17 | g.63941803_63941814delinsTATGACCAGGAG | CA2695226829 | SCN4A | c.4468_4479delinsCTCCTGGTCATA (p.Phe1490_Met1493delinsLeuLeuValIle)
| |
17 | g.63941811G>A | CA501348278 | SCN4A | c.4471C>T (p.Leu1491=)
| |
17 | g.63941811G>C | CA400615955 | SCN4A | c.4471C>G (p.Leu1491Val)
| gnomAD v4 |
17 | g.63941811G= | CA2270161112 | SCN4A | c.4471C= (p.Leu1491=)
| |
17 | g.63941811G>T | CA400615956 | SCN4A | c.4471C>A (p.Leu1491Met)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941812G>A | CA501348279 | SCN4A | c.4470C>T (p.Phe1490=)
| |
17 | g.63941812G>C | CA400615957 | SCN4A | c.4470C>G (p.Phe1490Leu)
| |
17 | g.63941812G>T | CA400615958 | SCN4A | c.4470C>A (p.Phe1490Leu)
| |
17 | g.63941813A>C | CA400615959 | SCN4A | c.4469T>G (p.Phe1490Cys)
| |
17 | g.63941813A>G | CA400615960 | SCN4A | c.4469T>C (p.Phe1490Ser)
| |
17 | g.63941813A>T | CA400615961 | SCN4A | c.4469T>A (p.Phe1490Tyr)
| |
17 | g.63941814A= | CA2270161113 | SCN4A | c.4468T= (p.Phe1490=)
| |
17 | g.63941814A>C | CA400615962 | SCN4A | c.4468T>G (p.Phe1490Val)
| |
17 | g.63941814A>G | CA341675 | SCN4A | c.4468T>C (p.Phe1490Leu)
| dbSNP |
17 | g.63941814A>T | CA400615963 | SCN4A | c.4468T>A (p.Phe1490Ile)
| |
17 | g.63941815G>A | CA8708954 | SCN4A | c.4467C>T (p.Leu1489=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941815G>C | CA501348286 | SCN4A | c.4467C>G (p.Leu1489=)
| |
17 | g.63941815G= | CA2270161114 | SCN4A | c.4467C= (p.Leu1489=)
| |
17 | g.63941815G>T | CA501348285 | SCN4A | c.4467C>A (p.Leu1489=)
| |
17 | g.63941822_63941824del | CA2639307323 | SCN4A | c.4465_4467del (p.Leu1489del)
| gnomAD v4 |
17 | g.63941816A>C | CA400615964 | SCN4A | c.4466T>G (p.Leu1489Arg)
| |
17 | g.63941816A>G | CA400615965 | SCN4A | c.4466T>C (p.Leu1489Pro)
| |
17 | g.63941816A>T | CA400615966 | SCN4A | c.4466T>A (p.Leu1489His)
| |
17 | g.63941817G>A | CA400615968 | SCN4A | c.4465C>T (p.Leu1489Phe)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941817G>C | CA400615969 | SCN4A | c.4465C>G (p.Leu1489Val)
| |
17 | g.63941817G= | CA2270161115 | SCN4A | c.4465C= (p.Leu1489=)
| |
17 | g.63941817G>T | CA400615967 | SCN4A | c.4465C>A (p.Leu1489Ile)
| |
17 | g.63941818G>A | CA8708955 | SCN4A | c.4464C>T (p.Leu1488=)
| ClinVar dbSNP ExAC gnomAD v2 |
17 | g.63941818G>C | CA292957157 | SCN4A | c.4464C>G (p.Leu1488=)
| dbSNP gnomAD v4 |
17 | g.63941818G= | CA2270161116 | SCN4A | c.4464C= (p.Leu1488=)
| |
17 | g.63941818G>T | CA501348292 | SCN4A | c.4464C>A (p.Leu1488=)
| |
17 | g.63941819A= | CA2270161117 | SCN4A | c.4463T= (p.Leu1488=)
| |
17 | g.63941819A>C | CA400615970 | SCN4A | c.4463T>G (p.Leu1488Arg)
| |
17 | g.63941819A>G | CA16607427 | SCN4A | c.4463T>C (p.Leu1488Pro)
| ClinVar dbSNP |
17 | g.63941819A>T | CA400615971 | SCN4A | c.4463T>A (p.Leu1488His)
| gnomAD v4 |
17 | g.63941820G>A | CA400615972 | SCN4A | c.4462C>T (p.Leu1488Phe)
| |
17 | g.63941820G>C | CA400615973 | SCN4A | c.4462C>G (p.Leu1488Val)
| |
17 | g.63941820G>T | CA400615974 | SCN4A | c.4462C>A (p.Leu1488Ile)
| |
17 | g.63941821del | CA2810127902 | SCN4A | c.4462del (p.Leu1488SerfsTer?)
| |
17 | g.63941821G>A | CA501348296 | SCN4A | c.4461C>T (p.Leu1487=)
| COSMIC |
17 | g.63941821G>C | CA501348297 | SCN4A | c.4461C>G (p.Leu1487=)
| |
17 | g.63941821G>T | CA501348298 | SCN4A | c.4461C>A (p.Leu1487=)
| |
17 | g.63941822A>C | CA400615975 | SCN4A | c.4460T>G (p.Leu1487Arg)
| |
17 | g.63941822A>G | CA400615976 | SCN4A | c.4460T>C (p.Leu1487Pro)
| |
17 | g.63941822A>T | CA400615977 | SCN4A | c.4460T>A (p.Leu1487His)
| |
17 | g.63941823G>A | CA400615978 | SCN4A | c.4459C>T (p.Leu1487Phe)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941823G>C | CA400615979 | SCN4A | c.4459C>G (p.Leu1487Val)
| |
17 | g.63941823G= | CA2270161118 | SCN4A | c.4459C= (p.Leu1487=)
| |
17 | g.63941823G>T | CA400615980 | SCN4A | c.4459C>A (p.Leu1487Ile)
| |
17 | g.63941824G>A | CA292957162 | SCN4A | c.4458C>T (p.Gly1486=)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941824G>C | CA501348302 | SCN4A | c.4458C>G (p.Gly1486=)
| |
17 | g.63941824G= | CA2270161119 | SCN4A | c.4458C= (p.Gly1486=)
| |
17 | g.63941824G>T | CA501348303 | SCN4A | c.4458C>A (p.Gly1486=)
| |
17 | g.63941825C>A | CA400615981 | SCN4A | c.4457G>T (p.Gly1486Val)
| ClinVar dbSNP |
17 | g.63941825C= | CA2270161120 | SCN4A | c.4457G= (p.Gly1486=)
| |
17 | g.63941825C>G | CA400615982 | SCN4A | c.4457G>C (p.Gly1486Ala)
| |
17 | g.63941825C>T | CA400615983 | SCN4A | c.4457G>A (p.Gly1486Asp)
| dbSNP |
17 | g.63941826C>A | CA400615984 | SCN4A | c.4456G>T (p.Gly1486Cys)
| |
17 | g.63941826C>G | CA400615985 | SCN4A | c.4456G>C (p.Gly1486Arg)
| |
17 | g.63941826C>T | CA400615986 | SCN4A | c.4456G>A (p.Gly1486Ser)
| ClinVar gnomAD v4 |
17 | g.63941827G>A | CA8708956 | SCN4A | c.4455C>T (p.Ile1485=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941827G>C | CA400615987 | SCN4A | c.4455C>G (p.Ile1485Met)
| dbSNP |
17 | g.63941827G= | CA2270161121 | SCN4A | c.4455C= (p.Ile1485=)
| |
17 | g.63941827G>T | CA501348306 | SCN4A | c.4455C>A (p.Ile1485=)
| |
17 | g.63941828A>C | CA400615988 | SCN4A | c.4454T>G (p.Ile1485Ser)
| |
17 | g.63941828A>G | CA400615989 | SCN4A | c.4454T>C (p.Ile1485Thr)
| |
17 | g.63941828A>T | CA400615990 | SCN4A | c.4454T>A (p.Ile1485Asn)
| |
17 | g.63941829T>A | CA400615991 | SCN4A | c.4453A>T (p.Ile1485Phe)
| |
17 | g.63941829T>C | CA400615992 | SCN4A | c.4453A>G (p.Ile1485Val)
| |
17 | g.63941829T>G | CA400615993 | SCN4A | c.4453A>C (p.Ile1485Leu)
| |
17 | g.63941830G>A | CA8708957 | SCN4A | c.4452C>T (p.Asn1484=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941830G>C | CA400615995 | SCN4A | c.4452C>G (p.Asn1484Lys)
| |
17 | g.63941830G= | CA2270161122 | SCN4A | c.4452C= (p.Asn1484=)
| |
17 | g.63941830G>T | CA400615994 | SCN4A | c.4452C>A (p.Asn1484Lys)
| |
17 | g.63941831T>A | CA400615997 | SCN4A | c.4451A>T (p.Asn1484Ile)
| |
17 | g.63941831T>C | CA400615996 | SCN4A | c.4451A>G (p.Asn1484Ser)
| |
17 | g.63941831T>G | CA400615998 | SCN4A | c.4451A>C (p.Asn1484Thr)
| |
17 | g.63941832T>A | CA400615999 | SCN4A | c.4450A>T (p.Asn1484Tyr)
| |
17 | g.63941832T>C | CA400616001 | SCN4A | c.4450A>G (p.Asn1484Asp)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941832T>G | CA400616000 | SCN4A | c.4450A>C (p.Asn1484His)
| |
17 | g.63941832T= | CA2270161123 | SCN4A | c.4450A= (p.Asn1484=)
| |
17 | g.63941833G>A | CA501348311 | SCN4A | c.4449C>T (p.Phe1483=)
| |
17 | g.63941833G>C | CA400616002 | SCN4A | c.4449C>G (p.Phe1483Leu)
| dbSNP |
17 | g.63941833G>T | CA400616003 | SCN4A | c.4449C>A (p.Phe1483Leu)
| |
17 | g.63941834A>C | CA400616004 | SCN4A | c.4448T>G (p.Phe1483Cys)
| |
17 | g.63941834A>G | CA400616005 | SCN4A | c.4448T>C (p.Phe1483Ser)
| |
17 | g.63941834A>T | CA400616006 | SCN4A | c.4448T>A (p.Phe1483Tyr)
| |
17 | g.63941835A>C | CA400616007 | SCN4A | c.4447T>G (p.Phe1483Val)
| |
17 | g.63941835A>G | CA400616008 | SCN4A | c.4447T>C (p.Phe1483Leu)
| |
17 | g.63941835A>T | CA400616009 | SCN4A | c.4447T>A (p.Phe1483Ile)
| |
17 | g.63941836G>A | CA501348320 | SCN4A | c.4446C>T (p.Leu1482=)
| dbSNP |
17 | g.63941836G>C | CA501348318 | SCN4A | c.4446C>G (p.Leu1482=)
| |
17 | g.63941836G= | CA2270161124 | SCN4A | c.4446C= (p.Leu1482=)
| |
17 | g.63941836G>T | CA501348317 | SCN4A | c.4446C>A (p.Leu1482=)
| |
17 | g.63941837A= | CA2270161125 | SCN4A | c.4445T= (p.Leu1482=)
| |
17 | g.63941837A>C | CA400616010 | SCN4A | c.4445T>G (p.Leu1482Arg)
| |
17 | g.63941837A>G | CA400616011 | SCN4A | c.4445T>C (p.Leu1482Pro)
| |
17 | g.63941837A>T | CA400616012 | SCN4A | c.4445T>A (p.Leu1482His)
| |
17 | g.63941837_63941838insTGACTTT | CA8708959 | SCN4A | c.4444_4445insAAAGTCA (p.Leu1482GlnfsTer?)
| dbSNP ExAC gnomAD v2 |
17 | g.63941837_63941838insTGACTTTGAGAT | CA8708958 | SCN4A | c.4444_4445insATCTCAAAGTCA (p.Leu1482delinsHisLeuLysValIle)
| dbSNP ExAC gnomAD v2 |
17 | g.63941838G>A | CA400616013 | SCN4A | c.4444C>T (p.Leu1482Phe)
| dbSNP gnomAD v2 |
17 | g.63941838G>C | CA400616014 | SCN4A | c.4444C>G (p.Leu1482Val)
| dbSNP |
17 | g.63941838G= | CA2270161126 | SCN4A | c.4444C= (p.Leu1482=)
| |
17 | g.63941838G>T | CA8708960 | SCN4A | c.4444C>A (p.Leu1482Ile)
| dbSNP ExAC gnomAD v2 |
17 | g.63941839G>A | CA292957207 | SCN4A | c.4443C>T (p.Ala1481=)
| dbSNP |
17 | g.63941839G>C | CA501348328 | SCN4A | c.4443C>G (p.Ala1481=)
| |
17 | g.63941839G= | CA2270161127 | SCN4A | c.4443C= (p.Ala1481=)
| |
17 | g.63941839G>T | CA501348329 | SCN4A | c.4443C>A (p.Ala1481=)
| |
17 | g.63941840G>A | CA8708961 | SCN4A | c.4442C>T (p.Ala1481Val)
| dbSNP ExAC gnomAD v2 |
17 | g.63941840G>C | CA400616015 | SCN4A | c.4442C>G (p.Ala1481Gly)
| |
17 | g.63941840G= | CA2270161128 | SCN4A | c.4442C= (p.Ala1481=)
| |
17 | g.63941840G>T | CA400616016 | SCN4A | c.4442C>A (p.Ala1481Asp)
| ClinVar dbSNP |
17 | g.63941841C>A | CA400616017 | SCN4A | c.4441G>T (p.Ala1481Ser)
| |
17 | g.63941841C= | CA2270161129 | SCN4A | c.4441G= (p.Ala1481=)
| |
17 | g.63941841C>G | CA400616018 | SCN4A | c.4441G>C (p.Ala1481Pro)
| |
17 | g.63941841C>T | CA400616019 | SCN4A | c.4441G>A (p.Ala1481Thr)
| |
17 | g.63941841_63941842insTTTG | CA8708962 | SCN4A | c.4440_4441insCAAA (p.Ala1481GlnfsTer?)
| dbSNP ExAC gnomAD v2 |
17 | g.63941842A= | CA2270161130 | SCN4A | c.4440T= (p.Pro1480=)
| |
17 | g.63941842A>C | CA501348335 | SCN4A | c.4440T>G (p.Pro1480=)
| dbSNP |
17 | g.63941842A>G | CA501348336 | SCN4A | c.4440T>C (p.Pro1480=)
| dbSNP |
17 | g.63941842A>T | CA501348338 | SCN4A | c.4440T>A (p.Pro1480=)
| |
17 | g.63941843G>A | CA400616020 | SCN4A | c.4439C>T (p.Pro1480Leu)
| |
17 | g.63941843G>C | CA400616021 | SCN4A | c.4439C>G (p.Pro1480Arg)
| |
17 | g.63941843G= | CA2270161131 | SCN4A | c.4439C= (p.Pro1480=)
| |
17 | g.63941843G>T | CA400616022 | SCN4A | c.4439C>A (p.Pro1480His)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941844G>A | CA400616025 | SCN4A | c.4438C>T (p.Pro1480Ser)
| |
17 | g.63941844G>C | CA400616024 | SCN4A | c.4438C>G (p.Pro1480Ala)
| |
17 | g.63941844G>T | CA400616023 | SCN4A | c.4438C>A (p.Pro1480Thr)
| |
17 | g.63941845C>A | CA501348343 | SCN4A | c.4437G>T (p.Leu1479=)
| |
17 | g.63941845C>G | CA501348345 | SCN4A | c.4437G>C (p.Leu1479=)
| |
17 | g.63941845C>T | CA501348346 | SCN4A | c.4437G>A (p.Leu1479=)
| |
17 | g.63941846A>C | CA400616026 | SCN4A | c.4436T>G (p.Leu1479Arg)
| |
17 | g.63941846A>G | CA400616027 | SCN4A | c.4436T>C (p.Leu1479Pro)
| |
17 | g.63941846A>T | CA400616028 | SCN4A | c.4436T>A (p.Leu1479Gln)
| |
17 | g.63941847G>A | CA501348347 | SCN4A | c.4435C>T (p.Leu1479=)
| |
17 | g.63941847G>C | CA400616029 | SCN4A | c.4435C>G (p.Leu1479Val)
| |
17 | g.63941847G>T | CA400616030 | SCN4A | c.4435C>A (p.Leu1479Met)
| ClinVar gnomAD v4 |
17 | g.63941848C>A | CA501348348 | SCN4A | c.4434G>T (p.Ser1478=)
| gnomAD v4 |
17 | g.63941848C= | CA2270161132 | SCN4A | c.4434G= (p.Ser1478=)
| |
17 | g.63941848C>G | CA292957219 | SCN4A | c.4434G>C (p.Ser1478=)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941848C>T | CA242396 | SCN4A | c.4434G>A (p.Ser1478=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941849G>A | CA8708963 | SCN4A | c.4433C>T (p.Ser1478Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941849G>C | CA400616031 | SCN4A | c.4433C>G (p.Ser1478Trp)
| |
17 | g.63941849G= | CA2270161133 | SCN4A | c.4433C= (p.Ser1478=)
| |
17 | g.63941849G>T | CA400616032 | SCN4A | c.4433C>A (p.Ser1478Ter)
| dbSNP |
17 | g.63941850A= | CA2270161134 | SCN4A | c.4432T= (p.Ser1478=)
| |
17 | g.63941850A>C | CA400616033 | SCN4A | c.4432T>G (p.Ser1478Ala)
| |
17 | g.63941850A>G | CA400616034 | SCN4A | c.4432T>C (p.Ser1478Pro)
| dbSNP gnomAD v4 |
17 | g.63941850A>T | CA400616035 | SCN4A | c.4432T>A (p.Ser1478Thr)
| |
17 | g.63941851C>A | CA400616038 | SCN4A | c.4431G>T (p.Met1477Ile)
| |
17 | g.63941851C>G | CA400616037 | SCN4A | c.4431G>C (p.Met1477Ile)
| |
17 | g.63941851C>T | CA400616036 | SCN4A | c.4431G>A (p.Met1477Ile)
| gnomAD v4 |
17 | g.63941852A>C | CA400616039 | SCN4A | c.4430T>G (p.Met1477Arg)
| |
17 | g.63941852A>G | CA400616040 | SCN4A | c.4430T>C (p.Met1477Thr)
| ClinVar dbSNP |
17 | g.63941852A>T | CA400616041 | SCN4A | c.4430T>A (p.Met1477Lys)
| |
17 | g.63941853T>A | CA400616042 | SCN4A | c.4429A>T (p.Met1477Leu)
| gnomAD v4 |
17 | g.63941853T>C | CA400616043 | SCN4A | c.4429A>G (p.Met1477Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941853T>G | CA400616044 | SCN4A | c.4429A>C (p.Met1477Leu)
| |
17 | g.63941853T= | CA2270161135 | SCN4A | c.4429A= (p.Met1477=)
| |
17 | g.63941854C>A | CA400616045 | SCN4A | c.4428G>T (p.Met1476Ile)
| |
17 | g.63941854C= | CA2270161136 | SCN4A | c.4428G= (p.Met1476=)
| |
17 | g.63941854C>G | CA400616046 | SCN4A | c.4428G>C (p.Met1476Ile)
| |
17 | g.63941854C>T | CA117853 | SCN4A | c.4428G>A (p.Met1476Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941855A= | CA2270161137 | SCN4A | c.4427T= (p.Met1476=)
| |
17 | g.63941855A>C | CA400616047 | SCN4A | c.4427T>G (p.Met1476Arg)
| |
17 | g.63941855A>G | CA16620554 | SCN4A | c.4427T>C (p.Met1476Thr)
| ClinVar dbSNP |
17 | g.63941855A>T | CA400616048 | SCN4A | c.4427T>A (p.Met1476Lys)
| |
17 | g.63941856T>A | CA400616051 | SCN4A | c.4426A>T (p.Met1476Leu)
| |
17 | g.63941856T>C | CA400616050 | SCN4A | c.4426A>G (p.Met1476Val)
| ClinVar dbSNP |
17 | g.63941856T>G | CA400616049 | SCN4A | c.4426A>C (p.Met1476Leu)
| |
17 | g.63941856T= | CA2270161138 | SCN4A | c.4426A= (p.Met1476=)
| |
17 | g.63941857G>A | CA501348438 | SCN4A | c.4425C>T (p.Leu1475=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941857G>C | CA501348440 | SCN4A | c.4425C>G (p.Leu1475=)
| |
17 | g.63941857G= | CA2270161139 | SCN4A | c.4425C= (p.Leu1475=)
| |
17 | g.63941857G>T | CA501348439 | SCN4A | c.4425C>A (p.Leu1475=)
| |
17 | g.63941858A>C | CA400616052 | SCN4A | c.4424T>G (p.Leu1475Arg)
| |
17 | g.63941858A>G | CA400616054 | SCN4A | c.4424T>C (p.Leu1475Pro)
| ClinVar |
17 | g.63941858A>T | CA400616053 | SCN4A | c.4424T>A (p.Leu1475His)
| |
17 | g.63941859G>A | CA400616055 | SCN4A | c.4423C>T (p.Leu1475Phe)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941859G>C | CA400616056 | SCN4A | c.4423C>G (p.Leu1475Val)
| |
17 | g.63941859G= | CA2270161140 | SCN4A | c.4423C= (p.Leu1475=)
| |
17 | g.63941859G>T | CA400616057 | SCN4A | c.4423C>A (p.Leu1475Ile)
| |
17 | g.63941860G>A | CA501348441 | SCN4A | c.4422C>T (p.Ala1474=)
| gnomAD v4 |
17 | g.63941860G>C | CA501348442 | SCN4A | c.4422C>G (p.Ala1474=)
| |
17 | g.63941860G>T | CA501348443 | SCN4A | c.4422C>A (p.Ala1474=)
| |
17 | g.63941861G>A | CA400616058 | SCN4A | c.4421C>T (p.Ala1474Val)
| |
17 | g.63941861G>C | CA400616059 | SCN4A | c.4421C>G (p.Ala1474Gly)
| |
17 | g.63941861G>T | CA400616060 | SCN4A | c.4421C>A (p.Ala1474Asp)
| |
17 | g.63941862C>A | CA400616061 | SCN4A | c.4420G>T (p.Ala1474Ser)
| gnomAD v4 |
17 | g.63941862C= | CA2270161141 | SCN4A | c.4420G= (p.Ala1474=)
| |
17 | g.63941862C>G | CA400616062 | SCN4A | c.4420G>C (p.Ala1474Pro)
| |
17 | g.63941862C>T | CA8708964 | SCN4A | c.4420G>A (p.Ala1474Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941863del | CA2639307363 | SCN4A | c.4419del (p.Phe1473LeufsTer4)
| gnomAD v4 |
17 | g.63941863G>A | CA8708965 | SCN4A | c.4419C>T (p.Phe1473=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941863G>C | CA400616063 | SCN4A | c.4419C>G (p.Phe1473Leu)
| |
17 | g.63941863G= | CA2270161142 | SCN4A | c.4419C= (p.Phe1473=)
| |
17 | g.63941863G>T | CA400616064 | SCN4A | c.4419C>A (p.Phe1473Leu)
| |
17 | g.63941864A>C | CA400616067 | SCN4A | c.4418T>G (p.Phe1473Cys)
| |
17 | g.63941864A>G | CA400616065 | SCN4A | c.4418T>C (p.Phe1473Ser)
| ClinVar |
17 | g.63941864A>T | CA400616066 | SCN4A | c.4418T>A (p.Phe1473Tyr)
| |
17 | g.63941865A>C | CA400616068 | SCN4A | c.4417T>G (p.Phe1473Val)
| |
17 | g.63941865A>G | CA400616069 | SCN4A | c.4417T>C (p.Phe1473Leu)
| |
17 | g.63941865A>T | CA400616070 | SCN4A | c.4417T>A (p.Phe1473Ile)
| |
17 | g.63941866C>A | CA501348445 | SCN4A | c.4416G>T (p.Leu1472=)
| |
17 | g.63941866C= | CA2270161143 | SCN4A | c.4416G= (p.Leu1472=)
| |
17 | g.63941866C>G | CA501348446 | SCN4A | c.4416G>C (p.Leu1472=)
| |
17 | g.63941866C>T | CA8708966 | SCN4A | c.4416G>A (p.Leu1472=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941867A= | CA2270161144 | SCN4A | c.4415T= (p.Leu1472=)
| |
17 | g.63941867A>C | CA400616071 | SCN4A | c.4415T>G (p.Leu1472Arg)
| |
17 | g.63941867A>G | CA16603311 | SCN4A | c.4415T>C (p.Leu1472Pro)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941867A>T | CA400616072 | SCN4A | c.4415T>A (p.Leu1472Gln)
| |
17 | g.63941868G>A | CA501348448 | SCN4A | c.4414C>T (p.Leu1472=)
| gnomAD v4 |
17 | g.63941868G>C | CA400616073 | SCN4A | c.4414C>G (p.Leu1472Val)
| |
17 | g.63941868G= | CA2270161145 | SCN4A | c.4414C= (p.Leu1472=)
| |
17 | g.63941868G>T | CA400616074 | SCN4A | c.4414C>A (p.Leu1472Met)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941869C>A | CA501348449 | SCN4A | c.4413G>T (p.Leu1471=)
| |
17 | g.63941869C>G | CA501348450 | SCN4A | c.4413G>C (p.Leu1471=)
| |
17 | g.63941869C>T | CA501348451 | SCN4A | c.4413G>A (p.Leu1471=)
| |
17 | g.63941870A>C | CA400616075 | SCN4A | c.4412T>G (p.Leu1471Arg)
| |
17 | g.63941870A>G | CA400616076 | SCN4A | c.4412T>C (p.Leu1471Pro)
| |
17 | g.63941870A>T | CA400616077 | SCN4A | c.4412T>A (p.Leu1471Gln)
| gnomAD v4 |
17 | g.63941871G>A | CA501348452 | SCN4A | c.4411C>T (p.Leu1471=)
| |
17 | g.63941871G>C | CA400616078 | SCN4A | c.4411C>G (p.Leu1471Val)
| |
17 | g.63941871G>T | CA400616079 | SCN4A | c.4411C>A (p.Leu1471Met)
| |
17 | g.63941872C>A | CA8708967 | SCN4A | c.4410G>T (p.Thr1470=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941872C= | CA2270161146 | SCN4A | c.4410G= (p.Thr1470=)
| |
17 | g.63941872C>G | CA501348455 | SCN4A | c.4410G>C (p.Thr1470=)
| dbSNP |
17 | g.63941872C>T | CA8708968 | SCN4A | c.4410G>A (p.Thr1470=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941873G>A | CA8708969 | SCN4A | c.4409C>T (p.Thr1470Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941873G>C | CA400616080 | SCN4A | c.4409C>G (p.Thr1470Arg)
| |
17 | g.63941873G= | CA2270161147 | SCN4A | c.4409C= (p.Thr1470=)
| |
17 | g.63941873G>T | CA400616081 | SCN4A | c.4409C>A (p.Thr1470Lys)
| dbSNP |
17 | g.63941874T>A | CA400616084 | SCN4A | c.4408A>T (p.Thr1470Ser)
| |
17 | g.63941874T>C | CA400616083 | SCN4A | c.4408A>G (p.Thr1470Ala)
| |
17 | g.63941874T>G | CA400616082 | SCN4A | c.4408A>C (p.Thr1470Pro)
| gnomAD v4 |
17 | g.63941875C>A | CA501348457 | SCN4A | c.4407G>T (p.Arg1469=)
| |
17 | g.63941875C= | CA2270161148 | SCN4A | c.4407G= (p.Arg1469=)
| |
17 | g.63941875C>G | CA501348458 | SCN4A | c.4407G>C (p.Arg1469=)
| |
17 | g.63941875C>T | CA292957260 | SCN4A | c.4407G>A (p.Arg1469=)
| dbSNP |
17 | g.63941876C>A | CA400616085 | SCN4A | c.4406G>T (p.Arg1469Leu)
| |
17 | g.63941876C= | CA2270161149 | SCN4A | c.4406G= (p.Arg1469=)
| |
17 | g.63941876C>G | CA400616086 | SCN4A | c.4406G>C (p.Arg1469Pro)
| |
17 | g.63941876C>T | CA292957261 | SCN4A | c.4406G>A (p.Arg1469Gln)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941877G>A | CA8708970 | SCN4A | c.4405C>T (p.Arg1469Trp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941877G>C | CA400616087 | SCN4A | c.4405C>G (p.Arg1469Gly)
| |
17 | g.63941877G= | CA2270161150 | SCN4A | c.4405C= (p.Arg1469=)
| |
17 | g.63941877G>T | CA501348462 | SCN4A | c.4405C>A (p.Arg1469=)
| gnomAD v4 |
17 | g.63941878G>A | CA501348464 | SCN4A | c.4404C>T (p.Ile1468=)
| dbSNP gnomAD v4 |
17 | g.63941878G>C | CA400616088 | SCN4A | c.4404C>G (p.Ile1468Met)
| |
17 | g.63941878G= | CA2270161151 | SCN4A | c.4404C= (p.Ile1468=)
| |
17 | g.63941878G>T | CA501348463 | SCN4A | c.4404C>A (p.Ile1468=)
| |
17 | g.63941879A>C | CA400616089 | SCN4A | c.4403T>G (p.Ile1468Ser)
| |
17 | g.63941879A>G | CA400616091 | SCN4A | c.4403T>C (p.Ile1468Thr)
| |
17 | g.63941879A>T | CA400616090 | SCN4A | c.4403T>A (p.Ile1468Asn)
| |
17 | g.63941880T>A | CA400616092 | SCN4A | c.4402A>T (p.Ile1468Phe)
| |
17 | g.63941880T>C | CA8708971 | SCN4A | c.4402A>G (p.Ile1468Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941880T>G | CA400616093 | SCN4A | c.4402A>C (p.Ile1468Leu)
| |
17 | g.63941880T= | CA2270161152 | SCN4A | c.4402A= (p.Ile1468=)
| |
17 | g.63941881G>A | CA501348467 | SCN4A | c.4401C>T (p.Gly1467=)
| ClinVar dbSNP gnomAD v2 |
17 | g.63941881G>C | CA501348466 | SCN4A | c.4401C>G (p.Gly1467=)
| |
17 | g.63941881G= | CA2270161153 | SCN4A | c.4401C= (p.Gly1467=)
| |
17 | g.63941881G>T | CA501348465 | SCN4A | c.4401C>A (p.Gly1467=)
| |
17 | g.63941882C>A | CA400616094 | SCN4A | c.4400G>T (p.Gly1467Val)
| |
17 | g.63941882C>G | CA400616095 | SCN4A | c.4400G>C (p.Gly1467Ala)
| |
17 | g.63941882C>T | CA400616096 | SCN4A | c.4400G>A (p.Gly1467Asp)
| |
17 | g.63941883C>A | CA400616097 | SCN4A | c.4399G>T (p.Gly1467Cys)
| |
17 | g.63941883C>G | CA400616098 | SCN4A | c.4399G>C (p.Gly1467Arg)
| |
17 | g.63941883C>T | CA400616099 | SCN4A | c.4399G>A (p.Gly1467Ser)
| gnomAD v4 |
17 | g.63941884C>A | CA400616100 | SCN4A | c.4398G>T (p.Lys1466Asn)
| COSMIC |
17 | g.63941884C= | CA2270161154 | SCN4A | c.4398G= (p.Lys1466=)
| |
17 | g.63941884C>G | CA400616101 | SCN4A | c.4398G>C (p.Lys1466Asn)
| |
17 | g.63941884C>T | CA501348470 | SCN4A | c.4398G>A (p.Lys1466=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941885T>A | CA400616103 | SCN4A | c.4397A>T (p.Lys1466Met)
| |
17 | g.63941885T>C | CA400616104 | SCN4A | c.4397A>G (p.Lys1466Arg)
| |
17 | g.63941885T>G | CA400616102 | SCN4A | c.4397A>C (p.Lys1466Thr)
| |
17 | g.63941886T>A | CA400616105 | SCN4A | c.4396A>T (p.Lys1466Ter)
| |
17 | g.63941886T>C | CA400616107 | SCN4A | c.4396A>G (p.Lys1466Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941886T>G | CA400616106 | SCN4A | c.4396A>C (p.Lys1466Gln)
| |
17 | g.63941886T= | CA2270161155 | SCN4A | c.4396A= (p.Lys1466=)
| |
17 | g.63941887G>A | CA501348471 | SCN4A | c.4395C>T (p.Ala1465=)
| ClinVar dbSNP |
17 | g.63941887G>C | CA501348472 | SCN4A | c.4395C>G (p.Ala1465=)
| |
17 | g.63941887G>T | CA501348473 | SCN4A | c.4395C>A (p.Ala1465=)
| |
17 | g.63941888G>A | CA400616108 | SCN4A | c.4394C>T (p.Ala1465Val)
| |
17 | g.63941888G>C | CA400616109 | SCN4A | c.4394C>G (p.Ala1465Gly)
| |
17 | g.63941888G>T | CA400616110 | SCN4A | c.4394C>A (p.Ala1465Asp)
| |
17 | g.63941889C>A | CA8708972 | SCN4A | c.4393G>T (p.Ala1465Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941889C= | CA2270161156 | SCN4A | c.4393G= (p.Ala1465=)
| |
17 | g.63941889C>G | CA400616111 | SCN4A | c.4393G>C (p.Ala1465Pro)
| |
17 | g.63941889C>T | CA400616112 | SCN4A | c.4393G>A (p.Ala1465Thr)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941890C>A | CA501348476 | SCN4A | c.4392G>T (p.Gly1464=)
| |
17 | g.63941890C= | CA2270161157 | SCN4A | c.4392G= (p.Gly1464=)
| |
17 | g.63941890C>G | CA501348477 | SCN4A | c.4392G>C (p.Gly1464=)
| |
17 | g.63941890C>T | CA292957266 | SCN4A | c.4392G>A (p.Gly1464=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941891C>A | CA400616115 | SCN4A | c.4391G>T (p.Gly1464Val)
| |
17 | g.63941891C>G | CA400616114 | SCN4A | c.4391G>C (p.Gly1464Ala)
| ClinVar dbSNP |
17 | g.63941891C>T | CA400616113 | SCN4A | c.4391G>A (p.Gly1464Glu)
| gnomAD v4 |
17 | g.63941892C>A | CA400616116 | SCN4A | c.4390G>T (p.Gly1464Trp)
| ClinVar |
17 | g.63941892C= | CA2270161158 | SCN4A | c.4390G= (p.Gly1464=)
| |
17 | g.63941892C>G | CA400616117 | SCN4A | c.4390G>C (p.Gly1464Arg)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941892C>T | CA8708973 | SCN4A | c.4390G>A (p.Gly1464Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941893G>A | CA8708974 | SCN4A | c.4389C>T (p.Arg1463=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941893G>C | CA501348478 | SCN4A | c.4389C>G (p.Arg1463=)
| |
17 | g.63941893G= | CA2270161159 | SCN4A | c.4389C= (p.Arg1463=)
| |
17 | g.63941893G>T | CA501348479 | SCN4A | c.4389C>A (p.Arg1463=)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941894C>A | CA292957285 | SCN4A | c.4388G>T (p.Arg1463Leu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941894C= | CA2270161160 | SCN4A | c.4388G= (p.Arg1463=)
| |
17 | g.63941894C>G | CA400616118 | SCN4A | c.4388G>C (p.Arg1463Pro)
| |
17 | g.63941894C>T | CA8708975 | SCN4A | c.4388G>A (p.Arg1463His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941895G>A | CA8708977 | SCN4A | c.4387C>T (p.Arg1463Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941895G>C | CA400616119 | SCN4A | c.4387C>G (p.Arg1463Gly)
| |
17 | g.63941895G= | CA2270161161 | SCN4A | c.4387C= (p.Arg1463=)
| |
17 | g.63941895G>T | CA8708976 | SCN4A | c.4387C>A (p.Arg1463Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941896G>A | CA292957309 | SCN4A | c.4386C>T (p.Ile1462=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941896G>C | CA8708978 | SCN4A | c.4386C>G (p.Ile1462Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941896G= | CA2270161162 | SCN4A | c.4386C= (p.Ile1462=)
| |
17 | g.63941896G>T | CA501348481 | SCN4A | c.4386C>A (p.Ile1462=)
| |
17 | g.63941897A>C | CA400616120 | SCN4A | c.4385T>G (p.Ile1462Ser)
| |
17 | g.63941897A>G | CA400616121 | SCN4A | c.4385T>C (p.Ile1462Thr)
| |
17 | g.63941897A>T | CA400616122 | SCN4A | c.4385T>A (p.Ile1462Asn)
| |
17 | g.63941898T>A | CA400616123 | SCN4A | c.4384A>T (p.Ile1462Phe)
| |
17 | g.63941898T>C | CA400616124 | SCN4A | c.4384A>G (p.Ile1462Val)
| |
17 | g.63941898T>G | CA400616125 | SCN4A | c.4384A>C (p.Ile1462Leu)
| |
17 | g.63941899C>A | CA501348483 | SCN4A | c.4383G>T (p.Leu1461=)
| |
17 | g.63941899C>G | CA501348484 | SCN4A | c.4383G>C (p.Leu1461=)
| |
17 | g.63941899C>T | CA501348485 | SCN4A | c.4383G>A (p.Leu1461=)
| ClinVar gnomAD v4 |
17 | g.63941900A>C | CA400616126 | SCN4A | c.4382T>G (p.Leu1461Arg)
| ClinVar dbSNP |
17 | g.63941900A>G | CA400616127 | SCN4A | c.4382T>C (p.Leu1461Pro)
| ClinVar |
17 | g.63941900A>T | CA400616128 | SCN4A | c.4382T>A (p.Leu1461Gln)
| |
17 | g.63941901G>A | CA501348486 | SCN4A | c.4381C>T (p.Leu1461=)
| gnomAD v4 |
17 | g.63941901G>C | CA400616129 | SCN4A | c.4381C>G (p.Leu1461Val)
| |
17 | g.63941901G>T | CA400616130 | SCN4A | c.4381C>A (p.Leu1461Met)
| |
17 | g.63941902C>A | CA501348489 | SCN4A | c.4380G>T (p.Arg1460=)
| |
17 | g.63941902C= | CA2270161163 | SCN4A | c.4380G= (p.Arg1460=)
| |
17 | g.63941902C>G | CA501348490 | SCN4A | c.4380G>C (p.Arg1460=)
| |
17 | g.63941902C>T | CA501348491 | SCN4A | c.4380G>A (p.Arg1460=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941903C>A | CA400616131 | SCN4A | c.4379G>T (p.Arg1460Leu)
| |
17 | g.63941903C= | CA2270161164 | SCN4A | c.4379G= (p.Arg1460=)
| |
17 | g.63941903C>G | CA400616133 | SCN4A | c.4379G>C (p.Arg1460Pro)
| |
17 | g.63941903C>T | CA400616132 | SCN4A | c.4379G>A (p.Arg1460Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941904G>A | CA8708979 | SCN4A | c.4378C>T (p.Arg1460Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941904G>C | CA400616134 | SCN4A | c.4378C>G (p.Arg1460Gly)
| gnomAD v4 |
17 | g.63941904G= | CA2270161165 | SCN4A | c.4378C= (p.Arg1460=)
| |
17 | g.63941904G>T | CA501348492 | SCN4A | c.4378C>A (p.Arg1460=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941905C>A | CA501348495 | SCN4A | c.4377G>T (p.Leu1459=)
| |
17 | g.63941905C>G | CA501348494 | SCN4A | c.4377G>C (p.Leu1459=)
| |
17 | g.63941905C>T | CA501348493 | SCN4A | c.4377G>A (p.Leu1459=)
| gnomAD v4 |
17 | g.63941906A>C | CA400616135 | SCN4A | c.4376T>G (p.Leu1459Arg)
| |
17 | g.63941906A>G | CA400616136 | SCN4A | c.4376T>C (p.Leu1459Pro)
| gnomAD v4 |
17 | g.63941906A>T | CA400616137 | SCN4A | c.4376T>A (p.Leu1459Gln)
| |
17 | g.63941907G>A | CA501348499 | SCN4A | c.4375C>T (p.Leu1459=)
| COSMIC |
17 | g.63941907G>C | CA400616138 | SCN4A | c.4375C>G (p.Leu1459Val)
| |
17 | g.63941907G>T | CA400616139 | SCN4A | c.4375C>A (p.Leu1459Met)
| |
17 | g.63941907_63941908del | CA2810126886 | SCN4A | c.4374_4375del (p.Leu1459AlafsTer?)
| |
17 | g.63941908G>A | CA8708980 | SCN4A | c.4374C>T (p.Val1458=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941908G>C | CA501348500 | SCN4A | c.4374C>G (p.Val1458=)
| |
17 | g.63941908G= | CA2270161166 | SCN4A | c.4374C= (p.Val1458=)
| |
17 | g.63941908G>T | CA501348501 | SCN4A | c.4374C>A (p.Val1458=)
| |
17 | g.63941909A= | CA2270161167 | SCN4A | c.4373T= (p.Val1458=)
| |
17 | g.63941909A>C | CA400616140 | SCN4A | c.4373T>G (p.Val1458Gly)
| |
17 | g.63941909A>G | CA400616141 | SCN4A | c.4373T>C (p.Val1458Ala)
| dbSNP |
17 | g.63941909A>T | CA400616142 | SCN4A | c.4373T>A (p.Val1458Asp)
| |
17 | g.63941910C>A | CA400616143 | SCN4A | c.4372G>T (p.Val1458Phe)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941910C= | CA2270161168 | SCN4A | c.4372G= (p.Val1458=)
| |
17 | g.63941910C>G | CA400616144 | SCN4A | c.4372G>C (p.Val1458Leu)
| |
17 | g.63941910C>T | CA400616145 | SCN4A | c.4372G>A (p.Val1458Ile)
| |
17 | g.63941911A>C | CA501348503 | SCN4A | c.4371T>G (p.Arg1457=)
| |
17 | g.63941911A>G | CA501348505 | SCN4A | c.4371T>C (p.Arg1457=)
| ClinVar dbSNP |
17 | g.63941911A>T | CA501348504 | SCN4A | c.4371T>A (p.Arg1457=)
| |