Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.165097338G>ACA349025423SCN3Ac.4102C>T (p.Gln1368Ter)
c.4153C>T (p.Gln1385Ter)
c.*1994C>T (n.*1994C>T)
c.*887C>T (n.*887C>T)
c.2362C>T (n.2362C>T)
c.4006C>T (p.Gln1336Ter)
n.277C>T
c.2263C>T (p.Gln755Ter)
c.4015C>T (p.Gln1339Ter)
dbSNP
2g.165097338G>CCA1938639SCN3Ac.4102C>G (p.Gln1368Glu)
c.4153C>G (p.Gln1385Glu)
c.*1994C>G (n.*1994C>G)
c.*887C>G (n.*887C>G)
c.2362C>G (n.2362C>G)
c.4006C>G (p.Gln1336Glu)
n.277C>G
c.2263C>G (p.Gln755Glu)
c.4015C>G (p.Gln1339Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165097338G=CA1304438436SCN3Ac.4102C= (p.Gln1368=)
c.4153C= (p.Gln1385=)
c.*1994C= (n.*1994C=)
c.*887C= (n.*887C=)
c.2362C= (n.2362C=)
c.4006C= (p.Gln1336=)
n.277C=
c.2263C= (p.Gln755=)
c.4015C= (p.Gln1339=)
2g.165097338G>TCA349025429SCN3Ac.4102C>A (p.Gln1368Lys)
c.4153C>A (p.Gln1385Lys)
c.*1994C>A (n.*1994C>A)
c.*887C>A (n.*887C>A)
c.2362C>A (n.2362C>A)
c.4006C>A (p.Gln1336Lys)
n.277C>A
c.2263C>A (p.Gln755Lys)
c.4015C>A (p.Gln1339Lys)
2g.165097339A=CA1304438438SCN3Ac.4101T= (p.Cys1367=)
c.4152T= (p.Cys1384=)
c.*1993T= (n.*1993T=)
c.*886T= (n.*886T=)
c.2361T= (n.2361T=)
c.4005T= (p.Cys1335=)
n.276T=
c.2262T= (p.Cys754=)
c.4014T= (p.Cys1338=)
2g.165097339A>CCA349025432SCN3Ac.4101T>G (p.Cys1367Trp)
c.4152T>G (p.Cys1384Trp)
c.*1993T>G (n.*1993T>G)
c.*886T>G (n.*886T>G)
c.2361T>G (n.2361T>G)
c.4005T>G (p.Cys1335Trp)
n.276T>G
c.2262T>G (p.Cys754Trp)
c.4014T>G (p.Cys1338Trp)
2g.165097339A>GCA429880837SCN3Ac.4101T>C (p.Cys1367=)
c.4152T>C (p.Cys1384=)
c.*1993T>C (n.*1993T>C)
c.*886T>C (n.*886T>C)
c.2361T>C (n.2361T>C)
c.4005T>C (p.Cys1335=)
n.276T>C
c.2262T>C (p.Cys754=)
c.4014T>C (p.Cys1338=)
2g.165097339A>TCA349025433SCN3Ac.4101T>A (p.Cys1367Ter)
c.4152T>A (p.Cys1384Ter)
c.*1993T>A (n.*1993T>A)
c.*886T>A (n.*886T>A)
c.2361T>A (n.2361T>A)
c.4005T>A (p.Cys1335Ter)
n.276T>A
c.2262T>A (p.Cys754Ter)
c.4014T>A (p.Cys1338Ter)
dbSNP
2g.165097339_165097343delinsACAGTCA1304438437SCN3Ac.4097_4101delinsACTGT (p.Asp1366=)
c.4148_4152delinsACTGT (p.Asp1383=)
c.*1989_*1993delinsACTGT (n.*1989_*1993delinsACTGT)
c.*882_*886delinsACTGT (n.*882_*886delinsACTGT)
c.2357_2361delinsACTGT (n.2357_2361delinsACTGT)
c.4001_4005delinsACTGT (p.Asp1334=)
n.272_276delinsACTGT
c.2258_2262delinsACTGT (p.Asp753=)
c.4010_4014delinsACTGT (p.Asp1337=)
2g.165097340C>ACA349025435SCN3Ac.4100G>T (p.Cys1367Phe)
c.4151G>T (p.Cys1384Phe)
c.*1992G>T (n.*1992G>T)
c.*885G>T (n.*885G>T)
c.2360G>T (n.2360G>T)
c.4004G>T (p.Cys1335Phe)
n.275G>T
c.2261G>T (p.Cys754Phe)
c.4013G>T (p.Cys1338Phe)
2g.165097340C>GCA349025437SCN3Ac.4100G>C (p.Cys1367Ser)
c.4151G>C (p.Cys1384Ser)
c.*1992G>C (n.*1992G>C)
c.*885G>C (n.*885G>C)
c.2360G>C (n.2360G>C)
c.4004G>C (p.Cys1335Ser)
n.275G>C
c.2261G>C (p.Cys754Ser)
c.4013G>C (p.Cys1338Ser)
2g.165097340C>TCA349025438SCN3Ac.4100G>A (p.Cys1367Tyr)
c.4151G>A (p.Cys1384Tyr)
c.*1992G>A (n.*1992G>A)
c.*885G>A (n.*885G>A)
c.2360G>A (n.2360G>A)
c.4004G>A (p.Cys1335Tyr)
n.275G>A
c.2261G>A (p.Cys754Tyr)
c.4013G>A (p.Cys1338Tyr)
2g.165097342_165097345delCA915942917SCN3Ac.4097_4100del (p.Asp1366ValfsTer13)
c.4148_4151del (p.Asp1383ValfsTer13)
c.*1989_*1992del (n.*1989_*1992del)
c.*882_*885del (n.*882_*885del)
c.2357_2360del (n.2357_2360del)
c.4001_4004del (p.Asp1334ValfsTer13)
n.272_275del
c.2258_2261del (p.Asp753ValfsTer13)
c.4010_4013del (p.Asp1337ValfsTer13)
ClinVar dbSNP
2g.165097341A=CA1304438439SCN3Ac.4099T= (p.Cys1367=)
c.4150T= (p.Cys1384=)
c.*1991T= (n.*1991T=)
c.*884T= (n.*884T=)
c.2359T= (n.2359T=)
c.4003T= (p.Cys1335=)
n.274T=
c.2260T= (p.Cys754=)
c.4012T= (p.Cys1338=)
2g.165097341A>CCA349025439SCN3Ac.4099T>G (p.Cys1367Gly)
c.4150T>G (p.Cys1384Gly)
c.*1991T>G (n.*1991T>G)
c.*884T>G (n.*884T>G)
c.2359T>G (n.2359T>G)
c.4003T>G (p.Cys1335Gly)
n.274T>G
c.2260T>G (p.Cys754Gly)
c.4012T>G (p.Cys1338Gly)
2g.165097341A>GCA1938640SCN3Ac.4099T>C (p.Cys1367Arg)
c.4150T>C (p.Cys1384Arg)
c.*1991T>C (n.*1991T>C)
c.*884T>C (n.*884T>C)
c.2359T>C (n.2359T>C)
c.4003T>C (p.Cys1335Arg)
n.274T>C
c.2260T>C (p.Cys754Arg)
c.4012T>C (p.Cys1338Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.165097341A>TCA349025442SCN3Ac.4099T>A (p.Cys1367Ser)
c.4150T>A (p.Cys1384Ser)
c.*1991T>A (n.*1991T>A)
c.*884T>A (n.*884T>A)
c.2359T>A (n.2359T>A)
c.4003T>A (p.Cys1335Ser)
n.274T>A
c.2260T>A (p.Cys754Ser)
c.4012T>A (p.Cys1338Ser)
gnomAD v4
2g.165097342G>ACA429880838SCN3Ac.4098C>T (p.Asp1366=)
c.4149C>T (p.Asp1383=)
c.*1990C>T (n.*1990C>T)
c.*883C>T (n.*883C>T)
c.2358C>T (n.2358C>T)
c.4002C>T (p.Asp1334=)
n.273C>T
c.2259C>T (p.Asp753=)
c.4011C>T (p.Asp1337=)
gnomAD v4
2g.165097342G>CCA349025444SCN3Ac.4098C>G (p.Asp1366Glu)
c.4149C>G (p.Asp1383Glu)
c.*1990C>G (n.*1990C>G)
c.*883C>G (n.*883C>G)
c.2358C>G (n.2358C>G)
c.4002C>G (p.Asp1334Glu)
n.273C>G
c.2259C>G (p.Asp753Glu)
c.4011C>G (p.Asp1337Glu)
COSMIC COSMIC
2g.165097342G>TCA349025445SCN3Ac.4098C>A (p.Asp1366Glu)
c.4149C>A (p.Asp1383Glu)
c.*1990C>A (n.*1990C>A)
c.*883C>A (n.*883C>A)
c.2358C>A (n.2358C>A)
c.4002C>A (p.Asp1334Glu)
n.273C>A
c.2259C>A (p.Asp753Glu)
c.4011C>A (p.Asp1337Glu)
2g.165097343T>ACA349025448SCN3Ac.4097A>T (p.Asp1366Val)
c.4148A>T (p.Asp1383Val)
c.*1989A>T (n.*1989A>T)
c.*882A>T (n.*882A>T)
c.2357A>T (n.2357A>T)
c.4001A>T (p.Asp1334Val)
n.272A>T
c.2258A>T (p.Asp753Val)
c.4010A>T (p.Asp1337Val)
2g.165097343T>CCA349025450SCN3Ac.4097A>G (p.Asp1366Gly)
c.4148A>G (p.Asp1383Gly)
c.*1989A>G (n.*1989A>G)
c.*882A>G (n.*882A>G)
c.2357A>G (n.2357A>G)
c.4001A>G (p.Asp1334Gly)
n.272A>G
c.2258A>G (p.Asp753Gly)
c.4010A>G (p.Asp1337Gly)
dbSNP
2g.165097343T>GCA349025449SCN3Ac.4097A>C (p.Asp1366Ala)
c.4148A>C (p.Asp1383Ala)
c.*1989A>C (n.*1989A>C)
c.*882A>C (n.*882A>C)
c.2357A>C (n.2357A>C)
c.4001A>C (p.Asp1334Ala)
n.272A>C
c.2258A>C (p.Asp753Ala)
c.4010A>C (p.Asp1337Ala)
2g.165097344C>ACA349025453SCN3Ac.4096G>T (p.Asp1366Tyr)
c.4147G>T (p.Asp1383Tyr)
c.*1988G>T (n.*1988G>T)
c.*881G>T (n.*881G>T)
c.2356G>T (n.2356G>T)
c.4000G>T (p.Asp1334Tyr)
n.271G>T
c.2257G>T (p.Asp753Tyr)
c.4009G>T (p.Asp1337Tyr)
2g.165097344C>GCA349025455SCN3Ac.4096G>C (p.Asp1366His)
c.4147G>C (p.Asp1383His)
c.*1988G>C (n.*1988G>C)
c.*881G>C (n.*881G>C)
c.2356G>C (n.2356G>C)
c.4000G>C (p.Asp1334His)
n.271G>C
c.2257G>C (p.Asp753His)
c.4009G>C (p.Asp1337His)
2g.165097344C>TCA349025456SCN3Ac.4096G>A (p.Asp1366Asn)
c.4147G>A (p.Asp1383Asn)
c.*1988G>A (n.*1988G>A)
c.*881G>A (n.*881G>A)
c.2356G>A (n.2356G>A)
c.4000G>A (p.Asp1334Asn)
n.271G>A
c.2257G>A (p.Asp753Asn)
c.4009G>A (p.Asp1337Asn)
gnomAD v4
2g.165097345A>CCA349025459SCN3Ac.4095T>G (p.Ser1365Arg)
c.4146T>G (p.Ser1382Arg)
c.*1987T>G (n.*1987T>G)
c.*880T>G (n.*880T>G)
c.2355T>G (n.2355T>G)
c.3999T>G (p.Ser1333Arg)
n.270T>G
c.2256T>G (p.Ser752Arg)
c.4008T>G (p.Ser1336Arg)
2g.165097345A>GCA429880839SCN3Ac.4095T>C (p.Ser1365=)
c.4146T>C (p.Ser1382=)
c.*1987T>C (n.*1987T>C)
c.*880T>C (n.*880T>C)
c.2355T>C (n.2355T>C)
c.3999T>C (p.Ser1333=)
n.270T>C
c.2256T>C (p.Ser752=)
c.4008T>C (p.Ser1336=)
2g.165097345A>TCA349025460SCN3Ac.4095T>A (p.Ser1365Arg)
c.4146T>A (p.Ser1382Arg)
c.*1987T>A (n.*1987T>A)
c.*880T>A (n.*880T>A)
c.2355T>A (n.2355T>A)
c.3999T>A (p.Ser1333Arg)
n.270T>A
c.2256T>A (p.Ser752Arg)
c.4008T>A (p.Ser1336Arg)
2g.165097346C>ACA349025462SCN3Ac.4094G>T (p.Ser1365Ile)
c.4145G>T (p.Ser1382Ile)
c.*1986G>T (n.*1986G>T)
c.*879G>T (n.*879G>T)
c.2354G>T (n.2354G>T)
c.3998G>T (p.Ser1333Ile)
n.269G>T
c.2255G>T (p.Ser752Ile)
c.4007G>T (p.Ser1336Ile)
2g.165097346C>GCA349025464SCN3Ac.4094G>C (p.Ser1365Thr)
c.4145G>C (p.Ser1382Thr)
c.*1986G>C (n.*1986G>C)
c.*879G>C (n.*879G>C)
c.2354G>C (n.2354G>C)
c.3998G>C (p.Ser1333Thr)
n.269G>C
c.2255G>C (p.Ser752Thr)
c.4007G>C (p.Ser1336Thr)
2g.165097346C>TCA349025466SCN3Ac.4094G>A (p.Ser1365Asn)
c.4145G>A (p.Ser1382Asn)
c.*1986G>A (n.*1986G>A)
c.*879G>A (n.*879G>A)
c.2354G>A (n.2354G>A)
c.3998G>A (p.Ser1333Asn)
n.269G>A
c.2255G>A (p.Ser752Asn)
c.4007G>A (p.Ser1336Asn)
2g.165097347T>ACA349025468SCN3Ac.4093A>T (p.Ser1365Cys)
c.4144A>T (p.Ser1382Cys)
c.*1985A>T (n.*1985A>T)
c.*878A>T (n.*878A>T)
c.2353A>T (n.2353A>T)
c.3997A>T (p.Ser1333Cys)
n.268A>T
c.2254A>T (p.Ser752Cys)
c.4006A>T (p.Ser1336Cys)
2g.165097347T>CCA349025469SCN3Ac.4093A>G (p.Ser1365Gly)
c.4144A>G (p.Ser1382Gly)
c.*1985A>G (n.*1985A>G)
c.*878A>G (n.*878A>G)
c.2353A>G (n.2353A>G)
c.3997A>G (p.Ser1333Gly)
n.268A>G
c.2254A>G (p.Ser752Gly)
c.4006A>G (p.Ser1336Gly)
2g.165097347T>GCA349025471SCN3Ac.4093A>C (p.Ser1365Arg)
c.4144A>C (p.Ser1382Arg)
c.*1985A>C (n.*1985A>C)
c.*878A>C (n.*878A>C)
c.2353A>C (n.2353A>C)
c.3997A>C (p.Ser1333Arg)
n.268A>C
c.2254A>C (p.Ser752Arg)
c.4006A>C (p.Ser1336Arg)
2g.165097348C>ACA349025474SCN3Ac.4092G>T (p.Leu1364Phe)
c.4143G>T (p.Leu1381Phe)
c.*1984G>T (n.*1984G>T)
c.*877G>T (n.*877G>T)
c.2352G>T (n.2352G>T)
c.3996G>T (p.Leu1332Phe)
n.267G>T
c.2253G>T (p.Leu751Phe)
c.4005G>T (p.Leu1335Phe)
2g.165097348C>GCA349025473SCN3Ac.4092G>C (p.Leu1364Phe)
c.4143G>C (p.Leu1381Phe)
c.*1984G>C (n.*1984G>C)
c.*877G>C (n.*877G>C)
c.2352G>C (n.2352G>C)
c.3996G>C (p.Leu1332Phe)
n.267G>C
c.2253G>C (p.Leu751Phe)
c.4005G>C (p.Leu1335Phe)
2g.165097348C>TCA429880840SCN3Ac.4092G>A (p.Leu1364=)
c.4143G>A (p.Leu1381=)
c.*1984G>A (n.*1984G>A)
c.*877G>A (n.*877G>A)
c.2352G>A (n.2352G>A)
c.3996G>A (p.Leu1332=)
n.267G>A
c.2253G>A (p.Leu751=)
c.4005G>A (p.Leu1335=)
2g.165097349A=CA1304438440SCN3Ac.4091T= (p.Leu1364=)
c.4142T= (p.Leu1381=)
c.*1983T= (n.*1983T=)
c.*876T= (n.*876T=)
c.2351T= (n.2351T=)
c.3995T= (p.Leu1332=)
n.266T=
c.2252T= (p.Leu751=)
c.4004T= (p.Leu1335=)
2g.165097349A>CCA349025476SCN3Ac.4091T>G (p.Leu1364Trp)
c.4142T>G (p.Leu1381Trp)
c.*1983T>G (n.*1983T>G)
c.*876T>G (n.*876T>G)
c.2351T>G (n.2351T>G)
c.3995T>G (p.Leu1332Trp)
n.266T>G
c.2252T>G (p.Leu751Trp)
c.4004T>G (p.Leu1335Trp)
2g.165097349A>GCA349025477SCN3Ac.4091T>C (p.Leu1364Ser)
c.4142T>C (p.Leu1381Ser)
c.*1983T>C (n.*1983T>C)
c.*876T>C (n.*876T>C)
c.2351T>C (n.2351T>C)
c.3995T>C (p.Leu1332Ser)
n.266T>C
c.2252T>C (p.Leu751Ser)
c.4004T>C (p.Leu1335Ser)
2g.165097349A>TCA349025479SCN3Ac.4091T>A (p.Leu1364Ter)
c.4142T>A (p.Leu1381Ter)
c.*1983T>A (n.*1983T>A)
c.*876T>A (n.*876T>A)
c.2351T>A (n.2351T>A)
c.3995T>A (p.Leu1332Ter)
n.266T>A
c.2252T>A (p.Leu751Ter)
c.4004T>A (p.Leu1335Ter)
dbSNP
2g.165097350A>CCA349025481SCN3Ac.4090T>G (p.Leu1364Val)
c.4141T>G (p.Leu1381Val)
c.*1982T>G (n.*1982T>G)
c.*875T>G (n.*875T>G)
c.2350T>G (n.2350T>G)
c.3994T>G (p.Leu1332Val)
n.265T>G
c.2251T>G (p.Leu751Val)
c.4003T>G (p.Leu1335Val)
2g.165097350A>GCA429880841SCN3Ac.4090T>C (p.Leu1364=)
c.4141T>C (p.Leu1381=)
c.*1982T>C (n.*1982T>C)
c.*875T>C (n.*875T>C)
c.2350T>C (n.2350T>C)
c.3994T>C (p.Leu1332=)
n.265T>C
c.2251T>C (p.Leu751=)
c.4003T>C (p.Leu1335=)
gnomAD v4
2g.165097350A>TCA349025482SCN3Ac.4090T>A (p.Leu1364Met)
c.4141T>A (p.Leu1381Met)
c.*1982T>A (n.*1982T>A)
c.*875T>A (n.*875T>A)
c.2350T>A (n.2350T>A)
c.3994T>A (p.Leu1332Met)
n.265T>A
c.2251T>A (p.Leu751Met)
c.4003T>A (p.Leu1335Met)
gnomAD v4
2g.165097351A>CCA349025483SCN3Ac.4089T>G (p.Asn1363Lys)
c.4140T>G (p.Asn1380Lys)
c.*1981T>G (n.*1981T>G)
c.*874T>G (n.*874T>G)
c.2349T>G (n.2349T>G)
c.3993T>G (p.Asn1331Lys)
n.264T>G
c.2250T>G (p.Asn750Lys)
c.4002T>G (p.Asn1334Lys)
2g.165097351A>GCA429880842SCN3Ac.4089T>C (p.Asn1363=)
c.4140T>C (p.Asn1380=)
c.*1981T>C (n.*1981T>C)
c.*874T>C (n.*874T>C)
c.2349T>C (n.2349T>C)
c.3993T>C (p.Asn1331=)
n.264T>C
c.2250T>C (p.Asn750=)
c.4002T>C (p.Asn1334=)
2g.165097351A>TCA349025485SCN3Ac.4089T>A (p.Asn1363Lys)
c.4140T>A (p.Asn1380Lys)
c.*1981T>A (n.*1981T>A)
c.*874T>A (n.*874T>A)
c.2349T>A (n.2349T>A)
c.3993T>A (p.Asn1331Lys)
n.264T>A
c.2250T>A (p.Asn750Lys)
c.4002T>A (p.Asn1334Lys)
2g.165097352T>ACA349025490SCN3Ac.4088A>T (p.Asn1363Ile)
c.4139A>T (p.Asn1380Ile)
c.*1980A>T (n.*1980A>T)
c.*873A>T (n.*873A>T)
c.2348A>T (n.2348A>T)
c.3992A>T (p.Asn1331Ile)
n.263A>T
c.2249A>T (p.Asn750Ile)
c.4001A>T (p.Asn1334Ile)
2g.165097352T>CCA349025488SCN3Ac.4088A>G (p.Asn1363Ser)
c.4139A>G (p.Asn1380Ser)
c.*1980A>G (n.*1980A>G)
c.*873A>G (n.*873A>G)
c.2348A>G (n.2348A>G)
c.3992A>G (p.Asn1331Ser)
n.263A>G
c.2249A>G (p.Asn750Ser)
c.4001A>G (p.Asn1334Ser)
2g.165097352T>GCA349025489SCN3Ac.4088A>C (p.Asn1363Thr)
c.4139A>C (p.Asn1380Thr)
c.*1980A>C (n.*1980A>C)
c.*873A>C (n.*873A>C)
c.2348A>C (n.2348A>C)
c.3992A>C (p.Asn1331Thr)
n.263A>C
c.2249A>C (p.Asn750Thr)
c.4001A>C (p.Asn1334Thr)
2g.165097353T>ACA349025493SCN3Ac.4087A>T (p.Asn1363Tyr)
c.4138A>T (p.Asn1380Tyr)
c.*1979A>T (n.*1979A>T)
c.*872A>T (n.*872A>T)
c.2347A>T (n.2347A>T)
c.3991A>T (p.Asn1331Tyr)
n.262A>T
c.2248A>T (p.Asn750Tyr)
c.4000A>T (p.Asn1334Tyr)
2g.165097353T>CCA349025495SCN3Ac.4087A>G (p.Asn1363Asp)
c.4138A>G (p.Asn1380Asp)
c.*1979A>G (n.*1979A>G)
c.*872A>G (n.*872A>G)
c.2347A>G (n.2347A>G)
c.3991A>G (p.Asn1331Asp)
n.262A>G
c.2248A>G (p.Asn750Asp)
c.4000A>G (p.Asn1334Asp)
2g.165097353T>GCA349025496SCN3Ac.4087A>C (p.Asn1363His)
c.4138A>C (p.Asn1380His)
c.*1979A>C (n.*1979A>C)
c.*872A>C (n.*872A>C)
c.2347A>C (n.2347A>C)
c.3991A>C (p.Asn1331His)
n.262A>C
c.2248A>C (p.Asn750His)
c.4000A>C (p.Asn1334His)
2g.165097354G>ACA429880843SCN3Ac.4086C>T (p.Asn1362=)
c.4137C>T (p.Asn1379=)
c.*1978C>T (n.*1978C>T)
c.*871C>T (n.*871C>T)
c.2346C>T (n.2346C>T)
c.3990C>T (p.Asn1330=)
n.261C>T
c.2247C>T (p.Asn749=)
c.3999C>T (p.Asn1333=)
2g.165097354G>CCA349025498SCN3Ac.4086C>G (p.Asn1362Lys)
c.4137C>G (p.Asn1379Lys)
c.*1978C>G (n.*1978C>G)
c.*871C>G (n.*871C>G)
c.2346C>G (n.2346C>G)
c.3990C>G (p.Asn1330Lys)
n.261C>G
c.2247C>G (p.Asn749Lys)
c.3999C>G (p.Asn1333Lys)
ClinVar dbSNP gnomAD v4
2g.165097354G=CA1304438441SCN3Ac.4086C= (p.Asn1362=)
c.4137C= (p.Asn1379=)
c.*1978C= (n.*1978C=)
c.*871C= (n.*871C=)
c.2346C= (n.2346C=)
c.3990C= (p.Asn1330=)
n.261C=
c.2247C= (p.Asn749=)
c.3999C= (p.Asn1333=)
2g.165097354G>TCA349025500SCN3Ac.4086C>A (p.Asn1362Lys)
c.4137C>A (p.Asn1379Lys)
c.*1978C>A (n.*1978C>A)
c.*871C>A (n.*871C>A)
c.2346C>A (n.2346C>A)
c.3990C>A (p.Asn1330Lys)
n.261C>A
c.2247C>A (p.Asn749Lys)
c.3999C>A (p.Asn1333Lys)
dbSNP gnomAD v3 gnomAD v4
2g.165097355T>ACA349025501SCN3Ac.4085A>T (p.Asn1362Ile)
c.4136A>T (p.Asn1379Ile)
c.*1977A>T (n.*1977A>T)
c.*870A>T (n.*870A>T)
c.2345A>T (n.2345A>T)
c.3989A>T (p.Asn1330Ile)
n.260A>T
c.2246A>T (p.Asn749Ile)
c.3998A>T (p.Asn1333Ile)
2g.165097355T>CCA349025505SCN3Ac.4085A>G (p.Asn1362Ser)
c.4136A>G (p.Asn1379Ser)
c.*1977A>G (n.*1977A>G)
c.*870A>G (n.*870A>G)
c.2345A>G (n.2345A>G)
c.3989A>G (p.Asn1330Ser)
n.260A>G
c.2246A>G (p.Asn749Ser)
c.3998A>G (p.Asn1333Ser)
2g.165097355T>GCA349025503SCN3Ac.4085A>C (p.Asn1362Thr)
c.4136A>C (p.Asn1379Thr)
c.*1977A>C (n.*1977A>C)
c.*870A>C (n.*870A>C)
c.2345A>C (n.2345A>C)
c.3989A>C (p.Asn1330Thr)
n.260A>C
c.2246A>C (p.Asn749Thr)
c.3998A>C (p.Asn1333Thr)
2g.165097356T>ACA349025507SCN3Ac.4084A>T (p.Asn1362Tyr)
c.4135A>T (p.Asn1379Tyr)
c.*1976A>T (n.*1976A>T)
c.*869A>T (n.*869A>T)
c.2344A>T (n.2344A>T)
c.3988A>T (p.Asn1330Tyr)
n.259A>T
c.2245A>T (p.Asn749Tyr)
c.3997A>T (p.Asn1333Tyr)
2g.165097356T>CCA349025510SCN3Ac.4084A>G (p.Asn1362Asp)
c.4135A>G (p.Asn1379Asp)
c.*1976A>G (n.*1976A>G)
c.*869A>G (n.*869A>G)
c.2344A>G (n.2344A>G)
c.3988A>G (p.Asn1330Asp)
n.259A>G
c.2245A>G (p.Asn749Asp)
c.3997A>G (p.Asn1333Asp)
2g.165097356T>GCA349025512SCN3Ac.4084A>C (p.Asn1362His)
c.4135A>C (p.Asn1379His)
c.*1976A>C (n.*1976A>C)
c.*869A>C (n.*869A>C)
c.2344A>C (n.2344A>C)
c.3988A>C (p.Asn1330His)
n.259A>C
c.2245A>C (p.Asn749His)
c.3997A>C (p.Asn1333His)
2g.165097357A>CCA429880844SCN3Ac.4083T>G (p.Val1361=)
c.4134T>G (p.Val1378=)
c.*1975T>G (n.*1975T>G)
c.*868T>G (n.*868T>G)
c.2343T>G (n.2343T>G)
c.3987T>G (p.Val1329=)
n.258T>G
c.2244T>G (p.Val748=)
c.3996T>G (p.Val1332=)
2g.165097357A>GCA429880845SCN3Ac.4083T>C (p.Val1361=)
c.4134T>C (p.Val1378=)
c.*1975T>C (n.*1975T>C)
c.*868T>C (n.*868T>C)
c.2343T>C (n.2343T>C)
c.3987T>C (p.Val1329=)
n.258T>C
c.2244T>C (p.Val748=)
c.3996T>C (p.Val1332=)
2g.165097357A>TCA429880846SCN3Ac.4083T>A (p.Val1361=)
c.4134T>A (p.Val1378=)
c.*1975T>A (n.*1975T>A)
c.*868T>A (n.*868T>A)
c.2343T>A (n.2343T>A)
c.3987T>A (p.Val1329=)
n.258T>A
c.2244T>A (p.Val748=)
c.3996T>A (p.Val1332=)
2g.165097358A>CCA349025513SCN3Ac.4082T>G (p.Val1361Gly)
c.4133T>G (p.Val1378Gly)
c.*1974T>G (n.*1974T>G)
c.*867T>G (n.*867T>G)
c.2342T>G (n.2342T>G)
c.3986T>G (p.Val1329Gly)
n.257T>G
c.2243T>G (p.Val748Gly)
c.3995T>G (p.Val1332Gly)
2g.165097358A>GCA349025514SCN3Ac.4082T>C (p.Val1361Ala)
c.4133T>C (p.Val1378Ala)
c.*1974T>C (n.*1974T>C)
c.*867T>C (n.*867T>C)
c.2342T>C (n.2342T>C)
c.3986T>C (p.Val1329Ala)
n.257T>C
c.2243T>C (p.Val748Ala)
c.3995T>C (p.Val1332Ala)
2g.165097358A>TCA349025515SCN3Ac.4082T>A (p.Val1361Asp)
c.4133T>A (p.Val1378Asp)
c.*1974T>A (n.*1974T>A)
c.*867T>A (n.*867T>A)
c.2342T>A (n.2342T>A)
c.3986T>A (p.Val1329Asp)
n.257T>A
c.2243T>A (p.Val748Asp)
c.3995T>A (p.Val1332Asp)
2g.165097359C>ACA349025516SCN3Ac.4081G>T (p.Val1361Phe)
c.4132G>T (p.Val1378Phe)
c.*1973G>T (n.*1973G>T)
c.*866G>T (n.*866G>T)
c.2341G>T (n.2341G>T)
c.3985G>T (p.Val1329Phe)
n.256G>T
c.2242G>T (p.Val748Phe)
c.3994G>T (p.Val1332Phe)
2g.165097359C>GCA349025517SCN3Ac.4081G>C (p.Val1361Leu)
c.4132G>C (p.Val1378Leu)
c.*1973G>C (n.*1973G>C)
c.*866G>C (n.*866G>C)
c.2341G>C (n.2341G>C)
c.3985G>C (p.Val1329Leu)
n.256G>C
c.2242G>C (p.Val748Leu)
c.3994G>C (p.Val1332Leu)
2g.165097359C>TCA349025518SCN3Ac.4081G>A (p.Val1361Ile)
c.4132G>A (p.Val1378Ile)
c.*1973G>A (n.*1973G>A)
c.*866G>A (n.*866G>A)
c.2341G>A (n.2341G>A)
c.3985G>A (p.Val1329Ile)
n.256G>A
c.2242G>A (p.Val748Ile)
c.3994G>A (p.Val1332Ile)
2g.165097360A=CA1304438442SCN3Ac.4080T= (p.Asp1360=)
c.4131T= (p.Asp1377=)
c.*1972T= (n.*1972T=)
c.*865T= (n.*865T=)
c.2340T= (n.2340T=)
c.3984T= (p.Asp1328=)
n.255T=
c.2241T= (p.Asp747=)
c.3993T= (p.Asp1331=)
2g.165097360A>CCA349025519SCN3Ac.4080T>G (p.Asp1360Glu)
c.4131T>G (p.Asp1377Glu)
c.*1972T>G (n.*1972T>G)
c.*865T>G (n.*865T>G)
c.2340T>G (n.2340T>G)
c.3984T>G (p.Asp1328Glu)
n.255T>G
c.2241T>G (p.Asp747Glu)
c.3993T>G (p.Asp1331Glu)
2g.165097360A>GCA59712718SCN3Ac.4080T>C (p.Asp1360=)
c.4131T>C (p.Asp1377=)
c.*1972T>C (n.*1972T>C)
c.*865T>C (n.*865T>C)
c.2340T>C (n.2340T>C)
c.3984T>C (p.Asp1328=)
n.255T>C
c.2241T>C (p.Asp747=)
c.3993T>C (p.Asp1331=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.165097360A>TCA349025520SCN3Ac.4080T>A (p.Asp1360Glu)
c.4131T>A (p.Asp1377Glu)
c.*1972T>A (n.*1972T>A)
c.*865T>A (n.*865T>A)
c.2340T>A (n.2340T>A)
c.3984T>A (p.Asp1328Glu)
n.255T>A
c.2241T>A (p.Asp747Glu)
c.3993T>A (p.Asp1331Glu)
2g.165097361T>ACA349025521SCN3Ac.4079A>T (p.Asp1360Val)
c.4130A>T (p.Asp1377Val)
c.*1971A>T (n.*1971A>T)
c.*864A>T (n.*864A>T)
c.2339A>T (n.2339A>T)
c.3983A>T (p.Asp1328Val)
n.254A>T
c.2240A>T (p.Asp747Val)
c.3992A>T (p.Asp1331Val)
2g.165097361T>CCA349025523SCN3Ac.4079A>G (p.Asp1360Gly)
c.4130A>G (p.Asp1377Gly)
c.*1971A>G (n.*1971A>G)
c.*864A>G (n.*864A>G)
c.2339A>G (n.2339A>G)
c.3983A>G (p.Asp1328Gly)
n.254A>G
c.2240A>G (p.Asp747Gly)
c.3992A>G (p.Asp1331Gly)
2g.165097361T>GCA349025522SCN3Ac.4079A>C (p.Asp1360Ala)
c.4130A>C (p.Asp1377Ala)
c.*1971A>C (n.*1971A>C)
c.*864A>C (n.*864A>C)
c.2339A>C (n.2339A>C)
c.3983A>C (p.Asp1328Ala)
n.254A>C
c.2240A>C (p.Asp747Ala)
c.3992A>C (p.Asp1331Ala)
2g.165097362C>ACA349025524SCN3Ac.4078G>T (p.Asp1360Tyr)
c.4129G>T (p.Asp1377Tyr)
c.*1970G>T (n.*1970G>T)
c.*863G>T (n.*863G>T)
c.2338G>T (n.2338G>T)
c.3982G>T (p.Asp1328Tyr)
n.253G>T
c.2239G>T (p.Asp747Tyr)
c.3991G>T (p.Asp1331Tyr)
2g.165097362C=CA1304438443SCN3Ac.4078G= (p.Asp1360=)
c.4129G= (p.Asp1377=)
c.*1970G= (n.*1970G=)
c.*863G= (n.*863G=)
c.2338G= (n.2338G=)
c.3982G= (p.Asp1328=)
n.253G=
c.2239G= (p.Asp747=)
c.3991G= (p.Asp1331=)
2g.165097362C>GCA349025525SCN3Ac.4078G>C (p.Asp1360His)
c.4129G>C (p.Asp1377His)
c.*1970G>C (n.*1970G>C)
c.*863G>C (n.*863G>C)
c.2338G>C (n.2338G>C)
c.3982G>C (p.Asp1328His)
n.253G>C
c.2239G>C (p.Asp747His)
c.3991G>C (p.Asp1331His)
2g.165097362C>TCA1938641SCN3Ac.4078G>A (p.Asp1360Asn)
c.4129G>A (p.Asp1377Asn)
c.*1970G>A (n.*1970G>A)
c.*863G>A (n.*863G>A)
c.2338G>A (n.2338G>A)
c.3982G>A (p.Asp1328Asn)
n.253G>A
c.2239G>A (p.Asp747Asn)
c.3991G>A (p.Asp1331Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.165097363A>CCA349025526SCN3Ac.4077T>G (p.Ser1359Arg)
c.4128T>G (p.Ser1376Arg)
c.*1969T>G (n.*1969T>G)
c.*862T>G (n.*862T>G)
c.2337T>G (n.2337T>G)
c.3981T>G (p.Ser1327Arg)
n.252T>G
c.2238T>G (p.Ser746Arg)
c.3990T>G (p.Ser1330Arg)
2g.165097363A>GCA429880847SCN3Ac.4077T>C (p.Ser1359=)
c.4128T>C (p.Ser1376=)
c.*1969T>C (n.*1969T>C)
c.*862T>C (n.*862T>C)
c.2337T>C (n.2337T>C)
c.3981T>C (p.Ser1327=)
n.252T>C
c.2238T>C (p.Ser746=)
c.3990T>C (p.Ser1330=)
2g.165097363A>TCA349025527SCN3Ac.4077T>A (p.Ser1359Arg)
c.4128T>A (p.Ser1376Arg)
c.*1969T>A (n.*1969T>A)
c.*862T>A (n.*862T>A)
c.2337T>A (n.2337T>A)
c.3981T>A (p.Ser1327Arg)
n.252T>A
c.2238T>A (p.Ser746Arg)
c.3990T>A (p.Ser1330Arg)
2g.165097364C>ACA349025528SCN3Ac.4076G>T (p.Ser1359Ile)
c.4127G>T (p.Ser1376Ile)
c.*1968G>T (n.*1968G>T)
c.*861G>T (n.*861G>T)
c.2336G>T (n.2336G>T)
c.3980G>T (p.Ser1327Ile)
n.251G>T
c.2237G>T (p.Ser746Ile)
c.3989G>T (p.Ser1330Ile)
2g.165097364C>GCA349025529SCN3Ac.4076G>C (p.Ser1359Thr)
c.4127G>C (p.Ser1376Thr)
c.*1968G>C (n.*1968G>C)
c.*861G>C (n.*861G>C)
c.2336G>C (n.2336G>C)
c.3980G>C (p.Ser1327Thr)
n.251G>C
c.2237G>C (p.Ser746Thr)
c.3989G>C (p.Ser1330Thr)
ClinVar gnomAD v4
2g.165097364C>TCA349025530SCN3Ac.4076G>A (p.Ser1359Asn)
c.4127G>A (p.Ser1376Asn)
c.*1968G>A (n.*1968G>A)
c.*861G>A (n.*861G>A)
c.2336G>A (n.2336G>A)
c.3980G>A (p.Ser1327Asn)
n.251G>A
c.2237G>A (p.Ser746Asn)
c.3989G>A (p.Ser1330Asn)
gnomAD v4
2g.165097365T>ACA349025531SCN3Ac.4075A>T (p.Ser1359Cys)
c.4126A>T (p.Ser1376Cys)
c.*1967A>T (n.*1967A>T)
c.*860A>T (n.*860A>T)
c.2335A>T (n.2335A>T)
c.3979A>T (p.Ser1327Cys)
n.250A>T
c.2236A>T (p.Ser746Cys)
c.3988A>T (p.Ser1330Cys)
2g.165097365T>CCA349025532SCN3Ac.4075A>G (p.Ser1359Gly)
c.4126A>G (p.Ser1376Gly)
c.*1967A>G (n.*1967A>G)
c.*860A>G (n.*860A>G)
c.2335A>G (n.2335A>G)
c.3979A>G (p.Ser1327Gly)
n.250A>G
c.2236A>G (p.Ser746Gly)
c.3988A>G (p.Ser1330Gly)
dbSNP
2g.165097365T>GCA349025533SCN3Ac.4075A>C (p.Ser1359Arg)
c.4126A>C (p.Ser1376Arg)
c.*1967A>C (n.*1967A>C)
c.*860A>C (n.*860A>C)
c.2335A>C (n.2335A>C)
c.3979A>C (p.Ser1327Arg)
n.250A>C
c.2236A>C (p.Ser746Arg)
c.3988A>C (p.Ser1330Arg)
2g.165097365T=CA1304438444SCN3Ac.4075A= (p.Ser1359=)
c.4126A= (p.Ser1376=)
c.*1967A= (n.*1967A=)
c.*860A= (n.*860A=)
c.2335A= (n.2335A=)
c.3979A= (p.Ser1327=)
n.250A=
c.2236A= (p.Ser746=)
c.3988A= (p.Ser1330=)
2g.165097366A>CCA349025534SCN3Ac.4074T>G (p.Ile1358Met)
c.4125T>G (p.Ile1375Met)
c.*1966T>G (n.*1966T>G)
c.*859T>G (n.*859T>G)
c.2334T>G (n.2334T>G)
c.3978T>G (p.Ile1326Met)
n.249T>G
c.2235T>G (p.Ile745Met)
c.3987T>G (p.Ile1329Met)
2g.165097366A>GCA429880848SCN3Ac.4074T>C (p.Ile1358=)
c.4125T>C (p.Ile1375=)
c.*1966T>C (n.*1966T>C)
c.*859T>C (n.*859T>C)
c.2334T>C (n.2334T>C)
c.3978T>C (p.Ile1326=)
n.249T>C
c.2235T>C (p.Ile745=)
c.3987T>C (p.Ile1329=)
2g.165097366A>TCA429880849SCN3Ac.4074T>A (p.Ile1358=)
c.4125T>A (p.Ile1375=)
c.*1966T>A (n.*1966T>A)
c.*859T>A (n.*859T>A)
c.2334T>A (n.2334T>A)
c.3978T>A (p.Ile1326=)
n.249T>A
c.2235T>A (p.Ile745=)
c.3987T>A (p.Ile1329=)
2g.165097367A>CCA349025535SCN3Ac.4073T>G (p.Ile1358Ser)
c.4124T>G (p.Ile1375Ser)
c.*1965T>G (n.*1965T>G)
c.*858T>G (n.*858T>G)
c.2333T>G (n.2333T>G)
c.3977T>G (p.Ile1326Ser)
n.248T>G
c.2234T>G (p.Ile745Ser)
c.3986T>G (p.Ile1329Ser)
2g.165097367A>GCA349025536SCN3Ac.4073T>C (p.Ile1358Thr)
c.4124T>C (p.Ile1375Thr)
c.*1965T>C (n.*1965T>C)
c.*858T>C (n.*858T>C)
c.2333T>C (n.2333T>C)
c.3977T>C (p.Ile1326Thr)
n.248T>C
c.2234T>C (p.Ile745Thr)
c.3986T>C (p.Ile1329Thr)
2g.165097367A>TCA349025537SCN3Ac.4073T>A (p.Ile1358Asn)
c.4124T>A (p.Ile1375Asn)
c.*1965T>A (n.*1965T>A)
c.*858T>A (n.*858T>A)
c.2333T>A (n.2333T>A)
c.3977T>A (p.Ile1326Asn)
n.248T>A
c.2234T>A (p.Ile745Asn)
c.3986T>A (p.Ile1329Asn)
2g.165097368T>ACA1938643SCN3Ac.4072A>T (p.Ile1358Phe)
c.4123A>T (p.Ile1375Phe)
c.*1964A>T (n.*1964A>T)
c.*857A>T (n.*857A>T)
c.2332A>T (n.2332A>T)
c.3976A>T (p.Ile1326Phe)
n.247A>T
c.2233A>T (p.Ile745Phe)
c.3985A>T (p.Ile1329Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165097368T>CCA1938642SCN3Ac.4072A>G (p.Ile1358Val)
c.4123A>G (p.Ile1375Val)
c.*1964A>G (n.*1964A>G)
c.*857A>G (n.*857A>G)
c.2332A>G (n.2332A>G)
c.3976A>G (p.Ile1326Val)
n.247A>G
c.2233A>G (p.Ile745Val)
c.3985A>G (p.Ile1329Val)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.165097368T>GCA349025538SCN3Ac.4072A>C (p.Ile1358Leu)
c.4123A>C (p.Ile1375Leu)
c.*1964A>C (n.*1964A>C)
c.*857A>C (n.*857A>C)
c.2332A>C (n.2332A>C)
c.3976A>C (p.Ile1326Leu)
n.247A>C
c.2233A>C (p.Ile745Leu)
c.3985A>C (p.Ile1329Leu)
2g.165097368T=CA1304438445SCN3Ac.4072A= (p.Ile1358=)
c.4123A= (p.Ile1375=)
c.*1964A= (n.*1964A=)
c.*857A= (n.*857A=)
c.2332A= (n.2332A=)
c.3976A= (p.Ile1326=)
n.247A=
c.2233A= (p.Ile745=)
c.3985A= (p.Ile1329=)
2g.165097369G>ACA429880850SCN3Ac.4071C>T (p.Asp1357=)
c.4122C>T (p.Asp1374=)
c.*1963C>T (n.*1963C>T)
c.*856C>T (n.*856C>T)
c.2331C>T (n.2331C>T)
c.3975C>T (p.Asp1325=)
n.246C>T
c.2232C>T (p.Asp744=)
c.3984C>T (p.Asp1328=)
ClinVar
2g.165097369G>CCA349025539SCN3Ac.4071C>G (p.Asp1357Glu)
c.4122C>G (p.Asp1374Glu)
c.*1963C>G (n.*1963C>G)
c.*856C>G (n.*856C>G)
c.2331C>G (n.2331C>G)
c.3975C>G (p.Asp1325Glu)
n.246C>G
c.2232C>G (p.Asp744Glu)
c.3984C>G (p.Asp1328Glu)
2g.165097369G>TCA349025540SCN3Ac.4071C>A (p.Asp1357Glu)
c.4122C>A (p.Asp1374Glu)
c.*1963C>A (n.*1963C>A)
c.*856C>A (n.*856C>A)
c.2331C>A (n.2331C>A)
c.3975C>A (p.Asp1325Glu)
n.246C>A
c.2232C>A (p.Asp744Glu)
c.3984C>A (p.Asp1328Glu)
2g.165097370T>ACA1938644SCN3Ac.4070A>T (p.Asp1357Val)
c.4121A>T (p.Asp1374Val)
c.*1962A>T (n.*1962A>T)
c.*855A>T (n.*855A>T)
c.2330A>T (n.2330A>T)
c.3974A>T (p.Asp1325Val)
n.245A>T
c.2231A>T (p.Asp744Val)
c.3983A>T (p.Asp1328Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165097370T>CCA349025541SCN3Ac.4070A>G (p.Asp1357Gly)
c.4121A>G (p.Asp1374Gly)
c.*1962A>G (n.*1962A>G)
c.*855A>G (n.*855A>G)
c.2330A>G (n.2330A>G)
c.3974A>G (p.Asp1325Gly)
n.245A>G
c.2231A>G (p.Asp744Gly)
c.3983A>G (p.Asp1328Gly)
2g.165097370T>GCA349025542SCN3Ac.4070A>C (p.Asp1357Ala)
c.4121A>C (p.Asp1374Ala)
c.*1962A>C (n.*1962A>C)
c.*855A>C (n.*855A>C)
c.2330A>C (n.2330A>C)
c.3974A>C (p.Asp1325Ala)
n.245A>C
c.2231A>C (p.Asp744Ala)
c.3983A>C (p.Asp1328Ala)
2g.165097370T=CA1304438446SCN3Ac.4070A= (p.Asp1357=)
c.4121A= (p.Asp1374=)
c.*1962A= (n.*1962A=)
c.*855A= (n.*855A=)
c.2330A= (n.2330A=)
c.3974A= (p.Asp1325=)
n.245A=
c.2231A= (p.Asp744=)
c.3983A= (p.Asp1328=)
2g.165097371C>ACA349025543SCN3Ac.4069G>T (p.Asp1357Tyr)
c.4120G>T (p.Asp1374Tyr)
c.*1961G>T (n.*1961G>T)
c.*854G>T (n.*854G>T)
c.2329G>T (n.2329G>T)
c.3973G>T (p.Asp1325Tyr)
n.244G>T
c.2230G>T (p.Asp744Tyr)
c.3982G>T (p.Asp1328Tyr)
2g.165097371C>GCA349025544SCN3Ac.4069G>C (p.Asp1357His)
c.4120G>C (p.Asp1374His)
c.*1961G>C (n.*1961G>C)
c.*854G>C (n.*854G>C)
c.2329G>C (n.2329G>C)
c.3973G>C (p.Asp1325His)
n.244G>C
c.2230G>C (p.Asp744His)
c.3982G>C (p.Asp1328His)
2g.165097371C>TCA349025545SCN3Ac.4069G>A (p.Asp1357Asn)
c.4120G>A (p.Asp1374Asn)
c.*1961G>A (n.*1961G>A)
c.*854G>A (n.*854G>A)
c.2329G>A (n.2329G>A)
c.3973G>A (p.Asp1325Asn)
n.244G>A
c.2230G>A (p.Asp744Asn)
c.3982G>A (p.Asp1328Asn)
2g.165097372A>CCA349025546SCN3Ac.4068T>G (p.Phe1356Leu)
c.4119T>G (p.Phe1373Leu)
c.*1960T>G (n.*1960T>G)
c.*853T>G (n.*853T>G)
c.2328T>G (n.2328T>G)
c.3972T>G (p.Phe1324Leu)
n.243T>G
c.2229T>G (p.Phe743Leu)
c.3981T>G (p.Phe1327Leu)
2g.165097372A>GCA429880851SCN3Ac.4068T>C (p.Phe1356=)
c.4119T>C (p.Phe1373=)
c.*1960T>C (n.*1960T>C)
c.*853T>C (n.*853T>C)
c.2328T>C (n.2328T>C)
c.3972T>C (p.Phe1324=)
n.243T>C
c.2229T>C (p.Phe743=)
c.3981T>C (p.Phe1327=)
2g.165097372A>TCA349025547SCN3Ac.4068T>A (p.Phe1356Leu)
c.4119T>A (p.Phe1373Leu)
c.*1960T>A (n.*1960T>A)
c.*853T>A (n.*853T>A)
c.2328T>A (n.2328T>A)
c.3972T>A (p.Phe1324Leu)
n.243T>A
c.2229T>A (p.Phe743Leu)
c.3981T>A (p.Phe1327Leu)
2g.165097373A>CCA349025548SCN3Ac.4067T>G (p.Phe1356Cys)
c.4118T>G (p.Phe1373Cys)
c.*1959T>G (n.*1959T>G)
c.*852T>G (n.*852T>G)
c.2327T>G (n.2327T>G)
c.3971T>G (p.Phe1324Cys)
n.242T>G
c.2228T>G (p.Phe743Cys)
c.3980T>G (p.Phe1327Cys)
2g.165097373A>GCA349025549SCN3Ac.4067T>C (p.Phe1356Ser)
c.4118T>C (p.Phe1373Ser)
c.*1959T>C (n.*1959T>C)
c.*852T>C (n.*852T>C)
c.2327T>C (n.2327T>C)
c.3971T>C (p.Phe1324Ser)
n.242T>C
c.2228T>C (p.Phe743Ser)
c.3980T>C (p.Phe1327Ser)
2g.165097373A>TCA349025550SCN3Ac.4067T>A (p.Phe1356Tyr)
c.4118T>A (p.Phe1373Tyr)
c.*1959T>A (n.*1959T>A)
c.*852T>A (n.*852T>A)
c.2327T>A (n.2327T>A)
c.3971T>A (p.Phe1324Tyr)
n.242T>A
c.2228T>A (p.Phe743Tyr)
c.3980T>A (p.Phe1327Tyr)
2g.165097374A=CA1304438447SCN3Ac.4066T= (p.Phe1356=)
c.4117T= (p.Phe1373=)
c.*1958T= (n.*1958T=)
c.*851T= (n.*851T=)
c.2326T= (n.2326T=)
c.3970T= (p.Phe1324=)
n.241T=
c.2227T= (p.Phe743=)
c.3979T= (p.Phe1327=)
2g.165097374A>CCA349025552SCN3Ac.4066T>G (p.Phe1356Val)
c.4117T>G (p.Phe1373Val)
c.*1958T>G (n.*1958T>G)
c.*851T>G (n.*851T>G)
c.2326T>G (n.2326T>G)
c.3970T>G (p.Phe1324Val)
n.241T>G
c.2227T>G (p.Phe743Val)
c.3979T>G (p.Phe1327Val)
2g.165097374A>GCA59712741SCN3Ac.4066T>C (p.Phe1356Leu)
c.4117T>C (p.Phe1373Leu)
c.*1958T>C (n.*1958T>C)
c.*851T>C (n.*851T>C)
c.2326T>C (n.2326T>C)
c.3970T>C (p.Phe1324Leu)
n.241T>C
c.2227T>C (p.Phe743Leu)
c.3979T>C (p.Phe1327Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.165097374A>TCA349025551SCN3Ac.4066T>A (p.Phe1356Ile)
c.4117T>A (p.Phe1373Ile)
c.*1958T>A (n.*1958T>A)
c.*851T>A (n.*851T>A)
c.2326T>A (n.2326T>A)
c.3970T>A (p.Phe1324Ile)
n.241T>A
c.2227T>A (p.Phe743Ile)
c.3979T>A (p.Phe1327Ile)
2g.165097375C>ACA349025553SCN3Ac.4065G>T (p.Met1355Ile)
c.4116G>T (p.Met1372Ile)
c.*1957G>T (n.*1957G>T)
c.*850G>T (n.*850G>T)
c.2325G>T (n.2325G>T)
c.3969G>T (p.Met1323Ile)
n.240G>T
c.2226G>T (p.Met742Ile)
c.3978G>T (p.Met1326Ile)
COSMIC COSMIC
2g.165097375C>GCA349025554SCN3Ac.4065G>C (p.Met1355Ile)
c.4116G>C (p.Met1372Ile)
c.*1957G>C (n.*1957G>C)
c.*850G>C (n.*850G>C)
c.2325G>C (n.2325G>C)
c.3969G>C (p.Met1323Ile)
n.240G>C
c.2226G>C (p.Met742Ile)
c.3978G>C (p.Met1326Ile)
2g.165097375C>TCA349025555SCN3Ac.4065G>A (p.Met1355Ile)
c.4116G>A (p.Met1372Ile)
c.*1957G>A (n.*1957G>A)
c.*850G>A (n.*850G>A)
c.2325G>A (n.2325G>A)
c.3969G>A (p.Met1323Ile)
n.240G>A
c.2226G>A (p.Met742Ile)
c.3978G>A (p.Met1326Ile)
2g.165097376A>CCA349025556SCN3Ac.4064T>G (p.Met1355Arg)
c.4115T>G (p.Met1372Arg)
c.*1956T>G (n.*1956T>G)
c.*849T>G (n.*849T>G)
c.2324T>G (n.2324T>G)
c.3968T>G (p.Met1323Arg)
n.239T>G
c.2225T>G (p.Met742Arg)
c.3977T>G (p.Met1326Arg)
2g.165097376A>GCA349025557SCN3Ac.4064T>C (p.Met1355Thr)
c.4115T>C (p.Met1372Thr)
c.*1956T>C (n.*1956T>C)
c.*849T>C (n.*849T>C)
c.2324T>C (n.2324T>C)
c.3968T>C (p.Met1323Thr)
n.239T>C
c.2225T>C (p.Met742Thr)
c.3977T>C (p.Met1326Thr)
gnomAD v4
2g.165097376A>TCA349025558SCN3Ac.4064T>A (p.Met1355Lys)
c.4115T>A (p.Met1372Lys)
c.*1956T>A (n.*1956T>A)
c.*849T>A (n.*849T>A)
c.2324T>A (n.2324T>A)
c.3968T>A (p.Met1323Lys)
n.239T>A
c.2225T>A (p.Met742Lys)
c.3977T>A (p.Met1326Lys)
gnomAD v4
2g.165097377T>ACA349025559SCN3Ac.4063A>T (p.Met1355Leu)
c.4114A>T (p.Met1372Leu)
c.*1955A>T (n.*1955A>T)
c.*848A>T (n.*848A>T)
c.2323A>T (n.2323A>T)
c.3967A>T (p.Met1323Leu)
n.238A>T
c.2224A>T (p.Met742Leu)
c.3976A>T (p.Met1326Leu)
2g.165097377T>CCA1938645SCN3Ac.4063A>G (p.Met1355Val)
c.4114A>G (p.Met1372Val)
c.*1955A>G (n.*1955A>G)
c.*848A>G (n.*848A>G)
c.2323A>G (n.2323A>G)
c.3967A>G (p.Met1323Val)
n.238A>G
c.2224A>G (p.Met742Val)
c.3976A>G (p.Met1326Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165097377T>GCA349025560SCN3Ac.4063A>C (p.Met1355Leu)
c.4114A>C (p.Met1372Leu)
c.*1955A>C (n.*1955A>C)
c.*848A>C (n.*848A>C)
c.2323A>C (n.2323A>C)
c.3967A>C (p.Met1323Leu)
n.238A>C
c.2224A>C (p.Met742Leu)
c.3976A>C (p.Met1326Leu)
2g.165097377T=CA1304438448SCN3Ac.4063A= (p.Met1355=)
c.4114A= (p.Met1372=)
c.*1955A= (n.*1955A=)
c.*848A= (n.*848A=)
c.2323A= (n.2323A=)
c.3967A= (p.Met1323=)
n.238A=
c.2224A= (p.Met742=)
c.3976A= (p.Met1326=)
2g.165097378G>ACA1938646SCN3Ac.4062C>T (p.Asn1354=)
c.4113C>T (p.Asn1371=)
c.*1954C>T (n.*1954C>T)
c.*847C>T (n.*847C>T)
c.2322C>T (n.2322C>T)
c.3966C>T (p.Asn1322=)
n.237C>T
c.2223C>T (p.Asn741=)
c.3975C>T (p.Asn1325=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165097378G>CCA349025561SCN3Ac.4062C>G (p.Asn1354Lys)
c.4113C>G (p.Asn1371Lys)
c.*1954C>G (n.*1954C>G)
c.*847C>G (n.*847C>G)
c.2322C>G (n.2322C>G)
c.3966C>G (p.Asn1322Lys)
n.237C>G
c.2223C>G (p.Asn741Lys)
c.3975C>G (p.Asn1325Lys)
2g.165097378G=CA1304438449SCN3Ac.4062C= (p.Asn1354=)
c.4113C= (p.Asn1371=)
c.*1954C= (n.*1954C=)
c.*847C= (n.*847C=)
c.2322C= (n.2322C=)
c.3966C= (p.Asn1322=)
n.237C=
c.2223C= (p.Asn741=)
c.3975C= (p.Asn1325=)
2g.165097378G>TCA349025562SCN3Ac.4062C>A (p.Asn1354Lys)
c.4113C>A (p.Asn1371Lys)
c.*1954C>A (n.*1954C>A)
c.*847C>A (n.*847C>A)
c.2322C>A (n.2322C>A)
c.3966C>A (p.Asn1322Lys)
n.237C>A
c.2223C>A (p.Asn741Lys)
c.3975C>A (p.Asn1325Lys)
2g.165097379T>ACA349025563SCN3Ac.4061A>T (p.Asn1354Ile)
c.4112A>T (p.Asn1371Ile)
c.*1953A>T (n.*1953A>T)
c.*846A>T (n.*846A>T)
c.2321A>T (n.2321A>T)
c.3965A>T (p.Asn1322Ile)
n.236A>T
c.2222A>T (p.Asn741Ile)
c.3974A>T (p.Asn1325Ile)
dbSNP
2g.165097379T>CCA349025565SCN3Ac.4061A>G (p.Asn1354Ser)
c.4112A>G (p.Asn1371Ser)
c.*1953A>G (n.*1953A>G)
c.*846A>G (n.*846A>G)
c.2321A>G (n.2321A>G)
c.3965A>G (p.Asn1322Ser)
n.236A>G
c.2222A>G (p.Asn741Ser)
c.3974A>G (p.Asn1325Ser)
COSMIC COSMIC
2g.165097379T>GCA349025564SCN3Ac.4061A>C (p.Asn1354Thr)
c.4112A>C (p.Asn1371Thr)
c.*1953A>C (n.*1953A>C)
c.*846A>C (n.*846A>C)
c.2321A>C (n.2321A>C)
c.3965A>C (p.Asn1322Thr)
n.236A>C
c.2222A>C (p.Asn741Thr)
c.3974A>C (p.Asn1325Thr)
2g.165097380T>ACA349025566SCN3Ac.4060A>T (p.Asn1354Tyr)
c.4111A>T (p.Asn1371Tyr)
c.*1952A>T (n.*1952A>T)
c.*845A>T (n.*845A>T)
c.2320A>T (n.2320A>T)
c.3964A>T (p.Asn1322Tyr)
n.235A>T
c.2221A>T (p.Asn741Tyr)
c.3973A>T (p.Asn1325Tyr)
2g.165097380T>CCA349025567SCN3Ac.4060A>G (p.Asn1354Asp)
c.4111A>G (p.Asn1371Asp)
c.*1952A>G (n.*1952A>G)
c.*845A>G (n.*845A>G)
c.2320A>G (n.2320A>G)
c.3964A>G (p.Asn1322Asp)
n.235A>G
c.2221A>G (p.Asn741Asp)
c.3973A>G (p.Asn1325Asp)
2g.165097380T>GCA349025568SCN3Ac.4060A>C (p.Asn1354His)
c.4111A>C (p.Asn1371His)
c.*1952A>C (n.*1952A>C)
c.*845A>C (n.*845A>C)
c.2320A>C (n.2320A>C)
c.3964A>C (p.Asn1322His)
n.235A>C
c.2221A>C (p.Asn741His)
c.3973A>C (p.Asn1325His)
2g.165097381A>CCA429880852SCN3Ac.4059T>G (p.Gly1353=)
c.4110T>G (p.Gly1370=)
c.*1951T>G (n.*1951T>G)
c.*844T>G (n.*844T>G)
c.2319T>G (n.2319T>G)
c.3963T>G (p.Gly1321=)
n.234T>G
c.2220T>G (p.Gly740=)
c.3972T>G (p.Gly1324=)
2g.165097381A>GCA429880853SCN3Ac.4059T>C (p.Gly1353=)
c.4110T>C (p.Gly1370=)
c.*1951T>C (n.*1951T>C)
c.*844T>C (n.*844T>C)
c.2319T>C (n.2319T>C)
c.3963T>C (p.Gly1321=)
n.234T>C
c.2220T>C (p.Gly740=)
c.3972T>C (p.Gly1324=)
2g.165097381A>TCA429880854SCN3Ac.4059T>A (p.Gly1353=)
c.4110T>A (p.Gly1370=)
c.*1951T>A (n.*1951T>A)
c.*844T>A (n.*844T>A)
c.2319T>A (n.2319T>A)
c.3963T>A (p.Gly1321=)
n.234T>A
c.2220T>A (p.Gly740=)
c.3972T>A (p.Gly1324=)
2g.165097382C>ACA349025569SCN3Ac.4058G>T (p.Gly1353Val)
c.4109G>T (p.Gly1370Val)
c.*1950G>T (n.*1950G>T)
c.*843G>T (n.*843G>T)
c.2318G>T (n.2318G>T)
c.3962G>T (p.Gly1321Val)
n.233G>T
c.2219G>T (p.Gly740Val)
c.3971G>T (p.Gly1324Val)
gnomAD v4
2g.165097382C>GCA349025570SCN3Ac.4058G>C (p.Gly1353Ala)
c.4109G>C (p.Gly1370Ala)
c.*1950G>C (n.*1950G>C)
c.*843G>C (n.*843G>C)
c.2318G>C (n.2318G>C)
c.3962G>C (p.Gly1321Ala)
n.233G>C
c.2219G>C (p.Gly740Ala)
c.3971G>C (p.Gly1324Ala)
2g.165097382C>TCA349025571SCN3Ac.4058G>A (p.Gly1353Asp)
c.4109G>A (p.Gly1370Asp)
c.*1950G>A (n.*1950G>A)
c.*843G>A (n.*843G>A)
c.2318G>A (n.2318G>A)
c.3962G>A (p.Gly1321Asp)
n.233G>A
c.2219G>A (p.Gly740Asp)
c.3971G>A (p.Gly1324Asp)
2g.165097384delCA645533338SCN3Ac.4058del (p.Gly1353ValfsTer12)
c.4109del (p.Gly1370ValfsTer12)
c.*1950del (n.*1950del)
c.*843del (n.*843del)
c.2318del (n.2318del)
c.3962del (p.Gly1321ValfsTer12)
n.233del
c.2219del (p.Gly740ValfsTer12)
c.3971del (p.Gly1324ValfsTer12)
COSMIC COSMIC
2g.165097383C>ACA349025572SCN3Ac.4057G>T (p.Gly1353Cys)
c.4108G>T (p.Gly1370Cys)
c.*1949G>T (n.*1949G>T)
c.*842G>T (n.*842G>T)
c.2317G>T (n.2317G>T)
c.3961G>T (p.Gly1321Cys)
n.232G>T
c.2218G>T (p.Gly740Cys)
c.3970G>T (p.Gly1324Cys)
2g.165097383C=CA1304438450SCN3Ac.4057G= (p.Gly1353=)
c.4108G= (p.Gly1370=)
c.*1949G= (n.*1949G=)
c.*842G= (n.*842G=)
c.2317G= (n.2317G=)
c.3961G= (p.Gly1321=)
n.232G=
c.2218G= (p.Gly740=)
c.3970G= (p.Gly1324=)
2g.165097383C>GCA59712760SCN3Ac.4057G>C (p.Gly1353Arg)
c.4108G>C (p.Gly1370Arg)
c.*1949G>C (n.*1949G>C)
c.*842G>C (n.*842G>C)
c.2317G>C (n.2317G>C)
c.3961G>C (p.Gly1321Arg)
n.232G>C
c.2218G>C (p.Gly740Arg)
c.3970G>C (p.Gly1324Arg)
dbSNP
2g.165097383C>TCA349025573SCN3Ac.4057G>A (p.Gly1353Ser)
c.4108G>A (p.Gly1370Ser)
c.*1949G>A (n.*1949G>A)
c.*842G>A (n.*842G>A)
c.2317G>A (n.2317G>A)
c.3961G>A (p.Gly1321Ser)
n.232G>A
c.2218G>A (p.Gly740Ser)
c.3970G>A (p.Gly1324Ser)
2g.165097384C>ACA429880856SCN3Ac.4056G>T (p.Thr1352=)
c.4107G>T (p.Thr1369=)
c.*1948G>T (n.*1948G>T)
c.*841G>T (n.*841G>T)
c.2316G>T (n.2316G>T)
c.3960G>T (p.Thr1320=)
n.231G>T
c.2217G>T (p.Thr739=)
c.3969G>T (p.Thr1323=)
2g.165097384C=CA1304438451SCN3Ac.4056G= (p.Thr1352=)
c.4107G= (p.Thr1369=)
c.*1948G= (n.*1948G=)
c.*841G= (n.*841G=)
c.2316G= (n.2316G=)
c.3960G= (p.Thr1320=)
n.231G=
c.2217G= (p.Thr739=)
c.3969G= (p.Thr1323=)
2g.165097384C>GCA1938647SCN3Ac.4056G>C (p.Thr1352=)
c.4107G>C (p.Thr1369=)
c.*1948G>C (n.*1948G>C)
c.*841G>C (n.*841G>C)
c.2316G>C (n.2316G>C)
c.3960G>C (p.Thr1320=)
n.231G>C
c.2217G>C (p.Thr739=)
c.3969G>C (p.Thr1323=)
dbSNP ExAC gnomAD v2
2g.165097384C>TCA429880855SCN3Ac.4056G>A (p.Thr1352=)
c.4107G>A (p.Thr1369=)
c.*1948G>A (n.*1948G>A)
c.*841G>A (n.*841G>A)
c.2316G>A (n.2316G>A)
c.3960G>A (p.Thr1320=)
n.231G>A
c.2217G>A (p.Thr739=)
c.3969G>A (p.Thr1323=)
dbSNP gnomAD v4
2g.165097385G>ACA1938648SCN3Ac.4055C>T (p.Thr1352Met)
c.4106C>T (p.Thr1369Met)
c.*1947C>T (n.*1947C>T)
c.*840C>T (n.*840C>T)
c.2315C>T (n.2315C>T)
c.3959C>T (p.Thr1320Met)
n.230C>T
c.2216C>T (p.Thr739Met)
c.3968C>T (p.Thr1323Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165097385G>CCA349025575SCN3Ac.4055C>G (p.Thr1352Arg)
c.4106C>G (p.Thr1369Arg)
c.*1947C>G (n.*1947C>G)
c.*840C>G (n.*840C>G)
c.2315C>G (n.2315C>G)
c.3959C>G (p.Thr1320Arg)
n.230C>G
c.2216C>G (p.Thr739Arg)
c.3968C>G (p.Thr1323Arg)
2g.165097385G=CA1304438452SCN3Ac.4055C= (p.Thr1352=)
c.4106C= (p.Thr1369=)
c.*1947C= (n.*1947C=)
c.*840C= (n.*840C=)
c.2315C= (n.2315C=)
c.3959C= (p.Thr1320=)
n.230C=
c.2216C= (p.Thr739=)
c.3968C= (p.Thr1323=)
2g.165097385G>TCA349025574SCN3Ac.4055C>A (p.Thr1352Lys)
c.4106C>A (p.Thr1369Lys)
c.*1947C>A (n.*1947C>A)
c.*840C>A (n.*840C>A)
c.2315C>A (n.2315C>A)
c.3959C>A (p.Thr1320Lys)
n.230C>A
c.2216C>A (p.Thr739Lys)
c.3968C>A (p.Thr1323Lys)
COSMIC COSMIC
2g.165097386T>ACA349025578SCN3Ac.4054A>T (p.Thr1352Ser)
c.4105A>T (p.Thr1369Ser)
c.*1946A>T (n.*1946A>T)
c.*839A>T (n.*839A>T)
c.2314A>T (n.2314A>T)
c.3958A>T (p.Thr1320Ser)
n.229A>T
c.2215A>T (p.Thr739Ser)
c.3967A>T (p.Thr1323Ser)
2g.165097386T>CCA349025576SCN3Ac.4054A>G (p.Thr1352Ala)
c.4105A>G (p.Thr1369Ala)
c.*1946A>G (n.*1946A>G)
c.*839A>G (n.*839A>G)
c.2314A>G (n.2314A>G)
c.3958A>G (p.Thr1320Ala)
n.229A>G
c.2215A>G (p.Thr739Ala)
c.3967A>G (p.Thr1323Ala)
2g.165097386T>GCA349025577SCN3Ac.4054A>C (p.Thr1352Pro)
c.4105A>C (p.Thr1369Pro)
c.*1946A>C (n.*1946A>C)
c.*839A>C (n.*839A>C)
c.2314A>C (n.2314A>C)
c.3958A>C (p.Thr1320Pro)
n.229A>C
c.2215A>C (p.Thr739Pro)
c.3967A>C (p.Thr1323Pro)
2g.165097387T>ACA429880857SCN3Ac.4053A>T (p.Thr1351=)
c.4104A>T (p.Thr1368=)
c.*1945A>T (n.*1945A>T)
c.*838A>T (n.*838A>T)
c.2313A>T (n.2313A>T)
c.3957A>T (p.Thr1319=)
n.228A>T
c.2214A>T (p.Thr738=)
c.3966A>T (p.Thr1322=)
2g.165097387T>CCA429880858SCN3Ac.4053A>G (p.Thr1351=)
c.4104A>G (p.Thr1368=)
c.*1945A>G (n.*1945A>G)
c.*838A>G (n.*838A>G)
c.2313A>G (n.2313A>G)
c.3957A>G (p.Thr1319=)
n.228A>G
c.2214A>G (p.Thr738=)
c.3966A>G (p.Thr1322=)
2g.165097387T>GCA429880859SCN3Ac.4053A>C (p.Thr1351=)
c.4104A>C (p.Thr1368=)
c.*1945A>C (n.*1945A>C)
c.*838A>C (n.*838A>C)
c.2313A>C (n.2313A>C)
c.3957A>C (p.Thr1319=)
n.228A>C
c.2214A>C (p.Thr738=)
c.3966A>C (p.Thr1322=)
2g.165097388G>ACA349025579SCN3Ac.4052C>T (p.Thr1351Ile)
c.4103C>T (p.Thr1368Ile)
c.*1944C>T (n.*1944C>T)
c.*837C>T (n.*837C>T)
c.2312C>T (n.2312C>T)
c.3956C>T (p.Thr1319Ile)
n.227C>T
c.2213C>T (p.Thr738Ile)
c.3965C>T (p.Thr1322Ile)
2g.165097388G>CCA349025580SCN3Ac.4052C>G (p.Thr1351Arg)
c.4103C>G (p.Thr1368Arg)
c.*1944C>G (n.*1944C>G)
c.*837C>G (n.*837C>G)
c.2312C>G (n.2312C>G)
c.3956C>G (p.Thr1319Arg)
n.227C>G
c.2213C>G (p.Thr738Arg)
c.3965C>G (p.Thr1322Arg)
2g.165097388G>TCA349025581SCN3Ac.4052C>A (p.Thr1351Lys)
c.4103C>A (p.Thr1368Lys)
c.*1944C>A (n.*1944C>A)
c.*837C>A (n.*837C>A)
c.2312C>A (n.2312C>A)
c.3956C>A (p.Thr1319Lys)
n.227C>A
c.2213C>A (p.Thr738Lys)
c.3965C>A (p.Thr1322Lys)
2g.165097389T>ACA349025584SCN3Ac.4051A>T (p.Thr1351Ser)
c.4102A>T (p.Thr1368Ser)
c.*1943A>T (n.*1943A>T)
c.*836A>T (n.*836A>T)
c.2311A>T (n.2311A>T)
c.3955A>T (p.Thr1319Ser)
n.226A>T
c.2212A>T (p.Thr738Ser)
c.3964A>T (p.Thr1322Ser)
2g.165097389T>CCA349025583SCN3Ac.4051A>G (p.Thr1351Ala)
c.4102A>G (p.Thr1368Ala)
c.*1943A>G (n.*1943A>G)
c.*836A>G (n.*836A>G)
c.2311A>G (n.2311A>G)
c.3955A>G (p.Thr1319Ala)
n.226A>G
c.2212A>G (p.Thr738Ala)
c.3964A>G (p.Thr1322Ala)
2g.165097389T>GCA349025582SCN3Ac.4051A>C (p.Thr1351Pro)
c.4102A>C (p.Thr1368Pro)
c.*1943A>C (n.*1943A>C)
c.*836A>C (n.*836A>C)
c.2311A>C (n.2311A>C)
c.3955A>C (p.Thr1319Pro)
n.226A>C
c.2212A>C (p.Thr738Pro)
c.3964A>C (p.Thr1322Pro)
2g.165097390C>ACA349025585SCN3Ac.4050G>T (p.Met1350Ile)
c.4101G>T (p.Met1367Ile)
c.*1942G>T (n.*1942G>T)
c.*835G>T (n.*835G>T)
c.2310G>T (n.2310G>T)
c.3954G>T (p.Met1318Ile)
n.225G>T
c.2211G>T (p.Met737Ile)
c.3963G>T (p.Met1321Ile)
2g.165097390C=CA1304438453SCN3Ac.4050G= (p.Met1350=)
c.4101G= (p.Met1367=)
c.*1942G= (n.*1942G=)
c.*835G= (n.*835G=)
c.2310G= (n.2310G=)
c.3954G= (p.Met1318=)
n.225G=
c.2211G= (p.Met737=)
c.3963G= (p.Met1321=)
2g.165097390C>GCA349025586SCN3Ac.4050G>C (p.Met1350Ile)
c.4101G>C (p.Met1367Ile)
c.*1942G>C (n.*1942G>C)
c.*835G>C (n.*835G>C)
c.2310G>C (n.2310G>C)
c.3954G>C (p.Met1318Ile)
n.225G>C
c.2211G>C (p.Met737Ile)
c.3963G>C (p.Met1321Ile)
2g.165097390C>TCA1938649SCN3Ac.4050G>A (p.Met1350Ile)
c.4101G>A (p.Met1367Ile)
c.*1942G>A (n.*1942G>A)
c.*835G>A (n.*835G>A)
c.2310G>A (n.2310G>A)
c.3954G>A (p.Met1318Ile)
n.225G>A
c.2211G>A (p.Met737Ile)
c.3963G>A (p.Met1321Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.165097391A=CA1304438454SCN3Ac.4049T= (p.Met1350=)
c.4100T= (p.Met1367=)
c.*1941T= (n.*1941T=)
c.*834T= (n.*834T=)
c.2309T= (n.2309T=)
c.3953T= (p.Met1318=)
n.224T=
c.2210T= (p.Met737=)
c.3962T= (p.Met1321=)
2g.165097391A>CCA349025587SCN3Ac.4049T>G (p.Met1350Arg)
c.4100T>G (p.Met1367Arg)
c.*1941T>G (n.*1941T>G)
c.*834T>G (n.*834T>G)
c.2309T>G (n.2309T>G)
c.3953T>G (p.Met1318Arg)
n.224T>G
c.2210T>G (p.Met737Arg)
c.3962T>G (p.Met1321Arg)
gnomAD v4
2g.165097391A>GCA59712771SCN3Ac.4049T>C (p.Met1350Thr)
c.4100T>C (p.Met1367Thr)
c.*1941T>C (n.*1941T>C)
c.*834T>C (n.*834T>C)
c.2309T>C (n.2309T>C)
c.3953T>C (p.Met1318Thr)
n.224T>C
c.2210T>C (p.Met737Thr)
c.3962T>C (p.Met1321Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.165097391A>TCA349025588SCN3Ac.4049T>A (p.Met1350Lys)
c.4100T>A (p.Met1367Lys)
c.*1941T>A (n.*1941T>A)
c.*834T>A (n.*834T>A)
c.2309T>A (n.2309T>A)
c.3953T>A (p.Met1318Lys)
n.224T>A
c.2210T>A (p.Met737Lys)
c.3962T>A (p.Met1321Lys)
2g.165097392T>ACA349025589SCN3Ac.4048A>T (p.Met1350Leu)
c.4099A>T (p.Met1367Leu)
c.*1940A>T (n.*1940A>T)
c.*833A>T (n.*833A>T)
c.2308A>T (n.2308A>T)
c.3952A>T (p.Met1318Leu)
n.223A>T
c.2209A>T (p.Met737Leu)
c.3961A>T (p.Met1321Leu)
2g.165097392T>CCA349025591SCN3Ac.4048A>G (p.Met1350Val)
c.4099A>G (p.Met1367Val)
c.*1940A>G (n.*1940A>G)
c.*833A>G (n.*833A>G)
c.2308A>G (n.2308A>G)
c.3952A>G (p.Met1318Val)
n.223A>G
c.2209A>G (p.Met737Val)
c.3961A>G (p.Met1321Val)
2g.165097392T>GCA349025590SCN3Ac.4048A>C (p.Met1350Leu)
c.4099A>C (p.Met1367Leu)
c.*1940A>C (n.*1940A>C)
c.*833A>C (n.*833A>C)
c.2308A>C (n.2308A>C)
c.3952A>C (p.Met1318Leu)
n.223A>C
c.2209A>C (p.Met737Leu)
c.3961A>C (p.Met1321Leu)
2g.165097393G>ACA429880860SCN3Ac.4047C>T (p.Asn1349=)
c.4098C>T (p.Asn1366=)
c.*1939C>T (n.*1939C>T)
c.*832C>T (n.*832C>T)
c.2307C>T (n.2307C>T)
c.3951C>T (p.Asn1317=)
n.222C>T
c.2208C>T (p.Asn736=)
c.3960C>T (p.Asn1320=)
ClinVar dbSNP gnomAD v4
2g.165097393G>CCA349025592SCN3Ac.4047C>G (p.Asn1349Lys)
c.4098C>G (p.Asn1366Lys)
c.*1939C>G (n.*1939C>G)
c.*832C>G (n.*832C>G)
c.2307C>G (n.2307C>G)
c.3951C>G (p.Asn1317Lys)
n.222C>G
c.2208C>G (p.Asn736Lys)
c.3960C>G (p.Asn1320Lys)
2g.165097393G>TCA349025593SCN3Ac.4047C>A (p.Asn1349Lys)
c.4098C>A (p.Asn1366Lys)
c.*1939C>A (n.*1939C>A)
c.*832C>A (n.*832C>A)
c.2307C>A (n.2307C>A)
c.3951C>A (p.Asn1317Lys)
n.222C>A
c.2208C>A (p.Asn736Lys)
c.3960C>A (p.Asn1320Lys)
COSMIC COSMIC
2g.165097394T>ACA349025594SCN3Ac.4046A>T (p.Asn1349Ile)
c.4097A>T (p.Asn1366Ile)
c.*1938A>T (n.*1938A>T)
c.*831A>T (n.*831A>T)
c.2306A>T (n.2306A>T)
c.3950A>T (p.Asn1317Ile)
n.221A>T
c.2207A>T (p.Asn736Ile)
c.3959A>T (p.Asn1320Ile)
2g.165097394T>CCA349025595SCN3Ac.4046A>G (p.Asn1349Ser)
c.4097A>G (p.Asn1366Ser)
c.*1938A>G (n.*1938A>G)
c.*831A>G (n.*831A>G)
c.2306A>G (n.2306A>G)
c.3950A>G (p.Asn1317Ser)
n.221A>G
c.2207A>G (p.Asn736Ser)
c.3959A>G (p.Asn1320Ser)
2g.165097394T>GCA349025596SCN3Ac.4046A>C (p.Asn1349Thr)
c.4097A>C (p.Asn1366Thr)
c.*1938A>C (n.*1938A>C)
c.*831A>C (n.*831A>C)
c.2306A>C (n.2306A>C)
c.3950A>C (p.Asn1317Thr)
n.221A>C
c.2207A>C (p.Asn736Thr)
c.3959A>C (p.Asn1320Thr)
2g.165097395T>ACA349025597SCN3Ac.4045A>T (p.Asn1349Tyr)
c.4096A>T (p.Asn1366Tyr)
c.*1937A>T (n.*1937A>T)
c.*830A>T (n.*830A>T)
c.2305A>T (n.2305A>T)
c.3949A>T (p.Asn1317Tyr)
n.220A>T
c.2206A>T (p.Asn736Tyr)
c.3958A>T (p.Asn1320Tyr)
2g.165097395T>CCA349025598SCN3Ac.4045A>G (p.Asn1349Asp)
c.4096A>G (p.Asn1366Asp)
c.*1937A>G (n.*1937A>G)
c.*830A>G (n.*830A>G)
c.2305A>G (n.2305A>G)
c.3949A>G (p.Asn1317Asp)
n.220A>G
c.2206A>G (p.Asn736Asp)
c.3958A>G (p.Asn1320Asp)
dbSNP gnomAD v4
2g.165097395T>GCA349025599SCN3Ac.4045A>C (p.Asn1349His)
c.4096A>C (p.Asn1366His)
c.*1937A>C (n.*1937A>C)
c.*830A>C (n.*830A>C)
c.2305A>C (n.2305A>C)
c.3949A>C (p.Asn1317His)
n.220A>C
c.2206A>C (p.Asn736His)
c.3958A>C (p.Asn1320His)
2g.165097395T=CA1304438455SCN3Ac.4045A= (p.Asn1349=)
c.4096A= (p.Asn1366=)
c.*1937A= (n.*1937A=)
c.*830A= (n.*830A=)
c.2305A= (n.2305A=)
c.3949A= (p.Asn1317=)
n.220A=
c.2206A= (p.Asn736=)
c.3958A= (p.Asn1320=)
2g.165097396A>CCA429880861SCN3Ac.4044T>G (p.Val1348=)
c.4095T>G (p.Val1365=)
c.*1936T>G (n.*1936T>G)
c.*829T>G (n.*829T>G)
c.2304T>G (n.2304T>G)
c.3948T>G (p.Val1316=)
n.219T>G
c.2205T>G (p.Val735=)
c.3957T>G (p.Val1319=)
2g.165097396A>GCA429880862SCN3Ac.4044T>C (p.Val1348=)
c.4095T>C (p.Val1365=)
c.*1936T>C (n.*1936T>C)
c.*829T>C (n.*829T>C)
c.2304T>C (n.2304T>C)
c.3948T>C (p.Val1316=)
n.219T>C
c.2205T>C (p.Val735=)
c.3957T>C (p.Val1319=)
2g.165097396A>TCA429880863SCN3Ac.4044T>A (p.Val1348=)
c.4095T>A (p.Val1365=)
c.*1936T>A (n.*1936T>A)
c.*829T>A (n.*829T>A)
c.2304T>A (n.2304T>A)
c.3948T>A (p.Val1316=)
n.219T>A
c.2205T>A (p.Val735=)
c.3957T>A (p.Val1319=)
2g.165097397A>CCA349025600SCN3Ac.4043T>G (p.Val1348Gly)
c.4094T>G (p.Val1365Gly)
c.*1935T>G (n.*1935T>G)
c.*828T>G (n.*828T>G)
c.2303T>G (n.2303T>G)
c.3947T>G (p.Val1316Gly)
n.218T>G
c.2204T>G (p.Val735Gly)
c.3956T>G (p.Val1319Gly)
2g.165097397A>GCA349025601SCN3Ac.4043T>C (p.Val1348Ala)
c.4094T>C (p.Val1365Ala)
c.*1935T>C (n.*1935T>C)
c.*828T>C (n.*828T>C)
c.2303T>C (n.2303T>C)
c.3947T>C (p.Val1316Ala)
n.218T>C
c.2204T>C (p.Val735Ala)
c.3956T>C (p.Val1319Ala)
2g.165097397A>TCA349025602SCN3Ac.4043T>A (p.Val1348Asp)
c.4094T>A (p.Val1365Asp)
c.*1935T>A (n.*1935T>A)
c.*828T>A (n.*828T>A)
c.2303T>A (n.2303T>A)
c.3947T>A (p.Val1316Asp)
n.218T>A
c.2204T>A (p.Val735Asp)
c.3956T>A (p.Val1319Asp)
2g.165097398C>ACA349025605SCN3Ac.4042G>T (p.Val1348Phe)
c.4093G>T (p.Val1365Phe)
c.*1934G>T (n.*1934G>T)
c.*827G>T (n.*827G>T)
c.2302G>T (n.2302G>T)
c.3946G>T (p.Val1316Phe)
n.217G>T
c.2203G>T (p.Val735Phe)
c.3955G>T (p.Val1319Phe)
2g.165097398C>GCA349025604SCN3Ac.4042G>C (p.Val1348Leu)
c.4093G>C (p.Val1365Leu)
c.*1934G>C (n.*1934G>C)
c.*827G>C (n.*827G>C)
c.2302G>C (n.2302G>C)
c.3946G>C (p.Val1316Leu)
n.217G>C
c.2203G>C (p.Val735Leu)
c.3955G>C (p.Val1319Leu)
2g.165097398C>TCA349025603SCN3Ac.4042G>A (p.Val1348Ile)
c.4093G>A (p.Val1365Ile)
c.*1934G>A (n.*1934G>A)
c.*827G>A (n.*827G>A)
c.2302G>A (n.2302G>A)
c.3946G>A (p.Val1316Ile)
n.217G>A
c.2203G>A (p.Val735Ile)
c.3955G>A (p.Val1319Ile)
2g.165097399A=CA1304438456SCN3Ac.4041T= (p.Cys1347=)
c.4092T= (p.Cys1364=)
c.*1933T= (n.*1933T=)
c.*826T= (n.*826T=)
c.2301T= (n.2301T=)
c.3945T= (p.Cys1315=)
n.216T=
c.2202T= (p.Cys734=)
c.3954T= (p.Cys1318=)
2g.165097399A>CCA349025606SCN3Ac.4041T>G (p.Cys1347Trp)
c.4092T>G (p.Cys1364Trp)
c.*1933T>G (n.*1933T>G)
c.*826T>G (n.*826T>G)
c.2301T>G (n.2301T>G)
c.3945T>G (p.Cys1315Trp)
n.216T>G
c.2202T>G (p.Cys734Trp)
c.3954T>G (p.Cys1318Trp)
2g.165097399A>GCA429880864SCN3Ac.4041T>C (p.Cys1347=)
c.4092T>C (p.Cys1364=)
c.*1933T>C (n.*1933T>C)
c.*826T>C (n.*826T>C)
c.2301T>C (n.2301T>C)
c.3945T>C (p.Cys1315=)
n.216T>C
c.2202T>C (p.Cys734=)
c.3954T>C (p.Cys1318=)
2g.165097399A>TCA349025607SCN3Ac.4041T>A (p.Cys1347Ter)
c.4092T>A (p.Cys1364Ter)
c.*1933T>A (n.*1933T>A)
c.*826T>A (n.*826T>A)
c.2301T>A (n.2301T>A)
c.3945T>A (p.Cys1315Ter)
n.216T>A
c.2202T>A (p.Cys734Ter)
c.3954T>A (p.Cys1318Ter)
dbSNP
2g.165097400C>ACA349025608SCN3Ac.4040G>T (p.Cys1347Phe)
c.4091G>T (p.Cys1364Phe)
c.*1932G>T (n.*1932G>T)
c.*825G>T (n.*825G>T)
c.2300G>T (n.2300G>T)
c.3944G>T (p.Cys1315Phe)
n.215G>T
c.2201G>T (p.Cys734Phe)
c.3953G>T (p.Cys1318Phe)
2g.165097400C>GCA349025609SCN3Ac.4040G>C (p.Cys1347Ser)
c.4091G>C (p.Cys1364Ser)
c.*1932G>C (n.*1932G>C)
c.*825G>C (n.*825G>C)
c.2300G>C (n.2300G>C)
c.3944G>C (p.Cys1315Ser)
n.215G>C
c.2201G>C (p.Cys734Ser)
c.3953G>C (p.Cys1318Ser)
2g.165097400C>TCA349025610SCN3Ac.4040G>A (p.Cys1347Tyr)
c.4091G>A (p.Cys1364Tyr)
c.*1932G>A (n.*1932G>A)
c.*825G>A (n.*825G>A)
c.2300G>A (n.2300G>A)
c.3944G>A (p.Cys1315Tyr)
n.215G>A
c.2201G>A (p.Cys734Tyr)
c.3953G>A (p.Cys1318Tyr)
2g.165097401A>CCA349025611SCN3Ac.4039T>G (p.Cys1347Gly)
c.4090T>G (p.Cys1364Gly)
c.*1931T>G (n.*1931T>G)
c.*824T>G (n.*824T>G)
c.2299T>G (n.2299T>G)
c.3943T>G (p.Cys1315Gly)
n.214T>G
c.2200T>G (p.Cys734Gly)
c.3952T>G (p.Cys1318Gly)
2g.165097401A>GCA349025612SCN3Ac.4039T>C (p.Cys1347Arg)
c.4090T>C (p.Cys1364Arg)
c.*1931T>C (n.*1931T>C)
c.*824T>C (n.*824T>C)
c.2299T>C (n.2299T>C)
c.3943T>C (p.Cys1315Arg)
n.214T>C
c.2200T>C (p.Cys734Arg)
c.3952T>C (p.Cys1318Arg)
2g.165097401A>TCA349025613SCN3Ac.4039T>A (p.Cys1347Ser)
c.4090T>A (p.Cys1364Ser)
c.*1931T>A (n.*1931T>A)
c.*824T>A (n.*824T>A)
c.2299T>A (n.2299T>A)
c.3943T>A (p.Cys1315Ser)
n.214T>A
c.2200T>A (p.Cys734Ser)
c.3952T>A (p.Cys1318Ser)
2g.165097402G>ACA429880865SCN3Ac.4038C>T (p.His1346=)
c.4089C>T (p.His1363=)
c.*1930C>T (n.*1930C>T)
c.*823C>T (n.*823C>T)
c.2298C>T (n.2298C>T)
c.3942C>T (p.His1314=)
n.213C>T
c.2199C>T (p.His733=)
c.3951C>T (p.His1317=)
COSMIC COSMIC
2g.165097402G>CCA349025614SCN3Ac.4038C>G (p.His1346Gln)
c.4089C>G (p.His1363Gln)
c.*1930C>G (n.*1930C>G)
c.*823C>G (n.*823C>G)
c.2298C>G (n.2298C>G)
c.3942C>G (p.His1314Gln)
n.213C>G
c.2199C>G (p.His733Gln)
c.3951C>G (p.His1317Gln)
2g.165097402G>TCA349025615SCN3Ac.4038C>A (p.His1346Gln)
c.4089C>A (p.His1363Gln)
c.*1930C>A (n.*1930C>A)
c.*823C>A (n.*823C>A)
c.2298C>A (n.2298C>A)
c.3942C>A (p.His1314Gln)
n.213C>A
c.2199C>A (p.His733Gln)
c.3951C>A (p.His1317Gln)
2g.165097403T>ACA349025616SCN3Ac.4037A>T (p.His1346Leu)
c.4088A>T (p.His1363Leu)
c.*1929A>T (n.*1929A>T)
c.*822A>T (n.*822A>T)
c.2297A>T (n.2297A>T)
c.3941A>T (p.His1314Leu)
n.212A>T
c.2198A>T (p.His733Leu)
c.3950A>T (p.His1317Leu)
2g.165097403T>CCA349025617SCN3Ac.4037A>G (p.His1346Arg)
c.4088A>G (p.His1363Arg)
c.*1929A>G (n.*1929A>G)
c.*822A>G (n.*822A>G)
c.2297A>G (n.2297A>G)
c.3941A>G (p.His1314Arg)
n.212A>G
c.2198A>G (p.His733Arg)
c.3950A>G (p.His1317Arg)
2g.165097403T>GCA349025618SCN3Ac.4037A>C (p.His1346Pro)
c.4088A>C (p.His1363Pro)
c.*1929A>C (n.*1929A>C)
c.*822A>C (n.*822A>C)
c.2297A>C (n.2297A>C)
c.3941A>C (p.His1314Pro)
n.212A>C
c.2198A>C (p.His733Pro)
c.3950A>C (p.His1317Pro)
2g.165097404G>ACA349025621SCN3Ac.4036C>T (p.His1346Tyr)
c.4087C>T (p.His1363Tyr)
c.*1928C>T (n.*1928C>T)
c.*821C>T (n.*821C>T)
c.2296C>T (n.2296C>T)
c.3940C>T (p.His1314Tyr)
n.211C>T
c.2197C>T (p.His733Tyr)
c.3949C>T (p.His1317Tyr)
2g.165097404G>CCA349025619SCN3Ac.4036C>G (p.His1346Asp)
c.4087C>G (p.His1363Asp)
c.*1928C>G (n.*1928C>G)
c.*821C>G (n.*821C>G)
c.2296C>G (n.2296C>G)
c.3940C>G (p.His1314Asp)
n.211C>G
c.2197C>G (p.His733Asp)
c.3949C>G (p.His1317Asp)
2g.165097404G>TCA349025620SCN3Ac.4036C>A (p.His1346Asn)
c.4087C>A (p.His1363Asn)
c.*1928C>A (n.*1928C>A)
c.*821C>A (n.*821C>A)
c.2296C>A (n.2296C>A)
c.3940C>A (p.His1314Asn)
n.211C>A
c.2197C>A (p.His733Asn)
c.3949C>A (p.His1317Asn)
2g.165097405G>ACA429880866SCN3Ac.4035C>T (p.Tyr1345=)
c.4086C>T (p.Tyr1362=)
c.*1927C>T (n.*1927C>T)
c.*820C>T (n.*820C>T)
c.2295C>T (n.2295C>T)
c.3939C>T (p.Tyr1313=)
n.210C>T
c.2196C>T (p.Tyr732=)
c.3948C>T (p.Tyr1316=)
gnomAD v4
2g.165097405G>CCA349025622SCN3Ac.4035C>G (p.Tyr1345Ter)
c.4086C>G (p.Tyr1362Ter)
c.*1927C>G (n.*1927C>G)
c.*820C>G (n.*820C>G)
c.2295C>G (n.2295C>G)
c.3939C>G (p.Tyr1313Ter)
n.210C>G
c.2196C>G (p.Tyr732Ter)
c.3948C>G (p.Tyr1316Ter)
2g.165097405G>TCA349025623SCN3Ac.4035C>A (p.Tyr1345Ter)
c.4086C>A (p.Tyr1362Ter)
c.*1927C>A (n.*1927C>A)
c.*820C>A (n.*820C>A)
c.2295C>A (n.2295C>A)
c.3939C>A (p.Tyr1313Ter)
n.210C>A
c.2196C>A (p.Tyr732Ter)
c.3948C>A (p.Tyr1316Ter)
2g.165097406T>ACA349025624SCN3Ac.4034A>T (p.Tyr1345Phe)
c.4085A>T (p.Tyr1362Phe)
c.*1926A>T (n.*1926A>T)
c.*819A>T (n.*819A>T)
c.2294A>T (n.2294A>T)
c.3938A>T (p.Tyr1313Phe)
n.209A>T
c.2195A>T (p.Tyr732Phe)
c.3947A>T (p.Tyr1316Phe)
2g.165097406T>CCA349025625SCN3Ac.4034A>G (p.Tyr1345Cys)
c.4085A>G (p.Tyr1362Cys)
c.*1926A>G (n.*1926A>G)
c.*819A>G (n.*819A>G)
c.2294A>G (n.2294A>G)
c.3938A>G (p.Tyr1313Cys)
n.209A>G
c.2195A>G (p.Tyr732Cys)
c.3947A>G (p.Tyr1316Cys)
ClinVar dbSNP gnomAD v4
2g.165097406T>GCA349025626SCN3Ac.4034A>C (p.Tyr1345Ser)
c.4085A>C (p.Tyr1362Ser)
c.*1926A>C (n.*1926A>C)
c.*819A>C (n.*819A>C)
c.2294A>C (n.2294A>C)
c.3938A>C (p.Tyr1313Ser)
n.209A>C
c.2195A>C (p.Tyr732Ser)
c.3947A>C (p.Tyr1316Ser)
2g.165097406T=CA1304438457SCN3Ac.4034A= (p.Tyr1345=)
c.4085A= (p.Tyr1362=)
c.*1926A= (n.*1926A=)
c.*819A= (n.*819A=)
c.2294A= (n.2294A=)
c.3938A= (p.Tyr1313=)
n.209A=
c.2195A= (p.Tyr732=)
c.3947A= (p.Tyr1316=)
2g.165097407A>CCA349025627SCN3Ac.4033T>G (p.Tyr1345Asp)
c.4084T>G (p.Tyr1362Asp)
c.*1925T>G (n.*1925T>G)
c.*818T>G (n.*818T>G)
c.2293T>G (n.2293T>G)
c.3937T>G (p.Tyr1313Asp)
n.208T>G
c.2194T>G (p.Tyr732Asp)
c.3946T>G (p.Tyr1316Asp)
2g.165097407A>GCA349025628SCN3Ac.4033T>C (p.Tyr1345His)
c.4084T>C (p.Tyr1362His)
c.*1925T>C (n.*1925T>C)
c.*818T>C (n.*818T>C)
c.2293T>C (n.2293T>C)
c.3937T>C (p.Tyr1313His)
n.208T>C
c.2194T>C (p.Tyr732His)
c.3946T>C (p.Tyr1316His)
2g.165097407A>TCA349025629SCN3Ac.4033T>A (p.Tyr1345Asn)
c.4084T>A (p.Tyr1362Asn)
c.*1925T>A (n.*1925T>A)
c.*818T>A (n.*818T>A)
c.2293T>A (n.2293T>A)
c.3937T>A (p.Tyr1313Asn)
n.208T>A
c.2194T>A (p.Tyr732Asn)
c.3946T>A (p.Tyr1316Asn)
2g.165097408G>ACA429880867SCN3Ac.4032C>T (p.Phe1344=)
c.4083C>T (p.Phe1361=)
c.*1924C>T (n.*1924C>T)
c.*817C>T (n.*817C>T)
c.2292C>T (n.2292C>T)
c.3936C>T (p.Phe1312=)
n.207C>T
c.2193C>T (p.Phe731=)
c.3945C>T (p.Phe1315=)
gnomAD v4
2g.165097408G>CCA349025630SCN3Ac.4032C>G (p.Phe1344Leu)
c.4083C>G (p.Phe1361Leu)
c.*1924C>G (n.*1924C>G)
c.*817C>G (n.*817C>G)
c.2292C>G (n.2292C>G)
c.3936C>G (p.Phe1312Leu)
n.207C>G
c.2193C>G (p.Phe731Leu)
c.3945C>G (p.Phe1315Leu)
2g.165097408G>TCA349025631SCN3Ac.4032C>A (p.Phe1344Leu)
c.4083C>A (p.Phe1361Leu)
c.*1924C>A (n.*1924C>A)
c.*817C>A (n.*817C>A)
c.2292C>A (n.2292C>A)
c.3936C>A (p.Phe1312Leu)
n.207C>A
c.2193C>A (p.Phe731Leu)
c.3945C>A (p.Phe1315Leu)
2g.165097409A>CCA349025632SCN3Ac.4031T>G (p.Phe1344Cys)
c.4082T>G (p.Phe1361Cys)
c.*1923T>G (n.*1923T>G)
c.*816T>G (n.*816T>G)
c.2291T>G (n.2291T>G)
c.3935T>G (p.Phe1312Cys)
n.206T>G
c.2192T>G (p.Phe731Cys)
c.3944T>G (p.Phe1315Cys)
2g.165097409A>GCA349025633SCN3Ac.4031T>C (p.Phe1344Ser)
c.4082T>C (p.Phe1361Ser)
c.*1923T>C (n.*1923T>C)
c.*816T>C (n.*816T>C)
c.2291T>C (n.2291T>C)
c.3935T>C (p.Phe1312Ser)
n.206T>C
c.2192T>C (p.Phe731Ser)
c.3944T>C (p.Phe1315Ser)
2g.165097409A>TCA349025634SCN3Ac.4031T>A (p.Phe1344Tyr)
c.4082T>A (p.Phe1361Tyr)
c.*1923T>A (n.*1923T>A)
c.*816T>A (n.*816T>A)
c.2291T>A (n.2291T>A)
c.3935T>A (p.Phe1312Tyr)
n.206T>A
c.2192T>A (p.Phe731Tyr)
c.3944T>A (p.Phe1315Tyr)
2g.165097410A>CCA349025636SCN3Ac.4030T>G (p.Phe1344Val)
c.4081T>G (p.Phe1361Val)
c.*1922T>G (n.*1922T>G)
c.*815T>G (n.*815T>G)
c.2290T>G (n.2290T>G)
c.3934T>G (p.Phe1312Val)
n.205T>G
c.2191T>G (p.Phe731Val)
c.3943T>G (p.Phe1315Val)
2g.165097410A>GCA349025637SCN3Ac.4030T>C (p.Phe1344Leu)
c.4081T>C (p.Phe1361Leu)
c.*1922T>C (n.*1922T>C)
c.*815T>C (n.*815T>C)
c.2290T>C (n.2290T>C)
c.3934T>C (p.Phe1312Leu)
n.205T>C
c.2191T>C (p.Phe731Leu)
c.3943T>C (p.Phe1315Leu)
2g.165097410A>TCA349025635SCN3Ac.4030T>A (p.Phe1344Ile)
c.4081T>A (p.Phe1361Ile)
c.*1922T>A (n.*1922T>A)
c.*815T>A (n.*815T>A)
c.2290T>A (n.2290T>A)
c.3934T>A (p.Phe1312Ile)
n.205T>A
c.2191T>A (p.Phe731Ile)
c.3943T>A (p.Phe1315Ile)
2g.165097411C>ACA349025638SCN3Ac.4029G>T (p.Lys1343Asn)
c.4080G>T (p.Lys1360Asn)
c.*1921G>T (n.*1921G>T)
c.*814G>T (n.*814G>T)
c.2289G>T (n.2289G>T)
c.3933G>T (p.Lys1311Asn)
n.204G>T
c.2190G>T (p.Lys730Asn)
c.3942G>T (p.Lys1314Asn)
2g.165097411C>GCA349025639SCN3Ac.4029G>C (p.Lys1343Asn)
c.4080G>C (p.Lys1360Asn)
c.*1921G>C (n.*1921G>C)
c.*814G>C (n.*814G>C)
c.2289G>C (n.2289G>C)
c.3933G>C (p.Lys1311Asn)
n.204G>C
c.2190G>C (p.Lys730Asn)
c.3942G>C (p.Lys1314Asn)
2g.165097411C>TCA429880868SCN3Ac.4029G>A (p.Lys1343=)
c.4080G>A (p.Lys1360=)
c.*1921G>A (n.*1921G>A)
c.*814G>A (n.*814G>A)
c.2289G>A (n.2289G>A)
c.3933G>A (p.Lys1311=)
n.204G>A
c.2190G>A (p.Lys730=)
c.3942G>A (p.Lys1314=)
gnomAD v4
2g.165097412T>ACA349025640SCN3Ac.4028A>T (p.Lys1343Met)
c.4079A>T (p.Lys1360Met)
c.*1920A>T (n.*1920A>T)
c.*813A>T (n.*813A>T)
c.2288A>T (n.2288A>T)
c.3932A>T (p.Lys1311Met)
n.203A>T
c.2189A>T (p.Lys730Met)
c.3941A>T (p.Lys1314Met)
dbSNP
2g.165097412T>CCA349025642SCN3Ac.4028A>G (p.Lys1343Arg)
c.4079A>G (p.Lys1360Arg)
c.*1920A>G (n.*1920A>G)
c.*813A>G (n.*813A>G)
c.2288A>G (n.2288A>G)
c.3932A>G (p.Lys1311Arg)
n.203A>G
c.2189A>G (p.Lys730Arg)
c.3941A>G (p.Lys1314Arg)
2g.165097412T>GCA349025641SCN3Ac.4028A>C (p.Lys1343Thr)
c.4079A>C (p.Lys1360Thr)
c.*1920A>C (n.*1920A>C)
c.*813A>C (n.*813A>C)
c.2288A>C (n.2288A>C)
c.3932A>C (p.Lys1311Thr)
n.203A>C
c.2189A>C (p.Lys730Thr)
c.3941A>C (p.Lys1314Thr)
2g.165097412T=CA1304438458SCN3Ac.4028A= (p.Lys1343=)
c.4079A= (p.Lys1360=)
c.*1920A= (n.*1920A=)
c.*813A= (n.*813A=)
c.2288A= (n.2288A=)
c.3932A= (p.Lys1311=)
n.203A=
c.2189A= (p.Lys730=)
c.3941A= (p.Lys1314=)
2g.165097413T>ACA349025643SCN3Ac.4027A>T (p.Lys1343Ter)
c.4078A>T (p.Lys1360Ter)
c.*1919A>T (n.*1919A>T)
c.*812A>T (n.*812A>T)
c.2287A>T (n.2287A>T)
c.3931A>T (p.Lys1311Ter)
n.202A>T
c.2188A>T (p.Lys730Ter)
c.3940A>T (p.Lys1314Ter)
dbSNP
2g.165097413T>CCA349025644SCN3Ac.4027A>G (p.Lys1343Glu)
c.4078A>G (p.Lys1360Glu)
c.*1919A>G (n.*1919A>G)
c.*812A>G (n.*812A>G)
c.2287A>G (n.2287A>G)
c.3931A>G (p.Lys1311Glu)
n.202A>G
c.2188A>G (p.Lys730Glu)
c.3940A>G (p.Lys1314Glu)
2g.165097413T>GCA349025645SCN3Ac.4027A>C (p.Lys1343Gln)
c.4078A>C (p.Lys1360Gln)
c.*1919A>C (n.*1919A>C)
c.*812A>C (n.*812A>C)
c.2287A>C (n.2287A>C)
c.3931A>C (p.Lys1311Gln)
n.202A>C
c.2188A>C (p.Lys730Gln)
c.3940A>C (p.Lys1314Gln)
2g.165097413T=CA1304438459SCN3Ac.4027A= (p.Lys1343=)
c.4078A= (p.Lys1360=)
c.*1919A= (n.*1919A=)
c.*812A= (n.*812A=)
c.2287A= (n.2287A=)
c.3931A= (p.Lys1311=)
n.202A=
c.2188A= (p.Lys730=)
c.3940A= (p.Lys1314=)
2g.165097414G>ACA429880869SCN3Ac.4026C>T (p.Gly1342=)
c.4077C>T (p.Gly1359=)
c.*1918C>T (n.*1918C>T)
c.*811C>T (n.*811C>T)
c.2286C>T (n.2286C>T)
c.3930C>T (p.Gly1310=)
n.201C>T
c.2187C>T (p.Gly729=)
c.3939C>T (p.Gly1313=)
2g.165097414G>CCA429880870SCN3Ac.4026C>G (p.Gly1342=)
c.4077C>G (p.Gly1359=)
c.*1918C>G (n.*1918C>G)
c.*811C>G (n.*811C>G)
c.2286C>G (n.2286C>G)
c.3930C>G (p.Gly1310=)
n.201C>G
c.2187C>G (p.Gly729=)
c.3939C>G (p.Gly1313=)
2g.165097414G=CA1304438460SCN3Ac.4026C= (p.Gly1342=)
c.4077C= (p.Gly1359=)
c.*1918C= (n.*1918C=)
c.*811C= (n.*811C=)
c.2286C= (n.2286C=)
c.3930C= (p.Gly1310=)
n.201C=
c.2187C= (p.Gly729=)
c.3939C= (p.Gly1313=)
2g.165097414G>TCA1938650SCN3Ac.4026C>A (p.Gly1342=)
c.4077C>A (p.Gly1359=)
c.*1918C>A (n.*1918C>A)
c.*811C>A (n.*811C>A)
c.2286C>A (n.2286C>A)
c.3930C>A (p.Gly1310=)
n.201C>A
c.2187C>A (p.Gly729=)
c.3939C>A (p.Gly1313=)
dbSNP ExAC
2g.165097415C>ACA349025646SCN3Ac.4025G>T (p.Gly1342Val)
c.4076G>T (p.Gly1359Val)
c.*1917G>T (n.*1917G>T)
c.*810G>T (n.*810G>T)
c.2285G>T (n.2285G>T)
c.3929G>T (p.Gly1310Val)
n.200G>T
c.2186G>T (p.Gly729Val)
c.3938G>T (p.Gly1313Val)
2g.165097415C>GCA349025647SCN3Ac.4025G>C (p.Gly1342Ala)
c.4076G>C (p.Gly1359Ala)
c.*1917G>C (n.*1917G>C)
c.*810G>C (n.*810G>C)
c.2285G>C (n.2285G>C)
c.3929G>C (p.Gly1310Ala)
n.200G>C
c.2186G>C (p.Gly729Ala)
c.3938G>C (p.Gly1313Ala)
2g.165097415C>TCA349025648SCN3Ac.4025G>A (p.Gly1342Asp)
c.4076G>A (p.Gly1359Asp)
c.*1917G>A (n.*1917G>A)
c.*810G>A (n.*810G>A)
c.2285G>A (n.2285G>A)
c.3929G>A (p.Gly1310Asp)
n.200G>A
c.2186G>A (p.Gly729Asp)
c.3938G>A (p.Gly1313Asp)
2g.165097416C>ACA349025649SCN3Ac.4024G>T (p.Gly1342Cys)
c.4075G>T (p.Gly1359Cys)
c.*1916G>T (n.*1916G>T)
c.*809G>T (n.*809G>T)
c.2284G>T (n.2284G>T)
c.3928G>T (p.Gly1310Cys)
n.199G>T
c.2185G>T (p.Gly729Cys)
c.3937G>T (p.Gly1313Cys)
2g.165097416C>GCA349025650SCN3Ac.4024G>C (p.Gly1342Arg)
c.4075G>C (p.Gly1359Arg)
c.*1916G>C (n.*1916G>C)
c.*809G>C (n.*809G>C)
c.2284G>C (n.2284G>C)
c.3928G>C (p.Gly1310Arg)
n.199G>C
c.2185G>C (p.Gly729Arg)
c.3937G>C (p.Gly1313Arg)
2g.165097416C>TCA349025651SCN3Ac.4024G>A (p.Gly1342Ser)
c.4075G>A (p.Gly1359Ser)
c.*1916G>A (n.*1916G>A)
c.*809G>A (n.*809G>A)
c.2284G>A (n.2284G>A)
c.3928G>A (p.Gly1310Ser)
n.199G>A
c.2185G>A (p.Gly729Ser)
c.3937G>A (p.Gly1313Ser)
2g.165097417A=CA1304438461SCN3Ac.4023T= (p.Ala1341=)
c.4074T= (p.Ala1358=)
c.*1915T= (n.*1915T=)
c.*808T= (n.*808T=)
c.2283T= (n.2283T=)
c.3927T= (p.Ala1309=)
n.198T=
c.2184T= (p.Ala728=)
c.3936T= (p.Ala1312=)
2g.165097417A>CCA429880871SCN3Ac.4023T>G (p.Ala1341=)
c.4074T>G (p.Ala1358=)
c.*1915T>G (n.*1915T>G)
c.*808T>G (n.*808T>G)
c.2283T>G (n.2283T>G)
c.3927T>G (p.Ala1309=)
n.198T>G
c.2184T>G (p.Ala728=)
c.3936T>G (p.Ala1312=)
2g.165097417A>GCA59712794SCN3Ac.4023T>C (p.Ala1341=)
c.4074T>C (p.Ala1358=)
c.*1915T>C (n.*1915T>C)
c.*808T>C (n.*808T>C)
c.2283T>C (n.2283T>C)
c.3927T>C (p.Ala1309=)
n.198T>C
c.2184T>C (p.Ala728=)
c.3936T>C (p.Ala1312=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.165097417A>TCA429880872SCN3Ac.4023T>A (p.Ala1341=)
c.4074T>A (p.Ala1358=)
c.*1915T>A (n.*1915T>A)
c.*808T>A (n.*808T>A)
c.2283T>A (n.2283T>A)
c.3927T>A (p.Ala1309=)
n.198T>A
c.2184T>A (p.Ala728=)
c.3936T>A (p.Ala1312=)
2g.165097418G>ACA349025652SCN3Ac.4022C>T (p.Ala1341Val)
c.4073C>T (p.Ala1358Val)
c.*1914C>T (n.*1914C>T)
c.*807C>T (n.*807C>T)
c.2282C>T (n.2282C>T)
c.3926C>T (p.Ala1309Val)
n.197C>T
c.2183C>T (p.Ala728Val)
c.3935C>T (p.Ala1312Val)
2g.165097418G>CCA349025653SCN3Ac.4022C>G (p.Ala1341Gly)
c.4073C>G (p.Ala1358Gly)
c.*1914C>G (n.*1914C>G)
c.*807C>G (n.*807C>G)
c.2282C>G (n.2282C>G)
c.3926C>G (p.Ala1309Gly)
n.197C>G
c.2183C>G (p.Ala728Gly)
c.3935C>G (p.Ala1312Gly)
2g.165097418G=CA1304438462SCN3Ac.4022C= (p.Ala1341=)
c.4073C= (p.Ala1358=)
c.*1914C= (n.*1914C=)
c.*807C= (n.*807C=)
c.2282C= (n.2282C=)
c.3926C= (p.Ala1309=)
n.197C=
c.2183C= (p.Ala728=)
c.3935C= (p.Ala1312=)
2g.165097418G>TCA349025654SCN3Ac.4022C>A (p.Ala1341Asp)
c.4073C>A (p.Ala1358Asp)
c.*1914C>A (n.*1914C>A)
c.*807C>A (n.*807C>A)
c.2282C>A (n.2282C>A)
c.3926C>A (p.Ala1309Asp)
n.197C>A
c.2183C>A (p.Ala728Asp)
c.3935C>A (p.Ala1312Asp)
dbSNP
2g.165097419C>ACA349025657SCN3Ac.4021G>T (p.Ala1341Ser)
c.4072G>T (p.Ala1358Ser)
c.*1913G>T (n.*1913G>T)
c.*806G>T (n.*806G>T)
c.2281G>T (n.2281G>T)
c.3925G>T (p.Ala1309Ser)
n.196G>T
c.2182G>T (p.Ala728Ser)
c.3934G>T (p.Ala1312Ser)
2g.165097419C>GCA349025655SCN3Ac.4021G>C (p.Ala1341Pro)
c.4072G>C (p.Ala1358Pro)
c.*1913G>C (n.*1913G>C)
c.*806G>C (n.*806G>C)
c.2281G>C (n.2281G>C)
c.3925G>C (p.Ala1309Pro)
n.196G>C
c.2182G>C (p.Ala728Pro)
c.3934G>C (p.Ala1312Pro)
2g.165097419C>TCA349025656SCN3Ac.4021G>A (p.Ala1341Thr)
c.4072G>A (p.Ala1358Thr)
c.*1913G>A (n.*1913G>A)
c.*806G>A (n.*806G>A)
c.2281G>A (n.2281G>A)
c.3925G>A (p.Ala1309Thr)
n.196G>A
c.2182G>A (p.Ala728Thr)
c.3934G>A (p.Ala1312Thr)
2g.165097420A>CCA349025658SCN3Ac.4020T>G (p.Phe1340Leu)
c.4071T>G (p.Phe1357Leu)
c.*1912T>G (n.*1912T>G)
c.*805T>G (n.*805T>G)
c.2280T>G (n.2280T>G)
c.3924T>G (p.Phe1308Leu)
n.195T>G
c.2181T>G (p.Phe727Leu)
c.3933T>G (p.Phe1311Leu)
2g.165097420A>GCA429880873SCN3Ac.4020T>C (p.Phe1340=)
c.4071T>C (p.Phe1357=)
c.*1912T>C (n.*1912T>C)
c.*805T>C (n.*805T>C)
c.2280T>C (n.2280T>C)
c.3924T>C (p.Phe1308=)
n.195T>C
c.2181T>C (p.Phe727=)
c.3933T>C (p.Phe1311=)
2g.165097420A>TCA349025659SCN3Ac.4020T>A (p.Phe1340Leu)
c.4071T>A (p.Phe1357Leu)
c.*1912T>A (n.*1912T>A)
c.*805T>A (n.*805T>A)
c.2280T>A (n.2280T>A)
c.3924T>A (p.Phe1308Leu)
n.195T>A
c.2181T>A (p.Phe727Leu)
c.3933T>A (p.Phe1311Leu)
2g.165097421A>CCA349025660SCN3Ac.4019T>G (p.Phe1340Cys)
c.4070T>G (p.Phe1357Cys)
c.*1911T>G (n.*1911T>G)
c.*804T>G (n.*804T>G)
c.2279T>G (n.2279T>G)
c.3923T>G (p.Phe1308Cys)
n.194T>G
c.2180T>G (p.Phe727Cys)
c.3932T>G (p.Phe1311Cys)
2g.165097421A>GCA349025661SCN3Ac.4019T>C (p.Phe1340Ser)
c.4070T>C (p.Phe1357Ser)
c.*1911T>C (n.*1911T>C)
c.*804T>C (n.*804T>C)
c.2279T>C (n.2279T>C)
c.3923T>C (p.Phe1308Ser)
n.194T>C
c.2180T>C (p.Phe727Ser)
c.3932T>C (p.Phe1311Ser)
2g.165097421A>TCA349025662SCN3Ac.4019T>A (p.Phe1340Tyr)
c.4070T>A (p.Phe1357Tyr)
c.*1911T>A (n.*1911T>A)
c.*804T>A (n.*804T>A)
c.2279T>A (n.2279T>A)
c.3923T>A (p.Phe1308Tyr)
n.194T>A
c.2180T>A (p.Phe727Tyr)
c.3932T>A (p.Phe1311Tyr)
2g.165097422A>CCA349025663SCN3Ac.4018T>G (p.Phe1340Val)
c.4069T>G (p.Phe1357Val)
c.*1910T>G (n.*1910T>G)
c.*803T>G (n.*803T>G)
c.2278T>G (n.2278T>G)
c.3922T>G (p.Phe1308Val)
n.193T>G
c.2179T>G (p.Phe727Val)
c.3931T>G (p.Phe1311Val)
2g.165097422A>GCA349025664SCN3Ac.4018T>C (p.Phe1340Leu)
c.4069T>C (p.Phe1357Leu)
c.*1910T>C (n.*1910T>C)
c.*803T>C (n.*803T>C)
c.2278T>C (n.2278T>C)
c.3922T>C (p.Phe1308Leu)
n.193T>C
c.2179T>C (p.Phe727Leu)
c.3931T>C (p.Phe1311Leu)
2g.165097422A>TCA349025665SCN3Ac.4018T>A (p.Phe1340Ile)
c.4069T>A (p.Phe1357Ile)
c.*1910T>A (n.*1910T>A)
c.*803T>A (n.*803T>A)
c.2278T>A (n.2278T>A)
c.3922T>A (p.Phe1308Ile)
n.193T>A
c.2179T>A (p.Phe727Ile)
c.3931T>A (p.Phe1311Ile)
2g.165097423C>ACA1938651SCN3Ac.4017G>T (p.Leu1339Phe)
c.4068G>T (p.Leu1356Phe)
c.*1909G>T (n.*1909G>T)
c.*802G>T (n.*802G>T)
c.2277G>T (n.2277G>T)
c.3921G>T (p.Leu1307Phe)
n.192G>T
c.2178G>T (p.Leu726Phe)
c.3930G>T (p.Leu1310Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.165097423C=CA1304438463SCN3Ac.4017G= (p.Leu1339=)
c.4068G= (p.Leu1356=)
c.*1909G= (n.*1909G=)
c.*802G= (n.*802G=)
c.2277G= (n.2277G=)
c.3921G= (p.Leu1307=)
n.192G=
c.2178G= (p.Leu726=)
c.3930G= (p.Leu1310=)
2g.165097423C>GCA349025666SCN3Ac.4017G>C (p.Leu1339Phe)
c.4068G>C (p.Leu1356Phe)
c.*1909G>C (n.*1909G>C)
c.*802G>C (n.*802G>C)
c.2277G>C (n.2277G>C)
c.3921G>C (p.Leu1307Phe)
n.192G>C
c.2178G>C (p.Leu726Phe)
c.3930G>C (p.Leu1310Phe)
dbSNP
2g.165097423C>TCA16610146SCN3Ac.4017G>A (p.Leu1339=)
c.4068G>A (p.Leu1356=)
c.*1909G>A (n.*1909G>A)
c.*802G>A (n.*802G>A)
c.2277G>A (n.2277G>A)
c.3921G>A (p.Leu1307=)
n.192G>A
c.2178G>A (p.Leu726=)
c.3930G>A (p.Leu1310=)
ClinVar dbSNP
2g.165097424A=CA1304438464SCN3Ac.4016T= (p.Leu1339=)
c.4067T= (p.Leu1356=)
c.*1908T= (n.*1908T=)
c.*801T= (n.*801T=)
c.2276T= (n.2276T=)
c.3920T= (p.Leu1307=)
n.191T=
c.2177T= (p.Leu726=)
c.3929T= (p.Leu1310=)
2g.165097424A>CCA349025667SCN3Ac.4016T>G (p.Leu1339Trp)
c.4067T>G (p.Leu1356Trp)
c.*1908T>G (n.*1908T>G)
c.*801T>G (n.*801T>G)
c.2276T>G (n.2276T>G)
c.3920T>G (p.Leu1307Trp)
n.191T>G
c.2177T>G (p.Leu726Trp)
c.3929T>G (p.Leu1310Trp)
2g.165097424A>GCA349025668SCN3Ac.4016T>C (p.Leu1339Ser)
c.4067T>C (p.Leu1356Ser)
c.*1908T>C (n.*1908T>C)
c.*801T>C (n.*801T>C)
c.2276T>C (n.2276T>C)
c.3920T>C (p.Leu1307Ser)
n.191T>C
c.2177T>C (p.Leu726Ser)
c.3929T>C (p.Leu1310Ser)
2g.165097424A>TCA349025669SCN3Ac.4016T>A (p.Leu1339Ter)
c.4067T>A (p.Leu1356Ter)
c.*1908T>A (n.*1908T>A)
c.*801T>A (n.*801T>A)
c.2276T>A (n.2276T>A)
c.3920T>A (p.Leu1307Ter)
n.191T>A
c.2177T>A (p.Leu726Ter)
c.3929T>A (p.Leu1310Ter)
dbSNP
2g.165097425A>CCA349025670SCN3Ac.4015T>G (p.Leu1339Val)
c.4066T>G (p.Leu1356Val)
c.*1907T>G (n.*1907T>G)
c.*800T>G (n.*800T>G)
c.2275T>G (n.2275T>G)
c.3919T>G (p.Leu1307Val)
n.190T>G
c.2176T>G (p.Leu726Val)
c.3928T>G (p.Leu1310Val)
2g.165097425A>GCA429880874SCN3Ac.4015T>C (p.Leu1339=)
c.4066T>C (p.Leu1356=)
c.*1907T>C (n.*1907T>C)
c.*800T>C (n.*800T>C)
c.2275T>C (n.2275T>C)
c.3919T>C (p.Leu1307=)
n.190T>C
c.2176T>C (p.Leu726=)
c.3928T>C (p.Leu1310=)
2g.165097425A>TCA349025671SCN3Ac.4015T>A (p.Leu1339Met)
c.4066T>A (p.Leu1356Met)
c.*1907T>A (n.*1907T>A)
c.*800T>A (n.*800T>A)
c.2275T>A (n.2275T>A)
c.3919T>A (p.Leu1307Met)
n.190T>A
c.2176T>A (p.Leu726Met)
c.3928T>A (p.Leu1310Met)
2g.165097426A>CCA349025672SCN3Ac.4014T>G (p.Asn1338Lys)
c.4065T>G (p.Asn1355Lys)
c.*1906T>G (n.*1906T>G)
c.*799T>G (n.*799T>G)
c.2274T>G (n.2274T>G)
c.3918T>G (p.Asn1306Lys)
n.189T>G
c.2175T>G (p.Asn725Lys)
c.3927T>G (p.Asn1309Lys)
2g.165097426A>GCA429880875SCN3Ac.4014T>C (p.Asn1338=)
c.4065T>C (p.Asn1355=)
c.*1906T>C (n.*1906T>C)
c.*799T>C (n.*799T>C)
c.2274T>C (n.2274T>C)
c.3918T>C (p.Asn1306=)
n.189T>C
c.2175T>C (p.Asn725=)
c.3927T>C (p.Asn1309=)
ClinVar dbSNP
2g.165097426A>TCA349025673SCN3Ac.4014T>A (p.Asn1338Lys)
c.4065T>A (p.Asn1355Lys)
c.*1906T>A (n.*1906T>A)
c.*799T>A (n.*799T>A)
c.2274T>A (n.2274T>A)
c.3918T>A (p.Asn1306Lys)
n.189T>A
c.2175T>A (p.Asn725Lys)
c.3927T>A (p.Asn1309Lys)
2g.165097427T>ACA349025674SCN3Ac.4013A>T (p.Asn1338Ile)
c.4064A>T (p.Asn1355Ile)
c.*1905A>T (n.*1905A>T)
c.*798A>T (n.*798A>T)
c.2273A>T (n.2273A>T)
c.3917A>T (p.Asn1306Ile)
n.188A>T
c.2174A>T (p.Asn725Ile)
c.3926A>T (p.Asn1309Ile)
2g.165097427T>CCA349025675SCN3Ac.4013A>G (p.Asn1338Ser)
c.4064A>G (p.Asn1355Ser)
c.*1905A>G (n.*1905A>G)
c.*798A>G (n.*798A>G)
c.2273A>G (n.2273A>G)
c.3917A>G (p.Asn1306Ser)
n.188A>G
c.2174A>G (p.Asn725Ser)
c.3926A>G (p.Asn1309Ser)
2g.165097427T>GCA349025676SCN3Ac.4013A>C (p.Asn1338Thr)
c.4064A>C (p.Asn1355Thr)
c.*1905A>C (n.*1905A>C)
c.*798A>C (n.*798A>C)
c.2273A>C (n.2273A>C)
c.3917A>C (p.Asn1306Thr)
n.188A>C
c.2174A>C (p.Asn725Thr)
c.3926A>C (p.Asn1309Thr)
2g.165097428T>ACA349025677SCN3Ac.4012A>T (p.Asn1338Tyr)
c.4063A>T (p.Asn1355Tyr)
c.*1904A>T (n.*1904A>T)
c.*797A>T (n.*797A>T)
c.2272A>T (n.2272A>T)
c.3916A>T (p.Asn1306Tyr)
n.187A>T
c.2173A>T (p.Asn725Tyr)
c.3925A>T (p.Asn1309Tyr)
2g.165097428T>CCA349025678SCN3Ac.4012A>G (p.Asn1338Asp)
c.4063A>G (p.Asn1355Asp)
c.*1904A>G (n.*1904A>G)
c.*797A>G (n.*797A>G)
c.2272A>G (n.2272A>G)
c.3916A>G (p.Asn1306Asp)
n.187A>G
c.2173A>G (p.Asn725Asp)
c.3925A>G (p.Asn1309Asp)
2g.165097428T>GCA349025679SCN3Ac.4012A>C (p.Asn1338His)
c.4063A>C (p.Asn1355His)
c.*1904A>C (n.*1904A>C)
c.*797A>C (n.*797A>C)
c.2272A>C (n.2272A>C)
c.3916A>C (p.Asn1306His)
n.187A>C
c.2173A>C (p.Asn725His)
c.3925A>C (p.Asn1309His)
2g.165097429C>ACA429880876SCN3Ac.4011G>T (p.Val1337=)
c.4062G>T (p.Val1354=)
c.*1903G>T (n.*1903G>T)
c.*796G>T (n.*796G>T)
c.2271G>T (n.2271G>T)
c.3915G>T (p.Val1305=)
n.186G>T
c.2172G>T (p.Val724=)
c.3924G>T (p.Val1308=)
2g.165097429C=CA1304438465SCN3Ac.4011G= (p.Val1337=)
c.4062G= (p.Val1354=)
c.*1903G= (n.*1903G=)
c.*796G= (n.*796G=)
c.2271G= (n.2271G=)
c.3915G= (p.Val1305=)
n.186G=
c.2172G= (p.Val724=)
c.3924G= (p.Val1308=)
2g.165097429C>GCA429880878SCN3Ac.4011G>C (p.Val1337=)
c.4062G>C (p.Val1354=)
c.*1903G>C (n.*1903G>C)
c.*796G>C (n.*796G>C)
c.2271G>C (n.2271G>C)
c.3915G>C (p.Val1305=)
n.186G>C
c.2172G>C (p.Val724=)
c.3924G>C (p.Val1308=)
2g.165097429C>TCA429880877SCN3Ac.4011G>A (p.Val1337=)
c.4062G>A (p.Val1354=)
c.*1903G>A (n.*1903G>A)
c.*796G>A (n.*796G>A)
c.2271G>A (n.2271G>A)
c.3915G>A (p.Val1305=)
n.186G>A
c.2172G>A (p.Val724=)
c.3924G>A (p.Val1308=)
dbSNP gnomAD v4
2g.165097430A>CCA349025680SCN3Ac.4010T>G (p.Val1337Gly)
c.4061T>G (p.Val1354Gly)
c.*1902T>G (n.*1902T>G)
c.*795T>G (n.*795T>G)
c.2270T>G (n.2270T>G)
c.3914T>G (p.Val1305Gly)
n.185T>G
c.2171T>G (p.Val724Gly)
c.3923T>G (p.Val1308Gly)
2g.165097430A>GCA349025681SCN3Ac.4010T>C (p.Val1337Ala)
c.4061T>C (p.Val1354Ala)
c.*1902T>C (n.*1902T>C)
c.*795T>C (n.*795T>C)
c.2270T>C (n.2270T>C)
c.3914T>C (p.Val1305Ala)
n.185T>C
c.2171T>C (p.Val724Ala)
c.3923T>C (p.Val1308Ala)
2g.165097430A>TCA349025682SCN3Ac.4010T>A (p.Val1337Glu)
c.4061T>A (p.Val1354Glu)
c.*1902T>A (n.*1902T>A)
c.*795T>A (n.*795T>A)
c.2270T>A (n.2270T>A)
c.3914T>A (p.Val1305Glu)
n.185T>A
c.2171T>A (p.Val724Glu)
c.3923T>A (p.Val1308Glu)
2g.165097431C>ACA349025683SCN3Ac.4009G>T (p.Val1337Leu)
c.4060G>T (p.Val1354Leu)
c.*1901G>T (n.*1901G>T)
c.*794G>T (n.*794G>T)
c.2269G>T (n.2269G>T)
c.3913G>T (p.Val1305Leu)
n.184G>T
c.2170G>T (p.Val724Leu)
c.3922G>T (p.Val1308Leu)
2g.165097431C>GCA349025684SCN3Ac.4009G>C (p.Val1337Leu)
c.4060G>C (p.Val1354Leu)
c.*1901G>C (n.*1901G>C)
c.*794G>C (n.*794G>C)
c.2269G>C (n.2269G>C)
c.3913G>C (p.Val1305Leu)
n.184G>C
c.2170G>C (p.Val724Leu)
c.3922G>C (p.Val1308Leu)
2g.165097431C>TCA349025685SCN3Ac.4009G>A (p.Val1337Met)
c.4060G>A (p.Val1354Met)
c.*1901G>A (n.*1901G>A)
c.*794G>A (n.*794G>A)
c.2269G>A (n.2269G>A)
c.3913G>A (p.Val1305Met)
n.184G>A
c.2170G>A (p.Val724Met)
c.3922G>A (p.Val1308Met)
gnomAD v4
2g.165097432A>CCA429880879SCN3Ac.4008T>G (p.Gly1336=)
c.4059T>G (p.Gly1353=)
c.*1900T>G (n.*1900T>G)
c.*793T>G (n.*793T>G)
c.2268T>G (n.2268T>G)
c.3912T>G (p.Gly1304=)
n.183T>G
c.2169T>G (p.Gly723=)
c.3921T>G (p.Gly1307=)
2g.165097432A>GCA429880880SCN3Ac.4008T>C (p.Gly1336=)
c.4059T>C (p.Gly1353=)
c.*1900T>C (n.*1900T>C)
c.*793T>C (n.*793T>C)
c.2268T>C (n.2268T>C)
c.3912T>C (p.Gly1304=)
n.183T>C
c.2169T>C (p.Gly723=)
c.3921T>C (p.Gly1307=)
2g.165097432A>TCA429880881SCN3Ac.4008T>A (p.Gly1336=)
c.4059T>A (p.Gly1353=)
c.*1900T>A (n.*1900T>A)
c.*793T>A (n.*793T>A)
c.2268T>A (n.2268T>A)
c.3912T>A (p.Gly1304=)
n.183T>A
c.2169T>A (p.Gly723=)
c.3921T>A (p.Gly1307=)
2g.165097433C>ACA349025688SCN3Ac.4007G>T (p.Gly1336Val)
c.4058G>T (p.Gly1353Val)
c.*1899G>T (n.*1899G>T)
c.*792G>T (n.*792G>T)
c.2267G>T (n.2267G>T)
c.3911G>T (p.Gly1304Val)
n.182G>T
c.2168G>T (p.Gly723Val)
c.3920G>T (p.Gly1307Val)
2g.165097433C=CA1304438466SCN3Ac.4007G= (p.Gly1336=)
c.4058G= (p.Gly1353=)
c.*1899G= (n.*1899G=)
c.*792G= (n.*792G=)
c.2267G= (n.2267G=)
c.3911G= (p.Gly1304=)
n.182G=
c.2168G= (p.Gly723=)
c.3920G= (p.Gly1307=)
2g.165097433C>GCA349025687SCN3Ac.4007G>C (p.Gly1336Ala)
c.4058G>C (p.Gly1353Ala)
c.*1899G>C (n.*1899G>C)
c.*792G>C (n.*792G>C)
c.2267G>C (n.2267G>C)
c.3911G>C (p.Gly1304Ala)
n.182G>C
c.2168G>C (p.Gly723Ala)
c.3920G>C (p.Gly1307Ala)
dbSNP gnomAD v2 gnomAD v4
2g.165097433C>TCA349025686SCN3Ac.4007G>A (p.Gly1336Asp)
c.4058G>A (p.Gly1353Asp)
c.*1899G>A (n.*1899G>A)
c.*792G>A (n.*792G>A)
c.2267G>A (n.2267G>A)
c.3911G>A (p.Gly1304Asp)
n.182G>A
c.2168G>A (p.Gly723Asp)
c.3920G>A (p.Gly1307Asp)
2g.165097434C>ACA349025689SCN3Ac.4006G>T (p.Gly1336Cys)
c.4057G>T (p.Gly1353Cys)
c.*1898G>T (n.*1898G>T)
c.*791G>T (n.*791G>T)
c.2266G>T (n.2266G>T)
c.3910G>T (p.Gly1304Cys)
n.181G>T
c.2167G>T (p.Gly723Cys)
c.3919G>T (p.Gly1307Cys)
2g.165097434C>GCA349025690SCN3Ac.4006G>C (p.Gly1336Arg)
c.4057G>C (p.Gly1353Arg)
c.*1898G>C (n.*1898G>C)
c.*791G>C (n.*791G>C)
c.2266G>C (n.2266G>C)
c.3910G>C (p.Gly1304Arg)
n.181G>C
c.2167G>C (p.Gly723Arg)
c.3919G>C (p.Gly1307Arg)
2g.165097434C>TCA349025691SCN3Ac.4006G>A (p.Gly1336Ser)
c.4057G>A (p.Gly1353Ser)
c.*1898G>A (n.*1898G>A)
c.*791G>A (n.*791G>A)
c.2266G>A (n.2266G>A)
c.3910G>A (p.Gly1304Ser)
n.181G>A
c.2167G>A (p.Gly723Ser)
c.3919G>A (p.Gly1307Ser)
2g.165097435C>ACA349025692SCN3Ac.4005G>T (p.Met1335Ile)
c.4056G>T (p.Met1352Ile)
c.*1897G>T (n.*1897G>T)
c.*790G>T (n.*790G>T)
c.2265G>T (n.2265G>T)
c.3909G>T (p.Met1303Ile)
n.180G>T
c.2166G>T (p.Met722Ile)
c.3918G>T (p.Met1306Ile)
2g.165097435C>GCA349025693SCN3Ac.4005G>C (p.Met1335Ile)
c.4056G>C (p.Met1352Ile)
c.*1897G>C (n.*1897G>C)
c.*790G>C (n.*790G>C)
c.2265G>C (n.2265G>C)
c.3909G>C (p.Met1303Ile)
n.180G>C
c.2166G>C (p.Met722Ile)
c.3918G>C (p.Met1306Ile)
2g.165097435C>TCA349025694SCN3Ac.4005G>A (p.Met1335Ile)
c.4056G>A (p.Met1352Ile)
c.*1897G>A (n.*1897G>A)
c.*790G>A (n.*790G>A)
c.2265G>A (n.2265G>A)
c.3909G>A (p.Met1303Ile)
n.180G>A
c.2166G>A (p.Met722Ile)
c.3918G>A (p.Met1306Ile)
2g.165097436A>CCA349025695SCN3Ac.4004T>G (p.Met1335Arg)
c.4055T>G (p.Met1352Arg)
c.*1896T>G (n.*1896T>G)
c.*789T>G (n.*789T>G)
c.2264T>G (n.2264T>G)
c.3908T>G (p.Met1303Arg)
n.179T>G
c.2165T>G (p.Met722Arg)
c.3917T>G (p.Met1306Arg)
2g.165097436A>GCA349025696SCN3Ac.4004T>C (p.Met1335Thr)
c.4055T>C (p.Met1352Thr)
c.*1896T>C (n.*1896T>C)
c.*789T>C (n.*789T>C)
c.2264T>C (n.2264T>C)
c.3908T>C (p.Met1303Thr)
n.179T>C
c.2165T>C (p.Met722Thr)
c.3917T>C (p.Met1306Thr)
2g.165097436A>TCA349025697SCN3Ac.4004T>A (p.Met1335Lys)
c.4055T>A (p.Met1352Lys)
c.*1896T>A (n.*1896T>A)
c.*789T>A (n.*789T>A)
c.2264T>A (n.2264T>A)
c.3908T>A (p.Met1303Lys)
n.179T>A
c.2165T>A (p.Met722Lys)
c.3917T>A (p.Met1306Lys)
2g.165097437T>ACA349025698SCN3Ac.4003A>T (p.Met1335Leu)
c.4054A>T (p.Met1352Leu)
c.*1895A>T (n.*1895A>T)
c.*788A>T (n.*788A>T)
c.2263A>T (n.2263A>T)
c.3907A>T (p.Met1303Leu)
n.178A>T
c.2164A>T (p.Met722Leu)
c.3916A>T (p.Met1306Leu)
2g.165097437T>CCA349025699SCN3Ac.4003A>G (p.Met1335Val)
c.4054A>G (p.Met1352Val)
c.*1895A>G (n.*1895A>G)
c.*788A>G (n.*788A>G)
c.2263A>G (n.2263A>G)
c.3907A>G (p.Met1303Val)
n.178A>G
c.2164A>G (p.Met722Val)
c.3916A>G (p.Met1306Val)
ClinVar gnomAD v4 COSMIC
2g.165097437T>GCA349025700SCN3Ac.4003A>C (p.Met1335Leu)
c.4054A>C (p.Met1352Leu)
c.*1895A>C (n.*1895A>C)
c.*788A>C (n.*788A>C)
c.2263A>C (n.2263A>C)
c.3907A>C (p.Met1303Leu)
n.178A>C
c.2164A>C (p.Met722Leu)
c.3916A>C (p.Met1306Leu)
2g.165097438G>ACA429880883SCN3Ac.4002C>T (p.Ile1334=)
c.4053C>T (p.Ile1351=)
c.*1894C>T (n.*1894C>T)
c.*787C>T (n.*787C>T)
c.2262C>T (n.2262C>T)
c.3906C>T (p.Ile1302=)
n.177C>T
c.2163C>T (p.Ile721=)
c.3915C>T (p.Ile1305=)
2g.165097438G>CCA349025701SCN3Ac.4002C>G (p.Ile1334Met)
c.4053C>G (p.Ile1351Met)
c.*1894C>G (n.*1894C>G)
c.*787C>G (n.*787C>G)
c.2262C>G (n.2262C>G)
c.3906C>G (p.Ile1302Met)
n.177C>G
c.2163C>G (p.Ile721Met)
c.3915C>G (p.Ile1305Met)
2g.165097438G>TCA429880882SCN3Ac.4002C>A (p.Ile1334=)
c.4053C>A (p.Ile1351=)
c.*1894C>A (n.*1894C>A)
c.*787C>A (n.*787C>A)
c.2262C>A (n.2262C>A)
c.3906C>A (p.Ile1302=)
n.177C>A
c.2163C>A (p.Ile721=)
c.3915C>A (p.Ile1305=)

Number of alleles fetched