Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166277156_166277158delCA2661767151SCN1A-AS1,SCN9Ac.2703_2705del (p.Asp902del)
c.2670_2672del (p.Asp891del)
c.360_362del (p.Asp121del)
c.1705_1707del
n.938_940del
c.2316_2318del (p.Asp773del)
c.1959_1961del (p.Asp654del)
n.3017_3019del
 gnomAD v4
2g.166277157A=CA1304965031SCN1A-AS1,SCN9Ac.2700T= (p.Asn900=)
c.2667T= (p.Asn889=)
c.357T= (p.Asn119=)
c.1702T=
n.939A=
c.2313T= (p.Asn771=)
c.1956T= (p.Asn652=)
n.3014T=
2g.166277157A>CCA349077765SCN1A-AS1,SCN9Ac.2700T>G (p.Asn900Lys)
c.2667T>G (p.Asn889Lys)
c.357T>G (p.Asn119Lys)
c.1702T>G
n.939A>C
c.2313T>G (p.Asn771Lys)
c.1956T>G (p.Asn652Lys)
n.3014T>G
2g.166277157A>GCA1944218SCN1A-AS1,SCN9Ac.2700T>C (p.Asn900=)
c.2667T>C (p.Asn889=)
c.357T>C (p.Asn119=)
c.1702T>C
n.939A>G
c.2313T>C (p.Asn771=)
c.1956T>C (p.Asn652=)
n.3014T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166277157A>TCA349077766SCN1A-AS1,SCN9Ac.2700T>A (p.Asn900Lys)
c.2667T>A (p.Asn889Lys)
c.357T>A (p.Asn119Lys)
c.1702T>A
n.939A>T
c.2313T>A (p.Asn771Lys)
c.1956T>A (p.Asn652Lys)
n.3014T>A
2g.166277158T>ACA349077767SCN1A-AS1,SCN9Ac.2699A>T (p.Asn900Ile)
c.2666A>T (p.Asn889Ile)
c.356A>T (p.Asn119Ile)
c.1701A>T
n.940T>A
c.2312A>T (p.Asn771Ile)
c.1955A>T (p.Asn652Ile)
n.3013A>T
2g.166277158T>CCA349077768SCN1A-AS1,SCN9Ac.2699A>G (p.Asn900Ser)
c.2666A>G (p.Asn889Ser)
c.356A>G (p.Asn119Ser)
c.1701A>G
n.940T>C
c.2312A>G (p.Asn771Ser)
c.1955A>G (p.Asn652Ser)
n.3013A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166277158T>GCA349077769SCN1A-AS1,SCN9Ac.2699A>C (p.Asn900Thr)
c.2666A>C (p.Asn889Thr)
c.356A>C (p.Asn119Thr)
c.1701A>C
n.940T>G
c.2312A>C (p.Asn771Thr)
c.1955A>C (p.Asn652Thr)
n.3013A>C
 dbSNP gnomAD v3 gnomAD v4
2g.166277158T=CA1304965034SCN1A-AS1,SCN9Ac.2699A= (p.Asn900=)
c.2666A= (p.Asn889=)
c.356A= (p.Asn119=)
c.1701A=
n.940T=
c.2312A= (p.Asn771=)
c.1955A= (p.Asn652=)
n.3013A=
2g.166277159T>ACA349077770SCN1A-AS1,SCN9Ac.2698A>T (p.Asn900Tyr)
c.2665A>T (p.Asn889Tyr)
c.355A>T (p.Asn119Tyr)
c.1700A>T
n.941T>A
c.2311A>T (p.Asn771Tyr)
c.1954A>T (p.Asn652Tyr)
n.3012A>T
2g.166277159T>CCA349077771SCN1A-AS1,SCN9Ac.2698A>G (p.Asn900Asp)
c.2665A>G (p.Asn889Asp)
c.355A>G (p.Asn119Asp)
c.1700A>G
n.941T>C
c.2311A>G (p.Asn771Asp)
c.1954A>G (p.Asn652Asp)
n.3012A>G
2g.166277159T>GCA349077772SCN1A-AS1,SCN9Ac.2698A>C (p.Asn900His)
c.2665A>C (p.Asn889His)
c.355A>C (p.Asn119His)
c.1700A>C
n.941T>G
c.2311A>C (p.Asn771His)
c.1954A>C (p.Asn652His)
n.3012A>C
 ClinVar dbSNP
2g.166277159T=CA1304965042SCN1A-AS1,SCN9Ac.2698A= (p.Asn900=)
c.2665A= (p.Asn889=)
c.355A= (p.Asn119=)
c.1700A=
n.941T=
c.2311A= (p.Asn771=)
c.1954A= (p.Asn652=)
n.3012A=
2g.166277160G>ACA429978304SCN1A-AS1,SCN9Ac.2697C>T (p.Ile899=)
c.2664C>T (p.Ile888=)
c.354C>T (p.Ile118=)
c.1699C>T
n.942G>A
c.2310C>T (p.Ile770=)
c.1953C>T (p.Ile651=)
n.3011C>T
2g.166277160G>CCA349077773SCN1A-AS1,SCN9Ac.2697C>G (p.Ile899Met)
c.2664C>G (p.Ile888Met)
c.354C>G (p.Ile118Met)
c.1699C>G
n.942G>C
c.2310C>G (p.Ile770Met)
c.1953C>G (p.Ile651Met)
n.3011C>G
2g.166277160G>TCA429978307SCN1A-AS1,SCN9Ac.2697C>A (p.Ile899=)
c.2664C>A (p.Ile888=)
c.354C>A (p.Ile118=)
c.1699C>A
n.942G>T
c.2310C>A (p.Ile770=)
c.1953C>A (p.Ile651=)
n.3011C>A
2g.166277161A>CCA349077776SCN1A-AS1,SCN9Ac.2696T>G (p.Ile899Ser)
c.2663T>G (p.Ile888Ser)
c.353T>G (p.Ile118Ser)
c.1698T>G
n.943A>C
c.2309T>G (p.Ile770Ser)
c.1952T>G (p.Ile651Ser)
n.3010T>G
2g.166277161A>GCA349077774SCN1A-AS1,SCN9Ac.2696T>C (p.Ile899Thr)
c.2663T>C (p.Ile888Thr)
c.353T>C (p.Ile118Thr)
c.1698T>C
n.943A>G
c.2309T>C (p.Ile770Thr)
c.1952T>C (p.Ile651Thr)
n.3010T>C
2g.166277161A>TCA349077775SCN1A-AS1,SCN9Ac.2696T>A (p.Ile899Asn)
c.2663T>A (p.Ile888Asn)
c.353T>A (p.Ile118Asn)
c.1698T>A
n.943A>T
c.2309T>A (p.Ile770Asn)
c.1952T>A (p.Ile651Asn)
n.3010T>A
2g.166277162T>ACA59794630SCN1A-AS1,SCN9Ac.2695A>T (p.Ile899Phe)
c.2662A>T (p.Ile888Phe)
c.352A>T (p.Ile118Phe)
c.1697A>T
n.944T>A
c.2308A>T (p.Ile770Phe)
c.1951A>T (p.Ile651Phe)
n.3009A>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166277162T>CCA349077777SCN1A-AS1,SCN9Ac.2695A>G (p.Ile899Val)
c.2662A>G (p.Ile888Val)
c.352A>G (p.Ile118Val)
c.1697A>G
n.944T>C
c.2308A>G (p.Ile770Val)
c.1951A>G (p.Ile651Val)
n.3009A>G
2g.166277162T>GCA349077778SCN1A-AS1,SCN9Ac.2695A>C (p.Ile899Leu)
c.2662A>C (p.Ile888Leu)
c.352A>C (p.Ile118Leu)
c.1697A>C
n.944T>G
c.2308A>C (p.Ile770Leu)
c.1951A>C (p.Ile651Leu)
n.3009A>C
2g.166277162T=CA1304965052SCN1A-AS1,SCN9Ac.2695A= (p.Ile899=)
c.2662A= (p.Ile888=)
c.352A= (p.Ile118=)
c.1697A=
n.944T=
c.2308A= (p.Ile770=)
c.1951A= (p.Ile651=)
n.3009A=
2g.166277163C>ACA349077779SCN1A-AS1,SCN9Ac.2694G>T (p.Lys898Asn)
c.2661G>T (p.Lys887Asn)
c.351G>T (p.Lys117Asn)
c.1696G>T
n.945C>A
c.2307G>T (p.Lys769Asn)
c.1950G>T (p.Lys650Asn)
n.3008G>T
2g.166277163C>GCA349077780SCN1A-AS1,SCN9Ac.2694G>C (p.Lys898Asn)
c.2661G>C (p.Lys887Asn)
c.351G>C (p.Lys117Asn)
c.1696G>C
n.945C>G
c.2307G>C (p.Lys769Asn)
c.1950G>C (p.Lys650Asn)
n.3008G>C
2g.166277163C>TCA429978310SCN1A-AS1,SCN9Ac.2694G>A (p.Lys898=)
c.2661G>A (p.Lys887=)
c.351G>A (p.Lys117=)
c.1696G>A
n.945C>T
c.2307G>A (p.Lys769=)
c.1950G>A (p.Lys650=)
n.3008G>A
2g.166277164T>ACA349077781SCN1A-AS1,SCN9Ac.2693A>T (p.Lys898Met)
c.2660A>T (p.Lys887Met)
c.350A>T (p.Lys117Met)
c.1695A>T
n.946T>A
c.2306A>T (p.Lys769Met)
c.1949A>T (p.Lys650Met)
n.3007A>T
2g.166277164T>CCA349077783SCN1A-AS1,SCN9Ac.2693A>G (p.Lys898Arg)
c.2660A>G (p.Lys887Arg)
c.350A>G (p.Lys117Arg)
c.1695A>G
n.946T>C
c.2306A>G (p.Lys769Arg)
c.1949A>G (p.Lys650Arg)
n.3007A>G
 ClinVar dbSNP
2g.166277164T>GCA349077782SCN1A-AS1,SCN9Ac.2693A>C (p.Lys898Thr)
c.2660A>C (p.Lys887Thr)
c.350A>C (p.Lys117Thr)
c.1695A>C
n.946T>G
c.2306A>C (p.Lys769Thr)
c.1949A>C (p.Lys650Thr)
n.3007A>C
2g.166277165T>ACA349077784SCN1A-AS1,SCN9Ac.2692A>T (p.Lys898Ter)
c.2659A>T (p.Lys887Ter)
c.349A>T (p.Lys117Ter)
c.1694A>T
n.947T>A
c.2305A>T (p.Lys769Ter)
c.1948A>T (p.Lys650Ter)
n.3006A>T
2g.166277165T>CCA349077785SCN1A-AS1,SCN9Ac.2692A>G (p.Lys898Glu)
c.2659A>G (p.Lys887Glu)
c.349A>G (p.Lys117Glu)
c.1694A>G
n.947T>C
c.2305A>G (p.Lys769Glu)
c.1948A>G (p.Lys650Glu)
n.3006A>G
2g.166277165T>GCA349077786SCN1A-AS1,SCN9Ac.2692A>C (p.Lys898Gln)
c.2659A>C (p.Lys887Gln)
c.349A>C (p.Lys117Gln)
c.1694A>C
n.947T>G
c.2305A>C (p.Lys769Gln)
c.1948A>C (p.Lys650Gln)
n.3006A>C
2g.166277166G>ACA16610178SCN1A-AS1,SCN9Ac.2691C>T (p.Cys897=)
c.2658C>T (p.Cys886=)
c.348C>T (p.Cys116=)
c.1693C>T
n.948G>A
c.2304C>T (p.Cys768=)
c.1947C>T (p.Cys649=)
n.3005C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166277166G>CCA349077787SCN1A-AS1,SCN9Ac.2691C>G (p.Cys897Trp)
c.2658C>G (p.Cys886Trp)
c.348C>G (p.Cys116Trp)
c.1693C>G
n.948G>C
c.2304C>G (p.Cys768Trp)
c.1947C>G (p.Cys649Trp)
n.3005C>G
2g.166277166G=CA1304965057SCN1A-AS1,SCN9Ac.2691C= (p.Cys897=)
c.2658C= (p.Cys886=)
c.348C= (p.Cys116=)
c.1693C=
n.948G=
c.2304C= (p.Cys768=)
c.1947C= (p.Cys649=)
n.3005C=
2g.166277166G>TCA349077788SCN1A-AS1,SCN9Ac.2691C>A (p.Cys897Ter)
c.2658C>A (p.Cys886Ter)
c.348C>A (p.Cys116Ter)
c.1693C>A
n.948G>T
c.2304C>A (p.Cys768Ter)
c.1947C>A (p.Cys649Ter)
n.3005C>A
2g.166277167C>ACA349077789SCN1A-AS1,SCN9Ac.2690G>T (p.Cys897Phe)
c.2657G>T (p.Cys886Phe)
c.347G>T (p.Cys116Phe)
c.1692G>T
n.949C>A
c.2303G>T (p.Cys768Phe)
c.1946G>T (p.Cys649Phe)
n.3004G>T
 gnomAD v4
2g.166277167C>GCA349077790SCN1A-AS1,SCN9Ac.2690G>C (p.Cys897Ser)
c.2657G>C (p.Cys886Ser)
c.347G>C (p.Cys116Ser)
c.1692G>C
n.949C>G
c.2303G>C (p.Cys768Ser)
c.1946G>C (p.Cys649Ser)
n.3004G>C
2g.166277167C>TCA349077791SCN1A-AS1,SCN9Ac.2690G>A (p.Cys897Tyr)
c.2657G>A (p.Cys886Tyr)
c.347G>A (p.Cys116Tyr)
c.1692G>A
n.949C>T
c.2303G>A (p.Cys768Tyr)
c.1946G>A (p.Cys649Tyr)
n.3004G>A
 COSMIC COSMIC
2g.166277168A>CCA349077792SCN1A-AS1,SCN9Ac.2689T>G (p.Cys897Gly)
c.2656T>G (p.Cys886Gly)
c.346T>G (p.Cys116Gly)
c.1691T>G
n.950A>C
c.2302T>G (p.Cys768Gly)
c.1945T>G (p.Cys649Gly)
n.3003T>G
2g.166277168A>GCA349077793SCN1A-AS1,SCN9Ac.2689T>C (p.Cys897Arg)
c.2656T>C (p.Cys886Arg)
c.346T>C (p.Cys116Arg)
c.1691T>C
n.950A>G
c.2302T>C (p.Cys768Arg)
c.1945T>C (p.Cys649Arg)
n.3003T>C
2g.166277168A>TCA349077794SCN1A-AS1,SCN9Ac.2689T>A (p.Cys897Ser)
c.2656T>A (p.Cys886Ser)
c.346T>A (p.Cys116Ser)
c.1691T>A
n.950A>T
c.2302T>A (p.Cys768Ser)
c.1945T>A (p.Cys649Ser)
n.3003T>A
2g.166277169G>ACA429978314SCN1A-AS1,SCN9Ac.2688C>T (p.Val896=)
c.2655C>T (p.Val885=)
c.345C>T (p.Val115=)
c.1690C>T
n.951G>A
c.2301C>T (p.Val767=)
c.1944C>T (p.Val648=)
n.3002C>T
2g.166277169G>CCA429978316SCN1A-AS1,SCN9Ac.2688C>G (p.Val896=)
c.2655C>G (p.Val885=)
c.345C>G (p.Val115=)
c.1690C>G
n.951G>C
c.2301C>G (p.Val767=)
c.1944C>G (p.Val648=)
n.3002C>G
2g.166277169G>TCA429978317SCN1A-AS1,SCN9Ac.2688C>A (p.Val896=)
c.2655C>A (p.Val885=)
c.345C>A (p.Val115=)
c.1690C>A
n.951G>T
c.2301C>A (p.Val767=)
c.1944C>A (p.Val648=)
n.3002C>A
2g.166277170A>CCA349077795SCN1A-AS1,SCN9Ac.2687T>G (p.Val896Gly)
c.2654T>G (p.Val885Gly)
c.344T>G (p.Val115Gly)
c.1689T>G
n.952A>C
c.2300T>G (p.Val767Gly)
c.1943T>G (p.Val648Gly)
n.3001T>G
2g.166277170A>GCA349077797SCN1A-AS1,SCN9Ac.2687T>C (p.Val896Ala)
c.2654T>C (p.Val885Ala)
c.344T>C (p.Val115Ala)
c.1689T>C
n.952A>G
c.2300T>C (p.Val767Ala)
c.1943T>C (p.Val648Ala)
n.3001T>C
2g.166277170A>TCA349077796SCN1A-AS1,SCN9Ac.2687T>A (p.Val896Asp)
c.2654T>A (p.Val885Asp)
c.344T>A (p.Val115Asp)
c.1689T>A
n.952A>T
c.2300T>A (p.Val767Asp)
c.1943T>A (p.Val648Asp)
n.3001T>A
2g.166277171C>ACA349077798SCN1A-AS1,SCN9Ac.2686G>T (p.Val896Phe)
c.2653G>T (p.Val885Phe)
c.343G>T (p.Val115Phe)
c.1688G>T
n.953C>A
c.2299G>T (p.Val767Phe)
c.1942G>T (p.Val648Phe)
n.3000G>T
2g.166277171C=CA1304965064SCN1A-AS1,SCN9Ac.2686G= (p.Val896=)
c.2653G= (p.Val885=)
c.343G= (p.Val115=)
c.1688G=
n.953C=
c.2299G= (p.Val767=)
c.1942G= (p.Val648=)
n.3000G=

Number of alleles fetched