4699G>C (p.Asp1567His)
| |
17 | g.63941583C>T | CA8708915 | SCN4A | c.4699G>A (p.Asp1567Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941584A>C | CA501348158 | SCN4A | c.4698T>G (p.Gly1566=)
| |
17 | g.63941584A>G | CA501348159 | SCN4A | c.4698T>C (p.Gly1566=)
| |
17 | g.63941584A>T | CA501348160 | SCN4A | c.4698T>A (p.Gly1566=)
| |
17 | g.63941585C>A | CA400615375 | SCN4A | c.4697G>T (p.Gly1566Val)
| |
17 | g.63941585C>G | CA400615377 | SCN4A | c.4697G>C (p.Gly1566Ala)
| |
17 | g.63941585C>T | CA400615380 | SCN4A | c.4697G>A (p.Gly1566Asp)
| |
17 | g.63941586C>A | CA400615387 | SCN4A | c.4696G>T (p.Gly1566Cys)
| |
17 | g.63941586C= | CA2270161005 | SCN4A | c.4696G= (p.Gly1566=)
| |
17 | g.63941586C>G | CA400615383 | SCN4A | c.4696G>C (p.Gly1566Arg)
| |
17 | g.63941586C>T | CA400615385 | SCN4A | c.4696G>A (p.Gly1566Ser)
| ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.63941587C>A | CA400615389 | SCN4A | c.4695G>T (p.Lys1565Asn)
| |
17 | g.63941587C= | CA2270161006 | SCN4A | c.4695G= (p.Lys1565=)
| |
17 | g.63941587C>G | CA400615391 | SCN4A | c.4695G>C (p.Lys1565Asn)
| |
17 | g.63941587C>T | CA501348161 | SCN4A | c.4695G>A (p.Lys1565=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941588T>A | CA400615394 | SCN4A | c.4694A>T (p.Lys1565Met)
| |
17 | g.63941588T>C | CA400615396 | SCN4A | c.4694A>G (p.Lys1565Arg)
| |
17 | g.63941588T>G | CA400615398 | SCN4A | c.4694A>C (p.Lys1565Thr)
| |
17 | g.63941589T>A | CA400615401 | SCN4A | c.4693A>T (p.Lys1565Ter)
| dbSNP |
17 | g.63941589T>C | CA400615402 | SCN4A | c.4693A>G (p.Lys1565Glu)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941589T>G | CA400615405 | SCN4A | c.4693A>C (p.Lys1565Gln)
| |
17 | g.63941589T= | CA2270161007 | SCN4A | c.4693A= (p.Lys1565=)
| |
17 | g.63941590G>A | CA501348166 | SCN4A | c.4692C>T (p.Val1564=)
| ClinVar gnomAD v4 |
17 | g.63941590G>C | CA501348167 | SCN4A | c.4692C>G (p.Val1564=)
| |
17 | g.63941590G>T | CA501348165 | SCN4A | c.4692C>A (p.Val1564=)
| |
17 | g.63941591A>C | CA400615407 | SCN4A | c.4691T>G (p.Val1564Gly)
| |
17 | g.63941591A>G | CA400615409 | SCN4A | c.4691T>C (p.Val1564Ala)
| |
17 | g.63941591A>T | CA400615411 | SCN4A | c.4691T>A (p.Val1564Asp)
| |
17 | g.63941592C>A | CA400615414 | SCN4A | c.4690G>T (p.Val1564Phe)
| |
17 | g.63941592C= | CA2270161008 | SCN4A | c.4690G= (p.Val1564=)
| |
17 | g.63941592C>G | CA400615416 | SCN4A | c.4690G>C (p.Val1564Leu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941592C>T | CA205612 | SCN4A | c.4690G>A (p.Val1564Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941592_63941595del | CA2810127879 | SCN4A | c.4687_4690del (p.Val1564ArgfsTer?)
| |
17 | g.63941593A>C | CA400615421 | SCN4A | c.4689T>G (p.Ser1563Arg)
| |
17 | g.63941593A>G | CA501348171 | SCN4A | c.4689T>C (p.Ser1563=)
| gnomAD v4 |
17 | g.63941593A>T | CA400615422 | SCN4A | c.4689T>A (p.Ser1563Arg)
| |
17 | g.63941594C>A | CA400615425 | SCN4A | c.4688G>T (p.Ser1563Ile)
| |
17 | g.63941594C= | CA2270161009 | SCN4A | c.4688G= (p.Ser1563=)
| |
17 | g.63941594C>G | CA400615427 | SCN4A | c.4688G>C (p.Ser1563Thr)
| |
17 | g.63941594C>T | CA8708916 | SCN4A | c.4688G>A (p.Ser1563Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941595T>A | CA400615431 | SCN4A | c.4687A>T (p.Ser1563Cys)
| |
17 | g.63941595T>C | CA400615433 | SCN4A | c.4687A>G (p.Ser1563Gly)
| |
17 | g.63941595T>G | CA400615435 | SCN4A | c.4687A>C (p.Ser1563Arg)
| |
17 | g.63941596G>A | CA501348230 | SCN4A | c.4686C>T (p.Thr1562=)
| |
17 | g.63941596G>C | CA501348229 | SCN4A | c.4686C>G (p.Thr1562=)
| gnomAD v4 |
17 | g.63941596G>T | CA501348228 | SCN4A | c.4686C>A (p.Thr1562=)
| |
17 | g.63941597G>A | CA400615439 | SCN4A | c.4685C>T (p.Thr1562Ile)
| gnomAD v4 |
17 | g.63941597G>C | CA400615441 | SCN4A | c.4685C>G (p.Thr1562Ser)
| |
17 | g.63941597G>T | CA400615444 | SCN4A | c.4685C>A (p.Thr1562Asn)
| |
17 | g.63941598T>A | CA400615447 | SCN4A | c.4684A>T (p.Thr1562Ser)
| |
17 | g.63941598T>C | CA400615449 | SCN4A | c.4684A>G (p.Thr1562Ala)
| |
17 | g.63941598T>G | CA400615452 | SCN4A | c.4684A>C (p.Thr1562Pro)
| |
17 | g.63941599G>A | CA501348234 | SCN4A | c.4683C>T (p.Gly1561=)
| |
17 | g.63941599G>C | CA501348235 | SCN4A | c.4683C>G (p.Gly1561=)
| |
17 | g.63941599G>T | CA501348237 | SCN4A | c.4683C>A (p.Gly1561=)
| gnomAD v4 |
17 | g.63941600C>A | CA400615454 | SCN4A | c.4682G>T (p.Gly1561Val)
| |
17 | g.63941600C>G | CA400615458 | SCN4A | c.4682G>C (p.Gly1561Ala)
| |
17 | g.63941600C>T | CA400615456 | SCN4A | c.4682G>A (p.Gly1561Asp)
| |
17 | g.63941601C>A | CA400615461 | SCN4A | c.4681G>T (p.Gly1561Cys)
| |
17 | g.63941601C>G | CA400615466 | SCN4A | c.4681G>C (p.Gly1561Arg)
| |
17 | g.63941601C>T | CA400615463 | SCN4A | c.4681G>A (p.Gly1561Ser)
| |
17 | g.63941602C>A | CA501348238 | SCN4A | c.4680G>T (p.Pro1560=)
| |
17 | g.63941602C= | CA2270161010 | SCN4A | c.4680G= (p.Pro1560=)
| |
17 | g.63941602C>G | CA501348239 | SCN4A | c.4680G>C (p.Pro1560=)
| |
17 | g.63941602C>T | CA8708917 | SCN4A | c.4680G>A (p.Pro1560=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |