Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.107634786G>ACA365171595SOBPc.1942G>A (p.Gly648Ser)
c.2095G>A (p.Gly699Ser)
c.1999G>A (p.Gly667Ser)
c.1981G>A (p.Gly661Ser)
c.1354G>A (p.Gly452Ser)
c.1165G>A (p.Gly389Ser)
c.1495G>A (p.Gly499Ser)
dbSNP gnomAD v3 gnomAD v4
6g.107634786G>CCA365171596SOBPc.1942G>C (p.Gly648Arg)
c.2095G>C (p.Gly699Arg)
c.1999G>C (p.Gly667Arg)
c.1981G>C (p.Gly661Arg)
c.1354G>C (p.Gly452Arg)
c.1165G>C (p.Gly389Arg)
c.1495G>C (p.Gly499Arg)
gnomAD v4
6g.107634786G=CA1653939303SOBPc.1942G= (p.Gly648=)
c.2095G= (p.Gly699=)
c.1999G= (p.Gly667=)
c.1981G= (p.Gly661=)
c.1354G= (p.Gly452=)
c.1165G= (p.Gly389=)
c.1495G= (p.Gly499=)
6g.107634786G>TCA365171597SOBPc.1942G>T (p.Gly648Cys)
c.2095G>T (p.Gly699Cys)
c.1999G>T (p.Gly667Cys)
c.1981G>T (p.Gly661Cys)
c.1354G>T (p.Gly452Cys)
c.1165G>T (p.Gly389Cys)
c.1495G>T (p.Gly499Cys)
gnomAD v4
6g.107634787G>ACA365171600SOBPc.1943G>A (p.Gly648Asp)
c.2096G>A (p.Gly699Asp)
c.2000G>A (p.Gly667Asp)
c.1982G>A (p.Gly661Asp)
c.1355G>A (p.Gly452Asp)
c.1166G>A (p.Gly389Asp)
c.1496G>A (p.Gly499Asp)
dbSNP gnomAD v4
6g.107634787G>CCA365171599SOBPc.1943G>C (p.Gly648Ala)
c.2096G>C (p.Gly699Ala)
c.2000G>C (p.Gly667Ala)
c.1982G>C (p.Gly661Ala)
c.1355G>C (p.Gly452Ala)
c.1166G>C (p.Gly389Ala)
c.1496G>C (p.Gly499Ala)
6g.107634787G=CA1653939304SOBPc.1943G= (p.Gly648=)
c.2096G= (p.Gly699=)
c.2000G= (p.Gly667=)
c.1982G= (p.Gly661=)
c.1355G= (p.Gly452=)
c.1166G= (p.Gly389=)
c.1496G= (p.Gly499=)
6g.107634787G>TCA365171598SOBPc.1943G>T (p.Gly648Val)
c.2096G>T (p.Gly699Val)
c.2000G>T (p.Gly667Val)
c.1982G>T (p.Gly661Val)
c.1355G>T (p.Gly452Val)
c.1166G>T (p.Gly389Val)
c.1496G>T (p.Gly499Val)
gnomAD v4
6g.107634788C>ACA451581800SOBPc.1944C>A (p.Gly648=)
c.2097C>A (p.Gly699=)
c.2001C>A (p.Gly667=)
c.1983C>A (p.Gly661=)
c.1356C>A (p.Gly452=)
c.1167C>A (p.Gly389=)
c.1497C>A (p.Gly499=)
gnomAD v4
6g.107634788C=CA1653939306SOBPc.1944C= (p.Gly648=)
c.2097C= (p.Gly699=)
c.2001C= (p.Gly667=)
c.1983C= (p.Gly661=)
c.1356C= (p.Gly452=)
c.1167C= (p.Gly389=)
c.1497C= (p.Gly499=)
6g.107634788C>GCA451581799SOBPc.1944C>G (p.Gly648=)
c.2097C>G (p.Gly699=)
c.2001C>G (p.Gly667=)
c.1983C>G (p.Gly661=)
c.1356C>G (p.Gly452=)
c.1167C>G (p.Gly389=)
c.1497C>G (p.Gly499=)
gnomAD v4
6g.107634788C>TCA451581798SOBPc.1944C>T (p.Gly648=)
c.2097C>T (p.Gly699=)
c.2001C>T (p.Gly667=)
c.1983C>T (p.Gly661=)
c.1356C>T (p.Gly452=)
c.1167C>T (p.Gly389=)
c.1497C>T (p.Gly499=)
dbSNP gnomAD v4
6g.107634789C>ACA365171601SOBPc.1945C>A (p.Pro649Thr)
c.2098C>A (p.Pro700Thr)
c.2002C>A (p.Pro668Thr)
c.1984C>A (p.Pro662Thr)
c.1357C>A (p.Pro453Thr)
c.1168C>A (p.Pro390Thr)
c.1498C>A (p.Pro500Thr)
gnomAD v4
6g.107634789C>GCA365171602SOBPc.1945C>G (p.Pro649Ala)
c.2098C>G (p.Pro700Ala)
c.2002C>G (p.Pro668Ala)
c.1984C>G (p.Pro662Ala)
c.1357C>G (p.Pro453Ala)
c.1168C>G (p.Pro390Ala)
c.1498C>G (p.Pro500Ala)
gnomAD v4
6g.107634789C>TCA365171603SOBPc.1945C>T (p.Pro649Ser)
c.2098C>T (p.Pro700Ser)
c.2002C>T (p.Pro668Ser)
c.1984C>T (p.Pro662Ser)
c.1357C>T (p.Pro453Ser)
c.1168C>T (p.Pro390Ser)
c.1498C>T (p.Pro500Ser)
gnomAD v4
6g.107634790C>ACA365171604SOBPc.1946C>A (p.Pro649Gln)
c.2099C>A (p.Pro700Gln)
c.2003C>A (p.Pro668Gln)
c.1985C>A (p.Pro662Gln)
c.1358C>A (p.Pro453Gln)
c.1169C>A (p.Pro390Gln)
c.1499C>A (p.Pro500Gln)
gnomAD v4
6g.107634790C=CA1653939308SOBPc.1946C= (p.Pro649=)
c.2099C= (p.Pro700=)
c.2003C= (p.Pro668=)
c.1985C= (p.Pro662=)
c.1358C= (p.Pro453=)
c.1169C= (p.Pro390=)
c.1499C= (p.Pro500=)
6g.107634790C>GCA365171605SOBPc.1946C>G (p.Pro649Arg)
c.2099C>G (p.Pro700Arg)
c.2003C>G (p.Pro668Arg)
c.1985C>G (p.Pro662Arg)
c.1358C>G (p.Pro453Arg)
c.1169C>G (p.Pro390Arg)
c.1499C>G (p.Pro500Arg)
dbSNP
6g.107634790C>TCA365171606SOBPc.1946C>T (p.Pro649Leu)
c.2099C>T (p.Pro700Leu)
c.2003C>T (p.Pro668Leu)
c.1985C>T (p.Pro662Leu)
c.1358C>T (p.Pro453Leu)
c.1169C>T (p.Pro390Leu)
c.1499C>T (p.Pro500Leu)
gnomAD v4
6g.107634791G>ACA3946610SOBPc.1947G>A (p.Pro649=)
c.2100G>A (p.Pro700=)
c.2004G>A (p.Pro668=)
c.1986G>A (p.Pro662=)
c.1359G>A (p.Pro453=)
c.1170G>A (p.Pro390=)
c.1500G>A (p.Pro500=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634791G>CCA451581802SOBPc.1947G>C (p.Pro649=)
c.2100G>C (p.Pro700=)
c.2004G>C (p.Pro668=)
c.1986G>C (p.Pro662=)
c.1359G>C (p.Pro453=)
c.1170G>C (p.Pro390=)
c.1500G>C (p.Pro500=)
gnomAD v4
6g.107634791G=CA1653939309SOBPc.1947G= (p.Pro649=)
c.2100G= (p.Pro700=)
c.2004G= (p.Pro668=)
c.1986G= (p.Pro662=)
c.1359G= (p.Pro453=)
c.1170G= (p.Pro390=)
c.1500G= (p.Pro500=)
6g.107634791G>TCA451581803SOBPc.1947G>T (p.Pro649=)
c.2100G>T (p.Pro700=)
c.2004G>T (p.Pro668=)
c.1986G>T (p.Pro662=)
c.1359G>T (p.Pro453=)
c.1170G>T (p.Pro390=)
c.1500G>T (p.Pro500=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634792C>ACA365171607SOBPc.1948C>A (p.Gln650Lys)
c.2101C>A (p.Gln701Lys)
c.2005C>A (p.Gln669Lys)
c.1987C>A (p.Gln663Lys)
c.1360C>A (p.Gln454Lys)
c.1171C>A (p.Gln391Lys)
c.1501C>A (p.Gln501Lys)
dbSNP gnomAD v2 gnomAD v4
6g.107634792C=CA1653939312SOBPc.1948C= (p.Gln650=)
c.2101C= (p.Gln701=)
c.2005C= (p.Gln669=)
c.1987C= (p.Gln663=)
c.1360C= (p.Gln454=)
c.1171C= (p.Gln391=)
c.1501C= (p.Gln501=)
6g.107634792C>GCA365171608SOBPc.1948C>G (p.Gln650Glu)
c.2101C>G (p.Gln701Glu)
c.2005C>G (p.Gln669Glu)
c.1987C>G (p.Gln663Glu)
c.1360C>G (p.Gln454Glu)
c.1171C>G (p.Gln391Glu)
c.1501C>G (p.Gln501Glu)
6g.107634792C>TCA365171609SOBPc.1948C>T (p.Gln650Ter)
c.2101C>T (p.Gln701Ter)
c.2005C>T (p.Gln669Ter)
c.1987C>T (p.Gln663Ter)
c.1360C>T (p.Gln454Ter)
c.1171C>T (p.Gln391Ter)
c.1501C>T (p.Gln501Ter)
gnomAD v4
6g.107634793A=CA1653939313SOBPc.1949A= (p.Gln650=)
c.2102A= (p.Gln701=)
c.2006A= (p.Gln669=)
c.1988A= (p.Gln663=)
c.1361A= (p.Gln454=)
c.1172A= (p.Gln391=)
c.1502A= (p.Gln501=)
6g.107634793A>CCA365171610SOBPc.1949A>C (p.Gln650Pro)
c.2102A>C (p.Gln701Pro)
c.2006A>C (p.Gln669Pro)
c.1988A>C (p.Gln663Pro)
c.1361A>C (p.Gln454Pro)
c.1172A>C (p.Gln391Pro)
c.1502A>C (p.Gln501Pro)
gnomAD v4
6g.107634793A>GCA365171611SOBPc.1949A>G (p.Gln650Arg)
c.2102A>G (p.Gln701Arg)
c.2006A>G (p.Gln669Arg)
c.1988A>G (p.Gln663Arg)
c.1361A>G (p.Gln454Arg)
c.1172A>G (p.Gln391Arg)
c.1502A>G (p.Gln501Arg)
dbSNP gnomAD v4
6g.107634793A>TCA365171612SOBPc.1949A>T (p.Gln650Leu)
c.2102A>T (p.Gln701Leu)
c.2006A>T (p.Gln669Leu)
c.1988A>T (p.Gln663Leu)
c.1361A>T (p.Gln454Leu)
c.1172A>T (p.Gln391Leu)
c.1502A>T (p.Gln501Leu)
gnomAD v4
6g.107634794G>ACA451581807SOBPc.1950G>A (p.Gln650=)
c.2103G>A (p.Gln701=)
c.2007G>A (p.Gln669=)
c.1989G>A (p.Gln663=)
c.1362G>A (p.Gln454=)
c.1173G>A (p.Gln391=)
c.1503G>A (p.Gln501=)
gnomAD v4
6g.107634794G>CCA365171613SOBPc.1950G>C (p.Gln650His)
c.2103G>C (p.Gln701His)
c.2007G>C (p.Gln669His)
c.1989G>C (p.Gln663His)
c.1362G>C (p.Gln454His)
c.1173G>C (p.Gln391His)
c.1503G>C (p.Gln501His)
6g.107634794G>TCA365171614SOBPc.1950G>T (p.Gln650His)
c.2103G>T (p.Gln701His)
c.2007G>T (p.Gln669His)
c.1989G>T (p.Gln663His)
c.1362G>T (p.Gln454His)
c.1173G>T (p.Gln391His)
c.1503G>T (p.Gln501His)
gnomAD v4
6g.107634795G>ACA365171615SOBPc.1951G>A (p.Asp651Asn)
c.2104G>A (p.Asp702Asn)
c.2008G>A (p.Asp670Asn)
c.1990G>A (p.Asp664Asn)
c.1363G>A (p.Asp455Asn)
c.1174G>A (p.Asp392Asn)
c.1504G>A (p.Asp502Asn)
gnomAD v4
6g.107634795G>CCA365171616SOBPc.1951G>C (p.Asp651His)
c.2104G>C (p.Asp702His)
c.2008G>C (p.Asp670His)
c.1990G>C (p.Asp664His)
c.1363G>C (p.Asp455His)
c.1174G>C (p.Asp392His)
c.1504G>C (p.Asp502His)
6g.107634795G>TCA365171617SOBPc.1951G>T (p.Asp651Tyr)
c.2104G>T (p.Asp702Tyr)
c.2008G>T (p.Asp670Tyr)
c.1990G>T (p.Asp664Tyr)
c.1363G>T (p.Asp455Tyr)
c.1174G>T (p.Asp392Tyr)
c.1504G>T (p.Asp502Tyr)
gnomAD v4
6g.107634796A>CCA365171618SOBPc.1952A>C (p.Asp651Ala)
c.2105A>C (p.Asp702Ala)
c.2009A>C (p.Asp670Ala)
c.1991A>C (p.Asp664Ala)
c.1364A>C (p.Asp455Ala)
c.1175A>C (p.Asp392Ala)
c.1505A>C (p.Asp502Ala)
6g.107634796A>GCA365171619SOBPc.1952A>G (p.Asp651Gly)
c.2105A>G (p.Asp702Gly)
c.2009A>G (p.Asp670Gly)
c.1991A>G (p.Asp664Gly)
c.1364A>G (p.Asp455Gly)
c.1175A>G (p.Asp392Gly)
c.1505A>G (p.Asp502Gly)
gnomAD v4
6g.107634796A>TCA365171620SOBPc.1952A>T (p.Asp651Val)
c.2105A>T (p.Asp702Val)
c.2009A>T (p.Asp670Val)
c.1991A>T (p.Asp664Val)
c.1364A>T (p.Asp455Val)
c.1175A>T (p.Asp392Val)
c.1505A>T (p.Asp502Val)
6g.107634797C>ACA365171621SOBPc.1953C>A (p.Asp651Glu)
c.2106C>A (p.Asp702Glu)
c.2010C>A (p.Asp670Glu)
c.1992C>A (p.Asp664Glu)
c.1365C>A (p.Asp455Glu)
c.1176C>A (p.Asp392Glu)
c.1506C>A (p.Asp502Glu)
dbSNP gnomAD v4
6g.107634797C=CA1653939315SOBPc.1953C= (p.Asp651=)
c.2106C= (p.Asp702=)
c.2010C= (p.Asp670=)
c.1992C= (p.Asp664=)
c.1365C= (p.Asp455=)
c.1176C= (p.Asp392=)
c.1506C= (p.Asp502=)
6g.107634797C>GCA365171622SOBPc.1953C>G (p.Asp651Glu)
c.2106C>G (p.Asp702Glu)
c.2010C>G (p.Asp670Glu)
c.1992C>G (p.Asp664Glu)
c.1365C>G (p.Asp455Glu)
c.1176C>G (p.Asp392Glu)
c.1506C>G (p.Asp502Glu)
dbSNP gnomAD v3 gnomAD v4
6g.107634797C>TCA451581812SOBPc.1953C>T (p.Asp651=)
c.2106C>T (p.Asp702=)
c.2010C>T (p.Asp670=)
c.1992C>T (p.Asp664=)
c.1365C>T (p.Asp455=)
c.1176C>T (p.Asp392=)
c.1506C>T (p.Asp502=)
dbSNP gnomAD v3 gnomAD v4
6g.107634798G>ACA365171623SOBPc.1954G>A (p.Gly652Ser)
c.2107G>A (p.Gly703Ser)
c.2011G>A (p.Gly671Ser)
c.1993G>A (p.Gly665Ser)
c.1366G>A (p.Gly456Ser)
c.1177G>A (p.Gly393Ser)
c.1507G>A (p.Gly503Ser)
dbSNP gnomAD v2 gnomAD v4
6g.107634798G>CCA365171624SOBPc.1954G>C (p.Gly652Arg)
c.2107G>C (p.Gly703Arg)
c.2011G>C (p.Gly671Arg)
c.1993G>C (p.Gly665Arg)
c.1366G>C (p.Gly456Arg)
c.1177G>C (p.Gly393Arg)
c.1507G>C (p.Gly503Arg)
gnomAD v4
6g.107634798G=CA1653939317SOBPc.1954G= (p.Gly652=)
c.2107G= (p.Gly703=)
c.2011G= (p.Gly671=)
c.1993G= (p.Gly665=)
c.1366G= (p.Gly456=)
c.1177G= (p.Gly393=)
c.1507G= (p.Gly503=)
6g.107634798G>TCA365171625SOBPc.1954G>T (p.Gly652Cys)
c.2107G>T (p.Gly703Cys)
c.2011G>T (p.Gly671Cys)
c.1993G>T (p.Gly665Cys)
c.1366G>T (p.Gly456Cys)
c.1177G>T (p.Gly393Cys)
c.1507G>T (p.Gly503Cys)
gnomAD v4
6g.107634799G>ACA365171628SOBPc.1955G>A (p.Gly652Asp)
c.2108G>A (p.Gly703Asp)
c.2012G>A (p.Gly671Asp)
c.1994G>A (p.Gly665Asp)
c.1367G>A (p.Gly456Asp)
c.1178G>A (p.Gly393Asp)
c.1508G>A (p.Gly503Asp)
gnomAD v4
6g.107634799G>CCA365171627SOBPc.1955G>C (p.Gly652Ala)
c.2108G>C (p.Gly703Ala)
c.2012G>C (p.Gly671Ala)
c.1994G>C (p.Gly665Ala)
c.1367G>C (p.Gly456Ala)
c.1178G>C (p.Gly393Ala)
c.1508G>C (p.Gly503Ala)
6g.107634799G>TCA365171626SOBPc.1955G>T (p.Gly652Val)
c.2108G>T (p.Gly703Val)
c.2012G>T (p.Gly671Val)
c.1994G>T (p.Gly665Val)
c.1367G>T (p.Gly456Val)
c.1178G>T (p.Gly393Val)
c.1508G>T (p.Gly503Val)
gnomAD v4
6g.107634800C>ACA451581815SOBPc.1956C>A (p.Gly652=)
c.2109C>A (p.Gly703=)
c.2013C>A (p.Gly671=)
c.1995C>A (p.Gly665=)
c.1368C>A (p.Gly456=)
c.1179C>A (p.Gly393=)
c.1509C>A (p.Gly503=)
gnomAD v4
6g.107634800C=CA1653939319SOBPc.1956C= (p.Gly652=)
c.2109C= (p.Gly703=)
c.2013C= (p.Gly671=)
c.1995C= (p.Gly665=)
c.1368C= (p.Gly456=)
c.1179C= (p.Gly393=)
c.1509C= (p.Gly503=)
6g.107634800C>GCA451581816SOBPc.1956C>G (p.Gly652=)
c.2109C>G (p.Gly703=)
c.2013C>G (p.Gly671=)
c.1995C>G (p.Gly665=)
c.1368C>G (p.Gly456=)
c.1179C>G (p.Gly393=)
c.1509C>G (p.Gly503=)
gnomAD v4
6g.107634800C>TCA451581819SOBPc.1956C>T (p.Gly652=)
c.2109C>T (p.Gly703=)
c.2013C>T (p.Gly671=)
c.1995C>T (p.Gly665=)
c.1368C>T (p.Gly456=)
c.1179C>T (p.Gly393=)
c.1509C>T (p.Gly503=)
dbSNP gnomAD v4
6g.107634801G>ACA365171629SOBPc.1957G>A (p.Val653Ile)
c.2110G>A (p.Val704Ile)
c.2014G>A (p.Val672Ile)
c.1996G>A (p.Val666Ile)
c.1369G>A (p.Val457Ile)
c.1180G>A (p.Val394Ile)
c.1510G>A (p.Val504Ile)
dbSNP gnomAD v4
6g.107634801G>CCA365171630SOBPc.1957G>C (p.Val653Leu)
c.2110G>C (p.Val704Leu)
c.2014G>C (p.Val672Leu)
c.1996G>C (p.Val666Leu)
c.1369G>C (p.Val457Leu)
c.1180G>C (p.Val394Leu)
c.1510G>C (p.Val504Leu)
gnomAD v4
6g.107634801G=CA1653939321SOBPc.1957G= (p.Val653=)
c.2110G= (p.Val704=)
c.2014G= (p.Val672=)
c.1996G= (p.Val666=)
c.1369G= (p.Val457=)
c.1180G= (p.Val394=)
c.1510G= (p.Val504=)
6g.107634801G>TCA365171631SOBPc.1957G>T (p.Val653Phe)
c.2110G>T (p.Val704Phe)
c.2014G>T (p.Val672Phe)
c.1996G>T (p.Val666Phe)
c.1369G>T (p.Val457Phe)
c.1180G>T (p.Val394Phe)
c.1510G>T (p.Val504Phe)
gnomAD v4
6g.107634801_107634802delCA2679876761SOBPc.1957_1958del (p.Val653HisfsTer?)
c.2110_2111del (p.Val704HisfsTer?)
c.2014_2015del (p.Val672HisfsTer?)
c.1996_1997del (p.Val666HisfsTer?)
c.1369_1370del (p.Val457HisfsTer?)
c.1180_1181del (p.Val394HisfsTer?)
c.1510_1511del (p.Val504HisfsTer?)
gnomAD v4
6g.107634802T>ACA365171632SOBPc.1958T>A (p.Val653Asp)
c.2111T>A (p.Val704Asp)
c.2015T>A (p.Val672Asp)
c.1997T>A (p.Val666Asp)
c.1370T>A (p.Val457Asp)
c.1181T>A (p.Val394Asp)
c.1511T>A (p.Val504Asp)
gnomAD v4
6g.107634802T>CCA365171633SOBPc.1958T>C (p.Val653Ala)
c.2111T>C (p.Val704Ala)
c.2015T>C (p.Val672Ala)
c.1997T>C (p.Val666Ala)
c.1370T>C (p.Val457Ala)
c.1181T>C (p.Val394Ala)
c.1511T>C (p.Val504Ala)
dbSNP gnomAD v4
6g.107634802T>GCA365171634SOBPc.1958T>G (p.Val653Gly)
c.2111T>G (p.Val704Gly)
c.2015T>G (p.Val672Gly)
c.1997T>G (p.Val666Gly)
c.1370T>G (p.Val457Gly)
c.1181T>G (p.Val394Gly)
c.1511T>G (p.Val504Gly)
6g.107634802T=CA1653939323SOBPc.1958T= (p.Val653=)
c.2111T= (p.Val704=)
c.2015T= (p.Val672=)
c.1997T= (p.Val666=)
c.1370T= (p.Val457=)
c.1181T= (p.Val394=)
c.1511T= (p.Val504=)
6g.107634803C>ACA451581822SOBPc.1959C>A (p.Val653=)
c.2112C>A (p.Val704=)
c.2016C>A (p.Val672=)
c.1998C>A (p.Val666=)
c.1371C>A (p.Val457=)
c.1182C>A (p.Val394=)
c.1512C>A (p.Val504=)
dbSNP gnomAD v2 gnomAD v4
6g.107634803C=CA1653939325SOBPc.1959C= (p.Val653=)
c.2112C= (p.Val704=)
c.2016C= (p.Val672=)
c.1998C= (p.Val666=)
c.1371C= (p.Val457=)
c.1182C= (p.Val394=)
c.1512C= (p.Val504=)
6g.107634803C>GCA451581823SOBPc.1959C>G (p.Val653=)
c.2112C>G (p.Val704=)
c.2016C>G (p.Val672=)
c.1998C>G (p.Val666=)
c.1371C>G (p.Val457=)
c.1182C>G (p.Val394=)
c.1512C>G (p.Val504=)
6g.107634803C>TCA451581824SOBPc.1959C>T (p.Val653=)
c.2112C>T (p.Val704=)
c.2016C>T (p.Val672=)
c.1998C>T (p.Val666=)
c.1371C>T (p.Val457=)
c.1182C>T (p.Val394=)
c.1512C>T (p.Val504=)
gnomAD v4
6g.107634804A=CA1653939327SOBPc.1960A= (p.Ile654=)
c.2113A= (p.Ile705=)
c.2017A= (p.Ile673=)
c.1999A= (p.Ile667=)
c.1372A= (p.Ile458=)
c.1183A= (p.Ile395=)
c.1513A= (p.Ile505=)
6g.107634804A>CCA365171635SOBPc.1960A>C (p.Ile654Leu)
c.2113A>C (p.Ile705Leu)
c.2017A>C (p.Ile673Leu)
c.1999A>C (p.Ile667Leu)
c.1372A>C (p.Ile458Leu)
c.1183A>C (p.Ile395Leu)
c.1513A>C (p.Ile505Leu)
6g.107634804A>GCA365171636SOBPc.1960A>G (p.Ile654Val)
c.2113A>G (p.Ile705Val)
c.2017A>G (p.Ile673Val)
c.1999A>G (p.Ile667Val)
c.1372A>G (p.Ile458Val)
c.1183A>G (p.Ile395Val)
c.1513A>G (p.Ile505Val)
dbSNP gnomAD v3 gnomAD v4
6g.107634804A>TCA3946611SOBPc.1960A>T (p.Ile654Phe)
c.2113A>T (p.Ile705Phe)
c.2017A>T (p.Ile673Phe)
c.1999A>T (p.Ile667Phe)
c.1372A>T (p.Ile458Phe)
c.1183A>T (p.Ile395Phe)
c.1513A>T (p.Ile505Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634805T>ACA365171637SOBPc.1961T>A (p.Ile654Asn)
c.2114T>A (p.Ile705Asn)
c.2018T>A (p.Ile673Asn)
c.2000T>A (p.Ile667Asn)
c.1373T>A (p.Ile458Asn)
c.1184T>A (p.Ile395Asn)
c.1514T>A (p.Ile505Asn)
6g.107634805T>CCA365171638SOBPc.1961T>C (p.Ile654Thr)
c.2114T>C (p.Ile705Thr)
c.2018T>C (p.Ile673Thr)
c.2000T>C (p.Ile667Thr)
c.1373T>C (p.Ile458Thr)
c.1184T>C (p.Ile395Thr)
c.1514T>C (p.Ile505Thr)
gnomAD v4
6g.107634805T>GCA365171639SOBPc.1961T>G (p.Ile654Ser)
c.2114T>G (p.Ile705Ser)
c.2018T>G (p.Ile673Ser)
c.2000T>G (p.Ile667Ser)
c.1373T>G (p.Ile458Ser)
c.1184T>G (p.Ile395Ser)
c.1514T>G (p.Ile505Ser)
6g.107634806C>ACA451581831SOBPc.1962C>A (p.Ile654=)
c.2115C>A (p.Ile705=)
c.2019C>A (p.Ile673=)
c.2001C>A (p.Ile667=)
c.1374C>A (p.Ile458=)
c.1185C>A (p.Ile395=)
c.1515C>A (p.Ile505=)
gnomAD v4
6g.107634806C>GCA365171640SOBPc.1962C>G (p.Ile654Met)
c.2115C>G (p.Ile705Met)
c.2019C>G (p.Ile673Met)
c.2001C>G (p.Ile667Met)
c.1374C>G (p.Ile458Met)
c.1185C>G (p.Ile395Met)
c.1515C>G (p.Ile505Met)
gnomAD v4
6g.107634806C>TCA451581832SOBPc.1962C>T (p.Ile654=)
c.2115C>T (p.Ile705=)
c.2019C>T (p.Ile673=)
c.2001C>T (p.Ile667=)
c.1374C>T (p.Ile458=)
c.1185C>T (p.Ile395=)
c.1515C>T (p.Ile505=)
dbSNP gnomAD v4
6g.107634807G>ACA365171642SOBPc.1963G>A (p.Asp655Asn)
c.2116G>A (p.Asp706Asn)
c.2020G>A (p.Asp674Asn)
c.2002G>A (p.Asp668Asn)
c.1375G>A (p.Asp459Asn)
c.1186G>A (p.Asp396Asn)
c.1516G>A (p.Asp506Asn)
gnomAD v4
6g.107634807G>CCA365171643SOBPc.1963G>C (p.Asp655His)
c.2116G>C (p.Asp706His)
c.2020G>C (p.Asp674His)
c.2002G>C (p.Asp668His)
c.1375G>C (p.Asp459His)
c.1186G>C (p.Asp396His)
c.1516G>C (p.Asp506His)
gnomAD v4
6g.107634807G>TCA365171641SOBPc.1963G>T (p.Asp655Tyr)
c.2116G>T (p.Asp706Tyr)
c.2020G>T (p.Asp674Tyr)
c.2002G>T (p.Asp668Tyr)
c.1375G>T (p.Asp459Tyr)
c.1186G>T (p.Asp396Tyr)
c.1516G>T (p.Asp506Tyr)
gnomAD v4
6g.107634808A>CCA365171646SOBPc.1964A>C (p.Asp655Ala)
c.2117A>C (p.Asp706Ala)
c.2021A>C (p.Asp674Ala)
c.2003A>C (p.Asp668Ala)
c.1376A>C (p.Asp459Ala)
c.1187A>C (p.Asp396Ala)
c.1517A>C (p.Asp506Ala)
6g.107634808A>GCA365171644SOBPc.1964A>G (p.Asp655Gly)
c.2117A>G (p.Asp706Gly)
c.2021A>G (p.Asp674Gly)
c.2003A>G (p.Asp668Gly)
c.1376A>G (p.Asp459Gly)
c.1187A>G (p.Asp396Gly)
c.1517A>G (p.Asp506Gly)
gnomAD v4
6g.107634808A>TCA365171645SOBPc.1964A>T (p.Asp655Val)
c.2117A>T (p.Asp706Val)
c.2021A>T (p.Asp674Val)
c.2003A>T (p.Asp668Val)
c.1376A>T (p.Asp459Val)
c.1187A>T (p.Asp396Val)
c.1517A>T (p.Asp506Val)
gnomAD v4
6g.107634809C>ACA365171647SOBPc.1965C>A (p.Asp655Glu)
c.2118C>A (p.Asp706Glu)
c.2022C>A (p.Asp674Glu)
c.2004C>A (p.Asp668Glu)
c.1377C>A (p.Asp459Glu)
c.1188C>A (p.Asp396Glu)
c.1518C>A (p.Asp506Glu)
gnomAD v4
6g.107634809C>GCA365171648SOBPc.1965C>G (p.Asp655Glu)
c.2118C>G (p.Asp706Glu)
c.2022C>G (p.Asp674Glu)
c.2004C>G (p.Asp668Glu)
c.1377C>G (p.Asp459Glu)
c.1188C>G (p.Asp396Glu)
c.1518C>G (p.Asp506Glu)
gnomAD v4
6g.107634809C>TCA451581835SOBPc.1965C>T (p.Asp655=)
c.2118C>T (p.Asp706=)
c.2022C>T (p.Asp674=)
c.2004C>T (p.Asp668=)
c.1377C>T (p.Asp459=)
c.1188C>T (p.Asp396=)
c.1518C>T (p.Asp506=)
gnomAD v4
6g.107634810C>ACA365171649SOBPc.1966C>A (p.Leu656Met)
c.2119C>A (p.Leu707Met)
c.2023C>A (p.Leu675Met)
c.2005C>A (p.Leu669Met)
c.1378C>A (p.Leu460Met)
c.1189C>A (p.Leu397Met)
c.1519C>A (p.Leu507Met)
dbSNP gnomAD v2 gnomAD v4
6g.107634810C=CA1653939329SOBPc.1966C= (p.Leu656=)
c.2119C= (p.Leu707=)
c.2023C= (p.Leu675=)
c.2005C= (p.Leu669=)
c.1378C= (p.Leu460=)
c.1189C= (p.Leu397=)
c.1519C= (p.Leu507=)
6g.107634810C>GCA365171650SOBPc.1966C>G (p.Leu656Val)
c.2119C>G (p.Leu707Val)
c.2023C>G (p.Leu675Val)
c.2005C>G (p.Leu669Val)
c.1378C>G (p.Leu460Val)
c.1189C>G (p.Leu397Val)
c.1519C>G (p.Leu507Val)
gnomAD v4
6g.107634810C>TCA451581838SOBPc.1966C>T (p.Leu656=)
c.2119C>T (p.Leu707=)
c.2023C>T (p.Leu675=)
c.2005C>T (p.Leu669=)
c.1378C>T (p.Leu460=)
c.1189C>T (p.Leu397=)
c.1519C>T (p.Leu507=)
gnomAD v4
6g.107634811T>ACA365171651SOBPc.1967T>A (p.Leu656Gln)
c.2120T>A (p.Leu707Gln)
c.2024T>A (p.Leu675Gln)
c.2006T>A (p.Leu669Gln)
c.1379T>A (p.Leu460Gln)
c.1190T>A (p.Leu397Gln)
c.1520T>A (p.Leu507Gln)
gnomAD v4
6g.107634811T>CCA365171652SOBPc.1967T>C (p.Leu656Pro)
c.2120T>C (p.Leu707Pro)
c.2024T>C (p.Leu675Pro)
c.2006T>C (p.Leu669Pro)
c.1379T>C (p.Leu460Pro)
c.1190T>C (p.Leu397Pro)
c.1520T>C (p.Leu507Pro)
gnomAD v4
6g.107634811T>GCA365171653SOBPc.1967T>G (p.Leu656Arg)
c.2120T>G (p.Leu707Arg)
c.2024T>G (p.Leu675Arg)
c.2006T>G (p.Leu669Arg)
c.1379T>G (p.Leu460Arg)
c.1190T>G (p.Leu397Arg)
c.1520T>G (p.Leu507Arg)
6g.107634812G>ACA451581839SOBPc.1968G>A (p.Leu656=)
c.2121G>A (p.Leu707=)
c.2025G>A (p.Leu675=)
c.2007G>A (p.Leu669=)
c.1380G>A (p.Leu460=)
c.1191G>A (p.Leu397=)
c.1521G>A (p.Leu507=)
gnomAD v4
6g.107634812G>CCA451581840SOBPc.1968G>C (p.Leu656=)
c.2121G>C (p.Leu707=)
c.2025G>C (p.Leu675=)
c.2007G>C (p.Leu669=)
c.1380G>C (p.Leu460=)
c.1191G>C (p.Leu397=)
c.1521G>C (p.Leu507=)
gnomAD v4
6g.107634812G>TCA451581841SOBPc.1968G>T (p.Leu656=)
c.2121G>T (p.Leu707=)
c.2025G>T (p.Leu675=)
c.2007G>T (p.Leu669=)
c.1380G>T (p.Leu460=)
c.1191G>T (p.Leu397=)
c.1521G>T (p.Leu507=)
gnomAD v4
6g.107634814_107634815insAGGACCA2679876762SOBPc.1970_1971insAGGAC (p.Val658GlyfsTer12)
c.2123_2124insAGGAC (p.Val709GlyfsTer12)
c.2027_2028insAGGAC (p.Val677GlyfsTer12)
c.2009_2010insAGGAC (p.Val671GlyfsTer12)
c.1382_1383insAGGAC (p.Val462GlyfsTer12)
c.1193_1194insAGGAC (p.Val399GlyfsTer12)
c.1523_1524insAGGAC (p.Val509GlyfsTer12)
gnomAD v4
6g.107634813A=CA1653939332SOBPc.1969A= (p.Thr657=)
c.2122A= (p.Thr708=)
c.2026A= (p.Thr676=)
c.2008A= (p.Thr670=)
c.1381A= (p.Thr461=)
c.1192A= (p.Thr398=)
c.1522A= (p.Thr508=)
6g.107634813A>CCA365171654SOBPc.1969A>C (p.Thr657Pro)
c.2122A>C (p.Thr708Pro)
c.2026A>C (p.Thr676Pro)
c.2008A>C (p.Thr670Pro)
c.1381A>C (p.Thr461Pro)
c.1192A>C (p.Thr398Pro)
c.1522A>C (p.Thr508Pro)
gnomAD v4
6g.107634813A>GCA365171655SOBPc.1969A>G (p.Thr657Ala)
c.2122A>G (p.Thr708Ala)
c.2026A>G (p.Thr676Ala)
c.2008A>G (p.Thr670Ala)
c.1381A>G (p.Thr461Ala)
c.1192A>G (p.Thr398Ala)
c.1522A>G (p.Thr508Ala)
dbSNP gnomAD v3 gnomAD v4
6g.107634813A>TCA365171656SOBPc.1969A>T (p.Thr657Ser)
c.2122A>T (p.Thr708Ser)
c.2026A>T (p.Thr676Ser)
c.2008A>T (p.Thr670Ser)
c.1381A>T (p.Thr461Ser)
c.1192A>T (p.Thr398Ser)
c.1522A>T (p.Thr508Ser)
6g.107634813_107634814delinsACCA1653939331SOBPc.1969_1970delinsAC (p.Thr657=)
c.2122_2123delinsAC (p.Thr708=)
c.2026_2027delinsAC (p.Thr676=)
c.2008_2009delinsAC (p.Thr670=)
c.1381_1382delinsAC (p.Thr461=)
c.1192_1193delinsAC (p.Thr398=)
c.1522_1523delinsAC (p.Thr508=)
6g.107634814C>ACA365171659SOBPc.1970C>A (p.Thr657Asn)
c.2123C>A (p.Thr708Asn)
c.2027C>A (p.Thr676Asn)
c.2009C>A (p.Thr670Asn)
c.1382C>A (p.Thr461Asn)
c.1193C>A (p.Thr398Asn)
c.1523C>A (p.Thr508Asn)
gnomAD v4
6g.107634814C=CA1653939335SOBPc.1970C= (p.Thr657=)
c.2123C= (p.Thr708=)
c.2027C= (p.Thr676=)
c.2009C= (p.Thr670=)
c.1382C= (p.Thr461=)
c.1193C= (p.Thr398=)
c.1523C= (p.Thr508=)
6g.107634814C>GCA365171657SOBPc.1970C>G (p.Thr657Ser)
c.2123C>G (p.Thr708Ser)
c.2027C>G (p.Thr676Ser)
c.2009C>G (p.Thr670Ser)
c.1382C>G (p.Thr461Ser)
c.1193C>G (p.Thr398Ser)
c.1523C>G (p.Thr508Ser)
ClinVar dbSNP gnomAD v4
6g.107634814C>TCA365171658SOBPc.1970C>T (p.Thr657Ile)
c.2123C>T (p.Thr708Ile)
c.2027C>T (p.Thr676Ile)
c.2009C>T (p.Thr670Ile)
c.1382C>T (p.Thr461Ile)
c.1193C>T (p.Thr398Ile)
c.1523C>T (p.Thr508Ile)
gnomAD v4
6g.107634815delCA569564389SOBPc.1971del (p.Val658TrpfsTer10)
c.2124del (p.Val709TrpfsTer10)
c.2028del (p.Val677TrpfsTer10)
c.2010del (p.Val671TrpfsTer10)
c.1383del (p.Val462TrpfsTer10)
c.1194del (p.Val399TrpfsTer10)
c.1524del (p.Val509TrpfsTer10)
dbSNP gnomAD v2
6g.107634815C>ACA451581846SOBPc.1971C>A (p.Thr657=)
c.2124C>A (p.Thr708=)
c.2028C>A (p.Thr676=)
c.2010C>A (p.Thr670=)
c.1383C>A (p.Thr461=)
c.1194C>A (p.Thr398=)
c.1524C>A (p.Thr508=)
dbSNP gnomAD v3 gnomAD v4
6g.107634815C=CA1653939337SOBPc.1971C= (p.Thr657=)
c.2124C= (p.Thr708=)
c.2028C= (p.Thr676=)
c.2010C= (p.Thr670=)
c.1383C= (p.Thr461=)
c.1194C= (p.Thr398=)
c.1524C= (p.Thr508=)
6g.107634815C>GCA451581847SOBPc.1971C>G (p.Thr657=)
c.2124C>G (p.Thr708=)
c.2028C>G (p.Thr676=)
c.2010C>G (p.Thr670=)
c.1383C>G (p.Thr461=)
c.1194C>G (p.Thr398=)
c.1524C>G (p.Thr508=)
gnomAD v4
6g.107634815C>TCA451581848SOBPc.1971C>T (p.Thr657=)
c.2124C>T (p.Thr708=)
c.2028C>T (p.Thr676=)
c.2010C>T (p.Thr670=)
c.1383C>T (p.Thr461=)
c.1194C>T (p.Thr398=)
c.1524C>T (p.Thr508=)
gnomAD v4
6g.107634816G>ACA365171660SOBPc.1972G>A (p.Val658Met)
c.2125G>A (p.Val709Met)
c.2029G>A (p.Val677Met)
c.2011G>A (p.Val671Met)
c.1384G>A (p.Val462Met)
c.1195G>A (p.Val399Met)
c.1525G>A (p.Val509Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634816G>CCA365171661SOBPc.1972G>C (p.Val658Leu)
c.2125G>C (p.Val709Leu)
c.2029G>C (p.Val677Leu)
c.2011G>C (p.Val671Leu)
c.1384G>C (p.Val462Leu)
c.1195G>C (p.Val399Leu)
c.1525G>C (p.Val509Leu)
dbSNP gnomAD v4
6g.107634816G=CA1653939338SOBPc.1972G= (p.Val658=)
c.2125G= (p.Val709=)
c.2029G= (p.Val677=)
c.2011G= (p.Val671=)
c.1384G= (p.Val462=)
c.1195G= (p.Val399=)
c.1525G= (p.Val509=)
6g.107634816G>TCA365171662SOBPc.1972G>T (p.Val658Leu)
c.2125G>T (p.Val709Leu)
c.2029G>T (p.Val677Leu)
c.2011G>T (p.Val671Leu)
c.1384G>T (p.Val462Leu)
c.1195G>T (p.Val399Leu)
c.1525G>T (p.Val509Leu)
gnomAD v4
6g.107634817T>ACA365171663SOBPc.1973T>A (p.Val658Glu)
c.2126T>A (p.Val709Glu)
c.2030T>A (p.Val677Glu)
c.2012T>A (p.Val671Glu)
c.1385T>A (p.Val462Glu)
c.1196T>A (p.Val399Glu)
c.1526T>A (p.Val509Glu)
gnomAD v4
6g.107634817T>CCA365171664SOBPc.1973T>C (p.Val658Ala)
c.2126T>C (p.Val709Ala)
c.2030T>C (p.Val677Ala)
c.2012T>C (p.Val671Ala)
c.1385T>C (p.Val462Ala)
c.1196T>C (p.Val399Ala)
c.1526T>C (p.Val509Ala)
gnomAD v4
6g.107634817T>GCA365171665SOBPc.1973T>G (p.Val658Gly)
c.2126T>G (p.Val709Gly)
c.2030T>G (p.Val677Gly)
c.2012T>G (p.Val671Gly)
c.1385T>G (p.Val462Gly)
c.1196T>G (p.Val399Gly)
c.1526T>G (p.Val509Gly)
6g.107634818G>ACA451581851SOBPc.1974G>A (p.Val658=)
c.2127G>A (p.Val709=)
c.2031G>A (p.Val677=)
c.2013G>A (p.Val671=)
c.1386G>A (p.Val462=)
c.1197G>A (p.Val399=)
c.1527G>A (p.Val509=)
dbSNP gnomAD v2 gnomAD v4
6g.107634818G>CCA451581853SOBPc.1974G>C (p.Val658=)
c.2127G>C (p.Val709=)
c.2031G>C (p.Val677=)
c.2013G>C (p.Val671=)
c.1386G>C (p.Val462=)
c.1197G>C (p.Val399=)
c.1527G>C (p.Val509=)
6g.107634818G=CA1653939340SOBPc.1974G= (p.Val658=)
c.2127G= (p.Val709=)
c.2031G= (p.Val677=)
c.2013G= (p.Val671=)
c.1386G= (p.Val462=)
c.1197G= (p.Val399=)
c.1527G= (p.Val509=)
6g.107634818G>TCA451581854SOBPc.1974G>T (p.Val658=)
c.2127G>T (p.Val709=)
c.2031G>T (p.Val677=)
c.2013G>T (p.Val671=)
c.1386G>T (p.Val462=)
c.1197G>T (p.Val399=)
c.1527G>T (p.Val509=)
gnomAD v4
6g.107634820delCA2679876763SOBPc.1976del (p.Gly659AlafsTer9)
c.2129del (p.Gly710AlafsTer9)
c.2033del (p.Gly678AlafsTer9)
c.2015del (p.Gly672AlafsTer9)
c.1388del (p.Gly463AlafsTer9)
c.1199del (p.Gly400AlafsTer9)
c.1529del (p.Gly510AlafsTer9)
gnomAD v4
6g.107634819G>ACA365171666SOBPc.1975G>A (p.Gly659Ser)
c.2128G>A (p.Gly710Ser)
c.2032G>A (p.Gly678Ser)
c.2014G>A (p.Gly672Ser)
c.1387G>A (p.Gly463Ser)
c.1198G>A (p.Gly400Ser)
c.1528G>A (p.Gly510Ser)
gnomAD v4
6g.107634819G>CCA365171667SOBPc.1975G>C (p.Gly659Arg)
c.2128G>C (p.Gly710Arg)
c.2032G>C (p.Gly678Arg)
c.2014G>C (p.Gly672Arg)
c.1387G>C (p.Gly463Arg)
c.1198G>C (p.Gly400Arg)
c.1528G>C (p.Gly510Arg)
6g.107634819G>TCA365171668SOBPc.1975G>T (p.Gly659Cys)
c.2128G>T (p.Gly710Cys)
c.2032G>T (p.Gly678Cys)
c.2014G>T (p.Gly672Cys)
c.1387G>T (p.Gly463Cys)
c.1198G>T (p.Gly400Cys)
c.1528G>T (p.Gly510Cys)
gnomAD v4
6g.107634820G>ACA365171669SOBPc.1976G>A (p.Gly659Asp)
c.2129G>A (p.Gly710Asp)
c.2033G>A (p.Gly678Asp)
c.2015G>A (p.Gly672Asp)
c.1388G>A (p.Gly463Asp)
c.1199G>A (p.Gly400Asp)
c.1529G>A (p.Gly510Asp)
gnomAD v4
6g.107634820G>CCA365171670SOBPc.1976G>C (p.Gly659Ala)
c.2129G>C (p.Gly710Ala)
c.2033G>C (p.Gly678Ala)
c.2015G>C (p.Gly672Ala)
c.1388G>C (p.Gly463Ala)
c.1199G>C (p.Gly400Ala)
c.1529G>C (p.Gly510Ala)
gnomAD v4
6g.107634820G>TCA365171671SOBPc.1976G>T (p.Gly659Val)
c.2129G>T (p.Gly710Val)
c.2033G>T (p.Gly678Val)
c.2015G>T (p.Gly672Val)
c.1388G>T (p.Gly463Val)
c.1199G>T (p.Gly400Val)
c.1529G>T (p.Gly510Val)
gnomAD v4
6g.107634821C>ACA451581855SOBPc.1977C>A (p.Gly659=)
c.2130C>A (p.Gly710=)
c.2034C>A (p.Gly678=)
c.2016C>A (p.Gly672=)
c.1389C>A (p.Gly463=)
c.1200C>A (p.Gly400=)
c.1530C>A (p.Gly510=)
gnomAD v4
6g.107634821C>GCA451581856SOBPc.1977C>G (p.Gly659=)
c.2130C>G (p.Gly710=)
c.2034C>G (p.Gly678=)
c.2016C>G (p.Gly672=)
c.1389C>G (p.Gly463=)
c.1200C>G (p.Gly400=)
c.1530C>G (p.Gly510=)
gnomAD v4
6g.107634821C>TCA451581858SOBPc.1977C>T (p.Gly659=)
c.2130C>T (p.Gly710=)
c.2034C>T (p.Gly678=)
c.2016C>T (p.Gly672=)
c.1389C>T (p.Gly463=)
c.1200C>T (p.Gly400=)
c.1530C>T (p.Gly510=)
gnomAD v4
6g.107634822delCA2772523109SOBPc.1978del (p.His660ThrfsTer8)
c.2131del (p.His711ThrfsTer8)
c.2035del (p.His679ThrfsTer8)
c.2017del (p.His673ThrfsTer8)
c.1390del (p.His464ThrfsTer8)
c.1201del (p.His401ThrfsTer8)
c.1531del (p.His511ThrfsTer8)
6g.107634822C>ACA365171673SOBPc.1978C>A (p.His660Asn)
c.2131C>A (p.His711Asn)
c.2035C>A (p.His679Asn)
c.2017C>A (p.His673Asn)
c.1390C>A (p.His464Asn)
c.1201C>A (p.His401Asn)
c.1531C>A (p.His511Asn)
gnomAD v4
6g.107634822C>GCA365171674SOBPc.1978C>G (p.His660Asp)
c.2131C>G (p.His711Asp)
c.2035C>G (p.His679Asp)
c.2017C>G (p.His673Asp)
c.1390C>G (p.His464Asp)
c.1201C>G (p.His401Asp)
c.1531C>G (p.His511Asp)
6g.107634822C>TCA365171672SOBPc.1978C>T (p.His660Tyr)
c.2131C>T (p.His711Tyr)
c.2035C>T (p.His679Tyr)
c.2017C>T (p.His673Tyr)
c.1390C>T (p.His464Tyr)
c.1201C>T (p.His401Tyr)
c.1531C>T (p.His511Tyr)
gnomAD v4
6g.107634823A=CA1653939341SOBPc.1979A= (p.His660=)
c.2132A= (p.His711=)
c.2036A= (p.His679=)
c.2018A= (p.His673=)
c.1391A= (p.His464=)
c.1202A= (p.His401=)
c.1532A= (p.His511=)
6g.107634823A>CCA365171675SOBPc.1979A>C (p.His660Pro)
c.2132A>C (p.His711Pro)
c.2036A>C (p.His679Pro)
c.2018A>C (p.His673Pro)
c.1391A>C (p.His464Pro)
c.1202A>C (p.His401Pro)
c.1532A>C (p.His511Pro)
6g.107634823A>GCA365171676SOBPc.1979A>G (p.His660Arg)
c.2132A>G (p.His711Arg)
c.2036A>G (p.His679Arg)
c.2018A>G (p.His673Arg)
c.1391A>G (p.His464Arg)
c.1202A>G (p.His401Arg)
c.1532A>G (p.His511Arg)
dbSNP gnomAD v3 gnomAD v4
6g.107634823A>TCA365171677SOBPc.1979A>T (p.His660Leu)
c.2132A>T (p.His711Leu)
c.2036A>T (p.His679Leu)
c.2018A>T (p.His673Leu)
c.1391A>T (p.His464Leu)
c.1202A>T (p.His401Leu)
c.1532A>T (p.His511Leu)
gnomAD v4
6g.107634824C>ACA365171678SOBPc.1980C>A (p.His660Gln)
c.2133C>A (p.His711Gln)
c.2037C>A (p.His679Gln)
c.2019C>A (p.His673Gln)
c.1392C>A (p.His464Gln)
c.1203C>A (p.His401Gln)
c.1533C>A (p.His511Gln)
gnomAD v4
6g.107634824C=CA1653939343SOBPc.1980C= (p.His660=)
c.2133C= (p.His711=)
c.2037C= (p.His679=)
c.2019C= (p.His673=)
c.1392C= (p.His464=)
c.1203C= (p.His401=)
c.1533C= (p.His511=)
6g.107634824C>GCA365171679SOBPc.1980C>G (p.His660Gln)
c.2133C>G (p.His711Gln)
c.2037C>G (p.His679Gln)
c.2019C>G (p.His673Gln)
c.1392C>G (p.His464Gln)
c.1203C>G (p.His401Gln)
c.1533C>G (p.His511Gln)
gnomAD v4
6g.107634824C>TCA451581863SOBPc.1980C>T (p.His660=)
c.2133C>T (p.His711=)
c.2037C>T (p.His679=)
c.2019C>T (p.His673=)
c.1392C>T (p.His464=)
c.1203C>T (p.His401=)
c.1533C>T (p.His511=)
dbSNP gnomAD v2 gnomAD v4
6g.107634825C>ACA451581864SOBPc.1981C>A (p.Arg661=)
c.2134C>A (p.Arg712=)
c.2038C>A (p.Arg680=)
c.2020C>A (p.Arg674=)
c.1393C>A (p.Arg465=)
c.1204C>A (p.Arg402=)
c.1534C>A (p.Arg512=)
gnomAD v4
6g.107634825C=CA1653939346SOBPc.1981C= (p.Arg661=)
c.2134C= (p.Arg712=)
c.2038C= (p.Arg680=)
c.2020C= (p.Arg674=)
c.1393C= (p.Arg465=)
c.1204C= (p.Arg402=)
c.1534C= (p.Arg512=)
6g.107634825C>GCA365171680SOBPc.1981C>G (p.Arg661Gly)
c.2134C>G (p.Arg712Gly)
c.2038C>G (p.Arg680Gly)
c.2020C>G (p.Arg674Gly)
c.1393C>G (p.Arg465Gly)
c.1204C>G (p.Arg402Gly)
c.1534C>G (p.Arg512Gly)
gnomAD v4
6g.107634825C>TCA113783SOBPc.1981C>T (p.Arg661Ter)
c.2134C>T (p.Arg712Ter)
c.2038C>T (p.Arg680Ter)
c.2020C>T (p.Arg674Ter)
c.1393C>T (p.Arg465Ter)
c.1204C>T (p.Arg402Ter)
c.1534C>T (p.Arg512Ter)
ClinVar dbSNP gnomAD v4
6g.107634826G>ACA145013923SOBPc.1982G>A (p.Arg661Gln)
c.2135G>A (p.Arg712Gln)
c.2039G>A (p.Arg680Gln)
c.2021G>A (p.Arg674Gln)
c.1394G>A (p.Arg465Gln)
c.1205G>A (p.Arg402Gln)
c.1535G>A (p.Arg512Gln)
dbSNP gnomAD v2 gnomAD v4
6g.107634826G>CCA365171681SOBPc.1982G>C (p.Arg661Pro)
c.2135G>C (p.Arg712Pro)
c.2039G>C (p.Arg680Pro)
c.2021G>C (p.Arg674Pro)
c.1394G>C (p.Arg465Pro)
c.1205G>C (p.Arg402Pro)
c.1535G>C (p.Arg512Pro)
gnomAD v4
6g.107634826G=CA1653939349SOBPc.1982G= (p.Arg661=)
c.2135G= (p.Arg712=)
c.2039G= (p.Arg680=)
c.2021G= (p.Arg674=)
c.1394G= (p.Arg465=)
c.1205G= (p.Arg402=)
c.1535G= (p.Arg512=)
6g.107634826G>TCA365171682SOBPc.1982G>T (p.Arg661Leu)
c.2135G>T (p.Arg712Leu)
c.2039G>T (p.Arg680Leu)
c.2021G>T (p.Arg674Leu)
c.1394G>T (p.Arg465Leu)
c.1205G>T (p.Arg402Leu)
c.1535G>T (p.Arg512Leu)
gnomAD v4
6g.107634827A=CA1653939351SOBPc.1983A= (p.Arg661=)
c.2136A= (p.Arg712=)
c.2040A= (p.Arg680=)
c.2022A= (p.Arg674=)
c.1395A= (p.Arg465=)
c.1206A= (p.Arg402=)
c.1536A= (p.Arg512=)
6g.107634827A>CCA451581870SOBPc.1983A>C (p.Arg661=)
c.2136A>C (p.Arg712=)
c.2040A>C (p.Arg680=)
c.2022A>C (p.Arg674=)
c.1395A>C (p.Arg465=)
c.1206A>C (p.Arg402=)
c.1536A>C (p.Arg512=)
6g.107634827A>GCA145013927SOBPc.1983A>G (p.Arg661=)
c.2136A>G (p.Arg712=)
c.2040A>G (p.Arg680=)
c.2022A>G (p.Arg674=)
c.1395A>G (p.Arg465=)
c.1206A>G (p.Arg402=)
c.1536A>G (p.Arg512=)
dbSNP gnomAD v4
6g.107634827A>TCA451581872SOBPc.1983A>T (p.Arg661=)
c.2136A>T (p.Arg712=)
c.2040A>T (p.Arg680=)
c.2022A>T (p.Arg674=)
c.1395A>T (p.Arg465=)
c.1206A>T (p.Arg402=)
c.1536A>T (p.Arg512=)
6g.107634828G>ACA365171683SOBPc.1984G>A (p.Ala662Thr)
c.2137G>A (p.Ala713Thr)
c.2041G>A (p.Ala681Thr)
c.2023G>A (p.Ala675Thr)
c.1396G>A (p.Ala466Thr)
c.1207G>A (p.Ala403Thr)
c.1537G>A (p.Ala513Thr)
gnomAD v4
6g.107634828G>CCA365171684SOBPc.1984G>C (p.Ala662Pro)
c.2137G>C (p.Ala713Pro)
c.2041G>C (p.Ala681Pro)
c.2023G>C (p.Ala675Pro)
c.1396G>C (p.Ala466Pro)
c.1207G>C (p.Ala403Pro)
c.1537G>C (p.Ala513Pro)
dbSNP gnomAD v3 gnomAD v4
6g.107634828G=CA1653939353SOBPc.1984G= (p.Ala662=)
c.2137G= (p.Ala713=)
c.2041G= (p.Ala681=)
c.2023G= (p.Ala675=)
c.1396G= (p.Ala466=)
c.1207G= (p.Ala403=)
c.1537G= (p.Ala513=)
6g.107634828G>TCA365171685SOBPc.1984G>T (p.Ala662Ser)
c.2137G>T (p.Ala713Ser)
c.2041G>T (p.Ala681Ser)
c.2023G>T (p.Ala675Ser)
c.1396G>T (p.Ala466Ser)
c.1207G>T (p.Ala403Ser)
c.1537G>T (p.Ala513Ser)
dbSNP gnomAD v2 gnomAD v4
6g.107634829C>ACA365171688SOBPc.1985C>A (p.Ala662Asp)
c.2138C>A (p.Ala713Asp)
c.2042C>A (p.Ala681Asp)
c.2024C>A (p.Ala675Asp)
c.1397C>A (p.Ala466Asp)
c.1208C>A (p.Ala403Asp)
c.1538C>A (p.Ala513Asp)
gnomAD v4
6g.107634829C=CA1653939355SOBPc.1985C= (p.Ala662=)
c.2138C= (p.Ala713=)
c.2042C= (p.Ala681=)
c.2024C= (p.Ala675=)
c.1397C= (p.Ala466=)
c.1208C= (p.Ala403=)
c.1538C= (p.Ala513=)
6g.107634829C>GCA365171687SOBPc.1985C>G (p.Ala662Gly)
c.2138C>G (p.Ala713Gly)
c.2042C>G (p.Ala681Gly)
c.2024C>G (p.Ala675Gly)
c.1397C>G (p.Ala466Gly)
c.1208C>G (p.Ala403Gly)
c.1538C>G (p.Ala513Gly)
6g.107634829C>TCA365171686SOBPc.1985C>T (p.Ala662Val)
c.2138C>T (p.Ala713Val)
c.2042C>T (p.Ala681Val)
c.2024C>T (p.Ala675Val)
c.1397C>T (p.Ala466Val)
c.1208C>T (p.Ala403Val)
c.1538C>T (p.Ala513Val)
dbSNP gnomAD v2 gnomAD v4
6g.107634831delCA2679876764SOBPc.1987del (p.Arg663GlyfsTer5)
c.2140del (p.Arg714GlyfsTer5)
c.2044del (p.Arg682GlyfsTer5)
c.2026del (p.Arg676GlyfsTer5)
c.1399del (p.Arg467GlyfsTer5)
c.1210del (p.Arg404GlyfsTer5)
c.1540del (p.Arg514GlyfsTer5)
gnomAD v4
6g.107634830C>ACA451581878SOBPc.1986C>A (p.Ala662=)
c.2139C>A (p.Ala713=)
c.2043C>A (p.Ala681=)
c.2025C>A (p.Ala675=)
c.1398C>A (p.Ala466=)
c.1209C>A (p.Ala403=)
c.1539C>A (p.Ala513=)
gnomAD v4
6g.107634830C>GCA451581875SOBPc.1986C>G (p.Ala662=)
c.2139C>G (p.Ala713=)
c.2043C>G (p.Ala681=)
c.2025C>G (p.Ala675=)
c.1398C>G (p.Ala466=)
c.1209C>G (p.Ala403=)
c.1539C>G (p.Ala513=)
gnomAD v4
6g.107634830C>TCA451581877SOBPc.1986C>T (p.Ala662=)
c.2139C>T (p.Ala713=)
c.2043C>T (p.Ala681=)
c.2025C>T (p.Ala675=)
c.1398C>T (p.Ala466=)
c.1209C>T (p.Ala403=)
c.1539C>T (p.Ala513=)
dbSNP gnomAD v4
6g.107634831C>ACA451581879SOBPc.1987C>A (p.Arg663=)
c.2140C>A (p.Arg714=)
c.2044C>A (p.Arg682=)
c.2026C>A (p.Arg676=)
c.1399C>A (p.Arg467=)
c.1210C>A (p.Arg404=)
c.1540C>A (p.Arg514=)
dbSNP gnomAD v4
6g.107634831C=CA1653939357SOBPc.1987C= (p.Arg663=)
c.2140C= (p.Arg714=)
c.2044C= (p.Arg682=)
c.2026C= (p.Arg676=)
c.1399C= (p.Arg467=)
c.1210C= (p.Arg404=)
c.1540C= (p.Arg514=)
6g.107634831C>GCA365171689SOBPc.1987C>G (p.Arg663Gly)
c.2140C>G (p.Arg714Gly)
c.2044C>G (p.Arg682Gly)
c.2026C>G (p.Arg676Gly)
c.1399C>G (p.Arg467Gly)
c.1210C>G (p.Arg404Gly)
c.1540C>G (p.Arg514Gly)
gnomAD v4
6g.107634831C>TCA365171690SOBPc.1987C>T (p.Arg663Trp)
c.2140C>T (p.Arg714Trp)
c.2044C>T (p.Arg682Trp)
c.2026C>T (p.Arg676Trp)
c.1399C>T (p.Arg467Trp)
c.1210C>T (p.Arg404Trp)
c.1540C>T (p.Arg514Trp)
gnomAD v4
6g.107634832G>ACA365171691SOBPc.1988G>A (p.Arg663Gln)
c.2141G>A (p.Arg714Gln)
c.2045G>A (p.Arg682Gln)
c.2027G>A (p.Arg676Gln)
c.1400G>A (p.Arg467Gln)
c.1211G>A (p.Arg404Gln)
c.1541G>A (p.Arg514Gln)
dbSNP gnomAD v4
6g.107634832G>CCA365171692SOBPc.1988G>C (p.Arg663Pro)
c.2141G>C (p.Arg714Pro)
c.2045G>C (p.Arg682Pro)
c.2027G>C (p.Arg676Pro)
c.1400G>C (p.Arg467Pro)
c.1211G>C (p.Arg404Pro)
c.1541G>C (p.Arg514Pro)
gnomAD v4
6g.107634832G=CA1653939358SOBPc.1988G= (p.Arg663=)
c.2141G= (p.Arg714=)
c.2045G= (p.Arg682=)
c.2027G= (p.Arg676=)
c.1400G= (p.Arg467=)
c.1211G= (p.Arg404=)
c.1541G= (p.Arg514=)
6g.107634832G>TCA365171693SOBPc.1988G>T (p.Arg663Leu)
c.2141G>T (p.Arg714Leu)
c.2045G>T (p.Arg682Leu)
c.2027G>T (p.Arg676Leu)
c.1400G>T (p.Arg467Leu)
c.1211G>T (p.Arg404Leu)
c.1541G>T (p.Arg514Leu)
gnomAD v4 COSMIC
6g.107634833delCA2772523111SOBPc.1989del (p.Leu664CysfsTer4)
c.2142del (p.Leu715CysfsTer4)
c.2046del (p.Leu683CysfsTer4)
c.2028del (p.Leu677CysfsTer4)
c.1401del (p.Leu468CysfsTer4)
c.1212del (p.Leu405CysfsTer4)
c.1542del (p.Leu515CysfsTer4)
6g.107634833G>ACA451581884SOBPc.1989G>A (p.Arg663=)
c.2142G>A (p.Arg714=)
c.2046G>A (p.Arg682=)
c.2028G>A (p.Arg676=)
c.1401G>A (p.Arg467=)
c.1212G>A (p.Arg404=)
c.1542G>A (p.Arg514=)
gnomAD v4
6g.107634833G>CCA451581883SOBPc.1989G>C (p.Arg663=)
c.2142G>C (p.Arg714=)
c.2046G>C (p.Arg682=)
c.2028G>C (p.Arg676=)
c.1401G>C (p.Arg467=)
c.1212G>C (p.Arg404=)
c.1542G>C (p.Arg514=)
gnomAD v4
6g.107634833G>TCA451581881SOBPc.1989G>T (p.Arg663=)
c.2142G>T (p.Arg714=)
c.2046G>T (p.Arg682=)
c.2028G>T (p.Arg676=)
c.1401G>T (p.Arg467=)
c.1212G>T (p.Arg404=)
c.1542G>T (p.Arg514=)
gnomAD v4
6g.107634834C>ACA365171694SOBPc.1990C>A (p.Leu664Met)
c.2143C>A (p.Leu715Met)
c.2047C>A (p.Leu683Met)
c.2029C>A (p.Leu677Met)
c.1402C>A (p.Leu468Met)
c.1213C>A (p.Leu405Met)
c.1543C>A (p.Leu515Met)
dbSNP gnomAD v4
6g.107634834C=CA1653939359SOBPc.1990C= (p.Leu664=)
c.2143C= (p.Leu715=)
c.2047C= (p.Leu683=)
c.2029C= (p.Leu677=)
c.1402C= (p.Leu468=)
c.1213C= (p.Leu405=)
c.1543C= (p.Leu515=)
6g.107634834C>GCA365171695SOBPc.1990C>G (p.Leu664Val)
c.2143C>G (p.Leu715Val)
c.2047C>G (p.Leu683Val)
c.2029C>G (p.Leu677Val)
c.1402C>G (p.Leu468Val)
c.1213C>G (p.Leu405Val)
c.1543C>G (p.Leu515Val)
6g.107634834C>TCA451581890SOBPc.1990C>T (p.Leu664=)
c.2143C>T (p.Leu715=)
c.2047C>T (p.Leu683=)
c.2029C>T (p.Leu677=)
c.1402C>T (p.Leu468=)
c.1213C>T (p.Leu405=)
c.1543C>T (p.Leu515=)
dbSNP gnomAD v2 gnomAD v4
6g.107634835T>ACA365171696SOBPc.1991T>A (p.Leu664Gln)
c.2144T>A (p.Leu715Gln)
c.2048T>A (p.Leu683Gln)
c.2030T>A (p.Leu677Gln)
c.1403T>A (p.Leu468Gln)
c.1214T>A (p.Leu405Gln)
c.1544T>A (p.Leu515Gln)
6g.107634835T>CCA365171697SOBPc.1991T>C (p.Leu664Pro)
c.2144T>C (p.Leu715Pro)
c.2048T>C (p.Leu683Pro)
c.2030T>C (p.Leu677Pro)
c.1403T>C (p.Leu468Pro)
c.1214T>C (p.Leu405Pro)
c.1544T>C (p.Leu515Pro)
gnomAD v4
6g.107634835T>GCA365171698SOBPc.1991T>G (p.Leu664Arg)
c.2144T>G (p.Leu715Arg)
c.2048T>G (p.Leu683Arg)
c.2030T>G (p.Leu677Arg)
c.1403T>G (p.Leu468Arg)
c.1214T>G (p.Leu405Arg)
c.1544T>G (p.Leu515Arg)
6g.107634836delCA2679876765SOBPc.1992del (p.His665ThrfsTer3)
c.2145del (p.His716ThrfsTer3)
c.2049del (p.His684ThrfsTer3)
c.2031del (p.His678ThrfsTer3)
c.1404del (p.His469ThrfsTer3)
c.1215del (p.His406ThrfsTer3)
c.1545del (p.His516ThrfsTer3)
gnomAD v4
6g.107634836G>ACA451581892SOBPc.1992G>A (p.Leu664=)
c.2145G>A (p.Leu715=)
c.2049G>A (p.Leu683=)
c.2031G>A (p.Leu677=)
c.1404G>A (p.Leu468=)
c.1215G>A (p.Leu405=)
c.1545G>A (p.Leu515=)
dbSNP gnomAD v2 gnomAD v4
6g.107634836G>CCA451581894SOBPc.1992G>C (p.Leu664=)
c.2145G>C (p.Leu715=)
c.2049G>C (p.Leu683=)
c.2031G>C (p.Leu677=)
c.1404G>C (p.Leu468=)
c.1215G>C (p.Leu405=)
c.1545G>C (p.Leu515=)
gnomAD v4
6g.107634836G=CA1653939361SOBPc.1992G= (p.Leu664=)
c.2145G= (p.Leu715=)
c.2049G= (p.Leu683=)
c.2031G= (p.Leu677=)
c.1404G= (p.Leu468=)
c.1215G= (p.Leu405=)
c.1545G= (p.Leu515=)
6g.107634836G>TCA451581893SOBPc.1992G>T (p.Leu664=)
c.2145G>T (p.Leu715=)
c.2049G>T (p.Leu683=)
c.2031G>T (p.Leu677=)
c.1404G>T (p.Leu468=)
c.1215G>T (p.Leu405=)
c.1545G>T (p.Leu515=)
gnomAD v4
6g.107634837C>ACA365171699SOBPc.1993C>A (p.His665Asn)
c.2146C>A (p.His716Asn)
c.2050C>A (p.His684Asn)
c.2032C>A (p.His678Asn)
c.1405C>A (p.His469Asn)
c.1216C>A (p.His406Asn)
c.1546C>A (p.His516Asn)
gnomAD v4
6g.107634837C>GCA365171700SOBPc.1993C>G (p.His665Asp)
c.2146C>G (p.His716Asp)
c.2050C>G (p.His684Asp)
c.2032C>G (p.His678Asp)
c.1405C>G (p.His469Asp)
c.1216C>G (p.His406Asp)
c.1546C>G (p.His516Asp)
gnomAD v4
6g.107634837C>TCA365171701SOBPc.1993C>T (p.His665Tyr)
c.2146C>T (p.His716Tyr)
c.2050C>T (p.His684Tyr)
c.2032C>T (p.His678Tyr)
c.1405C>T (p.His469Tyr)
c.1216C>T (p.His406Tyr)
c.1546C>T (p.His516Tyr)
gnomAD v4
6g.107634838A>CCA365171704SOBPc.1994A>C (p.His665Pro)
c.2147A>C (p.His716Pro)
c.2051A>C (p.His684Pro)
c.2033A>C (p.His678Pro)
c.1406A>C (p.His469Pro)
c.1217A>C (p.His406Pro)
c.1547A>C (p.His516Pro)
6g.107634838A>GCA365171703SOBPc.1994A>G (p.His665Arg)
c.2147A>G (p.His716Arg)
c.2051A>G (p.His684Arg)
c.2033A>G (p.His678Arg)
c.1406A>G (p.His469Arg)
c.1217A>G (p.His406Arg)
c.1547A>G (p.His516Arg)
dbSNP gnomAD v4
6g.107634838A>TCA365171702SOBPc.1994A>T (p.His665Leu)
c.2147A>T (p.His716Leu)
c.2051A>T (p.His684Leu)
c.2033A>T (p.His678Leu)
c.1406A>T (p.His469Leu)
c.1217A>T (p.His406Leu)
c.1547A>T (p.His516Leu)
6g.107634839C>ACA365171705SOBPc.1995C>A (p.His665Gln)
c.2148C>A (p.His716Gln)
c.2052C>A (p.His684Gln)
c.2034C>A (p.His678Gln)
c.1407C>A (p.His469Gln)
c.1218C>A (p.His406Gln)
c.1548C>A (p.His516Gln)
gnomAD v4
6g.107634839C>GCA365171706SOBPc.1995C>G (p.His665Gln)
c.2148C>G (p.His716Gln)
c.2052C>G (p.His684Gln)
c.2034C>G (p.His678Gln)
c.1407C>G (p.His469Gln)
c.1218C>G (p.His406Gln)
c.1548C>G (p.His516Gln)
gnomAD v4
6g.107634839C>TCA451581898SOBPc.1995C>T (p.His665=)
c.2148C>T (p.His716=)
c.2052C>T (p.His684=)
c.2034C>T (p.His678=)
c.1407C>T (p.His469=)
c.1218C>T (p.His406=)
c.1548C>T (p.His516=)
gnomAD v4
6g.107634840A>CCA365171707SOBPc.1996A>C (p.Asn666His)
c.2149A>C (p.Asn717His)
c.2053A>C (p.Asn685His)
c.2035A>C (p.Asn679His)
c.1408A>C (p.Asn470His)
c.1219A>C (p.Asn407His)
c.1549A>C (p.Asn517His)
6g.107634840A>GCA365171709SOBPc.1996A>G (p.Asn666Asp)
c.2149A>G (p.Asn717Asp)
c.2053A>G (p.Asn685Asp)
c.2035A>G (p.Asn679Asp)
c.1408A>G (p.Asn470Asp)
c.1219A>G (p.Asn407Asp)
c.1549A>G (p.Asn517Asp)
gnomAD v4
6g.107634840A>TCA365171708SOBPc.1996A>T (p.Asn666Tyr)
c.2149A>T (p.Asn717Tyr)
c.2053A>T (p.Asn685Tyr)
c.2035A>T (p.Asn679Tyr)
c.1408A>T (p.Asn470Tyr)
c.1219A>T (p.Asn407Tyr)
c.1549A>T (p.Asn517Tyr)
gnomAD v4
6g.107634841A>CCA365171710SOBPc.1997A>C (p.Asn666Thr)
c.2150A>C (p.Asn717Thr)
c.2054A>C (p.Asn685Thr)
c.2036A>C (p.Asn679Thr)
c.1409A>C (p.Asn470Thr)
c.1220A>C (p.Asn407Thr)
c.1550A>C (p.Asn517Thr)
6g.107634841A>GCA365171711SOBPc.1997A>G (p.Asn666Ser)
c.2150A>G (p.Asn717Ser)
c.2054A>G (p.Asn685Ser)
c.2036A>G (p.Asn679Ser)
c.1409A>G (p.Asn470Ser)
c.1220A>G (p.Asn407Ser)
c.1550A>G (p.Asn517Ser)
gnomAD v4
6g.107634841A>TCA365171712SOBPc.1997A>T (p.Asn666Ile)
c.2150A>T (p.Asn717Ile)
c.2054A>T (p.Asn685Ile)
c.2036A>T (p.Asn679Ile)
c.1409A>T (p.Asn470Ile)
c.1220A>T (p.Asn407Ile)
c.1550A>T (p.Asn517Ile)
gnomAD v4
6g.107634842C>ACA365171713SOBPc.1998C>A (p.Asn666Lys)
c.2151C>A (p.Asn717Lys)
c.2055C>A (p.Asn685Lys)
c.2037C>A (p.Asn679Lys)
c.1410C>A (p.Asn470Lys)
c.1221C>A (p.Asn407Lys)
c.1551C>A (p.Asn517Lys)
dbSNP gnomAD v4
6g.107634842C=CA1653939362SOBPc.1998C= (p.Asn666=)
c.2151C= (p.Asn717=)
c.2055C= (p.Asn685=)
c.2037C= (p.Asn679=)
c.1410C= (p.Asn470=)
c.1221C= (p.Asn407=)
c.1551C= (p.Asn517=)
6g.107634842C>GCA365171714SOBPc.1998C>G (p.Asn666Lys)
c.2151C>G (p.Asn717Lys)
c.2055C>G (p.Asn685Lys)
c.2037C>G (p.Asn679Lys)
c.1410C>G (p.Asn470Lys)
c.1221C>G (p.Asn407Lys)
c.1551C>G (p.Asn517Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634842C>TCA451581901SOBPc.1998C>T (p.Asn666=)
c.2151C>T (p.Asn717=)
c.2055C>T (p.Asn685=)
c.2037C>T (p.Asn679=)
c.1410C>T (p.Asn470=)
c.1221C>T (p.Asn407=)
c.1551C>T (p.Asn517=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634843G>ACA365171715SOBPc.1999G>A (p.Val667Met)
c.2152G>A (p.Val718Met)
c.2056G>A (p.Val686Met)
c.2038G>A (p.Val680Met)
c.1411G>A (p.Val471Met)
c.1222G>A (p.Val408Met)
c.1552G>A (p.Val518Met)
dbSNP gnomAD v4 COSMIC
6g.107634843G>CCA365171716SOBPc.1999G>C (p.Val667Leu)
c.2152G>C (p.Val718Leu)
c.2056G>C (p.Val686Leu)
c.2038G>C (p.Val680Leu)
c.1411G>C (p.Val471Leu)
c.1222G>C (p.Val408Leu)
c.1552G>C (p.Val518Leu)
6g.107634843G>TCA365171717SOBPc.1999G>T (p.Val667Leu)
c.2152G>T (p.Val718Leu)
c.2056G>T (p.Val686Leu)
c.2038G>T (p.Val680Leu)
c.1411G>T (p.Val471Leu)
c.1222G>T (p.Val408Leu)
c.1552G>T (p.Val518Leu)
gnomAD v4
6g.107634844T>ACA365171718SOBPc.2000T>A (p.Val667Glu)
c.2153T>A (p.Val718Glu)
c.2057T>A (p.Val686Glu)
c.2039T>A (p.Val680Glu)
c.1412T>A (p.Val471Glu)
c.1223T>A (p.Val408Glu)
c.1553T>A (p.Val518Glu)
6g.107634844T>CCA365171719SOBPc.2000T>C (p.Val667Ala)
c.2153T>C (p.Val718Ala)
c.2057T>C (p.Val686Ala)
c.2039T>C (p.Val680Ala)
c.1412T>C (p.Val471Ala)
c.1223T>C (p.Val408Ala)
c.1553T>C (p.Val518Ala)
gnomAD v4
6g.107634844T>GCA365171720SOBPc.2000T>G (p.Val667Gly)
c.2153T>G (p.Val718Gly)
c.2057T>G (p.Val686Gly)
c.2039T>G (p.Val680Gly)
c.1412T>G (p.Val471Gly)
c.1223T>G (p.Val408Gly)
c.1553T>G (p.Val518Gly)
ClinVar gnomAD v4
6g.107634845G>ACA451581907SOBPc.2001G>A (p.Val667=)
c.2154G>A (p.Val718=)
c.2058G>A (p.Val686=)
c.2040G>A (p.Val680=)
c.1413G>A (p.Val471=)
c.1224G>A (p.Val408=)
c.1554G>A (p.Val518=)
gnomAD v4
6g.107634845G>CCA451581908SOBPc.2001G>C (p.Val667=)
c.2154G>C (p.Val718=)
c.2058G>C (p.Val686=)
c.2040G>C (p.Val680=)
c.1413G>C (p.Val471=)
c.1224G>C (p.Val408=)
c.1554G>C (p.Val518=)
gnomAD v4
6g.107634845G>TCA451581909SOBPc.2001G>T (p.Val667=)
c.2154G>T (p.Val718=)
c.2058G>T (p.Val686=)
c.2040G>T (p.Val680=)
c.1413G>T (p.Val471=)
c.1224G>T (p.Val408=)
c.1554G>T (p.Val518=)
gnomAD v4
6g.107634846A>CCA365171723SOBPc.2002A>C (p.Ile668Leu)
c.2155A>C (p.Ile719Leu)
c.2059A>C (p.Ile687Leu)
c.2041A>C (p.Ile681Leu)
c.1414A>C (p.Ile472Leu)
c.1225A>C (p.Ile409Leu)
c.1555A>C (p.Ile519Leu)
6g.107634846A>GCA365171722SOBPc.2002A>G (p.Ile668Val)
c.2155A>G (p.Ile719Val)
c.2059A>G (p.Ile687Val)
c.2041A>G (p.Ile681Val)
c.1414A>G (p.Ile472Val)
c.1225A>G (p.Ile409Val)
c.1555A>G (p.Ile519Val)
gnomAD v4
6g.107634846A>TCA365171721SOBPc.2002A>T (p.Ile668Phe)
c.2155A>T (p.Ile719Phe)
c.2059A>T (p.Ile687Phe)
c.2041A>T (p.Ile681Phe)
c.1414A>T (p.Ile472Phe)
c.1225A>T (p.Ile409Phe)
c.1555A>T (p.Ile519Phe)
gnomAD v4
6g.107634847delCA2679876766SOBPc.2003del (p.Ile668ThrfsTer?)
c.2156del (p.Ile719ThrfsTer?)
c.2060del (p.Ile687ThrfsTer?)
c.2042del (p.Ile681ThrfsTer?)
c.1415del (p.Ile472ThrfsTer?)
c.1226del (p.Ile409ThrfsTer?)
c.1556del (p.Ile519ThrfsTer?)
gnomAD v4
6g.107634847T>ACA365171724SOBPc.2003T>A (p.Ile668Asn)
c.2156T>A (p.Ile719Asn)
c.2060T>A (p.Ile687Asn)
c.2042T>A (p.Ile681Asn)
c.1415T>A (p.Ile472Asn)
c.1226T>A (p.Ile409Asn)
c.1556T>A (p.Ile519Asn)
6g.107634847T>CCA365171725SOBPc.2003T>C (p.Ile668Thr)
c.2156T>C (p.Ile719Thr)
c.2060T>C (p.Ile687Thr)
c.2042T>C (p.Ile681Thr)
c.1415T>C (p.Ile472Thr)
c.1226T>C (p.Ile409Thr)
c.1556T>C (p.Ile519Thr)
gnomAD v4
6g.107634847T>GCA365171726SOBPc.2003T>G (p.Ile668Ser)
c.2156T>G (p.Ile719Ser)
c.2060T>G (p.Ile687Ser)
c.2042T>G (p.Ile681Ser)
c.1415T>G (p.Ile472Ser)
c.1226T>G (p.Ile409Ser)
c.1556T>G (p.Ile519Ser)
6g.107634848C>ACA451581910SOBPc.2004C>A (p.Ile668=)
c.2157C>A (p.Ile719=)
c.2061C>A (p.Ile687=)
c.2043C>A (p.Ile681=)
c.1416C>A (p.Ile472=)
c.1227C>A (p.Ile409=)
c.1557C>A (p.Ile519=)
gnomAD v4
6g.107634848C>GCA365171727SOBPc.2004C>G (p.Ile668Met)
c.2157C>G (p.Ile719Met)
c.2061C>G (p.Ile687Met)
c.2043C>G (p.Ile681Met)
c.1416C>G (p.Ile472Met)
c.1227C>G (p.Ile409Met)
c.1557C>G (p.Ile519Met)
gnomAD v4
6g.107634848C>TCA451581911SOBPc.2004C>T (p.Ile668=)
c.2157C>T (p.Ile719=)
c.2061C>T (p.Ile687=)
c.2043C>T (p.Ile681=)
c.1416C>T (p.Ile472=)
c.1227C>T (p.Ile409=)
c.1557C>T (p.Ile519=)
gnomAD v4
6g.107634849delCA2679876767SOBPc.2005del (p.His669ThrfsTer?)
c.2158del (p.His720ThrfsTer?)
c.2062del (p.His688ThrfsTer?)
c.2044del (p.His682ThrfsTer?)
c.1417del (p.His473ThrfsTer?)
c.1228del (p.His410ThrfsTer?)
c.1558del (p.His520ThrfsTer?)
gnomAD v4
6g.107634849C>ACA365171728SOBPc.2005C>A (p.His669Asn)
c.2158C>A (p.His720Asn)
c.2062C>A (p.His688Asn)
c.2044C>A (p.His682Asn)
c.1417C>A (p.His473Asn)
c.1228C>A (p.His410Asn)
c.1558C>A (p.His520Asn)
gnomAD v4
6g.107634849C=CA1653939364SOBPc.2005C= (p.His669=)
c.2158C= (p.His720=)
c.2062C= (p.His688=)
c.2044C= (p.His682=)
c.1417C= (p.His473=)
c.1228C= (p.His410=)
c.1558C= (p.His520=)
6g.107634849C>GCA365171729SOBPc.2005C>G (p.His669Asp)
c.2158C>G (p.His720Asp)
c.2062C>G (p.His688Asp)
c.2044C>G (p.His682Asp)
c.1417C>G (p.His473Asp)
c.1228C>G (p.His410Asp)
c.1558C>G (p.His520Asp)
gnomAD v4
6g.107634849C>TCA365171730SOBPc.2005C>T (p.His669Tyr)
c.2158C>T (p.His720Tyr)
c.2062C>T (p.His688Tyr)
c.2044C>T (p.His682Tyr)
c.1417C>T (p.His473Tyr)
c.1228C>T (p.His410Tyr)
c.1558C>T (p.His520Tyr)
ClinVar dbSNP gnomAD v4
6g.107634850A=CA1653939365SOBPc.2006A= (p.His669=)
c.2159A= (p.His720=)
c.2063A= (p.His688=)
c.2045A= (p.His682=)
c.1418A= (p.His473=)
c.1229A= (p.His410=)
c.1559A= (p.His520=)
6g.107634850A>CCA365171731SOBPc.2006A>C (p.His669Pro)
c.2159A>C (p.His720Pro)
c.2063A>C (p.His688Pro)
c.2045A>C (p.His682Pro)
c.1418A>C (p.His473Pro)
c.1229A>C (p.His410Pro)
c.1559A>C (p.His520Pro)
6g.107634850A>GCA365171732SOBPc.2006A>G (p.His669Arg)
c.2159A>G (p.His720Arg)
c.2063A>G (p.His688Arg)
c.2045A>G (p.His682Arg)
c.1418A>G (p.His473Arg)
c.1229A>G (p.His410Arg)
c.1559A>G (p.His520Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634850A>TCA365171733SOBPc.2006A>T (p.His669Leu)
c.2159A>T (p.His720Leu)
c.2063A>T (p.His688Leu)
c.2045A>T (p.His682Leu)
c.1418A>T (p.His473Leu)
c.1229A>T (p.His410Leu)
c.1559A>T (p.His520Leu)
6g.107634851C>ACA365171734SOBPc.2007C>A (p.His669Gln)
c.2160C>A (p.His720Gln)
c.2064C>A (p.His688Gln)
c.2046C>A (p.His682Gln)
c.1419C>A (p.His473Gln)
c.1230C>A (p.His410Gln)
c.1560C>A (p.His520Gln)
gnomAD v4
6g.107634851C>GCA365171735SOBPc.2007C>G (p.His669Gln)
c.2160C>G (p.His720Gln)
c.2064C>G (p.His688Gln)
c.2046C>G (p.His682Gln)
c.1419C>G (p.His473Gln)
c.1230C>G (p.His410Gln)
c.1560C>G (p.His520Gln)
gnomAD v4
6g.107634851C>TCA451581914SOBPc.2007C>T (p.His669=)
c.2160C>T (p.His720=)
c.2064C>T (p.His688=)
c.2046C>T (p.His682=)
c.1419C>T (p.His473=)
c.1230C>T (p.His410=)
c.1560C>T (p.His520=)
gnomAD v4
6g.107634851_107634857delinsCCGCGCGCA1653939367SOBPc.2007_2013delinsCCGCGCG (p.His669=)
c.2160_2166delinsCCGCGCG (p.His720=)
c.2064_2070delinsCCGCGCG (p.His688=)
c.2046_2052delinsCCGCGCG (p.His682=)
c.1419_1425delinsCCGCGCG (p.His473=)
c.1230_1236delinsCCGCGCG (p.His410=)
c.1560_1566delinsCCGCGCG (p.His520=)
6g.107634851_107634859delinsCCGCGCGCTCA1653939368SOBPc.2007_2015delinsCCGCGCGCT (p.His669=)
c.2160_2168delinsCCGCGCGCT (p.His720=)
c.2064_2072delinsCCGCGCGCT (p.His688=)
c.2046_2054delinsCCGCGCGCT (p.His682=)
c.1419_1427delinsCCGCGCGCT (p.His473=)
c.1230_1238delinsCCGCGCGCT (p.His410=)
c.1560_1568delinsCCGCGCGCT (p.His520=)
6g.107634852C>ACA365171738SOBPc.2008C>A (p.Arg670Ser)
c.2161C>A (p.Arg721Ser)
c.2065C>A (p.Arg689Ser)
c.2047C>A (p.Arg683Ser)
c.1420C>A (p.Arg474Ser)
c.1231C>A (p.Arg411Ser)
c.1561C>A (p.Arg521Ser)
gnomAD v4
6g.107634852C=CA1653939370SOBPc.2008C= (p.Arg670=)
c.2161C= (p.Arg721=)
c.2065C= (p.Arg689=)
c.2047C= (p.Arg683=)
c.1420C= (p.Arg474=)
c.1231C= (p.Arg411=)
c.1561C= (p.Arg521=)
6g.107634852C>GCA365171737SOBPc.2008C>G (p.Arg670Gly)
c.2161C>G (p.Arg721Gly)
c.2065C>G (p.Arg689Gly)
c.2047C>G (p.Arg683Gly)
c.1420C>G (p.Arg474Gly)
c.1231C>G (p.Arg411Gly)
c.1561C>G (p.Arg521Gly)
gnomAD v4
6g.107634852C>TCA365171736SOBPc.2008C>T (p.Arg670Cys)
c.2161C>T (p.Arg721Cys)
c.2065C>T (p.Arg689Cys)
c.2047C>T (p.Arg683Cys)
c.1420C>T (p.Arg474Cys)
c.1231C>T (p.Arg411Cys)
c.1561C>T (p.Arg521Cys)
dbSNP gnomAD v3 gnomAD v4
6g.107634853_107634858delCA1653939371SOBPc.2009_2014del (p.Arg670_Ala671del)
c.2162_2167del (p.Arg721_Ala722del)
c.2066_2071del (p.Arg689_Ala690del)
c.2048_2053del (p.Arg683_Ala684del)
c.1421_1426del (p.Arg474_Ala475del)
c.1232_1237del (p.Arg411_Ala412del)
c.1562_1567del (p.Arg521_Ala522del)
dbSNP
6g.107634852_107634859delCA1092914425SOBPc.2008_2015del (p.Arg670AlafsTer?)
c.2161_2168del (p.Arg721AlafsTer?)
c.2065_2072del (p.Arg689AlafsTer?)
c.2047_2054del (p.Arg683AlafsTer?)
c.1420_1427del (p.Arg474AlafsTer?)
c.1231_1238del (p.Arg411AlafsTer?)
c.1561_1568del (p.Arg521AlafsTer?)
dbSNP gnomAD v3 gnomAD v4
6g.107634853G>ACA365171739SOBPc.2009G>A (p.Arg670His)
c.2162G>A (p.Arg721His)
c.2066G>A (p.Arg689His)
c.2048G>A (p.Arg683His)
c.1421G>A (p.Arg474His)
c.1232G>A (p.Arg411His)
c.1562G>A (p.Arg521His)
dbSNP gnomAD v3 gnomAD v4
6g.107634853G>CCA365171740SOBPc.2009G>C (p.Arg670Pro)
c.2162G>C (p.Arg721Pro)
c.2066G>C (p.Arg689Pro)
c.2048G>C (p.Arg683Pro)
c.1421G>C (p.Arg474Pro)
c.1232G>C (p.Arg411Pro)
c.1562G>C (p.Arg521Pro)
dbSNP gnomAD v4
6g.107634853G=CA1653939373SOBPc.2009G= (p.Arg670=)
c.2162G= (p.Arg721=)
c.2066G= (p.Arg689=)
c.2048G= (p.Arg683=)
c.1421G= (p.Arg474=)
c.1232G= (p.Arg411=)
c.1562G= (p.Arg521=)
6g.107634853G>TCA365171741SOBPc.2009G>T (p.Arg670Leu)
c.2162G>T (p.Arg721Leu)
c.2066G>T (p.Arg689Leu)
c.2048G>T (p.Arg683Leu)
c.1421G>T (p.Arg474Leu)
c.1232G>T (p.Arg411Leu)
c.1562G>T (p.Arg521Leu)
gnomAD v4
6g.107634854C>ACA451581917SOBPc.2010C>A (p.Arg670=)
c.2163C>A (p.Arg721=)
c.2067C>A (p.Arg689=)
c.2049C>A (p.Arg683=)
c.1422C>A (p.Arg474=)
c.1233C>A (p.Arg411=)
c.1563C>A (p.Arg521=)
dbSNP gnomAD v3 gnomAD v4
6g.107634854C=CA1653939375SOBPc.2010C= (p.Arg670=)
c.2163C= (p.Arg721=)
c.2067C= (p.Arg689=)
c.2049C= (p.Arg683=)
c.1422C= (p.Arg474=)
c.1233C= (p.Arg411=)
c.1563C= (p.Arg521=)
6g.107634854C>GCA451581918SOBPc.2010C>G (p.Arg670=)
c.2163C>G (p.Arg721=)
c.2067C>G (p.Arg689=)
c.2049C>G (p.Arg683=)
c.1422C>G (p.Arg474=)
c.1233C>G (p.Arg411=)
c.1563C>G (p.Arg521=)
dbSNP gnomAD v3 gnomAD v4
6g.107634854C>TCA451581922SOBPc.2010C>T (p.Arg670=)
c.2163C>T (p.Arg721=)
c.2067C>T (p.Arg689=)
c.2049C>T (p.Arg683=)
c.1422C>T (p.Arg474=)
c.1233C>T (p.Arg411=)
c.1563C>T (p.Arg521=)
gnomAD v4
6g.107634855G>ACA365171742SOBPc.2011G>A (p.Ala671Thr)
c.2164G>A (p.Ala722Thr)
c.2068G>A (p.Ala690Thr)
c.2050G>A (p.Ala684Thr)
c.1423G>A (p.Ala475Thr)
c.1234G>A (p.Ala412Thr)
c.1564G>A (p.Ala522Thr)
dbSNP gnomAD v4
6g.107634855G>CCA365171743SOBPc.2011G>C (p.Ala671Pro)
c.2164G>C (p.Ala722Pro)
c.2068G>C (p.Ala690Pro)
c.2050G>C (p.Ala684Pro)
c.1423G>C (p.Ala475Pro)
c.1234G>C (p.Ala412Pro)
c.1564G>C (p.Ala522Pro)
gnomAD v4
6g.107634855G=CA1653939377SOBPc.2011G= (p.Ala671=)
c.2164G= (p.Ala722=)
c.2068G= (p.Ala690=)
c.2050G= (p.Ala684=)
c.1423G= (p.Ala475=)
c.1234G= (p.Ala412=)
c.1564G= (p.Ala522=)
6g.107634855G>TCA365171744SOBPc.2011G>T (p.Ala671Ser)
c.2164G>T (p.Ala722Ser)
c.2068G>T (p.Ala690Ser)
c.2050G>T (p.Ala684Ser)
c.1423G>T (p.Ala475Ser)
c.1234G>T (p.Ala412Ser)
c.1564G>T (p.Ala522Ser)
gnomAD v4
6g.107634856C>ACA365171747SOBPc.2012C>A (p.Ala671Glu)
c.2165C>A (p.Ala722Glu)
c.2069C>A (p.Ala690Glu)
c.2051C>A (p.Ala684Glu)
c.1424C>A (p.Ala475Glu)
c.1235C>A (p.Ala412Glu)
c.1565C>A (p.Ala522Glu)
gnomAD v4
6g.107634856C=CA1653939379SOBPc.2012C= (p.Ala671=)
c.2165C= (p.Ala722=)
c.2069C= (p.Ala690=)
c.2051C= (p.Ala684=)
c.1424C= (p.Ala475=)
c.1235C= (p.Ala412=)
c.1565C= (p.Ala522=)
6g.107634856C>GCA365171745SOBPc.2012C>G (p.Ala671Gly)
c.2165C>G (p.Ala722Gly)
c.2069C>G (p.Ala690Gly)
c.2051C>G (p.Ala684Gly)
c.1424C>G (p.Ala475Gly)
c.1235C>G (p.Ala412Gly)
c.1565C>G (p.Ala522Gly)
dbSNP gnomAD v2 gnomAD v4
6g.107634856C>TCA365171746SOBPc.2012C>T (p.Ala671Val)
c.2165C>T (p.Ala722Val)
c.2069C>T (p.Ala690Val)
c.2051C>T (p.Ala684Val)
c.1424C>T (p.Ala475Val)
c.1235C>T (p.Ala412Val)
c.1565C>T (p.Ala522Val)
dbSNP gnomAD v4
6g.107634857G>ACA451581929SOBPc.2013G>A (p.Ala671=)
c.2166G>A (p.Ala722=)
c.2070G>A (p.Ala690=)
c.2052G>A (p.Ala684=)
c.1425G>A (p.Ala475=)
c.1236G>A (p.Ala412=)
c.1566G>A (p.Ala522=)
dbSNP gnomAD v4
6g.107634857G>CCA451581928SOBPc.2013G>C (p.Ala671=)
c.2166G>C (p.Ala722=)
c.2070G>C (p.Ala690=)
c.2052G>C (p.Ala684=)
c.1425G>C (p.Ala475=)
c.1236G>C (p.Ala412=)
c.1566G>C (p.Ala522=)
gnomAD v4
6g.107634857G>TCA451581927SOBPc.2013G>T (p.Ala671=)
c.2166G>T (p.Ala722=)
c.2070G>T (p.Ala690=)
c.2052G>T (p.Ala684=)
c.1425G>T (p.Ala475=)
c.1236G>T (p.Ala412=)
c.1566G>T (p.Ala522=)
gnomAD v4
6g.107634858C>ACA365171748SOBPc.2014C>A (p.Leu672Met)
c.2167C>A (p.Leu723Met)
c.2071C>A (p.Leu691Met)
c.2053C>A (p.Leu685Met)
c.1426C>A (p.Leu476Met)
c.1237C>A (p.Leu413Met)
c.1567C>A (p.Leu523Met)
gnomAD v4
6g.107634858C=CA1653939381SOBPc.2014C= (p.Leu672=)
c.2167C= (p.Leu723=)
c.2071C= (p.Leu691=)
c.2053C= (p.Leu685=)
c.1426C= (p.Leu476=)
c.1237C= (p.Leu413=)
c.1567C= (p.Leu523=)
6g.107634858C>GCA365171749SOBPc.2014C>G (p.Leu672Val)
c.2167C>G (p.Leu723Val)
c.2071C>G (p.Leu691Val)
c.2053C>G (p.Leu685Val)
c.1426C>G (p.Leu476Val)
c.1237C>G (p.Leu413Val)
c.1567C>G (p.Leu523Val)
dbSNP gnomAD v4
6g.107634858C>TCA451581930SOBPc.2014C>T (p.Leu672=)
c.2167C>T (p.Leu723=)
c.2071C>T (p.Leu691=)
c.2053C>T (p.Leu685=)
c.1426C>T (p.Leu476=)
c.1237C>T (p.Leu413=)
c.1567C>T (p.Leu523=)
gnomAD v4
6g.107634859T>ACA365171750SOBPc.2015T>A (p.Leu672Gln)
c.2168T>A (p.Leu723Gln)
c.2072T>A (p.Leu691Gln)
c.2054T>A (p.Leu685Gln)
c.1427T>A (p.Leu476Gln)
c.1238T>A (p.Leu413Gln)
c.1568T>A (p.Leu523Gln)
gnomAD v4
6g.107634859T>CCA365171751SOBPc.2015T>C (p.Leu672Pro)
c.2168T>C (p.Leu723Pro)
c.2072T>C (p.Leu691Pro)
c.2054T>C (p.Leu685Pro)
c.1427T>C (p.Leu476Pro)
c.1238T>C (p.Leu413Pro)
c.1568T>C (p.Leu523Pro)
gnomAD v4
6g.107634859T>GCA365171752SOBPc.2015T>G (p.Leu672Arg)
c.2168T>G (p.Leu723Arg)
c.2072T>G (p.Leu691Arg)
c.2054T>G (p.Leu685Arg)
c.1427T>G (p.Leu476Arg)
c.1238T>G (p.Leu413Arg)
c.1568T>G (p.Leu523Arg)
gnomAD v3 gnomAD v4
6g.107634860G>ACA451581932SOBPc.2016G>A (p.Leu672=)
c.2169G>A (p.Leu723=)
c.2073G>A (p.Leu691=)
c.2055G>A (p.Leu685=)
c.1428G>A (p.Leu476=)
c.1239G>A (p.Leu413=)
c.1569G>A (p.Leu523=)
gnomAD v4
6g.107634860G>CCA451581933SOBPc.2016G>C (p.Leu672=)
c.2169G>C (p.Leu723=)
c.2073G>C (p.Leu691=)
c.2055G>C (p.Leu685=)
c.1428G>C (p.Leu476=)
c.1239G>C (p.Leu413=)
c.1569G>C (p.Leu523=)
dbSNP gnomAD v4
6g.107634860G=CA1653939382SOBPc.2016G= (p.Leu672=)
c.2169G= (p.Leu723=)
c.2073G= (p.Leu691=)
c.2055G= (p.Leu685=)
c.1428G= (p.Leu476=)
c.1239G= (p.Leu413=)
c.1569G= (p.Leu523=)
6g.107634860G>TCA451581934SOBPc.2016G>T (p.Leu672=)
c.2169G>T (p.Leu723=)
c.2073G>T (p.Leu691=)
c.2055G>T (p.Leu685=)
c.1428G>T (p.Leu476=)
c.1239G>T (p.Leu413=)
c.1569G>T (p.Leu523=)
gnomAD v4
6g.107634860_107634861insTCA1092914426SOBPc.2016_2017insT (p.His673SerfsTer?)
c.2169_2170insT (p.His724SerfsTer?)
c.2073_2074insT (p.His692SerfsTer?)
c.2055_2056insT (p.His686SerfsTer?)
c.1428_1429insT (p.His477SerfsTer?)
c.1239_1240insT (p.His414SerfsTer?)
c.1569_1570insT (p.His524SerfsTer?)
dbSNP gnomAD v3 gnomAD v4
6g.107634861C>ACA365171753SOBPc.2017C>A (p.His673Asn)
c.2170C>A (p.His724Asn)
c.2074C>A (p.His692Asn)
c.2056C>A (p.His686Asn)
c.1429C>A (p.His477Asn)
c.1240C>A (p.His414Asn)
c.1570C>A (p.His524Asn)
dbSNP gnomAD v4
6g.107634861C=CA1653939384SOBPc.2017C= (p.His673=)
c.2170C= (p.His724=)
c.2074C= (p.His692=)
c.2056C= (p.His686=)
c.1429C= (p.His477=)
c.1240C= (p.His414=)
c.1570C= (p.His524=)
6g.107634861C>GCA365171755SOBPc.2017C>G (p.His673Asp)
c.2170C>G (p.His724Asp)
c.2074C>G (p.His692Asp)
c.2056C>G (p.His686Asp)
c.1429C>G (p.His477Asp)
c.1240C>G (p.His414Asp)
c.1570C>G (p.His524Asp)
gnomAD v4
6g.107634861C>TCA365171754SOBPc.2017C>T (p.His673Tyr)
c.2170C>T (p.His724Tyr)
c.2074C>T (p.His692Tyr)
c.2056C>T (p.His686Tyr)
c.1429C>T (p.His477Tyr)
c.1240C>T (p.His414Tyr)
c.1570C>T (p.His524Tyr)
gnomAD v4
6g.107634862A>CCA365171756SOBPc.2018A>C (p.His673Pro)
c.2171A>C (p.His724Pro)
c.2075A>C (p.His692Pro)
c.2057A>C (p.His686Pro)
c.1430A>C (p.His477Pro)
c.1241A>C (p.His414Pro)
c.1571A>C (p.His524Pro)
6g.107634862A>GCA365171757SOBPc.2018A>G (p.His673Arg)
c.2171A>G (p.His724Arg)
c.2075A>G (p.His692Arg)
c.2057A>G (p.His686Arg)
c.1430A>G (p.His477Arg)
c.1241A>G (p.His414Arg)
c.1571A>G (p.His524Arg)
gnomAD v4
6g.107634862A>TCA365171758SOBPc.2018A>T (p.His673Leu)
c.2171A>T (p.His724Leu)
c.2075A>T (p.His692Leu)
c.2057A>T (p.His686Leu)
c.1430A>T (p.His477Leu)
c.1241A>T (p.His414Leu)
c.1571A>T (p.His524Leu)
6g.107634862dupCA1092914427SOBPc.2018dup (p.His673GlnfsTer?)
c.2171dup (p.His724GlnfsTer?)
c.2075dup (p.His692GlnfsTer?)
c.2057dup (p.His686GlnfsTer?)
c.1430dup (p.His477GlnfsTer?)
c.1241dup (p.His414GlnfsTer?)
c.1571dup (p.His524GlnfsTer?)
dbSNP gnomAD v3 gnomAD v4
6g.107634863C>ACA365171759SOBPc.2019C>A (p.His673Gln)
c.2172C>A (p.His724Gln)
c.2076C>A (p.His692Gln)
c.2058C>A (p.His686Gln)
c.1431C>A (p.His477Gln)
c.1242C>A (p.His414Gln)
c.1572C>A (p.His524Gln)
gnomAD v4
6g.107634863C=CA1653939386SOBPc.2019C= (p.His673=)
c.2172C= (p.His724=)
c.2076C= (p.His692=)
c.2058C= (p.His686=)
c.1431C= (p.His477=)
c.1242C= (p.His414=)
c.1572C= (p.His524=)
6g.107634863C>GCA365171760SOBPc.2019C>G (p.His673Gln)
c.2172C>G (p.His724Gln)
c.2076C>G (p.His692Gln)
c.2058C>G (p.His686Gln)
c.1431C>G (p.His477Gln)
c.1242C>G (p.His414Gln)
c.1572C>G (p.His524Gln)
dbSNP gnomAD v3 gnomAD v4
6g.107634863C>TCA451581937SOBPc.2019C>T (p.His673=)
c.2172C>T (p.His724=)
c.2076C>T (p.His692=)
c.2058C>T (p.His686=)
c.1431C>T (p.His477=)
c.1242C>T (p.His414=)
c.1572C>T (p.His524=)
dbSNP gnomAD v3 gnomAD v4
6g.107634864G>ACA145013938SOBPc.2020G>A (p.Ala674Thr)
c.2173G>A (p.Ala725Thr)
c.2077G>A (p.Ala693Thr)
c.2059G>A (p.Ala687Thr)
c.1432G>A (p.Ala478Thr)
c.1243G>A (p.Ala415Thr)
c.1573G>A (p.Ala525Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634864G>CCA365171761SOBPc.2020G>C (p.Ala674Pro)
c.2173G>C (p.Ala725Pro)
c.2077G>C (p.Ala693Pro)
c.2059G>C (p.Ala687Pro)
c.1432G>C (p.Ala478Pro)
c.1243G>C (p.Ala415Pro)
c.1573G>C (p.Ala525Pro)
gnomAD v4
6g.107634864G=CA1653939388SOBPc.2020G= (p.Ala674=)
c.2173G= (p.Ala725=)
c.2077G= (p.Ala693=)
c.2059G= (p.Ala687=)
c.1432G= (p.Ala478=)
c.1243G= (p.Ala415=)
c.1573G= (p.Ala525=)
6g.107634864G>TCA365171762SOBPc.2020G>T (p.Ala674Ser)
c.2173G>T (p.Ala725Ser)
c.2077G>T (p.Ala693Ser)
c.2059G>T (p.Ala687Ser)
c.1432G>T (p.Ala478Ser)
c.1243G>T (p.Ala415Ser)
c.1573G>T (p.Ala525Ser)
gnomAD v4
6g.107634865C>ACA365171763SOBPc.2021C>A (p.Ala674Glu)
c.2174C>A (p.Ala725Glu)
c.2078C>A (p.Ala693Glu)
c.2060C>A (p.Ala687Glu)
c.1433C>A (p.Ala478Glu)
c.1244C>A (p.Ala415Glu)
c.1574C>A (p.Ala525Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634865C=CA1653939390SOBPc.2021C= (p.Ala674=)
c.2174C= (p.Ala725=)
c.2078C= (p.Ala693=)
c.2060C= (p.Ala687=)
c.1433C= (p.Ala478=)
c.1244C= (p.Ala415=)
c.1574C= (p.Ala525=)
6g.107634865C>GCA365171764SOBPc.2021C>G (p.Ala674Gly)
c.2174C>G (p.Ala725Gly)
c.2078C>G (p.Ala693Gly)
c.2060C>G (p.Ala687Gly)
c.1433C>G (p.Ala478Gly)
c.1244C>G (p.Ala415Gly)
c.1574C>G (p.Ala525Gly)
dbSNP gnomAD v3 gnomAD v4
6g.107634865C>TCA365171765SOBPc.2021C>T (p.Ala674Val)
c.2174C>T (p.Ala725Val)
c.2078C>T (p.Ala693Val)
c.2060C>T (p.Ala687Val)
c.1433C>T (p.Ala478Val)
c.1244C>T (p.Ala415Val)
c.1574C>T (p.Ala525Val)
gnomAD v4
6g.107634866G>ACA3946612SOBPc.2022G>A (p.Ala674=)
c.2175G>A (p.Ala725=)
c.2079G>A (p.Ala693=)
c.2061G>A (p.Ala687=)
c.1434G>A (p.Ala478=)
c.1245G>A (p.Ala415=)
c.1575G>A (p.Ala525=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634866G>CCA451581944SOBPc.2022G>C (p.Ala674=)
c.2175G>C (p.Ala725=)
c.2079G>C (p.Ala693=)
c.2061G>C (p.Ala687=)
c.1434G>C (p.Ala478=)
c.1245G>C (p.Ala415=)
c.1575G>C (p.Ala525=)
dbSNP gnomAD v3 gnomAD v4
6g.107634866G=CA1653939391SOBPc.2022G= (p.Ala674=)
c.2175G= (p.Ala725=)
c.2079G= (p.Ala693=)
c.2061G= (p.Ala687=)
c.1434G= (p.Ala478=)
c.1245G= (p.Ala415=)
c.1575G= (p.Ala525=)
6g.107634866G>TCA451581945SOBPc.2022G>T (p.Ala674=)
c.2175G>T (p.Ala725=)
c.2079G>T (p.Ala693=)
c.2061G>T (p.Ala687=)
c.1434G>T (p.Ala478=)
c.1245G>T (p.Ala415=)
c.1575G>T (p.Ala525=)
gnomAD v4
6g.107634867C>ACA365171768SOBPc.2023C>A (p.His675Asn)
c.2176C>A (p.His726Asn)
c.2080C>A (p.His694Asn)
c.2062C>A (p.His688Asn)
c.1435C>A (p.His479Asn)
c.1246C>A (p.His416Asn)
c.1576C>A (p.His526Asn)
gnomAD v4
6g.107634867C=CA1653939394SOBPc.2023C= (p.His675=)
c.2176C= (p.His726=)
c.2080C= (p.His694=)
c.2062C= (p.His688=)
c.1435C= (p.His479=)
c.1246C= (p.His416=)
c.1576C= (p.His526=)
6g.107634867C>GCA365171766SOBPc.2023C>G (p.His675Asp)
c.2176C>G (p.His726Asp)
c.2080C>G (p.His694Asp)
c.2062C>G (p.His688Asp)
c.1435C>G (p.His479Asp)
c.1246C>G (p.His416Asp)
c.1576C>G (p.His526Asp)
6g.107634867C>TCA365171767SOBPc.2023C>T (p.His675Tyr)
c.2176C>T (p.His726Tyr)
c.2080C>T (p.His694Tyr)
c.2062C>T (p.His688Tyr)
c.1435C>T (p.His479Tyr)
c.1246C>T (p.His416Tyr)
c.1576C>T (p.His526Tyr)
dbSNP gnomAD v2 gnomAD v4
6g.107634868A>CCA365171769SOBPc.2024A>C (p.His675Pro)
c.2177A>C (p.His726Pro)
c.2081A>C (p.His694Pro)
c.2063A>C (p.His688Pro)
c.1436A>C (p.His479Pro)
c.1247A>C (p.His416Pro)
c.1577A>C (p.His526Pro)
6g.107634868A>GCA365171770SOBPc.2024A>G (p.His675Arg)
c.2177A>G (p.His726Arg)
c.2081A>G (p.His694Arg)
c.2063A>G (p.His688Arg)
c.1436A>G (p.His479Arg)
c.1247A>G (p.His416Arg)
c.1577A>G (p.His526Arg)
gnomAD v4
6g.107634868A>TCA365171771SOBPc.2024A>T (p.His675Leu)
c.2177A>T (p.His726Leu)
c.2081A>T (p.His694Leu)
c.2063A>T (p.His688Leu)
c.1436A>T (p.His479Leu)
c.1247A>T (p.His416Leu)
c.1577A>T (p.His526Leu)
gnomAD v4
6g.107634869C>ACA365171772SOBPc.2025C>A (p.His675Gln)
c.2178C>A (p.His726Gln)
c.2082C>A (p.His694Gln)
c.2064C>A (p.His688Gln)
c.1437C>A (p.His479Gln)
c.1248C>A (p.His416Gln)
c.1578C>A (p.His526Gln)
ClinVar dbSNP gnomAD v4
6g.107634869C=CA1653939396SOBPc.2025C= (p.His675=)
c.2178C= (p.His726=)
c.2082C= (p.His694=)
c.2064C= (p.His688=)
c.1437C= (p.His479=)
c.1248C= (p.His416=)
c.1578C= (p.His526=)
6g.107634869C>GCA365171773SOBPc.2025C>G (p.His675Gln)
c.2178C>G (p.His726Gln)
c.2082C>G (p.His694Gln)
c.2064C>G (p.His688Gln)
c.1437C>G (p.His479Gln)
c.1248C>G (p.His416Gln)
c.1578C>G (p.His526Gln)
gnomAD v4
6g.107634869C>TCA451581952SOBPc.2025C>T (p.His675=)
c.2178C>T (p.His726=)
c.2082C>T (p.His694=)
c.2064C>T (p.His688=)
c.1437C>T (p.His479=)
c.1248C>T (p.His416=)
c.1578C>T (p.His526=)
gnomAD v4
6g.107634869dupCA2679876768SOBPc.2025dup (p.Val676ArgfsTer?)
c.2178dup (p.Val727ArgfsTer?)
c.2082dup (p.Val695ArgfsTer?)
c.2064dup (p.Val689ArgfsTer?)
c.1437dup (p.Val480ArgfsTer?)
c.1248dup (p.Val417ArgfsTer?)
c.1578dup (p.Val527ArgfsTer?)
gnomAD v4
6g.107634870G>ACA365171774SOBPc.2026G>A (p.Val676Ile)
c.2179G>A (p.Val727Ile)
c.2083G>A (p.Val695Ile)
c.2065G>A (p.Val689Ile)
c.1438G>A (p.Val480Ile)
c.1249G>A (p.Val417Ile)
c.1579G>A (p.Val527Ile)
dbSNP gnomAD v3 gnomAD v4
6g.107634870G>CCA365171775SOBPc.2026G>C (p.Val676Leu)
c.2179G>C (p.Val727Leu)
c.2083G>C (p.Val695Leu)
c.2065G>C (p.Val689Leu)
c.1438G>C (p.Val480Leu)
c.1249G>C (p.Val417Leu)
c.1579G>C (p.Val527Leu)
gnomAD v4
6g.107634870G=CA1653939398SOBPc.2026G= (p.Val676=)
c.2179G= (p.Val727=)
c.2083G= (p.Val695=)
c.2065G= (p.Val689=)
c.1438G= (p.Val480=)
c.1249G= (p.Val417=)
c.1579G= (p.Val527=)
6g.107634870G>TCA365171776SOBPc.2026G>T (p.Val676Phe)
c.2179G>T (p.Val727Phe)
c.2083G>T (p.Val695Phe)
c.2065G>T (p.Val689Phe)
c.1438G>T (p.Val480Phe)
c.1249G>T (p.Val417Phe)
c.1579G>T (p.Val527Phe)
dbSNP gnomAD v2 gnomAD v4
6g.107634871T>ACA365171777SOBPc.2027T>A (p.Val676Asp)
c.2180T>A (p.Val727Asp)
c.2084T>A (p.Val695Asp)
c.2066T>A (p.Val689Asp)
c.1439T>A (p.Val480Asp)
c.1250T>A (p.Val417Asp)
c.1580T>A (p.Val527Asp)
gnomAD v4
6g.107634871T>CCA365171778SOBPc.2027T>C (p.Val676Ala)
c.2180T>C (p.Val727Ala)
c.2084T>C (p.Val695Ala)
c.2066T>C (p.Val689Ala)
c.1439T>C (p.Val480Ala)
c.1250T>C (p.Val417Ala)
c.1580T>C (p.Val527Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634871T>GCA365171779SOBPc.2027T>G (p.Val676Gly)
c.2180T>G (p.Val727Gly)
c.2084T>G (p.Val695Gly)
c.2066T>G (p.Val689Gly)
c.1439T>G (p.Val480Gly)
c.1250T>G (p.Val417Gly)
c.1580T>G (p.Val527Gly)
dbSNP gnomAD v3 gnomAD v4
6g.107634871T=CA1653939399SOBPc.2027T= (p.Val676=)
c.2180T= (p.Val727=)
c.2084T= (p.Val695=)
c.2066T= (p.Val689=)
c.1439T= (p.Val480=)
c.1250T= (p.Val417=)
c.1580T= (p.Val527=)
6g.107634872C>ACA451581955SOBPc.2028C>A (p.Val676=)
c.2181C>A (p.Val727=)
c.2085C>A (p.Val695=)
c.2067C>A (p.Val689=)
c.1440C>A (p.Val480=)
c.1251C>A (p.Val417=)
c.1581C>A (p.Val527=)
gnomAD v4
6g.107634872C>GCA451581956SOBPc.2028C>G (p.Val676=)
c.2181C>G (p.Val727=)
c.2085C>G (p.Val695=)
c.2067C>G (p.Val689=)
c.1440C>G (p.Val480=)
c.1251C>G (p.Val417=)
c.1581C>G (p.Val527=)
gnomAD v4
6g.107634872C>TCA451581957SOBPc.2028C>T (p.Val676=)
c.2181C>T (p.Val727=)
c.2085C>T (p.Val695=)
c.2067C>T (p.Val689=)
c.1440C>T (p.Val480=)
c.1251C>T (p.Val417=)
c.1581C>T (p.Val527=)
gnomAD v4
6g.107634873A>CCA365171782SOBPc.2029A>C (p.Lys677Gln)
c.2182A>C (p.Lys728Gln)
c.2086A>C (p.Lys696Gln)
c.2068A>C (p.Lys690Gln)
c.1441A>C (p.Lys481Gln)
c.1252A>C (p.Lys418Gln)
c.1582A>C (p.Lys528Gln)
gnomAD v4
6g.107634873A>GCA365171781SOBPc.2029A>G (p.Lys677Glu)
c.2182A>G (p.Lys728Glu)
c.2086A>G (p.Lys696Glu)
c.2068A>G (p.Lys690Glu)
c.1441A>G (p.Lys481Glu)
c.1252A>G (p.Lys418Glu)
c.1582A>G (p.Lys528Glu)
gnomAD v4
6g.107634873A>TCA365171780SOBPc.2029A>T (p.Lys677Ter)
c.2182A>T (p.Lys728Ter)
c.2086A>T (p.Lys696Ter)
c.2068A>T (p.Lys690Ter)
c.1441A>T (p.Lys481Ter)
c.1252A>T (p.Lys418Ter)
c.1582A>T (p.Lys528Ter)
6g.107634874delCA2679876769SOBPc.2030del (p.Lys677ArgfsTer?)
c.2183del (p.Lys728ArgfsTer?)
c.2087del (p.Lys696ArgfsTer?)
c.2069del (p.Lys690ArgfsTer?)
c.1442del (p.Lys481ArgfsTer?)
c.1253del (p.Lys418ArgfsTer?)
c.1583del (p.Lys528ArgfsTer?)
gnomAD v4
6g.107634874A>CCA365171783SOBPc.2030A>C (p.Lys677Thr)
c.2183A>C (p.Lys728Thr)
c.2087A>C (p.Lys696Thr)
c.2069A>C (p.Lys690Thr)
c.1442A>C (p.Lys481Thr)
c.1253A>C (p.Lys418Thr)
c.1583A>C (p.Lys528Thr)
gnomAD v4
6g.107634874A>GCA365171784SOBPc.2030A>G (p.Lys677Arg)
c.2183A>G (p.Lys728Arg)
c.2087A>G (p.Lys696Arg)
c.2069A>G (p.Lys690Arg)
c.1442A>G (p.Lys481Arg)
c.1253A>G (p.Lys418Arg)
c.1583A>G (p.Lys528Arg)
gnomAD v4
6g.107634874A>TCA365171785SOBPc.2030A>T (p.Lys677Met)
c.2183A>T (p.Lys728Met)
c.2087A>T (p.Lys696Met)
c.2069A>T (p.Lys690Met)
c.1442A>T (p.Lys481Met)
c.1253A>T (p.Lys418Met)
c.1583A>T (p.Lys528Met)
gnomAD v4
6g.107634875G>ACA451581961SOBPc.2031G>A (p.Lys677=)
c.2184G>A (p.Lys728=)
c.2088G>A (p.Lys696=)
c.2070G>A (p.Lys690=)
c.1443G>A (p.Lys481=)
c.1254G>A (p.Lys418=)
c.1584G>A (p.Lys528=)
gnomAD v4
6g.107634875G>CCA365171786SOBPc.2031G>C (p.Lys677Asn)
c.2184G>C (p.Lys728Asn)
c.2088G>C (p.Lys696Asn)
c.2070G>C (p.Lys690Asn)
c.1443G>C (p.Lys481Asn)
c.1254G>C (p.Lys418Asn)
c.1584G>C (p.Lys528Asn)
gnomAD v4
6g.107634875G>TCA365171787SOBPc.2031G>T (p.Lys677Asn)
c.2184G>T (p.Lys728Asn)
c.2088G>T (p.Lys696Asn)
c.2070G>T (p.Lys690Asn)
c.1443G>T (p.Lys481Asn)
c.1254G>T (p.Lys418Asn)
c.1584G>T (p.Lys528Asn)
gnomAD v4
6g.107634876G>ACA365171788SOBPc.2032G>A (p.Ala678Thr)
c.2185G>A (p.Ala729Thr)
c.2089G>A (p.Ala697Thr)
c.2071G>A (p.Ala691Thr)
c.1444G>A (p.Ala482Thr)
c.1255G>A (p.Ala419Thr)
c.1585G>A (p.Ala529Thr)
gnomAD v4
6g.107634876G>CCA365171789SOBPc.2032G>C (p.Ala678Pro)
c.2185G>C (p.Ala729Pro)
c.2089G>C (p.Ala697Pro)
c.2071G>C (p.Ala691Pro)
c.1444G>C (p.Ala482Pro)
c.1255G>C (p.Ala419Pro)
c.1585G>C (p.Ala529Pro)
gnomAD v4
6g.107634876G>TCA365171790SOBPc.2032G>T (p.Ala678Ser)
c.2185G>T (p.Ala729Ser)
c.2089G>T (p.Ala697Ser)
c.2071G>T (p.Ala691Ser)
c.1444G>T (p.Ala482Ser)
c.1255G>T (p.Ala419Ser)
c.1585G>T (p.Ala529Ser)
gnomAD v4
6g.107634885_107634905delCA2679876770SOBPc.2041_2061del (p.Glu681_Arg687del)
c.2194_2214del (p.Glu732_Arg738del)
c.2098_2118del (p.Glu700_Arg706del)
c.2080_2100del (p.Glu694_Arg700del)
c.1453_1473del (p.Glu485_Arg491del)
c.1264_1284del (p.Glu422_Arg428del)
c.1594_1614del (p.Glu532_Arg538del)
gnomAD v4
6g.107634877delCA2679876771SOBPc.2033del (p.Ala678GlyfsTer?)
c.2186del (p.Ala729GlyfsTer?)
c.2090del (p.Ala697GlyfsTer?)
c.2072del (p.Ala691GlyfsTer?)
c.1445del (p.Ala482GlyfsTer?)
c.1256del (p.Ala419GlyfsTer?)
c.1586del (p.Ala529GlyfsTer?)
gnomAD v4
6g.107634877C>ACA365171791SOBPc.2033C>A (p.Ala678Glu)
c.2186C>A (p.Ala729Glu)
c.2090C>A (p.Ala697Glu)
c.2072C>A (p.Ala691Glu)
c.1445C>A (p.Ala482Glu)
c.1256C>A (p.Ala419Glu)
c.1586C>A (p.Ala529Glu)
gnomAD v4
6g.107634877C>GCA365171792SOBPc.2033C>G (p.Ala678Gly)
c.2186C>G (p.Ala729Gly)
c.2090C>G (p.Ala697Gly)
c.2072C>G (p.Ala691Gly)
c.1445C>G (p.Ala482Gly)
c.1256C>G (p.Ala419Gly)
c.1586C>G (p.Ala529Gly)
gnomAD v4
6g.107634877C>TCA365171793SOBPc.2033C>T (p.Ala678Val)
c.2186C>T (p.Ala729Val)
c.2090C>T (p.Ala697Val)
c.2072C>T (p.Ala691Val)
c.1445C>T (p.Ala482Val)
c.1256C>T (p.Ala419Val)
c.1586C>T (p.Ala529Val)
gnomAD v4
6g.107634878G>ACA451581967SOBPc.2034G>A (p.Ala678=)
c.2187G>A (p.Ala729=)
c.2091G>A (p.Ala697=)
c.2073G>A (p.Ala691=)
c.1446G>A (p.Ala482=)
c.1257G>A (p.Ala419=)
c.1587G>A (p.Ala529=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634878G>CCA451581964SOBPc.2034G>C (p.Ala678=)
c.2187G>C (p.Ala729=)
c.2091G>C (p.Ala697=)
c.2073G>C (p.Ala691=)
c.1446G>C (p.Ala482=)
c.1257G>C (p.Ala419=)
c.1587G>C (p.Ala529=)
gnomAD v4
6g.107634878G=CA1653939401SOBPc.2034G= (p.Ala678=)
c.2187G= (p.Ala729=)
c.2091G= (p.Ala697=)
c.2073G= (p.Ala691=)
c.1446G= (p.Ala482=)
c.1257G= (p.Ala419=)
c.1587G= (p.Ala529=)
6g.107634878G>TCA451581966SOBPc.2034G>T (p.Ala678=)
c.2187G>T (p.Ala729=)
c.2091G>T (p.Ala697=)
c.2073G>T (p.Ala691=)
c.1446G>T (p.Ala482=)
c.1257G>T (p.Ala419=)
c.1587G>T (p.Ala529=)
gnomAD v4
6g.107634879G>ACA365171794SOBPc.2035G>A (p.Glu679Lys)
c.2188G>A (p.Glu730Lys)
c.2092G>A (p.Glu698Lys)
c.2074G>A (p.Glu692Lys)
c.1447G>A (p.Glu483Lys)
c.1258G>A (p.Glu420Lys)
c.1588G>A (p.Glu530Lys)
gnomAD v4
6g.107634879G>CCA365171795SOBPc.2035G>C (p.Glu679Gln)
c.2188G>C (p.Glu730Gln)
c.2092G>C (p.Glu698Gln)
c.2074G>C (p.Glu692Gln)
c.1447G>C (p.Glu483Gln)
c.1258G>C (p.Glu420Gln)
c.1588G>C (p.Glu530Gln)
6g.107634879G>TCA365171796SOBPc.2035G>T (p.Glu679Ter)
c.2188G>T (p.Glu730Ter)
c.2092G>T (p.Glu698Ter)
c.2074G>T (p.Glu692Ter)
c.1447G>T (p.Glu483Ter)
c.1258G>T (p.Glu420Ter)
c.1588G>T (p.Glu530Ter)
gnomAD v4
6g.107634880A>CCA365171798SOBPc.2036A>C (p.Glu679Ala)
c.2189A>C (p.Glu730Ala)
c.2093A>C (p.Glu698Ala)
c.2075A>C (p.Glu692Ala)
c.1448A>C (p.Glu483Ala)
c.1259A>C (p.Glu420Ala)
c.1589A>C (p.Glu530Ala)
gnomAD v4
6g.107634880A>GCA365171799SOBPc.2036A>G (p.Glu679Gly)
c.2189A>G (p.Glu730Gly)
c.2093A>G (p.Glu698Gly)
c.2075A>G (p.Glu692Gly)
c.1448A>G (p.Glu483Gly)
c.1259A>G (p.Glu420Gly)
c.1589A>G (p.Glu530Gly)
gnomAD v4
6g.107634880A>TCA365171797SOBPc.2036A>T (p.Glu679Val)
c.2189A>T (p.Glu730Val)
c.2093A>T (p.Glu698Val)
c.2075A>T (p.Glu692Val)
c.1448A>T (p.Glu483Val)
c.1259A>T (p.Glu420Val)
c.1589A>T (p.Glu530Val)
gnomAD v4
6g.107634881G>ACA451581974SOBPc.2037G>A (p.Glu679=)
c.2190G>A (p.Glu730=)
c.2094G>A (p.Glu698=)
c.2076G>A (p.Glu692=)
c.1449G>A (p.Glu483=)
c.1260G>A (p.Glu420=)
c.1590G>A (p.Glu530=)
gnomAD v4
6g.107634881G>CCA365171800SOBPc.2037G>C (p.Glu679Asp)
c.2190G>C (p.Glu730Asp)
c.2094G>C (p.Glu698Asp)
c.2076G>C (p.Glu692Asp)
c.1449G>C (p.Glu483Asp)
c.1260G>C (p.Glu420Asp)
c.1590G>C (p.Glu530Asp)
gnomAD v4
6g.107634881G=CA1653939403SOBPc.2037G= (p.Glu679=)
c.2190G= (p.Glu730=)
c.2094G= (p.Glu698=)
c.2076G= (p.Glu692=)
c.1449G= (p.Glu483=)
c.1260G= (p.Glu420=)
c.1590G= (p.Glu530=)
6g.107634881G>TCA365171801SOBPc.2037G>T (p.Glu679Asp)
c.2190G>T (p.Glu730Asp)
c.2094G>T (p.Glu698Asp)
c.2076G>T (p.Glu692Asp)
c.1449G>T (p.Glu483Asp)
c.1260G>T (p.Glu420Asp)
c.1590G>T (p.Glu530Asp)
dbSNP gnomAD v2 gnomAD v4
6g.107634882C>ACA365171802SOBPc.2038C>A (p.Arg680Ser)
c.2191C>A (p.Arg731Ser)
c.2095C>A (p.Arg699Ser)
c.2077C>A (p.Arg693Ser)
c.1450C>A (p.Arg484Ser)
c.1261C>A (p.Arg421Ser)
c.1591C>A (p.Arg531Ser)
gnomAD v4
6g.107634882C=CA1653939405SOBPc.2038C= (p.Arg680=)
c.2191C= (p.Arg731=)
c.2095C= (p.Arg699=)
c.2077C= (p.Arg693=)
c.1450C= (p.Arg484=)
c.1261C= (p.Arg421=)
c.1591C= (p.Arg531=)
6g.107634882C>GCA365171803SOBPc.2038C>G (p.Arg680Gly)
c.2191C>G (p.Arg731Gly)
c.2095C>G (p.Arg699Gly)
c.2077C>G (p.Arg693Gly)
c.1450C>G (p.Arg484Gly)
c.1261C>G (p.Arg421Gly)
c.1591C>G (p.Arg531Gly)
gnomAD v4
6g.107634882C>TCA365171804SOBPc.2038C>T (p.Arg680Cys)
c.2191C>T (p.Arg731Cys)
c.2095C>T (p.Arg699Cys)
c.2077C>T (p.Arg693Cys)
c.1450C>T (p.Arg484Cys)
c.1261C>T (p.Arg421Cys)
c.1591C>T (p.Arg531Cys)
dbSNP gnomAD v2 gnomAD v4
6g.107634883G>ACA365171805SOBPc.2039G>A (p.Arg680His)
c.2192G>A (p.Arg731His)
c.2096G>A (p.Arg699His)
c.2078G>A (p.Arg693His)
c.1451G>A (p.Arg484His)
c.1262G>A (p.Arg421His)
c.1592G>A (p.Arg531His)
dbSNP gnomAD v2 gnomAD v4
6g.107634883G>CCA365171806SOBPc.2039G>C (p.Arg680Pro)
c.2192G>C (p.Arg731Pro)
c.2096G>C (p.Arg699Pro)
c.2078G>C (p.Arg693Pro)
c.1451G>C (p.Arg484Pro)
c.1262G>C (p.Arg421Pro)
c.1592G>C (p.Arg531Pro)
6g.107634883G=CA1653939407SOBPc.2039G= (p.Arg680=)
c.2192G= (p.Arg731=)
c.2096G= (p.Arg699=)
c.2078G= (p.Arg693=)
c.1451G= (p.Arg484=)
c.1262G= (p.Arg421=)
c.1592G= (p.Arg531=)
6g.107634883G>TCA365171807SOBPc.2039G>T (p.Arg680Leu)
c.2192G>T (p.Arg731Leu)
c.2096G>T (p.Arg699Leu)
c.2078G>T (p.Arg693Leu)
c.1451G>T (p.Arg484Leu)
c.1262G>T (p.Arg421Leu)
c.1592G>T (p.Arg531Leu)
dbSNP gnomAD v2 gnomAD v4
6g.107634884C>ACA451581975SOBPc.2040C>A (p.Arg680=)
c.2193C>A (p.Arg731=)
c.2097C>A (p.Arg699=)
c.2079C>A (p.Arg693=)
c.1452C>A (p.Arg484=)
c.1263C>A (p.Arg421=)
c.1593C>A (p.Arg531=)
dbSNP gnomAD v2 gnomAD v4
6g.107634884C=CA1653939409SOBPc.2040C= (p.Arg680=)
c.2193C= (p.Arg731=)
c.2097C= (p.Arg699=)
c.2079C= (p.Arg693=)
c.1452C= (p.Arg484=)
c.1263C= (p.Arg421=)
c.1593C= (p.Arg531=)
6g.107634884C>GCA451581977SOBPc.2040C>G (p.Arg680=)
c.2193C>G (p.Arg731=)
c.2097C>G (p.Arg699=)
c.2079C>G (p.Arg693=)
c.1452C>G (p.Arg484=)
c.1263C>G (p.Arg421=)
c.1593C>G (p.Arg531=)
gnomAD v4
6g.107634884C>TCA451581979SOBPc.2040C>T (p.Arg680=)
c.2193C>T (p.Arg731=)
c.2097C>T (p.Arg699=)
c.2079C>T (p.Arg693=)
c.1452C>T (p.Arg484=)
c.1263C>T (p.Arg421=)
c.1593C>T (p.Arg531=)
dbSNP gnomAD v2 gnomAD v4
6g.107634885G>ACA365171808SOBPc.2041G>A (p.Glu681Lys)
c.2194G>A (p.Glu732Lys)
c.2098G>A (p.Glu700Lys)
c.2080G>A (p.Glu694Lys)
c.1453G>A (p.Glu485Lys)
c.1264G>A (p.Glu422Lys)
c.1594G>A (p.Glu532Lys)
dbSNP gnomAD v2 gnomAD v4
6g.107634885G>CCA365171809SOBPc.2041G>C (p.Glu681Gln)
c.2194G>C (p.Glu732Gln)
c.2098G>C (p.Glu700Gln)
c.2080G>C (p.Glu694Gln)
c.1453G>C (p.Glu485Gln)
c.1264G>C (p.Glu422Gln)
c.1594G>C (p.Glu532Gln)
6g.107634885G=CA1653939410SOBPc.2041G= (p.Glu681=)
c.2194G= (p.Glu732=)
c.2098G= (p.Glu700=)
c.2080G= (p.Glu694=)
c.1453G= (p.Glu485=)
c.1264G= (p.Glu422=)
c.1594G= (p.Glu532=)
6g.107634885G>TCA365171810SOBPc.2041G>T (p.Glu681Ter)
c.2194G>T (p.Glu732Ter)
c.2098G>T (p.Glu700Ter)
c.2080G>T (p.Glu694Ter)
c.1453G>T (p.Glu485Ter)
c.1264G>T (p.Glu422Ter)
c.1594G>T (p.Glu532Ter)
dbSNP gnomAD v2 gnomAD v4
6g.107634886A=CA1653939412SOBPc.2042A= (p.Glu681=)
c.2195A= (p.Glu732=)
c.2099A= (p.Glu700=)
c.2081A= (p.Glu694=)
c.1454A= (p.Glu485=)
c.1265A= (p.Glu422=)
c.1595A= (p.Glu532=)
6g.107634886A>CCA365171811SOBPc.2042A>C (p.Glu681Ala)
c.2195A>C (p.Glu732Ala)
c.2099A>C (p.Glu700Ala)
c.2081A>C (p.Glu694Ala)
c.1454A>C (p.Glu485Ala)
c.1265A>C (p.Glu422Ala)
c.1595A>C (p.Glu532Ala)
6g.107634886A>GCA365171812SOBPc.2042A>G (p.Glu681Gly)
c.2195A>G (p.Glu732Gly)
c.2099A>G (p.Glu700Gly)
c.2081A>G (p.Glu694Gly)
c.1454A>G (p.Glu485Gly)
c.1265A>G (p.Glu422Gly)
c.1595A>G (p.Glu532Gly)
dbSNP gnomAD v2 gnomAD v4
6g.107634886A>TCA365171813SOBPc.2042A>T (p.Glu681Val)
c.2195A>T (p.Glu732Val)
c.2099A>T (p.Glu700Val)
c.2081A>T (p.Glu694Val)
c.1454A>T (p.Glu485Val)
c.1265A>T (p.Glu422Val)
c.1595A>T (p.Glu532Val)

Number of alleles fetched