Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.125317952T>A | CA358118124 | FAT4 | c.1541T>A (p.Ile514Asn) c.-55+1975T>A (n.-55+1975T>A) | |
4 | g.125317952T>C | CA358118125 | FAT4 | c.1541T>C (p.Ile514Thr) c.-55+1975T>C (n.-55+1975T>C) | ClinVar dbSNP gnomAD v4 |
4 | g.125317952T>G | CA358118126 | FAT4 | c.1541T>G (p.Ile514Ser) c.-55+1975T>G (n.-55+1975T>G) | |
4 | g.125317952T= | CA1491601106 | FAT4 | c.1541T= (p.Ile514=) c.-55+1975T= (n.-55+1975T=) | |
4 | g.125317953T>A | CA441367026 | FAT4 | c.1542T>A (p.Ile514=) c.-55+1976T>A (n.-55+1976T>A) | |
4 | g.125317953T>C | CA441367028 | FAT4 | c.1542T>C (p.Ile514=) c.-55+1976T>C (n.-55+1976T>C) | COSMIC COSMIC |
4 | g.125317953T>G | CA358118127 | FAT4 | c.1542T>G (p.Ile514Met) c.-55+1976T>G (n.-55+1976T>G) | |
4 | g.125317954G>A | CA358118130 | FAT4 | c.1543G>A (p.Val515Ile) c.-55+1977G>A (n.-55+1977G>A) | |
4 | g.125317954G>C | CA358118129 | FAT4 | c.1543G>C (p.Val515Leu) c.-55+1977G>C (n.-55+1977G>C) | |
4 | g.125317954G>T | CA358118128 | FAT4 | c.1543G>T (p.Val515Phe) c.-55+1977G>T (n.-55+1977G>T) | |
4 | g.125317955T>A | CA358118133 | FAT4 | c.1544T>A (p.Val515Asp) c.-55+1978T>A (n.-55+1978T>A) | |
4 | g.125317955T>C | CA358118131 | FAT4 | c.1544T>C (p.Val515Ala) c.-55+1978T>C (n.-55+1978T>C) | |
4 | g.125317955T>G | CA358118132 | FAT4 | c.1544T>G (p.Val515Gly) c.-55+1978T>G (n.-55+1978T>G) | |
4 | g.125317956C>A | CA441367036 | FAT4 | c.1545C>A (p.Val515=) c.-55+1979C>A (n.-55+1979C>A) | |
4 | g.125317956C= | CA1491601110 | FAT4 | c.1545C= (p.Val515=) c.-55+1979C= (n.-55+1979C=) | |
4 | g.125317956C>G | CA441367037 | FAT4 | c.1545C>G (p.Val515=) c.-55+1979C>G (n.-55+1979C>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.125317956C>T | CA441367038 | FAT4 | c.1545C>T (p.Val515=) c.-55+1979C>T (n.-55+1979C>T) | ClinVar dbSNP gnomAD v4 |
4 | g.125317957T>A | CA358118134 | FAT4 | c.1546T>A (p.Ser516Thr) c.-55+1980T>A (n.-55+1980T>A) | |
4 | g.125317957T>C | CA358118135 | FAT4 | c.1546T>C (p.Ser516Pro) c.-55+1980T>C (n.-55+1980T>C) | |
4 | g.125317957T>G | CA358118136 | FAT4 | c.1546T>G (p.Ser516Ala) c.-55+1980T>G (n.-55+1980T>G) | gnomAD v4 |
4 | g.125317958C>A | CA358118139 | FAT4 | c.1547C>A (p.Ser516Tyr) c.-55+1981C>A (n.-55+1981C>A) | |
4 | g.125317958C>G | CA358118138 | FAT4 | c.1547C>G (p.Ser516Cys) c.-55+1981C>G (n.-55+1981C>G) | |
4 | g.125317958C>T | CA358118137 | FAT4 | c.1547C>T (p.Ser516Phe) c.-55+1981C>T (n.-55+1981C>T) | gnomAD v4 |
4 | g.125317959T>A | CA441367047 | FAT4 | c.1548T>A (p.Ser516=) c.-55+1982T>A (n.-55+1982T>A) | |
4 | g.125317959T>C | CA441367048 | FAT4 | c.1548T>C (p.Ser516=) c.-55+1982T>C (n.-55+1982T>C) | ClinVar dbSNP COSMIC COSMIC |
4 | g.125317959T>G | CA441367049 | FAT4 | c.1548T>G (p.Ser516=) c.-55+1982T>G (n.-55+1982T>G) | |
4 | g.125317960G>A | CA358118140 | FAT4 | c.1549G>A (p.Gly517Ser) c.-55+1983G>A (n.-55+1983G>A) | |
4 | g.125317960G>C | CA358118141 | FAT4 | c.1549G>C (p.Gly517Arg) c.-55+1983G>C (n.-55+1983G>C) | |
4 | g.125317960G>T | CA358118142 | FAT4 | c.1549G>T (p.Gly517Cys) c.-55+1983G>T (n.-55+1983G>T) | |
4 | g.125317961G>A | CA358118143 | FAT4 | c.1550G>A (p.Gly517Asp) c.-55+1984G>A (n.-55+1984G>A) | |
4 | g.125317961G>C | CA358118144 | FAT4 | c.1550G>C (p.Gly517Ala) c.-55+1984G>C (n.-55+1984G>C) | |
4 | g.125317961G>T | CA358118145 | FAT4 | c.1550G>T (p.Gly517Val) c.-55+1984G>T (n.-55+1984G>T) | |
4 | g.125317962C>A | CA441367062 | FAT4 | c.1551C>A (p.Gly517=) c.-55+1985C>A (n.-55+1985C>A) | |
4 | g.125317962C= | CA1491601116 | FAT4 | c.1551C= (p.Gly517=) c.-55+1985C= (n.-55+1985C=) | |
4 | g.125317962C>G | CA441367064 | FAT4 | c.1551C>G (p.Gly517=) c.-55+1985C>G (n.-55+1985C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.125317962C>T | CA441367065 | FAT4 | c.1551C>T (p.Gly517=) c.-55+1985C>T (n.-55+1985C>T) | |
4 | g.125317963A>C | CA358118148 | FAT4 | c.1552A>C (p.Asn518His) c.-55+1986A>C (n.-55+1986A>C) | |
4 | g.125317963A>G | CA358118146 | FAT4 | c.1552A>G (p.Asn518Asp) c.-55+1986A>G (n.-55+1986A>G) | gnomAD v4 |
4 | g.125317963A>T | CA358118147 | FAT4 | c.1552A>T (p.Asn518Tyr) c.-55+1986A>T (n.-55+1986A>T) | |
4 | g.125317963_125317964insTCTGATAACTACGGGGCGCCCCCTGGCGCAGCAGTCCTGGCGCGCTCTTCTGTGGCAAGCCTGGTG | CA2672009311 | FAT4 | c.1552_1553insTCTGATAACTACGGGGCGCCCCCTGGCGCAGCAGTCCTGGCGCGCTCTTCTGTGGCAAGCCTGGTG (p.Asn518IlefsTer2) c.-55+1986_-55+1987insTCTGATAACTACGGGGCGCCCCCTGGCGCAGCAGTCCTGGCGCGCTCTTCTGTGGCAAGCCTGGTG (n.-55+1986_-55+1987insTCTGATAACTACGGGGCGCCCCCTGGCGCAGCAGTCCTGGCGCGCTCTTCTGTGGCAAGCCTGGTG) | gnomAD v4 |
4 | g.125317964A= | CA1491601122 | FAT4 | c.1553A= (p.Asn518=) c.-55+1987A= (n.-55+1987A=) | |
4 | g.125317964A>C | CA358118149 | FAT4 | c.1553A>C (p.Asn518Thr) c.-55+1987A>C (n.-55+1987A>C) | |
4 | g.125317964A>G | CA358118150 | FAT4 | c.1553A>G (p.Asn518Ser) c.-55+1987A>G (n.-55+1987A>G) | ClinVar dbSNP gnomAD v4 |
4 | g.125317964A>T | CA358118151 | FAT4 | c.1553A>T (p.Asn518Ile) c.-55+1987A>T (n.-55+1987A>T) | COSMIC COSMIC |
4 | g.125317965T>A | CA358118152 | FAT4 | c.1554T>A (p.Asn518Lys) c.-55+1988T>A (n.-55+1988T>A) | |
4 | g.125317965T>C | CA441367075 | FAT4 | c.1554T>C (p.Asn518=) c.-55+1988T>C (n.-55+1988T>C) | |
4 | g.125317965T>G | CA358118153 | FAT4 | c.1554T>G (p.Asn518Lys) c.-55+1988T>G (n.-55+1988T>G) | |
4 | g.125317966G>A | CA3072008 | FAT4 | c.1555G>A (p.Gly519Arg) c.-55+1989G>A (n.-55+1989G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125317966G>C | CA358118154 | FAT4 | c.1555G>C (p.Gly519Arg) c.-55+1989G>C (n.-55+1989G>C) | |
4 | g.125317966G= | CA1491601129 | FAT4 | c.1555G= (p.Gly519=) c.-55+1989G= (n.-55+1989G=) | |
4 | g.125317966G>T | CA358118155 | FAT4 | c.1555G>T (p.Gly519Ter) c.-55+1989G>T (n.-55+1989G>T) | |
4 | g.125317967G>A | CA358118156 | FAT4 | c.1556G>A (p.Gly519Glu) c.-55+1990G>A (n.-55+1990G>A) | |
4 | g.125317967G>C | CA358118157 | FAT4 | c.1556G>C (p.Gly519Ala) c.-55+1990G>C (n.-55+1990G>C) | |
4 | g.125317967G>T | CA358118158 | FAT4 | c.1556G>T (p.Gly519Val) c.-55+1990G>T (n.-55+1990G>T) | |
4 | g.125317968A>C | CA441367085 | FAT4 | c.1557A>C (p.Gly519=) c.-55+1991A>C (n.-55+1991A>C) | |
4 | g.125317968A>G | CA441367083 | FAT4 | c.1557A>G (p.Gly519=) c.-55+1991A>G (n.-55+1991A>G) | |
4 | g.125317968A>T | CA441367084 | FAT4 | c.1557A>T (p.Gly519=) c.-55+1991A>T (n.-55+1991A>T) | |
4 | g.125317969C>A | CA358118159 | FAT4 | c.1558C>A (p.Leu520Met) c.-55+1992C>A (n.-55+1992C>A) | |
4 | g.125317969C>G | CA358118160 | FAT4 | c.1558C>G (p.Leu520Val) c.-55+1992C>G (n.-55+1992C>G) | gnomAD v4 |
4 | g.125317969C>T | CA441367086 | FAT4 | c.1558C>T (p.Leu520=) c.-55+1992C>T (n.-55+1992C>T) | |
4 | g.125317970T>A | CA358118161 | FAT4 | c.1559T>A (p.Leu520Gln) c.-55+1993T>A (n.-55+1993T>A) | |
4 | g.125317970T>C | CA358118163 | FAT4 | c.1559T>C (p.Leu520Pro) c.-55+1993T>C (n.-55+1993T>C) | |
4 | g.125317970T>G | CA358118162 | FAT4 | c.1559T>G (p.Leu520Arg) c.-55+1993T>G (n.-55+1993T>G) | |
4 | g.125317971G>A | CA441367095 | FAT4 | c.1560G>A (p.Leu520=) c.-55+1994G>A (n.-55+1994G>A) | |
4 | g.125317971G>C | CA441367097 | FAT4 | c.1560G>C (p.Leu520=) c.-55+1994G>C (n.-55+1994G>C) | |
4 | g.125317971G>T | CA441367096 | FAT4 | c.1560G>T (p.Leu520=) c.-55+1994G>T (n.-55+1994G>T) | |
4 | g.125317972G>A | CA358118164 | FAT4 | c.1561G>A (p.Gly521Arg) c.-55+1995G>A (n.-55+1995G>A) | |
4 | g.125317972G>C | CA358118165 | FAT4 | c.1561G>C (p.Gly521Arg) c.-55+1995G>C (n.-55+1995G>C) | |
4 | g.125317972G>T | CA358118166 | FAT4 | c.1561G>T (p.Gly521Ter) c.-55+1995G>T (n.-55+1995G>T) | |
4 | g.125317973G>A | CA358118167 | FAT4 | c.1562G>A (p.Gly521Glu) c.-55+1996G>A (n.-55+1996G>A) | dbSNP gnomAD v4 |
4 | g.125317973G>C | CA358118168 | FAT4 | c.1562G>C (p.Gly521Ala) c.-55+1996G>C (n.-55+1996G>C) | |
4 | g.125317973G= | CA1491601135 | FAT4 | c.1562G= (p.Gly521=) c.-55+1996G= (n.-55+1996G=) | |
4 | g.125317973G>T | CA358118169 | FAT4 | c.1562G>T (p.Gly521Val) c.-55+1996G>T (n.-55+1996G>T) | |
4 | g.125317974A= | CA1491601139 | FAT4 | c.1563A= (p.Gly521=) c.-55+1997A= (n.-55+1997A=) | |
4 | g.125317974A>C | CA441367102 | FAT4 | c.1563A>C (p.Gly521=) c.-55+1997A>C (n.-55+1997A>C) | |
4 | g.125317974A>G | CA441367103 | FAT4 | c.1563A>G (p.Gly521=) c.-55+1997A>G (n.-55+1997A>G) | |
4 | g.125317974A>T | CA3072009 | FAT4 | c.1563A>T (p.Gly521=) c.-55+1997A>T (n.-55+1997A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317975T>A | CA358118170 | FAT4 | c.1564T>A (p.Trp522Arg) c.-55+1998T>A (n.-55+1998T>A) | |
4 | g.125317975T>C | CA358118171 | FAT4 | c.1564T>C (p.Trp522Arg) c.-55+1998T>C (n.-55+1998T>C) | |
4 | g.125317975T>G | CA358118172 | FAT4 | c.1564T>G (p.Trp522Gly) c.-55+1998T>G (n.-55+1998T>G) | |
4 | g.125317976G>A | CA358118173 | FAT4 | c.1565G>A (p.Trp522Ter) c.-55+1999G>A (n.-55+1999G>A) | |
4 | g.125317976G>C | CA358118174 | FAT4 | c.1565G>C (p.Trp522Ser) c.-55+1999G>C (n.-55+1999G>C) | |
4 | g.125317976G>T | CA358118175 | FAT4 | c.1565G>T (p.Trp522Leu) c.-55+1999G>T (n.-55+1999G>T) | gnomAD v4 |
4 | g.125317977G>A | CA358118176 | FAT4 | c.1566G>A (p.Trp522Ter) c.-55+2000G>A (n.-55+2000G>A) | |
4 | g.125317977G>C | CA358118178 | FAT4 | c.1566G>C (p.Trp522Cys) c.-55+2000G>C (n.-55+2000G>C) | |
4 | g.125317977G>T | CA358118177 | FAT4 | c.1566G>T (p.Trp522Cys) c.-55+2000G>T (n.-55+2000G>T) | gnomAD v4 |
4 | g.125317978T>A | CA358118179 | FAT4 | c.1567T>A (p.Phe523Ile) c.-55+2001T>A (n.-55+2001T>A) | |
4 | g.125317978T>C | CA358118180 | FAT4 | c.1567T>C (p.Phe523Leu) c.-55+2001T>C (n.-55+2001T>C) | |
4 | g.125317978T>G | CA358118181 | FAT4 | c.1567T>G (p.Phe523Val) c.-55+2001T>G (n.-55+2001T>G) | |
4 | g.125317979T>A | CA358118182 | FAT4 | c.1568T>A (p.Phe523Tyr) c.-55+2002T>A (n.-55+2002T>A) | |
4 | g.125317979T>C | CA358118183 | FAT4 | c.1568T>C (p.Phe523Ser) c.-55+2002T>C (n.-55+2002T>C) | |
4 | g.125317979T>G | CA358118184 | FAT4 | c.1568T>G (p.Phe523Cys) c.-55+2002T>G (n.-55+2002T>G) | |
4 | g.125317980C>A | CA358118185 | FAT4 | c.1569C>A (p.Phe523Leu) c.-55+2003C>A (n.-55+2003C>A) | |
4 | g.125317980C>G | CA358118186 | FAT4 | c.1569C>G (p.Phe523Leu) c.-55+2003C>G (n.-55+2003C>G) | ClinVar dbSNP gnomAD v4 |
4 | g.125317980C>T | CA441367120 | FAT4 | c.1569C>T (p.Phe523=) c.-55+2003C>T (n.-55+2003C>T) | |
4 | g.125317981C>A | CA358118187 | FAT4 | c.1570C>A (p.His524Asn) c.-55+2004C>A (n.-55+2004C>A) | |
4 | g.125317981C>G | CA358118188 | FAT4 | c.1570C>G (p.His524Asp) c.-55+2004C>G (n.-55+2004C>G) | |
4 | g.125317981C>T | CA358118189 | FAT4 | c.1570C>T (p.His524Tyr) c.-55+2004C>T (n.-55+2004C>T) | |
4 | g.125317982A= | CA1491601144 | FAT4 | c.1571A= (p.His524=) c.-55+2005A= (n.-55+2005A=) | |
4 | g.125317982A>C | CA358118191 | FAT4 | c.1571A>C (p.His524Pro) c.-55+2005A>C (n.-55+2005A>C) | dbSNP |
4 | g.125317982A>G | CA3072010 | FAT4 | c.1571A>G (p.His524Arg) c.-55+2005A>G (n.-55+2005A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317982A>T | CA358118190 | FAT4 | c.1571A>T (p.His524Leu) c.-55+2005A>T (n.-55+2005A>T) | |
4 | g.125317983T>A | CA358118192 | FAT4 | c.1572T>A (p.His524Gln) c.-55+2006T>A (n.-55+2006T>A) | |
4 | g.125317983T>C | CA441367131 | FAT4 | c.1572T>C (p.His524=) c.-55+2006T>C (n.-55+2006T>C) | dbSNP gnomAD v4 |
4 | g.125317983T>G | CA358118193 | FAT4 | c.1572T>G (p.His524Gln) c.-55+2006T>G (n.-55+2006T>G) | |
4 | g.125317983T= | CA1491601150 | FAT4 | c.1572T= (p.His524=) c.-55+2006T= (n.-55+2006T=) | |
4 | g.125317984A>C | CA358118194 | FAT4 | c.1573A>C (p.Ile525Leu) c.-55+2007A>C (n.-55+2007A>C) | |
4 | g.125317984A>G | CA358118195 | FAT4 | c.1573A>G (p.Ile525Val) c.-55+2007A>G (n.-55+2007A>G) | gnomAD v4 |
4 | g.125317984A>T | CA358118196 | FAT4 | c.1573A>T (p.Ile525Phe) c.-55+2007A>T (n.-55+2007A>T) | |
4 | g.125317985T>A | CA358118197 | FAT4 | c.1574T>A (p.Ile525Asn) c.-55+2008T>A (n.-55+2008T>A) | |
4 | g.125317985T>C | CA358118198 | FAT4 | c.1574T>C (p.Ile525Thr) c.-55+2008T>C (n.-55+2008T>C) | |
4 | g.125317985T>G | CA358118199 | FAT4 | c.1574T>G (p.Ile525Ser) c.-55+2008T>G (n.-55+2008T>G) | gnomAD v4 |
4 | g.125317986C>A | CA441367137 | FAT4 | c.1575C>A (p.Ile525=) c.-55+2009C>A (n.-55+2009C>A) | |
4 | g.125317986C>G | CA358118200 | FAT4 | c.1575C>G (p.Ile525Met) c.-55+2009C>G (n.-55+2009C>G) | COSMIC COSMIC |
4 | g.125317986C>T | CA441367139 | FAT4 | c.1575C>T (p.Ile525=) c.-55+2009C>T (n.-55+2009C>T) | gnomAD v4 COSMIC COSMIC |
4 | g.125317987A>C | CA358118201 | FAT4 | c.1576A>C (p.Ser526Arg) c.-55+2010A>C (n.-55+2010A>C) | |
4 | g.125317987A>G | CA358118202 | FAT4 | c.1576A>G (p.Ser526Gly) c.-55+2010A>G (n.-55+2010A>G) | gnomAD v4 |
4 | g.125317987A>T | CA358118203 | FAT4 | c.1576A>T (p.Ser526Cys) c.-55+2010A>T (n.-55+2010A>T) | |
4 | g.125317988G>A | CA358118204 | FAT4 | c.1577G>A (p.Ser526Asn) c.-55+2011G>A (n.-55+2011G>A) | dbSNP |
4 | g.125317988G>C | CA358118205 | FAT4 | c.1577G>C (p.Ser526Thr) c.-55+2011G>C (n.-55+2011G>C) | dbSNP gnomAD v4 |
4 | g.125317988G= | CA1491601154 | FAT4 | c.1577G= (p.Ser526=) c.-55+2011G= (n.-55+2011G=) | |
4 | g.125317988G>T | CA358118206 | FAT4 | c.1577G>T (p.Ser526Ile) c.-55+2011G>T (n.-55+2011G>T) | |
4 | g.125317989T>A | CA358118208 | FAT4 | c.1578T>A (p.Ser526Arg) c.-55+2012T>A (n.-55+2012T>A) | |
4 | g.125317989T>C | CA441367142 | FAT4 | c.1578T>C (p.Ser526=) c.-55+2012T>C (n.-55+2012T>C) | |
4 | g.125317989T>G | CA358118207 | FAT4 | c.1578T>G (p.Ser526Arg) c.-55+2012T>G (n.-55+2012T>G) | |
4 | g.125317990G>A | CA358118209 | FAT4 | c.1579G>A (p.Glu527Lys) c.-55+2013G>A (n.-55+2013G>A) | gnomAD v4 |
4 | g.125317990G>C | CA358118210 | FAT4 | c.1579G>C (p.Glu527Gln) c.-55+2013G>C (n.-55+2013G>C) | |
4 | g.125317990G>T | CA358118211 | FAT4 | c.1579G>T (p.Glu527Ter) c.-55+2013G>T (n.-55+2013G>T) | |
4 | g.125317991A>C | CA358118212 | FAT4 | c.1580A>C (p.Glu527Ala) c.-55+2014A>C (n.-55+2014A>C) | |
4 | g.125317991A>G | CA358118213 | FAT4 | c.1580A>G (p.Glu527Gly) c.-55+2014A>G (n.-55+2014A>G) | |
4 | g.125317991A>T | CA358118214 | FAT4 | c.1580A>T (p.Glu527Val) c.-55+2014A>T (n.-55+2014A>T) | |
4 | g.125317992A= | CA1491601163 | FAT4 | c.1581A= (p.Glu527=) c.-55+2015A= (n.-55+2015A=) | |
4 | g.125317992A>C | CA358118215 | FAT4 | c.1581A>C (p.Glu527Asp) c.-55+2015A>C (n.-55+2015A>C) | |
4 | g.125317992A>G | CA441367154 | FAT4 | c.1581A>G (p.Glu527=) c.-55+2015A>G (n.-55+2015A>G) | |
4 | g.125317992A>T | CA104864172 | FAT4 | c.1581A>T (p.Glu527Asp) c.-55+2015A>T (n.-55+2015A>T) | dbSNP gnomAD v4 |
4 | g.125317993C>A | CA358118216 | FAT4 | c.1582C>A (p.His528Asn) c.-55+2016C>A (n.-55+2016C>A) | |
4 | g.125317993C= | CA1491601169 | FAT4 | c.1582C= (p.His528=) c.-55+2016C= (n.-55+2016C=) | |
4 | g.125317993C>G | CA358118217 | FAT4 | c.1582C>G (p.His528Asp) c.-55+2016C>G (n.-55+2016C>G) | |
4 | g.125317993C>T | CA3072011 | FAT4 | c.1582C>T (p.His528Tyr) c.-55+2016C>T (n.-55+2016C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125317994A>C | CA358118218 | FAT4 | c.1583A>C (p.His528Pro) c.-55+2017A>C (n.-55+2017A>C) | |
4 | g.125317994A>G | CA358118219 | FAT4 | c.1583A>G (p.His528Arg) c.-55+2017A>G (n.-55+2017A>G) | |
4 | g.125317994A>T | CA358118220 | FAT4 | c.1583A>T (p.His528Leu) c.-55+2017A>T (n.-55+2017A>T) | |
4 | g.125317995T>A | CA3072012 | FAT4 | c.1584T>A (p.His528Gln) c.-55+2018T>A (n.-55+2018T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317995T>C | CA3072013 | FAT4 | c.1584T>C (p.His528=) c.-55+2018T>C (n.-55+2018T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125317995T>G | CA358118221 | FAT4 | c.1584T>G (p.His528Gln) c.-55+2018T>G (n.-55+2018T>G) | |
4 | g.125317995T= | CA1491601177 | FAT4 | c.1584T= (p.His528=) c.-55+2018T= (n.-55+2018T=) | |
4 | g.125317996A>C | CA358118222 | FAT4 | c.1585A>C (p.Ser529Arg) c.-55+2019A>C (n.-55+2019A>C) | |
4 | g.125317996A>G | CA358118223 | FAT4 | c.1585A>G (p.Ser529Gly) c.-55+2019A>G (n.-55+2019A>G) | gnomAD v4 |
4 | g.125317996A>T | CA358118224 | FAT4 | c.1585A>T (p.Ser529Cys) c.-55+2019A>T (n.-55+2019A>T) | |
4 | g.125317997G>A | CA358118225 | FAT4 | c.1586G>A (p.Ser529Asn) c.-55+2020G>A (n.-55+2020G>A) | |
4 | g.125317997G>C | CA358118226 | FAT4 | c.1586G>C (p.Ser529Thr) c.-55+2020G>C (n.-55+2020G>C) | COSMIC COSMIC |
4 | g.125317997G>T | CA358118227 | FAT4 | c.1586G>T (p.Ser529Ile) c.-55+2020G>T (n.-55+2020G>T) | |
4 | g.125317998C>A | CA358118228 | FAT4 | c.1587C>A (p.Ser529Arg) c.-55+2021C>A (n.-55+2021C>A) | |
4 | g.125317998C= | CA1491601181 | FAT4 | c.1587C= (p.Ser529=) c.-55+2021C= (n.-55+2021C=) | |
4 | g.125317998C>G | CA358118229 | FAT4 | c.1587C>G (p.Ser529Arg) c.-55+2021C>G (n.-55+2021C>G) | |
4 | g.125317998C>T | CA3072014 | FAT4 | c.1587C>T (p.Ser529=) c.-55+2021C>T (n.-55+2021C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.125317999G>A | CA358118230 | FAT4 | c.1588G>A (p.Gly530Ser) c.-55+2022G>A (n.-55+2022G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.125317999G>C | CA358118231 | FAT4 | c.1588G>C (p.Gly530Arg) c.-55+2022G>C (n.-55+2022G>C) | |
4 | g.125317999G= | CA1491601187 | FAT4 | c.1588G= (p.Gly530=) c.-55+2022G= (n.-55+2022G=) | |
4 | g.125317999G>T | CA358118232 | FAT4 | c.1588G>T (p.Gly530Cys) c.-55+2022G>T (n.-55+2022G>T) | |
4 | g.125318000G>A | CA358118234 | FAT4 | c.1589G>A (p.Gly530Asp) c.-55+2023G>A (n.-55+2023G>A) | |
4 | g.125318000G>C | CA358118235 | FAT4 | c.1589G>C (p.Gly530Ala) c.-55+2023G>C (n.-55+2023G>C) | |
4 | g.125318000G>T | CA358118233 | FAT4 | c.1589G>T (p.Gly530Val) c.-55+2023G>T (n.-55+2023G>T) | gnomAD v4 |
4 | g.125318001C>A | CA441367174 | FAT4 | c.1590C>A (p.Gly530=) c.-55+2024C>A (n.-55+2024C>A) | gnomAD v4 |
4 | g.125318001C= | CA1491601189 | FAT4 | c.1590C= (p.Gly530=) c.-55+2024C= (n.-55+2024C=) | |
4 | g.125318001C>G | CA441367175 | FAT4 | c.1590C>G (p.Gly530=) c.-55+2024C>G (n.-55+2024C>G) | |
4 | g.125318001C>T | CA441367176 | FAT4 | c.1590C>T (p.Gly530=) c.-55+2024C>T (n.-55+2024C>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.125318002C>A | CA3072015 | FAT4 | c.1591C>A (p.Leu531Ile) c.-55+2025C>A (n.-55+2025C>A) | dbSNP ExAC gnomAD v2 |
4 | g.125318002C= | CA1491601195 | FAT4 | c.1591C= (p.Leu531=) c.-55+2025C= (n.-55+2025C=) | |
4 | g.125318002C>G | CA358118236 | FAT4 | c.1591C>G (p.Leu531Val) c.-55+2025C>G (n.-55+2025C>G) | |
4 | g.125318002C>T | CA358118237 | FAT4 | c.1591C>T (p.Leu531Phe) c.-55+2025C>T (n.-55+2025C>T) | |
4 | g.125318003T>A | CA358118238 | FAT4 | c.1592T>A (p.Leu531His) c.-55+2026T>A (n.-55+2026T>A) | |
4 | g.125318003T>C | CA358118239 | FAT4 | c.1592T>C (p.Leu531Pro) c.-55+2026T>C (n.-55+2026T>C) | |
4 | g.125318003T>G | CA358118240 | FAT4 | c.1592T>G (p.Leu531Arg) c.-55+2026T>G (n.-55+2026T>G) | |
4 | g.125318004C>A | CA441367181 | FAT4 | c.1593C>A (p.Leu531=) c.-55+2027C>A (n.-55+2027C>A) | |
4 | g.125318004C= | CA1491601205 | FAT4 | c.1593C= (p.Leu531=) c.-55+2027C= (n.-55+2027C=) | |
4 | g.125318004C>G | CA441367182 | FAT4 | c.1593C>G (p.Leu531=) c.-55+2027C>G (n.-55+2027C>G) | ClinVar gnomAD v4 |
4 | g.125318004C>T | CA3072016 | FAT4 | c.1593C>T (p.Leu531=) c.-55+2027C>T (n.-55+2027C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
4 | g.125318005G>A | CA3072017 | FAT4 | c.1594G>A (p.Val532Met) c.-55+2028G>A (n.-55+2028G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125318005G>C | CA358118241 | FAT4 | c.1594G>C (p.Val532Leu) c.-55+2028G>C (n.-55+2028G>C) | dbSNP gnomAD v4 |
4 | g.125318005G= | CA1491601210 | FAT4 | c.1594G= (p.Val532=) c.-55+2028G= (n.-55+2028G=) | |
4 | g.125318005G>T | CA358118242 | FAT4 | c.1594G>T (p.Val532Leu) c.-55+2028G>T (n.-55+2028G>T) | |
4 | g.125318006T>A | CA358118243 | FAT4 | c.1595T>A (p.Val532Glu) c.-55+2029T>A (n.-55+2029T>A) | |
4 | g.125318006T>C | CA358118244 | FAT4 | c.1595T>C (p.Val532Ala) c.-55+2029T>C (n.-55+2029T>C) | |
4 | g.125318006T>G | CA358118245 | FAT4 | c.1595T>G (p.Val532Gly) c.-55+2029T>G (n.-55+2029T>G) | |
4 | g.125318007_125318020del | CA2672009312 | FAT4 | c.1596_1609del (p.Thr533TrpfsTer6) c.-55+2030_-55+2043del (n.-55+2030_-55+2043del) | gnomAD v4 |
4 | g.125318007G>A | CA441367190 | FAT4 | c.1596G>A (p.Val532=) c.-55+2030G>A (n.-55+2030G>A) | gnomAD v4 |
4 | g.125318007G>C | CA441367192 | FAT4 | c.1596G>C (p.Val532=) c.-55+2030G>C (n.-55+2030G>C) | gnomAD v4 |
4 | g.125318007G>T | CA441367195 | FAT4 | c.1596G>T (p.Val532=) c.-55+2030G>T (n.-55+2030G>T) | |
4 | g.125318008A= | CA1491601220 | FAT4 | c.1597A= (p.Thr533=) c.-55+2031A= (n.-55+2031A=) | |
4 | g.125318008A>C | CA358118248 | FAT4 | c.1597A>C (p.Thr533Pro) c.-55+2031A>C (n.-55+2031A>C) | |
4 | g.125318008A>G | CA358118246 | FAT4 | c.1597A>G (p.Thr533Ala) c.-55+2031A>G (n.-55+2031A>G) | dbSNP |
4 | g.125318008A>T | CA358118247 | FAT4 | c.1597A>T (p.Thr533Ser) c.-55+2031A>T (n.-55+2031A>T) | |
4 | g.125318008_125318017delinsACCACTGGGT | CA1491601219 | FAT4 | c.1597_1606delinsACCACTGGGT (p.Thr533=) c.-55+2031_-55+2040delinsACCACTGGGT (n.-55+2031_-55+2040delinsACCACTGGGT) | |
4 | g.125318009C>A | CA358118249 | FAT4 | c.1598C>A (p.Thr533Asn) c.-55+2032C>A (n.-55+2032C>A) | |
4 | g.125318009C>G | CA358118251 | FAT4 | c.1598C>G (p.Thr533Ser) c.-55+2032C>G (n.-55+2032C>G) | |
4 | g.125318009C>T | CA358118250 | FAT4 | c.1598C>T (p.Thr533Ile) c.-55+2032C>T (n.-55+2032C>T) | |
4 | g.125318010del | CA2580071537 | FAT4 | c.1599del (p.Thr534LeufsTer17) c.-55+2033del (n.-55+2033del) | ClinVar |
4 | g.125318011_125318019del | CA555019271 | FAT4 | c.1600_1608del (p.Thr534_Ser536del) c.-55+2034_-55+2042del (n.-55+2034_-55+2042del) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125318010C>A | CA441366481 | FAT4 | c.1599C>A (p.Thr533=) c.-55+2033C>A (n.-55+2033C>A) | |
4 | g.125318010C= | CA1491601230 | FAT4 | c.1599C= (p.Thr533=) c.-55+2033C= (n.-55+2033C=) | |
4 | g.125318010C>G | CA441366483 | FAT4 | c.1599C>G (p.Thr533=) c.-55+2033C>G (n.-55+2033C>G) | |
4 | g.125318010C>T | CA104864225 | FAT4 | c.1599C>T (p.Thr533=) c.-55+2033C>T (n.-55+2033C>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125318011A>C | CA358118252 | FAT4 | c.1600A>C (p.Thr534Pro) c.-55+2034A>C (n.-55+2034A>C) | |
4 | g.125318011A>G | CA358118253 | FAT4 | c.1600A>G (p.Thr534Ala) c.-55+2034A>G (n.-55+2034A>G) | gnomAD v4 |
4 | g.125318011A>T | CA358118254 | FAT4 | c.1600A>T (p.Thr534Ser) c.-55+2034A>T (n.-55+2034A>T) | |
4 | g.125318011_125318013del | CA2672009313 | FAT4 | c.1600_1602del (p.Thr534del) c.-55+2034_-55+2036del (n.-55+2034_-55+2036del) | gnomAD v4 |
4 | g.125318012C>A | CA358118255 | FAT4 | c.1601C>A (p.Thr534Asn) c.-55+2035C>A (n.-55+2035C>A) | |
4 | g.125318012C>G | CA358118256 | FAT4 | c.1601C>G (p.Thr534Ser) c.-55+2035C>G (n.-55+2035C>G) | |
4 | g.125318012C>T | CA358118257 | FAT4 | c.1601C>T (p.Thr534Ile) c.-55+2035C>T (n.-55+2035C>T) | |
4 | g.125318013T>A | CA441366485 | FAT4 | c.1602T>A (p.Thr534=) c.-55+2036T>A (n.-55+2036T>A) | COSMIC COSMIC |
4 | g.125318013T>C | CA441366486 | FAT4 | c.1602T>C (p.Thr534=) c.-55+2036T>C (n.-55+2036T>C) | |
4 | g.125318013T>G | CA441366488 | FAT4 | c.1602T>G (p.Thr534=) c.-55+2036T>G (n.-55+2036T>G) | |
4 | g.125318013T= | CA1491601235 | FAT4 | c.1602T= (p.Thr534=) c.-55+2036T= (n.-55+2036T=) | |
4 | g.125318014G>A | CA358118258 | FAT4 | c.1603G>A (p.Gly535Arg) c.-55+2037G>A (n.-55+2037G>A) | |
4 | g.125318014G>C | CA358118259 | FAT4 | c.1603G>C (p.Gly535Arg) c.-55+2037G>C (n.-55+2037G>C) | |
4 | g.125318014G>T | CA358118260 | FAT4 | c.1603G>T (p.Gly535Trp) c.-55+2037G>T (n.-55+2037G>T) | |
4 | g.125318016dup | CA104864230 | FAT4 | c.1605dup (p.Ser536ValfsTer8) c.-55+2039dup (n.-55+2039dup) | dbSNP |
4 | g.125318015G>A | CA358118261 | FAT4 | c.1604G>A (p.Gly535Glu) c.-55+2038G>A (n.-55+2038G>A) | |
4 | g.125318015G>C | CA358118262 | FAT4 | c.1604G>C (p.Gly535Ala) c.-55+2038G>C (n.-55+2038G>C) | |
4 | g.125318015G>T | CA358118263 | FAT4 | c.1604G>T (p.Gly535Val) c.-55+2038G>T (n.-55+2038G>T) | |
4 | g.125318015_125318020del | CA2672009314 | FAT4 | c.1604_1609del (p.Gly535_Ser537delinsAla) c.-55+2038_-55+2043del (n.-55+2038_-55+2043del) | gnomAD v4 |
4 | g.125318016G>A | CA3072018 | FAT4 | c.1605G>A (p.Gly535=) c.-55+2039G>A (n.-55+2039G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125318016G>C | CA441366491 | FAT4 | c.1605G>C (p.Gly535=) c.-55+2039G>C (n.-55+2039G>C) | |
4 | g.125318016G= | CA1491601240 | FAT4 | c.1605G= (p.Gly535=) c.-55+2039G= (n.-55+2039G=) | |
4 | g.125318016G>T | CA441366492 | FAT4 | c.1605G>T (p.Gly535=) c.-55+2039G>T (n.-55+2039G>T) | |
4 | g.125318017T>A | CA358118264 | FAT4 | c.1606T>A (p.Ser536Thr) c.-55+2040T>A (n.-55+2040T>A) | |
4 | g.125318017T>C | CA358118265 | FAT4 | c.1606T>C (p.Ser536Pro) c.-55+2040T>C (n.-55+2040T>C) | gnomAD v4 |
4 | g.125318017T>G | CA358118266 | FAT4 | c.1606T>G (p.Ser536Ala) c.-55+2040T>G (n.-55+2040T>G) | |
4 | g.125318017_125318018del | CA2555841526 | FAT4 | c.1606_1607del (p.Ser536LeufsTer7) c.-55+2040_-55+2041del (n.-55+2040_-55+2041del) | |
4 | g.125318018C>A | CA358118267 | FAT4 | c.1607C>A (p.Ser536Tyr) c.-55+2041C>A (n.-55+2041C>A) | |
4 | g.125318018C= | CA1491601242 | FAT4 | c.1607C= (p.Ser536=) c.-55+2041C= (n.-55+2041C=) | |
4 | g.125318018C>G | CA358118268 | FAT4 | c.1607C>G (p.Ser536Cys) c.-55+2041C>G (n.-55+2041C>G) | |
4 | g.125318018C>T | CA358118269 | FAT4 | c.1607C>T (p.Ser536Phe) c.-55+2041C>T (n.-55+2041C>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125318019C>A | CA441366498 | FAT4 | c.1608C>A (p.Ser536=) c.-55+2042C>A (n.-55+2042C>A) | |
4 | g.125318019C= | CA1491601253 | FAT4 | c.1608C= (p.Ser536=) c.-55+2042C= (n.-55+2042C=) | |
4 | g.125318019C>G | CA441366497 | FAT4 | c.1608C>G (p.Ser536=) c.-55+2042C>G (n.-55+2042C>G) | |
4 | g.125318019C>T | CA3072019 | FAT4 | c.1608C>T (p.Ser536=) c.-55+2042C>T (n.-55+2042C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125318020T>A | CA358118270 | FAT4 | c.1609T>A (p.Ser537Thr) c.-55+2043T>A (n.-55+2043T>A) | |
4 | g.125318020T>C | CA358118271 | FAT4 | c.1609T>C (p.Ser537Pro) c.-55+2043T>C (n.-55+2043T>C) | |
4 | g.125318020T>G | CA358118272 | FAT4 | c.1609T>G (p.Ser537Ala) c.-55+2043T>G (n.-55+2043T>G) | |
4 | g.125318020_125318021insTG | CA2533178175 | FAT4 | c.1609_1610insTG (p.Ser537LeufsTer15) c.-55+2043_-55+2044insTG (n.-55+2043_-55+2044insTG) | |
4 | g.125318021C>A | CA358118273 | FAT4 | c.1610C>A (p.Ser537Tyr) c.-55+2044C>A (n.-55+2044C>A) | |
4 | g.125318021C>G | CA358118274 | FAT4 | c.1610C>G (p.Ser537Cys) c.-55+2044C>G (n.-55+2044C>G) | |
4 | g.125318021C>T | CA358118275 | FAT4 | c.1610C>T (p.Ser537Phe) c.-55+2044C>T (n.-55+2044C>T) | |
4 | g.125318022T>A | CA441366500 | FAT4 | c.1611T>A (p.Ser537=) c.-55+2045T>A (n.-55+2045T>A) | |
4 | g.125318022T>C | CA3072020 | FAT4 | c.1611T>C (p.Ser537=) c.-55+2045T>C (n.-55+2045T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125318022T>G | CA441366503 | FAT4 | c.1611T>G (p.Ser537=) c.-55+2045T>G (n.-55+2045T>G) | |
4 | g.125318022T= | CA1491601259 | FAT4 | c.1611T= (p.Ser537=) c.-55+2045T= (n.-55+2045T=) | |
4 | g.125318023G>A | CA358118276 | FAT4 | c.1612G>A (p.Gly538Arg) c.-55+2046G>A (n.-55+2046G>A) | |
4 | g.125318023G>C | CA358118278 | FAT4 | c.1612G>C (p.Gly538Arg) c.-55+2046G>C (n.-55+2046G>C) | |
4 | g.125318023G>T | CA358118277 | FAT4 | c.1612G>T (p.Gly538Trp) c.-55+2046G>T (n.-55+2046G>T) | gnomAD v4 |
4 | g.125318024G>A | CA358118279 | FAT4 | c.1613G>A (p.Gly538Glu) c.-55+2047G>A (n.-55+2047G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125318024G>C | CA358118280 | FAT4 | c.1613G>C (p.Gly538Ala) c.-55+2047G>C (n.-55+2047G>C) | |
4 | g.125318024G= | CA1491601266 | FAT4 | c.1613G= (p.Gly538=) c.-55+2047G= (n.-55+2047G=) | |
4 | g.125318024G>T | CA358118281 | FAT4 | c.1613G>T (p.Gly538Val) c.-55+2047G>T (n.-55+2047G>T) | |
4 | g.125318025G>A | CA441366505 | FAT4 | c.1614G>A (p.Gly538=) c.-55+2048G>A (n.-55+2048G>A) | gnomAD v4 COSMIC COSMIC |
4 | g.125318025G>C | CA441366506 | FAT4 | c.1614G>C (p.Gly538=) c.-55+2048G>C (n.-55+2048G>C) | |
4 | g.125318025G>T | CA441366507 | FAT4 | c.1614G>T (p.Gly538=) c.-55+2048G>T (n.-55+2048G>T) | |
4 | g.125318026G>A | CA358118282 | FAT4 | c.1615G>A (p.Gly539Ser) c.-55+2049G>A (n.-55+2049G>A) | dbSNP gnomAD v4 |
4 | g.125318026G>C | CA358118283 | FAT4 | c.1615G>C (p.Gly539Arg) c.-55+2049G>C (n.-55+2049G>C) | |
4 | g.125318026G>T | CA358118284 | FAT4 | c.1615G>T (p.Gly539Cys) c.-55+2049G>T (n.-55+2049G>T) | |
4 | g.125318027G>A | CA358118285 | FAT4 | c.1616G>A (p.Gly539Asp) c.-55+2050G>A (n.-55+2050G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125318027G>C | CA358118286 | FAT4 | c.1616G>C (p.Gly539Ala) c.-55+2050G>C (n.-55+2050G>C) | |
4 | g.125318027G= | CA1491601273 | FAT4 | c.1616G= (p.Gly539=) c.-55+2050G= (n.-55+2050G=) | |
4 | g.125318027G>T | CA104864268 | FAT4 | c.1616G>T (p.Gly539Val) c.-55+2050G>T (n.-55+2050G>T) | dbSNP gnomAD v4 |
4 | g.125318028C>A | CA441366512 | FAT4 | c.1617C>A (p.Gly539=) c.-55+2051C>A (n.-55+2051C>A) | |
4 | g.125318028C= | CA1491601278 | FAT4 | c.1617C= (p.Gly539=) c.-55+2051C= (n.-55+2051C=) | |
4 | g.125318028C>G | CA441366514 | FAT4 | c.1617C>G (p.Gly539=) c.-55+2051C>G (n.-55+2051C>G) | |
4 | g.125318028C>T | CA3072021 | FAT4 | c.1617C>T (p.Gly539=) c.-55+2051C>T (n.-55+2051C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125318029C>A | CA104864273 | FAT4 | c.1618C>A (p.Leu540Met) c.-55+2052C>A (n.-55+2052C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.125318029C= | CA1491601282 | FAT4 | c.1618C= (p.Leu540=) c.-55+2052C= (n.-55+2052C=) | |
4 | g.125318029C>G | CA358118287 | FAT4 | c.1618C>G (p.Leu540Val) c.-55+2052C>G (n.-55+2052C>G) | |
4 | g.125318029C>T | CA441366515 | FAT4 | c.1618C>T (p.Leu540=) c.-55+2052C>T (n.-55+2052C>T) | |
4 | g.125318030T>A | CA358118290 | FAT4 | c.1619T>A (p.Leu540Gln) c.-55+2053T>A (n.-55+2053T>A) | |
4 | g.125318030T>C | CA358118289 | FAT4 | c.1619T>C (p.Leu540Pro) c.-55+2053T>C (n.-55+2053T>C) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125318030T>G | CA358118288 | FAT4 | c.1619T>G (p.Leu540Arg) c.-55+2053T>G (n.-55+2053T>G) | ClinVar dbSNP |
4 | g.125318030T= | CA1491601290 | FAT4 | c.1619T= (p.Leu540=) c.-55+2053T= (n.-55+2053T=) | |
4 | g.125318031G>A | CA441366517 | FAT4 | c.1620G>A (p.Leu540=) c.-55+2054G>A (n.-55+2054G>A) | gnomAD v4 |
4 | g.125318031G>C | CA441366518 | FAT4 | c.1620G>C (p.Leu540=) c.-55+2054G>C (n.-55+2054G>C) | |
4 | g.125318031G>T | CA441366520 | FAT4 | c.1620G>T (p.Leu540=) c.-55+2054G>T (n.-55+2054G>T) | |
4 | g.125318032G>A | CA358118291 | FAT4 | c.1621G>A (p.Asp541Asn) c.-55+2055G>A (n.-55+2055G>A) | |
4 | g.125318032G>C | CA358118292 | FAT4 | c.1621G>C (p.Asp541His) c.-55+2055G>C (n.-55+2055G>C) | |
4 | g.125318032G>T | CA358118293 | FAT4 | c.1621G>T (p.Asp541Tyr) c.-55+2055G>T (n.-55+2055G>T) | |
4 | g.125318033A>C | CA358118294 | FAT4 | c.1622A>C (p.Asp541Ala) c.-55+2056A>C (n.-55+2056A>C) | |
4 | g.125318033A>G | CA358118295 | FAT4 | c.1622A>G (p.Asp541Gly) c.-55+2056A>G (n.-55+2056A>G) | |
4 | g.125318033A>T | CA358118296 | FAT4 | c.1622A>T (p.Asp541Val) c.-55+2056A>T (n.-55+2056A>T) | |
4 | g.125318034C>A | CA358118297 | FAT4 | c.1623C>A (p.Asp541Glu) c.-55+2057C>A (n.-55+2057C>A) | |
4 | g.125318034C= | CA1491601300 | FAT4 | c.1623C= (p.Asp541=) c.-55+2057C= (n.-55+2057C=) | |
4 | g.125318034C>G | CA358118298 | FAT4 | c.1623C>G (p.Asp541Glu) c.-55+2057C>G (n.-55+2057C>G) | |
4 | g.125318034C>T | CA104864279 | FAT4 | c.1623C>T (p.Asp541=) c.-55+2057C>T (n.-55+2057C>T) | dbSNP gnomAD v4 |
4 | g.125318035C>A | CA358118299 | FAT4 | c.1624C>A (p.Arg542Ser) c.-55+2058C>A (n.-55+2058C>A) | |
4 | g.125318035C>G | CA358118300 | FAT4 | c.1624C>G (p.Arg542Gly) c.-55+2058C>G (n.-55+2058C>G) | |
4 | g.125318035C>T | CA358118301 | FAT4 | c.1624C>T (p.Arg542Cys) c.-55+2058C>T (n.-55+2058C>T) | ClinVar gnomAD v3 gnomAD v4 |
4 | g.125318036G>A | CA358118304 | FAT4 | c.1625G>A (p.Arg542His) c.-55+2059G>A (n.-55+2059G>A) | dbSNP gnomAD v4 |
4 | g.125318036G>C | CA358118302 | FAT4 | c.1625G>C (p.Arg542Pro) c.-55+2059G>C (n.-55+2059G>C) | |
4 | g.125318036G= | CA1491601309 | FAT4 | c.1625G= (p.Arg542=) c.-55+2059G= (n.-55+2059G=) | |
4 | g.125318036G>T | CA358118303 | FAT4 | c.1625G>T (p.Arg542Leu) c.-55+2059G>T (n.-55+2059G>T) | |
4 | g.125318036_125318039dup | CA2672009315 | FAT4 | c.1625_1628dup (p.Leu544Ter) c.-55+2059_-55+2062dup (n.-55+2059_-55+2062dup) | gnomAD v4 |
4 | g.125318037T>A | CA441366525 | FAT4 | c.1626T>A (p.Arg542=) c.-55+2060T>A (n.-55+2060T>A) | |
4 | g.125318037T>C | CA441366527 | FAT4 | c.1626T>C (p.Arg542=) c.-55+2060T>C (n.-55+2060T>C) | |
4 | g.125318037T>G | CA441366529 | FAT4 | c.1626T>G (p.Arg542=) c.-55+2060T>G (n.-55+2060T>G) | |
4 | g.125318038G>A | CA358118305 | FAT4 | c.1627G>A (p.Glu543Lys) c.-55+2061G>A (n.-55+2061G>A) | |
4 | g.125318038G>C | CA358118307 | FAT4 | c.1627G>C (p.Glu543Gln) c.-55+2061G>C (n.-55+2061G>C) | |
4 | g.125318038G>T | CA358118306 | FAT4 | c.1627G>T (p.Glu543Ter) c.-55+2061G>T (n.-55+2061G>T) | |
4 | g.125318039A>C | CA358118308 | FAT4 | c.1628A>C (p.Glu543Ala) c.-55+2062A>C (n.-55+2062A>C) | |
4 | g.125318039A>G | CA358118309 | FAT4 | c.1628A>G (p.Glu543Gly) c.-55+2062A>G (n.-55+2062A>G) | gnomAD v4 |
4 | g.125318039A>T | CA358118310 | FAT4 | c.1628A>T (p.Glu543Val) c.-55+2062A>T (n.-55+2062A>T) | |
4 | g.125318040A= | CA1491601315 | FAT4 | c.1629A= (p.Glu543=) c.-55+2063A= (n.-55+2063A=) | |
4 | g.125318040A>C | CA358118311 | FAT4 | c.1629A>C (p.Glu543Asp) c.-55+2063A>C (n.-55+2063A>C) | |
4 | g.125318040A>G | CA441366532 | FAT4 | c.1629A>G (p.Glu543=) c.-55+2063A>G (n.-55+2063A>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125318040A>T | CA358118312 | FAT4 | c.1629A>T (p.Glu543Asp) c.-55+2063A>T (n.-55+2063A>T) | |
4 | g.125318041C>A | CA358118313 | FAT4 | c.1630C>A (p.Leu544Ile) c.-55+2064C>A (n.-55+2064C>A) | |
4 | g.125318041C>G | CA358118314 | FAT4 | c.1630C>G (p.Leu544Val) c.-55+2064C>G (n.-55+2064C>G) | |
4 | g.125318041C>T | CA358118315 | FAT4 | c.1630C>T (p.Leu544Phe) c.-55+2064C>T (n.-55+2064C>T) | |
4 | g.125318042T>A | CA358118316 | FAT4 | c.1631T>A (p.Leu544His) c.-55+2065T>A (n.-55+2065T>A) | |
4 | g.125318042T>C | CA358118317 | FAT4 | c.1631T>C (p.Leu544Pro) c.-55+2065T>C (n.-55+2065T>C) | |
4 | g.125318042T>G | CA358118318 | FAT4 | c.1631T>G (p.Leu544Arg) c.-55+2065T>G (n.-55+2065T>G) | |
4 | g.125318043T>A | CA441366534 | FAT4 | c.1632T>A (p.Leu544=) c.-55+2066T>A (n.-55+2066T>A) | |
4 | g.125318043T>C | CA441366535 | FAT4 | c.1632T>C (p.Leu544=) c.-55+2066T>C (n.-55+2066T>C) | |
4 | g.125318043T>G | CA441366536 | FAT4 | c.1632T>G (p.Leu544=) c.-55+2066T>G (n.-55+2066T>G) | |
4 | g.125318044G>A | CA3072022 | FAT4 | c.1633G>A (p.Ala545Thr) c.-55+2067G>A (n.-55+2067G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
4 | g.125318044G>C | CA358118320 | FAT4 | c.1633G>C (p.Ala545Pro) c.-55+2067G>C (n.-55+2067G>C) | dbSNP |
4 | g.125318044G= | CA1491601325 | FAT4 | c.1633G= (p.Ala545=) c.-55+2067G= (n.-55+2067G=) | |
4 | g.125318044G>T | CA358118319 | FAT4 | c.1633G>T (p.Ala545Ser) c.-55+2067G>T (n.-55+2067G>T) | |
4 | g.125318045C>A | CA358118321 | FAT4 | c.1634C>A (p.Ala545Asp) c.-55+2068C>A (n.-55+2068C>A) | |
4 | g.125318045C= | CA1491601331 | FAT4 | c.1634C= (p.Ala545=) c.-55+2068C= (n.-55+2068C=) | |
4 | g.125318045C>G | CA358118322 | FAT4 | c.1634C>G (p.Ala545Gly) c.-55+2068C>G (n.-55+2068C>G) | |
4 | g.125318045C>T | CA3072023 | FAT4 | c.1634C>T (p.Ala545Val) c.-55+2068C>T (n.-55+2068C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125318046T>A | CA441366543 | FAT4 | c.1635T>A (p.Ala545=) c.-55+2069T>A (n.-55+2069T>A) | |
4 | g.125318046T>C | CA441366544 | FAT4 | c.1635T>C (p.Ala545=) c.-55+2069T>C (n.-55+2069T>C) | |
4 | g.125318046T>G | CA441366545 | FAT4 | c.1635T>G (p.Ala545=) c.-55+2069T>G (n.-55+2069T>G) | |
4 | g.125318047T>A | CA358118323 | FAT4 | c.1636T>A (p.Ser546Thr) c.-55+2070T>A (n.-55+2070T>A) | |
4 | g.125318047T>C | CA358118324 | FAT4 | c.1636T>C (p.Ser546Pro) c.-55+2070T>C (n.-55+2070T>C) | ClinVar dbSNP gnomAD v4 |
4 | g.125318047T>G | CA358118325 | FAT4 | c.1636T>G (p.Ser546Ala) c.-55+2070T>G (n.-55+2070T>G) | dbSNP gnomAD v2 |
4 | g.125318047T= | CA1491601346 | FAT4 | c.1636T= (p.Ser546=) c.-55+2070T= (n.-55+2070T=) | |
4 | g.125318048C>A | CA358118326 | FAT4 | c.1637C>A (p.Ser546Tyr) c.-55+2071C>A (n.-55+2071C>A) | |
4 | g.125318048C= | CA1491601357 | FAT4 | c.1637C= (p.Ser546=) c.-55+2071C= (n.-55+2071C=) | |
4 | g.125318048C>G | CA358118327 | FAT4 | c.1637C>G (p.Ser546Cys) c.-55+2071C>G (n.-55+2071C>G) | |
4 | g.125318048C>T | CA3072024 | FAT4 | c.1637C>T (p.Ser546Phe) c.-55+2071C>T (n.-55+2071C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125318049C>A | CA441366549 | FAT4 | c.1638C>A (p.Ser546=) c.-55+2072C>A (n.-55+2072C>A) | |
4 | g.125318049C>G | CA441366551 | FAT4 | c.1638C>G (p.Ser546=) c.-55+2072C>G (n.-55+2072C>G) | |
4 | g.125318049C>T | CA441366552 | FAT4 | c.1638C>T (p.Ser546=) c.-55+2072C>T (n.-55+2072C>T) | |
4 | g.125318050C>A | CA358118328 | FAT4 | c.1639C>A (p.Gln547Lys) c.-55+2073C>A (n.-55+2073C>A) | gnomAD v4 |
4 | g.125318050C>G | CA358118329 | FAT4 | c.1639C>G (p.Gln547Glu) c.-55+2073C>G (n.-55+2073C>G) | |
4 | g.125318050C>T | CA358118330 | FAT4 | c.1639C>T (p.Gln547Ter) c.-55+2073C>T (n.-55+2073C>T) | gnomAD v4 |
4 | g.125318051A= | CA1491601364 | FAT4 | c.1640A= (p.Gln547=) c.-55+2074A= (n.-55+2074A=) | |
4 | g.125318051A>C | CA358118333 | FAT4 | c.1640A>C (p.Gln547Pro) c.-55+2074A>C (n.-55+2074A>C) | |
4 | g.125318051A>G | CA358118332 | FAT4 | c.1640A>G (p.Gln547Arg) c.-55+2074A>G (n.-55+2074A>G) | |
4 | g.125318051A>T | CA358118331 | FAT4 | c.1640A>T (p.Gln547Leu) c.-55+2074A>T (n.-55+2074A>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125318052G>A | CA441366553 | FAT4 | c.1641G>A (p.Gln547=) c.-55+2075G>A (n.-55+2075G>A) | |
4 | g.125318052G>C | CA358118335 | FAT4 | c.1641G>C (p.Gln547His) c.-55+2075G>C (n.-55+2075G>C) | |
4 | g.125318052G>T | CA358118334 | FAT4 | c.1641G>T (p.Gln547His) c.-55+2075G>T (n.-55+2075G>T) |