Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.165344684G>ACA349014458SCN2Ac.2692G>A (p.Val898Ile)
c.*1011G>A (n.*1011G>A)
c.*679G>A (n.*679G>A)
c.*3215G>A (n.*3215G>A)
c.*634G>A (n.*634G>A)
c.2296G>A (p.Val766Ile)
c.130G>A (p.Val44Ile)
c.543G>A
n.2835G>A
c.2662G>A (p.Val888Ile)
c.1939G>A (p.Val647Ile)
c.490G>A (p.Val164Ile)
2g.165344684G>CCA349014459SCN2Ac.2692G>C (p.Val898Leu)
c.*1011G>C (n.*1011G>C)
c.*679G>C (n.*679G>C)
c.*3215G>C (n.*3215G>C)
c.*634G>C (n.*634G>C)
c.2296G>C (p.Val766Leu)
c.130G>C (p.Val44Leu)
c.543G>C
n.2835G>C
c.2662G>C (p.Val888Leu)
c.1939G>C (p.Val647Leu)
c.490G>C (p.Val164Leu)
2g.165344684G>TCA349014463SCN2Ac.2692G>T (p.Val898Phe)
c.*1011G>T (n.*1011G>T)
c.*679G>T (n.*679G>T)
c.*3215G>T (n.*3215G>T)
c.*634G>T (n.*634G>T)
c.2296G>T (p.Val766Phe)
c.130G>T (p.Val44Phe)
c.543G>T
n.2835G>T
c.2662G>T (p.Val888Phe)
c.1939G>T (p.Val647Phe)
c.490G>T (p.Val164Phe)
2g.165344685T>ACA349014484SCN2Ac.2693T>A (p.Val898Asp)
c.*1012T>A (n.*1012T>A)
c.*680T>A (n.*680T>A)
c.*3216T>A (n.*3216T>A)
c.*635T>A (n.*635T>A)
c.2297T>A (p.Val766Asp)
c.131T>A (p.Val44Asp)
c.544T>A
n.2836T>A
c.2663T>A (p.Val888Asp)
c.1940T>A (p.Val647Asp)
c.491T>A (p.Val164Asp)
2g.165344685T>CCA349014480SCN2Ac.2693T>C (p.Val898Ala)
c.*1012T>C (n.*1012T>C)
c.*680T>C (n.*680T>C)
c.*3216T>C (n.*3216T>C)
c.*635T>C (n.*635T>C)
c.2297T>C (p.Val766Ala)
c.131T>C (p.Val44Ala)
c.544T>C
n.2836T>C
c.2663T>C (p.Val888Ala)
c.1940T>C (p.Val647Ala)
c.491T>C (p.Val164Ala)
2g.165344685T>GCA349014477SCN2Ac.2693T>G (p.Val898Gly)
c.*1012T>G (n.*1012T>G)
c.*680T>G (n.*680T>G)
c.*3216T>G (n.*3216T>G)
c.*635T>G (n.*635T>G)
c.2297T>G (p.Val766Gly)
c.131T>G (p.Val44Gly)
c.544T>G
n.2836T>G
c.2663T>G (p.Val888Gly)
c.1940T>G (p.Val647Gly)
c.491T>G (p.Val164Gly)
2g.165344686C>ACA429972146SCN2Ac.2694C>A (p.Val898=)
c.*1013C>A (n.*1013C>A)
c.*681C>A (n.*681C>A)
c.*3217C>A (n.*3217C>A)
c.*636C>A (n.*636C>A)
c.2298C>A (p.Val766=)
c.132C>A (p.Val44=)
c.545C>A
n.2837C>A
c.2664C>A (p.Val888=)
c.1941C>A (p.Val647=)
c.492C>A (p.Val164=)
2g.165344686C=CA1304545492SCN2Ac.2694C= (p.Val898=)
c.*1013C= (n.*1013C=)
c.*681C= (n.*681C=)
c.*3217C= (n.*3217C=)
c.*636C= (n.*636C=)
c.2298C= (p.Val766=)
c.132C= (p.Val44=)
c.545C=
n.2837C=
c.2664C= (p.Val888=)
c.1941C= (p.Val647=)
c.492C= (p.Val164=)
2g.165344686C>GCA429972147SCN2Ac.2694C>G (p.Val898=)
c.*1013C>G (n.*1013C>G)
c.*681C>G (n.*681C>G)
c.*3217C>G (n.*3217C>G)
c.*636C>G (n.*636C>G)
c.2298C>G (p.Val766=)
c.132C>G (p.Val44=)
c.545C>G
n.2837C>G
c.2664C>G (p.Val888=)
c.1941C>G (p.Val647=)
c.492C>G (p.Val164=)
 ClinVar dbSNP
2g.165344686C>TCA59719990SCN2Ac.2694C>T (p.Val898=)
c.*1013C>T (n.*1013C>T)
c.*681C>T (n.*681C>T)
c.*3217C>T (n.*3217C>T)
c.*636C>T (n.*636C>T)
c.2298C>T (p.Val766=)
c.132C>T (p.Val44=)
c.545C>T
n.2837C>T
c.2664C>T (p.Val888=)
c.1941C>T (p.Val647=)
c.492C>T (p.Val164=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.165344687G>ACA317892SCN2Ac.2695G>A (p.Gly899Ser)
c.*1014G>A (n.*1014G>A)
c.*682G>A (n.*682G>A)
c.*3218G>A (n.*3218G>A)
c.*637G>A (n.*637G>A)
c.2299G>A (p.Gly767Ser)
c.133G>A (p.Gly45Ser)
c.546G>A
n.2838G>A
c.2665G>A (p.Gly889Ser)
c.1942G>A (p.Gly648Ser)
c.493G>A (p.Gly165Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.165344687G>CCA349014495SCN2Ac.2695G>C (p.Gly899Arg)
c.*1014G>C (n.*1014G>C)
c.*682G>C (n.*682G>C)
c.*3218G>C (n.*3218G>C)
c.*637G>C (n.*637G>C)
c.2299G>C (p.Gly767Arg)
c.133G>C (p.Gly45Arg)
c.546G>C
n.2838G>C
c.2665G>C (p.Gly889Arg)
c.1942G>C (p.Gly648Arg)
c.493G>C (p.Gly165Arg)
2g.165344687G=CA1304545493SCN2Ac.2695G= (p.Gly899=)
c.*1014G= (n.*1014G=)
c.*682G= (n.*682G=)
c.*3218G= (n.*3218G=)
c.*637G= (n.*637G=)
c.2299G= (p.Gly767=)
c.133G= (p.Gly45=)
c.546G=
n.2838G=
c.2665G= (p.Gly889=)
c.1942G= (p.Gly648=)
c.493G= (p.Gly165=)
2g.165344687G>TCA349014499SCN2Ac.2695G>T (p.Gly899Cys)
c.*1014G>T (n.*1014G>T)
c.*682G>T (n.*682G>T)
c.*3218G>T (n.*3218G>T)
c.*637G>T (n.*637G>T)
c.2299G>T (p.Gly767Cys)
c.133G>T (p.Gly45Cys)
c.546G>T
n.2838G>T
c.2665G>T (p.Gly889Cys)
c.1942G>T (p.Gly648Cys)
c.493G>T (p.Gly165Cys)
2g.165344688G>ACA317895SCN2Ac.2696G>A (p.Gly899Asp)
c.*1015G>A (n.*1015G>A)
c.*683G>A (n.*683G>A)
c.*3219G>A (n.*3219G>A)
c.*638G>A (n.*638G>A)
c.2300G>A (p.Gly767Asp)
c.134G>A (p.Gly45Asp)
c.547G>A
n.2839G>A
c.2666G>A (p.Gly889Asp)
c.1943G>A (p.Gly648Asp)
c.494G>A (p.Gly165Asp)
 ClinVar dbSNP
2g.165344688G>CCA349014508SCN2Ac.2696G>C (p.Gly899Ala)
c.*1015G>C (n.*1015G>C)
c.*683G>C (n.*683G>C)
c.*3219G>C (n.*3219G>C)
c.*638G>C (n.*638G>C)
c.2300G>C (p.Gly767Ala)
c.134G>C (p.Gly45Ala)
c.547G>C
n.2839G>C
c.2666G>C (p.Gly889Ala)
c.1943G>C (p.Gly648Ala)
c.494G>C (p.Gly165Ala)
2g.165344688G=CA1304545494SCN2Ac.2696G= (p.Gly899=)
c.*1015G= (n.*1015G=)
c.*683G= (n.*683G=)
c.*3219G= (n.*3219G=)
c.*638G= (n.*638G=)
c.2300G= (p.Gly767=)
c.134G= (p.Gly45=)
c.547G=
n.2839G=
c.2666G= (p.Gly889=)
c.1943G= (p.Gly648=)
c.494G= (p.Gly165=)
2g.165344688G>TCA349014512SCN2Ac.2696G>T (p.Gly899Val)
c.*1015G>T (n.*1015G>T)
c.*683G>T (n.*683G>T)
c.*3219G>T (n.*3219G>T)
c.*638G>T (n.*638G>T)
c.2300G>T (p.Gly767Val)
c.134G>T (p.Gly45Val)
c.547G>T
n.2839G>T
c.2666G>T (p.Gly889Val)
c.1943G>T (p.Gly648Val)
c.494G>T (p.Gly165Val)
2g.165344689C>ACA429972156SCN2Ac.2697C>A (p.Gly899=)
c.*1016C>A (n.*1016C>A)
c.*684C>A (n.*684C>A)
c.*3220C>A (n.*3220C>A)
c.*639C>A (n.*639C>A)
c.2301C>A (p.Gly767=)
c.135C>A (p.Gly45=)
c.548C>A
n.2840C>A
c.2667C>A (p.Gly889=)
c.1944C>A (p.Gly648=)
c.495C>A (p.Gly165=)
2g.165344689C>GCA429972155SCN2Ac.2697C>G (p.Gly899=)
c.*1016C>G (n.*1016C>G)
c.*684C>G (n.*684C>G)
c.*3220C>G (n.*3220C>G)
c.*639C>G (n.*639C>G)
c.2301C>G (p.Gly767=)
c.135C>G (p.Gly45=)
c.548C>G
n.2840C>G
c.2667C>G (p.Gly889=)
c.1944C>G (p.Gly648=)
c.495C>G (p.Gly165=)
2g.165344689C>TCA429972154SCN2Ac.2697C>T (p.Gly899=)
c.*1016C>T (n.*1016C>T)
c.*684C>T (n.*684C>T)
c.*3220C>T (n.*3220C>T)
c.*639C>T (n.*639C>T)
c.2301C>T (p.Gly767=)
c.135C>T (p.Gly45=)
c.548C>T
n.2840C>T
c.2667C>T (p.Gly889=)
c.1944C>T (p.Gly648=)
c.495C>T (p.Gly165=)
2g.165344690A=CA1304545495SCN2Ac.2698A= (p.Met900=)
c.*1017A= (n.*1017A=)
c.*685A= (n.*685A=)
c.*3221A= (n.*3221A=)
c.*640A= (n.*640A=)
c.2302A= (p.Met768=)
c.136A= (p.Met46=)
c.549A=
n.2841A=
c.2668A= (p.Met890=)
c.1945A= (p.Met649=)
c.496A= (p.Met166=)
2g.165344690A>CCA349014517SCN2Ac.2698A>C (p.Met900Leu)
c.*1017A>C (n.*1017A>C)
c.*685A>C (n.*685A>C)
c.*3221A>C (n.*3221A>C)
c.*640A>C (n.*640A>C)
c.2302A>C (p.Met768Leu)
c.136A>C (p.Met46Leu)
c.549A>C
n.2841A>C
c.2668A>C (p.Met890Leu)
c.1945A>C (p.Met649Leu)
c.496A>C (p.Met166Leu)
2g.165344690A>GCA59720001SCN2Ac.2698A>G (p.Met900Val)
c.*1017A>G (n.*1017A>G)
c.*685A>G (n.*685A>G)
c.*3221A>G (n.*3221A>G)
c.*640A>G (n.*640A>G)
c.2302A>G (p.Met768Val)
c.136A>G (p.Met46Val)
c.549A>G
n.2841A>G
c.2668A>G (p.Met890Val)
c.1945A>G (p.Met649Val)
c.496A>G (p.Met166Val)
 dbSNP
2g.165344690A>TCA349014526SCN2Ac.2698A>T (p.Met900Leu)
c.*1017A>T (n.*1017A>T)
c.*685A>T (n.*685A>T)
c.*3221A>T (n.*3221A>T)
c.*640A>T (n.*640A>T)
c.2302A>T (p.Met768Leu)
c.136A>T (p.Met46Leu)
c.549A>T
n.2841A>T
c.2668A>T (p.Met890Leu)
c.1945A>T (p.Met649Leu)
c.496A>T (p.Met166Leu)
2g.165344691T>ACA349014529SCN2Ac.2699T>A (p.Met900Lys)
c.*1018T>A (n.*1018T>A)
c.*686T>A (n.*686T>A)
c.*3222T>A (n.*3222T>A)
c.*641T>A (n.*641T>A)
c.2303T>A (p.Met768Lys)
c.137T>A (p.Met46Lys)
c.550T>A
n.2842T>A
c.2669T>A (p.Met890Lys)
c.1946T>A (p.Met649Lys)
c.497T>A (p.Met166Lys)
2g.165344691T>CCA349014537SCN2Ac.2699T>C (p.Met900Thr)
c.*1018T>C (n.*1018T>C)
c.*686T>C (n.*686T>C)
c.*3222T>C (n.*3222T>C)
c.*641T>C (n.*641T>C)
c.2303T>C (p.Met768Thr)
c.137T>C (p.Met46Thr)
c.550T>C
n.2842T>C
c.2669T>C (p.Met890Thr)
c.1946T>C (p.Met649Thr)
c.497T>C (p.Met166Thr)
2g.165344691T>GCA349014540SCN2Ac.2699T>G (p.Met900Arg)
c.*1018T>G (n.*1018T>G)
c.*686T>G (n.*686T>G)
c.*3222T>G (n.*3222T>G)
c.*641T>G (n.*641T>G)
c.2303T>G (p.Met768Arg)
c.137T>G (p.Met46Arg)
c.550T>G
n.2842T>G
c.2669T>G (p.Met890Arg)
c.1946T>G (p.Met649Arg)
c.497T>G (p.Met166Arg)
2g.165344692G>ACA349014563SCN2Ac.2700G>A (p.Met900Ile)
c.*1019G>A (n.*1019G>A)
c.*687G>A (n.*687G>A)
c.*3223G>A (n.*3223G>A)
c.*642G>A (n.*642G>A)
c.2304G>A (p.Met768Ile)
c.138G>A (p.Met46Ile)
c.551G>A
n.2843G>A
c.2670G>A (p.Met890Ile)
c.1947G>A (p.Met649Ile)
c.498G>A (p.Met166Ile)
2g.165344692G>CCA349014544SCN2Ac.2700G>C (p.Met900Ile)
c.*1019G>C (n.*1019G>C)
c.*687G>C (n.*687G>C)
c.*3223G>C (n.*3223G>C)
c.*642G>C (n.*642G>C)
c.2304G>C (p.Met768Ile)
c.138G>C (p.Met46Ile)
c.551G>C
n.2843G>C
c.2670G>C (p.Met890Ile)
c.1947G>C (p.Met649Ile)
c.498G>C (p.Met166Ile)
2g.165344692G>TCA349014560SCN2Ac.2700G>T (p.Met900Ile)
c.*1019G>T (n.*1019G>T)
c.*687G>T (n.*687G>T)
c.*3223G>T (n.*3223G>T)
c.*642G>T (n.*642G>T)
c.2304G>T (p.Met768Ile)
c.138G>T (p.Met46Ile)
c.551G>T
n.2843G>T
c.2670G>T (p.Met890Ile)
c.1947G>T (p.Met649Ile)
c.498G>T (p.Met166Ile)
2g.165344693C>ACA349014568SCN2Ac.2701C>A (p.Gln901Lys)
c.*1020C>A (n.*1020C>A)
c.*688C>A (n.*688C>A)
c.*3224C>A (n.*3224C>A)
c.*643C>A (n.*643C>A)
c.2305C>A (p.Gln769Lys)
c.139C>A (p.Gln47Lys)
c.552C>A
n.2844C>A
c.2671C>A (p.Gln891Lys)
c.1948C>A (p.Gln650Lys)
c.499C>A (p.Gln167Lys)
2g.165344693C=CA1304545496SCN2Ac.2701C= (p.Gln901=)
c.*1020C= (n.*1020C=)
c.*688C= (n.*688C=)
c.*3224C= (n.*3224C=)
c.*643C= (n.*643C=)
c.2305C= (p.Gln769=)
c.139C= (p.Gln47=)
c.552C=
n.2844C=
c.2671C= (p.Gln891=)
c.1948C= (p.Gln650=)
c.499C= (p.Gln167=)
2g.165344693C>GCA349014581SCN2Ac.2701C>G (p.Gln901Glu)
c.*1020C>G (n.*1020C>G)
c.*688C>G (n.*688C>G)
c.*3224C>G (n.*3224C>G)
c.*643C>G (n.*643C>G)
c.2305C>G (p.Gln769Glu)
c.139C>G (p.Gln47Glu)
c.552C>G
n.2844C>G
c.2671C>G (p.Gln891Glu)
c.1948C>G (p.Gln650Glu)
c.499C>G (p.Gln167Glu)
 ClinVar dbSNP
2g.165344693C>TCA349014572SCN2Ac.2701C>T (p.Gln901Ter)
c.*1020C>T (n.*1020C>T)
c.*688C>T (n.*688C>T)
c.*3224C>T (n.*3224C>T)
c.*643C>T (n.*643C>T)
c.2305C>T (p.Gln769Ter)
c.139C>T (p.Gln47Ter)
c.552C>T
n.2844C>T
c.2671C>T (p.Gln891Ter)
c.1948C>T (p.Gln650Ter)
c.499C>T (p.Gln167Ter)
2g.165344694A>CCA349014585SCN2Ac.2702A>C (p.Gln901Pro)
c.*1021A>C (n.*1021A>C)
c.*689A>C (n.*689A>C)
c.*3225A>C (n.*3225A>C)
c.*644A>C (n.*644A>C)
c.2306A>C (p.Gln769Pro)
c.140A>C (p.Gln47Pro)
c.553A>C
n.2845A>C
c.2672A>C (p.Gln891Pro)
c.1949A>C (p.Gln650Pro)
c.500A>C (p.Gln167Pro)
2g.165344694A>GCA349014588SCN2Ac.2702A>G (p.Gln901Arg)
c.*1021A>G (n.*1021A>G)
c.*689A>G (n.*689A>G)
c.*3225A>G (n.*3225A>G)
c.*644A>G (n.*644A>G)
c.2306A>G (p.Gln769Arg)
c.140A>G (p.Gln47Arg)
c.553A>G
n.2845A>G
c.2672A>G (p.Gln891Arg)
c.1949A>G (p.Gln650Arg)
c.500A>G (p.Gln167Arg)
2g.165344694A>TCA349014592SCN2Ac.2702A>T (p.Gln901Leu)
c.*1021A>T (n.*1021A>T)
c.*689A>T (n.*689A>T)
c.*3225A>T (n.*3225A>T)
c.*644A>T (n.*644A>T)
c.2306A>T (p.Gln769Leu)
c.140A>T (p.Gln47Leu)
c.553A>T
n.2845A>T
c.2672A>T (p.Gln891Leu)
c.1949A>T (p.Gln650Leu)
c.500A>T (p.Gln167Leu)
2g.165344695G>ACA429972176SCN2Ac.2703G>A (p.Gln901=)
c.*1022G>A (n.*1022G>A)
c.*690G>A (n.*690G>A)
c.*3226G>A (n.*3226G>A)
c.*645G>A (n.*645G>A)
c.2307G>A (p.Gln769=)
c.141G>A (p.Gln47=)
c.554G>A
n.2846G>A
c.2673G>A (p.Gln891=)
c.1950G>A (p.Gln650=)
c.501G>A (p.Gln167=)
2g.165344695G>CCA349014595SCN2Ac.2703G>C (p.Gln901His)
c.*1022G>C (n.*1022G>C)
c.*690G>C (n.*690G>C)
c.*3226G>C (n.*3226G>C)
c.*645G>C (n.*645G>C)
c.2307G>C (p.Gln769His)
c.141G>C (p.Gln47His)
c.554G>C
n.2846G>C
c.2673G>C (p.Gln891His)
c.1950G>C (p.Gln650His)
c.501G>C (p.Gln167His)
 ClinVar
2g.165344695G>TCA349014597SCN2Ac.2703G>T (p.Gln901His)
c.*1022G>T (n.*1022G>T)
c.*690G>T (n.*690G>T)
c.*3226G>T (n.*3226G>T)
c.*645G>T (n.*645G>T)
c.2307G>T (p.Gln769His)
c.141G>T (p.Gln47His)
c.554G>T
n.2846G>T
c.2673G>T (p.Gln891His)
c.1950G>T (p.Gln650His)
c.501G>T (p.Gln167His)
2g.165344696C>ACA349014625SCN2Ac.2704C>A (p.Leu902Ile)
c.*1023C>A (n.*1023C>A)
c.*691C>A (n.*691C>A)
c.*3227C>A (n.*3227C>A)
c.*646C>A (n.*646C>A)
c.2308C>A (p.Leu770Ile)
c.142C>A (p.Leu48Ile)
c.555C>A
n.2847C>A
c.2674C>A (p.Leu892Ile)
c.1951C>A (p.Leu651Ile)
c.502C>A (p.Leu168Ile)
2g.165344696C>GCA349014629SCN2Ac.2704C>G (p.Leu902Val)
c.*1023C>G (n.*1023C>G)
c.*691C>G (n.*691C>G)
c.*3227C>G (n.*3227C>G)
c.*646C>G (n.*646C>G)
c.2308C>G (p.Leu770Val)
c.142C>G (p.Leu48Val)
c.555C>G
n.2847C>G
c.2674C>G (p.Leu892Val)
c.1951C>G (p.Leu651Val)
c.502C>G (p.Leu168Val)
2g.165344696C>TCA349014633SCN2Ac.2704C>T (p.Leu902Phe)
c.*1023C>T (n.*1023C>T)
c.*691C>T (n.*691C>T)
c.*3227C>T (n.*3227C>T)
c.*646C>T (n.*646C>T)
c.2308C>T (p.Leu770Phe)
c.142C>T (p.Leu48Phe)
c.555C>T
n.2847C>T
c.2674C>T (p.Leu892Phe)
c.1951C>T (p.Leu651Phe)
c.502C>T (p.Leu168Phe)
2g.165344697T>ACA349014635SCN2Ac.2705T>A (p.Leu902His)
c.*1024T>A (n.*1024T>A)
c.*692T>A (n.*692T>A)
c.*3228T>A (n.*3228T>A)
c.*647T>A (n.*647T>A)
c.2309T>A (p.Leu770His)
c.143T>A (p.Leu48His)
c.556T>A
n.2848T>A
c.2675T>A (p.Leu892His)
c.1952T>A (p.Leu651His)
c.503T>A (p.Leu168His)
2g.165344697T>CCA349014637SCN2Ac.2705T>C (p.Leu902Pro)
c.*1024T>C (n.*1024T>C)
c.*692T>C (n.*692T>C)
c.*3228T>C (n.*3228T>C)
c.*647T>C (n.*647T>C)
c.2309T>C (p.Leu770Pro)
c.143T>C (p.Leu48Pro)
c.556T>C
n.2848T>C
c.2675T>C (p.Leu892Pro)
c.1952T>C (p.Leu651Pro)
c.503T>C (p.Leu168Pro)
2g.165344697T>GCA349014636SCN2Ac.2705T>G (p.Leu902Arg)
c.*1024T>G (n.*1024T>G)
c.*692T>G (n.*692T>G)
c.*3228T>G (n.*3228T>G)
c.*647T>G (n.*647T>G)
c.2309T>G (p.Leu770Arg)
c.143T>G (p.Leu48Arg)
c.556T>G
n.2848T>G
c.2675T>G (p.Leu892Arg)
c.1952T>G (p.Leu651Arg)
c.503T>G (p.Leu168Arg)
2g.165344698C>ACA429972188SCN2Ac.2706C>A (p.Leu902=)
c.*1025C>A (n.*1025C>A)
c.*693C>A (n.*693C>A)
c.*3229C>A (n.*3229C>A)
c.*648C>A (n.*648C>A)
c.2310C>A (p.Leu770=)
c.144C>A (p.Leu48=)
c.557C>A
n.2849C>A
c.2676C>A (p.Leu892=)
c.1953C>A (p.Leu651=)
c.504C>A (p.Leu168=)
2g.165344698C=CA1304545497SCN2Ac.2706C= (p.Leu902=)
c.*1025C= (n.*1025C=)
c.*693C= (n.*693C=)
c.*3229C= (n.*3229C=)
c.*648C= (n.*648C=)
c.2310C= (p.Leu770=)
c.144C= (p.Leu48=)
c.557C=
n.2849C=
c.2676C= (p.Leu892=)
c.1953C= (p.Leu651=)
c.504C= (p.Leu168=)
2g.165344698C>GCA1940014SCN2Ac.2706C>G (p.Leu902=)
c.*1025C>G (n.*1025C>G)
c.*693C>G (n.*693C>G)
c.*3229C>G (n.*3229C>G)
c.*648C>G (n.*648C>G)
c.2310C>G (p.Leu770=)
c.144C>G (p.Leu48=)
c.557C>G
n.2849C>G
c.2676C>G (p.Leu892=)
c.1953C>G (p.Leu651=)
c.504C>G (p.Leu168=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched