Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.165097298A>CCA349025111SCN3Ac.4142T>G (p.Val1381Gly)
c.4193T>G (p.Val1398Gly)
c.*2034T>G (n.*2034T>G)
c.*927T>G (n.*927T>G)
c.2402T>G (n.2402T>G)
c.4046T>G (p.Val1349Gly)
n.317T>G
c.2303T>G (p.Val768Gly)
c.4055T>G (p.Val1352Gly)
2g.165097298A>GCA349025114SCN3Ac.4142T>C (p.Val1381Ala)
c.4193T>C (p.Val1398Ala)
c.*2034T>C (n.*2034T>C)
c.*927T>C (n.*927T>C)
c.2402T>C (n.2402T>C)
c.4046T>C (p.Val1349Ala)
n.317T>C
c.2303T>C (p.Val768Ala)
c.4055T>C (p.Val1352Ala)
2g.165097298A>TCA349025116SCN3Ac.4142T>A (p.Val1381Glu)
c.4193T>A (p.Val1398Glu)
c.*2034T>A (n.*2034T>A)
c.*927T>A (n.*927T>A)
c.2402T>A (n.2402T>A)
c.4046T>A (p.Val1349Glu)
n.317T>A
c.2303T>A (p.Val768Glu)
c.4055T>A (p.Val1352Glu)
2g.165097299C>ACA349025121SCN3Ac.4141G>T (p.Val1381Leu)
c.4192G>T (p.Val1398Leu)
c.*2033G>T (n.*2033G>T)
c.*926G>T (n.*926G>T)
c.2401G>T (n.2401G>T)
c.4045G>T (p.Val1349Leu)
n.316G>T
c.2302G>T (p.Val768Leu)
c.4054G>T (p.Val1352Leu)
2g.165097299C>GCA349025128SCN3Ac.4141G>C (p.Val1381Leu)
c.4192G>C (p.Val1398Leu)
c.*2033G>C (n.*2033G>C)
c.*926G>C (n.*926G>C)
c.2401G>C (n.2401G>C)
c.4045G>C (p.Val1349Leu)
n.316G>C
c.2302G>C (p.Val768Leu)
c.4054G>C (p.Val1352Leu)
 gnomAD v4
2g.165097299C>TCA349025133SCN3Ac.4141G>A (p.Val1381Ile)
c.4192G>A (p.Val1398Ile)
c.*2033G>A (n.*2033G>A)
c.*926G>A (n.*926G>A)
c.2401G>A (n.2401G>A)
c.4045G>A (p.Val1349Ile)
n.316G>A
c.2302G>A (p.Val768Ile)
c.4054G>A (p.Val1352Ile)
2g.165097300T>ACA349025138SCN3Ac.4140A>T (p.Lys1380Asn)
c.4191A>T (p.Lys1397Asn)
c.*2032A>T (n.*2032A>T)
c.*925A>T (n.*925A>T)
c.2400A>T (n.2400A>T)
c.4044A>T (p.Lys1348Asn)
n.315A>T
c.2301A>T (p.Lys767Asn)
c.4053A>T (p.Lys1351Asn)
 COSMIC COSMIC
2g.165097300T>CCA429880813SCN3Ac.4140A>G (p.Lys1380=)
c.4191A>G (p.Lys1397=)
c.*2032A>G (n.*2032A>G)
c.*925A>G (n.*925A>G)
c.2400A>G (n.2400A>G)
c.4044A>G (p.Lys1348=)
n.315A>G
c.2301A>G (p.Lys767=)
c.4053A>G (p.Lys1351=)
2g.165097300T>GCA59712660SCN3Ac.4140A>C (p.Lys1380Asn)
c.4191A>C (p.Lys1397Asn)
c.*2032A>C (n.*2032A>C)
c.*925A>C (n.*925A>C)
c.2400A>C (n.2400A>C)
c.4044A>C (p.Lys1348Asn)
n.315A>C
c.2301A>C (p.Lys767Asn)
c.4053A>C (p.Lys1351Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.165097300T=CA1304438420SCN3Ac.4140A= (p.Lys1380=)
c.4191A= (p.Lys1397=)
c.*2032A= (n.*2032A=)
c.*925A= (n.*925A=)
c.2400A= (n.2400A=)
c.4044A= (p.Lys1348=)
n.315A=
c.2301A= (p.Lys767=)
c.4053A= (p.Lys1351=)
2g.165097301T>ACA349025146SCN3Ac.4139A>T (p.Lys1380Ile)
c.4190A>T (p.Lys1397Ile)
c.*2031A>T (n.*2031A>T)
c.*924A>T (n.*924A>T)
c.2399A>T (n.2399A>T)
c.4043A>T (p.Lys1348Ile)
n.314A>T
c.2300A>T (p.Lys767Ile)
c.4052A>T (p.Lys1351Ile)
2g.165097301T>CCA349025150SCN3Ac.4139A>G (p.Lys1380Arg)
c.4190A>G (p.Lys1397Arg)
c.*2031A>G (n.*2031A>G)
c.*924A>G (n.*924A>G)
c.2399A>G (n.2399A>G)
c.4043A>G (p.Lys1348Arg)
n.314A>G
c.2300A>G (p.Lys767Arg)
c.4052A>G (p.Lys1351Arg)
2g.165097301T>GCA349025154SCN3Ac.4139A>C (p.Lys1380Thr)
c.4190A>C (p.Lys1397Thr)
c.*2031A>C (n.*2031A>C)
c.*924A>C (n.*924A>C)
c.2399A>C (n.2399A>C)
c.4043A>C (p.Lys1348Thr)
n.314A>C
c.2300A>C (p.Lys767Thr)
c.4052A>C (p.Lys1351Thr)
2g.165097302T>ACA349025164SCN3Ac.4138A>T (p.Lys1380Ter)
c.4189A>T (p.Lys1397Ter)
c.*2030A>T (n.*2030A>T)
c.*923A>T (n.*923A>T)
c.2398A>T (n.2398A>T)
c.4042A>T (p.Lys1348Ter)
n.313A>T
c.2299A>T (p.Lys767Ter)
c.4051A>T (p.Lys1351Ter)
 dbSNP
2g.165097302T>CCA349025168SCN3Ac.4138A>G (p.Lys1380Glu)
c.4189A>G (p.Lys1397Glu)
c.*2030A>G (n.*2030A>G)
c.*923A>G (n.*923A>G)
c.2398A>G (n.2398A>G)
c.4042A>G (p.Lys1348Glu)
n.313A>G
c.2299A>G (p.Lys767Glu)
c.4051A>G (p.Lys1351Glu)
2g.165097302T>GCA349025171SCN3Ac.4138A>C (p.Lys1380Gln)
c.4189A>C (p.Lys1397Gln)
c.*2030A>C (n.*2030A>C)
c.*923A>C (n.*923A>C)
c.2398A>C (n.2398A>C)
c.4042A>C (p.Lys1348Gln)
n.313A>C
c.2299A>C (p.Lys767Gln)
c.4051A>C (p.Lys1351Gln)
2g.165097302T=CA1304438421SCN3Ac.4138A= (p.Lys1380=)
c.4189A= (p.Lys1397=)
c.*2030A= (n.*2030A=)
c.*923A= (n.*923A=)
c.2398A= (n.2398A=)
c.4042A= (p.Lys1348=)
n.313A=
c.2299A= (p.Lys767=)
c.4051A= (p.Lys1351=)
2g.165097303C>ACA429880815SCN3Ac.4137G>T (p.Val1379=)
c.4188G>T (p.Val1396=)
c.*2029G>T (n.*2029G>T)
c.*922G>T (n.*922G>T)
c.2397G>T (n.2397G>T)
c.4041G>T (p.Val1347=)
n.312G>T
c.2298G>T (p.Val766=)
c.4050G>T (p.Val1350=)
2g.165097303C=CA1304438422SCN3Ac.4137G= (p.Val1379=)
c.4188G= (p.Val1396=)
c.*2029G= (n.*2029G=)
c.*922G= (n.*922G=)
c.2397G= (n.2397G=)
c.4041G= (p.Val1347=)
n.312G=
c.2298G= (p.Val766=)
c.4050G= (p.Val1350=)
2g.165097303C>GCA1938634SCN3Ac.4137G>C (p.Val1379=)
c.4188G>C (p.Val1396=)
c.*2029G>C (n.*2029G>C)
c.*922G>C (n.*922G>C)
c.2397G>C (n.2397G>C)
c.4041G>C (p.Val1347=)
n.312G>C
c.2298G>C (p.Val766=)
c.4050G>C (p.Val1350=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165097303C>TCA429880814SCN3Ac.4137G>A (p.Val1379=)
c.4188G>A (p.Val1396=)
c.*2029G>A (n.*2029G>A)
c.*922G>A (n.*922G>A)
c.2397G>A (n.2397G>A)
c.4041G>A (p.Val1347=)
n.312G>A
c.2298G>A (p.Val766=)
c.4050G>A (p.Val1350=)
 COSMIC COSMIC
2g.165097304A=CA1304438423SCN3Ac.4136T= (p.Val1379=)
c.4187T= (p.Val1396=)
c.*2028T= (n.*2028T=)
c.*921T= (n.*921T=)
c.2396T= (n.2396T=)
c.4040T= (p.Val1347=)
n.311T=
c.2297T= (p.Val766=)
c.4049T= (p.Val1350=)
2g.165097304A>CCA349025179SCN3Ac.4136T>G (p.Val1379Gly)
c.4187T>G (p.Val1396Gly)
c.*2028T>G (n.*2028T>G)
c.*921T>G (n.*921T>G)
c.2396T>G (n.2396T>G)
c.4040T>G (p.Val1347Gly)
n.311T>G
c.2297T>G (p.Val766Gly)
c.4049T>G (p.Val1350Gly)
 dbSNP gnomAD v4
2g.165097304A>GCA59712684SCN3Ac.4136T>C (p.Val1379Ala)
c.4187T>C (p.Val1396Ala)
c.*2028T>C (n.*2028T>C)
c.*921T>C (n.*921T>C)
c.2396T>C (n.2396T>C)
c.4040T>C (p.Val1347Ala)
n.311T>C
c.2297T>C (p.Val766Ala)
c.4049T>C (p.Val1350Ala)
 dbSNP
2g.165097304A>TCA349025182SCN3Ac.4136T>A (p.Val1379Glu)
c.4187T>A (p.Val1396Glu)
c.*2028T>A (n.*2028T>A)
c.*921T>A (n.*921T>A)
c.2396T>A (n.2396T>A)
c.4040T>A (p.Val1347Glu)
n.311T>A
c.2297T>A (p.Val766Glu)
c.4049T>A (p.Val1350Glu)
2g.165097305C>ACA349025184SCN3Ac.4135G>T (p.Val1379Leu)
c.4186G>T (p.Val1396Leu)
c.*2027G>T (n.*2027G>T)
c.*920G>T (n.*920G>T)
c.2395G>T (n.2395G>T)
c.4039G>T (p.Val1347Leu)
n.310G>T
c.2296G>T (p.Val766Leu)
c.4048G>T (p.Val1350Leu)
2g.165097305C=CA1304438424SCN3Ac.4135G= (p.Val1379=)
c.4186G= (p.Val1396=)
c.*2027G= (n.*2027G=)
c.*920G= (n.*920G=)
c.2395G= (n.2395G=)
c.4039G= (p.Val1347=)
n.310G=
c.2296G= (p.Val766=)
c.4048G= (p.Val1350=)
2g.165097305C>GCA349025187SCN3Ac.4135G>C (p.Val1379Leu)
c.4186G>C (p.Val1396Leu)
c.*2027G>C (n.*2027G>C)
c.*920G>C (n.*920G>C)
c.2395G>C (n.2395G>C)
c.4039G>C (p.Val1347Leu)
n.310G>C
c.2296G>C (p.Val766Leu)
c.4048G>C (p.Val1350Leu)
2g.165097305C>TCA1938635SCN3Ac.4135G>A (p.Val1379Met)
c.4186G>A (p.Val1396Met)
c.*2027G>A (n.*2027G>A)
c.*920G>A (n.*920G>A)
c.2395G>A (n.2395G>A)
c.4039G>A (p.Val1347Met)
n.310G>A
c.2296G>A (p.Val766Met)
c.4048G>A (p.Val1350Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165097306G>ACA1938636SCN3Ac.4134C>T (p.Asn1378=)
c.4185C>T (p.Asn1395=)
c.*2026C>T (n.*2026C>T)
c.*919C>T (n.*919C>T)
c.2394C>T (n.2394C>T)
c.4038C>T (p.Asn1346=)
n.309C>T
c.2295C>T (p.Asn765=)
c.4047C>T (p.Asn1349=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165097306G>CCA349025201SCN3Ac.4134C>G (p.Asn1378Lys)
c.4185C>G (p.Asn1395Lys)
c.*2026C>G (n.*2026C>G)
c.*919C>G (n.*919C>G)
c.2394C>G (n.2394C>G)
c.4038C>G (p.Asn1346Lys)
n.309C>G
c.2295C>G (p.Asn765Lys)
c.4047C>G (p.Asn1349Lys)
2g.165097306G=CA1304438425SCN3Ac.4134C= (p.Asn1378=)
c.4185C= (p.Asn1395=)
c.*2026C= (n.*2026C=)
c.*919C= (n.*919C=)
c.2394C= (n.2394C=)
c.4038C= (p.Asn1346=)
n.309C=
c.2295C= (p.Asn765=)
c.4047C= (p.Asn1349=)
2g.165097306G>TCA349025205SCN3Ac.4134C>A (p.Asn1378Lys)
c.4185C>A (p.Asn1395Lys)
c.*2026C>A (n.*2026C>A)
c.*919C>A (n.*919C>A)
c.2394C>A (n.2394C>A)
c.4038C>A (p.Asn1346Lys)
n.309C>A
c.2295C>A (p.Asn765Lys)
c.4047C>A (p.Asn1349Lys)
2g.165097307T>ACA349025206SCN3Ac.4133A>T (p.Asn1378Ile)
c.4184A>T (p.Asn1395Ile)
c.*2025A>T (n.*2025A>T)
c.*918A>T (n.*918A>T)
c.2393A>T (n.2393A>T)
c.4037A>T (p.Asn1346Ile)
n.308A>T
c.2294A>T (p.Asn765Ile)
c.4046A>T (p.Asn1349Ile)
2g.165097307T>CCA349025207SCN3Ac.4133A>G (p.Asn1378Ser)
c.4184A>G (p.Asn1395Ser)
c.*2025A>G (n.*2025A>G)
c.*918A>G (n.*918A>G)
c.2393A>G (n.2393A>G)
c.4037A>G (p.Asn1346Ser)
n.308A>G
c.2294A>G (p.Asn765Ser)
c.4046A>G (p.Asn1349Ser)
2g.165097307T>GCA349025208SCN3Ac.4133A>C (p.Asn1378Thr)
c.4184A>C (p.Asn1395Thr)
c.*2025A>C (n.*2025A>C)
c.*918A>C (n.*918A>C)
c.2393A>C (n.2393A>C)
c.4037A>C (p.Asn1346Thr)
n.308A>C
c.2294A>C (p.Asn765Thr)
c.4046A>C (p.Asn1349Thr)
2g.165097311delCA429880816SCN3Ac.4133del (p.Asn1378ThrfsTer2)
c.4184del (p.Asn1395ThrfsTer2)
c.*2025del (n.*2025del)
c.*918del (n.*918del)
c.2393del (n.2393del)
c.4037del (p.Asn1346ThrfsTer2)
n.308del
c.2294del (p.Asn765ThrfsTer2)
c.4046del (p.Asn1349ThrfsTer2)
2g.165097308T>ACA349025212SCN3Ac.4132A>T (p.Asn1378Tyr)
c.4183A>T (p.Asn1395Tyr)
c.*2024A>T (n.*2024A>T)
c.*917A>T (n.*917A>T)
c.2392A>T (n.2392A>T)
c.4036A>T (p.Asn1346Tyr)
n.307A>T
c.2293A>T (p.Asn765Tyr)
c.4045A>T (p.Asn1349Tyr)
2g.165097308T>CCA349025225SCN3Ac.4132A>G (p.Asn1378Asp)
c.4183A>G (p.Asn1395Asp)
c.*2024A>G (n.*2024A>G)
c.*917A>G (n.*917A>G)
c.2392A>G (n.2392A>G)
c.4036A>G (p.Asn1346Asp)
n.307A>G
c.2293A>G (p.Asn765Asp)
c.4045A>G (p.Asn1349Asp)
2g.165097308T>GCA349025224SCN3Ac.4132A>C (p.Asn1378His)
c.4183A>C (p.Asn1395His)
c.*2024A>C (n.*2024A>C)
c.*917A>C (n.*917A>C)
c.2392A>C (n.2392A>C)
c.4036A>C (p.Asn1346His)
n.307A>C
c.2293A>C (p.Asn765His)
c.4045A>C (p.Asn1349His)
2g.165097309T>ACA349025227SCN3Ac.4131A>T (p.Lys1377Asn)
c.4182A>T (p.Lys1394Asn)
c.*2023A>T (n.*2023A>T)
c.*916A>T (n.*916A>T)
c.2391A>T (n.2391A>T)
c.4035A>T (p.Lys1345Asn)
n.306A>T
c.2292A>T (p.Lys764Asn)
c.4044A>T (p.Lys1348Asn)
2g.165097309T>CCA429880817SCN3Ac.4131A>G (p.Lys1377=)
c.4182A>G (p.Lys1394=)
c.*2023A>G (n.*2023A>G)
c.*916A>G (n.*916A>G)
c.2391A>G (n.2391A>G)
c.4035A>G (p.Lys1345=)
n.306A>G
c.2292A>G (p.Lys764=)
c.4044A>G (p.Lys1348=)
 gnomAD v4
2g.165097309T>GCA349025228SCN3Ac.4131A>C (p.Lys1377Asn)
c.4182A>C (p.Lys1394Asn)
c.*2023A>C (n.*2023A>C)
c.*916A>C (n.*916A>C)
c.2391A>C (n.2391A>C)
c.4035A>C (p.Lys1345Asn)
n.306A>C
c.2292A>C (p.Lys764Asn)
c.4044A>C (p.Lys1348Asn)
2g.165097310T>ACA349025230SCN3Ac.4130A>T (p.Lys1377Ile)
c.4181A>T (p.Lys1394Ile)
c.*2022A>T (n.*2022A>T)
c.*915A>T (n.*915A>T)
c.2390A>T (n.2390A>T)
c.4034A>T (p.Lys1345Ile)
n.305A>T
c.2291A>T (p.Lys764Ile)
c.4043A>T (p.Lys1348Ile)
2g.165097310T>CCA349025235SCN3Ac.4130A>G (p.Lys1377Arg)
c.4181A>G (p.Lys1394Arg)
c.*2022A>G (n.*2022A>G)
c.*915A>G (n.*915A>G)
c.2390A>G (n.2390A>G)
c.4034A>G (p.Lys1345Arg)
n.305A>G
c.2291A>G (p.Lys764Arg)
c.4043A>G (p.Lys1348Arg)
2g.165097310T>GCA349025234SCN3Ac.4130A>C (p.Lys1377Thr)
c.4181A>C (p.Lys1394Thr)
c.*2022A>C (n.*2022A>C)
c.*915A>C (n.*915A>C)
c.2390A>C (n.2390A>C)
c.4034A>C (p.Lys1345Thr)
n.305A>C
c.2291A>C (p.Lys764Thr)
c.4043A>C (p.Lys1348Thr)
2g.165097311T>ACA349025245SCN3Ac.4129A>T (p.Lys1377Ter)
c.4180A>T (p.Lys1394Ter)
c.*2021A>T (n.*2021A>T)
c.*914A>T (n.*914A>T)
c.2389A>T (n.2389A>T)
c.4033A>T (p.Lys1345Ter)
n.304A>T
c.2290A>T (p.Lys764Ter)
c.4042A>T (p.Lys1348Ter)
 dbSNP
2g.165097311T>CCA349025248SCN3Ac.4129A>G (p.Lys1377Glu)
c.4180A>G (p.Lys1394Glu)
c.*2021A>G (n.*2021A>G)
c.*914A>G (n.*914A>G)
c.2389A>G (n.2389A>G)
c.4033A>G (p.Lys1345Glu)
n.304A>G
c.2290A>G (p.Lys764Glu)
c.4042A>G (p.Lys1348Glu)
2g.165097311T>GCA349025252SCN3Ac.4129A>C (p.Lys1377Gln)
c.4180A>C (p.Lys1394Gln)
c.*2021A>C (n.*2021A>C)
c.*914A>C (n.*914A>C)
c.2389A>C (n.2389A>C)
c.4033A>C (p.Lys1345Gln)
n.304A>C
c.2290A>C (p.Lys764Gln)
c.4042A>C (p.Lys1348Gln)
2g.165097311T=CA1304438426SCN3Ac.4129A= (p.Lys1377=)
c.4180A= (p.Lys1394=)
c.*2021A= (n.*2021A=)
c.*914A= (n.*914A=)
c.2389A= (n.2389A=)
c.4033A= (p.Lys1345=)
n.304A=
c.2290A= (p.Lys764=)
c.4042A= (p.Lys1348=)
2g.165097312C>ACA349025255SCN3Ac.4128G>T (p.Trp1376Cys)
c.4179G>T (p.Trp1393Cys)
c.*2020G>T (n.*2020G>T)
c.*913G>T (n.*913G>T)
c.2388G>T (n.2388G>T)
c.4032G>T (p.Trp1344Cys)
n.303G>T
c.2289G>T (p.Trp763Cys)
c.4041G>T (p.Trp1347Cys)
2g.165097312C=CA1304438427SCN3Ac.4128G= (p.Trp1376=)
c.4179G= (p.Trp1393=)
c.*2020G= (n.*2020G=)
c.*913G= (n.*913G=)
c.2388G= (n.2388G=)
c.4032G= (p.Trp1344=)
n.303G=
c.2289G= (p.Trp763=)
c.4041G= (p.Trp1347=)
2g.165097312C>GCA349025257SCN3Ac.4128G>C (p.Trp1376Cys)
c.4179G>C (p.Trp1393Cys)
c.*2020G>C (n.*2020G>C)
c.*913G>C (n.*913G>C)
c.2388G>C (n.2388G>C)
c.4032G>C (p.Trp1344Cys)
n.303G>C
c.2289G>C (p.Trp763Cys)
c.4041G>C (p.Trp1347Cys)
2g.165097312C>TCA349025259SCN3Ac.4128G>A (p.Trp1376Ter)
c.4179G>A (p.Trp1393Ter)
c.*2020G>A (n.*2020G>A)
c.*913G>A (n.*913G>A)
c.2388G>A (n.2388G>A)
c.4032G>A (p.Trp1344Ter)
n.303G>A
c.2289G>A (p.Trp763Ter)
c.4041G>A (p.Trp1347Ter)
 dbSNP
2g.165097313C>ACA349025270SCN3Ac.4127G>T (p.Trp1376Leu)
c.4178G>T (p.Trp1393Leu)
c.*2019G>T (n.*2019G>T)
c.*912G>T (n.*912G>T)
c.2387G>T (n.2387G>T)
c.4031G>T (p.Trp1344Leu)
n.302G>T
c.2288G>T (p.Trp763Leu)
c.4040G>T (p.Trp1347Leu)
2g.165097313C>GCA349025272SCN3Ac.4127G>C (p.Trp1376Ser)
c.4178G>C (p.Trp1393Ser)
c.*2019G>C (n.*2019G>C)
c.*912G>C (n.*912G>C)
c.2387G>C (n.2387G>C)
c.4031G>C (p.Trp1344Ser)
n.302G>C
c.2288G>C (p.Trp763Ser)
c.4040G>C (p.Trp1347Ser)
2g.165097313C>TCA349025273SCN3Ac.4127G>A (p.Trp1376Ter)
c.4178G>A (p.Trp1393Ter)
c.*2019G>A (n.*2019G>A)
c.*912G>A (n.*912G>A)
c.2387G>A (n.2387G>A)
c.4031G>A (p.Trp1344Ter)
n.302G>A
c.2288G>A (p.Trp763Ter)
c.4040G>A (p.Trp1347Ter)
 ClinVar
2g.165097314A>CCA349025279SCN3Ac.4126T>G (p.Trp1376Gly)
c.4177T>G (p.Trp1393Gly)
c.*2018T>G (n.*2018T>G)
c.*911T>G (n.*911T>G)
c.2386T>G (n.2386T>G)
c.4030T>G (p.Trp1344Gly)
n.301T>G
c.2287T>G (p.Trp763Gly)
c.4039T>G (p.Trp1347Gly)
2g.165097314A>GCA349025281SCN3Ac.4126T>C (p.Trp1376Arg)
c.4177T>C (p.Trp1393Arg)
c.*2018T>C (n.*2018T>C)
c.*911T>C (n.*911T>C)
c.2386T>C (n.2386T>C)
c.4030T>C (p.Trp1344Arg)
n.301T>C
c.2287T>C (p.Trp763Arg)
c.4039T>C (p.Trp1347Arg)
2g.165097314A>TCA349025284SCN3Ac.4126T>A (p.Trp1376Arg)
c.4177T>A (p.Trp1393Arg)
c.*2018T>A (n.*2018T>A)
c.*911T>A (n.*911T>A)
c.2386T>A (n.2386T>A)
c.4030T>A (p.Trp1344Arg)
n.301T>A
c.2287T>A (p.Trp763Arg)
c.4039T>A (p.Trp1347Arg)
2g.165097315C>ACA429880818SCN3Ac.4125G>T (p.Arg1375=)
c.4176G>T (p.Arg1392=)
c.*2017G>T (n.*2017G>T)
c.*910G>T (n.*910G>T)
c.2385G>T (n.2385G>T)
c.4029G>T (p.Arg1343=)
n.300G>T
c.2286G>T (p.Arg762=)
c.4038G>T (p.Arg1346=)
2g.165097315C>GCA429880819SCN3Ac.4125G>C (p.Arg1375=)
c.4176G>C (p.Arg1392=)
c.*2017G>C (n.*2017G>C)
c.*910G>C (n.*910G>C)
c.2385G>C (n.2385G>C)
c.4029G>C (p.Arg1343=)
n.300G>C
c.2286G>C (p.Arg762=)
c.4038G>C (p.Arg1346=)
2g.165097315C>TCA429880820SCN3Ac.4125G>A (p.Arg1375=)
c.4176G>A (p.Arg1392=)
c.*2017G>A (n.*2017G>A)
c.*910G>A (n.*910G>A)
c.2385G>A (n.2385G>A)
c.4029G>A (p.Arg1343=)
n.300G>A
c.2286G>A (p.Arg762=)
c.4038G>A (p.Arg1346=)
 COSMIC COSMIC
2g.165097316C>ACA349025287SCN3Ac.4124G>T (p.Arg1375Leu)
c.4175G>T (p.Arg1392Leu)
c.*2016G>T (n.*2016G>T)
c.*909G>T (n.*909G>T)
c.2384G>T (n.2384G>T)
c.4028G>T (p.Arg1343Leu)
n.299G>T
c.2285G>T (p.Arg762Leu)
c.4037G>T (p.Arg1346Leu)
2g.165097316C=CA1304438428SCN3Ac.4124G= (p.Arg1375=)
c.4175G= (p.Arg1392=)
c.*2016G= (n.*2016G=)
c.*909G= (n.*909G=)
c.2384G= (n.2384G=)
c.4028G= (p.Arg1343=)
n.299G=
c.2285G= (p.Arg762=)
c.4037G= (p.Arg1346=)
2g.165097316C>GCA349025292SCN3Ac.4124G>C (p.Arg1375Pro)
c.4175G>C (p.Arg1392Pro)
c.*2016G>C (n.*2016G>C)
c.*909G>C (n.*909G>C)
c.2384G>C (n.2384G>C)
c.4028G>C (p.Arg1343Pro)
n.299G>C
c.2285G>C (p.Arg762Pro)
c.4037G>C (p.Arg1346Pro)
2g.165097316C>TCA1938637SCN3Ac.4124G>A (p.Arg1375Gln)
c.4175G>A (p.Arg1392Gln)
c.*2016G>A (n.*2016G>A)
c.*909G>A (n.*909G>A)
c.2384G>A (n.2384G>A)
c.4028G>A (p.Arg1343Gln)
n.299G>A
c.2285G>A (p.Arg762Gln)
c.4037G>A (p.Arg1346Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165097317G>ACA349025295SCN3Ac.4123C>T (p.Arg1375Trp)
c.4174C>T (p.Arg1392Trp)
c.*2015C>T (n.*2015C>T)
c.*908C>T (n.*908C>T)
c.2383C>T (n.2383C>T)
c.4027C>T (p.Arg1343Trp)
n.298C>T
c.2284C>T (p.Arg762Trp)
c.4036C>T (p.Arg1346Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.165097317G>CCA1938638SCN3Ac.4123C>G (p.Arg1375Gly)
c.4174C>G (p.Arg1392Gly)
c.*2015C>G (n.*2015C>G)
c.*908C>G (n.*908C>G)
c.2383C>G (n.2383C>G)
c.4027C>G (p.Arg1343Gly)
n.298C>G
c.2284C>G (p.Arg762Gly)
c.4036C>G (p.Arg1346Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165097317G=CA1304438429SCN3Ac.4123C= (p.Arg1375=)
c.4174C= (p.Arg1392=)
c.*2015C= (n.*2015C=)
c.*908C= (n.*908C=)
c.2383C= (n.2383C=)
c.4027C= (p.Arg1343=)
n.298C=
c.2284C= (p.Arg762=)
c.4036C= (p.Arg1346=)
2g.165097317G>TCA429880821SCN3Ac.4123C>A (p.Arg1375=)
c.4174C>A (p.Arg1392=)
c.*2015C>A (n.*2015C>A)
c.*908C>A (n.*908C>A)
c.2383C>A (n.2383C>A)
c.4027C>A (p.Arg1343=)
n.298C>A
c.2284C>A (p.Arg762=)
c.4036C>A (p.Arg1346=)
2g.165097318A>CCA429880822SCN3Ac.4122T>G (p.Ala1374=)
c.4173T>G (p.Ala1391=)
c.*2014T>G (n.*2014T>G)
c.*907T>G (n.*907T>G)
c.2382T>G (n.2382T>G)
c.4026T>G (p.Ala1342=)
n.297T>G
c.2283T>G (p.Ala761=)
c.4035T>G (p.Ala1345=)
2g.165097318A>GCA429880823SCN3Ac.4122T>C (p.Ala1374=)
c.4173T>C (p.Ala1391=)
c.*2014T>C (n.*2014T>C)
c.*907T>C (n.*907T>C)
c.2382T>C (n.2382T>C)
c.4026T>C (p.Ala1342=)
n.297T>C
c.2283T>C (p.Ala761=)
c.4035T>C (p.Ala1345=)
2g.165097318A>TCA429880824SCN3Ac.4122T>A (p.Ala1374=)
c.4173T>A (p.Ala1391=)
c.*2014T>A (n.*2014T>A)
c.*907T>A (n.*907T>A)
c.2382T>A (n.2382T>A)
c.4026T>A (p.Ala1342=)
n.297T>A
c.2283T>A (p.Ala761=)
c.4035T>A (p.Ala1345=)
2g.165097319G>ACA349025298SCN3Ac.4121C>T (p.Ala1374Val)
c.4172C>T (p.Ala1391Val)
c.*2013C>T (n.*2013C>T)
c.*906C>T (n.*906C>T)
c.2381C>T (n.2381C>T)
c.4025C>T (p.Ala1342Val)
n.296C>T
c.2282C>T (p.Ala761Val)
c.4034C>T (p.Ala1345Val)
2g.165097319G>CCA349025299SCN3Ac.4121C>G (p.Ala1374Gly)
c.4172C>G (p.Ala1391Gly)
c.*2013C>G (n.*2013C>G)
c.*906C>G (n.*906C>G)
c.2381C>G (n.2381C>G)
c.4025C>G (p.Ala1342Gly)
n.296C>G
c.2282C>G (p.Ala761Gly)
c.4034C>G (p.Ala1345Gly)
2g.165097319G>TCA349025300SCN3Ac.4121C>A (p.Ala1374Asp)
c.4172C>A (p.Ala1391Asp)
c.*2013C>A (n.*2013C>A)
c.*906C>A (n.*906C>A)
c.2381C>A (n.2381C>A)
c.4025C>A (p.Ala1342Asp)
n.296C>A
c.2282C>A (p.Ala761Asp)
c.4034C>A (p.Ala1345Asp)
2g.165097320C>ACA349025304SCN3Ac.4120G>T (p.Ala1374Ser)
c.4171G>T (p.Ala1391Ser)
c.*2012G>T (n.*2012G>T)
c.*905G>T (n.*905G>T)
c.2380G>T (n.2380G>T)
c.4024G>T (p.Ala1342Ser)
n.295G>T
c.2281G>T (p.Ala761Ser)
c.4033G>T (p.Ala1345Ser)
2g.165097320C>GCA349025307SCN3Ac.4120G>C (p.Ala1374Pro)
c.4171G>C (p.Ala1391Pro)
c.*2012G>C (n.*2012G>C)
c.*905G>C (n.*905G>C)
c.2380G>C (n.2380G>C)
c.4024G>C (p.Ala1342Pro)
n.295G>C
c.2281G>C (p.Ala761Pro)
c.4033G>C (p.Ala1345Pro)
2g.165097320C>TCA349025310SCN3Ac.4120G>A (p.Ala1374Thr)
c.4171G>A (p.Ala1391Thr)
c.*2012G>A (n.*2012G>A)
c.*905G>A (n.*905G>A)
c.2380G>A (n.2380G>A)
c.4024G>A (p.Ala1342Thr)
n.295G>A
c.2281G>A (p.Ala761Thr)
c.4033G>A (p.Ala1345Thr)
2g.165097321T>ACA349025311SCN3Ac.4119A>T (p.Gln1373His)
c.4170A>T (p.Gln1390His)
c.*2011A>T (n.*2011A>T)
c.*904A>T (n.*904A>T)
c.2379A>T (n.2379A>T)
c.4023A>T (p.Gln1341His)
n.294A>T
c.2280A>T (p.Gln760His)
c.4032A>T (p.Gln1344His)
2g.165097321T>CCA429880825SCN3Ac.4119A>G (p.Gln1373=)
c.4170A>G (p.Gln1390=)
c.*2011A>G (n.*2011A>G)
c.*904A>G (n.*904A>G)
c.2379A>G (n.2379A>G)
c.4023A>G (p.Gln1341=)
n.294A>G
c.2280A>G (p.Gln760=)
c.4032A>G (p.Gln1344=)
2g.165097321T>GCA349025312SCN3Ac.4119A>C (p.Gln1373His)
c.4170A>C (p.Gln1390His)
c.*2011A>C (n.*2011A>C)
c.*904A>C (n.*904A>C)
c.2379A>C (n.2379A>C)
c.4023A>C (p.Gln1341His)
n.294A>C
c.2280A>C (p.Gln760His)
c.4032A>C (p.Gln1344His)
 gnomAD v4 COSMIC COSMIC
2g.165097322T>ACA349025316SCN3Ac.4118A>T (p.Gln1373Leu)
c.4169A>T (p.Gln1390Leu)
c.*2010A>T (n.*2010A>T)
c.*903A>T (n.*903A>T)
c.2378A>T (n.2378A>T)
c.4022A>T (p.Gln1341Leu)
n.293A>T
c.2279A>T (p.Gln760Leu)
c.4031A>T (p.Gln1344Leu)
2g.165097322T>CCA349025319SCN3Ac.4118A>G (p.Gln1373Arg)
c.4169A>G (p.Gln1390Arg)
c.*2010A>G (n.*2010A>G)
c.*903A>G (n.*903A>G)
c.2378A>G (n.2378A>G)
c.4022A>G (p.Gln1341Arg)
n.293A>G
c.2279A>G (p.Gln760Arg)
c.4031A>G (p.Gln1344Arg)
2g.165097322T>GCA349025314SCN3Ac.4118A>C (p.Gln1373Pro)
c.4169A>C (p.Gln1390Pro)
c.*2010A>C (n.*2010A>C)
c.*903A>C (n.*903A>C)
c.2378A>C (n.2378A>C)
c.4022A>C (p.Gln1341Pro)
n.293A>C
c.2279A>C (p.Gln760Pro)
c.4031A>C (p.Gln1344Pro)
2g.165097323G>ACA349025321SCN3Ac.4117C>T (p.Gln1373Ter)
c.4168C>T (p.Gln1390Ter)
c.*2009C>T (n.*2009C>T)
c.*902C>T (n.*902C>T)
c.2377C>T (n.2377C>T)
c.4021C>T (p.Gln1341Ter)
n.292C>T
c.2278C>T (p.Gln760Ter)
c.4030C>T (p.Gln1344Ter)
2g.165097323G>CCA349025325SCN3Ac.4117C>G (p.Gln1373Glu)
c.4168C>G (p.Gln1390Glu)
c.*2009C>G (n.*2009C>G)
c.*902C>G (n.*902C>G)
c.2377C>G (n.2377C>G)
c.4021C>G (p.Gln1341Glu)
n.292C>G
c.2278C>G (p.Gln760Glu)
c.4030C>G (p.Gln1344Glu)
 ClinVar dbSNP
2g.165097323G=CA1304438430SCN3Ac.4117C= (p.Gln1373=)
c.4168C= (p.Gln1390=)
c.*2009C= (n.*2009C=)
c.*902C= (n.*902C=)
c.2377C= (n.2377C=)
c.4021C= (p.Gln1341=)
n.292C=
c.2278C= (p.Gln760=)
c.4030C= (p.Gln1344=)
2g.165097323G>TCA349025328SCN3Ac.4117C>A (p.Gln1373Lys)
c.4168C>A (p.Gln1390Lys)
c.*2009C>A (n.*2009C>A)
c.*902C>A (n.*902C>A)
c.2377C>A (n.2377C>A)
c.4021C>A (p.Gln1341Lys)
n.292C>A
c.2278C>A (p.Gln760Lys)
c.4030C>A (p.Gln1344Lys)
 gnomAD v4
2g.165097324C>ACA349025330SCN3Ac.4116G>T (p.Lys1372Asn)
c.4167G>T (p.Lys1389Asn)
c.*2008G>T (n.*2008G>T)
c.*901G>T (n.*901G>T)
c.2376G>T (n.2376G>T)
c.4020G>T (p.Lys1340Asn)
n.291G>T
c.2277G>T (p.Lys759Asn)
c.4029G>T (p.Lys1343Asn)
2g.165097324C>GCA349025334SCN3Ac.4116G>C (p.Lys1372Asn)
c.4167G>C (p.Lys1389Asn)
c.*2008G>C (n.*2008G>C)
c.*901G>C (n.*901G>C)
c.2376G>C (n.2376G>C)
c.4020G>C (p.Lys1340Asn)
n.291G>C
c.2277G>C (p.Lys759Asn)
c.4029G>C (p.Lys1343Asn)
2g.165097324C>TCA429880826SCN3Ac.4116G>A (p.Lys1372=)
c.4167G>A (p.Lys1389=)
c.*2008G>A (n.*2008G>A)
c.*901G>A (n.*901G>A)
c.2376G>A (n.2376G>A)
c.4020G>A (p.Lys1340=)
n.291G>A
c.2277G>A (p.Lys759=)
c.4029G>A (p.Lys1343=)
2g.165097325T>ACA349025347SCN3Ac.4115A>T (p.Lys1372Met)
c.4166A>T (p.Lys1389Met)
c.*2007A>T (n.*2007A>T)
c.*900A>T (n.*900A>T)
c.2375A>T (n.2375A>T)
c.4019A>T (p.Lys1340Met)
n.290A>T
c.2276A>T (p.Lys759Met)
c.4028A>T (p.Lys1343Met)
2g.165097325T>CCA349025343SCN3Ac.4115A>G (p.Lys1372Arg)
c.4166A>G (p.Lys1389Arg)
c.*2007A>G (n.*2007A>G)
c.*900A>G (n.*900A>G)
c.2375A>G (n.2375A>G)
c.4019A>G (p.Lys1340Arg)
n.290A>G
c.2276A>G (p.Lys759Arg)
c.4028A>G (p.Lys1343Arg)
2g.165097325T>GCA349025340SCN3Ac.4115A>C (p.Lys1372Thr)
c.4166A>C (p.Lys1389Thr)
c.*2007A>C (n.*2007A>C)
c.*900A>C (n.*900A>C)
c.2375A>C (n.2375A>C)
c.4019A>C (p.Lys1340Thr)
n.290A>C
c.2276A>C (p.Lys759Thr)
c.4028A>C (p.Lys1343Thr)
 gnomAD v4
2g.165097326T>ACA349025350SCN3Ac.4114A>T (p.Lys1372Ter)
c.4165A>T (p.Lys1389Ter)
c.*2006A>T (n.*2006A>T)
c.*899A>T (n.*899A>T)
c.2374A>T (n.2374A>T)
c.4018A>T (p.Lys1340Ter)
n.289A>T
c.2275A>T (p.Lys759Ter)
c.4027A>T (p.Lys1343Ter)
 dbSNP
2g.165097326T>CCA349025357SCN3Ac.4114A>G (p.Lys1372Glu)
c.4165A>G (p.Lys1389Glu)
c.*2006A>G (n.*2006A>G)
c.*899A>G (n.*899A>G)
c.2374A>G (n.2374A>G)
c.4018A>G (p.Lys1340Glu)
n.289A>G
c.2275A>G (p.Lys759Glu)
c.4027A>G (p.Lys1343Glu)
2g.165097326T>GCA349025360SCN3Ac.4114A>C (p.Lys1372Gln)
c.4165A>C (p.Lys1389Gln)
c.*2006A>C (n.*2006A>C)
c.*899A>C (n.*899A>C)
c.2374A>C (n.2374A>C)
c.4018A>C (p.Lys1340Gln)
n.289A>C
c.2275A>C (p.Lys759Gln)
c.4027A>C (p.Lys1343Gln)
 gnomAD v4
2g.165097326T=CA1304438431SCN3Ac.4114A= (p.Lys1372=)
c.4165A= (p.Lys1389=)
c.*2006A= (n.*2006A=)
c.*899A= (n.*899A=)
c.2374A= (n.2374A=)
c.4018A= (p.Lys1340=)
n.289A=
c.2275A= (p.Lys759=)
c.4027A= (p.Lys1343=)
2g.165097327G>ACA429880827SCN3Ac.4113C>T (p.Gly1371=)
c.4164C>T (p.Gly1388=)
c.*2005C>T (n.*2005C>T)
c.*898C>T (n.*898C>T)
c.2373C>T (n.2373C>T)
c.4017C>T (p.Gly1339=)
n.288C>T
c.2274C>T (p.Gly758=)
c.4026C>T (p.Gly1342=)
2g.165097327G>CCA429880829SCN3Ac.4113C>G (p.Gly1371=)
c.4164C>G (p.Gly1388=)
c.*2005C>G (n.*2005C>G)
c.*898C>G (n.*898C>G)
c.2373C>G (n.2373C>G)
c.4017C>G (p.Gly1339=)
n.288C>G
c.2274C>G (p.Gly758=)
c.4026C>G (p.Gly1342=)
2g.165097327G>TCA429880828SCN3Ac.4113C>A (p.Gly1371=)
c.4164C>A (p.Gly1388=)
c.*2005C>A (n.*2005C>A)
c.*898C>A (n.*898C>A)
c.2373C>A (n.2373C>A)
c.4017C>A (p.Gly1339=)
n.288C>A
c.2274C>A (p.Gly758=)
c.4026C>A (p.Gly1342=)
 gnomAD v4
2g.165097328C>ACA349025363SCN3Ac.4112G>T (p.Gly1371Val)
c.4163G>T (p.Gly1388Val)
c.*2004G>T (n.*2004G>T)
c.*897G>T (n.*897G>T)
c.2372G>T (n.2372G>T)
c.4016G>T (p.Gly1339Val)
n.287G>T
c.2273G>T (p.Gly758Val)
c.4025G>T (p.Gly1342Val)
2g.165097328C=CA1304438432SCN3Ac.4112G= (p.Gly1371=)
c.4163G= (p.Gly1388=)
c.*2004G= (n.*2004G=)
c.*897G= (n.*897G=)
c.2372G= (n.2372G=)
c.4016G= (p.Gly1339=)
n.287G=
c.2273G= (p.Gly758=)
c.4025G= (p.Gly1342=)
2g.165097328C>GCA349025370SCN3Ac.4112G>C (p.Gly1371Ala)
c.4163G>C (p.Gly1388Ala)
c.*2004G>C (n.*2004G>C)
c.*897G>C (n.*897G>C)
c.2372G>C (n.2372G>C)
c.4016G>C (p.Gly1339Ala)
n.287G>C
c.2273G>C (p.Gly758Ala)
c.4025G>C (p.Gly1342Ala)
 ClinVar dbSNP gnomAD v4
2g.165097328C>TCA349025371SCN3Ac.4112G>A (p.Gly1371Asp)
c.4163G>A (p.Gly1388Asp)
c.*2004G>A (n.*2004G>A)
c.*897G>A (n.*897G>A)
c.2372G>A (n.2372G>A)
c.4016G>A (p.Gly1339Asp)
n.287G>A
c.2273G>A (p.Gly758Asp)
c.4025G>A (p.Gly1342Asp)
2g.165097329C>ACA349025373SCN3Ac.4111G>T (p.Gly1371Cys)
c.4162G>T (p.Gly1388Cys)
c.*2003G>T (n.*2003G>T)
c.*896G>T (n.*896G>T)
c.2371G>T (n.2371G>T)
c.4015G>T (p.Gly1339Cys)
n.286G>T
c.2272G>T (p.Gly758Cys)
c.4024G>T (p.Gly1342Cys)
2g.165097329C>GCA349025376SCN3Ac.4111G>C (p.Gly1371Arg)
c.4162G>C (p.Gly1388Arg)
c.*2003G>C (n.*2003G>C)
c.*896G>C (n.*896G>C)
c.2371G>C (n.2371G>C)
c.4015G>C (p.Gly1339Arg)
n.286G>C
c.2272G>C (p.Gly758Arg)
c.4024G>C (p.Gly1342Arg)
2g.165097329C>TCA349025374SCN3Ac.4111G>A (p.Gly1371Ser)
c.4162G>A (p.Gly1388Ser)
c.*2003G>A (n.*2003G>A)
c.*896G>A (n.*896G>A)
c.2371G>A (n.2371G>A)
c.4015G>A (p.Gly1339Ser)
n.286G>A
c.2272G>A (p.Gly758Ser)
c.4024G>A (p.Gly1342Ser)
2g.165097330A>CCA429880830SCN3Ac.4110T>G (p.Leu1370=)
c.4161T>G (p.Leu1387=)
c.*2002T>G (n.*2002T>G)
c.*895T>G (n.*895T>G)
c.2370T>G (n.2370T>G)
c.4014T>G (p.Leu1338=)
n.285T>G
c.2271T>G (p.Leu757=)
c.4023T>G (p.Leu1341=)
2g.165097330A>GCA429880831SCN3Ac.4110T>C (p.Leu1370=)
c.4161T>C (p.Leu1387=)
c.*2002T>C (n.*2002T>C)
c.*895T>C (n.*895T>C)
c.2370T>C (n.2370T>C)
c.4014T>C (p.Leu1338=)
n.285T>C
c.2271T>C (p.Leu757=)
c.4023T>C (p.Leu1341=)
 gnomAD v4
2g.165097330A>TCA429880832SCN3Ac.4110T>A (p.Leu1370=)
c.4161T>A (p.Leu1387=)
c.*2002T>A (n.*2002T>A)
c.*895T>A (n.*895T>A)
c.2370T>A (n.2370T>A)
c.4014T>A (p.Leu1338=)
n.285T>A
c.2271T>A (p.Leu757=)
c.4023T>A (p.Leu1341=)
2g.165097331A>CCA349025382SCN3Ac.4109T>G (p.Leu1370Arg)
c.4160T>G (p.Leu1387Arg)
c.*2001T>G (n.*2001T>G)
c.*894T>G (n.*894T>G)
c.2369T>G (n.2369T>G)
c.4013T>G (p.Leu1338Arg)
n.284T>G
c.2270T>G (p.Leu757Arg)
c.4022T>G (p.Leu1341Arg)
2g.165097331A>GCA349025384SCN3Ac.4109T>C (p.Leu1370Pro)
c.4160T>C (p.Leu1387Pro)
c.*2001T>C (n.*2001T>C)
c.*894T>C (n.*894T>C)
c.2369T>C (n.2369T>C)
c.4013T>C (p.Leu1338Pro)
n.284T>C
c.2270T>C (p.Leu757Pro)
c.4022T>C (p.Leu1341Pro)
2g.165097331A>TCA349025387SCN3Ac.4109T>A (p.Leu1370His)
c.4160T>A (p.Leu1387His)
c.*2001T>A (n.*2001T>A)
c.*894T>A (n.*894T>A)
c.2369T>A (n.2369T>A)
c.4013T>A (p.Leu1338His)
n.284T>A
c.2270T>A (p.Leu757His)
c.4022T>A (p.Leu1341His)
2g.165097332G>ACA349025391SCN3Ac.4108C>T (p.Leu1370Phe)
c.4159C>T (p.Leu1387Phe)
c.*2000C>T (n.*2000C>T)
c.*893C>T (n.*893C>T)
c.2368C>T (n.2368C>T)
c.4012C>T (p.Leu1338Phe)
n.283C>T
c.2269C>T (p.Leu757Phe)
c.4021C>T (p.Leu1341Phe)
 dbSNP
2g.165097332G>CCA349025393SCN3Ac.4108C>G (p.Leu1370Val)
c.4159C>G (p.Leu1387Val)
c.*2000C>G (n.*2000C>G)
c.*893C>G (n.*893C>G)
c.2368C>G (n.2368C>G)
c.4012C>G (p.Leu1338Val)
n.283C>G
c.2269C>G (p.Leu757Val)
c.4021C>G (p.Leu1341Val)
2g.165097332G=CA1304438433SCN3Ac.4108C= (p.Leu1370=)
c.4159C= (p.Leu1387=)
c.*2000C= (n.*2000C=)
c.*893C= (n.*893C=)
c.2368C= (n.2368C=)
c.4012C= (p.Leu1338=)
n.283C=
c.2269C= (p.Leu757=)
c.4021C= (p.Leu1341=)
2g.165097332G>TCA349025394SCN3Ac.4108C>A (p.Leu1370Ile)
c.4159C>A (p.Leu1387Ile)
c.*2000C>A (n.*2000C>A)
c.*893C>A (n.*893C>A)
c.2368C>A (n.2368C>A)
c.4012C>A (p.Leu1338Ile)
n.283C>A
c.2269C>A (p.Leu757Ile)
c.4021C>A (p.Leu1341Ile)
2g.165097333A>CCA429880833SCN3Ac.4107T>G (p.Ala1369=)
c.4158T>G (p.Ala1386=)
c.*1999T>G (n.*1999T>G)
c.*892T>G (n.*892T>G)
c.2367T>G (n.2367T>G)
c.4011T>G (p.Ala1337=)
n.282T>G
c.2268T>G (p.Ala756=)
c.4020T>G (p.Ala1340=)
2g.165097333A>GCA429880834SCN3Ac.4107T>C (p.Ala1369=)
c.4158T>C (p.Ala1386=)
c.*1999T>C (n.*1999T>C)
c.*892T>C (n.*892T>C)
c.2367T>C (n.2367T>C)
c.4011T>C (p.Ala1337=)
n.282T>C
c.2268T>C (p.Ala756=)
c.4020T>C (p.Ala1340=)
2g.165097333A>TCA429880835SCN3Ac.4107T>A (p.Ala1369=)
c.4158T>A (p.Ala1386=)
c.*1999T>A (n.*1999T>A)
c.*892T>A (n.*892T>A)
c.2367T>A (n.2367T>A)
c.4011T>A (p.Ala1337=)
n.282T>A
c.2268T>A (p.Ala756=)
c.4020T>A (p.Ala1340=)
 COSMIC
2g.165097334G>ACA349025395SCN3Ac.4106C>T (p.Ala1369Val)
c.4157C>T (p.Ala1386Val)
c.*1998C>T (n.*1998C>T)
c.*891C>T (n.*891C>T)
c.2366C>T (n.2366C>T)
c.4010C>T (p.Ala1337Val)
n.281C>T
c.2267C>T (p.Ala756Val)
c.4019C>T (p.Ala1340Val)
2g.165097334G>CCA349025396SCN3Ac.4106C>G (p.Ala1369Gly)
c.4157C>G (p.Ala1386Gly)
c.*1998C>G (n.*1998C>G)
c.*891C>G (n.*891C>G)
c.2366C>G (n.2366C>G)
c.4010C>G (p.Ala1337Gly)
n.281C>G
c.2267C>G (p.Ala756Gly)
c.4019C>G (p.Ala1340Gly)
2g.165097334G>TCA349025398SCN3Ac.4106C>A (p.Ala1369Asp)
c.4157C>A (p.Ala1386Asp)
c.*1998C>A (n.*1998C>A)
c.*891C>A (n.*891C>A)
c.2366C>A (n.2366C>A)
c.4010C>A (p.Ala1337Asp)
n.281C>A
c.2267C>A (p.Ala756Asp)
c.4019C>A (p.Ala1340Asp)
2g.165097335C>ACA349025405SCN3Ac.4105G>T (p.Ala1369Ser)
c.4156G>T (p.Ala1386Ser)
c.*1997G>T (n.*1997G>T)
c.*890G>T (n.*890G>T)
c.2365G>T (n.2365G>T)
c.4009G>T (p.Ala1337Ser)
n.280G>T
c.2266G>T (p.Ala756Ser)
c.4018G>T (p.Ala1340Ser)
 dbSNP
2g.165097335C=CA1304438434SCN3Ac.4105G= (p.Ala1369=)
c.4156G= (p.Ala1386=)
c.*1997G= (n.*1997G=)
c.*890G= (n.*890G=)
c.2365G= (n.2365G=)
c.4009G= (p.Ala1337=)
n.280G=
c.2266G= (p.Ala756=)
c.4018G= (p.Ala1340=)
2g.165097335C>GCA349025406SCN3Ac.4105G>C (p.Ala1369Pro)
c.4156G>C (p.Ala1386Pro)
c.*1997G>C (n.*1997G>C)
c.*890G>C (n.*890G>C)
c.2365G>C (n.2365G>C)
c.4009G>C (p.Ala1337Pro)
n.280G>C
c.2266G>C (p.Ala756Pro)
c.4018G>C (p.Ala1340Pro)
2g.165097335C>TCA349025407SCN3Ac.4105G>A (p.Ala1369Thr)
c.4156G>A (p.Ala1386Thr)
c.*1997G>A (n.*1997G>A)
c.*890G>A (n.*890G>A)
c.2365G>A (n.2365G>A)
c.4009G>A (p.Ala1337Thr)
n.280G>A
c.2266G>A (p.Ala756Thr)
c.4018G>A (p.Ala1340Thr)
2g.165097336C>ACA349025411SCN3Ac.4104G>T (p.Gln1368His)
c.4155G>T (p.Gln1385His)
c.*1996G>T (n.*1996G>T)
c.*889G>T (n.*889G>T)
c.2364G>T (n.2364G>T)
c.4008G>T (p.Gln1336His)
n.279G>T
c.2265G>T (p.Gln755His)
c.4017G>T (p.Gln1339His)
2g.165097336C>GCA349025409SCN3Ac.4104G>C (p.Gln1368His)
c.4155G>C (p.Gln1385His)
c.*1996G>C (n.*1996G>C)
c.*889G>C (n.*889G>C)
c.2364G>C (n.2364G>C)
c.4008G>C (p.Gln1336His)
n.279G>C
c.2265G>C (p.Gln755His)
c.4017G>C (p.Gln1339His)
2g.165097336C>TCA429880836SCN3Ac.4104G>A (p.Gln1368=)
c.4155G>A (p.Gln1385=)
c.*1996G>A (n.*1996G>A)
c.*889G>A (n.*889G>A)
c.2364G>A (n.2364G>A)
c.4008G>A (p.Gln1336=)
n.279G>A
c.2265G>A (p.Gln755=)
c.4017G>A (p.Gln1339=)
 ClinVar dbSNP
2g.165097337T>ACA349025414SCN3Ac.4103A>T (p.Gln1368Leu)
c.4154A>T (p.Gln1385Leu)
c.*1995A>T (n.*1995A>T)
c.*888A>T (n.*888A>T)
c.2363A>T (n.2363A>T)
c.4007A>T (p.Gln1336Leu)
n.278A>T
c.2264A>T (p.Gln755Leu)
c.4016A>T (p.Gln1339Leu)
2g.165097337T>CCA349025420SCN3Ac.4103A>G (p.Gln1368Arg)
c.4154A>G (p.Gln1385Arg)
c.*1995A>G (n.*1995A>G)
c.*888A>G (n.*888A>G)
c.2363A>G (n.2363A>G)
c.4007A>G (p.Gln1336Arg)
n.278A>G
c.2264A>G (p.Gln755Arg)
c.4016A>G (p.Gln1339Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.165097337T>GCA349025416SCN3Ac.4103A>C (p.Gln1368Pro)
c.4154A>C (p.Gln1385Pro)
c.*1995A>C (n.*1995A>C)
c.*888A>C (n.*888A>C)
c.2363A>C (n.2363A>C)
c.4007A>C (p.Gln1336Pro)
n.278A>C
c.2264A>C (p.Gln755Pro)
c.4016A>C (p.Gln1339Pro)
2g.165097337T=CA1304438435SCN3Ac.4103A= (p.Gln1368=)
c.4154A= (p.Gln1385=)
c.*1995A= (n.*1995A=)
c.*888A= (n.*888A=)
c.2363A= (n.2363A=)
c.4007A= (p.Gln1336=)
n.278A=
c.2264A= (p.Gln755=)
c.4016A= (p.Gln1339=)
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)

Number of alleles fetched