Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.107634725_107634751delCA2679876749SOBPc.1881_1907del (p.Gly628_Ala636del)
c.2034_2060del (p.Gly679_Ala687del)
c.1938_1964del (p.Gly647_Ala655del)
c.1920_1946del (p.Gly641_Ala649del)
c.1293_1319del (p.Gly432_Ala440del)
c.1104_1130del (p.Gly369_Ala377del)
c.1434_1460del (p.Gly479_Ala487del)
 gnomAD v4
6g.107634726_107634750delCA2509410972SOBPc.1882_1906del (p.Gly628ArgfsTer21)
c.2035_2059del (p.Gly679ArgfsTer21)
c.1939_1963del (p.Gly647ArgfsTer21)
c.1921_1945del (p.Gly641ArgfsTer21)
c.1294_1318del (p.Gly432ArgfsTer21)
c.1105_1129del (p.Gly369ArgfsTer21)
c.1435_1459del (p.Gly479ArgfsTer21)
6g.107634729_107634737dupCA2679876750SOBPc.1885_1893dup (p.Pro631_Gly632insSerProPro)
c.2038_2046dup (p.Pro682_Gly683insSerProPro)
c.1942_1950dup (p.Pro650_Gly651insSerProPro)
c.1924_1932dup (p.Pro644_Gly645insSerProPro)
c.1297_1305dup (p.Pro435_Gly436insSerProPro)
c.1108_1116dup (p.Pro372_Gly373insSerProPro)
c.1438_1446dup (p.Pro482_Gly483insSerProPro)
 dbSNP gnomAD v4
6g.107634729_107634738delinsAGCCCCCCGGCA1653939192SOBPc.1885_1894delinsAGCCCCCCGG (p.Ser629=)
c.2038_2047delinsAGCCCCCCGG (p.Ser680=)
c.1942_1951delinsAGCCCCCCGG (p.Ser648=)
c.1924_1933delinsAGCCCCCCGG (p.Ser642=)
c.1297_1306delinsAGCCCCCCGG (p.Ser433=)
c.1108_1117delinsAGCCCCCCGG (p.Ser370=)
c.1438_1447delinsAGCCCCCCGG (p.Ser480=)
6g.107634741_107634749dupCA3946607SOBPc.1897_1905dup (p.Gly635_Ala636insProProGly)
c.2050_2058dup (p.Gly686_Ala687insProProGly)
c.1954_1962dup (p.Gly654_Ala655insProProGly)
c.1936_1944dup (p.Gly648_Ala649insProProGly)
c.1309_1317dup (p.Gly439_Ala440insProProGly)
c.1120_1128dup (p.Gly376_Ala377insProProGly)
c.1450_1458dup (p.Gly486_Ala487insProProGly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634741_107634749delCA3946608SOBPc.1897_1905del (p.Pro633_Gly635del)
c.2050_2058del (p.Pro684_Gly686del)
c.1954_1962del (p.Pro652_Gly654del)
c.1936_1944del (p.Pro646_Gly648del)
c.1309_1317del (p.Pro437_Gly439del)
c.1120_1128del (p.Pro374_Gly376del)
c.1450_1458del (p.Pro484_Gly486del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634736dupCA569564373SOBPc.1892dup (p.Ala636ArgfsTer?)
c.2045dup (p.Ala687ArgfsTer?)
c.1949dup (p.Ala655ArgfsTer?)
c.1931dup (p.Ala649ArgfsTer?)
c.1304dup (p.Ala440ArgfsTer?)
c.1115dup (p.Ala377ArgfsTer?)
c.1445dup (p.Ala487ArgfsTer?)
 gnomAD v2 gnomAD v4
6g.107634735_107634736dupCA2772523049SOBPc.1891_1892dup (p.Gly632ArgfsTer26)
c.2044_2045dup (p.Gly683ArgfsTer26)
c.1948_1949dup (p.Gly651ArgfsTer26)
c.1930_1931dup (p.Gly645ArgfsTer26)
c.1303_1304dup (p.Gly436ArgfsTer26)
c.1114_1115dup (p.Gly373ArgfsTer26)
c.1444_1445dup (p.Gly483ArgfsTer26)
6g.107634736delCA569564374SOBPc.1892del (p.Pro631ArgfsTer26)
c.2045del (p.Pro682ArgfsTer26)
c.1949del (p.Pro650ArgfsTer26)
c.1931del (p.Pro644ArgfsTer26)
c.1304del (p.Pro435ArgfsTer26)
c.1115del (p.Pro372ArgfsTer26)
c.1445del (p.Pro482ArgfsTer26)
 gnomAD v2 gnomAD v4
6g.107634735_107634736delCA2679876751SOBPc.1891_1892del (p.Pro631GlyfsTer?)
c.2044_2045del (p.Pro682GlyfsTer?)
c.1948_1949del (p.Pro650GlyfsTer?)
c.1930_1931del (p.Pro644GlyfsTer?)
c.1303_1304del (p.Pro435GlyfsTer?)
c.1114_1115del (p.Pro372GlyfsTer?)
c.1444_1445del (p.Pro482GlyfsTer?)
 gnomAD v4
6g.107634736_107634745delCA2679876752SOBPc.1892_1901del (p.Pro631ArgfsTer23)
c.2045_2054del (p.Pro682ArgfsTer23)
c.1949_1958del (p.Pro650ArgfsTer23)
c.1931_1940del (p.Pro644ArgfsTer23)
c.1304_1313del (p.Pro435ArgfsTer23)
c.1115_1124del (p.Pro372ArgfsTer23)
c.1445_1454del (p.Pro482ArgfsTer23)
 gnomAD v4
6g.107634733C>ACA365171489SOBPc.1889C>A (p.Pro630His)
c.2042C>A (p.Pro681His)
c.1946C>A (p.Pro649His)
c.1928C>A (p.Pro643His)
c.1301C>A (p.Pro434His)
c.1112C>A (p.Pro371His)
c.1442C>A (p.Pro481His)
 gnomAD v4
6g.107634733C>GCA365171490SOBPc.1889C>G (p.Pro630Arg)
c.2042C>G (p.Pro681Arg)
c.1946C>G (p.Pro649Arg)
c.1928C>G (p.Pro643Arg)
c.1301C>G (p.Pro434Arg)
c.1112C>G (p.Pro371Arg)
c.1442C>G (p.Pro481Arg)
6g.107634733C>TCA365171491SOBPc.1889C>T (p.Pro630Leu)
c.2042C>T (p.Pro681Leu)
c.1946C>T (p.Pro649Leu)
c.1928C>T (p.Pro643Leu)
c.1301C>T (p.Pro434Leu)
c.1112C>T (p.Pro371Leu)
c.1442C>T (p.Pro481Leu)
 gnomAD v4
6g.107634734C>ACA451581686SOBPc.1890C>A (p.Pro630=)
c.2043C>A (p.Pro681=)
c.1947C>A (p.Pro649=)
c.1929C>A (p.Pro643=)
c.1302C>A (p.Pro434=)
c.1113C>A (p.Pro371=)
c.1443C>A (p.Pro481=)
 gnomAD v4
6g.107634734C=CA1653939211SOBPc.1890C= (p.Pro630=)
c.2043C= (p.Pro681=)
c.1947C= (p.Pro649=)
c.1929C= (p.Pro643=)
c.1302C= (p.Pro434=)
c.1113C= (p.Pro371=)
c.1443C= (p.Pro481=)
6g.107634734C>GCA451581684SOBPc.1890C>G (p.Pro630=)
c.2043C>G (p.Pro681=)
c.1947C>G (p.Pro649=)
c.1929C>G (p.Pro643=)
c.1302C>G (p.Pro434=)
c.1113C>G (p.Pro371=)
c.1443C>G (p.Pro481=)
6g.107634734C>TCA451581683SOBPc.1890C>T (p.Pro630=)
c.2043C>T (p.Pro681=)
c.1947C>T (p.Pro649=)
c.1929C>T (p.Pro643=)
c.1302C>T (p.Pro434=)
c.1113C>T (p.Pro371=)
c.1443C>T (p.Pro481=)
 dbSNP gnomAD v2 gnomAD v4
6g.107634735C>ACA365171494SOBPc.1891C>A (p.Pro631Thr)
c.2044C>A (p.Pro682Thr)
c.1948C>A (p.Pro650Thr)
c.1930C>A (p.Pro644Thr)
c.1303C>A (p.Pro435Thr)
c.1114C>A (p.Pro372Thr)
c.1444C>A (p.Pro482Thr)
 gnomAD v4
6g.107634735C=CA1653939213SOBPc.1891C= (p.Pro631=)
c.2044C= (p.Pro682=)
c.1948C= (p.Pro650=)
c.1930C= (p.Pro644=)
c.1303C= (p.Pro435=)
c.1114C= (p.Pro372=)
c.1444C= (p.Pro482=)
6g.107634735C>GCA365171493SOBPc.1891C>G (p.Pro631Ala)
c.2044C>G (p.Pro682Ala)
c.1948C>G (p.Pro650Ala)
c.1930C>G (p.Pro644Ala)
c.1303C>G (p.Pro435Ala)
c.1114C>G (p.Pro372Ala)
c.1444C>G (p.Pro482Ala)
6g.107634735C>TCA365171492SOBPc.1891C>T (p.Pro631Ser)
c.2044C>T (p.Pro682Ser)
c.1948C>T (p.Pro650Ser)
c.1930C>T (p.Pro644Ser)
c.1303C>T (p.Pro435Ser)
c.1114C>T (p.Pro372Ser)
c.1444C>T (p.Pro482Ser)
 dbSNP gnomAD v2 gnomAD v4
6g.107634736C>ACA365171497SOBPc.1892C>A (p.Pro631Gln)
c.2045C>A (p.Pro682Gln)
c.1949C>A (p.Pro650Gln)
c.1931C>A (p.Pro644Gln)
c.1304C>A (p.Pro435Gln)
c.1115C>A (p.Pro372Gln)
c.1445C>A (p.Pro482Gln)
 gnomAD v4
6g.107634736C=CA1653939215SOBPc.1892C= (p.Pro631=)
c.2045C= (p.Pro682=)
c.1949C= (p.Pro650=)
c.1931C= (p.Pro644=)
c.1304C= (p.Pro435=)
c.1115C= (p.Pro372=)
c.1445C= (p.Pro482=)
6g.107634736C>GCA365171495SOBPc.1892C>G (p.Pro631Arg)
c.2045C>G (p.Pro682Arg)
c.1949C>G (p.Pro650Arg)
c.1931C>G (p.Pro644Arg)
c.1304C>G (p.Pro435Arg)
c.1115C>G (p.Pro372Arg)
c.1445C>G (p.Pro482Arg)
 dbSNP gnomAD v4
6g.107634736C>TCA365171496SOBPc.1892C>T (p.Pro631Leu)
c.2045C>T (p.Pro682Leu)
c.1949C>T (p.Pro650Leu)
c.1931C>T (p.Pro644Leu)
c.1304C>T (p.Pro435Leu)
c.1115C>T (p.Pro372Leu)
c.1445C>T (p.Pro482Leu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
6g.107634737G>ACA451581698SOBPc.1893G>A (p.Pro631=)
c.2046G>A (p.Pro682=)
c.1950G>A (p.Pro650=)
c.1932G>A (p.Pro644=)
c.1305G>A (p.Pro435=)
c.1116G>A (p.Pro372=)
c.1446G>A (p.Pro482=)
 ClinVar dbSNP gnomAD v4
6g.107634737G>CCA451581699SOBPc.1893G>C (p.Pro631=)
c.2046G>C (p.Pro682=)
c.1950G>C (p.Pro650=)
c.1932G>C (p.Pro644=)
c.1305G>C (p.Pro435=)
c.1116G>C (p.Pro372=)
c.1446G>C (p.Pro482=)
 gnomAD v4
6g.107634737G=CA1653939217SOBPc.1893G= (p.Pro631=)
c.2046G= (p.Pro682=)
c.1950G= (p.Pro650=)
c.1932G= (p.Pro644=)
c.1305G= (p.Pro435=)
c.1116G= (p.Pro372=)
c.1446G= (p.Pro482=)
6g.107634737G>TCA451581700SOBPc.1893G>T (p.Pro631=)
c.2046G>T (p.Pro682=)
c.1950G>T (p.Pro650=)
c.1932G>T (p.Pro644=)
c.1305G>T (p.Pro435=)
c.1116G>T (p.Pro372=)
c.1446G>T (p.Pro482=)
 dbSNP gnomAD v4
6g.107634739delCA2679876753SOBPc.1895del (p.Gly632AlafsTer25)
c.2048del (p.Gly683AlafsTer25)
c.1952del (p.Gly651AlafsTer25)
c.1934del (p.Gly645AlafsTer25)
c.1307del (p.Gly436AlafsTer25)
c.1118del (p.Gly373AlafsTer25)
c.1448del (p.Gly483AlafsTer25)
 gnomAD v4
6g.107634738G>ACA365171498SOBPc.1894G>A (p.Gly632Ser)
c.2047G>A (p.Gly683Ser)
c.1951G>A (p.Gly651Ser)
c.1933G>A (p.Gly645Ser)
c.1306G>A (p.Gly436Ser)
c.1117G>A (p.Gly373Ser)
c.1447G>A (p.Gly483Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634738G>CCA365171499SOBPc.1894G>C (p.Gly632Arg)
c.2047G>C (p.Gly683Arg)
c.1951G>C (p.Gly651Arg)
c.1933G>C (p.Gly645Arg)
c.1306G>C (p.Gly436Arg)
c.1117G>C (p.Gly373Arg)
c.1447G>C (p.Gly483Arg)
6g.107634738G=CA1653939219SOBPc.1894G= (p.Gly632=)
c.2047G= (p.Gly683=)
c.1951G= (p.Gly651=)
c.1933G= (p.Gly645=)
c.1306G= (p.Gly436=)
c.1117G= (p.Gly373=)
c.1447G= (p.Gly483=)
6g.107634738G>TCA365171500SOBPc.1894G>T (p.Gly632Cys)
c.2047G>T (p.Gly683Cys)
c.1951G>T (p.Gly651Cys)
c.1933G>T (p.Gly645Cys)
c.1306G>T (p.Gly436Cys)
c.1117G>T (p.Gly373Cys)
c.1447G>T (p.Gly483Cys)
 gnomAD v4
6g.107634739G>ACA365171501SOBPc.1895G>A (p.Gly632Asp)
c.2048G>A (p.Gly683Asp)
c.1952G>A (p.Gly651Asp)
c.1934G>A (p.Gly645Asp)
c.1307G>A (p.Gly436Asp)
c.1118G>A (p.Gly373Asp)
c.1448G>A (p.Gly483Asp)
 dbSNP gnomAD v3 gnomAD v4
6g.107634739G>CCA365171502SOBPc.1895G>C (p.Gly632Ala)
c.2048G>C (p.Gly683Ala)
c.1952G>C (p.Gly651Ala)
c.1934G>C (p.Gly645Ala)
c.1307G>C (p.Gly436Ala)
c.1118G>C (p.Gly373Ala)
c.1448G>C (p.Gly483Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634739G=CA1653939222SOBPc.1895G= (p.Gly632=)
c.2048G= (p.Gly683=)
c.1952G= (p.Gly651=)
c.1934G= (p.Gly645=)
c.1307G= (p.Gly436=)
c.1118G= (p.Gly373=)
c.1448G= (p.Gly483=)
6g.107634739G>TCA365171503SOBPc.1895G>T (p.Gly632Val)
c.2048G>T (p.Gly683Val)
c.1952G>T (p.Gly651Val)
c.1934G>T (p.Gly645Val)
c.1307G>T (p.Gly436Val)
c.1118G>T (p.Gly373Val)
c.1448G>T (p.Gly483Val)
6g.107634739_107634745delinsGCCCCCCCA1653939224SOBPc.1895_1901delinsGCCCCCC (p.Gly632=)
c.2048_2054delinsGCCCCCC (p.Gly683=)
c.1952_1958delinsGCCCCCC (p.Gly651=)
c.1934_1940delinsGCCCCCC (p.Gly645=)
c.1307_1313delinsGCCCCCC (p.Gly436=)
c.1118_1124delinsGCCCCCC (p.Gly373=)
c.1448_1454delinsGCCCCCC (p.Gly483=)
6g.107634740C>ACA451581704SOBPc.1896C>A (p.Gly632=)
c.2049C>A (p.Gly683=)
c.1953C>A (p.Gly651=)
c.1935C>A (p.Gly645=)
c.1308C>A (p.Gly436=)
c.1119C>A (p.Gly373=)
c.1449C>A (p.Gly483=)
 gnomAD v4
6g.107634740C=CA1653939232SOBPc.1896C= (p.Gly632=)
c.2049C= (p.Gly683=)
c.1953C= (p.Gly651=)
c.1935C= (p.Gly645=)
c.1308C= (p.Gly436=)
c.1119C= (p.Gly373=)
c.1449C= (p.Gly483=)
6g.107634740C>GCA451581705SOBPc.1896C>G (p.Gly632=)
c.2049C>G (p.Gly683=)
c.1953C>G (p.Gly651=)
c.1935C>G (p.Gly645=)
c.1308C>G (p.Gly436=)
c.1119C>G (p.Gly373=)
c.1449C>G (p.Gly483=)
 gnomAD v4
6g.107634740C>TCA207649SOBPc.1896C>T (p.Gly632=)
c.2049C>T (p.Gly683=)
c.1953C>T (p.Gly651=)
c.1935C>T (p.Gly645=)
c.1308C>T (p.Gly436=)
c.1119C>T (p.Gly373=)
c.1449C>T (p.Gly483=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634740_107634745delCA917829048SOBPc.1896_1901del (p.Pro633_Pro634del)
c.2049_2054del (p.Pro684_Pro685del)
c.1953_1958del (p.Pro652_Pro653del)
c.1935_1940del (p.Pro646_Pro647del)
c.1308_1313del (p.Pro437_Pro438del)
c.1119_1124del (p.Pro374_Pro375del)
c.1449_1454del (p.Pro484_Pro485del)
 dbSNP gnomAD v4
6g.107634745dupCA569564376SOBPc.1901dup (p.Ala636ArgfsTer?)
c.2054dup (p.Ala687ArgfsTer?)
c.1958dup (p.Ala655ArgfsTer?)
c.1940dup (p.Ala649ArgfsTer?)
c.1313dup (p.Ala440ArgfsTer?)
c.1124dup (p.Ala377ArgfsTer?)
c.1454dup (p.Ala487ArgfsTer?)
 gnomAD v2 gnomAD v4
6g.107634744_107634745dupCA2772523061SOBPc.1900_1901dup (p.Gly635ArgfsTer23)
c.2053_2054dup (p.Gly686ArgfsTer23)
c.1957_1958dup (p.Gly654ArgfsTer23)
c.1939_1940dup (p.Gly648ArgfsTer23)
c.1312_1313dup (p.Gly439ArgfsTer23)
c.1123_1124dup (p.Gly376ArgfsTer23)
c.1453_1454dup (p.Gly486ArgfsTer23)
6g.107634745delCA569564375SOBPc.1901del (p.Pro634ArgfsTer23)
c.2054del (p.Pro685ArgfsTer23)
c.1958del (p.Pro653ArgfsTer23)
c.1940del (p.Pro647ArgfsTer23)
c.1313del (p.Pro438ArgfsTer23)
c.1124del (p.Pro375ArgfsTer23)
c.1454del (p.Pro485ArgfsTer23)
 gnomAD v2 gnomAD v4
6g.107634741C>ACA3946609SOBPc.1897C>A (p.Pro633Thr)
c.2050C>A (p.Pro684Thr)
c.1954C>A (p.Pro652Thr)
c.1936C>A (p.Pro646Thr)
c.1309C>A (p.Pro437Thr)
c.1120C>A (p.Pro374Thr)
c.1450C>A (p.Pro484Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634741C=CA1653939237SOBPc.1897C= (p.Pro633=)
c.2050C= (p.Pro684=)
c.1954C= (p.Pro652=)
c.1936C= (p.Pro646=)
c.1309C= (p.Pro437=)
c.1120C= (p.Pro374=)
c.1450C= (p.Pro484=)
6g.107634741C>GCA365171504SOBPc.1897C>G (p.Pro633Ala)
c.2050C>G (p.Pro684Ala)
c.1954C>G (p.Pro652Ala)
c.1936C>G (p.Pro646Ala)
c.1309C>G (p.Pro437Ala)
c.1120C>G (p.Pro374Ala)
c.1450C>G (p.Pro484Ala)
6g.107634741C>TCA145013888SOBPc.1897C>T (p.Pro633Ser)
c.2050C>T (p.Pro684Ser)
c.1954C>T (p.Pro652Ser)
c.1936C>T (p.Pro646Ser)
c.1309C>T (p.Pro437Ser)
c.1120C>T (p.Pro374Ser)
c.1450C>T (p.Pro484Ser)
 dbSNP gnomAD v2 gnomAD v4
6g.107634742C>ACA365171507SOBPc.1898C>A (p.Pro633His)
c.2051C>A (p.Pro684His)
c.1955C>A (p.Pro652His)
c.1937C>A (p.Pro646His)
c.1310C>A (p.Pro437His)
c.1121C>A (p.Pro374His)
c.1451C>A (p.Pro484His)
 gnomAD v4
6g.107634742C=CA1653939241SOBPc.1898C= (p.Pro633=)
c.2051C= (p.Pro684=)
c.1955C= (p.Pro652=)
c.1937C= (p.Pro646=)
c.1310C= (p.Pro437=)
c.1121C= (p.Pro374=)
c.1451C= (p.Pro484=)
6g.107634742C>GCA365171506SOBPc.1898C>G (p.Pro633Arg)
c.2051C>G (p.Pro684Arg)
c.1955C>G (p.Pro652Arg)
c.1937C>G (p.Pro646Arg)
c.1310C>G (p.Pro437Arg)
c.1121C>G (p.Pro374Arg)
c.1451C>G (p.Pro484Arg)
 gnomAD v4
6g.107634742C>TCA365171505SOBPc.1898C>T (p.Pro633Leu)
c.2051C>T (p.Pro684Leu)
c.1955C>T (p.Pro652Leu)
c.1937C>T (p.Pro646Leu)
c.1310C>T (p.Pro437Leu)
c.1121C>T (p.Pro374Leu)
c.1451C>T (p.Pro484Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634743_107634751delCA451581707SOBPc.1899_1907del (p.Pro634_Ala636del)
c.2052_2060del (p.Pro685_Ala687del)
c.1956_1964del (p.Pro653_Ala655del)
c.1938_1946del (p.Pro647_Ala649del)
c.1311_1319del (p.Pro438_Ala440del)
c.1122_1130del (p.Pro375_Ala377del)
c.1452_1460del (p.Pro485_Ala487del)
6g.107634743C>ACA451581709SOBPc.1899C>A (p.Pro633=)
c.2052C>A (p.Pro684=)
c.1956C>A (p.Pro652=)
c.1938C>A (p.Pro646=)
c.1311C>A (p.Pro437=)
c.1122C>A (p.Pro374=)
c.1452C>A (p.Pro484=)
 gnomAD v4
6g.107634743C=CA1653939243SOBPc.1899C= (p.Pro633=)
c.2052C= (p.Pro684=)
c.1956C= (p.Pro652=)
c.1938C= (p.Pro646=)
c.1311C= (p.Pro437=)
c.1122C= (p.Pro374=)
c.1452C= (p.Pro484=)
6g.107634743C>GCA451581711SOBPc.1899C>G (p.Pro633=)
c.2052C>G (p.Pro684=)
c.1956C>G (p.Pro652=)
c.1938C>G (p.Pro646=)
c.1311C>G (p.Pro437=)
c.1122C>G (p.Pro374=)
c.1452C>G (p.Pro484=)
 dbSNP gnomAD v4
6g.107634743C>TCA451581713SOBPc.1899C>T (p.Pro633=)
c.2052C>T (p.Pro684=)
c.1956C>T (p.Pro652=)
c.1938C>T (p.Pro646=)
c.1311C>T (p.Pro437=)
c.1122C>T (p.Pro374=)
c.1452C>T (p.Pro484=)
 gnomAD v4
6g.107634744C>ACA365171508SOBPc.1900C>A (p.Pro634Thr)
c.2053C>A (p.Pro685Thr)
c.1957C>A (p.Pro653Thr)
c.1939C>A (p.Pro647Thr)
c.1312C>A (p.Pro438Thr)
c.1123C>A (p.Pro375Thr)
c.1453C>A (p.Pro485Thr)
 gnomAD v4
6g.107634744C=CA1653939246SOBPc.1900C= (p.Pro634=)
c.2053C= (p.Pro685=)
c.1957C= (p.Pro653=)
c.1939C= (p.Pro647=)
c.1312C= (p.Pro438=)
c.1123C= (p.Pro375=)
c.1453C= (p.Pro485=)
6g.107634744C>GCA365171509SOBPc.1900C>G (p.Pro634Ala)
c.2053C>G (p.Pro685Ala)
c.1957C>G (p.Pro653Ala)
c.1939C>G (p.Pro647Ala)
c.1312C>G (p.Pro438Ala)
c.1123C>G (p.Pro375Ala)
c.1453C>G (p.Pro485Ala)
 gnomAD v4
6g.107634744C>TCA365171510SOBPc.1900C>T (p.Pro634Ser)
c.2053C>T (p.Pro685Ser)
c.1957C>T (p.Pro653Ser)
c.1939C>T (p.Pro647Ser)
c.1312C>T (p.Pro438Ser)
c.1123C>T (p.Pro375Ser)
c.1453C>T (p.Pro485Ser)
 dbSNP gnomAD v3 gnomAD v4
6g.107634745C>ACA365171511SOBPc.1901C>A (p.Pro634Gln)
c.2054C>A (p.Pro685Gln)
c.1958C>A (p.Pro653Gln)
c.1940C>A (p.Pro647Gln)
c.1313C>A (p.Pro438Gln)
c.1124C>A (p.Pro375Gln)
c.1454C>A (p.Pro485Gln)
 gnomAD v4
6g.107634745C=CA1653939249SOBPc.1901C= (p.Pro634=)
c.2054C= (p.Pro685=)
c.1958C= (p.Pro653=)
c.1940C= (p.Pro647=)
c.1313C= (p.Pro438=)
c.1124C= (p.Pro375=)
c.1454C= (p.Pro485=)
6g.107634745C>GCA145013891SOBPc.1901C>G (p.Pro634Arg)
c.2054C>G (p.Pro685Arg)
c.1958C>G (p.Pro653Arg)
c.1940C>G (p.Pro647Arg)
c.1313C>G (p.Pro438Arg)
c.1124C>G (p.Pro375Arg)
c.1454C>G (p.Pro485Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634745C>TCA365171512SOBPc.1901C>T (p.Pro634Leu)
c.2054C>T (p.Pro685Leu)
c.1958C>T (p.Pro653Leu)
c.1940C>T (p.Pro647Leu)
c.1313C>T (p.Pro438Leu)
c.1124C>T (p.Pro375Leu)
c.1454C>T (p.Pro485Leu)
 dbSNP gnomAD v4
6g.107634746G>ACA451581716SOBPc.1902G>A (p.Pro634=)
c.2055G>A (p.Pro685=)
c.1959G>A (p.Pro653=)
c.1941G>A (p.Pro647=)
c.1314G>A (p.Pro438=)
c.1125G>A (p.Pro375=)
c.1455G>A (p.Pro485=)
 dbSNP gnomAD v4
6g.107634746G>CCA451581717SOBPc.1902G>C (p.Pro634=)
c.2055G>C (p.Pro685=)
c.1959G>C (p.Pro653=)
c.1941G>C (p.Pro647=)
c.1314G>C (p.Pro438=)
c.1125G>C (p.Pro375=)
c.1455G>C (p.Pro485=)
 dbSNP gnomAD v3 gnomAD v4
6g.107634746G=CA1653939252SOBPc.1902G= (p.Pro634=)
c.2055G= (p.Pro685=)
c.1959G= (p.Pro653=)
c.1941G= (p.Pro647=)
c.1314G= (p.Pro438=)
c.1125G= (p.Pro375=)
c.1455G= (p.Pro485=)
6g.107634746G>TCA451581719SOBPc.1902G>T (p.Pro634=)
c.2055G>T (p.Pro685=)
c.1959G>T (p.Pro653=)
c.1941G>T (p.Pro647=)
c.1314G>T (p.Pro438=)
c.1125G>T (p.Pro375=)
c.1455G>T (p.Pro485=)
 gnomAD v4
6g.107634748delCA2679876754SOBPc.1904del (p.Gly635AlafsTer22)
c.2057del (p.Gly686AlafsTer22)
c.1961del (p.Gly654AlafsTer22)
c.1943del (p.Gly648AlafsTer22)
c.1316del (p.Gly439AlafsTer22)
c.1127del (p.Gly376AlafsTer22)
c.1457del (p.Gly486AlafsTer22)
 gnomAD v4
6g.107634746_107634750delCA2679876755SOBPc.1902_1906del (p.Ala636ArgfsTer?)
c.2055_2059del (p.Ala687ArgfsTer?)
c.1959_1963del (p.Ala655ArgfsTer?)
c.1941_1945del (p.Ala649ArgfsTer?)
c.1314_1318del (p.Ala440ArgfsTer?)
c.1125_1129del (p.Ala377ArgfsTer?)
c.1455_1459del (p.Ala487ArgfsTer?)
 gnomAD v4
6g.107634746_107634755delinsGGGCGCGGGCCA1653939251SOBPc.1902_1911delinsGGGCGCGGGC (p.Pro634=)
c.2055_2064delinsGGGCGCGGGC (p.Pro685=)
c.1959_1968delinsGGGCGCGGGC (p.Pro653=)
c.1941_1950delinsGGGCGCGGGC (p.Pro647=)
c.1314_1323delinsGGGCGCGGGC (p.Pro438=)
c.1125_1134delinsGGGCGCGGGC (p.Pro375=)
c.1455_1464delinsGGGCGCGGGC (p.Pro485=)
6g.107634747G>ACA365171513SOBPc.1903G>A (p.Gly635Ser)
c.2056G>A (p.Gly686Ser)
c.1960G>A (p.Gly654Ser)
c.1942G>A (p.Gly648Ser)
c.1315G>A (p.Gly439Ser)
c.1126G>A (p.Gly376Ser)
c.1456G>A (p.Gly486Ser)
 dbSNP gnomAD v4
6g.107634747G>CCA365171514SOBPc.1903G>C (p.Gly635Arg)
c.2056G>C (p.Gly686Arg)
c.1960G>C (p.Gly654Arg)
c.1942G>C (p.Gly648Arg)
c.1315G>C (p.Gly439Arg)
c.1126G>C (p.Gly376Arg)
c.1456G>C (p.Gly486Arg)
 dbSNP gnomAD v4
6g.107634747G=CA1653939255SOBPc.1903G= (p.Gly635=)
c.2056G= (p.Gly686=)
c.1960G= (p.Gly654=)
c.1942G= (p.Gly648=)
c.1315G= (p.Gly439=)
c.1126G= (p.Gly376=)
c.1456G= (p.Gly486=)
6g.107634747G>TCA365171515SOBPc.1903G>T (p.Gly635Cys)
c.2056G>T (p.Gly686Cys)
c.1960G>T (p.Gly654Cys)
c.1942G>T (p.Gly648Cys)
c.1315G>T (p.Gly439Cys)
c.1126G>T (p.Gly376Cys)
c.1456G>T (p.Gly486Cys)
 dbSNP gnomAD v4
6g.107634750_107634758delCA917829049SOBPc.1906_1914del (p.Ala636_Gly638del)
c.2059_2067del (p.Ala687_Gly689del)
c.1963_1971del (p.Ala655_Gly657del)
c.1945_1953del (p.Ala649_Gly651del)
c.1318_1326del (p.Ala440_Gly442del)
c.1129_1137del (p.Ala377_Gly379del)
c.1459_1467del (p.Ala487_Gly489del)
 dbSNP gnomAD v4
6g.107634748G>ACA365171516SOBPc.1904G>A (p.Gly635Asp)
c.2057G>A (p.Gly686Asp)
c.1961G>A (p.Gly654Asp)
c.1943G>A (p.Gly648Asp)
c.1316G>A (p.Gly439Asp)
c.1127G>A (p.Gly376Asp)
c.1457G>A (p.Gly486Asp)
 gnomAD v4
6g.107634748G>CCA365171517SOBPc.1904G>C (p.Gly635Ala)
c.2057G>C (p.Gly686Ala)
c.1961G>C (p.Gly654Ala)
c.1943G>C (p.Gly648Ala)
c.1316G>C (p.Gly439Ala)
c.1127G>C (p.Gly376Ala)
c.1457G>C (p.Gly486Ala)
6g.107634748G>TCA365171518SOBPc.1904G>T (p.Gly635Val)
c.2057G>T (p.Gly686Val)
c.1961G>T (p.Gly654Val)
c.1943G>T (p.Gly648Val)
c.1316G>T (p.Gly439Val)
c.1127G>T (p.Gly376Val)
c.1457G>T (p.Gly486Val)
 gnomAD v4
6g.107634749C>ACA451581725SOBPc.1905C>A (p.Gly635=)
c.2058C>A (p.Gly686=)
c.1962C>A (p.Gly654=)
c.1944C>A (p.Gly648=)
c.1317C>A (p.Gly439=)
c.1128C>A (p.Gly376=)
c.1458C>A (p.Gly486=)
 gnomAD v4
6g.107634749C=CA1653939260SOBPc.1905C= (p.Gly635=)
c.2058C= (p.Gly686=)
c.1962C= (p.Gly654=)
c.1944C= (p.Gly648=)
c.1317C= (p.Gly439=)
c.1128C= (p.Gly376=)
c.1458C= (p.Gly486=)
6g.107634749C>GCA451581726SOBPc.1905C>G (p.Gly635=)
c.2058C>G (p.Gly686=)
c.1962C>G (p.Gly654=)
c.1944C>G (p.Gly648=)
c.1317C>G (p.Gly439=)
c.1128C>G (p.Gly376=)
c.1458C>G (p.Gly486=)
 dbSNP gnomAD v2 gnomAD v4
6g.107634749C>TCA231524SOBPc.1905C>T (p.Gly635=)
c.2058C>T (p.Gly686=)
c.1962C>T (p.Gly654=)
c.1944C>T (p.Gly648=)
c.1317C>T (p.Gly439=)
c.1128C>T (p.Gly376=)
c.1458C>T (p.Gly486=)
 ClinVar dbSNP gnomAD v4
6g.107634749_107634750insCCCCA2679876756SOBPc.1905_1906insCCC (p.Gly635_Ala636insPro)
c.2058_2059insCCC (p.Gly686_Ala687insPro)
c.1962_1963insCCC (p.Gly654_Ala655insPro)
c.1944_1945insCCC (p.Gly648_Ala649insPro)
c.1317_1318insCCC (p.Gly439_Ala440insPro)
c.1128_1129insCCC (p.Gly376_Ala377insPro)
c.1458_1459insCCC (p.Gly486_Ala487insPro)
 gnomAD v4
6g.107634750G>ACA365171520SOBPc.1906G>A (p.Ala636Thr)
c.2059G>A (p.Ala687Thr)
c.1963G>A (p.Ala655Thr)
c.1945G>A (p.Ala649Thr)
c.1318G>A (p.Ala440Thr)
c.1129G>A (p.Ala377Thr)
c.1459G>A (p.Ala487Thr)
 gnomAD v4
6g.107634750G>CCA365171521SOBPc.1906G>C (p.Ala636Pro)
c.2059G>C (p.Ala687Pro)
c.1963G>C (p.Ala655Pro)
c.1945G>C (p.Ala649Pro)
c.1318G>C (p.Ala440Pro)
c.1129G>C (p.Ala377Pro)
c.1459G>C (p.Ala487Pro)
 gnomAD v4 COSMIC
6g.107634750G>TCA365171519SOBPc.1906G>T (p.Ala636Ser)
c.2059G>T (p.Ala687Ser)
c.1963G>T (p.Ala655Ser)
c.1945G>T (p.Ala649Ser)
c.1318G>T (p.Ala440Ser)
c.1129G>T (p.Ala377Ser)
c.1459G>T (p.Ala487Ser)
 gnomAD v4
6g.107634751C>ACA365171522SOBPc.1907C>A (p.Ala636Glu)
c.2060C>A (p.Ala687Glu)
c.1964C>A (p.Ala655Glu)
c.1946C>A (p.Ala649Glu)
c.1319C>A (p.Ala440Glu)
c.1130C>A (p.Ala377Glu)
c.1460C>A (p.Ala487Glu)
 gnomAD v4
6g.107634751C>GCA365171523SOBPc.1907C>G (p.Ala636Gly)
c.2060C>G (p.Ala687Gly)
c.1964C>G (p.Ala655Gly)
c.1946C>G (p.Ala649Gly)
c.1319C>G (p.Ala440Gly)
c.1130C>G (p.Ala377Gly)
c.1460C>G (p.Ala487Gly)
 gnomAD v4
6g.107634751C>TCA365171524SOBPc.1907C>T (p.Ala636Val)
c.2060C>T (p.Ala687Val)
c.1964C>T (p.Ala655Val)
c.1946C>T (p.Ala649Val)
c.1319C>T (p.Ala440Val)
c.1130C>T (p.Ala377Val)
c.1460C>T (p.Ala487Val)
 gnomAD v4
6g.107634752G>ACA451581737SOBPc.1908G>A (p.Ala636=)
c.2061G>A (p.Ala687=)
c.1965G>A (p.Ala655=)
c.1947G>A (p.Ala649=)
c.1320G>A (p.Ala440=)
c.1131G>A (p.Ala377=)
c.1461G>A (p.Ala487=)
 dbSNP gnomAD v4
6g.107634752G>CCA451581736SOBPc.1908G>C (p.Ala636=)
c.2061G>C (p.Ala687=)
c.1965G>C (p.Ala655=)
c.1947G>C (p.Ala649=)
c.1320G>C (p.Ala440=)
c.1131G>C (p.Ala377=)
c.1461G>C (p.Ala487=)
 gnomAD v4
6g.107634752G=CA1653939264SOBPc.1908G= (p.Ala636=)
c.2061G= (p.Ala687=)
c.1965G= (p.Ala655=)
c.1947G= (p.Ala649=)
c.1320G= (p.Ala440=)
c.1131G= (p.Ala377=)
c.1461G= (p.Ala487=)
6g.107634752G>TCA451581735SOBPc.1908G>T (p.Ala636=)
c.2061G>T (p.Ala687=)
c.1965G>T (p.Ala655=)
c.1947G>T (p.Ala649=)
c.1320G>T (p.Ala440=)
c.1131G>T (p.Ala377=)
c.1461G>T (p.Ala487=)
 gnomAD v4
6g.107634754delCA2772523076SOBPc.1910del (p.Gly637AlafsTer20)
c.2063del (p.Gly688AlafsTer20)
c.1967del (p.Gly656AlafsTer20)
c.1949del (p.Gly650AlafsTer20)
c.1322del (p.Gly441AlafsTer20)
c.1133del (p.Gly378AlafsTer20)
c.1463del (p.Gly488AlafsTer20)
6g.107634753G>ACA365171525SOBPc.1909G>A (p.Gly637Ser)
c.2062G>A (p.Gly688Ser)
c.1966G>A (p.Gly656Ser)
c.1948G>A (p.Gly650Ser)
c.1321G>A (p.Gly441Ser)
c.1132G>A (p.Gly378Ser)
c.1462G>A (p.Gly488Ser)
 dbSNP gnomAD v3 gnomAD v4
6g.107634753G>CCA365171526SOBPc.1909G>C (p.Gly637Arg)
c.2062G>C (p.Gly688Arg)
c.1966G>C (p.Gly656Arg)
c.1948G>C (p.Gly650Arg)
c.1321G>C (p.Gly441Arg)
c.1132G>C (p.Gly378Arg)
c.1462G>C (p.Gly488Arg)
 gnomAD v4
6g.107634753G=CA1653939265SOBPc.1909G= (p.Gly637=)
c.2062G= (p.Gly688=)
c.1966G= (p.Gly656=)
c.1948G= (p.Gly650=)
c.1321G= (p.Gly441=)
c.1132G= (p.Gly378=)
c.1462G= (p.Gly488=)
6g.107634753G>TCA365171527SOBPc.1909G>T (p.Gly637Cys)
c.2062G>T (p.Gly688Cys)
c.1966G>T (p.Gly656Cys)
c.1948G>T (p.Gly650Cys)
c.1321G>T (p.Gly441Cys)
c.1132G>T (p.Gly378Cys)
c.1462G>T (p.Gly488Cys)
 gnomAD v4
6g.107634754G>ACA365171530SOBPc.1910G>A (p.Gly637Asp)
c.2063G>A (p.Gly688Asp)
c.1967G>A (p.Gly656Asp)
c.1949G>A (p.Gly650Asp)
c.1322G>A (p.Gly441Asp)
c.1133G>A (p.Gly378Asp)
c.1463G>A (p.Gly488Asp)
 gnomAD v4
6g.107634754G>CCA365171529SOBPc.1910G>C (p.Gly637Ala)
c.2063G>C (p.Gly688Ala)
c.1967G>C (p.Gly656Ala)
c.1949G>C (p.Gly650Ala)
c.1322G>C (p.Gly441Ala)
c.1133G>C (p.Gly378Ala)
c.1463G>C (p.Gly488Ala)
6g.107634754G>TCA365171528SOBPc.1910G>T (p.Gly637Val)
c.2063G>T (p.Gly688Val)
c.1967G>T (p.Gly656Val)
c.1949G>T (p.Gly650Val)
c.1322G>T (p.Gly441Val)
c.1133G>T (p.Gly378Val)
c.1463G>T (p.Gly488Val)
 dbSNP
6g.107634755delCA2679876757SOBPc.1911del (p.Gly638AlafsTer19)
c.2064del (p.Gly689AlafsTer19)
c.1968del (p.Gly657AlafsTer19)
c.1950del (p.Gly651AlafsTer19)
c.1323del (p.Gly442AlafsTer19)
c.1134del (p.Gly379AlafsTer19)
c.1464del (p.Gly489AlafsTer19)
 gnomAD v4
6g.107634755C>ACA451581741SOBPc.1911C>A (p.Gly637=)
c.2064C>A (p.Gly688=)
c.1968C>A (p.Gly656=)
c.1950C>A (p.Gly650=)
c.1323C>A (p.Gly441=)
c.1134C>A (p.Gly378=)
c.1464C>A (p.Gly488=)
 gnomAD v4
6g.107634755C=CA1653939266SOBPc.1911C= (p.Gly637=)
c.2064C= (p.Gly688=)
c.1968C= (p.Gly656=)
c.1950C= (p.Gly650=)
c.1323C= (p.Gly441=)
c.1134C= (p.Gly378=)
c.1464C= (p.Gly488=)
6g.107634755C>GCA451581743SOBPc.1911C>G (p.Gly637=)
c.2064C>G (p.Gly688=)
c.1968C>G (p.Gly656=)
c.1950C>G (p.Gly650=)
c.1323C>G (p.Gly441=)
c.1134C>G (p.Gly378=)
c.1464C>G (p.Gly488=)
 gnomAD v4
6g.107634755C>TCA451581744SOBPc.1911C>T (p.Gly637=)
c.2064C>T (p.Gly688=)
c.1968C>T (p.Gly656=)
c.1950C>T (p.Gly650=)
c.1323C>T (p.Gly441=)
c.1134C>T (p.Gly378=)
c.1464C>T (p.Gly488=)
 dbSNP gnomAD v2 gnomAD v4
6g.107634756G>ACA365171531SOBPc.1912G>A (p.Gly638Ser)
c.2065G>A (p.Gly689Ser)
c.1969G>A (p.Gly657Ser)
c.1951G>A (p.Gly651Ser)
c.1324G>A (p.Gly442Ser)
c.1135G>A (p.Gly379Ser)
c.1465G>A (p.Gly489Ser)
 gnomAD v4
6g.107634756G>CCA365171532SOBPc.1912G>C (p.Gly638Arg)
c.2065G>C (p.Gly689Arg)
c.1969G>C (p.Gly657Arg)
c.1951G>C (p.Gly651Arg)
c.1324G>C (p.Gly442Arg)
c.1135G>C (p.Gly379Arg)
c.1465G>C (p.Gly489Arg)
 gnomAD v4
6g.107634756G>TCA365171533SOBPc.1912G>T (p.Gly638Cys)
c.2065G>T (p.Gly689Cys)
c.1969G>T (p.Gly657Cys)
c.1951G>T (p.Gly651Cys)
c.1324G>T (p.Gly442Cys)
c.1135G>T (p.Gly379Cys)
c.1465G>T (p.Gly489Cys)
 gnomAD v4
6g.107634757G>ACA365171534SOBPc.1913G>A (p.Gly638Asp)
c.2066G>A (p.Gly689Asp)
c.1970G>A (p.Gly657Asp)
c.1952G>A (p.Gly651Asp)
c.1325G>A (p.Gly442Asp)
c.1136G>A (p.Gly379Asp)
c.1466G>A (p.Gly489Asp)
 dbSNP gnomAD v4
6g.107634757G>CCA365171535SOBPc.1913G>C (p.Gly638Ala)
c.2066G>C (p.Gly689Ala)
c.1970G>C (p.Gly657Ala)
c.1952G>C (p.Gly651Ala)
c.1325G>C (p.Gly442Ala)
c.1136G>C (p.Gly379Ala)
c.1466G>C (p.Gly489Ala)
 gnomAD v4
6g.107634757G=CA1653939268SOBPc.1913G= (p.Gly638=)
c.2066G= (p.Gly689=)
c.1970G= (p.Gly657=)
c.1952G= (p.Gly651=)
c.1325G= (p.Gly442=)
c.1136G= (p.Gly379=)
c.1466G= (p.Gly489=)
6g.107634757G>TCA365171536SOBPc.1913G>T (p.Gly638Val)
c.2066G>T (p.Gly689Val)
c.1970G>T (p.Gly657Val)
c.1952G>T (p.Gly651Val)
c.1325G>T (p.Gly442Val)
c.1136G>T (p.Gly379Val)
c.1466G>T (p.Gly489Val)
 dbSNP gnomAD v3 gnomAD v4
6g.107634758C>ACA451581747SOBPc.1914C>A (p.Gly638=)
c.2067C>A (p.Gly689=)
c.1971C>A (p.Gly657=)
c.1953C>A (p.Gly651=)
c.1326C>A (p.Gly442=)
c.1137C>A (p.Gly379=)
c.1467C>A (p.Gly489=)
 dbSNP gnomAD v4
6g.107634758C=CA1653939271SOBPc.1914C= (p.Gly638=)
c.2067C= (p.Gly689=)
c.1971C= (p.Gly657=)
c.1953C= (p.Gly651=)
c.1326C= (p.Gly442=)
c.1137C= (p.Gly379=)
c.1467C= (p.Gly489=)
6g.107634758C>GCA451581749SOBPc.1914C>G (p.Gly638=)
c.2067C>G (p.Gly689=)
c.1971C>G (p.Gly657=)
c.1953C>G (p.Gly651=)
c.1326C>G (p.Gly442=)
c.1137C>G (p.Gly379=)
c.1467C>G (p.Gly489=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634758C>TCA451581748SOBPc.1914C>T (p.Gly638=)
c.2067C>T (p.Gly689=)
c.1971C>T (p.Gly657=)
c.1953C>T (p.Gly651=)
c.1326C>T (p.Gly442=)
c.1137C>T (p.Gly379=)
c.1467C>T (p.Gly489=)
 gnomAD v4
6g.107634759delCA2679876758SOBPc.1915del (p.Gln639SerfsTer18)
c.2068del (p.Gln690SerfsTer18)
c.1972del (p.Gln658SerfsTer18)
c.1954del (p.Gln652SerfsTer18)
c.1327del (p.Gln443SerfsTer18)
c.1138del (p.Gln380SerfsTer18)
c.1468del (p.Gln490SerfsTer18)
 gnomAD v4
6g.107634759C>ACA365171537SOBPc.1915C>A (p.Gln639Lys)
c.2068C>A (p.Gln690Lys)
c.1972C>A (p.Gln658Lys)
c.1954C>A (p.Gln652Lys)
c.1327C>A (p.Gln443Lys)
c.1138C>A (p.Gln380Lys)
c.1468C>A (p.Gln490Lys)
 gnomAD v4
6g.107634759C>GCA365171539SOBPc.1915C>G (p.Gln639Glu)
c.2068C>G (p.Gln690Glu)
c.1972C>G (p.Gln658Glu)
c.1954C>G (p.Gln652Glu)
c.1327C>G (p.Gln443Glu)
c.1138C>G (p.Gln380Glu)
c.1468C>G (p.Gln490Glu)
 gnomAD v4
6g.107634759C>TCA365171538SOBPc.1915C>T (p.Gln639Ter)
c.2068C>T (p.Gln690Ter)
c.1972C>T (p.Gln658Ter)
c.1954C>T (p.Gln652Ter)
c.1327C>T (p.Gln443Ter)
c.1138C>T (p.Gln380Ter)
c.1468C>T (p.Gln490Ter)
 gnomAD v4
6g.107634760A>CCA365171540SOBPc.1916A>C (p.Gln639Pro)
c.2069A>C (p.Gln690Pro)
c.1973A>C (p.Gln658Pro)
c.1955A>C (p.Gln652Pro)
c.1328A>C (p.Gln443Pro)
c.1139A>C (p.Gln380Pro)
c.1469A>C (p.Gln490Pro)
6g.107634760A>GCA365171541SOBPc.1916A>G (p.Gln639Arg)
c.2069A>G (p.Gln690Arg)
c.1973A>G (p.Gln658Arg)
c.1955A>G (p.Gln652Arg)
c.1328A>G (p.Gln443Arg)
c.1139A>G (p.Gln380Arg)
c.1469A>G (p.Gln490Arg)
 gnomAD v4
6g.107634760A>TCA365171542SOBPc.1916A>T (p.Gln639Leu)
c.2069A>T (p.Gln690Leu)
c.1973A>T (p.Gln658Leu)
c.1955A>T (p.Gln652Leu)
c.1328A>T (p.Gln443Leu)
c.1139A>T (p.Gln380Leu)
c.1469A>T (p.Gln490Leu)
 gnomAD v4
6g.107634761G>ACA451581753SOBPc.1917G>A (p.Gln639=)
c.2070G>A (p.Gln690=)
c.1974G>A (p.Gln658=)
c.1956G>A (p.Gln652=)
c.1329G>A (p.Gln443=)
c.1140G>A (p.Gln380=)
c.1470G>A (p.Gln490=)
 gnomAD v4
6g.107634761G>CCA365171543SOBPc.1917G>C (p.Gln639His)
c.2070G>C (p.Gln690His)
c.1974G>C (p.Gln658His)
c.1956G>C (p.Gln652His)
c.1329G>C (p.Gln443His)
c.1140G>C (p.Gln380His)
c.1470G>C (p.Gln490His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634761G=CA1653939274SOBPc.1917G= (p.Gln639=)
c.2070G= (p.Gln690=)
c.1974G= (p.Gln658=)
c.1956G= (p.Gln652=)
c.1329G= (p.Gln443=)
c.1140G= (p.Gln380=)
c.1470G= (p.Gln490=)
6g.107634761G>TCA365171544SOBPc.1917G>T (p.Gln639His)
c.2070G>T (p.Gln690His)
c.1974G>T (p.Gln658His)
c.1956G>T (p.Gln652His)
c.1329G>T (p.Gln443His)
c.1140G>T (p.Gln380His)
c.1470G>T (p.Gln490His)
 dbSNP gnomAD v3 gnomAD v4
6g.107634762C>ACA365171545SOBPc.1918C>A (p.Leu640Ile)
c.2071C>A (p.Leu691Ile)
c.1975C>A (p.Leu659Ile)
c.1957C>A (p.Leu653Ile)
c.1330C>A (p.Leu444Ile)
c.1141C>A (p.Leu381Ile)
c.1471C>A (p.Leu491Ile)
 gnomAD v4
6g.107634762C>GCA365171546SOBPc.1918C>G (p.Leu640Val)
c.2071C>G (p.Leu691Val)
c.1975C>G (p.Leu659Val)
c.1957C>G (p.Leu653Val)
c.1330C>G (p.Leu444Val)
c.1141C>G (p.Leu381Val)
c.1471C>G (p.Leu491Val)
 gnomAD v4
6g.107634762C>TCA365171547SOBPc.1918C>T (p.Leu640Phe)
c.2071C>T (p.Leu691Phe)
c.1975C>T (p.Leu659Phe)
c.1957C>T (p.Leu653Phe)
c.1330C>T (p.Leu444Phe)
c.1141C>T (p.Leu381Phe)
c.1471C>T (p.Leu491Phe)
 gnomAD v4
6g.107634763T>ACA365171548SOBPc.1919T>A (p.Leu640His)
c.2072T>A (p.Leu691His)
c.1976T>A (p.Leu659His)
c.1958T>A (p.Leu653His)
c.1331T>A (p.Leu444His)
c.1142T>A (p.Leu381His)
c.1472T>A (p.Leu491His)
 gnomAD v4
6g.107634763T>CCA365171549SOBPc.1919T>C (p.Leu640Pro)
c.2072T>C (p.Leu691Pro)
c.1976T>C (p.Leu659Pro)
c.1958T>C (p.Leu653Pro)
c.1331T>C (p.Leu444Pro)
c.1142T>C (p.Leu381Pro)
c.1472T>C (p.Leu491Pro)
 gnomAD v4
6g.107634763T>GCA365171550SOBPc.1919T>G (p.Leu640Arg)
c.2072T>G (p.Leu691Arg)
c.1976T>G (p.Leu659Arg)
c.1958T>G (p.Leu653Arg)
c.1331T>G (p.Leu444Arg)
c.1142T>G (p.Leu381Arg)
c.1472T>G (p.Leu491Arg)
6g.107634764C>ACA451581756SOBPc.1920C>A (p.Leu640=)
c.2073C>A (p.Leu691=)
c.1977C>A (p.Leu659=)
c.1959C>A (p.Leu653=)
c.1332C>A (p.Leu444=)
c.1143C>A (p.Leu381=)
c.1473C>A (p.Leu491=)
 gnomAD v4
6g.107634764C=CA1653939276SOBPc.1920C= (p.Leu640=)
c.2073C= (p.Leu691=)
c.1977C= (p.Leu659=)
c.1959C= (p.Leu653=)
c.1332C= (p.Leu444=)
c.1143C= (p.Leu381=)
c.1473C= (p.Leu491=)
6g.107634764C>GCA451581757SOBPc.1920C>G (p.Leu640=)
c.2073C>G (p.Leu691=)
c.1977C>G (p.Leu659=)
c.1959C>G (p.Leu653=)
c.1332C>G (p.Leu444=)
c.1143C>G (p.Leu381=)
c.1473C>G (p.Leu491=)
 ClinVar dbSNP gnomAD v4
6g.107634764C>TCA451581758SOBPc.1920C>T (p.Leu640=)
c.2073C>T (p.Leu691=)
c.1977C>T (p.Leu659=)
c.1959C>T (p.Leu653=)
c.1332C>T (p.Leu444=)
c.1143C>T (p.Leu381=)
c.1473C>T (p.Leu491=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634765G>ACA365171551SOBPc.1921G>A (p.Gly641Ser)
c.2074G>A (p.Gly692Ser)
c.1978G>A (p.Gly660Ser)
c.1960G>A (p.Gly654Ser)
c.1333G>A (p.Gly445Ser)
c.1144G>A (p.Gly382Ser)
c.1474G>A (p.Gly492Ser)
 gnomAD v4
6g.107634765G>CCA365171553SOBPc.1921G>C (p.Gly641Arg)
c.2074G>C (p.Gly692Arg)
c.1978G>C (p.Gly660Arg)
c.1960G>C (p.Gly654Arg)
c.1333G>C (p.Gly445Arg)
c.1144G>C (p.Gly382Arg)
c.1474G>C (p.Gly492Arg)
 dbSNP gnomAD v2 gnomAD v4
6g.107634765G=CA1653939278SOBPc.1921G= (p.Gly641=)
c.2074G= (p.Gly692=)
c.1978G= (p.Gly660=)
c.1960G= (p.Gly654=)
c.1333G= (p.Gly445=)
c.1144G= (p.Gly382=)
c.1474G= (p.Gly492=)
6g.107634765G>TCA365171552SOBPc.1921G>T (p.Gly641Cys)
c.2074G>T (p.Gly692Cys)
c.1978G>T (p.Gly660Cys)
c.1960G>T (p.Gly654Cys)
c.1333G>T (p.Gly445Cys)
c.1144G>T (p.Gly382Cys)
c.1474G>T (p.Gly492Cys)
 gnomAD v4
6g.107634766G>ACA365171554SOBPc.1922G>A (p.Gly641Asp)
c.2075G>A (p.Gly692Asp)
c.1979G>A (p.Gly660Asp)
c.1961G>A (p.Gly654Asp)
c.1334G>A (p.Gly445Asp)
c.1145G>A (p.Gly382Asp)
c.1475G>A (p.Gly492Asp)
 gnomAD v4
6g.107634766G>CCA365171555SOBPc.1922G>C (p.Gly641Ala)
c.2075G>C (p.Gly692Ala)
c.1979G>C (p.Gly660Ala)
c.1961G>C (p.Gly654Ala)
c.1334G>C (p.Gly445Ala)
c.1145G>C (p.Gly382Ala)
c.1475G>C (p.Gly492Ala)
 gnomAD v4
6g.107634766G>TCA365171556SOBPc.1922G>T (p.Gly641Val)
c.2075G>T (p.Gly692Val)
c.1979G>T (p.Gly660Val)
c.1961G>T (p.Gly654Val)
c.1334G>T (p.Gly445Val)
c.1145G>T (p.Gly382Val)
c.1475G>T (p.Gly492Val)
 dbSNP gnomAD v4
6g.107634767C>ACA451581765SOBPc.1923C>A (p.Gly641=)
c.2076C>A (p.Gly692=)
c.1980C>A (p.Gly660=)
c.1962C>A (p.Gly654=)
c.1335C>A (p.Gly445=)
c.1146C>A (p.Gly382=)
c.1476C>A (p.Gly492=)
 gnomAD v4
6g.107634767C=CA1653939280SOBPc.1923C= (p.Gly641=)
c.2076C= (p.Gly692=)
c.1980C= (p.Gly660=)
c.1962C= (p.Gly654=)
c.1335C= (p.Gly445=)
c.1146C= (p.Gly382=)
c.1476C= (p.Gly492=)
6g.107634767C>GCA451581764SOBPc.1923C>G (p.Gly641=)
c.2076C>G (p.Gly692=)
c.1980C>G (p.Gly660=)
c.1962C>G (p.Gly654=)
c.1335C>G (p.Gly445=)
c.1146C>G (p.Gly382=)
c.1476C>G (p.Gly492=)
6g.107634767C>TCA451581763SOBPc.1923C>T (p.Gly641=)
c.2076C>T (p.Gly692=)
c.1980C>T (p.Gly660=)
c.1962C>T (p.Gly654=)
c.1335C>T (p.Gly445=)
c.1146C>T (p.Gly382=)
c.1476C>T (p.Gly492=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634768T>ACA365171557SOBPc.1924T>A (p.Phe642Ile)
c.2077T>A (p.Phe693Ile)
c.1981T>A (p.Phe661Ile)
c.1963T>A (p.Phe655Ile)
c.1336T>A (p.Phe446Ile)
c.1147T>A (p.Phe383Ile)
c.1477T>A (p.Phe493Ile)
 gnomAD v4
6g.107634768T>CCA365171558SOBPc.1924T>C (p.Phe642Leu)
c.2077T>C (p.Phe693Leu)
c.1981T>C (p.Phe661Leu)
c.1963T>C (p.Phe655Leu)
c.1336T>C (p.Phe446Leu)
c.1147T>C (p.Phe383Leu)
c.1477T>C (p.Phe493Leu)
 gnomAD v4
6g.107634768T>GCA365171559SOBPc.1924T>G (p.Phe642Val)
c.2077T>G (p.Phe693Val)
c.1981T>G (p.Phe661Val)
c.1963T>G (p.Phe655Val)
c.1336T>G (p.Phe446Val)
c.1147T>G (p.Phe383Val)
c.1477T>G (p.Phe493Val)
6g.107634769T>ACA365171560SOBPc.1925T>A (p.Phe642Tyr)
c.2078T>A (p.Phe693Tyr)
c.1982T>A (p.Phe661Tyr)
c.1964T>A (p.Phe655Tyr)
c.1337T>A (p.Phe446Tyr)
c.1148T>A (p.Phe383Tyr)
c.1478T>A (p.Phe493Tyr)
6g.107634769T>CCA365171561SOBPc.1925T>C (p.Phe642Ser)
c.2078T>C (p.Phe693Ser)
c.1982T>C (p.Phe661Ser)
c.1964T>C (p.Phe655Ser)
c.1337T>C (p.Phe446Ser)
c.1148T>C (p.Phe383Ser)
c.1478T>C (p.Phe493Ser)
 gnomAD v4
6g.107634769T>GCA365171562SOBPc.1925T>G (p.Phe642Cys)
c.2078T>G (p.Phe693Cys)
c.1982T>G (p.Phe661Cys)
c.1964T>G (p.Phe655Cys)
c.1337T>G (p.Phe446Cys)
c.1148T>G (p.Phe383Cys)
c.1478T>G (p.Phe493Cys)
6g.107634770C>ACA365171563SOBPc.1926C>A (p.Phe642Leu)
c.2079C>A (p.Phe693Leu)
c.1983C>A (p.Phe661Leu)
c.1965C>A (p.Phe655Leu)
c.1338C>A (p.Phe446Leu)
c.1149C>A (p.Phe383Leu)
c.1479C>A (p.Phe493Leu)
 gnomAD v4
6g.107634770C>GCA365171564SOBPc.1926C>G (p.Phe642Leu)
c.2079C>G (p.Phe693Leu)
c.1983C>G (p.Phe661Leu)
c.1965C>G (p.Phe655Leu)
c.1338C>G (p.Phe446Leu)
c.1149C>G (p.Phe383Leu)
c.1479C>G (p.Phe493Leu)
6g.107634770C>TCA451581766SOBPc.1926C>T (p.Phe642=)
c.2079C>T (p.Phe693=)
c.1983C>T (p.Phe661=)
c.1965C>T (p.Phe655=)
c.1338C>T (p.Phe446=)
c.1149C>T (p.Phe383=)
c.1479C>T (p.Phe493=)
 gnomAD v4
6g.107634772delCA2679876759SOBPc.1928del (p.Pro643GlnfsTer14)
c.2081del (p.Pro694GlnfsTer14)
c.1985del (p.Pro662GlnfsTer14)
c.1967del (p.Pro656GlnfsTer14)
c.1340del (p.Pro447GlnfsTer14)
c.1151del (p.Pro384GlnfsTer14)
c.1481del (p.Pro494GlnfsTer14)
 gnomAD v4
6g.107634771_107634772delCA2679876760SOBPc.1927_1928del (p.Pro643ArgfsTer?)
c.2080_2081del (p.Pro694ArgfsTer?)
c.1984_1985del (p.Pro662ArgfsTer?)
c.1966_1967del (p.Pro656ArgfsTer?)
c.1339_1340del (p.Pro447ArgfsTer?)
c.1150_1151del (p.Pro384ArgfsTer?)
c.1480_1481del (p.Pro494ArgfsTer?)
 gnomAD v4
6g.107634771C>ACA365171567SOBPc.1927C>A (p.Pro643Thr)
c.2080C>A (p.Pro694Thr)
c.1984C>A (p.Pro662Thr)
c.1966C>A (p.Pro656Thr)
c.1339C>A (p.Pro447Thr)
c.1150C>A (p.Pro384Thr)
c.1480C>A (p.Pro494Thr)
 gnomAD v4
6g.107634771C>GCA365171566SOBPc.1927C>G (p.Pro643Ala)
c.2080C>G (p.Pro694Ala)
c.1984C>G (p.Pro662Ala)
c.1966C>G (p.Pro656Ala)
c.1339C>G (p.Pro447Ala)
c.1150C>G (p.Pro384Ala)
c.1480C>G (p.Pro494Ala)
 gnomAD v4
6g.107634771C>TCA365171565SOBPc.1927C>T (p.Pro643Ser)
c.2080C>T (p.Pro694Ser)
c.1984C>T (p.Pro662Ser)
c.1966C>T (p.Pro656Ser)
c.1339C>T (p.Pro447Ser)
c.1150C>T (p.Pro384Ser)
c.1480C>T (p.Pro494Ser)
 gnomAD v4
6g.107634772C>ACA365171568SOBPc.1928C>A (p.Pro643Gln)
c.2081C>A (p.Pro694Gln)
c.1985C>A (p.Pro662Gln)
c.1967C>A (p.Pro656Gln)
c.1340C>A (p.Pro447Gln)
c.1151C>A (p.Pro384Gln)
c.1481C>A (p.Pro494Gln)
 gnomAD v4
6g.107634772C>GCA365171569SOBPc.1928C>G (p.Pro643Arg)
c.2081C>G (p.Pro694Arg)
c.1985C>G (p.Pro662Arg)
c.1967C>G (p.Pro656Arg)
c.1340C>G (p.Pro447Arg)
c.1151C>G (p.Pro384Arg)
c.1481C>G (p.Pro494Arg)
6g.107634772C>TCA365171570SOBPc.1928C>T (p.Pro643Leu)
c.2081C>T (p.Pro694Leu)
c.1985C>T (p.Pro662Leu)
c.1967C>T (p.Pro656Leu)
c.1340C>T (p.Pro447Leu)
c.1151C>T (p.Pro384Leu)
c.1481C>T (p.Pro494Leu)
 gnomAD v4
6g.107634772_107634773insCGGCA2578705633SOBPc.1928_1929insCGG (p.Pro643_Gly644insGly)
c.2081_2082insCGG (p.Pro694_Gly695insGly)
c.1985_1986insCGG (p.Pro662_Gly663insGly)
c.1967_1968insCGG (p.Pro656_Gly657insGly)
c.1340_1341insCGG (p.Pro447_Gly448insGly)
c.1151_1152insCGG (p.Pro384_Gly385insGly)
c.1481_1482insCGG (p.Pro494_Gly495insGly)
6g.107634773A=CA1653939284SOBPc.1929A= (p.Pro643=)
c.2082A= (p.Pro694=)
c.1986A= (p.Pro662=)
c.1968A= (p.Pro656=)
c.1341A= (p.Pro447=)
c.1152A= (p.Pro384=)
c.1482A= (p.Pro494=)
6g.107634773A>CCA451581769SOBPc.1929A>C (p.Pro643=)
c.2082A>C (p.Pro694=)
c.1986A>C (p.Pro662=)
c.1968A>C (p.Pro656=)
c.1341A>C (p.Pro447=)
c.1152A>C (p.Pro384=)
c.1482A>C (p.Pro494=)
 dbSNP gnomAD v3 gnomAD v4
6g.107634773A>GCA451581770SOBPc.1929A>G (p.Pro643=)
c.2082A>G (p.Pro694=)
c.1986A>G (p.Pro662=)
c.1968A>G (p.Pro656=)
c.1341A>G (p.Pro447=)
c.1152A>G (p.Pro384=)
c.1482A>G (p.Pro494=)
 gnomAD v4
6g.107634773A>TCA451581771SOBPc.1929A>T (p.Pro643=)
c.2082A>T (p.Pro694=)
c.1986A>T (p.Pro662=)
c.1968A>T (p.Pro656=)
c.1341A>T (p.Pro447=)
c.1152A>T (p.Pro384=)
c.1482A>T (p.Pro494=)
 gnomAD v4
6g.107634774G>ACA365171571SOBPc.1930G>A (p.Gly644Ser)
c.2083G>A (p.Gly695Ser)
c.1987G>A (p.Gly663Ser)
c.1969G>A (p.Gly657Ser)
c.1342G>A (p.Gly448Ser)
c.1153G>A (p.Gly385Ser)
c.1483G>A (p.Gly495Ser)
 gnomAD v4
6g.107634774G>CCA365171572SOBPc.1930G>C (p.Gly644Arg)
c.2083G>C (p.Gly695Arg)
c.1987G>C (p.Gly663Arg)
c.1969G>C (p.Gly657Arg)
c.1342G>C (p.Gly448Arg)
c.1153G>C (p.Gly385Arg)
c.1483G>C (p.Gly495Arg)
 dbSNP
6g.107634774G=CA1653939287SOBPc.1930G= (p.Gly644=)
c.2083G= (p.Gly695=)
c.1987G= (p.Gly663=)
c.1969G= (p.Gly657=)
c.1342G= (p.Gly448=)
c.1153G= (p.Gly385=)
c.1483G= (p.Gly495=)
6g.107634774G>TCA365171573SOBPc.1930G>T (p.Gly644Cys)
c.2083G>T (p.Gly695Cys)
c.1987G>T (p.Gly663Cys)
c.1969G>T (p.Gly657Cys)
c.1342G>T (p.Gly448Cys)
c.1153G>T (p.Gly385Cys)
c.1483G>T (p.Gly495Cys)
 gnomAD v4
6g.107634775G>ACA145013902SOBPc.1931G>A (p.Gly644Asp)
c.2084G>A (p.Gly695Asp)
c.1988G>A (p.Gly663Asp)
c.1970G>A (p.Gly657Asp)
c.1343G>A (p.Gly448Asp)
c.1154G>A (p.Gly385Asp)
c.1484G>A (p.Gly495Asp)
 dbSNP gnomAD v3 gnomAD v4
6g.107634775G>CCA365171574SOBPc.1931G>C (p.Gly644Ala)
c.2084G>C (p.Gly695Ala)
c.1988G>C (p.Gly663Ala)
c.1970G>C (p.Gly657Ala)
c.1343G>C (p.Gly448Ala)
c.1154G>C (p.Gly385Ala)
c.1484G>C (p.Gly495Ala)
 gnomAD v4
6g.107634775G=CA1653939290SOBPc.1931G= (p.Gly644=)
c.2084G= (p.Gly695=)
c.1988G= (p.Gly663=)
c.1970G= (p.Gly657=)
c.1343G= (p.Gly448=)
c.1154G= (p.Gly385=)
c.1484G= (p.Gly495=)
6g.107634775G>TCA365171575SOBPc.1931G>T (p.Gly644Val)
c.2084G>T (p.Gly695Val)
c.1988G>T (p.Gly663Val)
c.1970G>T (p.Gly657Val)
c.1343G>T (p.Gly448Val)
c.1154G>T (p.Gly385Val)
c.1484G>T (p.Gly495Val)
 gnomAD v4
6g.107634776C>ACA451581775SOBPc.1932C>A (p.Gly644=)
c.2085C>A (p.Gly695=)
c.1989C>A (p.Gly663=)
c.1971C>A (p.Gly657=)
c.1344C>A (p.Gly448=)
c.1155C>A (p.Gly385=)
c.1485C>A (p.Gly495=)
 gnomAD v4
6g.107634776C=CA1653939292SOBPc.1932C= (p.Gly644=)
c.2085C= (p.Gly695=)
c.1989C= (p.Gly663=)
c.1971C= (p.Gly657=)
c.1344C= (p.Gly448=)
c.1155C= (p.Gly385=)
c.1485C= (p.Gly495=)
6g.107634776C>GCA451581776SOBPc.1932C>G (p.Gly644=)
c.2085C>G (p.Gly695=)
c.1989C>G (p.Gly663=)
c.1971C>G (p.Gly657=)
c.1344C>G (p.Gly448=)
c.1155C>G (p.Gly385=)
c.1485C>G (p.Gly495=)
 gnomAD v4
6g.107634776C>TCA451581777SOBPc.1932C>T (p.Gly644=)
c.2085C>T (p.Gly695=)
c.1989C>T (p.Gly663=)
c.1971C>T (p.Gly657=)
c.1344C>T (p.Gly448=)
c.1155C>T (p.Gly385=)
c.1485C>T (p.Gly495=)
 dbSNP gnomAD v2 gnomAD v4
6g.107634777G>ACA365171576SOBPc.1933G>A (p.Val645Met)
c.2086G>A (p.Val696Met)
c.1990G>A (p.Val664Met)
c.1972G>A (p.Val658Met)
c.1345G>A (p.Val449Met)
c.1156G>A (p.Val386Met)
c.1486G>A (p.Val496Met)
 gnomAD v4
6g.107634777G>CCA365171577SOBPc.1933G>C (p.Val645Leu)
c.2086G>C (p.Val696Leu)
c.1990G>C (p.Val664Leu)
c.1972G>C (p.Val658Leu)
c.1345G>C (p.Val449Leu)
c.1156G>C (p.Val386Leu)
c.1486G>C (p.Val496Leu)
 dbSNP gnomAD v4
6g.107634777G=CA1653939294SOBPc.1933G= (p.Val645=)
c.2086G= (p.Val696=)
c.1990G= (p.Val664=)
c.1972G= (p.Val658=)
c.1345G= (p.Val449=)
c.1156G= (p.Val386=)
c.1486G= (p.Val496=)
6g.107634777G>TCA365171578SOBPc.1933G>T (p.Val645Leu)
c.2086G>T (p.Val696Leu)
c.1990G>T (p.Val664Leu)
c.1972G>T (p.Val658Leu)
c.1345G>T (p.Val449Leu)
c.1156G>T (p.Val386Leu)
c.1486G>T (p.Val496Leu)
 gnomAD v4
6g.107634778T>ACA365171580SOBPc.1934T>A (p.Val645Glu)
c.2087T>A (p.Val696Glu)
c.1991T>A (p.Val664Glu)
c.1973T>A (p.Val658Glu)
c.1346T>A (p.Val449Glu)
c.1157T>A (p.Val386Glu)
c.1487T>A (p.Val496Glu)
6g.107634778T>CCA365171581SOBPc.1934T>C (p.Val645Ala)
c.2087T>C (p.Val696Ala)
c.1991T>C (p.Val664Ala)
c.1973T>C (p.Val658Ala)
c.1346T>C (p.Val449Ala)
c.1157T>C (p.Val386Ala)
c.1487T>C (p.Val496Ala)
 gnomAD v4
6g.107634778T>GCA365171579SOBPc.1934T>G (p.Val645Gly)
c.2087T>G (p.Val696Gly)
c.1991T>G (p.Val664Gly)
c.1973T>G (p.Val658Gly)
c.1346T>G (p.Val449Gly)
c.1157T>G (p.Val386Gly)
c.1487T>G (p.Val496Gly)
 gnomAD v4
6g.107634779G>ACA451581778SOBPc.1935G>A (p.Val645=)
c.2088G>A (p.Val696=)
c.1992G>A (p.Val664=)
c.1974G>A (p.Val658=)
c.1347G>A (p.Val449=)
c.1158G>A (p.Val386=)
c.1488G>A (p.Val496=)
 gnomAD v4
6g.107634779G>CCA451581780SOBPc.1935G>C (p.Val645=)
c.2088G>C (p.Val696=)
c.1992G>C (p.Val664=)
c.1974G>C (p.Val658=)
c.1347G>C (p.Val449=)
c.1158G>C (p.Val386=)
c.1488G>C (p.Val496=)
 gnomAD v4
6g.107634779G>TCA451581781SOBPc.1935G>T (p.Val645=)
c.2088G>T (p.Val696=)
c.1992G>T (p.Val664=)
c.1974G>T (p.Val658=)
c.1347G>T (p.Val449=)
c.1158G>T (p.Val386=)
c.1488G>T (p.Val496=)
 dbSNP gnomAD v4
6g.107634780C>ACA365171583SOBPc.1936C>A (p.Leu646Met)
c.2089C>A (p.Leu697Met)
c.1993C>A (p.Leu665Met)
c.1975C>A (p.Leu659Met)
c.1348C>A (p.Leu450Met)
c.1159C>A (p.Leu387Met)
c.1489C>A (p.Leu497Met)
 gnomAD v4
6g.107634780C=CA1653939295SOBPc.1936C= (p.Leu646=)
c.2089C= (p.Leu697=)
c.1993C= (p.Leu665=)
c.1975C= (p.Leu659=)
c.1348C= (p.Leu450=)
c.1159C= (p.Leu387=)
c.1489C= (p.Leu497=)
6g.107634780C>GCA365171582SOBPc.1936C>G (p.Leu646Val)
c.2089C>G (p.Leu697Val)
c.1993C>G (p.Leu665Val)
c.1975C>G (p.Leu659Val)
c.1348C>G (p.Leu450Val)
c.1159C>G (p.Leu387Val)
c.1489C>G (p.Leu497Val)
 gnomAD v4
6g.107634780C>TCA451581783SOBPc.1936C>T (p.Leu646=)
c.2089C>T (p.Leu697=)
c.1993C>T (p.Leu665=)
c.1975C>T (p.Leu659=)
c.1348C>T (p.Leu450=)
c.1159C>T (p.Leu387=)
c.1489C>T (p.Leu497=)
 dbSNP gnomAD v4
6g.107634781T>ACA365171585SOBPc.1937T>A (p.Leu646Gln)
c.2090T>A (p.Leu697Gln)
c.1994T>A (p.Leu665Gln)
c.1976T>A (p.Leu659Gln)
c.1349T>A (p.Leu450Gln)
c.1160T>A (p.Leu387Gln)
c.1490T>A (p.Leu497Gln)
 ClinVar dbSNP
6g.107634781T>CCA365171584SOBPc.1937T>C (p.Leu646Pro)
c.2090T>C (p.Leu697Pro)
c.1994T>C (p.Leu665Pro)
c.1976T>C (p.Leu659Pro)
c.1349T>C (p.Leu450Pro)
c.1160T>C (p.Leu387Pro)
c.1490T>C (p.Leu497Pro)
 gnomAD v4
6g.107634781T>GCA365171586SOBPc.1937T>G (p.Leu646Arg)
c.2090T>G (p.Leu697Arg)
c.1994T>G (p.Leu665Arg)
c.1976T>G (p.Leu659Arg)
c.1349T>G (p.Leu450Arg)
c.1160T>G (p.Leu387Arg)
c.1490T>G (p.Leu497Arg)
6g.107634781T=CA1653939298SOBPc.1937T= (p.Leu646=)
c.2090T= (p.Leu697=)
c.1994T= (p.Leu665=)
c.1976T= (p.Leu659=)
c.1349T= (p.Leu450=)
c.1160T= (p.Leu387=)
c.1490T= (p.Leu497=)
6g.107634782G>ACA451581786SOBPc.1938G>A (p.Leu646=)
c.2091G>A (p.Leu697=)
c.1995G>A (p.Leu665=)
c.1977G>A (p.Leu659=)
c.1350G>A (p.Leu450=)
c.1161G>A (p.Leu387=)
c.1491G>A (p.Leu497=)
 gnomAD v4
6g.107634782G>CCA451581787SOBPc.1938G>C (p.Leu646=)
c.2091G>C (p.Leu697=)
c.1995G>C (p.Leu665=)
c.1977G>C (p.Leu659=)
c.1350G>C (p.Leu450=)
c.1161G>C (p.Leu387=)
c.1491G>C (p.Leu497=)
 gnomAD v4
6g.107634782G>TCA451581788SOBPc.1938G>T (p.Leu646=)
c.2091G>T (p.Leu697=)
c.1995G>T (p.Leu665=)
c.1977G>T (p.Leu659=)
c.1350G>T (p.Leu450=)
c.1161G>T (p.Leu387=)
c.1491G>T (p.Leu497=)
 gnomAD v4
6g.107634783C>ACA365171587SOBPc.1939C>A (p.Gln647Lys)
c.2092C>A (p.Gln698Lys)
c.1996C>A (p.Gln666Lys)
c.1978C>A (p.Gln660Lys)
c.1351C>A (p.Gln451Lys)
c.1162C>A (p.Gln388Lys)
c.1492C>A (p.Gln498Lys)
 gnomAD v4
6g.107634783C>GCA365171588SOBPc.1939C>G (p.Gln647Glu)
c.2092C>G (p.Gln698Glu)
c.1996C>G (p.Gln666Glu)
c.1978C>G (p.Gln660Glu)
c.1351C>G (p.Gln451Glu)
c.1162C>G (p.Gln388Glu)
c.1492C>G (p.Gln498Glu)
6g.107634783C>TCA365171589SOBPc.1939C>T (p.Gln647Ter)
c.2092C>T (p.Gln698Ter)
c.1996C>T (p.Gln666Ter)
c.1978C>T (p.Gln660Ter)
c.1351C>T (p.Gln451Ter)
c.1162C>T (p.Gln388Ter)
c.1492C>T (p.Gln498Ter)
 gnomAD v4 COSMIC
6g.107634784A=CA1653939301SOBPc.1940A= (p.Gln647=)
c.2093A= (p.Gln698=)
c.1997A= (p.Gln666=)
c.1979A= (p.Gln660=)
c.1352A= (p.Gln451=)
c.1163A= (p.Gln388=)
c.1493A= (p.Gln498=)
6g.107634784A>CCA365171590SOBPc.1940A>C (p.Gln647Pro)
c.2093A>C (p.Gln698Pro)
c.1997A>C (p.Gln666Pro)
c.1979A>C (p.Gln660Pro)
c.1352A>C (p.Gln451Pro)
c.1163A>C (p.Gln388Pro)
c.1493A>C (p.Gln498Pro)
 gnomAD v4
6g.107634784A>GCA365171591SOBPc.1940A>G (p.Gln647Arg)
c.2093A>G (p.Gln698Arg)
c.1997A>G (p.Gln666Arg)
c.1979A>G (p.Gln660Arg)
c.1352A>G (p.Gln451Arg)
c.1163A>G (p.Gln388Arg)
c.1493A>G (p.Gln498Arg)
 gnomAD v4
6g.107634784A>TCA365171592SOBPc.1940A>T (p.Gln647Leu)
c.2093A>T (p.Gln698Leu)
c.1997A>T (p.Gln666Leu)
c.1979A>T (p.Gln660Leu)
c.1352A>T (p.Gln451Leu)
c.1163A>T (p.Gln388Leu)
c.1493A>T (p.Gln498Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634785G>ACA451581793SOBPc.1941G>A (p.Gln647=)
c.2094G>A (p.Gln698=)
c.1998G>A (p.Gln666=)
c.1980G>A (p.Gln660=)
c.1353G>A (p.Gln451=)
c.1164G>A (p.Gln388=)
c.1494G>A (p.Gln498=)
 gnomAD v4
6g.107634785G>CCA365171593SOBPc.1941G>C (p.Gln647His)
c.2094G>C (p.Gln698His)
c.1998G>C (p.Gln666His)
c.1980G>C (p.Gln660His)
c.1353G>C (p.Gln451His)
c.1164G>C (p.Gln388His)
c.1494G>C (p.Gln498His)
6g.107634785G>TCA365171594SOBPc.1941G>T (p.Gln647His)
c.2094G>T (p.Gln698His)
c.1998G>T (p.Gln666His)
c.1980G>T (p.Gln660His)
c.1353G>T (p.Gln451His)
c.1164G>T (p.Gln388His)
c.1494G>T (p.Gln498His)
 gnomAD v4
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

Number of alleles fetched