Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.5224303_5227790del | CA2499220996 | ClinVar | ||
11 | g.5225158_5227199delinsCTTAT | CA916083168 | ClinVar | ||
11 | g.5225895_5227411delinsT | CA916083175 | ClinVar | ||
11 | g.5226164_5227556del | CA916083178 | ClinVar | ||
11 | g.5226452_5228055del | CA916083180 | ClinVar | ||
11 | g.5226570_5233984del | CA124670 | ClinVar | ||
11 | g.5226638_5234052del | CA124669 | ClinVar | ||
11 | g.5226641_5227549del | CA916083189 | HBB | c.-56_251del | ClinVar |
11 | g.5226713_5226724del | CA125207 | HBB | c.170_181del (p.Gly57_Lys60del) n.102_113del n.221_232del c.154_165del (p.Ala52_Arg55del) | ClinVar dbSNP |
11 | g.5226714_5226727delinsTAGGGTTGCCCATA | CA1949568769 | HBB | c.165_178delinsTATGGGCAACCCTA (p.Val55=) n.97_110delinsTATGGGCAACCCTA n.216_229delinsTATGGGCAACCCTA c.149_162delinsTATGGGCAACCCTA (p.Leu50=) | |
11 | g.5226716_5226728del | CA916083198 | HBB | c.165_177del (p.Met56ArgfsTer2) n.97_109del n.216_228del c.149_161del (p.Leu50Ter) | ClinVar dbSNP |
11 | g.5226724del | CA2695213050 | HBB | c.170del (p.Gly57AlafsTer5) n.102del n.221del c.154del (p.Ala52GlnfsTer3) | |
11 | g.5226723C>A | CA217114253 | HBB | c.169G>T (p.Gly57Cys) n.101G>T n.220G>T c.153G>T (p.Trp51Cys) | dbSNP |
11 | g.5226723C= | CA1949568867 | HBB | c.169G= (p.Gly57=) n.101G= n.220G= c.153G= (p.Trp51=) | |
11 | g.5226723C>G | CA124886 | HBB | c.169G>C (p.Gly57Arg) n.101G>C n.220G>C c.153G>C (p.Trp51Cys) | ClinVar dbSNP |
11 | g.5226723C>T | CA217114264 | HBB | c.169G>A (p.Gly57Ser) n.101G>A n.220G>A c.153G>A (p.Trp51Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5226723_5226728delinsCCATAA | CA1949568863 | HBB | c.164_169delinsTTATGG (p.Val55=) n.96_101delinsTTATGG n.215_220delinsTTATGG c.148_153delinsTTATGG (p.Leu50=) | |
11 | g.5226724C>A | CA379273907 | HBB | c.168G>T (p.Met56Ile) n.100G>T n.219G>T c.152G>T (p.Trp51Leu) | |
11 | g.5226724C>G | CA379273908 | HBB | c.168G>C (p.Met56Ile) n.100G>C n.219G>C c.152G>C (p.Trp51Ser) | |
11 | g.5226724C>T | CA379273909 | HBB | c.168G>A (p.Met56Ile) n.100G>A n.219G>A c.152G>A (p.Trp51Ter) | COSMIC |
11 | g.5226724_5226728delinsTGATGCC | CA891862903 | HBB | c.164_168delinsGGCATCA (p.Val55GlyfsTer8) n.96_100delinsGGCATCA n.215_219delinsGGCATCA c.148_152delinsGGCATCA (p.Leu50GlyfsTer6) | ClinVar dbSNP |
11 | g.5226725A= | CA1949568887 | HBB | c.167T= (p.Met56=) n.99T= n.218T= c.151T= (p.Trp51=) | |
11 | g.5226725A>C | CA379273910 | HBB | c.167T>G (p.Met56Arg) n.99T>G n.218T>G c.151T>G (p.Trp51Gly) | |
11 | g.5226725A>G | CA379273911 | HBB | c.167T>C (p.Met56Thr) n.99T>C n.218T>C c.151T>C (p.Trp51Arg) | ClinVar dbSNP |
11 | g.5226725A>T | CA125022 | HBB | c.167T>A (p.Met56Lys) n.99T>A n.218T>A c.151T>A (p.Trp51Arg) | ClinVar dbSNP |
11 | g.5226725_5226726delinsAT | CA1949568895 | HBB | c.166_167delinsAT (p.Met56=) n.98_99delinsAT n.217_218delinsAT c.150_151delinsAT (p.Leu50=) | |
11 | g.5226725_5226744delinsATAACAGCATCAGGAGTGGA | CA1949568894 | HBB | c.148_167delinsTCCACTCCTGATGCTGTTAT (p.Ser50=) n.80_99delinsTCCACTCCTGATGCTGTTAT n.199_218delinsTCCACTCCTGATGCTGTTAT c.132_151delinsTCCACTCCTGATGCTGTTAT (p.Cys44=) | |
11 | g.5226726del | CA916083200 | HBB | c.166del (p.Met56TrpfsTer6) n.98del n.217del c.150del (p.Leu50PhefsTer5) | ClinVar dbSNP |
11 | g.5226726T>A | CA379273914 | HBB | c.166A>T (p.Met56Leu) n.98A>T n.217A>T c.150A>T (p.Leu50Phe) | |
11 | g.5226726T>C | CA379273912 | HBB | c.166A>G (p.Met56Val) n.98A>G n.217A>G c.150A>G (p.Leu50=) | |
11 | g.5226726T>G | CA379273913 | HBB | c.166A>C (p.Met56Leu) n.98A>C n.217A>C c.150A>C (p.Leu50Phe) | |
11 | g.5226726dup | CA217114278 | HBB | c.166dup (p.Met56AsnfsTer5) n.98dup n.217dup c.150dup (p.Trp51MetfsTer?) | ClinVar dbSNP |
11 | g.5226726_5226727delinsTA | CA1949568902 | HBB | c.165_166delinsTA (p.Val55=) n.97_98delinsTA n.216_217delinsTA c.149_150delinsTA (p.Leu50=) | |
11 | g.5226726_5226744delinsAGCT | CA217114272 | HBB | c.148_166delinsAGCT (p.Thr51_Met56delinsLeu) n.80_98delinsAGCT n.199_217delinsAGCT c.132_150delinsAGCT (p.Cys44Ter) | dbSNP |
11 | g.5226727A= | CA1949568912 | HBB | c.165T= (p.Val55=) n.97T= n.216T= c.149T= (p.Leu50=) | |
11 | g.5226727A>C | CA472885842 | HBB | c.165T>G (p.Val55=) n.97T>G n.216T>G c.149T>G (p.Leu50Ter) | |
11 | g.5226727A>G | CA5839756 | HBB | c.165T>C (p.Val55=) n.97T>C n.216T>C c.149T>C (p.Leu50Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5226727A>T | CA472885843 | HBB | c.165T>A (p.Val55=) n.97T>A n.216T>A c.149T>A (p.Leu50Ter) | |
11 | g.5226728del | CA217114283 | HBB | c.165del (p.Met56TrpfsTer6) n.97del n.216del c.149del (p.Leu50TyrfsTer5) | ClinVar dbSNP |
11 | g.5226728A= | CA1949568923 | HBB | c.164T= (p.Val55=) n.96T= n.215T= c.148T= (p.Leu50=) | |
11 | g.5226728A>C | CA379273915 | HBB | c.164T>G (p.Val55Gly) n.96T>G n.215T>G c.148T>G (p.Leu50Val) | |
11 | g.5226728A>G | CA379273916 | HBB | c.164T>C (p.Val55Ala) n.96T>C n.215T>C c.148T>C (p.Leu50=) | ClinVar dbSNP |
11 | g.5226728A>T | CA125350 | HBB | c.164T>A (p.Val55Asp) n.96T>A n.215T>A c.148T>A (p.Leu50Ile) | ClinVar dbSNP |
11 | g.5226729C>A | CA379273917 | HBB | c.163G>T (p.Val55Phe) n.95G>T n.214G>T c.147G>T (p.Leu49=) | |
11 | g.5226729C= | CA1949568930 | HBB | c.163G= (p.Val55=) n.95G= n.214G= c.147G= (p.Leu49=) | |
11 | g.5226729C>G | CA379273918 | HBB | c.163G>C (p.Val55Leu) n.95G>C n.214G>C c.147G>C (p.Leu49=) | |
11 | g.5226729C>T | CA379273919 | HBB | c.163G>A (p.Val55Ile) n.95G>A n.214G>A c.147G>A (p.Leu49=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5226729dup | CA217114301 | HBB | c.163dup (p.Val55GlyfsTer6) n.95dup n.214dup c.147dup (p.Leu50ValfsTer?) | ClinVar dbSNP |
11 | g.5226729_5226730delinsCA | CA1949568932 | HBB | c.162_163delinsTG (p.Ala54=) n.94_95delinsTG n.213_214delinsTG c.146_147delinsTG (p.Leu49=) | |
11 | g.5226730del | CA645509062 | HBB | c.162del (p.Val55LeufsTer7) n.94del n.213del c.146del (p.Leu49ArgfsTer6) | ClinVar dbSNP |