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.107634722_107634726delinsCGCCGCA1653939173SOBPc.1878_1882delinsCGCCG (p.Arg626=)
c.2031_2035delinsCGCCG (p.Arg677=)
c.1935_1939delinsCGCCG (p.Arg645=)
c.1917_1921delinsCGCCG (p.Arg639=)
c.1290_1294delinsCGCCG (p.Arg430=)
c.1101_1105delinsCGCCG (p.Arg367=)
c.1431_1435delinsCGCCG (p.Arg477=)
6g.107634725_107634728delCA569564372SOBPc.1881_1884del (p.Gly628AlafsTer28)
c.2034_2037del (p.Gly679AlafsTer28)
c.1938_1941del (p.Gly647AlafsTer28)
c.1920_1923del (p.Gly641AlafsTer28)
c.1293_1296del (p.Gly432AlafsTer28)
c.1104_1107del (p.Gly369AlafsTer28)
c.1434_1437del (p.Gly479AlafsTer28)
 dbSNP gnomAD v2 gnomAD v4
6g.107634725C>ACA451581649SOBPc.1881C>A (p.Ala627=)
c.2034C>A (p.Ala678=)
c.1938C>A (p.Ala646=)
c.1920C>A (p.Ala640=)
c.1293C>A (p.Ala431=)
c.1104C>A (p.Ala368=)
c.1434C>A (p.Ala478=)
 gnomAD v4
6g.107634725C=CA1653939182SOBPc.1881C= (p.Ala627=)
c.2034C= (p.Ala678=)
c.1938C= (p.Ala646=)
c.1920C= (p.Ala640=)
c.1293C= (p.Ala431=)
c.1104C= (p.Ala368=)
c.1434C= (p.Ala478=)
6g.107634725C>GCA451581653SOBPc.1881C>G (p.Ala627=)
c.2034C>G (p.Ala678=)
c.1938C>G (p.Ala646=)
c.1920C>G (p.Ala640=)
c.1293C>G (p.Ala431=)
c.1104C>G (p.Ala368=)
c.1434C>G (p.Ala478=)
 gnomAD v4
6g.107634725C>TCA451581651SOBPc.1881C>T (p.Ala627=)
c.2034C>T (p.Ala678=)
c.1938C>T (p.Ala646=)
c.1920C>T (p.Ala640=)
c.1293C>T (p.Ala431=)
c.1104C>T (p.Ala368=)
c.1434C>T (p.Ala478=)
 dbSNP gnomAD v3 gnomAD v4
6g.107634726G>ACA365171475SOBPc.1882G>A (p.Gly628Ser)
c.2035G>A (p.Gly679Ser)
c.1939G>A (p.Gly647Ser)
c.1921G>A (p.Gly641Ser)
c.1294G>A (p.Gly432Ser)
c.1105G>A (p.Gly369Ser)
c.1435G>A (p.Gly479Ser)
 gnomAD v4 COSMIC
6g.107634726G>CCA365171476SOBPc.1882G>C (p.Gly628Arg)
c.2035G>C (p.Gly679Arg)
c.1939G>C (p.Gly647Arg)
c.1921G>C (p.Gly641Arg)
c.1294G>C (p.Gly432Arg)
c.1105G>C (p.Gly369Arg)
c.1435G>C (p.Gly479Arg)
 gnomAD v4
6g.107634726G>TCA365171477SOBPc.1882G>T (p.Gly628Cys)
c.2035G>T (p.Gly679Cys)
c.1939G>T (p.Gly647Cys)
c.1921G>T (p.Gly641Cys)
c.1294G>T (p.Gly432Cys)
c.1105G>T (p.Gly369Cys)
c.1435G>T (p.Gly479Cys)
 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.107634727G>ACA3946605SOBPc.1883G>A (p.Gly628Asp)
c.2036G>A (p.Gly679Asp)
c.1940G>A (p.Gly647Asp)
c.1922G>A (p.Gly641Asp)
c.1295G>A (p.Gly432Asp)
c.1106G>A (p.Gly369Asp)
c.1436G>A (p.Gly479Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634727G>CCA365171478SOBPc.1883G>C (p.Gly628Ala)
c.2036G>C (p.Gly679Ala)
c.1940G>C (p.Gly647Ala)
c.1922G>C (p.Gly641Ala)
c.1295G>C (p.Gly432Ala)
c.1106G>C (p.Gly369Ala)
c.1436G>C (p.Gly479Ala)
 gnomAD v4
6g.107634727G=CA1653939184SOBPc.1883G= (p.Gly628=)
c.2036G= (p.Gly679=)
c.1940G= (p.Gly647=)
c.1922G= (p.Gly641=)
c.1295G= (p.Gly432=)
c.1106G= (p.Gly369=)
c.1436G= (p.Gly479=)
6g.107634727G>TCA365171479SOBPc.1883G>T (p.Gly628Val)
c.2036G>T (p.Gly679Val)
c.1940G>T (p.Gly647Val)
c.1922G>T (p.Gly641Val)
c.1295G>T (p.Gly432Val)
c.1106G>T (p.Gly369Val)
c.1436G>T (p.Gly479Val)
 gnomAD v4
6g.107634728C>ACA451581659SOBPc.1884C>A (p.Gly628=)
c.2037C>A (p.Gly679=)
c.1941C>A (p.Gly647=)
c.1923C>A (p.Gly641=)
c.1296C>A (p.Gly432=)
c.1107C>A (p.Gly369=)
c.1437C>A (p.Gly479=)
 dbSNP gnomAD v2 gnomAD v4
6g.107634728C=CA1653939190SOBPc.1884C= (p.Gly628=)
c.2037C= (p.Gly679=)
c.1941C= (p.Gly647=)
c.1923C= (p.Gly641=)
c.1296C= (p.Gly432=)
c.1107C= (p.Gly369=)
c.1437C= (p.Gly479=)
6g.107634728C>GCA451581660SOBPc.1884C>G (p.Gly628=)
c.2037C>G (p.Gly679=)
c.1941C>G (p.Gly647=)
c.1923C>G (p.Gly641=)
c.1296C>G (p.Gly432=)
c.1107C>G (p.Gly369=)
c.1437C>G (p.Gly479=)
 gnomAD v4
6g.107634728C>TCA3946606SOBPc.1884C>T (p.Gly628=)
c.2037C>T (p.Gly679=)
c.1941C>T (p.Gly647=)
c.1923C>T (p.Gly641=)
c.1296C>T (p.Gly432=)
c.1107C>T (p.Gly369=)
c.1437C>T (p.Gly479=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634729A=CA1653939193SOBPc.1885A= (p.Ser629=)
c.2038A= (p.Ser680=)
c.1942A= (p.Ser648=)
c.1924A= (p.Ser642=)
c.1297A= (p.Ser433=)
c.1108A= (p.Ser370=)
c.1438A= (p.Ser480=)
6g.107634729A>CCA365171480SOBPc.1885A>C (p.Ser629Arg)
c.2038A>C (p.Ser680Arg)
c.1942A>C (p.Ser648Arg)
c.1924A>C (p.Ser642Arg)
c.1297A>C (p.Ser433Arg)
c.1108A>C (p.Ser370Arg)
c.1438A>C (p.Ser480Arg)
6g.107634729A>GCA365171481SOBPc.1885A>G (p.Ser629Gly)
c.2038A>G (p.Ser680Gly)
c.1942A>G (p.Ser648Gly)
c.1924A>G (p.Ser642Gly)
c.1297A>G (p.Ser433Gly)
c.1108A>G (p.Ser370Gly)
c.1438A>G (p.Ser480Gly)
 dbSNP gnomAD v4
6g.107634729A>TCA365171482SOBPc.1885A>T (p.Ser629Cys)
c.2038A>T (p.Ser680Cys)
c.1942A>T (p.Ser648Cys)
c.1924A>T (p.Ser642Cys)
c.1297A>T (p.Ser433Cys)
c.1108A>T (p.Ser370Cys)
c.1438A>T (p.Ser480Cys)
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.107634730G>ACA365171485SOBPc.1886G>A (p.Ser629Asn)
c.2039G>A (p.Ser680Asn)
c.1943G>A (p.Ser648Asn)
c.1925G>A (p.Ser642Asn)
c.1298G>A (p.Ser433Asn)
c.1109G>A (p.Ser370Asn)
c.1439G>A (p.Ser480Asn)
 dbSNP gnomAD v3 gnomAD v4
6g.107634730G>CCA365171484SOBPc.1886G>C (p.Ser629Thr)
c.2039G>C (p.Ser680Thr)
c.1943G>C (p.Ser648Thr)
c.1925G>C (p.Ser642Thr)
c.1298G>C (p.Ser433Thr)
c.1109G>C (p.Ser370Thr)
c.1439G>C (p.Ser480Thr)
 gnomAD v4
6g.107634730G=CA1653939200SOBPc.1886G= (p.Ser629=)
c.2039G= (p.Ser680=)
c.1943G= (p.Ser648=)
c.1925G= (p.Ser642=)
c.1298G= (p.Ser433=)
c.1109G= (p.Ser370=)
c.1439G= (p.Ser480=)
6g.107634730G>TCA365171483SOBPc.1886G>T (p.Ser629Ile)
c.2039G>T (p.Ser680Ile)
c.1943G>T (p.Ser648Ile)
c.1925G>T (p.Ser642Ile)
c.1298G>T (p.Ser433Ile)
c.1109G>T (p.Ser370Ile)
c.1439G>T (p.Ser480Ile)
 gnomAD v4
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.107634731C>ACA145013872SOBPc.1887C>A (p.Ser629Arg)
c.2040C>A (p.Ser680Arg)
c.1944C>A (p.Ser648Arg)
c.1926C>A (p.Ser642Arg)
c.1299C>A (p.Ser433Arg)
c.1110C>A (p.Ser370Arg)
c.1440C>A (p.Ser480Arg)
 dbSNP gnomAD v2 gnomAD v4
6g.107634731C=CA1653939202SOBPc.1887C= (p.Ser629=)
c.2040C= (p.Ser680=)
c.1944C= (p.Ser648=)
c.1926C= (p.Ser642=)
c.1299C= (p.Ser433=)
c.1110C= (p.Ser370=)
c.1440C= (p.Ser480=)
6g.107634731C>GCA365171486SOBPc.1887C>G (p.Ser629Arg)
c.2040C>G (p.Ser680Arg)
c.1944C>G (p.Ser648Arg)
c.1926C>G (p.Ser642Arg)
c.1299C>G (p.Ser433Arg)
c.1110C>G (p.Ser370Arg)
c.1440C>G (p.Ser480Arg)
 dbSNP gnomAD v4
6g.107634731C>TCA451581677SOBPc.1887C>T (p.Ser629=)
c.2040C>T (p.Ser680=)
c.1944C>T (p.Ser648=)
c.1926C>T (p.Ser642=)
c.1299C>T (p.Ser433=)
c.1110C>T (p.Ser370=)
c.1440C>T (p.Ser480=)
 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.107634732C>ACA365171487SOBPc.1888C>A (p.Pro630Thr)
c.2041C>A (p.Pro681Thr)
c.1945C>A (p.Pro649Thr)
c.1927C>A (p.Pro643Thr)
c.1300C>A (p.Pro434Thr)
c.1111C>A (p.Pro371Thr)
c.1441C>A (p.Pro481Thr)
 dbSNP gnomAD v3 gnomAD v4
6g.107634732C=CA1653939207SOBPc.1888C= (p.Pro630=)
c.2041C= (p.Pro681=)
c.1945C= (p.Pro649=)
c.1927C= (p.Pro643=)
c.1300C= (p.Pro434=)
c.1111C= (p.Pro371=)
c.1441C= (p.Pro481=)
6g.107634732C>GCA365171488SOBPc.1888C>G (p.Pro630Ala)
c.2041C>G (p.Pro681Ala)
c.1945C>G (p.Pro649Ala)
c.1927C>G (p.Pro643Ala)
c.1300C>G (p.Pro434Ala)
c.1111C>G (p.Pro371Ala)
c.1441C>G (p.Pro481Ala)
6g.107634732C>TCA145013876SOBPc.1888C>T (p.Pro630Ser)
c.2041C>T (p.Pro681Ser)
c.1945C>T (p.Pro649Ser)
c.1927C>T (p.Pro643Ser)
c.1300C>T (p.Pro434Ser)
c.1111C>T (p.Pro371Ser)
c.1441C>T (p.Pro481Ser)
 dbSNP gnomAD v2 gnomAD v3 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=)

Number of alleles fetched