Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166198762_166198765dupCA1304929121SCN1A-AS1,SCN9Ac.5874_5877dup (p.Ser1960Ter)
c.5718_5721dup (p.Ser1908Ter)
c.5841_5844dup (p.Ser1949Ter)
n.2251_2254dup
n.432-877_432-874dup
c.5487_5490dup (p.Ser1831Ter)
c.5130_5133dup (p.Ser1712Ter)
 ClinVar dbSNP gnomAD v4
2g.166198763T>ACA349051270SCN1A-AS1,SCN9Ac.5876A>T (p.Asp1959Val)
c.5720A>T (p.Asp1907Val)
c.5843A>T (p.Asp1948Val)
n.2253A>T
n.432-876T>A
c.5489A>T (p.Asp1830Val)
c.5132A>T (p.Asp1711Val)
2g.166198763T>CCA349051271SCN1A-AS1,SCN9Ac.5876A>G (p.Asp1959Gly)
c.5720A>G (p.Asp1907Gly)
c.5843A>G (p.Asp1948Gly)
n.2253A>G
n.432-876T>C
c.5489A>G (p.Asp1830Gly)
c.5132A>G (p.Asp1711Gly)
 gnomAD v4
2g.166198763T>GCA16610170SCN1A-AS1,SCN9Ac.5876A>C (p.Asp1959Ala)
c.5720A>C (p.Asp1907Ala)
c.5843A>C (p.Asp1948Ala)
n.2253A>C
n.432-876T>G
c.5489A>C (p.Asp1830Ala)
c.5132A>C (p.Asp1711Ala)
 ClinVar dbSNP
2g.166198763T=CA1304929122SCN1A-AS1,SCN9Ac.5876A= (p.Asp1959=)
c.5720A= (p.Asp1907=)
c.5843A= (p.Asp1948=)
n.2253A=
n.432-876T=
c.5489A= (p.Asp1830=)
c.5132A= (p.Asp1711=)
2g.166198764C>ACA349051275SCN1A-AS1,SCN9Ac.5875G>T (p.Asp1959Tyr)
c.5719G>T (p.Asp1907Tyr)
c.5842G>T (p.Asp1948Tyr)
n.2252G>T
n.432-875C>A
c.5488G>T (p.Asp1830Tyr)
c.5131G>T (p.Asp1711Tyr)
2g.166198764C>GCA349051278SCN1A-AS1,SCN9Ac.5875G>C (p.Asp1959His)
c.5719G>C (p.Asp1907His)
c.5842G>C (p.Asp1948His)
n.2252G>C
n.432-875C>G
c.5488G>C (p.Asp1830His)
c.5131G>C (p.Asp1711His)
2g.166198764C>TCA349051277SCN1A-AS1,SCN9Ac.5875G>A (p.Asp1959Asn)
c.5719G>A (p.Asp1907Asn)
c.5842G>A (p.Asp1948Asn)
n.2252G>A
n.432-875C>T
c.5488G>A (p.Asp1830Asn)
c.5131G>A (p.Asp1711Asn)
 COSMIC COSMIC
2g.166198764_166198766delinsCATCA1304929123SCN1A-AS1,SCN9Ac.5873_5875delinsATG (p.Tyr1958=)
c.5717_5719delinsATG (p.Tyr1906=)
c.5840_5842delinsATG (p.Tyr1947=)
n.2250_2252delinsATG
n.432-875_432-873delinsCAT
c.5486_5488delinsATG (p.Tyr1829=)
c.5129_5131delinsATG (p.Tyr1710=)
2g.166198765A>CCA349051281SCN1A-AS1,SCN9Ac.5874T>G (p.Tyr1958Ter)
c.5718T>G (p.Tyr1906Ter)
c.5841T>G (p.Tyr1947Ter)
n.2251T>G
n.432-874A>C
c.5487T>G (p.Tyr1829Ter)
c.5130T>G (p.Tyr1710Ter)
2g.166198765A>GCA429977577SCN1A-AS1,SCN9Ac.5874T>C (p.Tyr1958=)
c.5718T>C (p.Tyr1906=)
c.5841T>C (p.Tyr1947=)
n.2251T>C
n.432-874A>G
c.5487T>C (p.Tyr1829=)
c.5130T>C (p.Tyr1710=)
2g.166198765A>TCA349051283SCN1A-AS1,SCN9Ac.5874T>A (p.Tyr1958Ter)
c.5718T>A (p.Tyr1906Ter)
c.5841T>A (p.Tyr1947Ter)
n.2251T>A
n.432-874A>T
c.5487T>A (p.Tyr1829Ter)
c.5130T>A (p.Tyr1710Ter)
2g.166198767_166198768delCA1943602SCN1A-AS1,SCN9Ac.5873_5874del (p.Tyr1958Ter)
c.5717_5718del (p.Tyr1906Ter)
c.5840_5841del (p.Tyr1947Ter)
n.2250_2251del
n.432-872_432-871del
c.5486_5487del (p.Tyr1829Ter)
c.5129_5130del (p.Tyr1710Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166198766T>ACA59782747SCN1A-AS1,SCN9Ac.5873A>T (p.Tyr1958Phe)
c.5717A>T (p.Tyr1906Phe)
c.5840A>T (p.Tyr1947Phe)
n.2250A>T
n.432-873T>A
c.5486A>T (p.Tyr1829Phe)
c.5129A>T (p.Tyr1710Phe)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.166198766T>CCA349051286SCN1A-AS1,SCN9Ac.5873A>G (p.Tyr1958Cys)
c.5717A>G (p.Tyr1906Cys)
c.5840A>G (p.Tyr1947Cys)
n.2250A>G
n.432-873T>C
c.5486A>G (p.Tyr1829Cys)
c.5129A>G (p.Tyr1710Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166198766T>GCA349051288SCN1A-AS1,SCN9Ac.5873A>C (p.Tyr1958Ser)
c.5717A>C (p.Tyr1906Ser)
c.5840A>C (p.Tyr1947Ser)
n.2250A>C
n.432-873T>G
c.5486A>C (p.Tyr1829Ser)
c.5129A>C (p.Tyr1710Ser)
2g.166198766T=CA1304929124SCN1A-AS1,SCN9Ac.5873A= (p.Tyr1958=)
c.5717A= (p.Tyr1906=)
c.5840A= (p.Tyr1947=)
n.2250A=
n.432-873T=
c.5486A= (p.Tyr1829=)
c.5129A= (p.Tyr1710=)
2g.166198767A=CA1304929125SCN1A-AS1,SCN9Ac.5872T= (p.Tyr1958=)
c.5716T= (p.Tyr1906=)
c.5839T= (p.Tyr1947=)
n.2249T=
n.432-872A=
c.5485T= (p.Tyr1829=)
c.5128T= (p.Tyr1710=)
2g.166198767A>CCA349051290SCN1A-AS1,SCN9Ac.5872T>G (p.Tyr1958Asp)
c.5716T>G (p.Tyr1906Asp)
c.5839T>G (p.Tyr1947Asp)
n.2249T>G
n.432-872A>C
c.5485T>G (p.Tyr1829Asp)
c.5128T>G (p.Tyr1710Asp)
2g.166198767A>GCA349051292SCN1A-AS1,SCN9Ac.5872T>C (p.Tyr1958His)
c.5716T>C (p.Tyr1906His)
c.5839T>C (p.Tyr1947His)
n.2249T>C
n.432-872A>G
c.5485T>C (p.Tyr1829His)
c.5128T>C (p.Tyr1710His)
 gnomAD v4
2g.166198767A>TCA1943603SCN1A-AS1,SCN9Ac.5872T>A (p.Tyr1958Asn)
c.5716T>A (p.Tyr1906Asn)
c.5839T>A (p.Tyr1947Asn)
n.2249T>A
n.432-872A>T
c.5485T>A (p.Tyr1829Asn)
c.5128T>A (p.Tyr1710Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166198768T>ACA429977584SCN1A-AS1,SCN9Ac.5871A>T (p.Ser1957=)
c.5715A>T (p.Ser1905=)
c.5838A>T (p.Ser1946=)
n.2248A>T
n.432-871T>A
c.5484A>T (p.Ser1828=)
c.5127A>T (p.Ser1709=)
2g.166198768T>CCA429977581SCN1A-AS1,SCN9Ac.5871A>G (p.Ser1957=)
c.5715A>G (p.Ser1905=)
c.5838A>G (p.Ser1946=)
n.2248A>G
n.432-871T>C
c.5484A>G (p.Ser1828=)
c.5127A>G (p.Ser1709=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166198768T>GCA429977582SCN1A-AS1,SCN9Ac.5871A>C (p.Ser1957=)
c.5715A>C (p.Ser1905=)
c.5838A>C (p.Ser1946=)
n.2248A>C
n.432-871T>G
c.5484A>C (p.Ser1828=)
c.5127A>C (p.Ser1709=)
 gnomAD v4
2g.166198768T=CA1304929126SCN1A-AS1,SCN9Ac.5871A= (p.Ser1957=)
c.5715A= (p.Ser1905=)
c.5838A= (p.Ser1946=)
n.2248A=
n.432-871T=
c.5484A= (p.Ser1828=)
c.5127A= (p.Ser1709=)
2g.166198769G>ACA349051295SCN1A-AS1,SCN9Ac.5870C>T (p.Ser1957Leu)
c.5714C>T (p.Ser1905Leu)
c.5837C>T (p.Ser1946Leu)
n.2247C>T
n.432-870G>A
c.5483C>T (p.Ser1828Leu)
c.5126C>T (p.Ser1709Leu)
2g.166198769G>CCA349051296SCN1A-AS1,SCN9Ac.5870C>G (p.Ser1957Ter)
c.5714C>G (p.Ser1905Ter)
c.5837C>G (p.Ser1946Ter)
n.2247C>G
n.432-870G>C
c.5483C>G (p.Ser1828Ter)
c.5126C>G (p.Ser1709Ter)
2g.166198769G>TCA349051298SCN1A-AS1,SCN9Ac.5870C>A (p.Ser1957Ter)
c.5714C>A (p.Ser1905Ter)
c.5837C>A (p.Ser1946Ter)
n.2247C>A
n.432-870G>T
c.5483C>A (p.Ser1828Ter)
c.5126C>A (p.Ser1709Ter)
 gnomAD v4
2g.166198770A=CA1304929127SCN1A-AS1,SCN9Ac.5869T= (p.Ser1957=)
c.5713T= (p.Ser1905=)
c.5836T= (p.Ser1946=)
n.2246T=
n.432-869A=
c.5482T= (p.Ser1828=)
c.5125T= (p.Ser1709=)
2g.166198770A>CCA349051300SCN1A-AS1,SCN9Ac.5869T>G (p.Ser1957Ala)
c.5713T>G (p.Ser1905Ala)
c.5836T>G (p.Ser1946Ala)
n.2246T>G
n.432-869A>C
c.5482T>G (p.Ser1828Ala)
c.5125T>G (p.Ser1709Ala)
2g.166198770A>GCA1943604SCN1A-AS1,SCN9Ac.5869T>C (p.Ser1957Pro)
c.5713T>C (p.Ser1905Pro)
c.5836T>C (p.Ser1946Pro)
n.2246T>C
n.432-869A>G
c.5482T>C (p.Ser1828Pro)
c.5125T>C (p.Ser1709Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166198770A>TCA349051303SCN1A-AS1,SCN9Ac.5869T>A (p.Ser1957Thr)
c.5713T>A (p.Ser1905Thr)
c.5836T>A (p.Ser1946Thr)
n.2246T>A
n.432-869A>T
c.5482T>A (p.Ser1828Thr)
c.5125T>A (p.Ser1709Thr)
2g.166198771A=CA1304929128SCN1A-AS1,SCN9Ac.5868T= (p.Pro1956=)
c.5712T= (p.Pro1904=)
c.5835T= (p.Pro1945=)
n.2245T=
n.432-868A=
c.5481T= (p.Pro1827=)
c.5124T= (p.Pro1708=)
2g.166198771A>CCA429977586SCN1A-AS1,SCN9Ac.5868T>G (p.Pro1956=)
c.5712T>G (p.Pro1904=)
c.5835T>G (p.Pro1945=)
n.2245T>G
n.432-868A>C
c.5481T>G (p.Pro1827=)
c.5124T>G (p.Pro1708=)
2g.166198771A>GCA429977587SCN1A-AS1,SCN9Ac.5868T>C (p.Pro1956=)
c.5712T>C (p.Pro1904=)
c.5835T>C (p.Pro1945=)
n.2245T>C
n.432-868A>G
c.5481T>C (p.Pro1827=)
c.5124T>C (p.Pro1708=)
2g.166198771A>TCA429977590SCN1A-AS1,SCN9Ac.5868T>A (p.Pro1956=)
c.5712T>A (p.Pro1904=)
c.5835T>A (p.Pro1945=)
n.2245T>A
n.432-868A>T
c.5481T>A (p.Pro1827=)
c.5124T>A (p.Pro1708=)
 ClinVar dbSNP gnomAD v4
2g.166198772G>ACA349051313SCN1A-AS1,SCN9Ac.5867C>T (p.Pro1956Leu)
c.5711C>T (p.Pro1904Leu)
c.5834C>T (p.Pro1945Leu)
n.2244C>T
n.432-867G>A
c.5480C>T (p.Pro1827Leu)
c.5123C>T (p.Pro1708Leu)
 gnomAD v4
2g.166198772G>CCA349051305SCN1A-AS1,SCN9Ac.5867C>G (p.Pro1956Arg)
c.5711C>G (p.Pro1904Arg)
c.5834C>G (p.Pro1945Arg)
n.2244C>G
n.432-867G>C
c.5480C>G (p.Pro1827Arg)
c.5123C>G (p.Pro1708Arg)
2g.166198772G>TCA349051311SCN1A-AS1,SCN9Ac.5867C>A (p.Pro1956His)
c.5711C>A (p.Pro1904His)
c.5834C>A (p.Pro1945His)
n.2244C>A
n.432-867G>T
c.5480C>A (p.Pro1827His)
c.5123C>A (p.Pro1708His)
2g.166198773G>ACA349051316SCN1A-AS1,SCN9Ac.5866C>T (p.Pro1956Ser)
c.5710C>T (p.Pro1904Ser)
c.5833C>T (p.Pro1945Ser)
n.2243C>T
n.432-866G>A
c.5479C>T (p.Pro1827Ser)
c.5122C>T (p.Pro1708Ser)
2g.166198773G>CCA349051318SCN1A-AS1,SCN9Ac.5866C>G (p.Pro1956Ala)
c.5710C>G (p.Pro1904Ala)
c.5833C>G (p.Pro1945Ala)
n.2243C>G
n.432-866G>C
c.5479C>G (p.Pro1827Ala)
c.5122C>G (p.Pro1708Ala)
 gnomAD v4
2g.166198773G>TCA349051320SCN1A-AS1,SCN9Ac.5866C>A (p.Pro1956Thr)
c.5710C>A (p.Pro1904Thr)
c.5833C>A (p.Pro1945Thr)
n.2243C>A
n.432-866G>T
c.5479C>A (p.Pro1827Thr)
c.5122C>A (p.Pro1708Thr)
 gnomAD v4
2g.166198774T>ACA429977593SCN1A-AS1,SCN9Ac.5865A>T (p.Pro1955=)
c.5709A>T (p.Pro1903=)
c.5832A>T (p.Pro1944=)
n.2242A>T
n.432-865T>A
c.5478A>T (p.Pro1826=)
c.5121A>T (p.Pro1707=)
2g.166198774T>CCA59782763SCN1A-AS1,SCN9Ac.5865A>G (p.Pro1955=)
c.5709A>G (p.Pro1903=)
c.5832A>G (p.Pro1944=)
n.2242A>G
n.432-865T>C
c.5478A>G (p.Pro1826=)
c.5121A>G (p.Pro1707=)
 dbSNP gnomAD v3 gnomAD v4
2g.166198774T>GCA429977594SCN1A-AS1,SCN9Ac.5865A>C (p.Pro1955=)
c.5709A>C (p.Pro1903=)
c.5832A>C (p.Pro1944=)
n.2242A>C
n.432-865T>G
c.5478A>C (p.Pro1826=)
c.5121A>C (p.Pro1707=)
2g.166198774T=CA1304929129SCN1A-AS1,SCN9Ac.5865A= (p.Pro1955=)
c.5709A= (p.Pro1903=)
c.5832A= (p.Pro1944=)
n.2242A=
n.432-865T=
c.5478A= (p.Pro1826=)
c.5121A= (p.Pro1707=)
2g.166198775G>ACA349051324SCN1A-AS1,SCN9Ac.5864C>T (p.Pro1955Leu)
c.5708C>T (p.Pro1903Leu)
c.5831C>T (p.Pro1944Leu)
n.2241C>T
n.432-864G>A
c.5477C>T (p.Pro1826Leu)
c.5120C>T (p.Pro1707Leu)
2g.166198775G>CCA349051326SCN1A-AS1,SCN9Ac.5864C>G (p.Pro1955Arg)
c.5708C>G (p.Pro1903Arg)
c.5831C>G (p.Pro1944Arg)
n.2241C>G
n.432-864G>C
c.5477C>G (p.Pro1826Arg)
c.5120C>G (p.Pro1707Arg)
2g.166198775G>TCA349051327SCN1A-AS1,SCN9Ac.5864C>A (p.Pro1955Gln)
c.5708C>A (p.Pro1903Gln)
c.5831C>A (p.Pro1944Gln)
n.2241C>A
n.432-864G>T
c.5477C>A (p.Pro1826Gln)
c.5120C>A (p.Pro1707Gln)
2g.166198776G>ACA349051328SCN1A-AS1,SCN9Ac.5863C>T (p.Pro1955Ser)
c.5707C>T (p.Pro1903Ser)
c.5830C>T (p.Pro1944Ser)
n.2240C>T
n.432-863G>A
c.5476C>T (p.Pro1826Ser)
c.5119C>T (p.Pro1707Ser)

Number of alleles fetched