UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.154321024C>A | CA358506106 | DCHS2 | c.4375G>T (p.Gly1459Ter) n.3009G>T c.3009G>T c.3010G>T (p.Gly1004Ter) c.2044G>T (p.Gly682Ter) c.1936G>T (p.Gly646Ter) c.433G>T (p.Gly145Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.154321024C= | CA1504821968 | DCHS2 | c.4375G= (p.Gly1459=) n.3009G= c.3009G= c.3010G= (p.Gly1004=) c.2044G= (p.Gly682=) c.1936G= (p.Gly646=) c.433G= (p.Gly145=) | |
| 4 | g.154321024C>G | CA358506108 | DCHS2 | c.4375G>C (p.Gly1459Arg) n.3009G>C c.3009G>C c.3010G>C (p.Gly1004Arg) c.2044G>C (p.Gly682Arg) c.1936G>C (p.Gly646Arg) c.433G>C (p.Gly145Arg) | |
| 4 | g.154321024C>T | CA174637 | DCHS2 | c.4375G>A (p.Gly1459Arg) n.3009G>A c.3009G>A c.3010G>A (p.Gly1004Arg) c.2044G>A (p.Gly682Arg) c.1936G>A (p.Gly646Arg) c.433G>A (p.Gly145Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.154321024_154321025delinsCG | CA1504821969 | DCHS2 | c.4374_4375delinsCG (p.Thr1458=) n.3008_3009delinsCG c.3008_3009delinsCG c.3009_3010delinsCG (p.Thr1003=) c.2043_2044delinsCG (p.Thr681=) c.1935_1936delinsCG (p.Thr645=) c.432_433delinsCG (p.Thr144=) | |
| 4 | g.154321025G>A | CA441803556 | DCHS2 | c.4374C>T (p.Thr1458=) n.3008C>T c.3008C>T c.3009C>T (p.Thr1003=) c.2043C>T (p.Thr681=) c.1935C>T (p.Thr645=) c.432C>T (p.Thr144=) | dbSNP gnomAD v4 |
| 4 | g.154321025G>C | CA441803557 | DCHS2 | c.4374C>G (p.Thr1458=) n.3008C>G c.3008C>G c.3009C>G (p.Thr1003=) c.2043C>G (p.Thr681=) c.1935C>G (p.Thr645=) c.432C>G (p.Thr144=) | |
| 4 | g.154321025G= | CA1504821970 | DCHS2 | c.4374C= (p.Thr1458=) n.3008C= c.3008C= c.3009C= (p.Thr1003=) c.2043C= (p.Thr681=) c.1935C= (p.Thr645=) c.432C= (p.Thr144=) | |
| 4 | g.154321025G>T | CA441803558 | DCHS2 | c.4374C>A (p.Thr1458=) n.3008C>A c.3008C>A c.3009C>A (p.Thr1003=) c.2043C>A (p.Thr681=) c.1935C>A (p.Thr645=) c.432C>A (p.Thr144=) | gnomAD v4 |
| 4 | g.154321026del | CA789356033 | DCHS2 | c.4374del (p.Gly1459GlufsTer21) n.3008del c.3008del c.3009del (p.Gly1004GlufsTer21) c.2043del (p.Gly682GlufsTer21) c.1935del (p.Gly646GlufsTer21) c.432del (p.Gly145GlufsTer21) | dbSNP gnomAD v4 |
| 4 | g.154321026G>A | CA3112864 | DCHS2 | c.4373C>T (p.Thr1458Ile) n.3007C>T c.3007C>T c.3008C>T (p.Thr1003Ile) c.2042C>T (p.Thr681Ile) c.1934C>T (p.Thr645Ile) c.431C>T (p.Thr144Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.154321026G>C | CA358506111 | DCHS2 | c.4373C>G (p.Thr1458Ser) n.3007C>G c.3007C>G c.3008C>G (p.Thr1003Ser) c.2042C>G (p.Thr681Ser) c.1934C>G (p.Thr645Ser) c.431C>G (p.Thr144Ser) | |
| 4 | g.154321026G= | CA1504821971 | DCHS2 | c.4373C= (p.Thr1458=) n.3007C= c.3007C= c.3008C= (p.Thr1003=) c.2042C= (p.Thr681=) c.1934C= (p.Thr645=) c.431C= (p.Thr144=) | |
| 4 | g.154321026G>T | CA358506113 | DCHS2 | c.4373C>A (p.Thr1458Asn) n.3007C>A c.3007C>A c.3008C>A (p.Thr1003Asn) c.2042C>A (p.Thr681Asn) c.1934C>A (p.Thr645Asn) c.431C>A (p.Thr144Asn) | |
| 4 | g.154321027T>A | CA358506116 | DCHS2 | c.4372A>T (p.Thr1458Ser) n.3006A>T c.3006A>T c.3007A>T (p.Thr1003Ser) c.2041A>T (p.Thr681Ser) c.1933A>T (p.Thr645Ser) c.430A>T (p.Thr144Ser) | |
| 4 | g.154321027T>C | CA358506119 | DCHS2 | c.4372A>G (p.Thr1458Ala) n.3006A>G c.3006A>G c.3007A>G (p.Thr1003Ala) c.2041A>G (p.Thr681Ala) c.1933A>G (p.Thr645Ala) c.430A>G (p.Thr144Ala) | dbSNP |
| 4 | g.154321027T>G | CA358506117 | DCHS2 | c.4372A>C (p.Thr1458Pro) n.3006A>C c.3006A>C c.3007A>C (p.Thr1003Pro) c.2041A>C (p.Thr681Pro) c.1933A>C (p.Thr645Pro) c.430A>C (p.Thr144Pro) | |
| 4 | g.154321027T= | CA1504821972 | DCHS2 | c.4372A= (p.Thr1458=) n.3006A= c.3006A= c.3007A= (p.Thr1003=) c.2041A= (p.Thr681=) c.1933A= (p.Thr645=) c.430A= (p.Thr144=) | |
| 4 | g.154321028T>A | CA441803562 | DCHS2 | c.4371A>T (p.Ser1457=) n.3005A>T c.3005A>T c.3006A>T (p.Ser1002=) c.2040A>T (p.Ser680=) c.1932A>T (p.Ser644=) c.429A>T (p.Ser143=) | |
| 4 | g.154321028T>C | CA441803563 | DCHS2 | c.4371A>G (p.Ser1457=) n.3005A>G c.3005A>G c.3006A>G (p.Ser1002=) c.2040A>G (p.Ser680=) c.1932A>G (p.Ser644=) c.429A>G (p.Ser143=) | |
| 4 | g.154321028T>G | CA441803564 | DCHS2 | c.4371A>C (p.Ser1457=) n.3005A>C c.3005A>C c.3006A>C (p.Ser1002=) c.2040A>C (p.Ser680=) c.1932A>C (p.Ser644=) c.429A>C (p.Ser143=) | |
| 4 | g.154321029G>A | CA358506122 | DCHS2 | c.4370C>T (p.Ser1457Leu) n.3004C>T c.3004C>T c.3005C>T (p.Ser1002Leu) c.2039C>T (p.Ser680Leu) c.1931C>T (p.Ser644Leu) c.428C>T (p.Ser143Leu) | |
| 4 | g.154321029G>C | CA358506126 | DCHS2 | c.4370C>G (p.Ser1457Ter) n.3004C>G c.3004C>G c.3005C>G (p.Ser1002Ter) c.2039C>G (p.Ser680Ter) c.1931C>G (p.Ser644Ter) c.428C>G (p.Ser143Ter) | |
| 4 | g.154321029G>T | CA358506123 | DCHS2 | c.4370C>A (p.Ser1457Ter) n.3004C>A c.3004C>A c.3005C>A (p.Ser1002Ter) c.2039C>A (p.Ser680Ter) c.1931C>A (p.Ser644Ter) c.428C>A (p.Ser143Ter) | gnomAD v4 |
| 4 | g.154321030A>C | CA358506128 | DCHS2 | c.4369T>G (p.Ser1457Ala) n.3003T>G c.3003T>G c.3004T>G (p.Ser1002Ala) c.2038T>G (p.Ser680Ala) c.1930T>G (p.Ser644Ala) c.427T>G (p.Ser143Ala) | |
| 4 | g.154321030A>G | CA358506129 | DCHS2 | c.4369T>C (p.Ser1457Pro) n.3003T>C c.3003T>C c.3004T>C (p.Ser1002Pro) c.2038T>C (p.Ser680Pro) c.1930T>C (p.Ser644Pro) c.427T>C (p.Ser143Pro) | gnomAD v4 |
| 4 | g.154321030A>T | CA358506131 | DCHS2 | c.4369T>A (p.Ser1457Thr) n.3003T>A c.3003T>A c.3004T>A (p.Ser1002Thr) c.2038T>A (p.Ser680Thr) c.1930T>A (p.Ser644Thr) c.427T>A (p.Ser143Thr) | |
| 4 | g.154321031G>A | CA441803565 | DCHS2 | c.4368C>T (p.Ser1456=) n.3002C>T c.3002C>T c.3003C>T (p.Ser1001=) c.2037C>T (p.Ser679=) c.1929C>T (p.Ser643=) c.426C>T (p.Ser142=) | |
| 4 | g.154321031G>C | CA358506133 | DCHS2 | c.4368C>G (p.Ser1456Arg) n.3002C>G c.3002C>G c.3003C>G (p.Ser1001Arg) c.2037C>G (p.Ser679Arg) c.1929C>G (p.Ser643Arg) c.426C>G (p.Ser142Arg) | |
| 4 | g.154321031G>T | CA358506135 | DCHS2 | c.4368C>A (p.Ser1456Arg) n.3002C>A c.3002C>A c.3003C>A (p.Ser1001Arg) c.2037C>A (p.Ser679Arg) c.1929C>A (p.Ser643Arg) c.426C>A (p.Ser142Arg) | |
| 4 | g.154321031_154321035delinsGCTGT | CA1504821973 | DCHS2 | c.4364_4368delinsACAGC (p.Asp1455=) n.2998_3002delinsACAGC c.2998_3002delinsACAGC c.2999_3003delinsACAGC (p.Asp1000=) c.2033_2037delinsACAGC (p.Asp678=) c.1925_1929delinsACAGC (p.Asp642=) c.422_426delinsACAGC (p.Asp141=) | |
| 4 | g.154321032C>A | CA358506137 | DCHS2 | c.4367G>T (p.Ser1456Ile) n.3001G>T c.3001G>T c.3002G>T (p.Ser1001Ile) c.2036G>T (p.Ser679Ile) c.1928G>T (p.Ser643Ile) c.425G>T (p.Ser142Ile) | |
| 4 | g.154321032C= | CA1504821974 | DCHS2 | c.4367G= (p.Ser1456=) n.3001G= c.3001G= c.3002G= (p.Ser1001=) c.2036G= (p.Ser679=) c.1928G= (p.Ser643=) c.425G= (p.Ser142=) | |
| 4 | g.154321032C>G | CA358506138 | DCHS2 | c.4367G>C (p.Ser1456Thr) n.3001G>C c.3001G>C c.3002G>C (p.Ser1001Thr) c.2036G>C (p.Ser679Thr) c.1928G>C (p.Ser643Thr) c.425G>C (p.Ser142Thr) | dbSNP gnomAD v4 |
| 4 | g.154321032C>T | CA358506140 | DCHS2 | c.4367G>A (p.Ser1456Asn) n.3001G>A c.3001G>A c.3002G>A (p.Ser1001Asn) c.2036G>A (p.Ser679Asn) c.1928G>A (p.Ser643Asn) c.425G>A (p.Ser142Asn) | |
| 4 | g.154321034_154321037del | CA3112865 | DCHS2 | c.4364_4367del (p.Asp1455AlafsTer24) n.2998_3001del c.2998_3001del c.2999_3002del (p.Asp1000AlafsTer24) c.2033_2036del (p.Asp678AlafsTer24) c.1925_1928del (p.Asp642AlafsTer24) c.422_425del (p.Asp141AlafsTer24) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154321033T>A | CA358506143 | DCHS2 | c.4366A>T (p.Ser1456Cys) n.3000A>T c.3000A>T c.3001A>T (p.Ser1001Cys) c.2035A>T (p.Ser679Cys) c.1927A>T (p.Ser643Cys) c.424A>T (p.Ser142Cys) | |
| 4 | g.154321033T>C | CA358506144 | DCHS2 | c.4366A>G (p.Ser1456Gly) n.3000A>G c.3000A>G c.3001A>G (p.Ser1001Gly) c.2035A>G (p.Ser679Gly) c.1927A>G (p.Ser643Gly) c.424A>G (p.Ser142Gly) | dbSNP gnomAD v4 |
| 4 | g.154321033T>G | CA358506146 | DCHS2 | c.4366A>C (p.Ser1456Arg) n.3000A>C c.3000A>C c.3001A>C (p.Ser1001Arg) c.2035A>C (p.Ser679Arg) c.1927A>C (p.Ser643Arg) c.424A>C (p.Ser142Arg) | |
| 4 | g.154321033T= | CA1504821975 | DCHS2 | c.4366A= (p.Ser1456=) n.3000A= c.3000A= c.3001A= (p.Ser1001=) c.2035A= (p.Ser679=) c.1927A= (p.Ser643=) c.424A= (p.Ser142=) | |
| 4 | g.154321037_154321050del | CA441803569 | DCHS2 | c.4353_4366del (p.His1451GlnfsTer10) n.2987_3000del c.2987_3000del c.2988_3001del (p.His996GlnfsTer10) c.2022_2035del (p.His674GlnfsTer10) c.1914_1927del (p.His638GlnfsTer10) c.411_424del (p.His137GlnfsTer10) | |
| 4 | g.154321034G>A | CA441803570 | DCHS2 | c.4365C>T (p.Asp1455=) n.2999C>T c.2999C>T c.3000C>T (p.Asp1000=) c.2034C>T (p.Asp678=) c.1926C>T (p.Asp642=) c.423C>T (p.Asp141=) | gnomAD v4 |
| 4 | g.154321034G>C | CA358506150 | DCHS2 | c.4365C>G (p.Asp1455Glu) n.2999C>G c.2999C>G c.3000C>G (p.Asp1000Glu) c.2034C>G (p.Asp678Glu) c.1926C>G (p.Asp642Glu) c.423C>G (p.Asp141Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.154321034G= | CA1504821976 | DCHS2 | c.4365C= (p.Asp1455=) n.2999C= c.2999C= c.3000C= (p.Asp1000=) c.2034C= (p.Asp678=) c.1926C= (p.Asp642=) c.423C= (p.Asp141=) | |
| 4 | g.154321034G>T | CA3112866 | DCHS2 | c.4365C>A (p.Asp1455Glu) n.2999C>A c.2999C>A c.3000C>A (p.Asp1000Glu) c.2034C>A (p.Asp678Glu) c.1926C>A (p.Asp642Glu) c.423C>A (p.Asp141Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.154321035T>A | CA358506152 | DCHS2 | c.4364A>T (p.Asp1455Val) n.2998A>T c.2998A>T c.2999A>T (p.Asp1000Val) c.2033A>T (p.Asp678Val) c.1925A>T (p.Asp642Val) c.422A>T (p.Asp141Val) | |
| 4 | g.154321035T>C | CA358506154 | DCHS2 | c.4364A>G (p.Asp1455Gly) n.2998A>G c.2998A>G c.2999A>G (p.Asp1000Gly) c.2033A>G (p.Asp678Gly) c.1925A>G (p.Asp642Gly) c.422A>G (p.Asp141Gly) | gnomAD v4 |
| 4 | g.154321035T>G | CA358506156 | DCHS2 | c.4364A>C (p.Asp1455Ala) n.2998A>C c.2998A>C c.2999A>C (p.Asp1000Ala) c.2033A>C (p.Asp678Ala) c.1925A>C (p.Asp642Ala) c.422A>C (p.Asp141Ala) | |
| 4 | g.154321037_154321042del | CA2672428538 | DCHS2 | c.4359_4364del (p.Glu1453_Ile1454del) n.2993_2998del c.2993_2998del c.2994_2999del (p.Glu998_Ile999del) c.2028_2033del (p.Glu676_Ile677del) c.1920_1925del (p.Glu640_Ile641del) c.417_422del (p.Glu139_Ile140del) | gnomAD v4 |
| 4 | g.154321036C>A | CA358506158 | DCHS2 | c.4363G>T (p.Asp1455Tyr) n.2997G>T c.2997G>T c.2998G>T (p.Asp1000Tyr) c.2032G>T (p.Asp678Tyr) c.1924G>T (p.Asp642Tyr) c.421G>T (p.Asp141Tyr) | |
| 4 | g.154321036C>G | CA358506161 | DCHS2 | c.4363G>C (p.Asp1455His) n.2997G>C c.2997G>C c.2998G>C (p.Asp1000His) c.2032G>C (p.Asp678His) c.1924G>C (p.Asp642His) c.421G>C (p.Asp141His) | |
| 4 | g.154321036C>T | CA358506163 | DCHS2 | c.4363G>A (p.Asp1455Asn) n.2997G>A c.2997G>A c.2998G>A (p.Asp1000Asn) c.2032G>A (p.Asp678Asn) c.1924G>A (p.Asp642Asn) c.421G>A (p.Asp141Asn) | |
| 4 | g.154321037T>A | CA441803572 | DCHS2 | c.4362A>T (p.Ile1454=) n.2996A>T c.2996A>T c.2997A>T (p.Ile999=) c.2031A>T (p.Ile677=) c.1923A>T (p.Ile641=) c.420A>T (p.Ile140=) | |
| 4 | g.154321037T>C | CA358506165 | DCHS2 | c.4362A>G (p.Ile1454Met) n.2996A>G c.2996A>G c.2997A>G (p.Ile999Met) c.2031A>G (p.Ile677Met) c.1923A>G (p.Ile641Met) c.420A>G (p.Ile140Met) | |
| 4 | g.154321037T>G | CA441803573 | DCHS2 | c.4362A>C (p.Ile1454=) n.2996A>C c.2996A>C c.2997A>C (p.Ile999=) c.2031A>C (p.Ile677=) c.1923A>C (p.Ile641=) c.420A>C (p.Ile140=) | |
| 4 | g.154321038A= | CA1504821977 | DCHS2 | c.4361T= (p.Ile1454=) n.2995T= c.2995T= c.2996T= (p.Ile999=) c.2030T= (p.Ile677=) c.1922T= (p.Ile641=) c.419T= (p.Ile140=) | |
| 4 | g.154321038A>C | CA3112867 | DCHS2 | c.4361T>G (p.Ile1454Arg) n.2995T>G c.2995T>G c.2996T>G (p.Ile999Arg) c.2030T>G (p.Ile677Arg) c.1922T>G (p.Ile641Arg) c.419T>G (p.Ile140Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.154321038A>G | CA358506168 | DCHS2 | c.4361T>C (p.Ile1454Thr) n.2995T>C c.2995T>C c.2996T>C (p.Ile999Thr) c.2030T>C (p.Ile677Thr) c.1922T>C (p.Ile641Thr) c.419T>C (p.Ile140Thr) | gnomAD v4 |
| 4 | g.154321038A>T | CA358506170 | DCHS2 | c.4361T>A (p.Ile1454Lys) n.2995T>A c.2995T>A c.2996T>A (p.Ile999Lys) c.2030T>A (p.Ile677Lys) c.1922T>A (p.Ile641Lys) c.419T>A (p.Ile140Lys) | |
| 4 | g.154321039T>A | CA358506172 | DCHS2 | c.4360A>T (p.Ile1454Leu) n.2994A>T c.2994A>T c.2995A>T (p.Ile999Leu) c.2029A>T (p.Ile677Leu) c.1921A>T (p.Ile641Leu) c.418A>T (p.Ile140Leu) | |
| 4 | g.154321039T>C | CA3112868 | DCHS2 | c.4360A>G (p.Ile1454Val) n.2994A>G c.2994A>G c.2995A>G (p.Ile999Val) c.2029A>G (p.Ile677Val) c.1921A>G (p.Ile641Val) c.418A>G (p.Ile140Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154321039T>G | CA358506174 | DCHS2 | c.4360A>C (p.Ile1454Leu) n.2994A>C c.2994A>C c.2995A>C (p.Ile999Leu) c.2029A>C (p.Ile677Leu) c.1921A>C (p.Ile641Leu) c.418A>C (p.Ile140Leu) | |
| 4 | g.154321039T= | CA1504821978 | DCHS2 | c.4360A= (p.Ile1454=) n.2994A= c.2994A= c.2995A= (p.Ile999=) c.2029A= (p.Ile677=) c.1921A= (p.Ile641=) c.418A= (p.Ile140=) | |
| 4 | g.154321040T>A | CA358506177 | DCHS2 | c.4359A>T (p.Glu1453Asp) n.2993A>T c.2993A>T c.2994A>T (p.Glu998Asp) c.2028A>T (p.Glu676Asp) c.1920A>T (p.Glu640Asp) c.417A>T (p.Glu139Asp) | |
| 4 | g.154321040T>C | CA441803575 | DCHS2 | c.4359A>G (p.Glu1453=) n.2993A>G c.2993A>G c.2994A>G (p.Glu998=) c.2028A>G (p.Glu676=) c.1920A>G (p.Glu640=) c.417A>G (p.Glu139=) | |
| 4 | g.154321040T>G | CA358506179 | DCHS2 | c.4359A>C (p.Glu1453Asp) n.2993A>C c.2993A>C c.2994A>C (p.Glu998Asp) c.2028A>C (p.Glu676Asp) c.1920A>C (p.Glu640Asp) c.417A>C (p.Glu139Asp) | |
| 4 | g.154321041T>A | CA358506181 | DCHS2 | c.4358A>T (p.Glu1453Val) n.2992A>T c.2992A>T c.2993A>T (p.Glu998Val) c.2027A>T (p.Glu676Val) c.1919A>T (p.Glu640Val) c.416A>T (p.Glu139Val) | |
| 4 | g.154321041T>C | CA358506183 | DCHS2 | c.4358A>G (p.Glu1453Gly) n.2992A>G c.2992A>G c.2993A>G (p.Glu998Gly) c.2027A>G (p.Glu676Gly) c.1919A>G (p.Glu640Gly) c.416A>G (p.Glu139Gly) | |
| 4 | g.154321041T>G | CA358506185 | DCHS2 | c.4358A>C (p.Glu1453Ala) n.2992A>C c.2992A>C c.2993A>C (p.Glu998Ala) c.2027A>C (p.Glu676Ala) c.1919A>C (p.Glu640Ala) c.416A>C (p.Glu139Ala) | |
| 4 | g.154321042C>A | CA358506187 | DCHS2 | c.4357G>T (p.Glu1453Ter) n.2991G>T c.2991G>T c.2992G>T (p.Glu998Ter) c.2026G>T (p.Glu676Ter) c.1918G>T (p.Glu640Ter) c.415G>T (p.Glu139Ter) | |
| 4 | g.154321042C= | CA1504821979 | DCHS2 | c.4357G= (p.Glu1453=) n.2991G= c.2991G= c.2992G= (p.Glu998=) c.2026G= (p.Glu676=) c.1918G= (p.Glu640=) c.415G= (p.Glu139=) | |
| 4 | g.154321042C>G | CA358506188 | DCHS2 | c.4357G>C (p.Glu1453Gln) n.2991G>C c.2991G>C c.2992G>C (p.Glu998Gln) c.2026G>C (p.Glu676Gln) c.1918G>C (p.Glu640Gln) c.415G>C (p.Glu139Gln) | |
| 4 | g.154321042C>T | CA358506190 | DCHS2 | c.4357G>A (p.Glu1453Lys) n.2991G>A c.2991G>A c.2992G>A (p.Glu998Lys) c.2026G>A (p.Glu676Lys) c.1918G>A (p.Glu640Lys) c.415G>A (p.Glu139Lys) | |
| 4 | g.154321043A>C | CA358506192 | DCHS2 | c.4356T>G (p.Phe1452Leu) n.2990T>G c.2990T>G c.2991T>G (p.Phe997Leu) c.2025T>G (p.Phe675Leu) c.1917T>G (p.Phe639Leu) c.414T>G (p.Phe138Leu) | |
| 4 | g.154321043A>G | CA441803576 | DCHS2 | c.4356T>C (p.Phe1452=) n.2990T>C c.2990T>C c.2991T>C (p.Phe997=) c.2025T>C (p.Phe675=) c.1917T>C (p.Phe639=) c.414T>C (p.Phe138=) | |
| 4 | g.154321043A>T | CA358506193 | DCHS2 | c.4356T>A (p.Phe1452Leu) n.2990T>A c.2990T>A c.2991T>A (p.Phe997Leu) c.2025T>A (p.Phe675Leu) c.1917T>A (p.Phe639Leu) c.414T>A (p.Phe138Leu) | |
| 4 | g.154321045_154321084dup | CA917338070 | DCHS2 | c.4317_4356dup (p.Glu1453ThrfsTer3) n.2951_2990dup c.2951_2990dup c.2952_2991dup (p.Glu998ThrfsTer3) c.1986_2025dup (p.Glu676ThrfsTer3) c.1878_1917dup (p.Glu640ThrfsTer3) c.375_414dup (p.Glu139ThrfsTer3) | dbSNP gnomAD v4 |
| 4 | g.154321044A>C | CA358506196 | DCHS2 | c.4355T>G (p.Phe1452Cys) n.2989T>G c.2989T>G c.2990T>G (p.Phe997Cys) c.2024T>G (p.Phe675Cys) c.1916T>G (p.Phe639Cys) c.413T>G (p.Phe138Cys) | |
| 4 | g.154321044A>G | CA358506197 | DCHS2 | c.4355T>C (p.Phe1452Ser) n.2989T>C c.2989T>C c.2990T>C (p.Phe997Ser) c.2024T>C (p.Phe675Ser) c.1916T>C (p.Phe639Ser) c.413T>C (p.Phe138Ser) | |
| 4 | g.154321044A>T | CA358506199 | DCHS2 | c.4355T>A (p.Phe1452Tyr) n.2989T>A c.2989T>A c.2990T>A (p.Phe997Tyr) c.2024T>A (p.Phe675Tyr) c.1916T>A (p.Phe639Tyr) c.413T>A (p.Phe138Tyr) | |
| 4 | g.154321044_154321046dup | CA2672428539 | DCHS2 | c.4353_4355dup (p.Phe1452_Glu1453insPhe) n.2987_2989dup c.2987_2989dup c.2988_2990dup (p.Phe997_Glu998insPhe) c.2022_2024dup (p.Phe675_Glu676insPhe) c.1914_1916dup (p.Phe639_Glu640insPhe) c.411_413dup (p.Phe138_Glu139insPhe) | gnomAD v4 |
| 4 | g.154321045A>C | CA358506202 | DCHS2 | c.4354T>G (p.Phe1452Val) n.2988T>G c.2988T>G c.2989T>G (p.Phe997Val) c.2023T>G (p.Phe675Val) c.1915T>G (p.Phe639Val) c.412T>G (p.Phe138Val) | |
| 4 | g.154321045A>G | CA358506203 | DCHS2 | c.4354T>C (p.Phe1452Leu) n.2988T>C c.2988T>C c.2989T>C (p.Phe997Leu) c.2023T>C (p.Phe675Leu) c.1915T>C (p.Phe639Leu) c.412T>C (p.Phe138Leu) | |
| 4 | g.154321045A>T | CA358506205 | DCHS2 | c.4354T>A (p.Phe1452Ile) n.2988T>A c.2988T>A c.2989T>A (p.Phe997Ile) c.2023T>A (p.Phe675Ile) c.1915T>A (p.Phe639Ile) c.412T>A (p.Phe138Ile) | |
| 4 | g.154321046G>A | CA441803579 | DCHS2 | c.4353C>T (p.His1451=) n.2987C>T c.2987C>T c.2988C>T (p.His996=) c.2022C>T (p.His674=) c.1914C>T (p.His638=) c.411C>T (p.His137=) | |
| 4 | g.154321046G>C | CA358506206 | DCHS2 | c.4353C>G (p.His1451Gln) n.2987C>G c.2987C>G c.2988C>G (p.His996Gln) c.2022C>G (p.His674Gln) c.1914C>G (p.His638Gln) c.411C>G (p.His137Gln) | |
| 4 | g.154321046G>T | CA358506208 | DCHS2 | c.4353C>A (p.His1451Gln) n.2987C>A c.2987C>A c.2988C>A (p.His996Gln) c.2022C>A (p.His674Gln) c.1914C>A (p.His638Gln) c.411C>A (p.His137Gln) | |
| 4 | g.154321047T>A | CA358506212 | DCHS2 | c.4352A>T (p.His1451Leu) n.2986A>T c.2986A>T c.2987A>T (p.His996Leu) c.2021A>T (p.His674Leu) c.1913A>T (p.His638Leu) c.410A>T (p.His137Leu) | |
| 4 | g.154321047T>C | CA358506213 | DCHS2 | c.4352A>G (p.His1451Arg) n.2986A>G c.2986A>G c.2987A>G (p.His996Arg) c.2021A>G (p.His674Arg) c.1913A>G (p.His638Arg) c.410A>G (p.His137Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154321047T>G | CA358506215 | DCHS2 | c.4352A>C (p.His1451Pro) n.2986A>C c.2986A>C c.2987A>C (p.His996Pro) c.2021A>C (p.His674Pro) c.1913A>C (p.His638Pro) c.410A>C (p.His137Pro) | |
| 4 | g.154321047T= | CA1504821980 | DCHS2 | c.4352A= (p.His1451=) n.2986A= c.2986A= c.2987A= (p.His996=) c.2021A= (p.His674=) c.1913A= (p.His638=) c.410A= (p.His137=) | |
| 4 | g.154321048G>A | CA358506217 | DCHS2 | c.4351C>T (p.His1451Tyr) n.2985C>T c.2985C>T c.2986C>T (p.His996Tyr) c.2020C>T (p.His674Tyr) c.1912C>T (p.His638Tyr) c.409C>T (p.His137Tyr) | gnomAD v4 |
| 4 | g.154321048G>C | CA358506219 | DCHS2 | c.4351C>G (p.His1451Asp) n.2985C>G c.2985C>G c.2986C>G (p.His996Asp) c.2020C>G (p.His674Asp) c.1912C>G (p.His638Asp) c.409C>G (p.His137Asp) | |
| 4 | g.154321048G>T | CA358506220 | DCHS2 | c.4351C>A (p.His1451Asn) n.2985C>A c.2985C>A c.2986C>A (p.His996Asn) c.2020C>A (p.His674Asn) c.1912C>A (p.His638Asn) c.409C>A (p.His137Asn) | |
| 4 | g.154321049T>A | CA441803581 | DCHS2 | c.4350A>T (p.Gly1450=) n.2984A>T c.2984A>T c.2985A>T (p.Gly995=) c.2019A>T (p.Gly673=) c.1911A>T (p.Gly637=) c.408A>T (p.Gly136=) | |
| 4 | g.154321049T>C | CA441803583 | DCHS2 | c.4350A>G (p.Gly1450=) n.2984A>G c.2984A>G c.2985A>G (p.Gly995=) c.2019A>G (p.Gly673=) c.1911A>G (p.Gly637=) c.408A>G (p.Gly136=) | |
| 4 | g.154321049T>G | CA441803582 | DCHS2 | c.4350A>C (p.Gly1450=) n.2984A>C c.2984A>C c.2985A>C (p.Gly995=) c.2019A>C (p.Gly673=) c.1911A>C (p.Gly637=) c.408A>C (p.Gly136=) | |
| 4 | g.154321050C>A | CA358506223 | DCHS2 | c.4349G>T (p.Gly1450Val) n.2983G>T c.2983G>T c.2984G>T (p.Gly995Val) c.2018G>T (p.Gly673Val) c.1910G>T (p.Gly637Val) c.407G>T (p.Gly136Val) | |
| 4 | g.154321050C>G | CA358506224 | DCHS2 | c.4349G>C (p.Gly1450Ala) n.2983G>C c.2983G>C c.2984G>C (p.Gly995Ala) c.2018G>C (p.Gly673Ala) c.1910G>C (p.Gly637Ala) c.407G>C (p.Gly136Ala) | |
| 4 | g.154321050C>T | CA358506225 | DCHS2 | c.4349G>A (p.Gly1450Glu) n.2983G>A c.2983G>A c.2984G>A (p.Gly995Glu) c.2018G>A (p.Gly673Glu) c.1910G>A (p.Gly637Glu) c.407G>A (p.Gly136Glu) | |
| 4 | g.154321051C>A | CA3112869 | DCHS2 | c.4348G>T (p.Gly1450Ter) n.2982G>T c.2982G>T c.2983G>T (p.Gly995Ter) c.2017G>T (p.Gly673Ter) c.1909G>T (p.Gly637Ter) c.406G>T (p.Gly136Ter) | dbSNP ExAC gnomAD v2 |
| 4 | g.154321051C= | CA1504821981 | DCHS2 | c.4348G= (p.Gly1450=) n.2982G= c.2982G= c.2983G= (p.Gly995=) c.2017G= (p.Gly673=) c.1909G= (p.Gly637=) c.406G= (p.Gly136=) | |
| 4 | g.154321051C>G | CA358506229 | DCHS2 | c.4348G>C (p.Gly1450Arg) n.2982G>C c.2982G>C c.2983G>C (p.Gly995Arg) c.2017G>C (p.Gly673Arg) c.1909G>C (p.Gly637Arg) c.406G>C (p.Gly136Arg) | |
| 4 | g.154321051C>T | CA3112870 | DCHS2 | c.4348G>A (p.Gly1450Arg) n.2982G>A c.2982G>A c.2983G>A (p.Gly995Arg) c.2017G>A (p.Gly673Arg) c.1909G>A (p.Gly637Arg) c.406G>A (p.Gly136Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154321052A>C | CA358506233 | DCHS2 | c.4347T>G (p.Asp1449Glu) n.2981T>G c.2981T>G c.2982T>G (p.Asp994Glu) c.2016T>G (p.Asp672Glu) c.1908T>G (p.Asp636Glu) c.405T>G (p.Asp135Glu) | |
| 4 | g.154321052A>G | CA441803584 | DCHS2 | c.4347T>C (p.Asp1449=) n.2981T>C c.2981T>C c.2982T>C (p.Asp994=) c.2016T>C (p.Asp672=) c.1908T>C (p.Asp636=) c.405T>C (p.Asp135=) | gnomAD v4 |
| 4 | g.154321052A>T | CA358506234 | DCHS2 | c.4347T>A (p.Asp1449Glu) n.2981T>A c.2981T>A c.2982T>A (p.Asp994Glu) c.2016T>A (p.Asp672Glu) c.1908T>A (p.Asp636Glu) c.405T>A (p.Asp135Glu) | |
| 4 | g.154321053T>A | CA358506237 | DCHS2 | c.4346A>T (p.Asp1449Val) n.2980A>T c.2980A>T c.2981A>T (p.Asp994Val) c.2015A>T (p.Asp672Val) c.1907A>T (p.Asp636Val) c.404A>T (p.Asp135Val) | dbSNP |
| 4 | g.154321053T>C | CA3112871 | DCHS2 | c.4346A>G (p.Asp1449Gly) n.2980A>G c.2980A>G c.2981A>G (p.Asp994Gly) c.2015A>G (p.Asp672Gly) c.1907A>G (p.Asp636Gly) c.404A>G (p.Asp135Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.154321053T>G | CA358506239 | DCHS2 | c.4346A>C (p.Asp1449Ala) n.2980A>C c.2980A>C c.2981A>C (p.Asp994Ala) c.2015A>C (p.Asp672Ala) c.1907A>C (p.Asp636Ala) c.404A>C (p.Asp135Ala) | |
| 4 | g.154321053T= | CA1504821982 | DCHS2 | c.4346A= (p.Asp1449=) n.2980A= c.2980A= c.2981A= (p.Asp994=) c.2015A= (p.Asp672=) c.1907A= (p.Asp636=) c.404A= (p.Asp135=) | |
| 4 | g.154321054C>A | CA358506241 | DCHS2 | c.4345G>T (p.Asp1449Tyr) n.2979G>T c.2979G>T c.2980G>T (p.Asp994Tyr) c.2014G>T (p.Asp672Tyr) c.1906G>T (p.Asp636Tyr) c.403G>T (p.Asp135Tyr) | dbSNP gnomAD v4 |
| 4 | g.154321054C= | CA1504821983 | DCHS2 | c.4345G= (p.Asp1449=) n.2979G= c.2979G= c.2980G= (p.Asp994=) c.2014G= (p.Asp672=) c.1906G= (p.Asp636=) c.403G= (p.Asp135=) | |
| 4 | g.154321054C>G | CA358506243 | DCHS2 | c.4345G>C (p.Asp1449His) n.2979G>C c.2979G>C c.2980G>C (p.Asp994His) c.2014G>C (p.Asp672His) c.1906G>C (p.Asp636His) c.403G>C (p.Asp135His) | |
| 4 | g.154321054C>T | CA358506245 | DCHS2 | c.4345G>A (p.Asp1449Asn) n.2979G>A c.2979G>A c.2980G>A (p.Asp994Asn) c.2014G>A (p.Asp672Asn) c.1906G>A (p.Asp636Asn) c.403G>A (p.Asp135Asn) | |
| 4 | g.154321055C>A | CA358506247 | DCHS2 | c.4344G>T (p.Lys1448Asn) n.2978G>T c.2978G>T c.2979G>T (p.Lys993Asn) c.2013G>T (p.Lys671Asn) c.1905G>T (p.Lys635Asn) c.402G>T (p.Lys134Asn) | |
| 4 | g.154321055C= | CA1504821984 | DCHS2 | c.4344G= (p.Lys1448=) n.2978G= c.2978G= c.2979G= (p.Lys993=) c.2013G= (p.Lys671=) c.1905G= (p.Lys635=) c.402G= (p.Lys134=) | |
| 4 | g.154321055C>G | CA358506249 | DCHS2 | c.4344G>C (p.Lys1448Asn) n.2978G>C c.2978G>C c.2979G>C (p.Lys993Asn) c.2013G>C (p.Lys671Asn) c.1905G>C (p.Lys635Asn) c.402G>C (p.Lys134Asn) | |
| 4 | g.154321055C>T | CA441803588 | DCHS2 | c.4344G>A (p.Lys1448=) n.2978G>A c.2978G>A c.2979G>A (p.Lys993=) c.2013G>A (p.Lys671=) c.1905G>A (p.Lys635=) c.402G>A (p.Lys134=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154321056T>A | CA358506251 | DCHS2 | c.4343A>T (p.Lys1448Met) n.2977A>T c.2977A>T c.2978A>T (p.Lys993Met) c.2012A>T (p.Lys671Met) c.1904A>T (p.Lys635Met) c.401A>T (p.Lys134Met) | |
| 4 | g.154321056T>C | CA358506252 | DCHS2 | c.4343A>G (p.Lys1448Arg) n.2977A>G c.2977A>G c.2978A>G (p.Lys993Arg) c.2012A>G (p.Lys671Arg) c.1904A>G (p.Lys635Arg) c.401A>G (p.Lys134Arg) | gnomAD v4 |
| 4 | g.154321056T>G | CA358506254 | DCHS2 | c.4343A>C (p.Lys1448Thr) n.2977A>C c.2977A>C c.2978A>C (p.Lys993Thr) c.2012A>C (p.Lys671Thr) c.1904A>C (p.Lys635Thr) c.401A>C (p.Lys134Thr) | |
| 4 | g.154321057T>A | CA358506257 | DCHS2 | c.4342A>T (p.Lys1448Ter) n.2976A>T c.2976A>T c.2977A>T (p.Lys993Ter) c.2011A>T (p.Lys671Ter) c.1903A>T (p.Lys635Ter) c.400A>T (p.Lys134Ter) | |
| 4 | g.154321057T>C | CA358506258 | DCHS2 | c.4342A>G (p.Lys1448Glu) n.2976A>G c.2976A>G c.2977A>G (p.Lys993Glu) c.2011A>G (p.Lys671Glu) c.1903A>G (p.Lys635Glu) c.400A>G (p.Lys134Glu) | |
| 4 | g.154321057T>G | CA358506260 | DCHS2 | c.4342A>C (p.Lys1448Gln) n.2976A>C c.2976A>C c.2977A>C (p.Lys993Gln) c.2011A>C (p.Lys671Gln) c.1903A>C (p.Lys635Gln) c.400A>C (p.Lys134Gln) | gnomAD v4 |
| 4 | g.154321058A>C | CA358506262 | DCHS2 | c.4341T>G (p.Asp1447Glu) n.2975T>G c.2975T>G c.2976T>G (p.Asp992Glu) c.2010T>G (p.Asp670Glu) c.1902T>G (p.Asp634Glu) c.399T>G (p.Asp133Glu) | |
| 4 | g.154321058A>G | CA441803590 | DCHS2 | c.4341T>C (p.Asp1447=) n.2975T>C c.2975T>C c.2976T>C (p.Asp992=) c.2010T>C (p.Asp670=) c.1902T>C (p.Asp634=) c.399T>C (p.Asp133=) | COSMIC |
| 4 | g.154321058A>T | CA358506263 | DCHS2 | c.4341T>A (p.Asp1447Glu) n.2975T>A c.2975T>A c.2976T>A (p.Asp992Glu) c.2010T>A (p.Asp670Glu) c.1902T>A (p.Asp634Glu) c.399T>A (p.Asp133Glu) | |
| 4 | g.154321061_154321063del | CA2672428540 | DCHS2 | c.4339_4341del (p.Asp1447del) n.2973_2975del c.2973_2975del c.2974_2976del (p.Asp992del) c.2008_2010del (p.Asp670del) c.1900_1902del (p.Asp634del) c.397_399del (p.Asp133del) | gnomAD v4 |
| 4 | g.154321059T>A | CA108712326 | DCHS2 | c.4340A>T (p.Asp1447Val) n.2974A>T c.2974A>T c.2975A>T (p.Asp992Val) c.2009A>T (p.Asp670Val) c.1901A>T (p.Asp634Val) c.398A>T (p.Asp133Val) | dbSNP |
| 4 | g.154321059T>C | CA3112872 | DCHS2 | c.4340A>G (p.Asp1447Gly) n.2974A>G c.2974A>G c.2975A>G (p.Asp992Gly) c.2009A>G (p.Asp670Gly) c.1901A>G (p.Asp634Gly) c.398A>G (p.Asp133Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.154321059T>G | CA358506267 | DCHS2 | c.4340A>C (p.Asp1447Ala) n.2974A>C c.2974A>C c.2975A>C (p.Asp992Ala) c.2009A>C (p.Asp670Ala) c.1901A>C (p.Asp634Ala) c.398A>C (p.Asp133Ala) | |
| 4 | g.154321059T= | CA1504821985 | DCHS2 | c.4340A= (p.Asp1447=) n.2974A= c.2974A= c.2975A= (p.Asp992=) c.2009A= (p.Asp670=) c.1901A= (p.Asp634=) c.398A= (p.Asp133=) | |
| 4 | g.154321060C>A | CA358506270 | DCHS2 | c.4339G>T (p.Asp1447Tyr) n.2973G>T c.2973G>T c.2974G>T (p.Asp992Tyr) c.2008G>T (p.Asp670Tyr) c.1900G>T (p.Asp634Tyr) c.397G>T (p.Asp133Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154321060C= | CA1504821986 | DCHS2 | c.4339G= (p.Asp1447=) n.2973G= c.2973G= c.2974G= (p.Asp992=) c.2008G= (p.Asp670=) c.1900G= (p.Asp634=) c.397G= (p.Asp133=) | |
| 4 | g.154321060C>G | CA358506272 | DCHS2 | c.4339G>C (p.Asp1447His) n.2973G>C c.2973G>C c.2974G>C (p.Asp992His) c.2008G>C (p.Asp670His) c.1900G>C (p.Asp634His) c.397G>C (p.Asp133His) | |
| 4 | g.154321060C>T | CA358506274 | DCHS2 | c.4339G>A (p.Asp1447Asn) n.2973G>A c.2973G>A c.2974G>A (p.Asp992Asn) c.2008G>A (p.Asp670Asn) c.1900G>A (p.Asp634Asn) c.397G>A (p.Asp133Asn) | COSMIC |
| 4 | g.154321061A>C | CA358506275 | DCHS2 | c.4338T>G (p.Asp1446Glu) n.2972T>G c.2972T>G c.2973T>G (p.Asp991Glu) c.2007T>G (p.Asp669Glu) c.1899T>G (p.Asp633Glu) c.396T>G (p.Asp132Glu) | |
| 4 | g.154321061A>G | CA441803593 | DCHS2 | c.4338T>C (p.Asp1446=) n.2972T>C c.2972T>C c.2973T>C (p.Asp991=) c.2007T>C (p.Asp669=) c.1899T>C (p.Asp633=) c.396T>C (p.Asp132=) | |
| 4 | g.154321061A>T | CA358506276 | DCHS2 | c.4338T>A (p.Asp1446Glu) n.2972T>A c.2972T>A c.2973T>A (p.Asp991Glu) c.2007T>A (p.Asp669Glu) c.1899T>A (p.Asp633Glu) c.396T>A (p.Asp132Glu) | |
| 4 | g.154321062T>A | CA358506278 | DCHS2 | c.4337A>T (p.Asp1446Val) n.2971A>T c.2971A>T c.2972A>T (p.Asp991Val) c.2006A>T (p.Asp669Val) c.1898A>T (p.Asp633Val) c.395A>T (p.Asp132Val) | |
| 4 | g.154321062T>C | CA358506279 | DCHS2 | c.4337A>G (p.Asp1446Gly) n.2971A>G c.2971A>G c.2972A>G (p.Asp991Gly) c.2006A>G (p.Asp669Gly) c.1898A>G (p.Asp633Gly) c.395A>G (p.Asp132Gly) | dbSNP gnomAD v4 |
| 4 | g.154321062T>G | CA358506280 | DCHS2 | c.4337A>C (p.Asp1446Ala) n.2971A>C c.2971A>C c.2972A>C (p.Asp991Ala) c.2006A>C (p.Asp669Ala) c.1898A>C (p.Asp633Ala) c.395A>C (p.Asp132Ala) | |
| 4 | g.154321062T= | CA1504821987 | DCHS2 | c.4337A= (p.Asp1446=) n.2971A= c.2971A= c.2972A= (p.Asp991=) c.2006A= (p.Asp669=) c.1898A= (p.Asp633=) c.395A= (p.Asp132=) | |
| 4 | g.154321063C>A | CA358506283 | DCHS2 | c.4336G>T (p.Asp1446Tyr) n.2970G>T c.2970G>T c.2971G>T (p.Asp991Tyr) c.2005G>T (p.Asp669Tyr) c.1897G>T (p.Asp633Tyr) c.394G>T (p.Asp132Tyr) | |
| 4 | g.154321063C>G | CA358506285 | DCHS2 | c.4336G>C (p.Asp1446His) n.2970G>C c.2970G>C c.2971G>C (p.Asp991His) c.2005G>C (p.Asp669His) c.1897G>C (p.Asp633His) c.394G>C (p.Asp132His) | |
| 4 | g.154321063C>T | CA358506286 | DCHS2 | c.4336G>A (p.Asp1446Asn) n.2970G>A c.2970G>A c.2971G>A (p.Asp991Asn) c.2005G>A (p.Asp669Asn) c.1897G>A (p.Asp633Asn) c.394G>A (p.Asp132Asn) | |
| 4 | g.154321064T>A | CA441803594 | DCHS2 | c.4335A>T (p.Ala1445=) n.2969A>T c.2969A>T c.2970A>T (p.Ala990=) c.2004A>T (p.Ala668=) c.1896A>T (p.Ala632=) c.393A>T (p.Ala131=) | |
| 4 | g.154321064T>C | CA441803595 | DCHS2 | c.4335A>G (p.Ala1445=) n.2969A>G c.2969A>G c.2970A>G (p.Ala990=) c.2004A>G (p.Ala668=) c.1896A>G (p.Ala632=) c.393A>G (p.Ala131=) | |
| 4 | g.154321064T>G | CA441803596 | DCHS2 | c.4335A>C (p.Ala1445=) n.2969A>C c.2969A>C c.2970A>C (p.Ala990=) c.2004A>C (p.Ala668=) c.1896A>C (p.Ala632=) c.393A>C (p.Ala131=) | |
| 4 | g.154321065G>A | CA358506289 | DCHS2 | c.4334C>T (p.Ala1445Val) n.2968C>T c.2968C>T c.2969C>T (p.Ala990Val) c.2003C>T (p.Ala668Val) c.1895C>T (p.Ala632Val) c.392C>T (p.Ala131Val) | |
| 4 | g.154321065G>C | CA358506288 | DCHS2 | c.4334C>G (p.Ala1445Gly) n.2968C>G c.2968C>G c.2969C>G (p.Ala990Gly) c.2003C>G (p.Ala668Gly) c.1895C>G (p.Ala632Gly) c.392C>G (p.Ala131Gly) | |
| 4 | g.154321065G= | CA1504821988 | DCHS2 | c.4334C= (p.Ala1445=) n.2968C= c.2968C= c.2969C= (p.Ala990=) c.2003C= (p.Ala668=) c.1895C= (p.Ala632=) c.392C= (p.Ala131=) | |
| 4 | g.154321065G>T | CA358506287 | DCHS2 | c.4334C>A (p.Ala1445Glu) n.2968C>A c.2968C>A c.2969C>A (p.Ala990Glu) c.2003C>A (p.Ala668Glu) c.1895C>A (p.Ala632Glu) c.392C>A (p.Ala131Glu) | dbSNP gnomAD v4 |
| 4 | g.154321066C>A | CA358506293 | DCHS2 | c.4333G>T (p.Ala1445Ser) n.2967G>T c.2967G>T c.2968G>T (p.Ala990Ser) c.2002G>T (p.Ala668Ser) c.1894G>T (p.Ala632Ser) c.391G>T (p.Ala131Ser) | |
| 4 | g.154321066C= | CA1504821989 | DCHS2 | c.4333G= (p.Ala1445=) n.2967G= c.2967G= c.2968G= (p.Ala990=) c.2002G= (p.Ala668=) c.1894G= (p.Ala632=) c.391G= (p.Ala131=) | |
| 4 | g.154321066C>G | CA358506290 | DCHS2 | c.4333G>C (p.Ala1445Pro) n.2967G>C c.2967G>C c.2968G>C (p.Ala990Pro) c.2002G>C (p.Ala668Pro) c.1894G>C (p.Ala632Pro) c.391G>C (p.Ala131Pro) | |
| 4 | g.154321066C>T | CA358506291 | DCHS2 | c.4333G>A (p.Ala1445Thr) n.2967G>A c.2967G>A c.2968G>A (p.Ala990Thr) c.2002G>A (p.Ala668Thr) c.1894G>A (p.Ala632Thr) c.391G>A (p.Ala131Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154321067A>C | CA441803600 | DCHS2 | c.4332T>G (p.Val1444=) n.2966T>G c.2966T>G c.2967T>G (p.Val989=) c.2001T>G (p.Val667=) c.1893T>G (p.Val631=) c.390T>G (p.Val130=) | |
| 4 | g.154321067A>G | CA441803601 | DCHS2 | c.4332T>C (p.Val1444=) n.2966T>C c.2966T>C c.2967T>C (p.Val989=) c.2001T>C (p.Val667=) c.1893T>C (p.Val631=) c.390T>C (p.Val130=) | |
| 4 | g.154321067A>T | CA441803602 | DCHS2 | c.4332T>A (p.Val1444=) n.2966T>A c.2966T>A c.2967T>A (p.Val989=) c.2001T>A (p.Val667=) c.1893T>A (p.Val631=) c.390T>A (p.Val130=) | |
| 4 | g.154321068A= | CA1504821990 | DCHS2 | c.4331T= (p.Val1444=) n.2965T= c.2965T= c.2966T= (p.Val989=) c.2000T= (p.Val667=) c.1892T= (p.Val631=) c.389T= (p.Val130=) | |
| 4 | g.154321068A>C | CA358506296 | DCHS2 | c.4331T>G (p.Val1444Gly) n.2965T>G c.2965T>G c.2966T>G (p.Val989Gly) c.2000T>G (p.Val667Gly) c.1892T>G (p.Val631Gly) c.389T>G (p.Val130Gly) | |
| 4 | g.154321068A>G | CA108712336 | DCHS2 | c.4331T>C (p.Val1444Ala) n.2965T>C c.2965T>C c.2966T>C (p.Val989Ala) c.2000T>C (p.Val667Ala) c.1892T>C (p.Val631Ala) c.389T>C (p.Val130Ala) | dbSNP |
| 4 | g.154321068A>T | CA358506298 | DCHS2 | c.4331T>A (p.Val1444Asp) n.2965T>A c.2965T>A c.2966T>A (p.Val989Asp) c.2000T>A (p.Val667Asp) c.1892T>A (p.Val631Asp) c.389T>A (p.Val130Asp) | |
| 4 | g.154321069C>A | CA358506301 | DCHS2 | c.4330G>T (p.Val1444Phe) n.2964G>T c.2964G>T c.2965G>T (p.Val989Phe) c.1999G>T (p.Val667Phe) c.1891G>T (p.Val631Phe) c.388G>T (p.Val130Phe) | dbSNP |
| 4 | g.154321069C= | CA1504821992 | DCHS2 | c.4330G= (p.Val1444=) n.2964G= c.2964G= c.2965G= (p.Val989=) c.1999G= (p.Val667=) c.1891G= (p.Val631=) c.388G= (p.Val130=) | |
| 4 | g.154321069C>G | CA358506302 | DCHS2 | c.4330G>C (p.Val1444Leu) n.2964G>C c.2964G>C c.2965G>C (p.Val989Leu) c.1999G>C (p.Val667Leu) c.1891G>C (p.Val631Leu) c.388G>C (p.Val130Leu) | |
| 4 | g.154321069C>T | CA358506305 | DCHS2 | c.4330G>A (p.Val1444Ile) n.2964G>A c.2964G>A c.2965G>A (p.Val989Ile) c.1999G>A (p.Val667Ile) c.1891G>A (p.Val631Ile) c.388G>A (p.Val130Ile) | |
| 4 | g.154321069_154321070delinsCA | CA1504821991 | DCHS2 | c.4329_4330delinsTG (p.Ile1443=) n.2963_2964delinsTG c.2963_2964delinsTG c.2964_2965delinsTG (p.Ile988=) c.1998_1999delinsTG (p.Ile666=) c.1890_1891delinsTG (p.Ile630=) c.387_388delinsTG (p.Ile129=) | |
| 4 | g.154321070A>C | CA358506307 | DCHS2 | c.4329T>G (p.Ile1443Met) n.2963T>G c.2963T>G c.2964T>G (p.Ile988Met) c.1998T>G (p.Ile666Met) c.1890T>G (p.Ile630Met) c.387T>G (p.Ile129Met) | |
| 4 | g.154321070A>G | CA441803606 | DCHS2 | c.4329T>C (p.Ile1443=) n.2963T>C c.2963T>C c.2964T>C (p.Ile988=) c.1998T>C (p.Ile666=) c.1890T>C (p.Ile630=) c.387T>C (p.Ile129=) | |
| 4 | g.154321070A>T | CA441803604 | DCHS2 | c.4329T>A (p.Ile1443=) n.2963T>A c.2963T>A c.2964T>A (p.Ile988=) c.1998T>A (p.Ile666=) c.1890T>A (p.Ile630=) c.387T>A (p.Ile129=) | |
| 4 | g.154321071del | CA3112873 | DCHS2 | c.4329del (p.Ile1443MetfsTer12) n.2963del c.2963del c.2964del (p.Ile988MetfsTer12) c.1998del (p.Ile666MetfsTer12) c.1890del (p.Ile630MetfsTer12) c.387del (p.Ile129MetfsTer12) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154321071A>C | CA358506310 | DCHS2 | c.4328T>G (p.Ile1443Ser) n.2962T>G c.2962T>G c.2963T>G (p.Ile988Ser) c.1997T>G (p.Ile666Ser) c.1889T>G (p.Ile630Ser) c.386T>G (p.Ile129Ser) | |
| 4 | g.154321071A>G | CA358506311 | DCHS2 | c.4328T>C (p.Ile1443Thr) n.2962T>C c.2962T>C c.2963T>C (p.Ile988Thr) c.1997T>C (p.Ile666Thr) c.1889T>C (p.Ile630Thr) c.386T>C (p.Ile129Thr) | |
| 4 | g.154321071A>T | CA358506312 | DCHS2 | c.4328T>A (p.Ile1443Asn) n.2962T>A c.2962T>A c.2963T>A (p.Ile988Asn) c.1997T>A (p.Ile666Asn) c.1889T>A (p.Ile630Asn) c.386T>A (p.Ile129Asn) | |
| 4 | g.154321072T>A | CA358506318 | DCHS2 | c.4327A>T (p.Ile1443Phe) n.2961A>T c.2961A>T c.2962A>T (p.Ile988Phe) c.1996A>T (p.Ile666Phe) c.1888A>T (p.Ile630Phe) c.385A>T (p.Ile129Phe) | |
| 4 | g.154321072T>C | CA358506314 | DCHS2 | c.4327A>G (p.Ile1443Val) n.2961A>G c.2961A>G c.2962A>G (p.Ile988Val) c.1996A>G (p.Ile666Val) c.1888A>G (p.Ile630Val) c.385A>G (p.Ile129Val) | |
| 4 | g.154321072T>G | CA358506316 | DCHS2 | c.4327A>C (p.Ile1443Leu) n.2961A>C c.2961A>C c.2962A>C (p.Ile988Leu) c.1996A>C (p.Ile666Leu) c.1888A>C (p.Ile630Leu) c.385A>C (p.Ile129Leu) | |
| 4 | g.154321073A= | CA1504821993 | DCHS2 | c.4326T= (p.Ser1442=) n.2960T= c.2960T= c.2961T= (p.Ser987=) c.1995T= (p.Ser665=) c.1887T= (p.Ser629=) c.384T= (p.Ser128=) | |
| 4 | g.154321073A>C | CA358506321 | DCHS2 | c.4326T>G (p.Ser1442Arg) n.2960T>G c.2960T>G c.2961T>G (p.Ser987Arg) c.1995T>G (p.Ser665Arg) c.1887T>G (p.Ser629Arg) c.384T>G (p.Ser128Arg) | |
| 4 | g.154321073A>G | CA441803607 | DCHS2 | c.4326T>C (p.Ser1442=) n.2960T>C c.2960T>C c.2961T>C (p.Ser987=) c.1995T>C (p.Ser665=) c.1887T>C (p.Ser629=) c.384T>C (p.Ser128=) | dbSNP gnomAD v4 |
| 4 | g.154321073A>T | CA358506323 | DCHS2 | c.4326T>A (p.Ser1442Arg) n.2960T>A c.2960T>A c.2961T>A (p.Ser987Arg) c.1995T>A (p.Ser665Arg) c.1887T>A (p.Ser629Arg) c.384T>A (p.Ser128Arg) | |
| 4 | g.154321074C>A | CA358506326 | DCHS2 | c.4325G>T (p.Ser1442Ile) n.2959G>T c.2959G>T c.2960G>T (p.Ser987Ile) c.1994G>T (p.Ser665Ile) c.1886G>T (p.Ser629Ile) c.383G>T (p.Ser128Ile) | |
| 4 | g.154321074C= | CA1504821994 | DCHS2 | c.4325G= (p.Ser1442=) n.2959G= c.2959G= c.2960G= (p.Ser987=) c.1994G= (p.Ser665=) c.1886G= (p.Ser629=) c.383G= (p.Ser128=) | |
| 4 | g.154321074C>G | CA358506327 | DCHS2 | c.4325G>C (p.Ser1442Thr) n.2959G>C c.2959G>C c.2960G>C (p.Ser987Thr) c.1994G>C (p.Ser665Thr) c.1886G>C (p.Ser629Thr) c.383G>C (p.Ser128Thr) | |
| 4 | g.154321074C>T | CA3112874 | DCHS2 | c.4325G>A (p.Ser1442Asn) n.2959G>A c.2959G>A c.2960G>A (p.Ser987Asn) c.1994G>A (p.Ser665Asn) c.1886G>A (p.Ser629Asn) c.383G>A (p.Ser128Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154321075T>A | CA358506329 | DCHS2 | c.4324A>T (p.Ser1442Cys) n.2958A>T c.2958A>T c.2959A>T (p.Ser987Cys) c.1993A>T (p.Ser665Cys) c.1885A>T (p.Ser629Cys) c.382A>T (p.Ser128Cys) | |
| 4 | g.154321075T>C | CA358506331 | DCHS2 | c.4324A>G (p.Ser1442Gly) n.2958A>G c.2958A>G c.2959A>G (p.Ser987Gly) c.1993A>G (p.Ser665Gly) c.1885A>G (p.Ser629Gly) c.382A>G (p.Ser128Gly) | |
| 4 | g.154321075T>G | CA358506333 | DCHS2 | c.4324A>C (p.Ser1442Arg) n.2958A>C c.2958A>C c.2959A>C (p.Ser987Arg) c.1993A>C (p.Ser665Arg) c.1885A>C (p.Ser629Arg) c.382A>C (p.Ser128Arg) | |
| 4 | g.154321075_154321076insGAT | CA2528906574 | DCHS2 | c.4324_4325insTCA (p.Phe1441_Ser1442insIle) n.2958_2959insTCA c.2958_2959insTCA c.2959_2960insTCA (p.Phe986_Ser987insIle) c.1993_1994insTCA (p.Phe664_Ser665insIle) c.1885_1886insTCA (p.Phe628_Ser629insIle) c.382_383insTCA (p.Phe127_Ser128insIle) | |
| 4 | g.154321076A>C | CA358506335 | DCHS2 | c.4323T>G (p.Phe1441Leu) n.2957T>G c.2957T>G c.2958T>G (p.Phe986Leu) c.1992T>G (p.Phe664Leu) c.1884T>G (p.Phe628Leu) c.381T>G (p.Phe127Leu) | gnomAD v4 |
| 4 | g.154321076A>G | CA441803609 | DCHS2 | c.4323T>C (p.Phe1441=) n.2957T>C c.2957T>C c.2958T>C (p.Phe986=) c.1992T>C (p.Phe664=) c.1884T>C (p.Phe628=) c.381T>C (p.Phe127=) | |
| 4 | g.154321076A>T | CA358506336 | DCHS2 | c.4323T>A (p.Phe1441Leu) n.2957T>A c.2957T>A c.2958T>A (p.Phe986Leu) c.1992T>A (p.Phe664Leu) c.1884T>A (p.Phe628Leu) c.381T>A (p.Phe127Leu) | |
| 4 | g.154321077A>C | CA358506339 | DCHS2 | c.4322T>G (p.Phe1441Cys) n.2956T>G c.2956T>G c.2957T>G (p.Phe986Cys) c.1991T>G (p.Phe664Cys) c.1883T>G (p.Phe628Cys) c.380T>G (p.Phe127Cys) | COSMIC |
| 4 | g.154321077A>G | CA358506341 | DCHS2 | c.4322T>C (p.Phe1441Ser) n.2956T>C c.2956T>C c.2957T>C (p.Phe986Ser) c.1991T>C (p.Phe664Ser) c.1883T>C (p.Phe628Ser) c.380T>C (p.Phe127Ser) | |
| 4 | g.154321077A>T | CA358506342 | DCHS2 | c.4322T>A (p.Phe1441Tyr) n.2956T>A c.2956T>A c.2957T>A (p.Phe986Tyr) c.1991T>A (p.Phe664Tyr) c.1883T>A (p.Phe628Tyr) c.380T>A (p.Phe127Tyr) | |
| 4 | g.154321078A>C | CA358506347 | DCHS2 | c.4321T>G (p.Phe1441Val) n.2955T>G c.2955T>G c.2956T>G (p.Phe986Val) c.1990T>G (p.Phe664Val) c.1882T>G (p.Phe628Val) c.379T>G (p.Phe127Val) | |
| 4 | g.154321078A>G | CA358506351 | DCHS2 | c.4321T>C (p.Phe1441Leu) n.2955T>C c.2955T>C c.2956T>C (p.Phe986Leu) c.1990T>C (p.Phe664Leu) c.1882T>C (p.Phe628Leu) c.379T>C (p.Phe127Leu) | |
| 4 | g.154321078A>T | CA358506345 | DCHS2 | c.4321T>A (p.Phe1441Ile) n.2955T>A c.2955T>A c.2956T>A (p.Phe986Ile) c.1990T>A (p.Phe664Ile) c.1882T>A (p.Phe628Ile) c.379T>A (p.Phe127Ile) | |
| 4 | g.154321079A>C | CA358506353 | DCHS2 | c.4320T>G (p.His1440Gln) n.2954T>G c.2954T>G c.2955T>G (p.His985Gln) c.1989T>G (p.His663Gln) c.1881T>G (p.His627Gln) c.378T>G (p.His126Gln) | |
| 4 | g.154321079A>G | CA441803614 | DCHS2 | c.4320T>C (p.His1440=) n.2954T>C c.2954T>C c.2955T>C (p.His985=) c.1989T>C (p.His663=) c.1881T>C (p.His627=) c.378T>C (p.His126=) | |
| 4 | g.154321079A>T | CA358506355 | DCHS2 | c.4320T>A (p.His1440Gln) n.2954T>A c.2954T>A c.2955T>A (p.His985Gln) c.1989T>A (p.His663Gln) c.1881T>A (p.His627Gln) c.378T>A (p.His126Gln) | |
| 4 | g.154321080T>A | CA358506359 | DCHS2 | c.4319A>T (p.His1440Leu) n.2953A>T c.2953A>T c.2954A>T (p.His985Leu) c.1988A>T (p.His663Leu) c.1880A>T (p.His627Leu) c.377A>T (p.His126Leu) | |
| 4 | g.154321080T>C | CA358506362 | DCHS2 | c.4319A>G (p.His1440Arg) n.2953A>G c.2953A>G c.2954A>G (p.His985Arg) c.1988A>G (p.His663Arg) c.1880A>G (p.His627Arg) c.377A>G (p.His126Arg) | |
| 4 | g.154321080T>G | CA358506365 | DCHS2 | c.4319A>C (p.His1440Pro) n.2953A>C c.2953A>C c.2954A>C (p.His985Pro) c.1988A>C (p.His663Pro) c.1880A>C (p.His627Pro) c.377A>C (p.His126Pro) | |
| 4 | g.154321081G>A | CA358506367 | DCHS2 | c.4318C>T (p.His1440Tyr) n.2952C>T c.2952C>T c.2953C>T (p.His985Tyr) c.1987C>T (p.His663Tyr) c.1879C>T (p.His627Tyr) c.376C>T (p.His126Tyr) | |
| 4 | g.154321081G>C | CA358506369 | DCHS2 | c.4318C>G (p.His1440Asp) n.2952C>G c.2952C>G c.2953C>G (p.His985Asp) c.1987C>G (p.His663Asp) c.1879C>G (p.His627Asp) c.376C>G (p.His126Asp) | |
| 4 | g.154321081G>T | CA358506371 | DCHS2 | c.4318C>A (p.His1440Asn) n.2952C>A c.2952C>A c.2953C>A (p.His985Asn) c.1987C>A (p.His663Asn) c.1879C>A (p.His627Asn) c.376C>A (p.His126Asn) | |
| 4 | g.154321082T>A | CA358506376 | DCHS2 | c.4317A>T (p.Leu1439Phe) n.2951A>T c.2951A>T c.2952A>T (p.Leu984Phe) c.1986A>T (p.Leu662Phe) c.1878A>T (p.Leu626Phe) c.375A>T (p.Leu125Phe) | |
| 4 | g.154321082T>C | CA3112875 | DCHS2 | c.4317A>G (p.Leu1439=) n.2951A>G c.2951A>G c.2952A>G (p.Leu984=) c.1986A>G (p.Leu662=) c.1878A>G (p.Leu626=) c.375A>G (p.Leu125=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.154321082T>G | CA358506380 | DCHS2 | c.4317A>C (p.Leu1439Phe) n.2951A>C c.2951A>C c.2952A>C (p.Leu984Phe) c.1986A>C (p.Leu662Phe) c.1878A>C (p.Leu626Phe) c.375A>C (p.Leu125Phe) | |
| 4 | g.154321082T= | CA1504821995 | DCHS2 | c.4317A= (p.Leu1439=) n.2951A= c.2951A= c.2952A= (p.Leu984=) c.1986A= (p.Leu662=) c.1878A= (p.Leu626=) c.375A= (p.Leu125=) | |
| 4 | g.154321082dup | CA2672428541 | DCHS2 | c.4317dup (p.His1440ThrfsTer3) n.2951dup c.2951dup c.2952dup (p.His985ThrfsTer3) c.1986dup (p.His663ThrfsTer3) c.1878dup (p.His627ThrfsTer3) c.375dup (p.His126ThrfsTer3) | gnomAD v4 |
| 4 | g.154321083A>C | CA358506383 | DCHS2 | c.4316T>G (p.Leu1439Ter) n.2950T>G c.2950T>G c.2951T>G (p.Leu984Ter) c.1985T>G (p.Leu662Ter) c.1877T>G (p.Leu626Ter) c.374T>G (p.Leu125Ter) | |
| 4 | g.154321083A>G | CA358506385 | DCHS2 | c.4316T>C (p.Leu1439Ser) n.2950T>C c.2950T>C c.2951T>C (p.Leu984Ser) c.1985T>C (p.Leu662Ser) c.1877T>C (p.Leu626Ser) c.374T>C (p.Leu125Ser) | gnomAD v4 |
| 4 | g.154321083A>T | CA358506388 | DCHS2 | c.4316T>A (p.Leu1439Ter) n.2950T>A c.2950T>A c.2951T>A (p.Leu984Ter) c.1985T>A (p.Leu662Ter) c.1877T>A (p.Leu626Ter) c.374T>A (p.Leu125Ter) | |
| 4 | g.154321084A>C | CA358506392 | DCHS2 | c.4315T>G (p.Leu1439Val) n.2949T>G c.2949T>G c.2950T>G (p.Leu984Val) c.1984T>G (p.Leu662Val) c.1876T>G (p.Leu626Val) c.373T>G (p.Leu125Val) | |
| 4 | g.154321084A>G | CA441803616 | DCHS2 | c.4315T>C (p.Leu1439=) n.2949T>C c.2949T>C c.2950T>C (p.Leu984=) c.1984T>C (p.Leu662=) c.1876T>C (p.Leu626=) c.373T>C (p.Leu125=) | COSMIC |
| 4 | g.154321084A>T | CA358506394 | DCHS2 | c.4315T>A (p.Leu1439Ile) n.2949T>A c.2949T>A c.2950T>A (p.Leu984Ile) c.1984T>A (p.Leu662Ile) c.1876T>A (p.Leu626Ile) c.373T>A (p.Leu125Ile) | |
| 4 | g.154321085C>A | CA358506396 | DCHS2 | c.4314G>T (p.Lys1438Asn) n.2948G>T c.2948G>T c.2949G>T (p.Lys983Asn) c.1983G>T (p.Lys661Asn) c.1875G>T (p.Lys625Asn) c.372G>T (p.Lys124Asn) | gnomAD v4 |
| 4 | g.154321085C>G | CA358506399 | DCHS2 | c.4314G>C (p.Lys1438Asn) n.2948G>C c.2948G>C c.2949G>C (p.Lys983Asn) c.1983G>C (p.Lys661Asn) c.1875G>C (p.Lys625Asn) c.372G>C (p.Lys124Asn) | |
| 4 | g.154321085C>T | CA441803617 | DCHS2 | c.4314G>A (p.Lys1438=) n.2948G>A c.2948G>A c.2949G>A (p.Lys983=) c.1983G>A (p.Lys661=) c.1875G>A (p.Lys625=) c.372G>A (p.Lys124=) | COSMIC |
| 4 | g.154321086T>A | CA358506402 | DCHS2 | c.4313A>T (p.Lys1438Met) n.2947A>T c.2947A>T c.2948A>T (p.Lys983Met) c.1982A>T (p.Lys661Met) c.1874A>T (p.Lys625Met) c.371A>T (p.Lys124Met) | |
| 4 | g.154321086T>C | CA358506404 | DCHS2 | c.4313A>G (p.Lys1438Arg) n.2947A>G c.2947A>G c.2948A>G (p.Lys983Arg) c.1982A>G (p.Lys661Arg) c.1874A>G (p.Lys625Arg) c.371A>G (p.Lys124Arg) | |
| 4 | g.154321086T>G | CA358506407 | DCHS2 | c.4313A>C (p.Lys1438Thr) n.2947A>C c.2947A>C c.2948A>C (p.Lys983Thr) c.1982A>C (p.Lys661Thr) c.1874A>C (p.Lys625Thr) c.371A>C (p.Lys124Thr) | |
| 4 | g.154321087T>A | CA358506410 | DCHS2 | c.4312A>T (p.Lys1438Ter) n.2946A>T c.2946A>T c.2947A>T (p.Lys983Ter) c.1981A>T (p.Lys661Ter) c.1873A>T (p.Lys625Ter) c.370A>T (p.Lys124Ter) | |
| 4 | g.154321087T>C | CA358506414 | DCHS2 | c.4312A>G (p.Lys1438Glu) n.2946A>G c.2946A>G c.2947A>G (p.Lys983Glu) c.1981A>G (p.Lys661Glu) c.1873A>G (p.Lys625Glu) c.370A>G (p.Lys124Glu) | |
| 4 | g.154321087T>G | CA358506417 | DCHS2 | c.4312A>C (p.Lys1438Gln) n.2946A>C c.2946A>C c.2947A>C (p.Lys983Gln) c.1981A>C (p.Lys661Gln) c.1873A>C (p.Lys625Gln) c.370A>C (p.Lys124Gln) | |
| 4 | g.154321088T>A | CA441803618 | DCHS2 | c.4311A>T (p.Gly1437=) n.2945A>T c.2945A>T c.2946A>T (p.Gly982=) c.1980A>T (p.Gly660=) c.1872A>T (p.Gly624=) c.369A>T (p.Gly123=) | |
| 4 | g.154321088T>C | CA441803619 | DCHS2 | c.4311A>G (p.Gly1437=) n.2945A>G c.2945A>G c.2946A>G (p.Gly982=) c.1980A>G (p.Gly660=) c.1872A>G (p.Gly624=) c.369A>G (p.Gly123=) | |
| 4 | g.154321088T>G | CA441803620 | DCHS2 | c.4311A>C (p.Gly1437=) n.2945A>C c.2945A>C c.2946A>C (p.Gly982=) c.1980A>C (p.Gly660=) c.1872A>C (p.Gly624=) c.369A>C (p.Gly123=) | |
| 4 | g.154321089C>A | CA358506418 | DCHS2 | c.4310G>T (p.Gly1437Val) n.2944G>T c.2944G>T c.2945G>T (p.Gly982Val) c.1979G>T (p.Gly660Val) c.1871G>T (p.Gly624Val) c.368G>T (p.Gly123Val) | COSMIC |
| 4 | g.154321089C>G | CA358506421 | DCHS2 | c.4310G>C (p.Gly1437Ala) n.2944G>C c.2944G>C c.2945G>C (p.Gly982Ala) c.1979G>C (p.Gly660Ala) c.1871G>C (p.Gly624Ala) c.368G>C (p.Gly123Ala) | |
| 4 | g.154321089C>T | CA358506423 | DCHS2 | c.4310G>A (p.Gly1437Glu) n.2944G>A c.2944G>A c.2945G>A (p.Gly982Glu) c.1979G>A (p.Gly660Glu) c.1871G>A (p.Gly624Glu) c.368G>A (p.Gly123Glu) | |
| 4 | g.154321090C>A | CA358506426 | DCHS2 | c.4309G>T (p.Gly1437Ter) n.2943G>T c.2943G>T c.2944G>T (p.Gly982Ter) c.1978G>T (p.Gly660Ter) c.1870G>T (p.Gly624Ter) c.367G>T (p.Gly123Ter) | |
| 4 | g.154321090C= | CA1504821996 | DCHS2 | c.4309G= (p.Gly1437=) n.2943G= c.2943G= c.2944G= (p.Gly982=) c.1978G= (p.Gly660=) c.1870G= (p.Gly624=) c.367G= (p.Gly123=) | |
| 4 | g.154321090C>G | CA358506429 | DCHS2 | c.4309G>C (p.Gly1437Arg) n.2943G>C c.2943G>C c.2944G>C (p.Gly982Arg) c.1978G>C (p.Gly660Arg) c.1870G>C (p.Gly624Arg) c.367G>C (p.Gly123Arg) | |
| 4 | g.154321090C>T | CA358506431 | DCHS2 | c.4309G>A (p.Gly1437Arg) n.2943G>A c.2943G>A c.2944G>A (p.Gly982Arg) c.1978G>A (p.Gly660Arg) c.1870G>A (p.Gly624Arg) c.367G>A (p.Gly123Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.154321091A= | CA1504821997 | DCHS2 | c.4308T= (p.Asn1436=) n.2942T= c.2942T= c.2943T= (p.Asn981=) c.1977T= (p.Asn659=) c.1869T= (p.Asn623=) c.366T= (p.Asn122=) | |
| 4 | g.154321091A>C | CA358506433 | DCHS2 | c.4308T>G (p.Asn1436Lys) n.2942T>G c.2942T>G c.2943T>G (p.Asn981Lys) c.1977T>G (p.Asn659Lys) c.1869T>G (p.Asn623Lys) c.366T>G (p.Asn122Lys) | |
| 4 | g.154321091A>G | CA108712357 | DCHS2 | c.4308T>C (p.Asn1436=) n.2942T>C c.2942T>C c.2943T>C (p.Asn981=) c.1977T>C (p.Asn659=) c.1869T>C (p.Asn623=) c.366T>C (p.Asn122=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.154321091A>T | CA358506436 | DCHS2 | c.4308T>A (p.Asn1436Lys) n.2942T>A c.2942T>A c.2943T>A (p.Asn981Lys) c.1977T>A (p.Asn659Lys) c.1869T>A (p.Asn623Lys) c.366T>A (p.Asn122Lys) | |
| 4 | g.154321092T>A | CA358506439 | DCHS2 | c.4307A>T (p.Asn1436Ile) n.2941A>T c.2941A>T c.2942A>T (p.Asn981Ile) c.1976A>T (p.Asn659Ile) c.1868A>T (p.Asn623Ile) c.365A>T (p.Asn122Ile) | |
| 4 | g.154321092T>C | CA3112876 | DCHS2 | c.4307A>G (p.Asn1436Ser) n.2941A>G c.2941A>G c.2942A>G (p.Asn981Ser) c.1976A>G (p.Asn659Ser) c.1868A>G (p.Asn623Ser) c.365A>G (p.Asn122Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.154321092T>G | CA358506445 | DCHS2 | c.4307A>C (p.Asn1436Thr) n.2941A>C c.2941A>C c.2942A>C (p.Asn981Thr) c.1976A>C (p.Asn659Thr) c.1868A>C (p.Asn623Thr) c.365A>C (p.Asn122Thr) | |
| 4 | g.154321092T= | CA1504821998 | DCHS2 | c.4307A= (p.Asn1436=) n.2941A= c.2941A= c.2942A= (p.Asn981=) c.1976A= (p.Asn659=) c.1868A= (p.Asn623=) c.365A= (p.Asn122=) | |
| 4 | g.154321093T>A | CA358506449 | DCHS2 | c.4306A>T (p.Asn1436Tyr) n.2940A>T c.2940A>T c.2941A>T (p.Asn981Tyr) c.1975A>T (p.Asn659Tyr) c.1867A>T (p.Asn623Tyr) c.364A>T (p.Asn122Tyr) | |
| 4 | g.154321093T>C | CA358506451 | DCHS2 | c.4306A>G (p.Asn1436Asp) n.2940A>G c.2940A>G c.2941A>G (p.Asn981Asp) c.1975A>G (p.Asn659Asp) c.1867A>G (p.Asn623Asp) c.364A>G (p.Asn122Asp) | |
| 4 | g.154321093T>G | CA358506452 | DCHS2 | c.4306A>C (p.Asn1436His) n.2940A>C c.2940A>C c.2941A>C (p.Asn981His) c.1975A>C (p.Asn659His) c.1867A>C (p.Asn623His) c.364A>C (p.Asn122His) | |
| 4 | g.154321094A>C | CA358506454 | DCHS2 | c.4305T>G (p.Tyr1435Ter) n.2939T>G c.2939T>G c.2940T>G (p.Tyr980Ter) c.1974T>G (p.Tyr658Ter) c.1866T>G (p.Tyr622Ter) c.363T>G (p.Tyr121Ter) | |
| 4 | g.154321094A>G | CA441803630 | DCHS2 | c.4305T>C (p.Tyr1435=) n.2939T>C c.2939T>C c.2940T>C (p.Tyr980=) c.1974T>C (p.Tyr658=) c.1866T>C (p.Tyr622=) c.363T>C (p.Tyr121=) | gnomAD v4 |
| 4 | g.154321094A>T | CA358506459 | DCHS2 | c.4305T>A (p.Tyr1435Ter) n.2939T>A c.2939T>A c.2940T>A (p.Tyr980Ter) c.1974T>A (p.Tyr658Ter) c.1866T>A (p.Tyr622Ter) c.363T>A (p.Tyr121Ter) | |
| 4 | g.154321095T>A | CA358506463 | DCHS2 | c.4304A>T (p.Tyr1435Phe) n.2938A>T c.2938A>T c.2939A>T (p.Tyr980Phe) c.1973A>T (p.Tyr658Phe) c.1865A>T (p.Tyr622Phe) c.362A>T (p.Tyr121Phe) | |
| 4 | g.154321095T>C | CA358506464 | DCHS2 | c.4304A>G (p.Tyr1435Cys) n.2938A>G c.2938A>G c.2939A>G (p.Tyr980Cys) c.1973A>G (p.Tyr658Cys) c.1865A>G (p.Tyr622Cys) c.362A>G (p.Tyr121Cys) | gnomAD v4 |
| 4 | g.154321095T>G | CA358506467 | DCHS2 | c.4304A>C (p.Tyr1435Ser) n.2938A>C c.2938A>C c.2939A>C (p.Tyr980Ser) c.1973A>C (p.Tyr658Ser) c.1865A>C (p.Tyr622Ser) c.362A>C (p.Tyr121Ser) | |
| 4 | g.154321096A>C | CA358506470 | DCHS2 | c.4303T>G (p.Tyr1435Asp) n.2937T>G c.2937T>G c.2938T>G (p.Tyr980Asp) c.1972T>G (p.Tyr658Asp) c.1864T>G (p.Tyr622Asp) c.361T>G (p.Tyr121Asp) | |
| 4 | g.154321096A>G | CA358506473 | DCHS2 | c.4303T>C (p.Tyr1435His) n.2937T>C c.2937T>C c.2938T>C (p.Tyr980His) c.1972T>C (p.Tyr658His) c.1864T>C (p.Tyr622His) c.361T>C (p.Tyr121His) | |
| 4 | g.154321096A>T | CA358506476 | DCHS2 | c.4303T>A (p.Tyr1435Asn) n.2937T>A c.2937T>A c.2938T>A (p.Tyr980Asn) c.1972T>A (p.Tyr658Asn) c.1864T>A (p.Tyr622Asn) c.361T>A (p.Tyr121Asn) | |
| 4 | g.154321097A>C | CA358506480 | DCHS2 | c.4302T>G (p.His1434Gln) n.2936T>G c.2936T>G c.2937T>G (p.His979Gln) c.1971T>G (p.His657Gln) c.1863T>G (p.His621Gln) c.360T>G (p.His120Gln) | |
| 4 | g.154321097A>G | CA441803636 | DCHS2 | c.4302T>C (p.His1434=) n.2936T>C c.2936T>C c.2937T>C (p.His979=) c.1971T>C (p.His657=) c.1863T>C (p.His621=) c.360T>C (p.His120=) | |
| 4 | g.154321097A>T | CA358506481 | DCHS2 | c.4302T>A (p.His1434Gln) n.2936T>A c.2936T>A c.2937T>A (p.His979Gln) c.1971T>A (p.His657Gln) c.1863T>A (p.His621Gln) c.360T>A (p.His120Gln) | |
| 4 | g.154321097_154321100delinsATGT | CA1504821999 | DCHS2 | c.4299_4302delinsACAT (p.Gln1433=) n.2933_2936delinsACAT c.2933_2936delinsACAT c.2934_2937delinsACAT (p.Gln978=) c.1968_1971delinsACAT (p.Gln656=) c.1860_1863delinsACAT (p.Gln620=) c.357_360delinsACAT (p.Gln119=) | |
| 4 | g.154321098T>A | CA358506487 | DCHS2 | c.4301A>T (p.His1434Leu) n.2935A>T c.2935A>T c.2936A>T (p.His979Leu) c.1970A>T (p.His657Leu) c.1862A>T (p.His621Leu) c.359A>T (p.His120Leu) | |
| 4 | g.154321098T>C | CA358506489 | DCHS2 | c.4301A>G (p.His1434Arg) n.2935A>G c.2935A>G c.2936A>G (p.His979Arg) c.1970A>G (p.His657Arg) c.1862A>G (p.His621Arg) c.359A>G (p.His120Arg) | |
| 4 | g.154321098T>G | CA358506493 | DCHS2 | c.4301A>C (p.His1434Pro) n.2935A>C c.2935A>C c.2936A>C (p.His979Pro) c.1970A>C (p.His657Pro) c.1862A>C (p.His621Pro) c.359A>C (p.His120Pro) | |
| 4 | g.154321103_154321105del | CA1504822000 | DCHS2 | c.4299_4301del (p.Gln1433del) n.2933_2935del c.2933_2935del c.2934_2936del (p.Gln978del) c.1968_1970del (p.Gln656del) c.1860_1862del (p.Gln620del) c.357_359del (p.Gln119del) | dbSNP |
| 4 | g.154321099G>A | CA358506497 | DCHS2 | c.4300C>T (p.His1434Tyr) n.2934C>T c.2934C>T c.2935C>T (p.His979Tyr) c.1969C>T (p.His657Tyr) c.1861C>T (p.His621Tyr) c.358C>T (p.His120Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154321099G>C | CA358506498 | DCHS2 | c.4300C>G (p.His1434Asp) n.2934C>G c.2934C>G c.2935C>G (p.His979Asp) c.1969C>G (p.His657Asp) c.1861C>G (p.His621Asp) c.358C>G (p.His120Asp) | |
| 4 | g.154321099G= | CA1504822001 | DCHS2 | c.4300C= (p.His1434=) n.2934C= c.2934C= c.2935C= (p.His979=) c.1969C= (p.His657=) c.1861C= (p.His621=) c.358C= (p.His120=) | |
| 4 | g.154321099G>T | CA358506500 | DCHS2 | c.4300C>A (p.His1434Asn) n.2934C>A c.2934C>A c.2935C>A (p.His979Asn) c.1969C>A (p.His657Asn) c.1861C>A (p.His621Asn) c.358C>A (p.His120Asn) | |
| 4 | g.154321100T>A | CA358506502 | DCHS2 | c.4299A>T (p.Gln1433His) n.2933A>T c.2933A>T c.2934A>T (p.Gln978His) c.1968A>T (p.Gln656His) c.1860A>T (p.Gln620His) c.357A>T (p.Gln119His) | |
| 4 | g.154321100T>C | CA441803644 | DCHS2 | c.4299A>G (p.Gln1433=) n.2933A>G c.2933A>G c.2934A>G (p.Gln978=) c.1968A>G (p.Gln656=) c.1860A>G (p.Gln620=) c.357A>G (p.Gln119=) | |
| 4 | g.154321100T>G | CA358506504 | DCHS2 | c.4299A>C (p.Gln1433His) n.2933A>C c.2933A>C c.2934A>C (p.Gln978His) c.1968A>C (p.Gln656His) c.1860A>C (p.Gln620His) c.357A>C (p.Gln119His) | |
| 4 | g.154321101T>A | CA358506508 | DCHS2 | c.4298A>T (p.Gln1433Leu) n.2932A>T c.2932A>T c.2933A>T (p.Gln978Leu) c.1967A>T (p.Gln656Leu) c.1859A>T (p.Gln620Leu) c.356A>T (p.Gln119Leu) | |
| 4 | g.154321101T>C | CA358506510 | DCHS2 | c.4298A>G (p.Gln1433Arg) n.2932A>G c.2932A>G c.2933A>G (p.Gln978Arg) c.1967A>G (p.Gln656Arg) c.1859A>G (p.Gln620Arg) c.356A>G (p.Gln119Arg) | |
| 4 | g.154321101T>G | CA358506513 | DCHS2 | c.4298A>C (p.Gln1433Pro) n.2932A>C c.2932A>C c.2933A>C (p.Gln978Pro) c.1967A>C (p.Gln656Pro) c.1859A>C (p.Gln620Pro) c.356A>C (p.Gln119Pro) | |
| 4 | g.154321102G>A | CA3112877 | DCHS2 | c.4297C>T (p.Gln1433Ter) n.2931C>T c.2931C>T c.2932C>T (p.Gln978Ter) c.1966C>T (p.Gln656Ter) c.1858C>T (p.Gln620Ter) c.355C>T (p.Gln119Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154321102G>C | CA358506520 | DCHS2 | c.4297C>G (p.Gln1433Glu) n.2931C>G c.2931C>G c.2932C>G (p.Gln978Glu) c.1966C>G (p.Gln656Glu) c.1858C>G (p.Gln620Glu) c.355C>G (p.Gln119Glu) | |
| 4 | g.154321102G= | CA1504822002 | DCHS2 | c.4297C= (p.Gln1433=) n.2931C= c.2931C= c.2932C= (p.Gln978=) c.1966C= (p.Gln656=) c.1858C= (p.Gln620=) c.355C= (p.Gln119=) | |
| 4 | g.154321102G>T | CA358506517 | DCHS2 | c.4297C>A (p.Gln1433Lys) n.2931C>A c.2931C>A c.2932C>A (p.Gln978Lys) c.1966C>A (p.Gln656Lys) c.1858C>A (p.Gln620Lys) c.355C>A (p.Gln119Lys) | |
| 4 | g.154321103T>A | CA358506522 | DCHS2 | c.4296A>T (p.Gln1432His) n.2930A>T c.2930A>T c.2931A>T (p.Gln977His) c.1965A>T (p.Gln655His) c.1857A>T (p.Gln619His) c.354A>T (p.Gln118His) | |
| 4 | g.154321103T>C | CA441803648 | DCHS2 | c.4296A>G (p.Gln1432=) n.2930A>G c.2930A>G c.2931A>G (p.Gln977=) c.1965A>G (p.Gln655=) c.1857A>G (p.Gln619=) c.354A>G (p.Gln118=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.154321103T>G | CA358506524 | DCHS2 | c.4296A>C (p.Gln1432His) n.2930A>C c.2930A>C c.2931A>C (p.Gln977His) c.1965A>C (p.Gln655His) c.1857A>C (p.Gln619His) c.354A>C (p.Gln118His) | |
| 4 | g.154321103T= | CA1504822003 | DCHS2 | c.4296A= (p.Gln1432=) n.2930A= c.2930A= c.2931A= (p.Gln977=) c.1965A= (p.Gln655=) c.1857A= (p.Gln619=) c.354A= (p.Gln118=) | |
| 4 | g.154321104T>A | CA358506529 | DCHS2 | c.4295A>T (p.Gln1432Leu) n.2929A>T c.2929A>T c.2930A>T (p.Gln977Leu) c.1964A>T (p.Gln655Leu) c.1856A>T (p.Gln619Leu) c.353A>T (p.Gln118Leu) | |
| 4 | g.154321104T>C | CA358506535 | DCHS2 | c.4295A>G (p.Gln1432Arg) n.2929A>G c.2929A>G c.2930A>G (p.Gln977Arg) c.1964A>G (p.Gln655Arg) c.1856A>G (p.Gln619Arg) c.353A>G (p.Gln118Arg) | |
| 4 | g.154321104T>G | CA358506532 | DCHS2 | c.4295A>C (p.Gln1432Pro) n.2929A>C c.2929A>C c.2930A>C (p.Gln977Pro) c.1964A>C (p.Gln655Pro) c.1856A>C (p.Gln619Pro) c.353A>C (p.Gln118Pro) | dbSNP gnomAD v4 |
| 4 | g.154321104T= | CA1504822004 | DCHS2 | c.4295A= (p.Gln1432=) n.2929A= c.2929A= c.2930A= (p.Gln977=) c.1964A= (p.Gln655=) c.1856A= (p.Gln619=) c.353A= (p.Gln118=) | |
| 4 | g.154321105G>A | CA358506540 | DCHS2 | c.4294C>T (p.Gln1432Ter) n.2928C>T c.2928C>T c.2929C>T (p.Gln977Ter) c.1963C>T (p.Gln655Ter) c.1855C>T (p.Gln619Ter) c.352C>T (p.Gln118Ter) | |
| 4 | g.154321105G>C | CA358506541 | DCHS2 | c.4294C>G (p.Gln1432Glu) n.2928C>G c.2928C>G c.2929C>G (p.Gln977Glu) c.1963C>G (p.Gln655Glu) c.1855C>G (p.Gln619Glu) c.352C>G (p.Gln118Glu) | |
| 4 | g.154321105G= | CA1504822005 | DCHS2 | c.4294C= (p.Gln1432=) n.2928C= c.2928C= c.2929C= (p.Gln977=) c.1963C= (p.Gln655=) c.1855C= (p.Gln619=) c.352C= (p.Gln118=) | |
| 4 | g.154321105G>T | CA108712392 | DCHS2 | c.4294C>A (p.Gln1432Lys) n.2928C>A c.2928C>A c.2929C>A (p.Gln977Lys) c.1963C>A (p.Gln655Lys) c.1855C>A (p.Gln619Lys) c.352C>A (p.Gln118Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.154321106A= | CA1504822006 | DCHS2 | c.4293T= (p.Leu1431=) n.2927T= c.2927T= c.2928T= (p.Leu976=) c.1962T= (p.Leu654=) c.1854T= (p.Leu618=) c.351T= (p.Leu117=) | |
| 4 | g.154321106A>C | CA441803650 | DCHS2 | c.4293T>G (p.Leu1431=) n.2927T>G c.2927T>G c.2928T>G (p.Leu976=) c.1962T>G (p.Leu654=) c.1854T>G (p.Leu618=) c.351T>G (p.Leu117=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154321106A>G | CA441803651 | DCHS2 | c.4293T>C (p.Leu1431=) n.2927T>C c.2927T>C c.2928T>C (p.Leu976=) c.1962T>C (p.Leu654=) c.1854T>C (p.Leu618=) c.351T>C (p.Leu117=) | |
| 4 | g.154321106A>T | CA441803653 | DCHS2 | c.4293T>A (p.Leu1431=) n.2927T>A c.2927T>A c.2928T>A (p.Leu976=) c.1962T>A (p.Leu654=) c.1854T>A (p.Leu618=) c.351T>A (p.Leu117=) | |
| 4 | g.154321107A= | CA1504822007 | DCHS2 | c.4292T= (p.Leu1431=) n.2926T= c.2926T= c.2927T= (p.Leu976=) c.1961T= (p.Leu654=) c.1853T= (p.Leu618=) c.350T= (p.Leu117=) | |
| 4 | g.154321107A>C | CA358506546 | DCHS2 | c.4292T>G (p.Leu1431Arg) n.2926T>G c.2926T>G c.2927T>G (p.Leu976Arg) c.1961T>G (p.Leu654Arg) c.1853T>G (p.Leu618Arg) c.350T>G (p.Leu117Arg) | |
| 4 | g.154321107A>G | CA3112878 | DCHS2 | c.4292T>C (p.Leu1431Pro) n.2926T>C c.2926T>C c.2927T>C (p.Leu976Pro) c.1961T>C (p.Leu654Pro) c.1853T>C (p.Leu618Pro) c.350T>C (p.Leu117Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.154321107A>T | CA358506548 | DCHS2 | c.4292T>A (p.Leu1431His) n.2926T>A c.2926T>A c.2927T>A (p.Leu976His) c.1961T>A (p.Leu654His) c.1853T>A (p.Leu618His) c.350T>A (p.Leu117His) | |
| 4 | g.154321108G>A | CA358506554 | DCHS2 | c.4291C>T (p.Leu1431Phe) n.2925C>T c.2925C>T c.2926C>T (p.Leu976Phe) c.1960C>T (p.Leu654Phe) c.1852C>T (p.Leu618Phe) c.349C>T (p.Leu117Phe) | |
| 4 | g.154321108G>C | CA358506558 | DCHS2 | c.4291C>G (p.Leu1431Val) n.2925C>G c.2925C>G c.2926C>G (p.Leu976Val) c.1960C>G (p.Leu654Val) c.1852C>G (p.Leu618Val) c.349C>G (p.Leu117Val) | |
| 4 | g.154321108G>T | CA358506556 | DCHS2 | c.4291C>A (p.Leu1431Ile) n.2925C>A c.2925C>A c.2926C>A (p.Leu976Ile) c.1960C>A (p.Leu654Ile) c.1852C>A (p.Leu618Ile) c.349C>A (p.Leu117Ile) | COSMIC |
| 4 | g.154321109G>A | CA3112879 | DCHS2 | c.4290C>T (p.His1430=) n.2924C>T c.2924C>T c.2925C>T (p.His975=) c.1959C>T (p.His653=) c.1851C>T (p.His617=) c.348C>T (p.His116=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.154321109G>C | CA358506563 | DCHS2 | c.4290C>G (p.His1430Gln) n.2924C>G c.2924C>G c.2925C>G (p.His975Gln) c.1959C>G (p.His653Gln) c.1851C>G (p.His617Gln) c.348C>G (p.His116Gln) | |
| 4 | g.154321109G= | CA1504822008 | DCHS2 | c.4290C= (p.His1430=) n.2924C= c.2924C= c.2925C= (p.His975=) c.1959C= (p.His653=) c.1851C= (p.His617=) c.348C= (p.His116=) | |
| 4 | g.154321109G>T | CA358506566 | DCHS2 | c.4290C>A (p.His1430Gln) n.2924C>A c.2924C>A c.2925C>A (p.His975Gln) c.1959C>A (p.His653Gln) c.1851C>A (p.His617Gln) c.348C>A (p.His116Gln) | dbSNP |
| 4 | g.154321110T>A | CA358506569 | DCHS2 | c.4289A>T (p.His1430Leu) n.2923A>T c.2923A>T c.2924A>T (p.His975Leu) c.1958A>T (p.His653Leu) c.1850A>T (p.His617Leu) c.347A>T (p.His116Leu) | |
| 4 | g.154321110T>C | CA358506572 | DCHS2 | c.4289A>G (p.His1430Arg) n.2923A>G c.2923A>G c.2924A>G (p.His975Arg) c.1958A>G (p.His653Arg) c.1850A>G (p.His617Arg) c.347A>G (p.His116Arg) | |
| 4 | g.154321110T>G | CA358506575 | DCHS2 | c.4289A>C (p.His1430Pro) n.2923A>C c.2923A>C c.2924A>C (p.His975Pro) c.1958A>C (p.His653Pro) c.1850A>C (p.His617Pro) c.347A>C (p.His116Pro) | |
| 4 | g.154321111G>A | CA3112880 | DCHS2 | c.4288C>T (p.His1430Tyr) n.2922C>T c.2922C>T c.2923C>T (p.His975Tyr) c.1957C>T (p.His653Tyr) c.1849C>T (p.His617Tyr) c.346C>T (p.His116Tyr) | dbSNP ExAC gnomAD v2 |
| 4 | g.154321111G>C | CA358506581 | DCHS2 | c.4288C>G (p.His1430Asp) n.2922C>G c.2922C>G c.2923C>G (p.His975Asp) c.1957C>G (p.His653Asp) c.1849C>G (p.His617Asp) c.346C>G (p.His116Asp) | |
| 4 | g.154321111G= | CA1504822009 | DCHS2 | c.4288C= (p.His1430=) n.2922C= c.2922C= c.2923C= (p.His975=) c.1957C= (p.His653=) c.1849C= (p.His617=) c.346C= (p.His116=) | |
| 4 | g.154321111G>T | CA358506584 | DCHS2 | c.4288C>A (p.His1430Asn) n.2922C>A c.2922C>A c.2923C>A (p.His975Asn) c.1957C>A (p.His653Asn) c.1849C>A (p.His617Asn) c.346C>A (p.His116Asn) | |
| 4 | g.154321112A>C | CA358506589 | DCHS2 | c.4287T>G (p.Asp1429Glu) n.2921T>G c.2921T>G c.2922T>G (p.Asp974Glu) c.1956T>G (p.Asp652Glu) c.1848T>G (p.Asp616Glu) c.345T>G (p.Asp115Glu) | |
| 4 | g.154321112A>G | CA441803656 | DCHS2 | c.4287T>C (p.Asp1429=) n.2921T>C c.2921T>C c.2922T>C (p.Asp974=) c.1956T>C (p.Asp652=) c.1848T>C (p.Asp616=) c.345T>C (p.Asp115=) | |
| 4 | g.154321112A>T | CA358506591 | DCHS2 | c.4287T>A (p.Asp1429Glu) n.2921T>A c.2921T>A c.2922T>A (p.Asp974Glu) c.1956T>A (p.Asp652Glu) c.1848T>A (p.Asp616Glu) c.345T>A (p.Asp115Glu) | |
| 4 | g.154321113T>A | CA358506594 | DCHS2 | c.4286A>T (p.Asp1429Val) n.2920A>T c.2920A>T c.2921A>T (p.Asp974Val) c.1955A>T (p.Asp652Val) c.1847A>T (p.Asp616Val) c.344A>T (p.Asp115Val) | |
| 4 | g.154321113T>C | CA358506599 | DCHS2 | c.4286A>G (p.Asp1429Gly) n.2920A>G c.2920A>G c.2921A>G (p.Asp974Gly) c.1955A>G (p.Asp652Gly) c.1847A>G (p.Asp616Gly) c.344A>G (p.Asp115Gly) | |
| 4 | g.154321113T>G | CA358506597 | DCHS2 | c.4286A>C (p.Asp1429Ala) n.2920A>C c.2920A>C c.2921A>C (p.Asp974Ala) c.1955A>C (p.Asp652Ala) c.1847A>C (p.Asp616Ala) c.344A>C (p.Asp115Ala) | |
| 4 | g.154321114C>A | CA358506603 | DCHS2 | c.4285G>T (p.Asp1429Tyr) n.2919G>T c.2919G>T c.2920G>T (p.Asp974Tyr) c.1954G>T (p.Asp652Tyr) c.1846G>T (p.Asp616Tyr) c.343G>T (p.Asp115Tyr) | gnomAD v4 |
| 4 | g.154321114C= | CA1504822010 | DCHS2 | c.4285G= (p.Asp1429=) n.2919G= c.2919G= c.2920G= (p.Asp974=) c.1954G= (p.Asp652=) c.1846G= (p.Asp616=) c.343G= (p.Asp115=) | |
| 4 | g.154321114C>G | CA358506605 | DCHS2 | c.4285G>C (p.Asp1429His) n.2919G>C c.2919G>C c.2920G>C (p.Asp974His) c.1954G>C (p.Asp652His) c.1846G>C (p.Asp616His) c.343G>C (p.Asp115His) | |
| 4 | g.154321114C>T | CA358506608 | DCHS2 | c.4285G>A (p.Asp1429Asn) n.2919G>A c.2919G>A c.2920G>A (p.Asp974Asn) c.1954G>A (p.Asp652Asn) c.1846G>A (p.Asp616Asn) c.343G>A (p.Asp115Asn) | dbSNP gnomAD v4 |
| 4 | g.154321115A>C | CA441803660 | DCHS2 | c.4284T>G (p.Ser1428=) n.2918T>G c.2918T>G c.2919T>G (p.Ser973=) c.1953T>G (p.Ser651=) c.1845T>G (p.Ser615=) c.342T>G (p.Ser114=) | gnomAD v4 |
| 4 | g.154321115A>G | CA441803661 | DCHS2 | c.4284T>C (p.Ser1428=) n.2918T>C c.2918T>C c.2919T>C (p.Ser973=) c.1953T>C (p.Ser651=) c.1845T>C (p.Ser615=) c.342T>C (p.Ser114=) | |
| 4 | g.154321115A>T | CA441803662 | DCHS2 | c.4284T>A (p.Ser1428=) n.2918T>A c.2918T>A c.2919T>A (p.Ser973=) c.1953T>A (p.Ser651=) c.1845T>A (p.Ser615=) c.342T>A (p.Ser114=) | |
| 4 | g.154321116G>A | CA358506609 | DCHS2 | c.4283C>T (p.Ser1428Phe) n.2917C>T c.2917C>T c.2918C>T (p.Ser973Phe) c.1952C>T (p.Ser651Phe) c.1844C>T (p.Ser615Phe) c.341C>T (p.Ser114Phe) | dbSNP gnomAD v4 |
| 4 | g.154321116G>C | CA358506610 | DCHS2 | c.4283C>G (p.Ser1428Cys) n.2917C>G c.2917C>G c.2918C>G (p.Ser973Cys) c.1952C>G (p.Ser651Cys) c.1844C>G (p.Ser615Cys) c.341C>G (p.Ser114Cys) | gnomAD v4 |
| 4 | g.154321116G= | CA1504822011 | DCHS2 | c.4283C= (p.Ser1428=) n.2917C= c.2917C= c.2918C= (p.Ser973=) c.1952C= (p.Ser651=) c.1844C= (p.Ser615=) c.341C= (p.Ser114=) | |
| 4 | g.154321116G>T | CA358506611 | DCHS2 | c.4283C>A (p.Ser1428Tyr) n.2917C>A c.2917C>A c.2918C>A (p.Ser973Tyr) c.1952C>A (p.Ser651Tyr) c.1844C>A (p.Ser615Tyr) c.341C>A (p.Ser114Tyr) | |
| 4 | g.154321117A>C | CA358506613 | DCHS2 | c.4282T>G (p.Ser1428Ala) n.2916T>G c.2916T>G c.2917T>G (p.Ser973Ala) c.1951T>G (p.Ser651Ala) c.1843T>G (p.Ser615Ala) c.340T>G (p.Ser114Ala) | |
| 4 | g.154321117A>G | CA358506614 | DCHS2 | c.4282T>C (p.Ser1428Pro) n.2916T>C c.2916T>C c.2917T>C (p.Ser973Pro) c.1951T>C (p.Ser651Pro) c.1843T>C (p.Ser615Pro) c.340T>C (p.Ser114Pro) | |
| 4 | g.154321117A>T | CA358506617 | DCHS2 | c.4282T>A (p.Ser1428Thr) n.2916T>A c.2916T>A c.2917T>A (p.Ser973Thr) c.1951T>A (p.Ser651Thr) c.1843T>A (p.Ser615Thr) c.340T>A (p.Ser114Thr) | |
| 4 | g.154321118T>A | CA441803663 | DCHS2 | c.4281A>T (p.Ser1427=) n.2915A>T c.2915A>T c.2916A>T (p.Ser972=) c.1950A>T (p.Ser650=) c.1842A>T (p.Ser614=) c.339A>T (p.Ser113=) | |
| 4 | g.154321118T>C | CA441803667 | DCHS2 | c.4281A>G (p.Ser1427=) n.2915A>G c.2915A>G c.2916A>G (p.Ser972=) c.1950A>G (p.Ser650=) c.1842A>G (p.Ser614=) c.339A>G (p.Ser113=) | |
| 4 | g.154321118T>G | CA441803664 | DCHS2 | c.4281A>C (p.Ser1427=) n.2915A>C c.2915A>C c.2916A>C (p.Ser972=) c.1950A>C (p.Ser650=) c.1842A>C (p.Ser614=) c.339A>C (p.Ser113=) | |
| 4 | g.154321119G>A | CA358506623 | DCHS2 | c.4280C>T (p.Ser1427Leu) n.2914C>T c.2914C>T c.2915C>T (p.Ser972Leu) c.1949C>T (p.Ser650Leu) c.1841C>T (p.Ser614Leu) c.338C>T (p.Ser113Leu) | COSMIC |
| 4 | g.154321119G>C | CA358506625 | DCHS2 | c.4280C>G (p.Ser1427Ter) n.2914C>G c.2914C>G c.2915C>G (p.Ser972Ter) c.1949C>G (p.Ser650Ter) c.1841C>G (p.Ser614Ter) c.338C>G (p.Ser113Ter) | |
| 4 | g.154321119G>T | CA358506621 | DCHS2 | c.4280C>A (p.Ser1427Ter) n.2914C>A c.2914C>A c.2915C>A (p.Ser972Ter) c.1949C>A (p.Ser650Ter) c.1841C>A (p.Ser614Ter) c.338C>A (p.Ser113Ter) | gnomAD v4 |
| 4 | g.154321120A>C | CA358506627 | DCHS2 | c.4279T>G (p.Ser1427Ala) n.2913T>G c.2913T>G c.2914T>G (p.Ser972Ala) c.1948T>G (p.Ser650Ala) c.1840T>G (p.Ser614Ala) c.337T>G (p.Ser113Ala) | |
| 4 | g.154321120A>G | CA358506629 | DCHS2 | c.4279T>C (p.Ser1427Pro) n.2913T>C c.2913T>C c.2914T>C (p.Ser972Pro) c.1948T>C (p.Ser650Pro) c.1840T>C (p.Ser614Pro) c.337T>C (p.Ser113Pro) | |
| 4 | g.154321120A>T | CA358506632 | DCHS2 | c.4279T>A (p.Ser1427Thr) n.2913T>A c.2913T>A c.2914T>A (p.Ser972Thr) c.1948T>A (p.Ser650Thr) c.1840T>A (p.Ser614Thr) c.337T>A (p.Ser113Thr) | |
| 4 | g.154321121del | CA2672428550 | DCHS2 | c.4278del (p.Lys1426AsnfsTer29) n.2912del c.2912del c.2913del (p.Lys971AsnfsTer29) c.1947del (p.Lys649AsnfsTer29) c.1839del (p.Lys613AsnfsTer29) c.336del (p.Lys112AsnfsTer29) | gnomAD v4 |
| 4 | g.154321121C>A | CA358506635 | DCHS2 | c.4278G>T (p.Lys1426Asn) n.2912G>T c.2912G>T c.2913G>T (p.Lys971Asn) c.1947G>T (p.Lys649Asn) c.1839G>T (p.Lys613Asn) c.336G>T (p.Lys112Asn) | |
| 4 | g.154321121C= | CA1504822012 | DCHS2 | c.4278G= (p.Lys1426=) n.2912G= c.2912G= c.2913G= (p.Lys971=) c.1947G= (p.Lys649=) c.1839G= (p.Lys613=) c.336G= (p.Lys112=) | |
| 4 | g.154321121C>G | CA358506638 | DCHS2 | c.4278G>C (p.Lys1426Asn) n.2912G>C c.2912G>C c.2913G>C (p.Lys971Asn) c.1947G>C (p.Lys649Asn) c.1839G>C (p.Lys613Asn) c.336G>C (p.Lys112Asn) | COSMIC |
| 4 | g.154321121C>T | CA441803671 | DCHS2 | c.4278G>A (p.Lys1426=) n.2912G>A c.2912G>A c.2913G>A (p.Lys971=) c.1947G>A (p.Lys649=) c.1839G>A (p.Lys613=) c.336G>A (p.Lys112=) | dbSNP gnomAD v4 |
| 4 | g.154321122T>A | CA358506641 | DCHS2 | c.4277A>T (p.Lys1426Met) n.2911A>T c.2911A>T c.2912A>T (p.Lys971Met) c.1946A>T (p.Lys649Met) c.1838A>T (p.Lys613Met) c.335A>T (p.Lys112Met) | |
| 4 | g.154321122T>C | CA358506644 | DCHS2 | c.4277A>G (p.Lys1426Arg) n.2911A>G c.2911A>G c.2912A>G (p.Lys971Arg) c.1946A>G (p.Lys649Arg) c.1838A>G (p.Lys613Arg) c.335A>G (p.Lys112Arg) | |
| 4 | g.154321122T>G | CA358506646 | DCHS2 | c.4277A>C (p.Lys1426Thr) n.2911A>C c.2911A>C c.2912A>C (p.Lys971Thr) c.1946A>C (p.Lys649Thr) c.1838A>C (p.Lys613Thr) c.335A>C (p.Lys112Thr) | |
| 4 | g.154321123_154321124del | CA2672428551 | DCHS2 | c.4276_4277del (p.Lys1426ValfsTer3) n.2910_2911del c.2910_2911del c.2911_2912del (p.Lys971ValfsTer3) c.1945_1946del (p.Lys649ValfsTer3) c.1837_1838del (p.Lys613ValfsTer3) c.334_335del (p.Lys112ValfsTer3) | gnomAD v4 |
| 4 | g.154321123T>A | CA358506647 | DCHS2 | c.4276A>T (p.Lys1426Ter) n.2910A>T c.2910A>T c.2911A>T (p.Lys971Ter) c.1945A>T (p.Lys649Ter) c.1837A>T (p.Lys613Ter) c.334A>T (p.Lys112Ter) | |
| 4 | g.154321123T>C | CA358506649 | DCHS2 | c.4276A>G (p.Lys1426Glu) n.2910A>G c.2910A>G c.2911A>G (p.Lys971Glu) c.1945A>G (p.Lys649Glu) c.1837A>G (p.Lys613Glu) c.334A>G (p.Lys112Glu) | |
| 4 | g.154321123T>G | CA358506651 | DCHS2 | c.4276A>C (p.Lys1426Gln) n.2910A>C c.2910A>C c.2911A>C (p.Lys971Gln) c.1945A>C (p.Lys649Gln) c.1837A>C (p.Lys613Gln) c.334A>C (p.Lys112Gln) | |
| 4 | g.154321124T>A | CA441803675 | DCHS2 | c.4275A>T (p.Ile1425=) n.2909A>T c.2909A>T c.2910A>T (p.Ile970=) c.1944A>T (p.Ile648=) c.1836A>T (p.Ile612=) c.333A>T (p.Ile111=) | |
| 4 | g.154321124T>C | CA358506654 | DCHS2 | c.4275A>G (p.Ile1425Met) n.2909A>G c.2909A>G c.2910A>G (p.Ile970Met) c.1944A>G (p.Ile648Met) c.1836A>G (p.Ile612Met) c.333A>G (p.Ile111Met) | dbSNP |
| 4 | g.154321124T>G | CA441803676 | DCHS2 | c.4275A>C (p.Ile1425=) n.2909A>C c.2909A>C c.2910A>C (p.Ile970=) c.1944A>C (p.Ile648=) c.1836A>C (p.Ile612=) c.333A>C (p.Ile111=) | |
| 4 | g.154321124T= | CA1504822013 | DCHS2 | c.4275A= (p.Ile1425=) n.2909A= c.2909A= c.2910A= (p.Ile970=) c.1944A= (p.Ile648=) c.1836A= (p.Ile612=) c.333A= (p.Ile111=) |