| 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.5226716_5226728del | CA916083198 | HBB | c.165_177del (p.Met56ArgfsTer2) n.97_109del n.216_228del c.149_161del (p.Leu50Ter) | ClinVar dbSNP |
| 11 | g.5226723_5226728delinsCCATAA | CA1949568863 | HBB | c.164_169delinsTTATGG (p.Val55=) n.96_101delinsTTATGG n.215_220delinsTTATGG c.148_153delinsTTATGG (p.Leu50=) | |
| 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.5226725_5226744delinsATAACAGCATCAGGAGTGGA | CA1949568894 | HBB | c.148_167delinsTCCACTCCTGATGCTGTTAT (p.Ser50=) n.80_99delinsTCCACTCCTGATGCTGTTAT n.199_218delinsTCCACTCCTGATGCTGTTAT c.132_151delinsTCCACTCCTGATGCTGTTAT (p.Cys44=) | |
| 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.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 |
| 11 | g.5226730A>C | CA472885739 | HBB | c.162T>G (p.Ala54=) n.94T>G n.213T>G c.146T>G (p.Leu49Arg) | |
| 11 | g.5226730A>G | CA472885741 | HBB | c.162T>C (p.Ala54=) n.94T>C n.213T>C c.146T>C (p.Leu49Pro) | gnomAD v4 |
| 11 | g.5226730A>T | CA472885740 | HBB | c.162T>A (p.Ala54=) n.94T>A n.213T>A c.146T>A (p.Leu49Gln) | |
| 11 | g.5226731G>A | CA379274405 | HBB | c.161C>T (p.Ala54Val) n.93C>T n.212C>T c.145C>T (p.Leu49=) | |
| 11 | g.5226731G>C | CA379274407 | HBB | c.161C>G (p.Ala54Gly) n.93C>G n.212C>G c.145C>G (p.Leu49Val) | |
| 11 | g.5226731G>T | CA379274409 | HBB | c.161C>A (p.Ala54Asp) n.93C>A n.212C>A c.145C>A (p.Leu49Met) | |
| 11 | g.5226732C>A | CA379274412 | HBB | c.160G>T (p.Ala54Ser) n.92G>T n.211G>T c.144G>T (p.Met48Ile) | |
| 11 | g.5226732C= | CA1949568940 | HBB | c.160G= (p.Ala54=) n.92G= n.211G= c.144G= (p.Met48=) | |
| 11 | g.5226732C>G | CA379274413 | HBB | c.160G>C (p.Ala54Pro) n.92G>C n.211G>C c.144G>C (p.Met48Ile) | COSMIC |
| 11 | g.5226732C>T | CA5839757 | HBB | c.160G>A (p.Ala54Thr) n.92G>A n.211G>A c.144G>A (p.Met48Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5226733A= | CA1949568945 | HBB | c.159T= (p.Asp53=) n.91T= n.210T= c.143T= (p.Met48=) | |
| 11 | g.5226733A>C | CA379274415 | HBB | c.159T>G (p.Asp53Glu) n.91T>G n.210T>G c.143T>G (p.Met48Arg) | |
| 11 | g.5226733A>G | CA5839758 | HBB | c.159T>C (p.Asp53=) n.91T>C n.210T>C c.143T>C (p.Met48Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5226733A>T | CA379274417 | HBB | c.159T>A (p.Asp53Glu) n.91T>A n.210T>A c.143T>A (p.Met48Lys) | |
| 11 | g.5226733_5226734delinsAT | CA1949568948 | HBB | c.158_159delinsAT (p.Asp53=) n.90_91delinsAT n.209_210delinsAT c.142_143delinsAT (p.Met48=) | |
| 11 | g.5226734del | CA916083201 | HBB | c.158del (p.Asp53ValfsTer9) n.90del n.209del c.142del (p.Met48CysfsTer7) | ClinVar dbSNP |
| 11 | g.5226734T>A | CA217114308 | HBB | c.158A>T (p.Asp53Val) n.90A>T n.209A>T c.142A>T (p.Met48Leu) | ClinVar dbSNP |
| 11 | g.5226734T>C | CA125446 | HBB | c.158A>G (p.Asp53Gly) n.90A>G n.209A>G c.142A>G (p.Met48Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5226734T>G | CA125072 | HBB | c.158A>C (p.Asp53Ala) n.90A>C n.209A>C c.142A>C (p.Met48Leu) | ClinVar dbSNP |
| 11 | g.5226734T= | CA1949568962 | HBB | c.158A= (p.Asp53=) n.90A= n.209A= c.142A= (p.Met48=) | |
| 11 | g.5226735_5226741dup | CA2695213051 | HBB | c.152_158dup (p.Ala54SerfsTer2) n.84_90dup n.203_209dup c.136_142dup (p.Met48ThrfsTer?) | |
| 11 | g.5226735C>A | CA217114317 | HBB | c.157G>T (p.Asp53Tyr) n.89G>T n.208G>T c.141G>T (p.Leu47=) | dbSNP |
| 11 | g.5226735C= | CA1949568977 | HBB | c.157G= (p.Asp53=) n.89G= n.208G= c.141G= (p.Leu47=) | |
| 11 | g.5226735C>G | CA125186 | HBB | c.157G>C (p.Asp53His) n.89G>C n.208G>C c.141G>C (p.Leu47=) | ClinVar dbSNP |
| 11 | g.5226735C>T | CA125088 | HBB | c.157G>A (p.Asp53Asn) n.89G>A n.208G>A c.141G>A (p.Leu47=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |